diff --git a/README.md b/README.md index b268860..58342f6 100644 --- a/README.md +++ b/README.md @@ -83,6 +83,10 @@ If you want to analyze the output file in R, a suitable line of code to read it clinvar = read.table('clinvar_alleles.tsv',sep='\t',header=T,quote='',comment.char='') ``` +#### Limitation + +The accuracy of output files is limited by the download-able files from the ClinVar FTP site. In the case that ClinVar releases new data with a new reporting format or an unfinished format update, our pipeline may not work for the latest release. We would recommend that users revert to the old version by specifying the input ClinVar files when executing `python master.py`. + #### License, terms, and conditions ClinVar data, as a work of the United States federal government, are in the public domain and are redistributed here under [the same terms](http://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/) as they are distributed by ClinVar itself. Importantly, note that ClinVar data are "not intended for direct diagnostic use or medical decision-making without review by a genetics professional". The code in this repository is distributed under an MIT license. diff --git a/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz b/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz old mode 100644 new mode 100755 index 62ff74b..e50783a 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 old mode 100644 new mode 100755 index f369911..f5d81b4 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 old mode 100644 new mode 100755 index 30ba438..7840274 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 old mode 100644 new mode 100755 index 80a3148..ccf4bf0 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 d9446f0..bec6098 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 @@ -1,750 +1,517 @@ -chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance pathogenic benign conflicted review_status gold_stars all_submitters all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs -1 7809893 C G Haplotype 224889 RCV000210468 226735 PER3 NM_001289862.1:c.1243C>G NP_001276791.1:p.Pro415Ala NM_001289862.1:c.1243C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 Adolescent germline MedGen:CN235882;OMIM:616882;Orphanet:164736 -1 7809900 A G Haplotype 224889 RCV000210468 226734 PER3 NM_001289862.1:c.1250A>G NP_001276791.1:p.His417Arg NM_001289862.1:c.1250A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 Adolescent germline MedGen:CN235882;OMIM:616882;Orphanet:164736 -1 7984971 G A Haplotype 60700 RCV000007484 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358,20301402 Adult 1-5 / 10 000 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 -1 11948035 C T CompoundHeterozygote 218321 RCV000202446 215016 PLOD1 NM_000302.3:c.136C>T NP_000293.2:p.Arg46Cys NM_000302.3:c.136C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Ehlers-Danlos syndrome, hydroxylysine-deficient 15979919,20301635 Autosomal recessive inheritance Infancy 1-9 / 100 000;1:100,000 live births. Carrier frequency is estimated to be 1:150. loss of function germline GeneReviews:NBK1462;Genetic Alliance:Ehlers-Danlos+syndrome%2C+hydroxylysine-deficient/8298;Genetic Alliance:Nevo+syndrome/5215;Genetic Testing Registry (GTR):GTR000327667;Genetic Testing Registry (GTR):GTR000500398;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000501090;Genetic Testing Registry (GTR):GTR000509007;Genetic Testing Registry (GTR):GTR000510821;Genetic Testing Registry (GTR):GTR000514633;Genetic Testing Registry (GTR):GTR000515704;Genetic Testing Registry (GTR):GTR000522328;Genetic Testing Registry (GTR):GTR000525812;Genetic Testing Registry (GTR):GTR000529376;MedGen:C0268342;OMIM:153454.0001;OMIM:153454.0002;OMIM:153454.0003;OMIM:153454.0004;OMIM:153454.0005;OMIM:153454.0006;OMIM:153454.0007;OMIM:153454.0008;OMIM:153454.0009;OMIM:153454.0010;OMIM:225400;Orphanet:1900;SNOMED CT:25606004 -1 11974699 C T CompoundHeterozygote 218321 RCV000202446 215017 PLOD1 NM_000302.3:c.2075C>T NP_000293.2:p.Pro692Leu NM_000302.3:c.2075C>T:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Ehlers-Danlos syndrome, hydroxylysine-deficient 15979919,20301635 Autosomal recessive inheritance Infancy 1-9 / 100 000;1:100,000 live births. Carrier frequency is estimated to be 1:150. loss of function germline GeneReviews:NBK1462;Genetic Alliance:Ehlers-Danlos+syndrome%2C+hydroxylysine-deficient/8298;Genetic Alliance:Nevo+syndrome/5215;Genetic Testing Registry (GTR):GTR000327667;Genetic Testing Registry (GTR):GTR000500398;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000501090;Genetic Testing Registry (GTR):GTR000509007;Genetic Testing Registry (GTR):GTR000510821;Genetic Testing Registry (GTR):GTR000514633;Genetic Testing Registry (GTR):GTR000515704;Genetic Testing Registry (GTR):GTR000522328;Genetic Testing Registry (GTR):GTR000525812;Genetic Testing Registry (GTR):GTR000529376;MedGen:C0268342;OMIM:153454.0001;OMIM:153454.0002;OMIM:153454.0003;OMIM:153454.0004;OMIM:153454.0005;OMIM:153454.0006;OMIM:153454.0007;OMIM:153454.0008;OMIM:153454.0009;OMIM:153454.0010;OMIM:225400;Orphanet:1900;SNOMED CT:25606004 -1 25301061 C G Haplotype 202166;208474 RCV000184007;RCV000190496 198596 RHD NM_016124.4:c.602C>G NP_057208.2:p.Thr201Arg NM_016124.4:c.602C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 -1 25301552 T G Haplotype 202166;208474 RCV000184007;RCV000190496 198597 RHD NM_016124.4:c.667T>G NP_057208.2:p.Phe223Val NM_016124.4:c.667T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 -1 25301582 G C Haplotype 208474 RCV000190496 204995 RHD NM_016124.4:c.697G>C NP_057208.2:p.Glu233Gln NM_016124.4:c.697G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 -1 25301618 G C Haplotype 208474 RCV000190496 204996 RHD NM_016124.4:c.733G>C NP_057208.2:p.Val245Leu NM_016124.4:c.733G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 -1 25301629 C T Haplotype 202166;208474 RCV000184007;RCV000190496 198598 RHD NM_016124.4:c.744C>T NP_057208.2:p.Ser248= NM_016124.4:c.744C>T:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 -1 25306613 G A Haplotype 202166 RCV000184007 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 reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 -1 25306681 T C Haplotype 202166 RCV000184007 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 reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 -1 25306719 G A Haplotype 202166 RCV000184007 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 reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 -1 25375385 C T Haplotype 208474 RCV000190496 204997 RHD not reported for simple variant 0 0 0 no assertion for the individual variant 0 Colsan,Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 -1 25420739 G C Haplotype 17709 RCV000019283 32748 RHCE NM_020485.4:c.48G= NP_065231.3:p.Trp16= NM_020485.4:c.48G=:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM RH C/c POLYMORPHISM;RH C/c POLYMORPHISM 8220426 germline OMIM:111700.0002 -1 36471472 TC T CompoundHeterozygote 161983 RCV000149409 171705 CSF3R NM_156039.3:c.1245delG NP_724781.1:p.Thr416Profs NM_156039.3:c.1245delG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 Klein lab,Ludwig-Maximilians-University Severe congenital neutropenia;Severe congenital neutropenia 24753537 Autosomal dominant inheritance germline Genetics Home Reference:severe-congenital-neutropenia;MedGen:C1853118;OMIM:PS202700;Orphanet:42738 -1 45507544 T TA CompoundHeterozygote 218900 RCV000203236 16460 MMACHC NM_015506.2:c.271dupA NP_056321.2:p.Arg91Lysfs NM_015506.2:c.271dupA:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Bull's eye maculopathy;Methylmalonic acidemia with homocystinuria 20301503,23806086,24088041,25687216 Autosomal dominant inheritance All ages;Childhood <1 / 1 000 000 inherited GeneReviews:NBK1328;Genetic Alliance:Methylmalonic+acidemia+with+homocystinuria/4715;Genetics Home Reference:methylmalonic-acidemia-with-homocystinuria;MedGen:C1828210;MedGen:C1848561;MedGen:CN220153;OMIM:153870;OMIM:277400;Office of Rare Diseases:3579;Office of Rare Diseases:9887;Orphanet:251287;Orphanet:26;Orphanet:79282;SNOMED CT:424169002 -1 45508848 G A CompoundHeterozygote 218900 RCV000203236 16464 MMACHC NM_015506.2:c.482G>A NP_056321.2:p.Arg161Gln NM_015506.2:c.482G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Bull's eye maculopathy;Methylmalonic acidemia with homocystinuria 20301503,23806086,24088041,25687216 Autosomal dominant inheritance All ages;Childhood <1 / 1 000 000 inherited GeneReviews:NBK1328;Genetic Alliance:Methylmalonic+acidemia+with+homocystinuria/4715;Genetics Home Reference:methylmalonic-acidemia-with-homocystinuria;MedGen:C1828210;MedGen:C1848561;MedGen:CN220153;OMIM:153870;OMIM:277400;Office of Rare Diseases:3579;Office of Rare Diseases:9887;Orphanet:251287;Orphanet:26;Orphanet:79282;SNOMED CT:424169002 -1 53210729 T G Haplotype 30118 RCV000023026 39073 CPT2 NM_000098.2:c.1055T>G NP_000089.1:p.Phe352Cys NM_000098.2:c.1055T>G:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315,18306170,20934285,21697855 Childhood germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 -1 53210776 G A Haplotype 30118 RCV000023026 39074 CPT2 NM_000098.2:c.1102G>A NP_000089.1:p.Val368Ile NM_000098.2:c.1102G>A:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315,18306170,20934285,21697855 Childhood germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 -1 53210911 CAG C Haplotype 60702 RCV000202553 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476,20301431,25173338 Autosomal recessive inheritance germline GeneReviews:NBK1253;Genetic Testing Registry (GTR):GTR000530033;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552216;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 -1 53211016 T C Haplotype 60702 RCV000202553 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Pathogenic;other 1 0 0 criteria provided, single submitter 1 GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476,20301431,25173338 Autosomal recessive inheritance germline GeneReviews:NBK1253;Genetic Testing Registry (GTR):GTR000530033;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552216;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 -1 54865405 C G Haplotype 4368 RCV000004616 38433 DHCR24 NM_014762.3:c.918G>C NP_055577.1:p.Lys306Asn NM_014762.3:c.918G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 Antenatal <1 / 1 000 000 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 -1 54865442 T G Haplotype 4368 RCV000004616 19407 DHCR24 NM_014762.3:c.881A>C NP_055577.1:p.Asn294Thr NM_014762.3:c.881A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 Antenatal <1 / 1 000 000 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 -1 94001992 C G Haplotype 236131 RCV000408516 22923 ABCA4 NM_000350.2:c.6148G>C NP_000341.2:p.Val2050Leu NM_000350.2:c.6148G>C:missense variant Likely benign;Likely pathogenic;Pathogenic;Uncertain significance;not provided 1 1 1 criteria provided, conflicting interpretations 1 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94005499 C T Haplotype 236068 RCV000408532 105317 ABCA4 NM_000350.2:c.6089G>A NP_000341.2:p.Arg2030Gln NM_000350.2:c.6089G>A:missense variant Likely pathogenic;Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94008251 C T CompoundHeterozygote 216882 RCV000197749 22927 ABCA4 NM_000350.2:c.5882G>A NP_000341.2:p.Gly1961Glu NM_000350.2:c.5882G>A:missense variant Likely pathogenic;Pathogenic;not provided;risk factor 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Stargardt disease 1;Stargardt disease 1 25326637 Autosomal recessive inheritance Adolescent 1-5 / 10 000 unknown Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94014622 G T Haplotype 236131 RCV000408516 105260 ABCA4 NM_000350.2:c.5381C>A NP_000341.2:p.Ala1794Asp NM_000350.2:c.5381C>A:missense variant not provided 0 0 0 no assertion provided 0 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94019625 A C Haplotype 236092 RCV000408474 237656 ABCA4 NM_000350.2:c.5153T>G NP_000341.2:p.Val1718Gly NM_000350.2:c.5153T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94027417 G A Haplotype 225694 RCV000211040 227509 ABCA4 NM_000350.2:c.4539+2028C>T NM_000350.2:c.4539+2028C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94042800 T A Haplotype 236091 RCV000408579 237681 ABCA4 NM_000350.2:c.3289A>T NP_000341.2:p.Arg1097Ter NM_000350.2:c.3289A>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94043413 G A Haplotype 7901 RCV000008358;RCV000008359 22933 ABCA4 NM_000350.2:c.3113C>T NP_000341.2:p.Ala1038Val NM_000350.2:c.3113C>T:missense variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Stargardt disease 1;STARGARDT DISEASE 1;Cone-rod dystrophy 3 10958761,10958763,12796258,16103129 Autosomal recessive inheritance Adolescent;Childhood 1-5 / 10 000;1-9 / 100 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;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 -1 94051698 C G CompoundHeterozygote;Haplotype 216882;236091;236092 RCV000197749;RCV000408579;RCV000408474 22918 ABCA4 NM_000350.2:c.2588G>C NP_000341.2:p.Gly863Ala NM_000350.2:c.2588G>C:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations 1 UCLA Clinical Genomics Center, UCLA;Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 25326637;28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 unknown;germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94063250 A G Haplotype 7901 RCV000008358;RCV000008359 22940 ABCA4 NM_000350.2:c.1622T>C NP_000341.2:p.Leu541Pro NM_000350.2:c.1622T>C:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations 1 OMIM Stargardt disease 1;STARGARDT DISEASE 1;Cone-rod dystrophy 3 10958761,10958763,12796258,16103129 Autosomal recessive inheritance Adolescent;Childhood 1-5 / 10 000;1-9 / 100 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;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 -1 94111370 G A Haplotype 225694 RCV000211040 227508 ABCA4 NM_000350.2:c.302+68C>T NM_000350.2:c.302+68C>T:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 94121045 T C Haplotype 236068 RCV000408532 104999 ABCA4 NM_000350.2:c.1A>G NP_000341.2:p.Met1Val NM_000350.2:c.1A>G:missense variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -1 99864536 T A CompoundHeterozygote 202183 RCV000184029 198606 AGL NM_000642.2:c.611T>A NP_000633.2:p.Leu204Ter NM_000642.2:c.611T>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Glycogen storage disease type III;Glycogen storage disease type III 12955720,20301788,20631546 Autosomal recessive inheritance Childhood 1-9 / 100 000 germline GeneReviews:NBK26372;Genetic Alliance:Glycogen+Storage+Disease+Type+3/3123;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0017922;OMIM:232400;Orphanet:366;SNOMED CT:66937008 -1 99875455 G A CompoundHeterozygote 202183 RCV000184029 198607 AGL NM_000642.2:c.1283G>A NP_000633.2:p.Arg428Lys NM_000642.2:c.1283G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Glycogen storage disease type III;Glycogen storage disease type III 12955720,20301788,20631546 Autosomal recessive inheritance Childhood 1-9 / 100 000 germline GeneReviews:NBK26372;Genetic Alliance:Glycogen+Storage+Disease+Type+3/3123;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0017922;OMIM:232400;Orphanet:366;SNOMED CT:66937008 -1 115726998 T C Haplotype 228471 RCV000217394 44436 CASQ2 NM_001232.3:c.731A>G NP_001223.2:p.His244Arg NM_001232.3:c.731A>G:missense variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 115726999 G A Haplotype 228471 RCV000217394 228262 CASQ2 NM_001232.3:c.730C>T NP_001223.2:p.His244Tyr NM_001232.3:c.730C>T:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 155235003 G A CompoundHeterozygote 236404 RCV000225494 237954 GBA NM_001005741.2:c.1603C>T NP_001005741.1:p.Arg535Cys NM_001005741.2:c.1603C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Gaucher's disease, type 1;Hepatomegaly;Splenomegaly;Strabismus;Infantile muscular hypotonia;Storage cells in bone marrow suggestive of Gaucher Disease 18197057,19888064,20301446 All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;HP:HP:0000486;HP:HP:0001744;HP:HP:0002240;HP:HP:0008947;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 -1 155235203 C G Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 38385 GBA NM_001005741.2:c.1497G>C NP_001005741.1:p.Val499= NM_001005741.2:c.1497G>C:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993,1437405,1594045,18197057,1972019,19888064,20301446,2349952,2914709,7857677,8929950;10685993,1437405,1594045,1972019,20301446,2349952,2914709,7857677,8929950 Autosomal recessive inheritance All ages 1-9 / 100 000 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;Genetic Testing Registry (GTR):GTR000552033;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 -1 155235217 C G Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 38384 GBA NM_001005741.2:c.1483G>C NP_001005741.1:p.Ala495Pro NM_001005741.2:c.1483G>C:missense variant Benign 0 1 0 criteria provided, single submitter 1 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993,1437405,1594045,18197057,1972019,19888064,20301446,2349952,2914709,7857677,8929950;10685993,1437405,1594045,1972019,20301446,2349952,2914709,7857677,8929950 Autosomal recessive inheritance All ages 1-9 / 100 000 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;Genetic Testing Registry (GTR):GTR000552033;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 -1 155235252 A G CompoundHeterozygote;Haplotype 236401;236403;4297 RCV000225500;RCV000225393;RCV000004533;RCV000004534;RCV000004535;RCV000004536 19327 GBA NM_001005741.2:c.1448T>C NP_001005741.1:p.Leu483Pro NM_001005741.2:c.1448T>C:missense variant Pathogenic;risk factor 1 0 0 criteria provided, multiple submitters, no conflicts 2 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics;OMIM Gaucher's disease, type 1;Tricuspid regurgitation;Mild Hepatomegaly with peripancreatic nodus;Storage cells in bone marrow suggestive of Gaucher Disease;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 18197057,19888064,20301446;10685993,1437405,1594045,18197057,1972019,19888064,20301446,2349952,2914709,7857677,8929950;10685993,1437405,1594045,1972019,20301446,2349952,2914709,7857677,8929950 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;HP:HP:0005180;Genetic Alliance:Gaucher+Disease+Type+2/3003;Genetic Testing Registry (GTR):GTR000552033;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 -1 155235727 C G Haplotype 4334 RCV000004580;RCV000004581 19332 GBA NM_001005741.2:c.1342G>C NP_001005741.1:p.Asp448His NM_001005741.2:c.1342G>C:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354,20301446 Autosomal recessive inheritance All ages germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;Genetic Testing Registry (GTR):GTR000552033;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 -1 155236272 C A CompoundHeterozygote 236404 RCV000225494 237957 GBA NM_001005741.2:c.1197G>T NP_001005741.1:p.Gly399= NM_001005741.2:c.1197G>T:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Gaucher's disease, type 1;Hepatomegaly;Splenomegaly;Strabismus;Infantile muscular hypotonia;Storage cells in bone marrow suggestive of Gaucher Disease 18197057,19888064,20301446 All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;HP:HP:0000486;HP:HP:0001744;HP:HP:0002240;HP:HP:0008947;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 -1 155236376 C T Haplotype 4299 RCV000004538 38432 GBA NM_001005741.2:c.1093G>A NP_001005741.1:p.Glu365Lys NM_001005741.2:c.1093G>A:missense variant Benign;risk factor 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I 10079102,11903352,15146461,18197057,1864608,19888064,20301446 All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 -1 155237458 A C Haplotype 4334 RCV000004580;RCV000004581 19373 GBA NM_001005741.2:c.882T>G NP_001005741.1:p.His294Gln NM_001005741.2:c.882T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354,20301446 Autosomal recessive inheritance All ages germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;Genetic Testing Registry (GTR):GTR000552033;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 -1 155238570 C G Haplotype 4299 RCV000004538 19338 GBA NM_001005741.2:c.535G>C NP_001005741.1:p.Asp179His NM_001005741.2:c.535G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I 10079102,11903352,15146461,18197057,1864608,19888064,20301446 All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 -1 155239663 G A CompoundHeterozygote 236401 RCV000225500 237961 GBA NM_001005741.2:c.407C>T NP_001005741.1:p.Ser136Leu NM_001005741.2:c.407C>T:missense variant;NM_001171812.1:c.307+223C>T:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Gaucher's disease, type 1 18197057,19888064,20301446 All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 -1 155240026 A C CompoundHeterozygote 236403 RCV000225393 237962 GBA NM_001005741.2:c.167T>G NP_001005741.1:p.Val56Gly NM_001005741.2:c.167T>G:missense variant;NM_001171811.1:c.-95T>G:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Gaucher's disease, type 1;Tricuspid regurgitation;Mild Hepatomegaly with peripancreatic nodus;Storage cells in bone marrow suggestive of Gaucher Disease 18197057,19888064,20301446 All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;HP:HP:0005180;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 -1 156860959 C T Haplotype 12304 RCV000030667 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 1 0 0 no assertion criteria provided 0 OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344,11159935,20301726 Childhood 1-9 / 1 000 000 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 -1 156879126 C T Haplotype 12304 RCV000030667 38397 NTRK1 NM_002529.3:c.1810C>T NP_002520.2:p.His604Tyr NM_001007792.1:c.1702C>T:missense variant Benign;Likely benign;Pathogenic 1 1 1 criteria provided, conflicting interpretations 1 OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344,11159935,20301726 Childhood 1-9 / 1 000 000 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 -1 156879154 G T Haplotype 12304 RCV000030667 27347 NTRK1 NM_002529.3:c.1838G>T NP_002520.2:p.Gly613Val NM_001007792.1:c.1730G>T:missense variant Benign;Likely benign;Pathogenic 1 1 1 criteria provided, conflicting interpretations 1 OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344,11159935,20301726 Childhood 1-9 / 1 000 000 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 -1 161306427 G C Haplotype 14182 RCV000015246 38403 MPZ NM_000530.7:c.486C>G NP_000521.2:p.Ile162Met NM_000530.7:c.486C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375,20301462,9222756 Autosomal dominant inheritance Adult germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000231905;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509965;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000529452;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 -1 161306774 C T Haplotype 14180 RCV000015243 38402 MPZ NM_000530.7:c.382G>A NP_000521.2:p.Asp128Asn NM_000530.7:c.382G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 -1 161306810 T G Haplotype 14180 RCV000015243 38401 MPZ NM_000530.7:c.346A>C NP_000521.2:p.Asn116His NM_000530.7:c.346A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 -1 161306815 A G Haplotype 14180 RCV000015243 29219 MPZ NM_000530.7:c.341T>C NP_000521.2:p.Ile114Thr NM_000530.7:c.341T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 -1 161306819 C A Haplotype 208147 RCV000194363 49442 MPZ NM_000530.7:c.337G>T NP_000521.2:p.Val113Phe NM_000530.7:c.337G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type IB 19502294,20301384 Autosomal dominant inheritance Adolescent DI-CMTB is a rare cause of CMT. Up to 3.4% of CMT is caused by a DNM2 mutation germline GeneReviews:NBK1205;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000310902;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509930;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000521569;Genetic Testing Registry (GTR):GTR000529452;MedGen:C0270912;OMIM:118200;Office of Rare Diseases:1246;Orphanet:101082;SNOMED CT:42986003 -1 161306882 C T Haplotype 14182 RCV000015246 38404 MPZ NM_000530.7:c.274G>A NP_000521.2:p.Val92Met NM_000530.7:c.274G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375,20301462,9222756 Autosomal dominant inheritance Adult germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000231905;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509965;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000529452;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 -1 161306890 A T Haplotype 14182 RCV000015246 29221 MPZ NM_000530.7:c.266T>A NP_000521.2:p.Ile89Asn NM_000530.7:c.266T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375,20301462,9222756 Autosomal dominant inheritance Adult germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000231905;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509965;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000529452;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 -1 161306915 G A Haplotype 208147 RCV000194363 49438 MPZ NM_000530.7:c.241C>T NP_000521.2:p.His81Tyr NM_000530.7:c.241C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type IB 19502294,20301384 Autosomal dominant inheritance Adolescent DI-CMTB is a rare cause of CMT. Up to 3.4% of CMT is caused by a DNM2 mutation germline GeneReviews:NBK1205;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000310902;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509930;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000521569;Genetic Testing Registry (GTR):GTR000529452;MedGen:C0270912;OMIM:118200;Office of Rare Diseases:1246;Orphanet:101082;SNOMED CT:42986003 -1 161629903 T C Haplotype 36924 RCV000030607 45587 FCGR3B NM_000570.4:c.194A>G NP_000561.3:p.Asn65Ser NM_000570.4:c.194A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Neutrophil-specific antigens na1/na2;NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 2478590 germline MedGen:C4017227 -1 171107825 G A Haplotype 16318;217371 RCV000017711;RCV000201276;RCV000201278 38476 FMO3 NM_006894.5:c.472G>A NP_008825.4:p.Glu158Lys NM_001002294.2:c.472G>A:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10485731,10896299,11809920,20301282,22126753;19321370,20301282,22126753 Autosomal recessive inheritance 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 -1 171108154 T C Haplotype 217371 RCV000201278 214011 FMO3 NM_006894.5:c.560T>C NP_008825.4:p.Val187Ala NM_001002294.2:c.560T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Trimethylaminuria 19321370,20301282,22126753 Autosomal recessive inheritance 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 -1 171114102 A G Haplotype 16318 RCV000017711;RCV000201276 31357 FMO3 NM_006894.5:c.923A>G NP_008825.4:p.Glu308Gly NM_001002294.2:c.923A>G:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10485731,10896299,11809920,20301282,22126753 Autosomal recessive inheritance 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 -1 179575915 C A Haplotype 225143 RCV000210779 227036 NPHS2 NM_014625.3:c.-51G>T NM_014625.3:c.-51G>T:5 prime UTR variant Likely benign;Likely pathogenic 1 1 1 criteria provided, conflicting interpretations 1 Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant Autosomal recessive inheritance All ages unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;Genetic Testing Registry (GTR):GTR000552033;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 -1 179575916 G C Haplotype 225143 RCV000210779 227037 NPHS2 NM_014625.3:c.-52C>G NM_014625.3:c.-52C>G:5 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter 1 Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant Autosomal recessive inheritance All ages unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;Genetic Testing Registry (GTR):GTR000552033;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 -1 183574507 T C Haplotype 2240 RCV000002328 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 9070911 Adolescent 1-9 / 1 000 000 germline Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;Genetics Home Reference:chronic-granulomatous-disease;MedGen:C1856245;OMIM:233710;Orphanet:379 -1 183574509 T A Haplotype 2240 RCV000002328 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 9070911 Adolescent 1-9 / 1 000 000 germline Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;Genetics Home Reference:chronic-granulomatous-disease;MedGen:C1856245;OMIM:233710;Orphanet:379 -1 197086966 G A CompoundHeterozygote 156118 RCV000162061 165918 ASPM NM_018136.4:c.10168C>T NP_060606.3:p.Arg3390Ter NM_018136.4:c.10168C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 Medical Research Institute,Tokyo Medical and Dental University Primary autosomal recessive microcephaly 5;Primary autosomal recessive microcephaly 5 20301772,25786579 Autosomal recessive inheritance Antenatal 1-9 / 1 000 000 germline GeneReviews:NBK9587;Genetic Alliance:Primary+autosomal+recessive+microcephaly+5/9159;Genetic Testing Registry (GTR):GTR000319354;Genetic Testing Registry (GTR):GTR000500121;Genetic Testing Registry (GTR):GTR000500373;Genetic Testing Registry (GTR):GTR000507771;Genetic Testing Registry (GTR):GTR000512732;Genetic Testing Registry (GTR):GTR000515566;Genetic Testing Registry (GTR):GTR000527475;MedGen:C1837501;OMIM:608716;Orphanet:2512 -1 197101153 G A CompoundHeterozygote 156118 RCV000162061 165917 ASPM NM_018136.4:c.8098C>T NP_060606.3:p.Arg2700Ter NM_001206846.1:c.4066-4989C>T:intron variant;NM_018136.4:c.8098C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Medical Research Institute,Tokyo Medical and Dental University Primary autosomal recessive microcephaly 5;Primary autosomal recessive microcephaly 5 20301772,25786579 Autosomal recessive inheritance Antenatal 1-9 / 1 000 000 germline GeneReviews:NBK9587;Genetic Alliance:Primary+autosomal+recessive+microcephaly+5/9159;Genetic Testing Registry (GTR):GTR000319354;Genetic Testing Registry (GTR):GTR000500121;Genetic Testing Registry (GTR):GTR000500373;Genetic Testing Registry (GTR):GTR000507771;Genetic Testing Registry (GTR):GTR000512732;Genetic Testing Registry (GTR):GTR000515566;Genetic Testing Registry (GTR):GTR000527475;MedGen:C1837501;OMIM:608716;Orphanet:2512 -1 209706871 C CA Haplotype 8911 RCV000009466 23950 HSD11B1 NM_181755.2:c.331+53dupA NM_181755.2:c.331+53dupA:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176,15827106,16091483,16817821,17062770 <1 / 1 000 000 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 -1 209706914 T G Haplotype 8911 RCV000009466 76328 HSD11B1 NM_181755.2:c.332-29T>G NM_181755.2:c.332-29T>G:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176,15827106,16091483,16817821,17062770 <1 / 1 000 000 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 -1 210919955 C G Haplotype 203434 RCV000185594 181518 KCNH1 NM_172362.2:c.1147G>C NP_758872.1:p.Val383Leu NM_172362.2:c.1147G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964,25915598 Infancy <1 / 1 000 000 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 -1 210920047 G T Haplotype 203434 RCV000185594 181521 KCNH1 NM_002238.3:c.974C>A NP_758872.1:p.Ser352Tyr NM_172362.2:c.1055C>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964,25915598 Infancy <1 / 1 000 000 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 -1 215680343 C T CompoundHeterozygote 202177 RCV000184023 198603 USH2A NM_206933.2:c.12100G>A NP_996816.2:p.Glu4034Lys NM_206933.2:c.12100G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Usher syndrome, type 2A;Usher syndrome, type 2A 18484607,19881469,20301515,21697857 1-9 / 100 000 germline GeneReviews:NBK1341;Genetic Alliance:Usher+syndrome%2C+type+2A/7323;MedGen:C1848634;OMIM:276901;OMIM:608400.0001;OMIM:608400.0002;OMIM:608400.0003;OMIM:608400.0004;OMIM:608400.0005;OMIM:608400.0007;OMIM:608400.0008;OMIM:608400.0009;OMIM:608400.0010;OMIM:608400.0011;OMIM:608400.0013;OMIM:608400.0014;OMIM:608400.0015;OMIM:612971.0001;Office of Rare Diseases:5440;Orphanet:231178;Orphanet:886 -1 216200070 T C CompoundHeterozygote 236060 RCV000225035 237598 USH2A NM_206933.2:c.3368A>G NP_996816.2:p.Tyr1123Cys NM_206933.2:c.3368A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Non-syndromic genetic deafness Autosomal recessive inheritance germline Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:nonsyndromic-hearing-loss;MedGen:CN043648;Orphanet:87884;Orphanet:ORPHA87884 -1 216200071 A G CompoundHeterozygote 202177 RCV000184023 198604 USH2A NM_206933.2:c.3367T>C NP_996816.2:p.Tyr1123His NM_206933.2:c.3367T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Usher syndrome, type 2A;Usher syndrome, type 2A 18484607,19881469,20301515,21697857 1-9 / 100 000 germline GeneReviews:NBK1341;Genetic Alliance:Usher+syndrome%2C+type+2A/7323;MedGen:C1848634;OMIM:276901;OMIM:608400.0001;OMIM:608400.0002;OMIM:608400.0003;OMIM:608400.0004;OMIM:608400.0005;OMIM:608400.0007;OMIM:608400.0008;OMIM:608400.0009;OMIM:608400.0010;OMIM:608400.0011;OMIM:608400.0013;OMIM:608400.0014;OMIM:608400.0015;OMIM:612971.0001;Office of Rare Diseases:5440;Orphanet:231178;Orphanet:886 -1 216422095 T TGTAC CompoundHeterozygote 236060 RCV000225035 237599 USH2A NM_206933.2:c.240_241insGTAC NP_996816.2:p.Gln81Valfs NM_206933.2:c.240_241insGTAC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Non-syndromic genetic deafness Autosomal recessive inheritance germline Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:nonsyndromic-hearing-loss;MedGen:CN043648;Orphanet:87884;Orphanet:ORPHA87884 -1 226982996 C T Haplotype 217876 RCV000201953 214530 COQ8A NM_020247.4:c.1042C>T NP_064632.2:p.Arg348Ter NM_020247.4:c.1042C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072,20580948 Childhood <1 / 1 000 000 germline Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 -1 226985332 G A Haplotype 217876 RCV000201953 18675 COQ8A NM_020247.4:c.1651G>A NP_064632.2:p.Glu551Lys NM_020247.4:c.1651G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072,20580948 Childhood <1 / 1 000 000 germline Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 -1 229432787 G A Haplotype 18293 RCV000019955 38498 ACTA1 NM_001100.3:c.223C>T NP_001091.1:p.His75Tyr NM_001100.3:c.223C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116,20301465,22510848 Autosomal recessive inheritance germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;Genetic Testing Registry (GTR):GTR000502403;Genetic Testing Registry (GTR):GTR000502456;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000519025;Genetic Testing Registry (GTR):GTR000522325;Genetic Testing Registry (GTR):GTR000552030;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 -1 229432788 C A Haplotype 18293 RCV000019955 33332 ACTA1 NM_001100.3:c.222G>T NP_001091.1:p.Glu74Asp NM_001100.3:c.222G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116,20301465,22510848 Autosomal recessive inheritance germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;Genetic Testing Registry (GTR):GTR000502403;Genetic Testing Registry (GTR):GTR000502456;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000519025;Genetic Testing Registry (GTR):GTR000522325;Genetic Testing Registry (GTR):GTR000552030;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 -1 235458649 C T CompoundHeterozygote 216893 RCV000195857 213521 B3GALNT2 NM_152490.4:c.979G>A NP_689703.1:p.Asp327Asn NM_152490.4:c.979G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11 25326637 Infancy <1 / 1 000 000 germline MedGen:C3554638;OMIM:615181;Orphanet:588;Orphanet:899 -2 26462182 C T CompoundHeterozygote 236047 RCV000225066 57420 OTOF NM_194248.2:c.5193-1G>A NM_194248.2:c.5193-1G>A:splice acceptor variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 9 18381613,20301429,20301607 Infancy germline GeneReviews:NBK1251;Genetic Alliance:Deafness%2C+autosomal+recessive+9/8190;MedGen:C1832828;OMIM:601071;OMIM:603681.0011;OMIM:603681.0013;Orphanet:90636 -2 26463969 C G CompoundHeterozygote 216980 RCV000195955 57417 OTOF NM_194248.2:c.5098G>C NP_919224.1:p.Glu1700Gln NM_194248.2:c.5098G>C:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Deafness, autosomal recessive 9;Deafness, autosomal recessive 9 20301429,20301607,25326637 Infancy germline GeneReviews:NBK1251;Genetic Alliance:Deafness%2C+autosomal+recessive+9/8190;MedGen:C1832828;OMIM:601071;OMIM:603681.0011;OMIM:603681.0013;Orphanet:90636 -2 26467364 C A CompoundHeterozygote 236047 RCV000225066 76710 OTOF NM_194248.2:c.4227+1G>T NM_194248.2:c.4227+1G>T:splice donor variant Pathogenic 1 0 0 no assertion criteria provided 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 9 18381613,20301429,20301607 Infancy germline GeneReviews:NBK1251;Genetic Alliance:Deafness%2C+autosomal+recessive+9/8190;MedGen:C1832828;OMIM:601071;OMIM:603681.0011;OMIM:603681.0013;Orphanet:90636 -2 26470685 C CCTT CompoundHeterozygote 216980 RCV000195955 213537 OTOF NM_194248.2:c.3928_3930dupAAG NP_919224.1:p.Lys1310_Gly1311insLys NM_194248.2:c.3928_3930dupAAG:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Deafness, autosomal recessive 9;Deafness, autosomal recessive 9 20301429,20301607,25326637 Infancy germline GeneReviews:NBK1251;Genetic Alliance:Deafness%2C+autosomal+recessive+9/8190;MedGen:C1832828;OMIM:601071;OMIM:603681.0011;OMIM:603681.0013;Orphanet:90636 -2 31529311 G C CompoundHeterozygote 375279 RCV000416333 362050 SRD5A2 NM_000348.3:c.694C>G NP_000339.2:p.His232Asp NM_000348.3:c.694C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 25741868 Autosomal recessive inheritance Adolescent loss of function inherited Genetic Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608;Genetic Testing Registry (GTR):GTR000500408;Genetic Testing Registry (GTR):GTR000508993;Genetic Testing Registry (GTR):GTR000528277;MedGen:C0268297;OMIM:264600;Office of Rare Diseases:5680;Orphanet:753;SNOMED CT:57514000 -2 31529325 C T CompoundHeterozygote 375261;375279 RCV000416356;RCV000416333 18390 SRD5A2 NM_000348.3:c.680G>A NP_000339.2:p.Arg227Gln NM_000348.3:c.680G>A:missense variant Pathogenic;not provided 1 0 0 criteria provided, single submitter 1 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 25741868 Autosomal recessive inheritance Adolescent loss of function inherited Genetic Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608;Genetic Testing Registry (GTR):GTR000500408;Genetic Testing Registry (GTR):GTR000508993;Genetic Testing Registry (GTR):GTR000528277;MedGen:C0268297;OMIM:264600;Office of Rare Diseases:5680;Orphanet:753;SNOMED CT:57514000 -2 31529466 A C CompoundHeterozygote 375261 RCV000416356 361962 SRD5A2 NM_000348.3:c.548-9T>G NM_000348.3:c.548-9T>G:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 25741868 Autosomal recessive inheritance Adolescent loss of function inherited Genetic Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608;Genetic Testing Registry (GTR):GTR000500408;Genetic Testing Registry (GTR):GTR000508993;Genetic Testing Registry (GTR):GTR000528277;MedGen:C0268297;OMIM:264600;Office of Rare Diseases:5680;Orphanet:753;SNOMED CT:57514000 -2 47046329 A G Haplotype 190388 RCV000170526 188215 TTC7A NM_020458.3:c.1817A>G NP_065191.2:p.Lys606Arg NM_001288953.1:c.1715A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 Neonatal 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;SNOMED CT:95472001 -2 47050043 T C Haplotype 190388 RCV000170526 188216 TTC7A NM_020458.3:c.2014T>C NP_065191.2:p.Ser672Pro NM_001288953.1:c.1912T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 Neonatal 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;SNOMED CT:95472001 -2 71568083 G A CompoundHeterozygote 216923;224664 RCV000200599;RCV000229450 100191 DYSF NM_001130987.1:c.2697+1G>A NM_003494.3:c.2643+1G>A:splice donor variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA;Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy, type 2B 20301480,20301582,25326637,27854218;20301480,20301582,27854218 Autosomal recessive inheritance Adult 1-9 / 1 000 000 unknown GeneReviews:NBK1303;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237;Genetic Testing Registry (GTR):GTR000502388;Genetic Testing Registry (GTR):GTR000502442;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000507919;Genetic Testing Registry (GTR):GTR000508632;MedGen:C1850889;OMIM:253601;Office of Rare Diseases:8574;Orphanet:268 -2 71570680 G A CompoundHeterozygote 224664 RCV000229450 226470 DYSF NM_001130987.1:c.3167G>A NP_001124459.1:p.Arg1056Gln NM_003494.3:c.3113G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy, type 2B 20301480,20301582,27854218 Autosomal recessive inheritance Adult 1-9 / 1 000 000 unknown GeneReviews:NBK1303;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237;Genetic Testing Registry (GTR):GTR000502388;Genetic Testing Registry (GTR):GTR000502442;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000507919;Genetic Testing Registry (GTR):GTR000508632;MedGen:C1850889;OMIM:253601;Office of Rare Diseases:8574;Orphanet:268 -2 71590280 CTT C CompoundHeterozygote 216922 RCV000198403 213540 DYSF NM_001130987.1:c.3570_3571delTT NP_001124459.1:p.Ser1191Terfs NM_003494.3:c.3516_3517delTT:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Myopathy, distal, with anterior tibial onset;Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Myopathy, distal, with anterior tibial onset 20301480,20301582,25313375,25326637 Autosomal recessive inheritance Adolescent;Adult 1-9 / 1 000 000;<1 / 1 000 000 unknown GeneReviews:NBK1303;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237;Genetic Alliance:Miyoshi+myopathy/4842;Genetic Alliance:Myopathy%2C+distal%2C+with+anterior+tibial+onset/8954;Genetic Testing Registry (GTR):GTR000502388;Genetic Testing Registry (GTR):GTR000502442;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000507919;Genetic Testing Registry (GTR):GTR000508632;Genetic Testing Registry (GTR):GTR000518949;MedGen:C1847532;MedGen:C1850808;MedGen:C1850889;OMIM:253601;OMIM:254130;OMIM:606768;Office of Rare Diseases:8574;Orphanet:178400;Orphanet:268;Orphanet:45448 -2 71656229 A C CompoundHeterozygote 216923 RCV000200599 100227 DYSF NM_001130987.1:c.4694A>C NP_001124459.1:p.Lys1565Thr NM_003494.3:c.4577A>C:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 UCLA Clinical Genomics Center, UCLA Limb-girdle muscular dystrophy, type 2B;Limb-girdle muscular dystrophy, type 2B 20301480,20301582,25326637,27854218 Autosomal recessive inheritance Adult 1-9 / 1 000 000 unknown GeneReviews:NBK1303;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237;Genetic Testing Registry (GTR):GTR000502388;Genetic Testing Registry (GTR):GTR000502442;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000507919;Genetic Testing Registry (GTR):GTR000508632;MedGen:C1850889;OMIM:253601;Office of Rare Diseases:8574;Orphanet:268 -2 71665182 G A CompoundHeterozygote 216922 RCV000198403 213541 DYSF NM_001130987.1:c.5195G>A NP_001124459.1:p.Arg1732Gln NM_003494.3:c.5078G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Myopathy, distal, with anterior tibial onset;Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Myopathy, distal, with anterior tibial onset 20301480,20301582,25313375,25326637 Autosomal recessive inheritance Adolescent;Adult 1-9 / 1 000 000;<1 / 1 000 000 unknown GeneReviews:NBK1303;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237;Genetic Alliance:Miyoshi+myopathy/4842;Genetic Alliance:Myopathy%2C+distal%2C+with+anterior+tibial+onset/8954;Genetic Testing Registry (GTR):GTR000502388;Genetic Testing Registry (GTR):GTR000502442;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000507919;Genetic Testing Registry (GTR):GTR000508632;Genetic Testing Registry (GTR):GTR000518949;MedGen:C1847532;MedGen:C1850808;MedGen:C1850889;OMIM:253601;OMIM:254130;OMIM:606768;Office of Rare Diseases:8574;Orphanet:178400;Orphanet:268;Orphanet:45448 -2 86217101 T C Distinct chromosomes 157528 RCV000144873 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -2 99162763 G A CompoundHeterozygote 216957 RCV000197242 213542 LIPT1 NM_145199.2:c.806G>A NP_660200.1:p.Trp269Ter NM_015929.3:c.806G>A:nonsense;NR_037935.1:n.1291G>A:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Lipoyltransferase 1 deficiency;LIPOYLTRANSFERASE 1 DEFICIENCY 25326637 Neonatal <1 / 1 000 000 germline MedGen:CN230008;OMIM:616299;Orphanet:401862 -2 99162937 T G CompoundHeterozygote 216957 RCV000197242 213543 LIPT1 NM_145199.2:c.980T>G NP_660200.1:p.Leu327Ter NM_015929.3:c.980T>G:nonsense;NR_037935.1:n.1465T>G:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Lipoyltransferase 1 deficiency;LIPOYLTRANSFERASE 1 DEFICIENCY 25326637 Neonatal <1 / 1 000 000 germline MedGen:CN230008;OMIM:616299;Orphanet:401862 -2 127654493 G A Haplotype 222901 RCV000208555 224616 LIMS2 NM_001161404.1:c.275C>T NP_001154876.1:p.Pro92Leu NM_001161404.1:c.275C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:CN235330;OMIM:616827 -2 127654507 G C Haplotype 222901 RCV000208555 224615 LIMS2 NM_001136037.2:c.342C>G NP_001154876.1:p.Asn87Lys NM_001161404.1:c.261C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:CN235330;OMIM:616827 -2 130342034 A G CompoundHeterozygote 242871 RCV000239375 216019 CCDC115 NM_001321118.1:c.97-90T>C NP_115733.2:p.Leu31Ser NM_001321118.1:c.97-90T>C:intron variant;NM_032357.3:c.92T>C:missense variant;NR_135548.1:n.350T>C:non-coding transcript variant Pathogenic 1 0 0 no assertion criteria provided 0 Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center Congenital disorders of glycosylation type II;Congenital Disorders of Glycosylation type II 26833332 germline MedGen:CN234782 -2 151646139 GTTGA G CompoundHeterozygote 224668 RCV000227541 226443 NEB NM_001271208.1:c.7523_7526delTCAA NP_001258137.1:p.Ile2508Thrfs NM_001271208.1:c.7523_7526delTCAA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Nemaline myopathy 2 20301465,22510848,27854218 Autosomal recessive inheritance unknown GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+2/5124;Genetic Testing Registry (GTR):GTR000502404;Genetic Testing Registry (GTR):GTR000502457;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000508632;Genetic Testing Registry (GTR):GTR000522325;Genetic Testing Registry (GTR):GTR000528456;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552420;MedGen:C1850569;OMIM:256030;Office of Rare Diseases:8335 -2 151650316 C T CompoundHeterozygote 224668 RCV000227541 226444 NEB NM_001271208.1:c.7291G>A NP_001258137.1:p.Glu2431Lys NM_001271208.1:c.7291G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Nemaline myopathy 2 20301465,22510848,27854218 Autosomal recessive inheritance unknown GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+2/5124;Genetic Testing Registry (GTR):GTR000502404;Genetic Testing Registry (GTR):GTR000502457;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000508632;Genetic Testing Registry (GTR):GTR000522325;Genetic Testing Registry (GTR):GTR000528456;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552420;MedGen:C1850569;OMIM:256030;Office of Rare Diseases:8335 -2 166272746 C A Haplotype 30359 RCV000023304 39316 SCN9A NM_002977.3:c.2971G>T NP_002968.1:p.Val991Leu NM_002977.3:c.2971G>T:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 -2 166277030 T G Haplotype 30359 RCV000023304 39315 SCN9A NM_002977.3:c.2794A>C NP_002968.1:p.Met932Leu NM_002977.3:c.2794A>C:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 -2 178527120 CA C CompoundHeterozygote 224671 RCV000228738 226445 TTN-AS1 NM_001267550.2:c.107867delT NP_001254479.2:p.Leu35956Argfs NM_001267550.2:c.107867delT:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Congenital muscular dystrophy 20301468,21078917,24581957,27854218 Autosomal recessive inheritance loss of function unknown GeneReviews:NBK1291;Genetic Alliance:Congenital+Muscular+Dystrophy/1856;Genetic Testing Registry (GTR):GTR000500215;Genetic Testing Registry (GTR):GTR000501939;Genetic Testing Registry (GTR):GTR000501968;Genetic Testing Registry (GTR):GTR000502035;Genetic Testing Registry (GTR):GTR000502038;Genetic Testing Registry (GTR):GTR000502078;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000505516;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000520476;Genetic Testing Registry (GTR):GTR000525319;Genetic Testing Registry (GTR):GTR000552180;MedGen:C0699743;SNOMED CT:240059009 -2 178528797 G A CompoundHeterozygote 217022 RCV000197581 213528 TTN-AS1 NM_133378.4:c.99250C>T NP_001254479.2:p.Arg35652Ter NM_001267550.2:c.106954C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, early-onset, with fatal cardiomyopathy;Limb-girdle muscular dystrophy, type 2J 22238790,25326637 Autosomal recessive inheritance Adolescent;Childhood <1 / 1 000 000 loss of function germline GeneReviews:NBK83297;Genetic Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2j/8928;Genetic Alliance:Myopathy%2C+early-onset%2C+with+fatal+cardiomyopathy/8955;Genetic Testing Registry (GTR):GTR000330311;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000509386;Genetic Testing Registry (GTR):GTR000509454;Genetic Testing Registry (GTR):GTR000519013;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetics Home Reference:limb-girdle-muscular-dystrophy;MedGen:C1837342;MedGen:C2673677;OMIM:608807;OMIM:611705;Orphanet:140922;Orphanet:289377 -2 178529958 A T CompoundHeterozygote 224671 RCV000228738 226446 TTN-AS1 NM_001267550.2:c.106531+2T>A NM_001267550.2:c.106531+2T>A:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Congenital muscular dystrophy 20301468,21078917,24581957,27854218 Autosomal recessive inheritance loss of function unknown GeneReviews:NBK1291;Genetic Alliance:Congenital+Muscular+Dystrophy/1856;Genetic Testing Registry (GTR):GTR000500215;Genetic Testing Registry (GTR):GTR000501939;Genetic Testing Registry (GTR):GTR000501968;Genetic Testing Registry (GTR):GTR000502035;Genetic Testing Registry (GTR):GTR000502038;Genetic Testing Registry (GTR):GTR000502078;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000505516;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000520476;Genetic Testing Registry (GTR):GTR000525319;Genetic Testing Registry (GTR):GTR000552180;MedGen:C0699743;SNOMED CT:240059009 -2 178530461 T G CompoundHeterozygote 224698 RCV000232907 226447 TTN-AS1 NM_001267550.2:c.106154A>C NP_001254479.2:p.Lys35385Thr NM_001267550.2:c.106154A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center not specified;not specified 27854218 unknown MedGen:CN169374 -2 178530595 AC A Haplotype 178839 RCV000155611 172806 TTN-AS1 NM_133378.4:c.98315delG NP_001254479.2:p.Gly35340Valfs NM_001267550.2:c.106019delG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344,23975875,24033266 Autosomal recessive inheritance Childhood germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetic Testing Registry (GTR):GTR000324320;Genetic Testing Registry (GTR):GTR000500129;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000509767;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 -2 178530861 G GT CompoundHeterozygote 217022 RCV000197581 213529 TTN-AS1 NM_133378.4:c.98049dupA NP_001254479.2:p.Arg35252Thrfs NM_001267550.2:c.105753dupA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, early-onset, with fatal cardiomyopathy;Limb-girdle muscular dystrophy, type 2J 22238790,25326637 Autosomal recessive inheritance Adolescent;Childhood <1 / 1 000 000 loss of function germline GeneReviews:NBK83297;Genetic Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2j/8928;Genetic Alliance:Myopathy%2C+early-onset%2C+with+fatal+cardiomyopathy/8955;Genetic Testing Registry (GTR):GTR000330311;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000509386;Genetic Testing Registry (GTR):GTR000509454;Genetic Testing Registry (GTR):GTR000519013;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetics Home Reference:limb-girdle-muscular-dystrophy;MedGen:C1837342;MedGen:C2673677;OMIM:608807;OMIM:611705;Orphanet:140922;Orphanet:289377 -2 178533656 ATTG A CompoundHeterozygote 224676 RCV000230182 226448 TTN-AS1 NM_001267550.2:c.102956_102958delCAA NP_001254479.2:p.Thr34319del NM_001267550.2:c.102956_102958delCAA:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Congenital myopathy 27854218 Autosomal recessive inheritance unknown Genetic Alliance:Myopathy+congenital/5050;Genetic Testing Registry (GTR):GTR000521314;Genetic Testing Registry (GTR):GTR000552206;MedGen:C0270960;OMIM:255300;Office of Rare Diseases:5898 -2 178550076 C T CompoundHeterozygote 224708 RCV000229478 226450 TTN-AS1 NM_001267550.2:c.91762G>A NP_001254479.2:p.Asp30588Asn NM_001267550.2:c.91762G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center not specified;Muscle weakness;not specified 27854218 unknown MedGen:CN169374 -2 178562027 T A CompoundHeterozygote 224700 RCV000234757 226452 TTN-AS1 NM_001267550.2:c.84105A>T NP_001254479.2:p.Leu28035Phe NM_001267550.2:c.84105A>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center not specified;Limb-girdle muscular dystrophy;not specified 27854218 unknown MedGen:CN169374 -2 178562817 T A CompoundHeterozygote 224708 RCV000229478 193229 TTN-AS1 NM_001267550.2:c.83315A>T NP_001254479.2:p.Asn27772Ile NM_001267550.2:c.83315A>T:missense variant Uncertain significance;not provided 0 0 0 criteria provided, multiple submitters, no conflicts 2 Center for Genetic Medicine Research,Children's National Medical Center not specified;Muscle weakness;not specified 27854218 unknown MedGen:CN169374 -2 178569735 ATGTT A Haplotype 178839 RCV000155611 172708 TTN-AS1 NM_001267550.2:c.76393_76396delAACA NP_001254479.2:p.Asn25465Terfs NM_001267550.2:c.76393_76396delAACA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344,23975875,24033266 Autosomal recessive inheritance Childhood germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetic Testing Registry (GTR):GTR000324320;Genetic Testing Registry (GTR):GTR000500129;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000509767;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 -2 178571082 A G CompoundHeterozygote 224706 RCV000232223 226453 TTN-AS1 NM_001267550.2:c.75050T>C NP_001254479.2:p.Ile25017Thr NM_001267550.2:c.75050T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center not specified;Distal myopathy;not specified 27854218 unknown MedGen:CN169374 -2 178579850 T G CompoundHeterozygote 224670 RCV000231033 226454 TTN-AS1 NM_001267550.2:c.67349-2A>C NM_001267550.2:c.67349-2A>C:splice acceptor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Congenital muscular dystrophy 20301468,21078917,24581957,27854218 Autosomal recessive inheritance loss of function unknown GeneReviews:NBK1291;Genetic Alliance:Congenital+Muscular+Dystrophy/1856;Genetic Testing Registry (GTR):GTR000500215;Genetic Testing Registry (GTR):GTR000501939;Genetic Testing Registry (GTR):GTR000501968;Genetic Testing Registry (GTR):GTR000502035;Genetic Testing Registry (GTR):GTR000502038;Genetic Testing Registry (GTR):GTR000502078;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000505516;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000520476;Genetic Testing Registry (GTR):GTR000525319;Genetic Testing Registry (GTR):GTR000552180;MedGen:C0699743;SNOMED CT:240059009 -2 178589003 G A CompoundHeterozygote 224676 RCV000230182 226455 TTN-AS1 NM_001267550.2:c.62722C>T NP_001254479.2:p.Arg20908Ter NM_001267550.2:c.62722C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Congenital myopathy 27854218 Autosomal recessive inheritance unknown Genetic Alliance:Myopathy+congenital/5050;Genetic Testing Registry (GTR):GTR000521314;Genetic Testing Registry (GTR):GTR000552206;MedGen:C0270960;OMIM:255300;Office of Rare Diseases:5898 -2 178591814 T C CompoundHeterozygote 217021 RCV000196059 56322 TTN-AS1 NM_001267550.2:c.60005A>G NP_001254479.2:p.Asp20002Gly NM_001267550.2:c.60005A>G:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 UCLA Clinical Genomics Center, UCLA Dilated cardiomyopathy 1G;Familial hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Familial hypertrophic cardiomyopathy 9 20301486,21267010,25326637 Autosomal dominant inheritance All ages 1-9 / 100 000 unknown GeneReviews:NBK1309;Genetic Alliance:Dilated+cardiomyopathy+1G/8251;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+9/8398;Genetic Testing Registry (GTR):GTR000500751;Genetic Testing Registry (GTR):GTR000501685;Genetic Testing Registry (GTR):GTR000501687;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000508845;Genetic Testing Registry (GTR):GTR000509386;Genetic Testing Registry (GTR):GTR000509454;Genetic Testing Registry (GTR):GTR000509948;Genetic Testing Registry (GTR):GTR000509953;Genetic Testing Registry (GTR):GTR000510811;Genetic Testing Registry (GTR):GTR000511419;Genetic Testing Registry (GTR):GTR000512405;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528521;MedGen:C1858763;MedGen:C1861065;OMIM:604145;OMIM:613765;Orphanet:154 -2 178601260 C G CompoundHeterozygote 224675 RCV000228520 226456 TTN-AS1 NM_001267550.2:c.55732+5G>C NM_001267550.2:c.55732+5G>C:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy, type 2J 27854218 Adolescent <1 / 1 000 000 unknown Genetic Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2j/8928;Genetics Home Reference:limb-girdle-muscular-dystrophy;MedGen:C1837342;OMIM:608807;Orphanet:140922 -2 178607565 T A Haplotype 179465 RCV000156254 56237 TTN-AS1 NM_001267550.2:c.53123A>T NP_597676.3:p.Lys8768Ile NM_001267550.2:c.53123A>T:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -2 178607566 T C Haplotype 179465 RCV000156254 173874 TTN-AS1 NM_001267550.2:c.53122A>G NP_001254479.2:p.Lys17708Glu NM_001267550.2:c.53122A>G:missense variant Likely benign;Uncertain significance;not provided 0 1 0 criteria provided, conflicting interpretations 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -2 178620030 C T CompoundHeterozygote 224706 RCV000232223 56165 TTN-AS1 NM_001267550.2:c.46387G>A NP_001254479.2:p.Gly15463Arg NM_001267550.2:c.46387G>A:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Center for Genetic Medicine Research,Children's National Medical Center not specified;Distal myopathy;not specified 27854218 unknown MedGen:CN169374 -2 178620285 G T CompoundHeterozygote 217021 RCV000196059 213530 TTN NM_001267550.2:c.46236C>A NP_001254479.2:p.Cys15412Ter NM_001267550.2:c.46236C>A:nonsense Likely pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Dilated cardiomyopathy 1G;Familial hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Familial hypertrophic cardiomyopathy 9 20301486,21267010,25326637 Autosomal dominant inheritance All ages 1-9 / 100 000 unknown GeneReviews:NBK1309;Genetic Alliance:Dilated+cardiomyopathy+1G/8251;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+9/8398;Genetic Testing Registry (GTR):GTR000500751;Genetic Testing Registry (GTR):GTR000501685;Genetic Testing Registry (GTR):GTR000501687;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000508845;Genetic Testing Registry (GTR):GTR000509386;Genetic Testing Registry (GTR):GTR000509454;Genetic Testing Registry (GTR):GTR000509948;Genetic Testing Registry (GTR):GTR000509953;Genetic Testing Registry (GTR):GTR000510811;Genetic Testing Registry (GTR):GTR000511419;Genetic Testing Registry (GTR):GTR000512405;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528521;MedGen:C1858763;MedGen:C1861065;OMIM:604145;OMIM:613765;Orphanet:154 -2 178621119 G C CompoundHeterozygote 224698 RCV000232907 56156 TTN NM_001267550.2:c.45599C>G NP_001254479.2:p.Ala15200Gly NM_001267550.2:c.45599C>G:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Center for Genetic Medicine Research,Children's National Medical Center not specified;not specified 27854218 unknown MedGen:CN169374 -2 178634462 GTTTC G CompoundHeterozygote 224670 RCV000231033 226460 TTN NM_001267550.2:c.42315_42318delGAAA NP_001254479.2:p.Lys14105Asnfs NM_001267550.2:c.42315_42318delGAAA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Congenital muscular dystrophy 20301468,21078917,24581957,27854218 Autosomal recessive inheritance loss of function unknown GeneReviews:NBK1291;Genetic Alliance:Congenital+Muscular+Dystrophy/1856;Genetic Testing Registry (GTR):GTR000500215;Genetic Testing Registry (GTR):GTR000501939;Genetic Testing Registry (GTR):GTR000501968;Genetic Testing Registry (GTR):GTR000502035;Genetic Testing Registry (GTR):GTR000502038;Genetic Testing Registry (GTR):GTR000502078;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000505516;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000520476;Genetic Testing Registry (GTR):GTR000525319;Genetic Testing Registry (GTR):GTR000552180;MedGen:C0699743;SNOMED CT:240059009 -2 178634722 C G CompoundHeterozygote 224669 RCV000226930 226461 TTN NM_001267550.2:c.42151+1G>C NM_001267550.2:c.42151+1G>C:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Congenital muscular dystrophy 20301468,21078917,24581957,27854218 Autosomal recessive inheritance loss of function unknown GeneReviews:NBK1291;Genetic Alliance:Congenital+Muscular+Dystrophy/1856;Genetic Testing Registry (GTR):GTR000500215;Genetic Testing Registry (GTR):GTR000501939;Genetic Testing Registry (GTR):GTR000501968;Genetic Testing Registry (GTR):GTR000502035;Genetic Testing Registry (GTR):GTR000502038;Genetic Testing Registry (GTR):GTR000502078;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000505516;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000520476;Genetic Testing Registry (GTR):GTR000525319;Genetic Testing Registry (GTR):GTR000552180;MedGen:C0699743;SNOMED CT:240059009 -2 178651450 T C CompoundHeterozygote 224669 RCV000226930 226462 TTN NM_001267550.2:c.39547+3A>G NM_001267550.2:c.39547+3A>G:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Congenital muscular dystrophy 20301468,21078917,24581957,27854218 Autosomal recessive inheritance loss of function unknown GeneReviews:NBK1291;Genetic Alliance:Congenital+Muscular+Dystrophy/1856;Genetic Testing Registry (GTR):GTR000500215;Genetic Testing Registry (GTR):GTR000501939;Genetic Testing Registry (GTR):GTR000501968;Genetic Testing Registry (GTR):GTR000502035;Genetic Testing Registry (GTR):GTR000502038;Genetic Testing Registry (GTR):GTR000502078;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000505516;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000520476;Genetic Testing Registry (GTR):GTR000525319;Genetic Testing Registry (GTR):GTR000552180;MedGen:C0699743;SNOMED CT:240059009 -2 178684990 C T CompoundHeterozygote 224675 RCV000228520 191309 TTN NM_001267550.2:c.32471-1G>A NM_001267550.2:c.32471-1G>A:splice acceptor variant;NM_003319.4:c.13283-42673G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy, type 2J 27854218 Adolescent <1 / 1 000 000 unknown Genetic Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2j/8928;Genetics Home Reference:limb-girdle-muscular-dystrophy;MedGen:C1837342;OMIM:608807;Orphanet:140922 -2 178738236 T G CompoundHeterozygote 224700 RCV000234757 226465 TTN NM_001267550.2:c.14217A>C NP_001254479.2:p.Glu4739Asp NM_001267550.2:c.14217A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center not specified;Limb-girdle muscular dystrophy;not specified 27854218 unknown MedGen:CN169374 -2 181558617 G A CompoundHeterozygote 216900 RCV000196604 17403 CERKL NM_001030311.2:c.847C>T NP_001025482.1:p.Arg283Ter NM_001030311.2:c.847C>T:nonsense;NM_001030312.2:c.482-8909C>T:intron variant;NR_027689.1:n.674C>T:non-coding transcript variant Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Retinitis pigmentosa 26;Retinitis pigmentosa 26 20301590,25326637 Adolescent 1-5 / 10 000 germline GeneReviews:NBK1417;Genetic Alliance:Retinitis+Pigmentosa+26/6264;MedGen:C1842127;OMIM:608380;Orphanet:791 -2 181566061 T A CompoundHeterozygote 216900 RCV000196604 213531 CERKL NM_201548.4:c.674A>T NP_963842.1:p.Asp225Val NM_001030311.2:c.674A>T:missense variant;NM_001030312.2:c.482-16353A>T:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Retinitis pigmentosa 26;Retinitis pigmentosa 26 20301590,25326637 Adolescent 1-5 / 10 000 germline GeneReviews:NBK1417;Genetic Alliance:Retinitis+Pigmentosa+26/6264;MedGen:C1842127;OMIM:608380;Orphanet:791 -2 188997189 C T Haplotype 101229 RCV000087466 106974 COL3A1 NM_000090.3:c.1786C>T NP_000081.1:p.Arg596Ter NM_000090.3:c.1786C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667,23788249,24882528,25173340,25355838,25356965,27854360 Autosomal dominant inheritance Infancy 1-9 / 100 000 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000501094;Genetic Testing Registry (GTR):GTR000510815;Genetic Testing Registry (GTR):GTR000510818;Genetic Testing Registry (GTR):GTR000519266;Genetic Testing Registry (GTR):GTR000519381;Genetic Testing Registry (GTR):GTR000521913;Genetic Testing Registry (GTR):GTR000525815;Genetic Testing Registry (GTR):GTR000525816;Genetic Testing Registry (GTR):GTR000525817;Genetic Testing Registry (GTR):GTR000525925;Genetic Testing Registry (GTR):GTR000528496;Genetic Testing Registry (GTR):GTR000552603;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 -2 189010205 G A Haplotype 101229 RCV000087466 106975 COL3A1 NM_000090.3:c.3851G>A NP_000081.1:p.Gly1284Glu NM_000090.3:c.3851G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667,23788249,24882528,25173340,25355838,25356965,27854360 Autosomal dominant inheritance Infancy 1-9 / 100 000 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000501094;Genetic Testing Registry (GTR):GTR000510815;Genetic Testing Registry (GTR):GTR000510818;Genetic Testing Registry (GTR):GTR000519266;Genetic Testing Registry (GTR):GTR000519381;Genetic Testing Registry (GTR):GTR000521913;Genetic Testing Registry (GTR):GTR000525815;Genetic Testing Registry (GTR):GTR000525816;Genetic Testing Registry (GTR):GTR000525817;Genetic Testing Registry (GTR):GTR000525925;Genetic Testing Registry (GTR):GTR000528496;Genetic Testing Registry (GTR):GTR000552603;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 -2 200571795 CAG C Haplotype 375673 RCV000417144 362513 SGO2 NM_152524.5:c.1453_1454delGA NP_689737.4:p.Glu485Lysfs NM_152524.5:c.1453_1454delGA:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 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 -2 201709900 G A Haplotype 217879 RCV000201952 214531 ALS2 NM_020919.3:c.4261C>T NP_065970.2:p.Arg1421Ter NM_020919.3:c.4261C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Infantile-onset ascending hereditary spastic paralysis 12919135,18394004,20301421 Autosomal recessive inheritance Infancy <1 / 1 000 000 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 -2 201723325 C G CompoundHeterozygote 42162 RCV000034989 205072 ALS2 NM_020919.3:c.3624+5G>C NM_020919.3:c.3624+5G>C:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Amyotrophic lateral sclerosis type 2;ALS2-Related Disorders 20018642,20301421,20301623 Childhood <1 / 1 000 000 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 -2 201723388 AC A CompoundHeterozygote 42162 RCV000034989 51328 ALS2 NM_020919.3:c.3565delG NP_065970.2:p.Val1189Trpfs NM_020919.3:c.3565delG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Amyotrophic lateral sclerosis type 2;ALS2-Related Disorders 20018642,20301421,20301623 Childhood <1 / 1 000 000 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 -2 201723425 C A CompoundHeterozygote 42138 RCV000034965 205071 ALS2 NM_020919.3:c.3529G>T NP_065970.2:p.Gly1177Ter NM_020919.3:c.3529G>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Infantile-onset ascending hereditary spastic paralysis;ALS2-Related Disorders 18394004,20301421 Autosomal recessive inheritance Infancy <1 / 1 000 000 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 -2 201746653 G T Haplotype 217879 RCV000201952 214532 ALS2 NM_020919.3:c.1911C>A NP_065970.2:p.Tyr637Ter NM_020919.3:c.1911C>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Infantile-onset ascending hereditary spastic paralysis 12919135,18394004,20301421 Autosomal recessive inheritance Infancy <1 / 1 000 000 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 -2 201746738 T TCACTG CompoundHeterozygote 42138 RCV000034965 51304 ALS2 NM_020919.3:c.1821_1825dupCAGTG NP_065970.2:p.Glu609Alafs NM_020919.3:c.1821_1825dupCAGTG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Infantile-onset ascending hereditary spastic paralysis;ALS2-Related Disorders 18394004,20301421 Autosomal recessive inheritance Infancy <1 / 1 000 000 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 -2 227059468 C G CompoundHeterozygote 222054 RCV000207535 223747 COL4A4 NM_000092.4:c.2320G>C NP_000083.3:p.Gly774Arg NM_000092.4:c.2320G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Genetic Diagnostic Laboratory,University of Szeged Alport syndrome, autosomal recessive 20301386,22166944 Childhood 1-9 / 100 000 inherited GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 -2 227253337 G A CompoundHeterozygote 222050 RCV000207840 223750 COL4A3 NM_000091.4:c.687G>A NP_000082.2:p.Arg229= NM_000091.4:c.687G>A:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Genetic Diagnostic Laboratory,University of Szeged Alport syndrome, autosomal recessive 20301386,22166944 Childhood 1-9 / 100 000 inherited GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 -2 227295035 G T CompoundHeterozygote 222050 RCV000207840 223754 COL4A3 NM_000091.4:c.3490G>T NP_000082.2:p.Gly1164Cys NM_000091.4:c.3490G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Genetic Diagnostic Laboratory,University of Szeged Alport syndrome, autosomal recessive 20301386,22166944 Childhood 1-9 / 100 000 inherited GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 -2 232484156 G A Haplotype 235817 RCV000224367 48091 ECEL1 NM_004826.3:c.1252C>T NP_004817.2:p.Arg418Cys NM_004826.3:c.1252C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 -2 232484156 G T Haplotype 235818 RCV000224716 48089 ECEL1 NM_004826.3:c.1252C>A NP_004817.2:p.Arg418Ser NM_004826.3:c.1252C>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 -2 232484469 T A Haplotype 235818 RCV000224716 48090 ECEL1 NM_004826.3:c.1184+3A>T NM_004826.3:c.1184+3A>T:intron variant Pathogenic 1 0 0 no assertion criteria provided 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 -2 232485078 T C Haplotype 235820 RCV000224404 237475 ECEL1 NM_004826.3:c.869A>G NP_004817.2:p.Tyr290Cys NM_004826.3:c.869A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 -2 232485253 CCCAT AGC Haplotype 235820 RCV000224404 237476 ECEL1 NM_004826.3:c.797_801delATGGGinsGCT NP_004817.2:p.Asp266Glyfs NM_004826.3:c.797_801delATGGGinsGCT:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 -2 232485937 G GT Haplotype 235821 RCV000224209 48087 ECEL1 NM_004826.3:c.716dupA NP_004817.2:p.Tyr239Terfs NM_004826.3:c.716dupA:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 -2 232486064 C T Haplotype 235817 RCV000224367 48092 ECEL1 NM_004826.3:c.590G>A NP_004817.2:p.Gly197Asp NM_004826.3:c.590G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 -2 232486298 CTGGCGTCCAGGT C Haplotype 235821 RCV000224209 48088 ECEL1 NM_004826.3:c.344_355delACCTGGACGCCA NP_004817.2:p.Asn115_Ala118del NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant Pathogenic 1 0 0 no assertion criteria provided 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 -2 232526549 G T CompoundHeterozygote 156549 RCV000191950 166332 CHRND NM_000751.2:c.73G>T NP_000742.1:p.Glu25Ter NM_000751.2:c.73G>T:nonsense;NM_001311195.1:c.-199G>T:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Department of Neurology,Children's Hospital of Fudan University Congenital myasthenic syndrome 1B, fast-channel;ptosis;external ophthalmoplegia;Myasthenic syndrome, congenital, fast-channel Infancy 1-9 / 1 000 000 germline Genetic Alliance:Myasthenic+syndrome%2C+congenital%2C+fast-channel/8933;MedGen:C1837122;OMIM:608930;Orphanet:590 -2 232534290 A G CompoundHeterozygote 156549 RCV000191950 166333 CHRND NM_000751.2:c.1319A>G NP_000742.1:p.Asp440Gly NM_000751.2:c.1319A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Department of Neurology,Children's Hospital of Fudan University Congenital myasthenic syndrome 1B, fast-channel;ptosis;external ophthalmoplegia;Myasthenic syndrome, congenital, fast-channel Infancy 1-9 / 1 000 000 germline Genetic Alliance:Myasthenic+syndrome%2C+congenital%2C+fast-channel/8933;MedGen:C1837122;OMIM:608930;Orphanet:590 -2 237350166 CG C CompoundHeterozygote 202179 RCV000184025 198611 COL6A3 NM_004369.3:c.6859delC NP_004360.2:p.Arg2287Glyfs NM_004369.3:c.6859delC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Bethlem myopathy 1 15689448,20301468,20301676,21078917,21943391 Autosomal dominant inheritance;Autosomal recessive inheritance Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1503;Genetic Testing Registry (GTR):GTR000501723;Genetic Testing Registry (GTR):GTR000501724;Genetic Testing Registry (GTR):GTR000501725;Genetic Testing Registry (GTR):GTR000502431;Genetic Testing Registry (GTR):GTR000502432;Genetic Testing Registry (GTR):GTR000502434;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508852;Genetic Testing Registry (GTR):GTR000512784;Genetic Testing Registry (GTR):GTR000519374;Genetic Testing Registry (GTR):GTR000519375;Genetic Testing Registry (GTR):GTR000519376;Genetic Testing Registry (GTR):GTR000519377;Genetic Testing Registry (GTR):GTR000520474;Genetic Testing Registry (GTR):GTR000525319;MedGen:CN029274;OMIM:158810;Orphanet:610 -2 237361836 C T CompoundHeterozygote 202179 RCV000184025 198612 COL6A3 NM_004369.3:c.6064-5G>A NM_004369.3:c.6064-5G>A:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Bethlem myopathy 1 15689448,20301468,20301676,21078917,21943391 Autosomal dominant inheritance;Autosomal recessive inheritance Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1503;Genetic Testing Registry (GTR):GTR000501723;Genetic Testing Registry (GTR):GTR000501724;Genetic Testing Registry (GTR):GTR000501725;Genetic Testing Registry (GTR):GTR000502431;Genetic Testing Registry (GTR):GTR000502432;Genetic Testing Registry (GTR):GTR000502434;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508852;Genetic Testing Registry (GTR):GTR000512784;Genetic Testing Registry (GTR):GTR000519374;Genetic Testing Registry (GTR):GTR000519375;Genetic Testing Registry (GTR):GTR000519376;Genetic Testing Registry (GTR):GTR000519377;Genetic Testing Registry (GTR):GTR000520474;Genetic Testing Registry (GTR):GTR000525319;MedGen:CN029274;OMIM:158810;Orphanet:610 -2 240869302 T TTCCTGGTTG Haplotype 204181 RCV000186388 200465 AGXT NM_000030.2:c.299_307dupTCCTGGTTG NP_000021.1:p.Val102_Gly103insValLeuVal NM_000030.2:c.299_307dupTCCTGGTTG:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 17460142,20301460,22547750 Autosomal recessive inheritance All ages 1 per million;<1 / 1 000 000 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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 -2 240869312 G A Haplotype 204181 RCV000186388 200466 AGXT NM_000030.2:c.308G>A NP_000021.1:p.Gly103Glu NM_000030.2:c.308G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 17460142,20301460,22547750 Autosomal recessive inheritance All ages 1 per million;<1 / 1 000 000 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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 -2 240875986 G GA Haplotype 204202 RCV000186409 200559 AGXT NM_000030.2:c.829_830insA NP_000021.1:p.Ala277Aspfs NM_000030.2:c.829_830insA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 20301460,22547750 Autosomal recessive inheritance All ages 1 per million;<1 / 1 000 000 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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 -2 240875988 C A Haplotype 204202 RCV000186409 200560 AGXT NM_000030.2:c.830C>A NP_000021.1:p.Ala277Asp NM_000030.2:c.830C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 20301460,22547750 Autosomal recessive inheritance All ages 1 per million;<1 / 1 000 000 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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 -3 15635477 GCGGCTG TCC Haplotype 38562 RCV000021886 16934 BTD NM_000060.4:c.98_104delGCGGCTGinsTCC NP_000051.1:p.Cys33Phefs NM_000060.4:c.98_104delGCGGCTGinsTCC:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518,15776412,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15635512 G A Haplotype 24975;38563 RCV000021890;RCV000021889 36313 BTD NM_000060.4:c.133G>A NP_000051.1:p.Gly45Arg NM_000060.4:c.133G>A:missense variant Likely benign;Pathogenic;Uncertain significance 1 1 1 criteria provided, conflicting interpretations 1 ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15635538 C A Haplotype 24977 RCV000021892 36316 BTD NM_000060.4:c.159C>A NP_000051.1:p.His53Gln NM_000060.4:c.159C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15635539 G T Haplotype 24977 RCV000021892 36317 BTD NM_000060.4:c.160G>T NP_000051.1:p.Glu54Ter NM_000060.4:c.160G>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15635591 T C Haplotype 38562;38564 RCV000021886;RCV000021901 47043 BTD NM_000060.4:c.212T>C NP_000051.1:p.Leu71Pro NM_000060.4:c.212T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency 14707518,15776412,20301497,22378278,22475884,9396567;14707518,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15635614 C T Haplotype 38565;38566 RCV000021903;RCV000032009 16944 BTD NM_000060.4:c.235C>T NP_000051.1:p.Arg79Cys NM_000060.4:c.235C>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 ARUP Institute,ARUP Laboratories Biotinidase deficiency 10801053,15776412,16435182,20301497,22378278,22475884;10400129,10801053,15776412,16435182,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15635615 G A Haplotype 38564 RCV000021901 46851 BTD NM_000060.4:c.236G>A NP_000051.1:p.Arg79His NM_000060.4:c.236G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15635662 C T Haplotype 24994 RCV000021912 36332 BTD NM_000060.4:c.283C>T NP_000051.1:p.Gln95Ter NM_000060.4:c.283C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15644326 G A Haplotype 38566;38568 RCV000032009;RCV000021933 46845 BTD NM_000060.4:c.470G>A NP_000051.1:p.Arg157His NM_000060.4:c.470G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129,10801053,15776412,16435182,20301497,22378278,22475884,9396567;10400129,15776412,16435182,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15644367 G A Haplotype 25016 RCV000021936 36353 BTD NM_000060.4:c.511G>A NP_000051.1:p.Ala171Thr NM_000060.4:c.511G>A:missense variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129,15776412,20301497,21228398,22378278,22475884,7509806,9375914,9654207 Autosomal recessive inheritance Infancy 1-9 / 100 000 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15644497 A G Haplotype 25030 RCV000021952 36367 BTD NM_000060.4:c.641A>G NP_000051.1:p.Asn214Ser NM_000060.4:c.641A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15644650 A T Haplotype 25042 RCV000021964 36378 BTD NM_000060.4:c.794A>T NP_000051.1:p.His265Leu NM_000060.4:c.794A>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137,20083419,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15644721 G C Haplotype 38563 RCV000021889 46848 BTD NM_000060.4:c.865G>C NP_000051.1:p.Ala289Pro NM_000060.4:c.865G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15644789 T G Haplotype 25042 RCV000021964 36379 BTD NM_000060.4:c.933T>G NP_000051.1:p.Ser311Arg NM_000060.4:c.933T>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137,20083419,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15645027 C T Haplotype 38571 RCV000021985 46849 BTD NM_000060.4:c.1171C>T NP_000051.1:p.Pro391Ser NM_000060.4:c.1171C>T:missense variant Benign 0 1 0 no assertion criteria provided 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630,15776412,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15645063 T G Haplotype 1904 RCV000001981 16943 BTD NM_000060.4:c.1207T>G NP_000051.1:p.Phe403Val NM_000060.4:c.1207T>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15645127 G C Haplotype 24975 RCV000021890 36314 BTD NM_000060.4:c.1271G>C NP_000051.1:p.Cys424Ser NM_000060.4:c.1271G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15645186 G C Haplotype 1904;24994;25016;25030;38568 RCV000001981;RCV000021912;RCV000021936;RCV000021952;RCV000021933 16939 BTD NM_000060.4:c.1330G>C NP_000051.1:p.Asp444His NM_000060.4:c.1330G>C:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY 10400129,15776412,20301497,22378278,22475884;10400129,15776412,20301497,21228398,22378278,22475884,7509806,9375914,9654207;10400129,15776412,16435182,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15645190 G T Haplotype 38571 RCV000021985 36396 BTD NM_000060.4:c.1334G>T NP_000051.1:p.Gly445Val NM_000060.4:c.1334G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630,15776412,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 15645217 A C Haplotype 38565 RCV000021903 36326 BTD NM_000060.4:c.1361A>C NP_000051.1:p.Tyr454Ser NM_000060.4:c.1361A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10801053,15776412,16435182,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 -3 33018510 G A CompoundHeterozygote 208495 RCV000190508 205010 GLB1 NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser NM_000404.3:c.1285C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 Childhood <1 / 1 000 000 germline Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 -3 33024297 G T CompoundHeterozygote 208495 RCV000190508 205011 GLB1 NM_000404.3:c.1097C>A NP_000395.2:p.Pro366His NM_000404.3:c.1097C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 Childhood <1 / 1 000 000 germline Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 -3 33068849 C T CompoundHeterozygote 216935 RCV000196532 15967 GLB1 NM_000404.3:c.367G>A NP_000395.2:p.Gly123Arg NM_000404.3:c.367G>A:missense variant;NM_001135602.1:c.246-3292G>A:intron variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA Infantile GM1 gangliosidosis;Infantile GM1 gangliosidosis 25326637 1-9 / 1 000 000 germline Genetic Alliance:Infantile+GM1+gangliosidosis/8659;MedGen:C0268271;OMIM:230500;OMIM:611458.0001;OMIM:611458.0002;OMIM:611458.0005;OMIM:611458.0006;OMIM:611458.0007;OMIM:611458.0010;OMIM:611458.0012;OMIM:611458.0014;OMIM:611458.0017;OMIM:611458.0023;Orphanet:354;SNOMED CT:238026007 -3 33068940 C T CompoundHeterozygote 242904 RCV000234894 244010 GLB1 NM_000404.3:c.276G>A NP_000395.2:p.Trp92Ter NM_000404.3:c.276G>A:nonsense;NM_001135602.2:c.246-3383G>A:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Infantile GM1 gangliosidosis 1-9 / 1 000 000 germline Genetic Alliance:Infantile+GM1+gangliosidosis/8659;Human Phenotype Ontology:HP:0001433;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0010729;MedGen:C0268271;OMIM:230500;OMIM:611458.0001;OMIM:611458.0002;OMIM:611458.0005;OMIM:611458.0006;OMIM:611458.0007;OMIM:611458.0010;OMIM:611458.0012;OMIM:611458.0014;OMIM:611458.0017;OMIM:611458.0023;Orphanet:354;SNOMED CT:238026007 -3 33072544 G A CompoundHeterozygote 216935 RCV000196532 15974 GLB1 NM_000404.3:c.245C>T NP_000395.2:p.Thr82Met NM_000404.3:c.245C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA Infantile GM1 gangliosidosis;Infantile GM1 gangliosidosis 25326637 1-9 / 1 000 000 germline Genetic Alliance:Infantile+GM1+gangliosidosis/8659;MedGen:C0268271;OMIM:230500;OMIM:611458.0001;OMIM:611458.0002;OMIM:611458.0005;OMIM:611458.0006;OMIM:611458.0007;OMIM:611458.0010;OMIM:611458.0012;OMIM:611458.0014;OMIM:611458.0017;OMIM:611458.0023;Orphanet:354;SNOMED CT:238026007 -3 33097006 C G CompoundHeterozygote 242904 RCV000234894 244009 GLB1 NM_000404.3:c.75+5G>C NM_000404.3:c.75+5G>C:intron variant;NM_001079811.2:c.-303G>C:2KB upstream variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Infantile GM1 gangliosidosis 1-9 / 1 000 000 germline Genetic Alliance:Infantile+GM1+gangliosidosis/8659;Human Phenotype Ontology:HP:0001433;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0010729;MedGen:C0268271;OMIM:230500;OMIM:611458.0001;OMIM:611458.0002;OMIM:611458.0005;OMIM:611458.0006;OMIM:611458.0007;OMIM:611458.0010;OMIM:611458.0012;OMIM:611458.0014;OMIM:611458.0017;OMIM:611458.0023;Orphanet:354;SNOMED CT:238026007 -3 38551513 G A Haplotype 9371 RCV000009965 38446 SCN5A NM_198056.2:c.4859C>T NP_932173.1:p.Thr1620Met NM_000335.4:c.4856C>T:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided 0 OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304,19251209,20129283,20301690,21321465,21810866,23788249,25356965,27854360,9521325 Autosomal dominant inheritance Adult 1-5 / 10 000 germline GeneReviews:NBK1517;Genetic Testing Registry (GTR):GTR000316547;Genetic Testing Registry (GTR):GTR000329728;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000502993;Genetic Testing Registry (GTR):GTR000508959;Genetic Testing Registry (GTR):GTR000508974;Genetic Testing Registry (GTR):GTR000511301;Genetic Testing Registry (GTR):GTR000512866;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000525923;Genetic Testing Registry (GTR):GTR000528443;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;MedGen:CN029323;OMIM:601144;Orphanet:130 -3 38562456 G A Haplotype 9407 RCV000010010 38448 SCN5A NM_198056.2:c.3922C>T NP_932173.1:p.Leu1308Phe NM_000335.4:c.3919C>T:missense variant Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948,15851227,18599870,19841300,20129283,20301690,21810866,23788249,25356965,27854360 Autosomal dominant inheritance Adult 1-5 / 10 000 germline GeneReviews:NBK1517;Genetic Testing Registry (GTR):GTR000316547;Genetic Testing Registry (GTR):GTR000329728;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000502993;Genetic Testing Registry (GTR):GTR000508959;Genetic Testing Registry (GTR):GTR000508974;Genetic Testing Registry (GTR):GTR000511301;Genetic Testing Registry (GTR):GTR000512866;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000525923;Genetic Testing Registry (GTR):GTR000528443;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;MedGen:CN029323;OMIM:601144;Orphanet:130 -3 38566555 G A Haplotype 9371 RCV000009965 24410 SCN5A NM_198056.2:c.3694C>T NP_932173.1:p.Arg1232Trp NM_000335.4:c.3691C>T:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations 1 OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304,19251209,20129283,20301690,21321465,21810866,23788249,25356965,27854360,9521325 Autosomal dominant inheritance Adult 1-5 / 10 000 germline GeneReviews:NBK1517;Genetic Testing Registry (GTR):GTR000316547;Genetic Testing Registry (GTR):GTR000329728;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000502993;Genetic Testing Registry (GTR):GTR000508959;Genetic Testing Registry (GTR):GTR000508974;Genetic Testing Registry (GTR):GTR000511301;Genetic Testing Registry (GTR):GTR000512866;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000525923;Genetic Testing Registry (GTR):GTR000528443;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;MedGen:CN029323;OMIM:601144;Orphanet:130 -3 38603929 T C Haplotype 9398 RCV000010000 38447 SCN5A NM_198056.2:c.1673A>G NP_932173.1:p.His558Arg NM_000335.4:c.1673A>G:missense variant Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545,11463728,11997281,12569159,12639704,14760,18378609,23788249,23994779 Autosomal dominant inheritance Adult germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519405;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000528443;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 -3 38604067 G A Haplotype 9398 RCV000010000 24437 SCN5A NM_198056.2:c.1535C>T NP_932173.1:p.Thr512Ile NM_198056.2:c.1535C>T:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations 1 OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545,11463728,11997281,12569159,12639704,14760,18378609,23788249,23994779 Autosomal dominant inheritance Adult germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519405;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000528443;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 -3 38613752 C T Haplotype 9407 RCV000010010 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 Likely benign;Uncertain significance;not provided 0 1 0 criteria provided, conflicting interpretations 1 OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948,15851227,18599870,19841300,20129283,20301690,21810866,23788249,25356965,27854360 Autosomal dominant inheritance Adult 1-5 / 10 000 germline GeneReviews:NBK1517;Genetic Testing Registry (GTR):GTR000316547;Genetic Testing Registry (GTR):GTR000329728;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000502993;Genetic Testing Registry (GTR):GTR000508959;Genetic Testing Registry (GTR):GTR000508974;Genetic Testing Registry (GTR):GTR000511301;Genetic Testing Registry (GTR):GTR000512866;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000525923;Genetic Testing Registry (GTR):GTR000528443;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;MedGen:CN029323;OMIM:601144;Orphanet:130 -3 38728652 G A CompoundHeterozygote 208970 RCV000201430 205435 SCN10A NM_006514.3:c.2530C>T NP_006505.3:p.Arg844Cys NM_006514.3:c.2530C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -3 38771281 C A CompoundHeterozygote 208970 RCV000201430 205436 SCN10A NM_006514.3:c.597G>T NP_006505.3:p.Leu199= NM_006514.3:c.597G>T:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -3 39265671 G A Haplotype 8152 RCV000008629;RCV000008630;RCV000022393;RCV000023109 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM;NCBI curation Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS;Coronary artery disease, resistance to;Age-related macular degeneration 12;MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151,11264153,12697743,15208270,17909628,23716478;15208270,17909628 germline MedGen:C4016733;MedGen:C1832288;Genetic Alliance:Age-related+macular+degeneration+12/7651;Genetics Home Reference:age-related-macular-degeneration;MedGen:C3151079;OMIM:613784;OMIM:601470.0001 -3 39265765 C T Haplotype 8152 RCV000008629;RCV000008630;RCV000022393;RCV000023109 23191 CX3CR1 NM_001171174.1:c.841G>A NP_001164645.1:p.Val281Ile NM_001171174.1:c.841G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM;NCBI curation Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS;Coronary artery disease, resistance to;Age-related macular degeneration 12;MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151,11264153,12697743,15208270,17909628,23716478;15208270,17909628 germline MedGen:C4016733;MedGen:C1832288;Genetic Alliance:Age-related+macular+degeneration+12/7651;Genetics Home Reference:age-related-macular-degeneration;MedGen:C3151079;OMIM:613784;OMIM:601470.0001 -3 42691976 T C Haplotype 228777 RCV000213109 229063 KLHL40 NM_152393.3:c.1849T>C NP_689606.2:p.Cys617Arg NM_152393.3:c.1849T>C:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -3 42691977 G A Haplotype 228777 RCV000213109 229064 KLHL40 NM_152393.3:c.1850G>A NP_689606.2:p.Cys617Tyr NM_152393.3:c.1850G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -3 45476508 C T CompoundHeterozygote 203992 RCV000203256 200390 LARS2 NM_015340.3:c.899C>T NP_056155.1:p.Thr300Met NM_015340.3:c.899C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 Molecular Genetics and RNA Biology, Humanitas University Perrault syndrome 4;Perrault syndrome 4 26657938 Adolescent <1 / 1 000 000 germline MedGen:C3809105;OMIM:615300;Orphanet:2855 -3 45516144 G A CompoundHeterozygote 203992 RCV000203256 200391 LARS2 NM_015340.3:c.1912G>A NP_056155.1:p.Glu638Lys NM_015340.3:c.1912G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 Molecular Genetics and RNA Biology, Humanitas University Perrault syndrome 4;Perrault syndrome 4 26657938 Adolescent <1 / 1 000 000 germline MedGen:C3809105;OMIM:615300;Orphanet:2855 -3 49123179 G A Haplotype 14535 RCV000015634 38466 LAMB2 NM_002292.3:c.4177C>T NP_002283.3:p.Leu1393Phe NM_002292.3:c.4177C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 Infancy <1 / 1 000 000 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 -3 49123216 G T Haplotype 14535 RCV000015634 29574 LAMB2 NM_002292.3:c.4140C>A NP_002283.3:p.Asn1380Lys NM_002292.3:c.4140C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 Infancy <1 / 1 000 000 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 -3 49721835 C T CompoundHeterozygote 266115 RCV000256412 75121 GMPPB NM_013334.3:c.1081G>A NP_037466.2:p.Asp361Asn NM_013334.3:c.1081G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Congenital muscular dystrophy;Global developmental delay;Microcephaly;Seizures;Smooth philtrum germline HP:HP:0000252;HP:HP:0000319;HP:HP:0001250;HP:HP:0001263;HP:HP:0003741;MedGen:C3809221;OMIM:615351 -3 49721964 C T CompoundHeterozygote 266115 RCV000256412 260935 GMPPB NM_013334.3:c.952G>A NP_037466.2:p.Val318Ile NM_013334.3:c.952G>A:missense variant;NM_021971.2:c.951+1G>A:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Congenital muscular dystrophy;Global developmental delay;Microcephaly;Seizures;Smooth philtrum germline HP:HP:0000252;HP:HP:0000319;HP:HP:0001250;HP:HP:0001263;HP:HP:0003741;MedGen:C3809221;OMIM:615351 -3 64157305 C T Haplotype 30731 RCV000023709 39689 PRICKLE2 NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile NM_198859.3:c.457G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947,26942291,26942292,632821 Adolescent <1 / 1 000 000 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:C3151194;OMIM:613832;Orphanet:402082 -3 64157319 C T Haplotype 30731 RCV000023709 39688 PRICKLE2 NM_198859.3:c.443G>A NP_942559.1:p.Arg148His NM_198859.3:c.443G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947,26942291,26942292,632821 Adolescent <1 / 1 000 000 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:C3151194;OMIM:613832;Orphanet:402082 -3 114339010 C T Haplotype 253111 RCV000239523 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 -3 114339384 G A Haplotype 253111 RCV000239523 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 -3 124735222 A G Haplotype 11906 RCV000012681 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 Infancy <1 / 1 000 000 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 -3 124743926 G C Haplotype 11906 RCV000012681 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 Infancy <1 / 1 000 000 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 -3 128879692 A G CompoundHeterozygote 217744 RCV000201531 214380 ACAD9 NM_014049.4:c.1A>G NP_054768.2:p.Met1Val NM_014049.4:c.1A>G:missense variant;NR_033426.1:n.203A>G:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128879693 T G CompoundHeterozygote 217738 RCV000201549 214381 ACAD9 NM_014049.4:c.2T>G NP_054768.2:p.Met1Arg NM_014049.4:c.2T>G:missense variant;NR_033426.1:n.204T>G:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128884651 A G CompoundHeterozygote 217741 RCV000201557 214382 ACAD9 NM_014049.4:c.151-2A>G NM_014049.4:c.151-2A>G:splice acceptor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128895320 CT C CompoundHeterozygote 216883;217739 RCV000199949;RCV000201606 213547 ACAD9 NM_014049.4:c.359delT NP_054768.2:p.Phe120Serfs NM_014049.4:c.359delT:frameshift variant;NR_033426.1:n.737delT:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA;Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy 25326637 Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128899449 C T CompoundHeterozygote 217744 RCV000201531 214383 ACAD9 NM_014049.4:c.796C>T NP_054768.2:p.Arg266Trp NM_014049.4:c.796C>T:missense variant;NR_033426.1:n.1174C>T:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128904079 G A CompoundHeterozygote 217740 RCV000201693 139956 ACAD9 NM_014049.4:c.976G>A NP_054768.2:p.Ala326Thr NM_014049.4:c.976G>A:missense variant;NR_033426.1:n.1354G>A:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128904118 T G CompoundHeterozygote 217738 RCV000201549 214384 ACAD9 NM_014049.4:c.1015T>G NP_054768.2:p.Phe339Val NM_014049.4:c.1015T>G:missense variant;NR_033426.1:n.1393T>G:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128904385 G T CompoundHeterozygote 217737 RCV000201722 214385 ACAD9 NM_014049.4:c.1030-1G>T NM_014049.4:c.1030-1G>T:splice acceptor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128906208 G A CompoundHeterozygote 217742 RCV000201643 214386 ACAD9 NM_014049.4:c.1237G>A NP_054768.2:p.Glu413Lys NM_014049.4:c.1237G>A:missense variant;NR_033426.1:n.1615G>A:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128906220 C T CompoundHeterozygote 217737 RCV000201722 39837 ACAD9 NM_014049.4:c.1249C>T NP_054768.2:p.Arg417Cys NM_014049.4:c.1249C>T:missense variant;NR_033426.1:n.1627C>T:non-coding transcript variant Pathogenic 1 0 0 no assertion criteria provided 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128908204 G A CompoundHeterozygote 217741 RCV000201557 214387 ACAD9 NM_014049.4:c.1298G>A NP_054768.2:p.Arg433Gln NM_014049.4:c.1298G>A:missense variant;NR_033426.1:n.1676G>A:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128909410 C T CompoundHeterozygote 217742;217743 RCV000201643;RCV000201736 214388 ACAD9 NM_014049.4:c.1552C>T NP_054768.2:p.Arg518Cys NM_014049.4:c.1552C>T:missense variant;NR_033426.1:n.1930C>T:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128910014 ATCCCAGACCATC A CompoundHeterozygote 217743 RCV000201736 214389 ACAD9 NM_014049.4:c.1564-6_1569del not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128910051 C T CompoundHeterozygote 217739 RCV000201606 39841 ACAD9 NM_014049.4:c.1594C>T NP_054768.2:p.Arg532Trp NM_014049.4:c.1594C>T:missense variant;NR_033426.1:n.1972C>T:non-coding transcript variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter 1 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128910052 G A CompoundHeterozygote 217740 RCV000201693 214390 ACAD9 NM_014049.4:c.1595G>A NP_054768.2:p.Arg532Gln NM_014049.4:c.1595G>A:missense variant;NR_033426.1:n.1973G>A:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale Acyl-CoA dehydrogenase family, member 9, deficiency of;Cardiac hypertrophy;Hyperlactatemia;cardiac hypertrophy Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 128912587 C T CompoundHeterozygote 216883 RCV000199949 213548 KIAA1257 NM_014049.4:c.1846C>T NP_054768.2:p.Pro616Ser NM_014049.4:c.1846C>T:missense variant;NR_033426.1:n.2224C>T:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Acyl-CoA dehydrogenase family, member 9, deficiency of;Acyl-CoA dehydrogenase family, member 9, deficiency of 25326637 Infancy germline Genetic Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631;MedGen:C1970173;OMIM:611103.0001;OMIM:611103.0002;OMIM:611103.0003;OMIM:611103.0004;OMIM:611103.0005;OMIM:611103.0006;OMIM:611103.0007;OMIM:611103.0008;OMIM:611126;Orphanet:99901 -3 193637313 T C Haplotype 5089 RCV000005394 101627 OPA1 NM_015560.2:c.870+32T>C NM_015560.2:c.870+32T>C:intron variant Benign 0 1 0 criteria provided, single submitter 1 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 -4 1002767 G C Haplotype 11911 RCV000012686 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 Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 OMIM Hurler syndrome;HURLER SYNDROME 20301341,8328452 Autosomal recessive inheritance germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0086795;OMIM:607014 -4 1004393 A T Haplotype 11911 RCV000012686 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Hurler syndrome;HURLER SYNDROME 20301341,8328452 Autosomal recessive inheritance germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0086795;OMIM:607014 -4 1804384 T G Haplotype 16353 RCV000017763 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Achondroplasia;ACHONDROPLASIA 16411219,20301331,2783977 Autosomal dominant inheritance Neonatal 1-9 / 100 000;1.3 per 100,000 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):GTR000319775;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):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;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 -4 1804392 G A Haplotype 16353 RCV000017763 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 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Achondroplasia;ACHONDROPLASIA 16411219,20301331,2783977 Autosomal dominant inheritance Neonatal 1-9 / 100 000;1.3 per 100,000 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):GTR000319775;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):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;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 -4 1805396 A G Haplotype 16360 RCV000017771 38478 FGFR3 NM_001163213.1:c.1460A>G NP_001156685.1:p.Gln487Arg NM_000142.4:c.1454A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430,20301540 Autosomal dominant inheritance Antenatal 1-9 / 100 000 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):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;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 -4 1805644 C A Haplotype 16360 RCV000017771 31376 FGFR3 NM_001163213.1:c.1626C>A NP_001156685.1:p.Asn542Lys NM_000142.4:c.1620C>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430,20301540 Autosomal dominant inheritance Antenatal 1-9 / 100 000 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):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;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 -4 3493242 G GC CompoundHeterozygote 216920 RCV000200829 16313 DOK7 NM_173660.4:c.1263dupC NP_775931.3:p.Ser422Leufs NM_001164673.1:c.*484dupC:3 prime UTR variant;NM_173660.4:c.1263dupC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA Myasthenia, limb-girdle, familial;Myasthenia, limb-girdle, familial 20301347,25326637 Infancy 1-9 / 1 000 000 unknown GeneReviews:NBK1168;Genetic Alliance:Myasthenia%2C+familial+limb-girdle/4999;MedGen:C1850792;OMIM:254300;OMIM:610285.0001;OMIM:610285.0002;OMIM:610285.0003;OMIM:610285.0004;OMIM:610285.0005;OMIM:610285.0006;OMIM:610285.0007;OMIM:610285.0008;OMIM:610285.0009;OMIM:610285.0010;Orphanet:590 -4 3493242 GC G CompoundHeterozygote 216920 RCV000200829 213555 DOK7 NM_173660.4:c.1263delC NP_775931.3:p.Ser422Hisfs NM_001164673.1:c.*484delC:3 prime UTR variant;NM_173660.4:c.1263delC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Myasthenia, limb-girdle, familial;Myasthenia, limb-girdle, familial 20301347,25326637 Infancy 1-9 / 1 000 000 unknown GeneReviews:NBK1168;Genetic Alliance:Myasthenia%2C+familial+limb-girdle/4999;MedGen:C1850792;OMIM:254300;OMIM:610285.0001;OMIM:610285.0002;OMIM:610285.0003;OMIM:610285.0004;OMIM:610285.0005;OMIM:610285.0006;OMIM:610285.0007;OMIM:610285.0008;OMIM:610285.0009;OMIM:610285.0010;Orphanet:590 -4 15587842 TGAA T CompoundHeterozygote 202201 RCV000184047 198620 CC2D2A NM_001080522.2:c.4093_4095delGAA NP_001073991.2:p.Glu1367del NM_001080522.2:c.4093_4095delGAA:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Joubert syndrome 9;Joubert syndrome 9 20301500 Autosomal recessive inheritance Infancy <1 / 1 000 000 germline Genetic Alliance:Joubert+syndrome+9/8695;Genetic Testing Registry (GTR):GTR000500621;Genetic Testing Registry (GTR):GTR000509766;Genetic Testing Registry (GTR):GTR000512672;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000552165;Genetic Testing Registry (GTR):GTR000552175;Genetics Home Reference:joubert-syndrome;MedGen:C2676788;OMIM:612285;Orphanet:2318 -4 15599626 CCT C CompoundHeterozygote 202201 RCV000184047 198621 CC2D2A NM_001080522.2:c.4595_4596delCT NP_001073991.2:p.Leu1533Valfs NM_001080522.2:c.4595_4596delCT:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Joubert syndrome 9;Joubert syndrome 9 20301500 Autosomal recessive inheritance Infancy <1 / 1 000 000 germline Genetic Alliance:Joubert+syndrome+9/8695;Genetic Testing Registry (GTR):GTR000500621;Genetic Testing Registry (GTR):GTR000509766;Genetic Testing Registry (GTR):GTR000512672;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000552165;Genetic Testing Registry (GTR):GTR000552175;Genetics Home Reference:joubert-syndrome;MedGen:C2676788;OMIM:612285;Orphanet:2318 -4 47937535 G A CompoundHeterozygote 216906 RCV000199453 31971 CNGA1 NM_000087.3:c.959C>T NP_001136036.1:p.Ser389Phe NM_001142564.1:c.1166C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA Retinitis pigmentosa 49;Retinitis pigmentosa 49 25326637 Adolescent 1-5 / 10 000 germline Genetic Alliance:Retinitis+pigmentosa+49/9236;MedGen:C3151059;OMIM:613756;Orphanet:791 -4 47940775 G A CompoundHeterozygote 216906 RCV000199453 213556 CNGA1 NM_001142564.1:c.859C>T NP_001136036.1:p.Arg287Ter NM_001142564.1:c.859C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Retinitis pigmentosa 49;Retinitis pigmentosa 49 25326637 Adolescent 1-5 / 10 000 germline Genetic Alliance:Retinitis+pigmentosa+49/9236;MedGen:C3151059;OMIM:613756;Orphanet:791 -4 67740661 G A CompoundHeterozygote 219104 RCV000203470 150302 GNRHR NM_000406.2:c.806C>T NP_000397.1:p.Thr269Met NM_000406.2:c.806C>T:missense variant;NM_001012763.1:c.678C>T:synonymous variant Pathogenic 1 0 0 no assertion criteria provided 0 Research Centre for Medical Genetics Hypogonadotropic hypogonadism 7 with or without anosmia 20301509 Infancy inherited Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital:GnSn_Ex3;GeneReviews:NBK1334;Genetic Alliance:Hypogonadism%2C+isolated%2C+hypogonadotropic/3650;Genetic Testing Registry (GTR):GTR000278766;MedGen:C0271623;OMIM:138850.0001;OMIM:138850.0002;OMIM:138850.0003;OMIM:138850.0004;OMIM:138850.0005;OMIM:138850.0006;OMIM:138850.0007;OMIM:138850.0008;OMIM:138850.0009;OMIM:138850.0010;OMIM:138850.0011;OMIM:138850.0012;OMIM:138850.0013;OMIM:138850.0014;OMIM:146110;Orphanet:432;SNOMED CT:33927004 -4 67753920 C T CompoundHeterozygote 219104 RCV000203470 31069 GNRHR NM_000406.2:c.416G>A NP_000397.1:p.Arg139His NM_000406.2:c.416G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 Research Centre for Medical Genetics Hypogonadotropic hypogonadism 7 with or without anosmia 20301509 Infancy inherited Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital:GnSn_Ex3;GeneReviews:NBK1334;Genetic Alliance:Hypogonadism%2C+isolated%2C+hypogonadotropic/3650;Genetic Testing Registry (GTR):GTR000278766;MedGen:C0271623;OMIM:138850.0001;OMIM:138850.0002;OMIM:138850.0003;OMIM:138850.0004;OMIM:138850.0005;OMIM:138850.0006;OMIM:138850.0007;OMIM:138850.0008;OMIM:138850.0009;OMIM:138850.0010;OMIM:138850.0011;OMIM:138850.0012;OMIM:138850.0013;OMIM:138850.0014;OMIM:146110;Orphanet:432;SNOMED CT:33927004 -4 70033186 G A Haplotype 14913 RCV000016048 38467 HTN3 NM_000200.2:c.122G>A NP_000191.1:p.Arg41Gln NM_000200.2:c.122G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 -4 70033205 T A Haplotype 14913 RCV000016048 29952 HTN3 NM_000200.2:c.141T>A NP_000191.1:p.Tyr47Ter NM_000200.2:c.141T>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 -4 102267901 A T CompoundHeterozygote 218916 RCV000203261 215656 SLC39A8 NM_022154.5:c.1019T>A NP_071437.3:p.Ile340Asn NM_022154.5:c.1019T>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Metabolic Research Unit,Children's University Hospital Muenster SLC39A8 deficiency;SLC39A8 deficiency 26637979 germline MedGen:CN234734 -4 102267916 C G CompoundHeterozygote;Haplotype 218917;218898 RCV000203267;RCV000203237 215658 SLC39A8 NM_022154.5:c.1004G>C NP_071437.3:p.Ser335Thr NM_022154.5:c.1004G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Metabolic Research Unit,Children's University Hospital Muenster;OMIM SLC39A8 deficiency;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 26637979 germline MedGen:CN234734;MedGen:CN234667;OMIM:608732.0001;OMIM:608732.0002;OMIM:608732.0003;OMIM:608732.0004;OMIM:616721 -4 102305054 C A CompoundHeterozygote 218917 RCV000203267 215657 SLC39A8 NM_022154.5:c.610G>T NP_071437.3:p.Gly204Cys NM_022154.5:c.610G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Metabolic Research Unit,Children's University Hospital Muenster SLC39A8 deficiency;SLC39A8 deficiency 26637979 germline MedGen:CN234734 -4 102344551 C G CompoundHeterozygote 218916 RCV000203261 215655 SLC39A8 NM_022154.5:c.112G>C NP_071437.3:p.Gly38Arg NM_022154.5:c.112G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Metabolic Research Unit,Children's University Hospital Muenster SLC39A8 deficiency;SLC39A8 deficiency 26637979 germline MedGen:CN234734 -4 102344566 C T CompoundHeterozygote;Haplotype 218917;218898 RCV000203267;RCV000203237 215659 SLC39A8 NM_022154.5:c.97G>A NP_071437.3:p.Val33Met NM_022154.5:c.97G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Metabolic Research Unit,Children's University Hospital Muenster;OMIM SLC39A8 deficiency;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 26637979 germline MedGen:CN234734;MedGen:CN234667;OMIM:608732.0001;OMIM:608732.0002;OMIM:608732.0003;OMIM:608732.0004;OMIM:616721 -4 108167587 A G Haplotype 14382 RCV000015459 38464 LEF1-AS1 NM_016269.4:c.181T>C NP_057353.1:p.Ser61Pro NM_001166119.1:c.-1307T>C:2KB upstream variant;NM_016269.4:c.181T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Sebaceous tumors, somatic;SEBACEOUS TUMORS, SOMATIC 16565724 somatic MedGen:C1835244 -4 108167635 C T Haplotype 14382 RCV000015459 29421 LEF1-AS1 NM_016269.4:c.133G>A NP_057353.1:p.Glu45Lys NM_001166119.1:c.-1355G>A:2KB upstream variant;NM_016269.4:c.133G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Sebaceous tumors, somatic;SEBACEOUS TUMORS, SOMATIC 16565724 somatic MedGen:C1835244 -4 158706270 C T CompoundHeterozygote 216925 RCV000198866 100972 ETFDH NM_004453.3:c.1367C>T NP_004444.2:p.Pro456Leu NM_004453.3:c.1367C>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Glutaric aciduria, type 2;Glutaric aciduria, type 2 25326637 Autosomal recessive inheritance All ages 1-9 / 1 000 000 germline Genetic Alliance:Glutaric+Acidemia+II/3111;Genetic Testing Registry (GTR):GTR000501219;Genetic Testing Registry (GTR):GTR000502508;Genetic Testing Registry (GTR):GTR000502511;Genetic Testing Registry (GTR):GTR000506340;Genetic Testing Registry (GTR):GTR000506342;Genetic Testing Registry (GTR):GTR000506345;Genetic Testing Registry (GTR):GTR000506573;Genetic Testing Registry (GTR):GTR000512505;Genetic Testing Registry (GTR):GTR000512506;Genetic Testing Registry (GTR):GTR000514645;Genetic Testing Registry (GTR):GTR000521370;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528277;MedGen:C0268596;OMIM:231680;Office of Rare Diseases:6523;Orphanet:26791;SNOMED CT:22886006 -4 158706647 T C CompoundHeterozygote 216925 RCV000198866 213553 ETFDH NM_004453.3:c.1487T>C NP_004444.2:p.Leu496Pro NM_004453.3:c.1487T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Glutaric aciduria, type 2;Glutaric aciduria, type 2 25326637 Autosomal recessive inheritance All ages 1-9 / 1 000 000 germline Genetic Alliance:Glutaric+Acidemia+II/3111;Genetic Testing Registry (GTR):GTR000501219;Genetic Testing Registry (GTR):GTR000502508;Genetic Testing Registry (GTR):GTR000502511;Genetic Testing Registry (GTR):GTR000506340;Genetic Testing Registry (GTR):GTR000506342;Genetic Testing Registry (GTR):GTR000506345;Genetic Testing Registry (GTR):GTR000506573;Genetic Testing Registry (GTR):GTR000512505;Genetic Testing Registry (GTR):GTR000512506;Genetic Testing Registry (GTR):GTR000514645;Genetic Testing Registry (GTR):GTR000521370;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528277;MedGen:C0268596;OMIM:231680;Office of Rare Diseases:6523;Orphanet:26791;SNOMED CT:22886006 -5 225434 G C Haplotype 190221 RCV000170440 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Mitochondrial complex II deficiency;Mitochondrial complex II deficiency 10746566,22972948 <1 / 1 000 000 germline Genetic Alliance:Mitochondrial+complex+II+deficiency/4824;MedGen:C1855008;OMIM:252011;Office of Rare Diseases:5053;Orphanet:3208 -5 240474 A G Haplotype 190221 RCV000170440 188049 SDHA NM_004168.3:c.1549A>G NP_004159.2:p.Lys517Glu NM_004168.3:c.1549A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Mendelics Analise Genomica Mitochondrial complex II deficiency;Mitochondrial complex II deficiency 10746566,22972948 <1 / 1 000 000 germline Genetic Alliance:Mitochondrial+complex+II+deficiency/4824;MedGen:C1855008;OMIM:252011;Office of Rare Diseases:5053;Orphanet:3208 -5 1266519 C T Haplotype 36946 RCV000030627 45604 TERT NM_198253.2:c.2599G>A NP_937983.2:p.Val867Met NM_198253.2:c.2599G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 Adult 1-9 / 1 000 000 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 -5 1272196 C T Haplotype 36946 RCV000030627 45603 TERT NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile NM_198253.2:c.2371G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 Adult 1-9 / 1 000 000 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 -5 33944787 A G CompoundHeterozygote 217000 RCV000199265 213559 SLC45A2 NM_016180.4:c.1454T>C NP_057264.3:p.Leu485Pro NM_016180.4:c.1454T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Oculocutaneous albinism type 4;Oculocutaneous albinism type 4 20301683,25326637 Infancy 1-9 / 100 000 germline GeneReviews:NBK1510;Genetic Alliance:Oculocutaneous+albinism%2C+type+4/9033;MedGen:C1847836;OMIM:606574;Orphanet:79435 -5 33984319 CG C CompoundHeterozygote 217000 RCV000199265 213560 SLC45A2 NM_016180.4:c.264delC NP_057264.3:p.Gly89Aspfs NM_016180.4:c.264delC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Oculocutaneous albinism type 4;Oculocutaneous albinism type 4 20301683,25326637 Infancy 1-9 / 100 000 germline GeneReviews:NBK1510;Genetic Alliance:Oculocutaneous+albinism%2C+type+4/9033;MedGen:C1847836;OMIM:606574;Orphanet:79435 -5 37169056 T G CompoundHeterozygote 375266 RCV000416362 361968 C5orf42 NM_023073.3:c.6968A>C NP_075561.3:p.Gln2323Pro NM_023073.3:c.6968A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Orofaciodigital syndrome 6;Joubert syndrome 17 20301500,21448235,25741868 Autosomal recessive inheritance Antenatal;Infancy 1-9 / 100 000;<1 / 1 000 000 inherited GeneReviews:NBK1325;Genetic Alliance:Joubert+syndrome+17/8692;Genetic Alliance:Orofaciodigital+syndrome+6/5425;Genetic Testing Registry (GTR):GTR000500621;Genetic Testing Registry (GTR):GTR000512676;Genetic Testing Registry (GTR):GTR000552165;Genetic Testing Registry (GTR):GTR000552175;MedGen:C2745997;MedGen:C3553264;OMIM:277170;OMIM:614615;Office of Rare Diseases:5458;Orphanet:2754;Orphanet:475 -5 37226515 T C CompoundHeterozygote 375266 RCV000416362 361969 C5orf42 NM_023073.3:c.2080A>G NP_075561.3:p.Met694Val NM_023073.3:c.2080A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Orofaciodigital syndrome 6;Joubert syndrome 17 20301500,21448235,25741868 Autosomal recessive inheritance Antenatal;Infancy 1-9 / 100 000;<1 / 1 000 000 inherited GeneReviews:NBK1325;Genetic Alliance:Joubert+syndrome+17/8692;Genetic Alliance:Orofaciodigital+syndrome+6/5425;Genetic Testing Registry (GTR):GTR000500621;Genetic Testing Registry (GTR):GTR000512676;Genetic Testing Registry (GTR):GTR000552165;Genetic Testing Registry (GTR):GTR000552175;MedGen:C2745997;MedGen:C3553264;OMIM:277170;OMIM:614615;Office of Rare Diseases:5458;Orphanet:2754;Orphanet:475 -5 41853435 A T Haplotype 8165 RCV000008643 38389 OXCT1 NM_000436.3:c.398T>A NP_000427.1:p.Val133Glu NM_000436.3:c.398T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 Infancy <1 / 1 000 000 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 -5 41862656 G A Haplotype 8165 RCV000008643 23204 OXCT1 NM_000436.3:c.173C>T NP_000427.1:p.Thr58Met NM_000436.3:c.173C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 Infancy <1 / 1 000 000 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 -5 112707523 A C Haplotype 243004 RCV000234986 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466,15604628,20301519,21368914,21813476,23788249,24310308,25356965,25452455,25645574,27087319,27854360 Autosomal dominant inheritance 2.29 to 3.2 per 100,000 individuals loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000017525;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000323395;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500012;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 -5 112707592 GA G Haplotype 243004 RCV000234986 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466,15604628,20301519,21368914,21813476,23788249,24310308,25356965,25452455,25645574,27087319,27854360 Autosomal dominant inheritance 2.29 to 3.2 per 100,000 individuals loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000017525;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000323395;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500012;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 -5 119456320 G T CompoundHeterozygote 202199 RCV000184045 198623 HSD17B4 NM_000414.3:c.64G>T NP_000405.1:p.Gly22Cys NM_000414.3:c.64G>T:missense variant;NM_001199292.1:c.58+3687G>T:intron variant;NM_001292027.1:c.-74G>T:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Bifunctional peroxisomal enzyme deficiency;Bifunctional peroxisomal enzyme deficiency 16385454 Autosomal recessive inheritance 1/200,000 loss of function germline Genetic Alliance:D-Bifunctional+Protein+Deficiency/2093;Genetic Testing Registry (GTR):GTR000028499;Genetic Testing Registry (GTR):GTR000070507;Genetic Testing Registry (GTR):GTR000500811;Genetic Testing Registry (GTR):GTR000515759;Genetic Testing Registry (GTR):GTR000515764;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0342870;OMIM:261515;SNOMED CT:238068007 -5 119493897 G T CompoundHeterozygote 202199 RCV000184045 198624 HSD17B4 NM_000414.3:c.819G>T NP_000405.1:p.Trp273Cys NM_000414.3:c.819G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Bifunctional peroxisomal enzyme deficiency;Bifunctional peroxisomal enzyme deficiency 16385454 Autosomal recessive inheritance 1/200,000 loss of function germline Genetic Alliance:D-Bifunctional+Protein+Deficiency/2093;Genetic Testing Registry (GTR):GTR000028499;Genetic Testing Registry (GTR):GTR000070507;Genetic Testing Registry (GTR):GTR000500811;Genetic Testing Registry (GTR):GTR000515759;Genetic Testing Registry (GTR):GTR000515764;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0342870;OMIM:261515;SNOMED CT:238068007 -5 136056754 C A Haplotype 7874 RCV000008323 22913 TGFBI NM_000358.2:c.1637C>A NP_000349.1:p.Ala546Asp NM_000358.2:c.1637C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592,15531312 All ages 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 -5 136056769 C A Haplotype 7874 RCV000008323 38388 TGFBI NM_000358.2:c.1652C>A NP_000349.1:p.Pro551Gln NM_000358.2:c.1652C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592,15531312 All ages 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 -5 151566159 A G CompoundHeterozygote 208976 RCV000201322 205443 FAT2 NM_001447.2:c.2773T>C NP_001438.1:p.Cys925Arg NM_001447.2:c.2773T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -5 151568002 A C CompoundHeterozygote 208976 RCV000201322 205444 FAT2 NM_001447.2:c.930T>G NP_001438.1:p.Asn310Lys NM_001447.2:c.930T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -5 151822764 C T CompoundHeterozygote 38338 RCV000031896 46901 GLRA1 NM_001146040.1:c.1283G>A NP_001139512.1:p.Arg428His NM_001146040.1:c.1283G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 GeneReviews Hyperekplexia hereditary;Hyperekplexia 20301437 Infancy <1 / 1 000 000 not provided GeneReviews:NBK1260;Genetic Alliance:Hyperekplexia+hereditary/3551;MedGen:C1835614;OMIM:138491.0001;OMIM:138491.0002;OMIM:138491.0003;OMIM:138491.0004;OMIM:138491.0005;OMIM:138491.0006;OMIM:138491.0007;OMIM:138491.0008;OMIM:138491.0009;OMIM:138491.0010;OMIM:138491.0011;OMIM:138491.0012;OMIM:138491.0013;OMIM:138491.0014;OMIM:138491.0015;OMIM:149400;Office of Rare Diseases:3129;Orphanet:3197 -5 151828950 G A CompoundHeterozygote 38336 RCV000031894 46899 GLRA1 NM_001146040.1:c.1030C>T NP_001139512.1:p.Arg344Ter NM_001146040.1:c.1030C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Hyperekplexia hereditary;Hyperekplexia 20301437 Infancy <1 / 1 000 000 not provided GeneReviews:NBK1260;Genetic Alliance:Hyperekplexia+hereditary/3551;MedGen:C1835614;OMIM:138491.0001;OMIM:138491.0002;OMIM:138491.0003;OMIM:138491.0004;OMIM:138491.0005;OMIM:138491.0006;OMIM:138491.0007;OMIM:138491.0008;OMIM:138491.0009;OMIM:138491.0010;OMIM:138491.0011;OMIM:138491.0012;OMIM:138491.0013;OMIM:138491.0014;OMIM:138491.0015;OMIM:149400;Office of Rare Diseases:3129;Orphanet:3197 -5 151851463 C T CompoundHeterozygote 38338 RCV000031896 46902 GLRA1 NM_001146040.1:c.839G>A NP_001139512.1:p.Arg280His NM_001146040.1:c.839G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Hyperekplexia hereditary;Hyperekplexia 20301437 Infancy <1 / 1 000 000 not provided GeneReviews:NBK1260;Genetic Alliance:Hyperekplexia+hereditary/3551;MedGen:C1835614;OMIM:138491.0001;OMIM:138491.0002;OMIM:138491.0003;OMIM:138491.0004;OMIM:138491.0005;OMIM:138491.0006;OMIM:138491.0007;OMIM:138491.0008;OMIM:138491.0009;OMIM:138491.0010;OMIM:138491.0011;OMIM:138491.0012;OMIM:138491.0013;OMIM:138491.0014;OMIM:138491.0015;OMIM:149400;Office of Rare Diseases:3129;Orphanet:3197 -5 151856337 T C CompoundHeterozygote 38337 RCV000031895 31107 GLRA1 NM_001146040.1:c.523A>G NP_001139512.1:p.Met175Val NM_001146040.1:c.523A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Hyperekplexia hereditary;Hyperekplexia 20301437 Infancy <1 / 1 000 000 not provided GeneReviews:NBK1260;Genetic Alliance:Hyperekplexia+hereditary/3551;MedGen:C1835614;OMIM:138491.0001;OMIM:138491.0002;OMIM:138491.0003;OMIM:138491.0004;OMIM:138491.0005;OMIM:138491.0006;OMIM:138491.0007;OMIM:138491.0008;OMIM:138491.0009;OMIM:138491.0010;OMIM:138491.0011;OMIM:138491.0012;OMIM:138491.0013;OMIM:138491.0014;OMIM:138491.0015;OMIM:149400;Office of Rare Diseases:3129;Orphanet:3197 -5 151859962 CG C CompoundHeterozygote 38337 RCV000031895 31106 GLRA1 NM_001146040.1:c.298delC NP_001139512.1:p.Arg100Alafs NM_001146040.1:c.298delC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Hyperekplexia hereditary;Hyperekplexia 20301437 Infancy <1 / 1 000 000 not provided GeneReviews:NBK1260;Genetic Alliance:Hyperekplexia+hereditary/3551;MedGen:C1835614;OMIM:138491.0001;OMIM:138491.0002;OMIM:138491.0003;OMIM:138491.0004;OMIM:138491.0005;OMIM:138491.0006;OMIM:138491.0007;OMIM:138491.0008;OMIM:138491.0009;OMIM:138491.0010;OMIM:138491.0011;OMIM:138491.0012;OMIM:138491.0013;OMIM:138491.0014;OMIM:138491.0015;OMIM:149400;Office of Rare Diseases:3129;Orphanet:3197 -5 151859973 C A CompoundHeterozygote 38336 RCV000031894 46900 GLRA1 NM_001146040.1:c.288G>T NP_001139512.1:p.Trp96Cys NM_001146040.1:c.288G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Hyperekplexia hereditary;Hyperekplexia 20301437 Infancy <1 / 1 000 000 not provided GeneReviews:NBK1260;Genetic Alliance:Hyperekplexia+hereditary/3551;MedGen:C1835614;OMIM:138491.0001;OMIM:138491.0002;OMIM:138491.0003;OMIM:138491.0004;OMIM:138491.0005;OMIM:138491.0006;OMIM:138491.0007;OMIM:138491.0008;OMIM:138491.0009;OMIM:138491.0010;OMIM:138491.0011;OMIM:138491.0012;OMIM:138491.0013;OMIM:138491.0014;OMIM:138491.0015;OMIM:149400;Office of Rare Diseases:3129;Orphanet:3197 -6 10874380 A T Haplotype 375590 RCV000417072 362401 GCM2 NM_004752.3:c.1136T>A NP_004743.1:p.Leu379Gln NM_004752.3:c.1136T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HYPERPARATHYROIDISM 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:603716.0005;OMIM:603716.0006;OMIM:617343 -6 10874765 G C Haplotype 375590 RCV000417072 362400 GCM2 NM_004752.3:c.751C>G NP_004743.1:p.Gln251Glu NM_004752.3:c.751C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HYPERPARATHYROIDISM 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:603716.0005;OMIM:603716.0006;OMIM:617343 -6 18130687 T C Haplotype 12722 RCV000013559 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response;other 0 0 0 no assertion criteria provided 0 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;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 -6 18138997 C T Haplotype 12722 RCV000013559 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response;other 0 0 0 no assertion criteria provided 0 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;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 -6 32039178 C G CompoundHeterozygote 375280 RCV000416360 362051 CYP21A2 NM_000500.7:c.377C>G NP_000491.4:p.Ser126Ter NM_000500.7:c.377C>G:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 21-hydroxylase deficiency 20301350,25741868 inherited GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 -6 32039426 T A CompoundHeterozygote 375268;375280 RCV000416339;RCV000416360 27189 CYP21A2 NM_000500.7:c.518T>A NP_000491.4:p.Ile173Asn NM_000500.7:c.518T>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 21-hydroxylase deficiency 20301350,25741868 inherited GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 -6 32039807 T A Haplotype 31662 RCV000012947 33507 CYP21A2 NM_000500.7:c.710T>A NP_000491.4:p.Ile237Asn NM_000500.7:c.710T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -6 32039810 T A Haplotype 31662;65613 RCV000012947;RCV000055823 27212 CYP21A2 NM_000500.7:c.713T>A NP_000491.4:p.Val238Glu NM_000500.7:c.713T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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;20301350 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 -6 32039816 T A Haplotype 31662;65613 RCV000012947;RCV000055823 40032 CYP21A2 NM_000500.7:c.719T>A NP_000491.4:p.Met240Lys NM_000500.7:c.719T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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;20301350 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 -6 32040093 AGCTCCTGGAAGG A CompoundHeterozygote 375268 RCV000416339 361971 CYP21A2 NM_000500.7:c.830_841delTCCTGGAAGGGC NP_000491.4:p.Leu277_Gly280del not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 21-hydroxylase deficiency 20301350,25741868 inherited GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 -6 32040110 G T Haplotype 12182 RCV000417198 27190 CYP21A2 NM_000500.7:c.844G>T NP_000491.4:p.Val282Leu NM_000500.7:c.844G>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 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 -6 32040182 G GT Haplotype 12182 RCV000417198 76519 CYP21A2 NM_000500.7:c.923dupT NP_000491.4:p.Leu308Phefs NM_000500.7:c.923dupT:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 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 -6 32040421 C T Haplotype 12182 RCV000417198 27208 CYP21A2 NM_000500.7:c.955C>T NP_000491.4:p.Gln319Ter NM_000500.7:c.955C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 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 -6 32040535 C T Haplotype 12182 RCV000417198 27191 CYP21A2 NM_000500.7:c.1069C>T NP_000491.4:p.Arg357Trp NM_000500.7:c.1069C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 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 -6 39909922 G A CompoundHeterozygote 208497 RCV000190510 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 0 0 0 criteria provided, single submitter 1 Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 Antenatal germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 -6 39912909 C T CompoundHeterozygote 208497 RCV000190510 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 0 0 0 criteria provided, multiple submitters, no conflicts 2 Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 Antenatal germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 -6 49440270 GC G CompoundHeterozygote 216966 RCV000197802 213573 MUT NM_000255.3:c.1891delG NP_000246.2:p.Ala631Glnfs NM_000255.3:c.1891delG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 20301409,25326637 Autosomal recessive inheritance germline GeneReviews:NBK1231;Genetic Alliance:Methylmalonyl-Coenzyme+A+mutase+deficiency/4721;Genetic Testing Registry (GTR):GTR000501452;Genetic Testing Registry (GTR):GTR000501455;Genetic Testing Registry (GTR):GTR000506447;Genetic Testing Registry (GTR):GTR000509073;Genetic Testing Registry (GTR):GTR000519388;Genetic Testing Registry (GTR):GTR000521400;Genetic Testing Registry (GTR):GTR000528607;Genetic Testing Registry (GTR):GTR000552249;MedGen:C1855114;OMIM:251000 -6 49459145 G A CompoundHeterozygote 216966 RCV000197802 16926 MUT NM_000255.3:c.322C>T NP_000246.2:p.Arg108Cys NM_000255.3:c.322C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 20301409,25326637 Autosomal recessive inheritance germline GeneReviews:NBK1231;Genetic Alliance:Methylmalonyl-Coenzyme+A+mutase+deficiency/4721;Genetic Testing Registry (GTR):GTR000501452;Genetic Testing Registry (GTR):GTR000501455;Genetic Testing Registry (GTR):GTR000506447;Genetic Testing Registry (GTR):GTR000509073;Genetic Testing Registry (GTR):GTR000519388;Genetic Testing Registry (GTR):GTR000521400;Genetic Testing Registry (GTR):GTR000528607;Genetic Testing Registry (GTR):GTR000552249;MedGen:C1855114;OMIM:251000 -6 49612504 C T Haplotype 13065 RCV000013940 38460 RHAG NM_000324.2:c.838G>A NP_000315.2:p.Gly280Arg NM_000324.2:c.838G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Rh-null hemolytic anemia, regulator type;RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE 9915949 germline MedGen:C4016364 -6 49612534 C T Haplotype 13065 RCV000013940 28104 RHAG NM_000324.2:c.808G>A NP_000315.2:p.Val270Ile NM_000324.2:c.808G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Rh-null hemolytic anemia, regulator type;RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE 9915949 germline MedGen:C4016364 -6 52424111 C A Haplotype 2067 RCV000002148 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 Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895,15258581 germline -6 52452776 G A Haplotype 2067 RCV000002148 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 Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895,15258581 germline -6 129098299 G T CompoundHeterozygote 216956 RCV000200517 213563 LAMA2 NM_000426.3:c.523G>T NP_000417.2:p.Glu175Ter NM_000426.3:c.523G>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468,21078917,22420014,25326637,27854218 Autosomal recessive inheritance Neonatal 1-9 / 1 000 000 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;Genetic Testing Registry (GTR):GTR000334601;Genetic Testing Registry (GTR):GTR000502396;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000508586;Genetic Testing Registry (GTR):GTR000512397;Genetic Testing Registry (GTR):GTR000514604;Genetic Testing Registry (GTR):GTR000518953;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 -6 129252243 AAG A CompoundHeterozygote 216956 RCV000200517 46904 LAMA2 NM_000426.3:c.2049_2050delAG NP_000417.2:p.Arg683Serfs NM_000426.3:c.2049_2050delAG:frameshift variant Pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations 1 UCLA Clinical Genomics Center, UCLA Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468,21078917,22420014,25326637,27854218 Autosomal recessive inheritance Neonatal 1-9 / 1 000 000 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;Genetic Testing Registry (GTR):GTR000334601;Genetic Testing Registry (GTR):GTR000502396;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000508586;Genetic Testing Registry (GTR):GTR000512397;Genetic Testing Registry (GTR):GTR000514604;Genetic Testing Registry (GTR):GTR000518953;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 -6 129280071 A C Haplotype 190218 RCV000170437 188050 LAMA2 NM_000426.3:c.2461A>C NP_000417.2:p.Thr821Pro NM_000426.3:c.2461A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468,21078917,22420014,22675738 Autosomal recessive inheritance Neonatal 1-9 / 1 000 000 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;Genetic Testing Registry (GTR):GTR000334601;Genetic Testing Registry (GTR):GTR000502396;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000508586;Genetic Testing Registry (GTR):GTR000512397;Genetic Testing Registry (GTR):GTR000514604;Genetic Testing Registry (GTR):GTR000518953;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 -6 129481381 T C CompoundHeterozygote 224661 RCV000228823 29333 LAMA2 NM_000426.3:c.7691T>C NP_000417.2:p.Leu2564Pro NM_000426.3:c.7691T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Center for Genetic Medicine Research,Children's National Medical Center Merosin deficient congenital muscular dystrophy 20301468,21078917,22420014,27854218 Autosomal recessive inheritance Neonatal 1-9 / 1 000 000 unknown GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;Genetic Testing Registry (GTR):GTR000334601;Genetic Testing Registry (GTR):GTR000502396;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000508586;Genetic Testing Registry (GTR):GTR000512397;Genetic Testing Registry (GTR):GTR000514604;Genetic Testing Registry (GTR):GTR000518953;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 -6 129502696 T C Haplotype 190218 RCV000170437 188051 LAMA2 NM_000426.3:c.8282T>C NP_000417.2:p.Ile2761Thr NM_000426.3:c.8282T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468,21078917,22420014,22675738 Autosomal recessive inheritance Neonatal 1-9 / 1 000 000 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;Genetic Testing Registry (GTR):GTR000334601;Genetic Testing Registry (GTR):GTR000502396;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000508586;Genetic Testing Registry (GTR):GTR000512397;Genetic Testing Registry (GTR):GTR000514604;Genetic Testing Registry (GTR):GTR000518953;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 -6 129516231 C T CompoundHeterozygote 224661 RCV000228823 29330 LAMA2 NM_000426.3:c.9253C>T NP_000417.2:p.Arg3085Ter NM_000426.3:c.9253C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 Center for Genetic Medicine Research,Children's National Medical Center Merosin deficient congenital muscular dystrophy 20301468,21078917,22420014,27854218 Autosomal recessive inheritance Neonatal 1-9 / 1 000 000 unknown GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;Genetic Testing Registry (GTR):GTR000334601;Genetic Testing Registry (GTR):GTR000502396;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000508586;Genetic Testing Registry (GTR):GTR000512397;Genetic Testing Registry (GTR):GTR000514604;Genetic Testing Registry (GTR):GTR000518953;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 -6 135318577 G A CompoundHeterozygote 216887 RCV000200234 101653 AHI1 NM_017651.4:c.3368C>T NP_060121.3:p.Ser1123Phe NM_001134831.1:c.3368C>T:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Joubert syndrome 3;Joubert syndrome 3 20301500,25326637 Autosomal recessive inheritance Infancy germline GeneReviews:NBK1325;Genetic Alliance:Joubert+syndrome+3/3920;Genetic Testing Registry (GTR):GTR000500621;Genetic Testing Registry (GTR):GTR000512667;Genetic Testing Registry (GTR):GTR000521226;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000552165;Genetic Testing Registry (GTR):GTR000552175;MedGen:C1837713;OMIM:608629;Office of Rare Diseases:10168;Orphanet:220493 -6 135428691 C A CompoundHeterozygote 216887 RCV000200234 213564 AHI1 NM_017651.4:c.2561G>T NP_060121.3:p.Cys854Phe NM_001134831.1:c.2561G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Joubert syndrome 3;Joubert syndrome 3 20301500,25326637 Autosomal recessive inheritance Infancy germline GeneReviews:NBK1325;Genetic Alliance:Joubert+syndrome+3/3920;Genetic Testing Registry (GTR):GTR000500621;Genetic Testing Registry (GTR):GTR000512667;Genetic Testing Registry (GTR):GTR000521226;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000552165;Genetic Testing Registry (GTR):GTR000552175;MedGen:C1837713;OMIM:608629;Office of Rare Diseases:10168;Orphanet:220493 -6 151430154 T C CompoundHeterozygote 161981 RCV000149406 171703 RMND1 NM_017909.3:c.713A>G NP_060379.2:p.Asn238Ser NM_017909.3:c.713A>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 Department of Human Genetics,McGill University Combined oxidative phosphorylation deficiency 11;Combined oxidative phosphorylation deficiency 11 27412952 Infancy <1 / 1 000 000 germline MedGen:C3554067;OMIM:614922;Orphanet:324535 -6 151436446 C A CompoundHeterozygote 161981 RCV000149406 171704 RMND1 NM_017909.3:c.613G>T NP_060379.2:p.Asp205Tyr NM_017909.3:c.613G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Department of Human Genetics,McGill University Combined oxidative phosphorylation deficiency 11;Combined oxidative phosphorylation deficiency 11 27412952 Infancy <1 / 1 000 000 germline MedGen:C3554067;OMIM:614922;Orphanet:324535 -6 152236240 G A CompoundHeterozygote 217010 RCV000200158 213565 SYNE1 NM_182961.3:c.20263C>T NP_892006.3:p.Arg6755Ter NM_033071.3:c.20050C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spinocerebellar ataxia, autosomal recessive 8;Spinocerebellar ataxia, autosomal recessive 8 20301553,25326637 Adult <1 / 1 000 000 unknown GeneReviews:NBK1379;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+8/9341;MedGen:C1853116;OMIM:610743;Orphanet:88644 -6 152369497 T A CompoundHeterozygote 217009 RCV000197641 213566 SYNE1 NM_033071.3:c.9646A>T NP_149062.1:p.Lys3216Ter NM_033071.3:c.9646A>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spinocerebellar ataxia, autosomal recessive 8;Spinocerebellar ataxia, autosomal recessive 8 20301553,25326637 Adult <1 / 1 000 000 unknown GeneReviews:NBK1379;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+8/9341;MedGen:C1853116;OMIM:610743;Orphanet:88644 -6 152376443 C T Haplotype 92124 RCV000077790 97550 SYNE1 NM_033071.3:c.9283G>A NP_149062.1:p.Ala3095Thr NM_182961.3:c.9262G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720,24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 -6 152391364 C T CompoundHeterozygote 217010 RCV000200158 213567 SYNE1 NM_033071.3:c.7938G>A NP_149062.1:p.Trp2646Ter NM_033071.3:c.7938G>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spinocerebellar ataxia, autosomal recessive 8;Spinocerebellar ataxia, autosomal recessive 8 20301553,25326637 Adult <1 / 1 000 000 unknown GeneReviews:NBK1379;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+8/9341;MedGen:C1853116;OMIM:610743;Orphanet:88644 -6 152433794 C A CompoundHeterozygote 217009 RCV000197641 213568 SYNE1 NM_033071.3:c.4482+1G>T NM_033071.3:c.4482+1G>T:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spinocerebellar ataxia, autosomal recessive 8;Spinocerebellar ataxia, autosomal recessive 8 20301553,25326637 Adult <1 / 1 000 000 unknown GeneReviews:NBK1379;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+8/9341;MedGen:C1853116;OMIM:610743;Orphanet:88644 -6 152463486 T C Haplotype 92124 RCV000077790 97551 SYNE1 NM_033071.3:c.1985A>G NP_149062.1:p.Gln662Arg NM_182961.3:c.1964A>G:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720,24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 -7 76054872 G A CompoundHeterozygote 267189 RCV000408947 262040 MDH2 NM_005918.3:c.109G>A NP_005909.2:p.Gly37Arg NM_001282404.1:c.-86-2538G>A:intron variant;NM_005918.3:c.109G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Genetics of Mitochondrial Disorders,HelmholtzZentrum Munchen Infantile encephalopathy;Infantile encephalopathy 27989324 not applicable MedGen:CN238762 -7 76058047 C T CompoundHeterozygote 267189 RCV000408947 260444 MDH2 NM_005918.3:c.398C>T NP_005909.2:p.Pro133Leu NM_005918.3:c.398C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Genetics of Mitochondrial Disorders,HelmholtzZentrum Munchen Infantile encephalopathy;Infantile encephalopathy 27989324 not applicable MedGen:CN238762 -7 87443683 G C Haplotype 217883 RCV000201938 214536 ABCB4 NM_018849.2:c.1210C>G NP_061337.1:p.Pro404Ala NM_018849.2:c.1210C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488,9419367 Autosomal recessive inheritance 1-9 / 100 000 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetic Testing Registry (GTR):GTR000500352;Genetic Testing Registry (GTR):GTR000506478;Genetic Testing Registry (GTR):GTR000512463;Genetic Testing Registry (GTR):GTR000514610;Genetic Testing Registry (GTR):GTR000552156;Genetic Testing Registry (GTR):GTR000552234;Genetic Testing Registry (GTR):GTR000552355;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 -7 87453049 C T Haplotype 217883 RCV000201938 214537 ABCB4 NM_018849.2:c.431G>A NP_061337.1:p.Arg144Gln NM_018849.2:c.431G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488,9419367 Autosomal recessive inheritance 1-9 / 100 000 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetic Testing Registry (GTR):GTR000500352;Genetic Testing Registry (GTR):GTR000506478;Genetic Testing Registry (GTR):GTR000512463;Genetic Testing Registry (GTR):GTR000514610;Genetic Testing Registry (GTR):GTR000552156;Genetic Testing Registry (GTR):GTR000552234;Genetic Testing Registry (GTR):GTR000552355;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 -7 97852297 G A CompoundHeterozygote 208919 RCV000201411 97318 ASNS NM_183356.3:c.1648C>T NP_899199.2:p.Arg550Cys NM_183356.3:c.1648C>T:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter 1 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -7 97853097 G A CompoundHeterozygote 208919 RCV000201411 205458 ASNS NM_183356.3:c.1439C>T NP_899199.2:p.Ser480Phe NM_183356.3:c.1439C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -7 103491969 A C CompoundHeterozygote 208940 RCV000201320 205454 RELN NM_005045.3:c.9427T>G NP_005036.2:p.Tyr3143Asp NM_005045.3:c.9427T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -7 103636325 C T CompoundHeterozygote 208940 RCV000201320 205455 RELN NM_005045.3:c.2213G>A NP_005036.2:p.Cys738Tyr NM_005045.3:c.2213G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -7 107672182 C T CompoundHeterozygote 236064 RCV000225014 52724 SLC26A4 NM_000441.1:c.349C>T NP_000432.1:p.Leu117Phe NM_000441.1:c.349C>T:missense variant Pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations 1 Laboratory of Prof. Karen Avraham,Tel Aviv University Enlarged vestibular aqueduct syndrome 20301607,20301640 Infancy 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 -7 107674326 C T CompoundHeterozygote 236064 RCV000225014 19869 SLC26A4 NM_000441.1:c.578C>T NP_000432.1:p.Thr193Ile NM_000441.1:c.578C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Enlarged vestibular aqueduct syndrome 20301607,20301640 Infancy 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 -7 107695963 A C Haplotype 4816 RCV000005085 38434 SLC26A4 NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu NM_000441.1:c.1468A>C:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264,20301607,20301640,9500541 Infancy 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 -7 107695984 G A Haplotype 4816 RCV000005085 19855 SLC26A4 NM_000441.1:c.1489G>A NP_000432.1:p.Gly497Ser NM_000441.1:c.1489G>A:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264,20301607,20301640,9500541 Infancy 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 -7 117530975 G A Haplotype 209047 RCV000190992 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic;drug response 1 0 0 practice guideline 4 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952,12394352,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,23974870,24014130,25431289,25981758,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 -7 117540305 C A Haplotype 40200 RCV000007589 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952,12394352,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,7679367,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 -7 117540309 C A Haplotype 40200 RCV000007589 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952,12394352,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,7679367,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 -7 117603609 C T Haplotype 7239 RCV000007661 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Benign 0 1 0 criteria provided, single submitter 1 OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952,12394352,15744523,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,8528204,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 -7 117642451 G T Haplotype 7239 RCV000007661 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant not provided 0 0 0 no assertion provided 0 OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952,12394352,15744523,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,8528204,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 -7 128830955 C G CompoundHeterozygote 265766 RCV000256190 260440 FLNC NM_001458.4:c.318C>G NP_001449.3:p.Phe106Leu NM_001458.4:c.318C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 emedgene Technologies Primary dilated cardiomyopathy 16839424,20301486,21810866 Autosomal dominant inheritance germline GeneReviews:NBK1309;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500470;Genetic Testing Registry (GTR):GTR000500686;Genetic Testing Registry (GTR):GTR000502612;Genetic Testing Registry (GTR):GTR000506437;Genetic Testing Registry (GTR):GTR000509953;Genetic Testing Registry (GTR):GTR000509954;Genetic Testing Registry (GTR):GTR000511228;Genetic Testing Registry (GTR):GTR000511230;Genetic Testing Registry (GTR):GTR000511279;Genetic Testing Registry (GTR):GTR000511446;Genetic Testing Registry (GTR):GTR000519311;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):GTR000521335;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000523333;Genetic Testing Registry (GTR):GTR000523356;Genetic Testing Registry (GTR):GTR000523362;Genetic Testing Registry (GTR):GTR000523363;Genetic Testing Registry (GTR):GTR000528349;Genetic Testing Registry (GTR):GTR000528433;Genetic Testing Registry (GTR):GTR000528434;Genetic Testing Registry (GTR):GTR000528435;Genetic Testing Registry (GTR):GTR000528436;Genetic Testing Registry (GTR):GTR000528437;Genetic Testing Registry (GTR):GTR000528463;Genetic Testing Registry (GTR):GTR000528464;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528521;Genetic Testing Registry (GTR):GTR000528907;Genetic Testing Registry (GTR):GTR000529018;Genetic Testing Registry (GTR):GTR000551902;Genetic Testing Registry (GTR):GTR000551905;Genetic Testing Registry (GTR):GTR000551928;Genetic Testing Registry (GTR):GTR000552058;Genetic Testing Registry (GTR):GTR000552059;Genetic Testing Registry (GTR):GTR000552574;Human Phenotype Ontology:HP:0001644;MedGen:C0007193;Office of Rare Diseases:221;SNOMED CT:195021004 -7 128844045 C T CompoundHeterozygote 265766 RCV000256190 260441 FLNC NM_001458.4:c.2971C>T NP_001449.3:p.Arg991Ter NM_001458.4:c.2971C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 emedgene Technologies Primary dilated cardiomyopathy 16839424,20301486,21810866 Autosomal dominant inheritance germline GeneReviews:NBK1309;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500470;Genetic Testing Registry (GTR):GTR000500686;Genetic Testing Registry (GTR):GTR000502612;Genetic Testing Registry (GTR):GTR000506437;Genetic Testing Registry (GTR):GTR000509953;Genetic Testing Registry (GTR):GTR000509954;Genetic Testing Registry (GTR):GTR000511228;Genetic Testing Registry (GTR):GTR000511230;Genetic Testing Registry (GTR):GTR000511279;Genetic Testing Registry (GTR):GTR000511446;Genetic Testing Registry (GTR):GTR000519311;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):GTR000521335;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000523333;Genetic Testing Registry (GTR):GTR000523356;Genetic Testing Registry (GTR):GTR000523362;Genetic Testing Registry (GTR):GTR000523363;Genetic Testing Registry (GTR):GTR000528349;Genetic Testing Registry (GTR):GTR000528433;Genetic Testing Registry (GTR):GTR000528434;Genetic Testing Registry (GTR):GTR000528435;Genetic Testing Registry (GTR):GTR000528436;Genetic Testing Registry (GTR):GTR000528437;Genetic Testing Registry (GTR):GTR000528463;Genetic Testing Registry (GTR):GTR000528464;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528521;Genetic Testing Registry (GTR):GTR000528907;Genetic Testing Registry (GTR):GTR000529018;Genetic Testing Registry (GTR):GTR000551902;Genetic Testing Registry (GTR):GTR000551905;Genetic Testing Registry (GTR):GTR000551928;Genetic Testing Registry (GTR):GTR000552058;Genetic Testing Registry (GTR):GTR000552059;Genetic Testing Registry (GTR):GTR000552574;Human Phenotype Ontology:HP:0001644;MedGen:C0007193;Office of Rare Diseases:221;SNOMED CT:195021004 -8 1771262 C T Haplotype 217887 RCV000201947 214538 CLN8 NM_018941.3:c.208C>T NP_061764.2:p.Arg70Cys NM_018941.3:c.208C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191,20301601 Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 -8 1771266 C T CompoundHeterozygote 216905 RCV000197221 213579 CLN8 NM_018941.3:c.212C>T NP_061764.2:p.Ala71Val NM_018941.3:c.212C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Ceroid lipofuscinosis neuronal 8;Ceroid lipofuscinosis neuronal 8 20301601,22220808,25326637 Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 -8 1780264 GTC G CompoundHeterozygote 216905 RCV000197221 71352 CLN8 NM_018941.3:c.562_563delCT NP_061764.2:p.Leu188Valfs NM_018941.3:c.562_563delCT:frameshift variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Ceroid lipofuscinosis neuronal 8;Ceroid lipofuscinosis neuronal 8 20301601,22220808,25326637 Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 -8 1780498 C G Haplotype 217887 RCV000201947 106601 CLN8 NM_018941.3:c.792C>G NP_061764.2:p.Asn264Lys NM_018941.3:c.792C>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191,20301601 Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 -8 31064934 A T Haplotype 5453 RCV000005786 20492 WRN NM_000553.4:c.375A>T NP_000544.2:p.Lys125Asn NM_000553.4:c.375A>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Werner syndrome;WERNER SYNDROME 16673358,20301687,22258520 Adolescent 1-9 / 1 000 000 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 -8 31064962 A G Haplotype 5453 RCV000005786 38386 WRN NM_000553.4:c.403A>G NP_000544.2:p.Lys135Glu NM_000553.4:c.403A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Werner syndrome;WERNER SYNDROME 16673358,20301687,22258520 Adolescent 1-9 / 1 000 000 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 -8 38414166 G C Haplotype 16292 RCV000030930 38475 FGFR1 NM_023110.2:c.2172C>G NP_075598.2:p.Asn724Lys NM_023110.2:c.2172C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Kallmann syndrome 2;HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16606836,20301509,21682876 Autosomal dominant inheritance 1-9 / 100 000;1:30,000 in males and 1:125,000 in females loss of function germline Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital: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;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 -8 38414173 G T Haplotype 16292 RCV000030930 31331 FGFR1 NM_023110.2:c.2165C>A NP_075598.2:p.Pro722His NM_023110.2:c.2165C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Kallmann syndrome 2;HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16606836,20301509,21682876 Autosomal dominant inheritance 1-9 / 100 000;1:30,000 in males and 1:125,000 in females loss of function germline Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital: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;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 -8 74350522 GA G CompoundHeterozygote 216933 RCV000196703 213581 GDAP1 NM_018972.2:c.62delA NP_061845.2:p.Asp21Alafs NM_001040875.2:c.-64+51delA:intron variant;NM_018972.2:c.62delA:frameshift variant;NR_046346.1:n.141delA:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease, recessive intermediate A;Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease, recessive intermediate A;Charcot-Marie-Tooth disease, type 4A 20301462,20301641,20301711,25326637 Autosomal dominant inheritance;Autosomal recessive inheritance Childhood;Infancy <1 / 1 000 000;Currently, CMT4A is considered the most frequent of all autosomal recessive forms of CMT. Molecular genetic testing has shown that the following proportion of individuals with CMT have two disease-causing GDAP1 alleles: 1% - 15% individuals depending on the studied population;The overall prevalence of hereditary neuropathies is estimated at approximately 3:10,000 population. About 30% of these individuals (1:10,000) may have CMT2. The prevalence of the various subtypes of CMT2 is unknown unknown GeneReviews:NBK1285;GeneReviews:NBK1539;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2K/1302;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+4A/1303;Genetic Alliance:Charcot-Marie-Tooth+disease%2C+axonal%2C+with+vocal+cord+paresis%2C+autosomal+recessive/7952;Genetic Alliance:Charcot-Marie-Tooth+disease%2C+recessive+intermediate+A/7955;Genetic Testing Registry (GTR):GTR000332467;Genetic Testing Registry (GTR):GTR000509967;Genetic Testing Registry (GTR):GTR000512498;Genetic Testing Registry (GTR):GTR000514928;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000529452;Genetic Testing Registry (GTR):GTR000552469;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C1842197;MedGen:C1842983;MedGen:C1843183;MedGen:C1859198;OMIM:214400;OMIM:606598.0009;OMIM:606598.0010;OMIM:606598.0012;OMIM:606598.0014;OMIM:606598.0015;OMIM:606598.0017;OMIM:606598.0018;OMIM:606598.0019;OMIM:607706;OMIM:607831;OMIM:608340;Office of Rare Diseases:1252;Office of Rare Diseases:9195;Office of Rare Diseases:9199;Orphanet:101097;Orphanet:217055;Orphanet:99944;Orphanet:99948 -8 74360173 T C CompoundHeterozygote 216933 RCV000196703 213582 GDAP1 NM_018972.2:c.347T>C NP_061845.2:p.Met116Thr NM_018972.2:c.347T>C:missense variant;NR_046346.1:n.281T>C:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease, recessive intermediate A;Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease, recessive intermediate A;Charcot-Marie-Tooth disease, type 4A 20301462,20301641,20301711,25326637 Autosomal dominant inheritance;Autosomal recessive inheritance Childhood;Infancy <1 / 1 000 000;Currently, CMT4A is considered the most frequent of all autosomal recessive forms of CMT. Molecular genetic testing has shown that the following proportion of individuals with CMT have two disease-causing GDAP1 alleles: 1% - 15% individuals depending on the studied population;The overall prevalence of hereditary neuropathies is estimated at approximately 3:10,000 population. About 30% of these individuals (1:10,000) may have CMT2. The prevalence of the various subtypes of CMT2 is unknown unknown GeneReviews:NBK1285;GeneReviews:NBK1539;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2K/1302;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+4A/1303;Genetic Alliance:Charcot-Marie-Tooth+disease%2C+axonal%2C+with+vocal+cord+paresis%2C+autosomal+recessive/7952;Genetic Alliance:Charcot-Marie-Tooth+disease%2C+recessive+intermediate+A/7955;Genetic Testing Registry (GTR):GTR000332467;Genetic Testing Registry (GTR):GTR000509967;Genetic Testing Registry (GTR):GTR000512498;Genetic Testing Registry (GTR):GTR000514928;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000529452;Genetic Testing Registry (GTR):GTR000552469;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C1842197;MedGen:C1842983;MedGen:C1843183;MedGen:C1859198;OMIM:214400;OMIM:606598.0009;OMIM:606598.0010;OMIM:606598.0012;OMIM:606598.0014;OMIM:606598.0015;OMIM:606598.0017;OMIM:606598.0018;OMIM:606598.0019;OMIM:607706;OMIM:607831;OMIM:608340;Office of Rare Diseases:1252;Office of Rare Diseases:9195;Office of Rare Diseases:9199;Orphanet:101097;Orphanet:217055;Orphanet:99944;Orphanet:99948 -8 86632864 C T CompoundHeterozygote 216907 RCV000195502 152872 CNGB3 NM_019098.4:c.1208G>A NP_061971.3:p.Arg403Gln NM_019098.4:c.1208G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Stargardt disease 1;Stargardt disease 1 25326637 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -8 86632879 T C CompoundHeterozygote 216907 RCV000195502 213583 CNGB3 NM_019098.4:c.1193A>G NP_061971.3:p.Tyr398Cys NM_019098.4:c.1193A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Stargardt disease 1;Stargardt disease 1 25326637 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 -8 89958819 G A CompoundHeterozygote 190227 RCV000170446 188057 NBN NM_002485.4:c.1030C>T NP_002476.2:p.Gln344Ter NM_002485.4:c.1030C>T:nonsense Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 Innovations Lab, Hyderabad,Tata Consultancy Services Ltd Microcephaly, normal intelligence and immunodeficiency;Microcephaly, normal intelligence and immunodeficiency 20301355,25677497 Autosomal recessive inheritance Infancy 1-9 / 100 000 paternal GeneReviews:NBK1176;Genetic Alliance:Microcephaly+with+normal+intelligence%2C+immunodeficiency/4760;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552183;MedGen:C0398791;OMIM:251260;Orphanet:647;SNOMED CT:234638009 -8 89970418 A C CompoundHeterozygote 190227 RCV000170446 188058 NBN NM_002485.4:c.842T>G NP_002476.2:p.Leu281Ter NM_002485.4:c.842T>G:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 Innovations Lab, Hyderabad,Tata Consultancy Services Ltd Microcephaly, normal intelligence and immunodeficiency;Microcephaly, normal intelligence and immunodeficiency 20301355,25677497 Autosomal recessive inheritance Infancy 1-9 / 100 000 paternal GeneReviews:NBK1176;Genetic Alliance:Microcephaly+with+normal+intelligence%2C+immunodeficiency/4760;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552183;MedGen:C0398791;OMIM:251260;Orphanet:647;SNOMED CT:234638009 -8 99467549 CT C CompoundHeterozygote 208933 RCV000201400 205459 VPS13B NM_152564.4:c.3582delT NP_689777.3:p.Thr1195Argfs NM_017890.4:c.3582delT:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -8 99699772 CAT C CompoundHeterozygote 208933 RCV000201400 205460 VPS13B NM_017890.4:c.6370_6371delAT NP_060360.3:p.Met2124Valfs NM_017890.4:c.6370_6371delAT:frameshift variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -8 102281379 T C CompoundHeterozygote 207841 RCV000190134 204120 UBR5 NM_015902.5:c.5837A>G NP_056986.2:p.His1946Arg NM_015902.5:c.5837A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Medical Research Institute,Tokyo Medical and Dental University Long QT syndrome;Long QT syndrome 23994779,26132555 Autosomal dominant inheritance loss of function germline Genetic Alliance:Long+QT+Syndrome/4296;Genetic Testing Registry (GTR):GTR000323823;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500471;Genetic Testing Registry (GTR):GTR000500681;Genetic Testing Registry (GTR):GTR000501111;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000511116;Genetic Testing Registry (GTR):GTR000515873;Genetic Testing Registry (GTR):GTR000519089;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519380;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000519389;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520446;Genetic Testing Registry (GTR):GTR000520456;Genetic Testing Registry (GTR):GTR000520458;Genetic Testing Registry (GTR):GTR000520478;Genetic Testing Registry (GTR):GTR000522197;Genetic Testing Registry (GTR):GTR000522200;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000528336;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000552174;Genetic Testing Registry (GTR):GTR000552322;MeSH:D008133;MedGen:C0023976;OMIM:PS192500;SNOMED CT:9651007 -8 102295696 C T CompoundHeterozygote 207841 RCV000190134 204121 UBR5 NM_015902.5:c.3752G>A NP_056986.2:p.Arg1251His NM_015902.5:c.3752G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Medical Research Institute,Tokyo Medical and Dental University Long QT syndrome;Long QT syndrome 23994779,26132555 Autosomal dominant inheritance loss of function germline Genetic Alliance:Long+QT+Syndrome/4296;Genetic Testing Registry (GTR):GTR000323823;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500471;Genetic Testing Registry (GTR):GTR000500681;Genetic Testing Registry (GTR):GTR000501111;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000511116;Genetic Testing Registry (GTR):GTR000515873;Genetic Testing Registry (GTR):GTR000519089;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519380;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000519389;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520446;Genetic Testing Registry (GTR):GTR000520456;Genetic Testing Registry (GTR):GTR000520458;Genetic Testing Registry (GTR):GTR000520478;Genetic Testing Registry (GTR):GTR000522197;Genetic Testing Registry (GTR):GTR000522200;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000528336;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000552174;Genetic Testing Registry (GTR):GTR000552322;MeSH:D008133;MedGen:C0023976;OMIM:PS192500;SNOMED CT:9651007 -8 142912850 A G Haplotype 16876;16877 RCV000018372;RCV000018373 31916 CYP11B2 NM_000498.3:c.1157T>C NP_000489.3:p.Val386Ala NM_000498.3:c.1157T>C:missense variant Benign 0 1 0 criteria provided, single submitter 1 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 Autosomal recessive inheritance Childhood 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 -8 142915047 T G Haplotype 16877 RCV000018373 38484 CYP11B2 NM_000498.3:c.594A>C NP_000489.3:p.Glu198Asp NM_000498.3:c.594A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Corticosterone methyloxidase type 1 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 9814506 Autosomal recessive inheritance Childhood 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 -8 142915100 G A Haplotype 16876 RCV000018372 31915 CYP11B2 NM_000498.3:c.541C>T NP_000489.3:p.Arg181Trp NM_000498.3:c.541C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Corticosterone methyloxidase type 2 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY 1346492,1594605,3262827,4121586,830445,838841 Autosomal recessive inheritance Childhood 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 -9 2115860 G C Haplotype 374221 RCV000415335 361134 SMARCA2 NM_003070.4:c.3495G>C NP_003061.3:p.Gln1165His NM_003070.4:c.3495G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Molecular Genetics,CHU RENNES Nicolaides-Baraitser syndrome;Nicolaides Baraitser syndrome 26468571 Autosomal dominant inheritance Infancy <1 / 1 000 000 de novo Genetic Alliance:Nicolaides+Baraitser+syndrome/5221;Genetic Testing Registry (GTR):GTR000500623;Genetic Testing Registry (GTR):GTR000506329;Genetic Testing Registry (GTR):GTR000506330;Genetic Testing Registry (GTR):GTR000511780;Genetic Testing Registry (GTR):GTR000551668;Genetics Home Reference:nicolaides-baraitser-syndrome;MedGen:C1303073;OMIM:601358;Orphanet:3051;SNOMED CT:401046009 -9 2123873 G A Haplotype 374221 RCV000415335 361135 SMARCA2 NM_003070.4:c.3917G>A NP_003061.3:p.Arg1306Lys NM_003070.4:c.3917G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Molecular Genetics,CHU RENNES Nicolaides-Baraitser syndrome;Nicolaides Baraitser syndrome 26468571 Autosomal dominant inheritance Infancy <1 / 1 000 000 de novo Genetic Alliance:Nicolaides+Baraitser+syndrome/5221;Genetic Testing Registry (GTR):GTR000500623;Genetic Testing Registry (GTR):GTR000506329;Genetic Testing Registry (GTR):GTR000506330;Genetic Testing Registry (GTR):GTR000511780;Genetic Testing Registry (GTR):GTR000551668;Genetics Home Reference:nicolaides-baraitser-syndrome;MedGen:C1303073;OMIM:601358;Orphanet:3051;SNOMED CT:401046009 -9 34646575 CCAGT C Haplotype 140570 RCV000128642 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 Benign;Pathogenic 1 1 1 criteria provided, conflicting interpretations 1 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 Autosomal recessive inheritance 1-9 / 100 000 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;Genetic Testing Registry (GTR):GTR000502919;Genetic Testing Registry (GTR):GTR000503048;Genetic Testing Registry (GTR):GTR000503054;Genetic Testing Registry (GTR):GTR000507573;Genetic Testing Registry (GTR):GTR000509820;Genetic Testing Registry (GTR):GTR000514614;Genetic Testing Registry (GTR):GTR000529378;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006 -9 34648421 C T Haplotype 3620 RCV000003804 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM GALT POLYMORPHISM (LOS ANGELES, D1);GALT POLYMORPHISM (LOS ANGELES, D1) 10408771,10424825,19224951,2011574,4759900,8522334,9012409 germline OMIM:606999.0012 -9 34649445 A G Haplotype 140570;3620 RCV000128642;RCV000003804 18652 GALT NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp NM_000155.3:c.940A>G:missense variant Benign;Likely benign;Pathogenic;other 1 1 1 criteria provided, conflicting interpretations 1 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;10408771,10424825,19224951,2011574,4759900,8522334,9012409 Autosomal recessive inheritance 1-9 / 100 000 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;Genetic Testing Registry (GTR):GTR000502919;Genetic Testing Registry (GTR):GTR000503048;Genetic Testing Registry (GTR):GTR000503054;Genetic Testing Registry (GTR):GTR000507573;Genetic Testing Registry (GTR):GTR000509820;Genetic Testing Registry (GTR):GTR000514614;Genetic Testing Registry (GTR):GTR000529378;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006;OMIM:606999.0012 -9 37424830 TCC T Haplotype 204246 RCV000186453 200618 GRHPR NM_012203.1:c.84-13_84-12delCC NM_012203.1:c.84-13_84-12delCC:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115,20301742 Autosomal recessive inheritance <1 / 1 000 000;unknown, <1 per million loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000328129;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 -9 37424836 TCCCC T Haplotype 204246 RCV000186453 200619 GRHPR NM_012203.1:c.84-8_84-5delCCCC NM_012203.1:c.84-8_84-5delCCCC:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115,20301742 Autosomal recessive inheritance <1 / 1 000 000;unknown, <1 per million loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000328129;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 -9 72754817 C T CompoundHeterozygote 236043 RCV000225031 57040 TMC1 NM_138691.2:c.674C>T NP_619636.2:p.Pro225Leu NM_138691.2:c.674C>T:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 7 18616530,19187973,20301607,21917145 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+7/8184;MedGen:C1832978;OMIM:600974;Orphanet:90636 -9 72789258 C T CompoundHeterozygote 236056 RCV000225055 57020 TMC1 NM_138691.2:c.1165C>T NP_619636.2:p.Arg389Ter NM_138691.2:c.1165C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 7 20301607 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+7/8184;MedGen:C1832978;OMIM:600974;Orphanet:90636 -9 72789303 T C CompoundHeterozygote 236057 RCV000225096 237606 TMC1 NM_138691.2:c.1210T>C NP_619636.2:p.Trp404Arg NM_138691.2:c.1210T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 7 20301607 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+7/8184;MedGen:C1832978;OMIM:600974;Orphanet:90636 -9 72820888 C T CompoundHeterozygote 236043;236055 RCV000225031;RCV000225097 237607 TMC1 NM_138691.2:c.1810C>T NP_619636.2:p.Arg604Ter NM_138691.2:c.1810C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 7 18616530,19187973,20301607,21917145;20301607 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+7/8184;MedGen:C1832978;OMIM:600974;Orphanet:90636 -9 72821017 T C CompoundHeterozygote 236055;236056;236057 RCV000225097;RCV000225055;RCV000225096 229709 TMC1 NM_138691.2:c.1939T>C NP_619636.2:p.Ser647Pro NM_138691.2:c.1939T>C:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 7 20301607 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+7/8184;MedGen:C1832978;OMIM:600974;Orphanet:90636 -9 96254906 C T CompoundHeterozygote 216940 RCV000198988 19913 HSD17B3-AS1 NM_000197.1:c.239G>A NP_000188.1:p.Arg80Gln NM_000197.1:c.239G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Testosterone 17-beta-dehydrogenase deficiency;Testosterone 17-beta-dehydrogenase deficiency 25326637 Autosomal recessive inheritance Adolescent 1-9 / 1 000 000 loss of function unknown Genetic Alliance:17-Ketosteroid+Reductase+Deficiency/8;Genetic Testing Registry (GTR):GTR000500406;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000515567;Genetic Testing Registry (GTR):GTR000519103;Genetic Testing Registry (GTR):GTR000519120;Genetic Testing Registry (GTR):GTR000522527;Genetics Home Reference:17-beta-hydroxysteroid-dehydrogenase-3-deficiency;MedGen:C0268296;OMIM:264300;Orphanet:752;SNOMED CT:50658006 -9 96298423 G A CompoundHeterozygote 216940 RCV000198988 213594 HSD17B3 NM_000197.1:c.194C>T NP_000188.1:p.Ser65Leu NM_000197.1:c.194C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Testosterone 17-beta-dehydrogenase deficiency;Testosterone 17-beta-dehydrogenase deficiency 25326637 Autosomal recessive inheritance Adolescent 1-9 / 1 000 000 loss of function unknown Genetic Alliance:17-Ketosteroid+Reductase+Deficiency/8;Genetic Testing Registry (GTR):GTR000500406;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000515567;Genetic Testing Registry (GTR):GTR000519103;Genetic Testing Registry (GTR):GTR000519120;Genetic Testing Registry (GTR):GTR000522527;Genetics Home Reference:17-beta-hydroxysteroid-dehydrogenase-3-deficiency;MedGen:C0268296;OMIM:264300;Orphanet:752;SNOMED CT:50658006 -9 98578034 T C Haplotype 3331 RCV000003495 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -9 120439426 T C CompoundHeterozygote 190420 RCV000170544 188243 CDK5RAP2 NM_018249.5:c.3695A>G NP_060719.4:p.Asn1232Ser NM_018249.5:c.3695A>G:missense variant;NR_073554.1:n.3964A>G:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Dr. Guy Rouleau's laboratory,McGill University Corpus callosum agenesis;Corpus callosum agenesis 26197979 Autosomal recessive inheritance germline Genetic Alliance:Agenesis+of+the+Corpus+Callosum/263;Genetic Testing Registry (GTR):GTR000331025;Genetic Testing Registry (GTR):GTR000512629;Genetic Testing Registry (GTR):GTR000520970;MedGen:C0175754;OMIM:217990;Office of Rare Diseases:1535;Orphanet:200;Orphanet:ORPHA200 -9 120550818 C G CompoundHeterozygote 190420 RCV000170544 188244 CDK5RAP2 NM_018249.5:c.280G>C NP_060719.4:p.Gly94Arg NM_018249.5:c.280G>C:missense variant;NR_073554.1:n.472G>C:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Dr. Guy Rouleau's laboratory,McGill University Corpus callosum agenesis;Corpus callosum agenesis 26197979 Autosomal recessive inheritance germline Genetic Alliance:Agenesis+of+the+Corpus+Callosum/263;Genetic Testing Registry (GTR):GTR000331025;Genetic Testing Registry (GTR):GTR000512629;Genetic Testing Registry (GTR):GTR000520970;MedGen:C0175754;OMIM:217990;Office of Rare Diseases:1535;Orphanet:200;Orphanet:ORPHA200 -9 124500574 G A Haplotype 12809 RCV000013657;RCV000022775 38458 NR5A1 NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu NM_004959.4:c.386C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -9 124500592 C G Haplotype 12809 RCV000013657;RCV000022775 27848 NR5A1 NM_004959.4:c.368G>C NP_004950.2:p.Gly123Ala NM_004959.4:c.368G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -9 130458549 G T CompoundHeterozygote 265959 RCV000256315 21373 ASS1 NM_000050.4:c.323G>T NP_000041.2:p.Arg108Leu NM_000050.4:c.323G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Citrullinemia type I 11941481,20301631 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneReviews:NBK1458;Genetic Alliance:Citrullinemia+Type+I/1651;Genetic Testing Registry (GTR):GTR000271419;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;Genetic Testing Registry (GTR):GTR000500956;Genetic Testing Registry (GTR):GTR000502091;Genetic Testing Registry (GTR):GTR000503033;Genetic Testing Registry (GTR):GTR000503035;Genetic Testing Registry (GTR):GTR000506270;Genetic Testing Registry (GTR):GTR000506480;Genetic Testing Registry (GTR):GTR000521378;Genetic Testing Registry (GTR):GTR000521920;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000551439;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0175683;OMIM:215700;Office of Rare Diseases:6114;Orphanet:247525 -9 130489469 G A CompoundHeterozygote 265959 RCV000256315 260673 ASS1 NM_000050.4:c.970+5G>A NM_000050.4:c.970+5G>A:intron variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Citrullinemia type I 11941481,20301631 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneReviews:NBK1458;Genetic Alliance:Citrullinemia+Type+I/1651;Genetic Testing Registry (GTR):GTR000271419;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;Genetic Testing Registry (GTR):GTR000500956;Genetic Testing Registry (GTR):GTR000502091;Genetic Testing Registry (GTR):GTR000503033;Genetic Testing Registry (GTR):GTR000503035;Genetic Testing Registry (GTR):GTR000506270;Genetic Testing Registry (GTR):GTR000506480;Genetic Testing Registry (GTR):GTR000521378;Genetic Testing Registry (GTR):GTR000521920;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000551439;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0175683;OMIM:215700;Office of Rare Diseases:6114;Orphanet:247525 -9 132271758 CAA AT CompoundHeterozygote 216997 RCV000200211 213586 SETX NM_015046.5:c.7149_7151delTTGinsAT NP_055861.3:p.Asp2383Glufs NM_015046.5:c.7149_7151delTTGinsAT:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spinocerebellar ataxia autosomal recessive 1;Spinocerebellar ataxia autosomal recessive 1 20050888,20301317,20301333,25326637 Childhood 1-9 / 1 000 000 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 -9 132295872 C T CompoundHeterozygote 216997 RCV000200211 213587 SETX NM_015046.5:c.6106G>A NP_055861.3:p.Gly2036Arg NM_015046.5:c.6106G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spinocerebellar ataxia autosomal recessive 1;Spinocerebellar ataxia autosomal recessive 1 20050888,20301317,20301333,25326637 Childhood 1-9 / 1 000 000 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 -9 132327718 G A Haplotype 2294 RCV000002384 38425 SETX NM_015046.5:c.3880C>T NP_055861.3:p.Arg1294Cys NM_015046.5:c.3880C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 16717225,20050888,20301317,20301333 Childhood 1-9 / 1 000 000 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 -9 132327789 G A Phase unknown 157525 RCV000144869 167387 SETX NM_015046.5:c.3809C>T NP_055861.3:p.Pro1270Leu NM_015046.5:c.3809C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 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 -9 132328521 C CTCA Distinct chromosomes 157528 RCV000144873 167390 SETX NM_015046.5:c.3075_3076insTGA NP_055861.3:p.Arg1026_Lys1360delinsTer NM_015046.5:c.3075_3076insTGA:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -9 132329641 G T Haplotype 2293 RCV000002383 38424 SETX NM_015046.5:c.1957C>A NP_055861.3:p.Gln653Lys NM_015046.5:c.1957C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168,20050888,20301317,20301333 Childhood 1-9 / 1 000 000 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 -9 132329791 T C Haplotype 2293 RCV000002383 17332 SETX NM_015046.5:c.1807A>G NP_055861.3:p.Asn603Asp NM_015046.5:c.1807A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168,20050888,20301317,20301333 Childhood 1-9 / 1 000 000 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 -9 132349370 C T Phase unknown 157525 RCV000144869 167386 SETX NM_015046.5:c.59G>A NP_055861.3:p.Arg20His NM_015046.5:c.59G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 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 -9 133255928 C G Haplotype 17738 RCV000019312 38414 ABO NM_020469.2:c.803G>C NP_065202.2:p.Gly268Ala NM_020469.2:c.803G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -9 133256264 G A Haplotype 17738 RCV000019312 32777 ABO NM_020469.2:c.467C>T NP_065202.2:p.Pro156Leu NM_020469.2:c.467C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -9 133436862 C G Haplotype 5813 RCV000006169 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 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 -9 133437836 G A Haplotype 5813 RCV000006169 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 0 0 0 no assertion provided 0 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 -9 133636672 G A Haplotype 1752 RCV000001822 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564,20301647 Infancy <1 / 1 000 000 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 -9 133647854 G A Haplotype 1752 RCV000001822 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564,20301647 Infancy <1 / 1 000 000 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 -10 12108004 C T CompoundHeterozygote 216918 RCV000199635 213596 DHTKD1 NM_018706.6:c.2143C>T NP_061176.3:p.Arg715Cys NM_018706.6:c.2143C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA 2-aminoadipic 2-oxoadipic aciduria;Aminoadipic aciduria 25326637 <1 / 1 000 000 germline MedGen:C1859817;OMIM:204750;Orphanet:79154 -10 12112930 G A CompoundHeterozygote 216918 RCV000199635 48163 DHTKD1 NM_018706.6:c.2185G>A NP_061176.3:p.Gly729Arg NM_018706.6:c.2185G>A:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA 2-aminoadipic 2-oxoadipic aciduria;Aminoadipic aciduria 25326637 <1 / 1 000 000 germline MedGen:C1859817;OMIM:204750;Orphanet:79154 -10 43114496 G C Haplotype 13906 RCV000014920 28945 RET NM_020975.4:c.1896G>C NP_066124.1:p.Glu632Asp NM_020975.4:c.1896G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;Genetic Testing Registry (GTR):GTR000334280;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501592;Genetic Testing Registry (GTR):GTR000501593;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501595;Genetic Testing Registry (GTR):GTR000508799;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000509879;Genetic Testing Registry (GTR):GTR000510673;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;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 -10 43114497 C G Haplotype 13906 RCV000014920 38399 RET NM_020975.4:c.1897C>G NP_066124.1:p.Leu633Val NM_020975.4:c.1897C>G:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 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 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;Genetic Testing Registry (GTR):GTR000334280;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501592;Genetic Testing Registry (GTR):GTR000501593;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501595;Genetic Testing Registry (GTR):GTR000508799;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000509879;Genetic Testing Registry (GTR):GTR000510673;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;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 -10 43114500 T C Haplotype 13906 RCV000014920 28956 RET NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg NM_020975.4:c.1900T>C:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 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 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;Genetic Testing Registry (GTR):GTR000334280;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501592;Genetic Testing Registry (GTR):GTR000501593;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501595;Genetic Testing Registry (GTR):GTR000508799;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000509879;Genetic Testing Registry (GTR):GTR000510673;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;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 -10 43119548 G A Haplotype 13945 RCV000014972 28984 RET NM_020975.4:c.2410G>A NP_066124.1:p.Val804Met NM_020975.4:c.2410G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416,11788682,19469690,20301434,21863057,23788249,24893135,25356965,27854360,8797874,8918855 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;Genetic Testing Registry (GTR):GTR000021494;Genetic Testing Registry (GTR):GTR000323826;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501596;Genetic Testing Registry (GTR):GTR000508800;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000510675;Genetic Testing Registry (GTR):GTR000512292;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 -10 43120184 C G Haplotype 13945 RCV000014972 36303 RET NM_020975.4:c.2711C>G NP_066124.1:p.Ser904Cys NM_020975.4:c.2711C>G:missense variant Uncertain significance 0 0 0 no assertion criteria provided 0 OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416,11788682,19469690,20301434,21863057,23788249,24893135,25356965,27854360,8797874,8918855 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;Genetic Testing Registry (GTR):GTR000021494;Genetic Testing Registry (GTR):GTR000323826;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501596;Genetic Testing Registry (GTR):GTR000508800;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000510675;Genetic Testing Registry (GTR):GTR000512292;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 -10 62813491 C A Haplotype 16751 RCV000018235 38481 EGR2 NM_000399.4:c.1147G>T NP_000390.2:p.Asp383Tyr NM_000399.4:c.1147G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Neuropathy, congenital hypomyelinating, autosomal dominant;NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 9537424 germline MedGen:CN069993 -10 62813492 A C Haplotype 16751 RCV000018235 31790 EGR2 NM_000399.4:c.1146T>G NP_000390.2:p.Ser382Arg NM_000399.4:c.1146T>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Neuropathy, congenital hypomyelinating, autosomal dominant;NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 9537424 germline MedGen:CN069993 -10 70884002 C T Haplotype 180130 RCV000156929 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Hyperphenylalaninemia, BH4-deficient, D;HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 24848070,9760199 Autosomal recessive inheritance 1-9 / 1 000 000 germline Genetic Alliance:Hyperphenylalaninemia+with+primapterinuria/3595;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;MedGen:C1849700;OMIM:264070;Orphanet:238583 -10 70885854 C A Haplotype 180130 RCV000156929 178311 PCBD1 NM_000281.3:c.79G>T NP_000272.1:p.Glu27Ter NM_000281.3:c.79G>T:nonsense;NM_001289797.1:c.-69G>T:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Hyperphenylalaninemia, BH4-deficient, D;HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 24848070,9760199 Autosomal recessive inheritance 1-9 / 1 000 000 germline Genetic Alliance:Hyperphenylalaninemia+with+primapterinuria/3595;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;MedGen:C1849700;OMIM:264070;Orphanet:238583 -10 78000043 T C CompoundHeterozygote 216984 RCV000198773 40102 POLR3A NM_007055.3:c.2554A>G NP_008986.2:p.Met852Val NM_007055.3:c.2554A>G:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Hypomyelinating leukodystrophy 7;Hypomyelinating leukodystrophy 7 22855961,25326637 <1 / 1 000 000 germline GeneReviews:NBK99167;Genetic Alliance:Leukodystrophy+with+oligodontia/4200;MedGen:C1843200;OMIM:607694;OMIM:614258.0001;OMIM:614258.0002;OMIM:614258.0003;OMIM:614258.0004;OMIM:614258.0005;OMIM:614258.0006;OMIM:614258.0007;Office of Rare Diseases:9632;Orphanet:137639;Orphanet:447893;Orphanet:447896;Orphanet:77295;Orphanet:88637 -10 78025091 GCTT G CompoundHeterozygote 216984 RCV000198773 213601 POLR3A NM_007055.3:c.367_369delAAG NP_008986.2:p.Lys123del NM_007055.3:c.367_369delAAG:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Hypomyelinating leukodystrophy 7;Hypomyelinating leukodystrophy 7 22855961,25326637 <1 / 1 000 000 germline GeneReviews:NBK99167;Genetic Alliance:Leukodystrophy+with+oligodontia/4200;MedGen:C1843200;OMIM:607694;OMIM:614258.0001;OMIM:614258.0002;OMIM:614258.0003;OMIM:614258.0004;OMIM:614258.0005;OMIM:614258.0006;OMIM:614258.0007;Office of Rare Diseases:9632;Orphanet:137639;Orphanet:447893;Orphanet:447896;Orphanet:77295;Orphanet:88637 -10 94313343 T C Haplotype 266012 RCV000256386 260792 PLCE1 NM_016341.3:c.6093T>C NP_057425.3:p.Thr2031= NM_016341.3:c.6093T>C:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Nephrotic syndrome, type 3 All ages germline Genetic Alliance:Nephrotic+syndrome%2C+type+3/8988;MedGen:C1853124;OMIM:610725;Orphanet:656 -10 94324971 G A Haplotype 266012 RCV000256386 260793 PLCE1 NM_016341.3:c.6800G>A NP_057425.3:p.Arg2267Gln NM_016341.3:c.6800G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Nephrotic syndrome, type 3 All ages germline Genetic Alliance:Nephrotic+syndrome%2C+type+3/8988;MedGen:C1853124;OMIM:610725;Orphanet:656 -10 94942290 C T Haplotype 177709 RCV000154312 23448 CYP2C9 NM_000771.3:c.430C>T NP_000762.2:p.Arg144Cys NM_000771.3:c.430C>T:missense variant drug response 0 0 0 reviewed by expert panel 3 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915,18281922,20504253,24251364,26186657 Alelle frequencies: CYP2C9*2- Caucasians 15%, Hispanics 7%, African-Americans 3%, Asians 3%: CYP2C9*3- Caucasians 6%, Hispanics 6%, African-Americans 2%, Asians 4%: VKORC1*2 (-1639G>A) - Caucasians 41%, Hispanics 44%, African-Americans 11%, Asians 90%. germline Genetic Alliance:Warfarin+response/9469;Genetic Testing Registry (GTR):GTR000500237;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 -10 94981296 A C Haplotype 163021 RCV000150378 23447 CYP2C9 NM_000771.3:c.1075A>C NP_000762.2:p.Ile359Leu NM_000771.3:c.1075A>C:missense variant drug response 0 0 0 reviewed by expert panel 3 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915,18281922,20504253,24251364,26186657 Alelle frequencies: CYP2C9*2- Caucasians 15%, Hispanics 7%, African-Americans 3%, Asians 3%: CYP2C9*3- Caucasians 6%, Hispanics 6%, African-Americans 2%, Asians 4%: VKORC1*2 (-1639G>A) - Caucasians 41%, Hispanics 44%, African-Americans 11%, Asians 90%. germline Genetic Alliance:Warfarin+response/9469;Genetic Testing Registry (GTR):GTR000500237;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 -10 119030538 G A Haplotype 65392 RCV000055619 76326 NANOS1 NM_199461.3:c.737G>A NP_955631.1:p.Arg246His NM_199461.3:c.737G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 -10 119030627 CG TA Haplotype 65392 RCV000055619 76327 NANOS1 NM_199461.3:c.826_827delCGinsTA NP_955631.1:p.Arg276Tyr NM_199461.3:c.826_827delCGinsTA:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 -10 122461777 AG A CompoundHeterozygote 156102 RCV000144150 165898 HTRA1 NM_002775.4:c.126delG NP_002766.1:p.Glu42Aspfs NM_002775.4:c.126delG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 1,20437615,24500651 Adolescent germline GeneReviews:NBK32533;Genetic Alliance:Cerebral+Autosomal+Recessive+Arteriopathy+with+Subcortical+Infarcts+and+Leukoencephalopathy/1222;MedGen:C1838577;OMIM:600142;Office of Rare Diseases:10424;Orphanet:199354 -10 122506874 G A CompoundHeterozygote 156102 RCV000144150 165899 HTRA1 NM_002775.4:c.961G>A NP_002766.1:p.Ala321Thr NM_002775.4:c.961G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 1,20437615,24500651 Adolescent germline GeneReviews:NBK32533;Genetic Alliance:Cerebral+Autosomal+Recessive+Arteriopathy+with+Subcortical+Infarcts+and+Leukoencephalopathy/1222;MedGen:C1838577;OMIM:600142;Office of Rare Diseases:10424;Orphanet:199354 -10 133526101 G C Haplotype 16887 RCV000018383 136523 CYP2E1 NM_000773.3:c.-1295G>C NM_000773.3:c.-1295G>C:2KB upstream variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395,1778977,19444287 germline OMIM:124040.0001 -10 133526341 C T Haplotype 16887 RCV000018383 136524 CYP2E1 NM_000773.3:c.-1055C>T NM_000773.3:c.-1055C>T:2KB upstream variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395,1778977,19444287 germline OMIM:124040.0001 -11 2572089 G A Haplotype 3146 RCV000003296 18157 KCNQ1 NM_000218.2:c.760G>A NP_000209.2:p.Val254Met NM_000218.2:c.760G>A:missense variant Likely pathogenic;Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849,12820704,14678125,1475667,14756674,20301308,21810866,23788249,25356965,27854360,8528244,9386136 Autosomal dominant inheritance 1-5 / 10 000 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;Genetic Testing Registry (GTR):GTR000260589;Genetic Testing Registry (GTR):GTR000323829;Genetic Testing Registry (GTR):GTR000500450;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000510878;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520076;Genetic Testing Registry (GTR):GTR000521333;Genetic Testing Registry (GTR):GTR000523357;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000552366;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 -11 2587690 G A Haplotype 3146 RCV000003296 38428 KCNQ1 NM_181798.1:c.868G>A NP_000209.2:p.Val417Met NM_000218.2:c.1249G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849,12820704,14678125,1475667,14756674,20301308,21810866,23788249,25356965,27854360,8528244,9386136 Autosomal dominant inheritance 1-5 / 10 000 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;Genetic Testing Registry (GTR):GTR000260589;Genetic Testing Registry (GTR):GTR000323829;Genetic Testing Registry (GTR):GTR000500450;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000510878;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520076;Genetic Testing Registry (GTR):GTR000521333;Genetic Testing Registry (GTR):GTR000523357;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000552366;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 -11 5225609 T A Haplotype 15617 RCV000016884 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 -11 5225614 G A Haplotype 15337 RCV000016580 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 19257,20942 germline OMIM:141900.0247 -11 5225618 G C Haplotype 15617 RCV000016884 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 -11 5225675 A G Haplotype 15581 RCV000016848 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 -11 5225678 C G Haplotype 15366;15496;15591 RCV000016617;RCV000016758;RCV000016858 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant Pathogenic;other 1 0 0 criteria provided, single submitter 1 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;1177278,1244906,12709369,15108284,16370495,16540414,1787096,19440680,19460936,20437613,20704537,20838957,21119755,2930724,4613830,640855,893136;11570725,1177278,1244906,12709369,15108284,16370495,16540414,19440680,19460936,20437613,20704537,20838957,21119755,2930724,4613830,640855,893136 germline OMIM:141900.0276;OMIM:141900.0407;OMIM:141900.0502 -11 5225678 C T Haplotype 15335;15596 RCV000016577;RCV000016863 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic;other 1 0 0 no assertion criteria provided 0 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;1112610,11179419,11939508,14282052,15108284,15502081,15543018,15710580,15710581,1732017,18254282,19783722,20704537,20854120,2930724,3859465,5481775,5915974,6716421,8195007,893136,9049622,9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0507 -11 5225683 C T Haplotype 15165;15262 RCV000016336;RCV000016486 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN MASUDA 11828,7852084;2634673 germline OMIM:141900.0075;OMIM:141900.0172 -11 5225699 G T Haplotype 15262 RCV000016486 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 -11 5225708 C G Haplotype 15165 RCV000016336 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 11828,7852084 germline OMIM:141900.0075 -11 5226597 C T Haplotype 15541 RCV000016807 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 -11 5226606 T C Haplotype 15098 RCV000016251 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 -11 5226612 A G Haplotype 15496 RCV000016758 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other 0 0 0 no assertion criteria provided 0 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 -11 5226614 T G Haplotype 15516 RCV000016780 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 -11 5226621 C T Haplotype 15610 RCV000016877 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 -11 5226633 C G Haplotype 15313 RCV000016553 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 -11 5226672 C T Haplotype 15127 RCV000016286 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409,5069596,5490239,5928902 germline OMIM:141900.0039;OMIM:141900.0040 -11 5226687 G A Haplotype 15612 RCV000016879 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470211,15470216 germline OMIM:141900.0523 -11 5226695 T A Haplotype 15581 RCV000016848 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 -11 5226716 G C Haplotype 15128 RCV000030905 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575,893143 germline OMIM:141900.0039;OMIM:141900.0040 -11 5226723 C G Haplotype 15313 RCV000016553 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 -11 5226735 C T Haplotype 15497 RCV000016759 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant Benign;Likely benign 0 1 0 no assertion criteria provided 0 OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988,15008267,16178917,18932067,2079433,5097135,640855 germline OMIM:141900.0408 -11 5226738 G A Haplotype 15497 RCV000016759 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988,15008267,16178917,18932067,2079433,5097135,640855 germline OMIM:141900.0408 -11 5226794 A T Haplotype 15541 RCV000016807 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 -11 5226943 C T Haplotype 15366 RCV000016617 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant Pathogenic;other;protective 1 0 0 no assertion criteria provided 0 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 -11 5226952 C T Haplotype 15334 RCV000016576 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492,3467311,9166865 germline OMIM:141900.0244 -11 5226988 C T Haplotype 15596 RCV000016863 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant other 0 0 0 no assertion criteria provided 0 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 -11 5226993 G T Haplotype 15591 RCV000016858 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other 0 0 0 no assertion criteria provided 0 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 -11 5227002 T A Haplotype 15127;15128;15334;15335;15336;15337;15610;15612 RCV000016286;RCV000030905;RCV000016576;RCV000016577;RCV000016579;RCV000016580;RCV000016877;RCV000016879 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic;other;protective 1 0 0 criteria provided, multiple submitters, no conflicts 2 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;19257,20942;15182055;15470211,15470216 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 -11 5227003 C T Haplotype 15098 RCV000016251 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant Pathogenic;protective 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 -11 5248393 G C Haplotype 15036 RCV000016180 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 -11 5248394 C A Haplotype 15041 RCV000016185 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 -11 5249456 G A Haplotype 15036;15041 RCV000016180;RCV000016185 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant Benign;other 0 1 0 no assertion criteria provided 0 OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (PORTO TORRES) 1714434;15666429 germline OMIM:142200.0032;OMIM:142200.0037 -11 6393898 A G CompoundHeterozygote 218155 RCV000214418 214803 SMPD1 NM_000543.4:c.1343A>G NP_000534.3:p.Tyr448Cys NM_000543.4:c.1343A>G:missense variant;NR_027400.2:n.1356A>G:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratorio de Medicina Genomica, Hospital General de Culiacan Niemann-Pick disease, type B;Niemann-Pick Disease, Type B 20301544,9918480 Autosomal recessive inheritance Childhood 1 in 248,000 (in combination with Niemann-Pick A);1-9 / 1 000 000 loss of function germline GeneReviews:NBK1370;Genetic Alliance:Niemann-Pick+Disease%2C+Type+B/5227;Genetic Testing Registry (GTR):GTR000051492;Genetic Testing Registry (GTR):GTR000245131;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000318940;Genetic Testing Registry (GTR):GTR000330870;Genetic Testing Registry (GTR):GTR000501745;Genetic Testing Registry (GTR):GTR000501749;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528634;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268243;OMIM:607616;Orphanet:77293;SNOMED CT:39390005 -11 6393981 C T CompoundHeterozygote 218155 RCV000214418 99222 SMPD1 NM_000543.4:c.1426C>T NP_000534.3:p.Arg476Trp NM_000543.4:c.1426C>T:missense variant;NR_027400.2:n.1439C>T:non-coding transcript variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 Laboratorio de Medicina Genomica, Hospital General de Culiacan Niemann-Pick disease, type B;Niemann-Pick Disease, Type B 20301544,9918480 Autosomal recessive inheritance Childhood 1 in 248,000 (in combination with Niemann-Pick A);1-9 / 1 000 000 loss of function germline GeneReviews:NBK1370;Genetic Alliance:Niemann-Pick+Disease%2C+Type+B/5227;Genetic Testing Registry (GTR):GTR000051492;Genetic Testing Registry (GTR):GTR000245131;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000318940;Genetic Testing Registry (GTR):GTR000330870;Genetic Testing Registry (GTR):GTR000501745;Genetic Testing Registry (GTR):GTR000501749;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528634;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268243;OMIM:607616;Orphanet:77293;SNOMED CT:39390005 -11 22218262 A G CompoundHeterozygote 216889 RCV000200720 194564 ANO5 NM_213599.2:c.155A>G NP_998764.1:p.Asn52Ser NM_213599.2:c.155A>G:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;Miyoshi muscular dystrophy 3;Limb-girdle muscular dystrophy, type 2L 20096397,20301582,21186264,22402862,25326637 Autosomal recessive inheritance Adult 2:100 000 in Finland, 0,26:100 000 in the North of England;<1 / 1 000 000 unknown GeneReviews:NBK1408;Genetic Alliance:Miyoshi+muscular+dystrophy+3/8905;Genetic Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2l/8929;Genetic Testing Registry (GTR):GTR000501777;Genetic Testing Registry (GTR):GTR000502395;Genetic Testing Registry (GTR):GTR000502449;Genetic Testing Registry (GTR):GTR000505573;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000521008;Genetic Testing Registry (GTR):GTR000521011;Genetics Home Reference:limb-girdle-muscular-dystrophy;Genetics Home Reference:miyoshi-myopathy;MedGen:C1969785;MedGen:C2750076;OMIM:611307;OMIM:613319;Orphanet:206549;Orphanet:399096 -11 22221100 C CA CompoundHeterozygote 216889 RCV000200720 17203 ANO5 NM_213599.2:c.191dupA NP_998764.1:p.Asn64Lysfs NM_213599.2:c.191dupA:frameshift variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;Miyoshi muscular dystrophy 3;Limb-girdle muscular dystrophy, type 2L 20096397,20301582,21186264,22402862,25326637 Autosomal recessive inheritance Adult 2:100 000 in Finland, 0,26:100 000 in the North of England;<1 / 1 000 000 unknown GeneReviews:NBK1408;Genetic Alliance:Miyoshi+muscular+dystrophy+3/8905;Genetic Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2l/8929;Genetic Testing Registry (GTR):GTR000501777;Genetic Testing Registry (GTR):GTR000502395;Genetic Testing Registry (GTR):GTR000502449;Genetic Testing Registry (GTR):GTR000505573;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000521008;Genetic Testing Registry (GTR):GTR000521011;Genetics Home Reference:limb-girdle-muscular-dystrophy;Genetics Home Reference:miyoshi-myopathy;MedGen:C1969785;MedGen:C2750076;OMIM:611307;OMIM:613319;Orphanet:206549;Orphanet:399096 -11 36574823 C T Haplotype 13157 RCV000014043 28196 RAG1 NM_000448.2:c.1519C>T NP_000439.1:p.Arg507Trp NM_000448.2:c.1519C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -11 36575514 G A Haplotype 13157 RCV000014043 28188 RAG1 NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His NM_000448.2:c.2210G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 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 -11 44107972 T G Haplotype 218894 RCV000203245 137950 EXT2 NM_000401.3:c.359T>G NP_997005.1:p.Met87Arg NM_207122.1:c.260T>G:missense variant Likely benign;not provided 0 1 0 criteria provided, single submitter 1 OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:CN234668;OMIM:616682 -11 44107995 C T Haplotype 218894 RCV000203245 215653 EXT2 NM_000401.3:c.382C>T NP_997005.1:p.Arg95Cys NM_207122.1:c.283C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:CN234668;OMIM:616682 -11 47441694 T C CompoundHeterozygote 216989 RCV000200529 213611 RAPSN NM_005055.4:c.829A>G NP_005046.2:p.Thr277Ala NM_005055.4:c.829A>G:missense variant;NM_032645.4:c.789+129A>G:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Pena-Shokeir syndrome type I;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I 20301347,25326637 Antenatal;Infancy 1-9 / 1 000 000 germline GeneReviews:NBK1168;Genetic Alliance:Myasthenic+syndrome%2C+congenital%2C+associated+with+acetylcholine+receptor+deficiency/5000;Genetic Alliance:Pena+Shokeir+syndrome%2C+type+1/5655;MedGen:C1276035;MedGen:C1837091;OMIM:208150;OMIM:608931;Office of Rare Diseases:10108;Office of Rare Diseases:9634;Orphanet:590;Orphanet:994;SNOMED CT:401138005 -11 47447819 T C CompoundHeterozygote 216989 RCV000200529 213612 RAPSN NM_005055.4:c.524A>G NP_005046.2:p.Gln175Arg NM_005055.4:c.524A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Pena-Shokeir syndrome type I;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I 20301347,25326637 Antenatal;Infancy 1-9 / 1 000 000 germline GeneReviews:NBK1168;Genetic Alliance:Myasthenic+syndrome%2C+congenital%2C+associated+with+acetylcholine+receptor+deficiency/5000;Genetic Alliance:Pena+Shokeir+syndrome%2C+type+1/5655;MedGen:C1276035;MedGen:C1837091;OMIM:208150;OMIM:608931;Office of Rare Diseases:10108;Office of Rare Diseases:9634;Orphanet:590;Orphanet:994;SNOMED CT:401138005 -11 57737988 A G CompoundHeterozygote 208953 RCV000201345 205471 TMX2-CTNND1 NM_015959.3:c.326A>G NP_057043.1:p.Asp109Gly NM_001144012.2:c.250+320A>G:intron variant;NM_015959.3:c.326A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -11 57739207 C T CompoundHeterozygote 208953 RCV000201345 205472 TMX2-CTNND1 NM_015959.3:c.691C>T NP_057043.1:p.Arg231Trp NM_015959.3:c.691C>T:missense variant;NR_037645.1:n.596C>T:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -11 66346080 G A Haplotype 51008 RCV000043695 65678 B4GAT1 NM_006876.2:c.1217C>T NP_006867.1:p.Ala406Val NM_006876.2:c.1217C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 Infancy <1 / 1 000 000 germline MedGen:C3809042;OMIM:615287;Orphanet:899 -11 66346129 T C Haplotype 51008 RCV000043695 65679 B4GAT1 NM_006876.2:c.1168A>G NP_006867.1:p.Asn390Asp NM_006876.2:c.1168A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 Infancy <1 / 1 000 000 germline MedGen:C3809042;OMIM:615287;Orphanet:899 -11 66851168 C A CompoundHeterozygote 221279 RCV000207120 222990 PC NM_022172.2:c.2095G>T NP_071504.2:p.Val699Leu NM_001040716.1:c.2095G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Pyruvate carboxylase deficiency 20301764 Infancy 1-9 / 1 000 000 germline GeneReviews:NBK6852;Genetic Alliance:Pyruvate+carboxylase+deficiency/6120;MedGen:C0034341;OMIM:266150;Office of Rare Diseases:7512;Orphanet:3008;SNOMED CT:87694001 -11 66851168 C T CompoundHeterozygote 221279 RCV000207120 222991 PC NM_022172.2:c.2095G>A NP_071504.2:p.Val699Met NM_001040716.1:c.2095G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Pyruvate carboxylase deficiency 20301764 Infancy 1-9 / 1 000 000 germline GeneReviews:NBK6852;Genetic Alliance:Pyruvate+carboxylase+deficiency/6120;MedGen:C0034341;OMIM:266150;Office of Rare Diseases:7512;Orphanet:3008;SNOMED CT:87694001 -11 67482889 CG AA CompoundHeterozygote 41218 RCV000034117 49641 AIP NM_001302959.1:c.-900_-899delCGinsAA NM_001302959.1:c.-900_-899delCGinsAA:2KB upstream variant;NM_003977.3:c.-125-145_-125-144delCGinsAA:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Somatotroph adenoma;AIP-Related Familial Isolated Pituitary Adenomas 22720333 1-9 / 1 000 000 not provided GeneReviews:NBK97965;Genetic Alliance:Pituitary+adenoma%2C+growth+hormone-secreting/9117;MedGen:C0346302;OMIM:102200;OMIM:605555.0001;OMIM:605555.0002;OMIM:605555.0003;OMIM:605555.0004;OMIM:605555.0005;OMIM:605555.0006;OMIM:605555.0009;Orphanet:963;SNOMED CT:254957009 -11 67482939 G A CompoundHeterozygote 41218 RCV000034117 49640 AIP NM_001302959.1:c.-850G>A NM_001302959.1:c.-850G>A:2KB upstream variant;NM_003977.3:c.-125-95G>A:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Somatotroph adenoma;AIP-Related Familial Isolated Pituitary Adenomas 22720333 1-9 / 1 000 000 not provided GeneReviews:NBK97965;Genetic Alliance:Pituitary+adenoma%2C+growth+hormone-secreting/9117;MedGen:C0346302;OMIM:102200;OMIM:605555.0001;OMIM:605555.0002;OMIM:605555.0003;OMIM:605555.0004;OMIM:605555.0005;OMIM:605555.0006;OMIM:605555.0009;Orphanet:963;SNOMED CT:254957009 -11 67490878 AG GT CompoundHeterozygote 41219 RCV000034118 49643 AIP NM_003977.3:c.878_879delAGinsGT NP_003968.3:p.Glu293Gly NM_001302960.1:c.*18_*19delAGinsGT:3 prime UTR variant;NM_003977.3:c.878_879delAGinsGT:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Somatotroph adenoma;AIP-Related Familial Isolated Pituitary Adenomas 22720333 1-9 / 1 000 000 not provided GeneReviews:NBK97965;Genetic Alliance:Pituitary+adenoma%2C+growth+hormone-secreting/9117;MedGen:C0346302;OMIM:102200;OMIM:605555.0001;OMIM:605555.0002;OMIM:605555.0003;OMIM:605555.0004;OMIM:605555.0005;OMIM:605555.0006;OMIM:605555.0009;Orphanet:963;SNOMED CT:254957009 -11 67490879 GCTGGACCCAGCC G CompoundHeterozygote 41219 RCV000034118 49642 AIP NM_003977.3:c.880_891delCTGGACCCAGCC NP_003968.3:p.Asp295_Leu298del NM_001302960.1:c.*20_*31delCTGGACCCAGCC:3 prime UTR variant;NM_003977.3:c.880_891delCTGGACCCAGCC:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Somatotroph adenoma;AIP-Related Familial Isolated Pituitary Adenomas 22720333 1-9 / 1 000 000 not provided GeneReviews:NBK97965;Genetic Alliance:Pituitary+adenoma%2C+growth+hormone-secreting/9117;MedGen:C0346302;OMIM:102200;OMIM:605555.0001;OMIM:605555.0002;OMIM:605555.0003;OMIM:605555.0004;OMIM:605555.0005;OMIM:605555.0006;OMIM:605555.0009;Orphanet:963;SNOMED CT:254957009 -11 68906074 G A CompoundHeterozygote 216943 RCV000195889 213614 IGHMBP2 NM_002180.2:c.92G>A NP_002171.2:p.Trp31Ter NM_002180.2:c.92G>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy with respiratory distress 1 17761659,25326637 Infancy germline Genetics Home Reference:spinal-muscular-atrophy-with-respiratory-distress-type-1;MedGen:C1858517;OMIM:604320;Office of Rare Diseases:8592;Orphanet:98920 -11 68911552 A C CompoundHeterozygote 216943 RCV000195889 213615 IGHMBP2 NM_002180.2:c.660A>C NP_002171.2:p.Lys220Asn NM_002180.2:c.660A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy with respiratory distress 1 17761659,25326637 Infancy germline Genetics Home Reference:spinal-muscular-atrophy-with-respiratory-distress-type-1;MedGen:C1858517;OMIM:604320;Office of Rare Diseases:8592;Orphanet:98920 -11 70203505 TCGAGCAG T CompoundHeterozygote 216928 RCV000195419 213616 FADD NM_003824.3:c.52_58delAGCGAGC NP_003815.1:p.Ser18Terfs NM_003824.3:c.52_58delAGCGAGC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations;Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 25326637 Infancy <1 / 1 000 000 germline Genetic Alliance:Infections%2C+recurrent%2C+with+encephalopathy%2C+hepatic+dysfunction%2C+and+cardiovascular+malformations/8662;MedGen:C3151062;OMIM:613759;Orphanet:306550 -11 70206159 T C CompoundHeterozygote 216928 RCV000195419 213617 FADD NM_003824.3:c.313T>C NP_003815.1:p.Cys105Arg NM_003824.3:c.313T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations;Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 25326637 Infancy <1 / 1 000 000 germline Genetic Alliance:Infections%2C+recurrent%2C+with+encephalopathy%2C+hepatic+dysfunction%2C+and+cardiovascular+malformations/8662;MedGen:C3151062;OMIM:613759;Orphanet:306550 -11 72225013 C CG Haplotype 235823 RCV000224773 237478 INPPL1 NM_001567.3:c.35dupG NP_001558.3:p.Ala13Argfs NM_001567.3:c.35dupG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 -11 72229558 G C Haplotype 235822 RCV000224420 237479 INPPL1 NM_001567.3:c.753G>C NP_001558.3:p.Gln251His NM_001567.3:c.753G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 -11 72229676 CAG C Haplotype 235825 RCV000224914 237480 INPPL1 NM_001567.3:c.768_769delAG NP_001558.3:p.Glu258Alafs NM_001567.3:c.768_769delAG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 -11 72232303 GTCACC G Haplotype 235823 RCV000224773 237481 INPPL1 NM_001567.3:c.1687_1691delACCTC NP_001558.3:p.Thr563Glyfs NM_001567.3:c.1687_1691delACCTC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 -11 72234616 G A Haplotype 235825 RCV000224914 48075 INPPL1 NM_001567.3:c.2415+1G>A NM_001567.3:c.2415+1G>A:splice donor variant Pathogenic 1 0 0 no assertion criteria provided 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 -11 77142719 T C CompoundHeterozygote 236052 RCV000225048 237612 MYO7A NM_000260.3:c.29T>C NP_000251.3:p.Val10Ala NM_000260.3:c.29T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 2 Infancy germline Genetic Alliance:Deafness%2C+autosomal+recessive+2/8161;MedGen:C1838701;OMIM:600060;Orphanet:90636 -11 77174789 C T CompoundHeterozygote 236052 RCV000225048 237614 MYO7A NM_000260.3:c.1969C>T NP_000251.3:p.Arg657Trp NM_000260.3:c.1969C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 2 Infancy germline Genetic Alliance:Deafness%2C+autosomal+recessive+2/8161;MedGen:C1838701;OMIM:600060;Orphanet:90636 -11 89178092 G A CompoundHeterozygote 190216 RCV000186573 188043 TYR NM_000372.4:c.139G>A NP_000363.1:p.Gly47Ser NM_000372.4:c.139G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Science and Research Branch, Islamic Azad University,Islamic Azad University Tyrosinase-negative oculocutaneous albinism;OCA1A 20301345,26167114 Autosomal recessive inheritance Infancy;Neonatal/infancy 1-9 / 100 000 loss of function paternal GeneReviews:NBK1166;Genetic Alliance:Oculocutaneous+Albinism+Type+1A/9639;Genetic Testing Registry (GTR):GTR000520184;MedGen:C0268494;OMIM:203100;OMIM:606933.0002;Office of Rare Diseases:4037;Orphanet:352731;Orphanet:79431;Orphanet:ORPHA79431;SNOMED CT:6483008 -11 89284862 ACATGGTT A CompoundHeterozygote 190216 RCV000186573 188045 TYR NM_000372.4:c.1276_1282delATGGTTC NP_000363.1:p.Met426Leufs NM_000372.4:c.1276_1282delATGGTTC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Science and Research Branch, Islamic Azad University,Islamic Azad University Tyrosinase-negative oculocutaneous albinism;OCA1A 20301345,26167114 Autosomal recessive inheritance Infancy;Neonatal/infancy 1-9 / 100 000 loss of function paternal GeneReviews:NBK1166;Genetic Alliance:Oculocutaneous+Albinism+Type+1A/9639;Genetic Testing Registry (GTR):GTR000520184;MedGen:C0268494;OMIM:203100;OMIM:606933.0002;Office of Rare Diseases:4037;Orphanet:352731;Orphanet:79431;Orphanet:ORPHA79431;SNOMED CT:6483008 -11 94478782 G A CompoundHeterozygote 216964 RCV000199534 151922 MRE11 NM_005591.3:c.497C>T NP_005582.1:p.Pro166Leu NM_005591.3:c.497C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Ataxia-telangiectasia-like disorder 1;Ataxia-telangiectasia-like disorder 20050888,25326637 Infancy unknown Genetic Alliance:Early-Onset+Ataxia+with+Oculomotor+Apraxia+and+Hypoalbuminemia/2429;MedGen:C1858391;OMIM:604391;Orphanet:251347 -11 94486070 C A CompoundHeterozygote 216964 RCV000199534 213618 MRE11 NM_005591.3:c.168G>T NP_005582.1:p.Leu56Phe NM_005591.3:c.168G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Ataxia-telangiectasia-like disorder 1;Ataxia-telangiectasia-like disorder 20050888,25326637 Infancy unknown Genetic Alliance:Early-Onset+Ataxia+with+Oculomotor+Apraxia+and+Hypoalbuminemia/2429;MedGen:C1858391;OMIM:604391;Orphanet:251347 -11 108243952 G A CompoundHeterozygote 375243 RCV000416302 361945 ATM NM_000051.3:c.497-1G>A NM_000051.3:c.497-1G>A:splice acceptor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Manipal Health Enterprises Pvt Ltd, Manipal Hospital Ataxia-telangiectasia syndrome 20050888,20301317,20301790,24418350,27884168 Autosomal recessive inheritance Childhood 1-5 / 10 000 germline Genetic Alliance:Ataxia+Telangiectasia/637;Genetic Testing Registry (GTR):GTR000254953;Genetic Testing Registry (GTR):GTR000309211;Genetic Testing Registry (GTR):GTR000330581;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000507905;Genetic Testing Registry (GTR):GTR000509515;Genetic Testing Registry (GTR):GTR000511094;Genetic Testing Registry (GTR):GTR000512439;Genetic Testing Registry (GTR):GTR000515733;Genetic Testing Registry (GTR):GTR000519349;Genetic Testing Registry (GTR):GTR000519350;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520393;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000522278;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0004135;OMIM:208900;OMIM:607585.0001;OMIM:607585.0014;Office of Rare Diseases:5862;Orphanet:100;SNOMED CT:68504005 -11 108250699 A T CompoundHeterozygote 375243 RCV000416302 361947 ATM NM_000051.3:c.1236-2A>T NM_000051.3:c.1236-2A>T:splice acceptor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Manipal Health Enterprises Pvt Ltd, Manipal Hospital Ataxia-telangiectasia syndrome 20050888,20301317,20301790,24418350,27884168 Autosomal recessive inheritance Childhood 1-5 / 10 000 germline Genetic Alliance:Ataxia+Telangiectasia/637;Genetic Testing Registry (GTR):GTR000254953;Genetic Testing Registry (GTR):GTR000309211;Genetic Testing Registry (GTR):GTR000330581;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000507905;Genetic Testing Registry (GTR):GTR000509515;Genetic Testing Registry (GTR):GTR000511094;Genetic Testing Registry (GTR):GTR000512439;Genetic Testing Registry (GTR):GTR000515733;Genetic Testing Registry (GTR):GTR000519349;Genetic Testing Registry (GTR):GTR000519350;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520393;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000522278;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0004135;OMIM:208900;OMIM:607585.0001;OMIM:607585.0014;Office of Rare Diseases:5862;Orphanet:100;SNOMED CT:68504005 -11 121166652 C T Haplotype 7013 RCV000007428 22052 TECTA NM_005422.2:c.5458C>T NP_005413.2:p.Leu1820Phe NM_005422.2:c.5458C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607,9590290 Childhood germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 -11 121166665 G A Haplotype 7013 RCV000007428 38440 TECTA NM_005422.2:c.5471G>A NP_005413.2:p.Gly1824Asp NM_005422.2:c.5471G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607,9590290 Childhood germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 -11 123083826 C T CompoundHeterozygote 243098 RCV000236950 244180 CLMP NM_024769.3:c.410G>A NP_079045.1:p.Cys137Tyr NM_024769.3:c.410G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Clinical Genetics, Erasmus University Medical Center Congenital short bowel syndrome 27352967 Infancy <1 / 1 000 000 not applicable;unknown MedGen:C0021847;OMIM:615237;Orphanet:2301 -11 123097954 T C CompoundHeterozygote 243098 RCV000236950 244181 CLMP NM_024769.3:c.29-2A>G NM_024769.3:c.29-2A>G:splice acceptor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Clinical Genetics, Erasmus University Medical Center Congenital short bowel syndrome 27352967 Infancy <1 / 1 000 000 not applicable;unknown MedGen:C0021847;OMIM:615237;Orphanet:2301 -12 9157811 C T CompoundHeterozygote 207839 RCV000190132 204141 PZP NM_002864.2:c.3325G>A NP_002855.2:p.Ala1109Thr NM_002864.2:c.3325G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Medical Research Institute,Tokyo Medical and Dental University Long QT syndrome;Long QT syndrome 23994779,26132555 Autosomal dominant inheritance loss of function germline Genetic Alliance:Long+QT+Syndrome/4296;Genetic Testing Registry (GTR):GTR000323823;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500471;Genetic Testing Registry (GTR):GTR000500681;Genetic Testing Registry (GTR):GTR000501111;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000511116;Genetic Testing Registry (GTR):GTR000515873;Genetic Testing Registry (GTR):GTR000519089;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519380;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000519389;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520446;Genetic Testing Registry (GTR):GTR000520456;Genetic Testing Registry (GTR):GTR000520458;Genetic Testing Registry (GTR):GTR000520478;Genetic Testing Registry (GTR):GTR000522197;Genetic Testing Registry (GTR):GTR000522200;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000528336;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000552174;Genetic Testing Registry (GTR):GTR000552322;MeSH:D008133;MedGen:C0023976;OMIM:PS192500;SNOMED CT:9651007 -12 9192235 C T CompoundHeterozygote 207839 RCV000190132 204142 PZP NM_002864.2:c.1504G>A NP_002855.2:p.Val502Ile NM_002864.2:c.1504G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Medical Research Institute,Tokyo Medical and Dental University Long QT syndrome;Long QT syndrome 23994779,26132555 Autosomal dominant inheritance loss of function germline Genetic Alliance:Long+QT+Syndrome/4296;Genetic Testing Registry (GTR):GTR000323823;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500471;Genetic Testing Registry (GTR):GTR000500681;Genetic Testing Registry (GTR):GTR000501111;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000511116;Genetic Testing Registry (GTR):GTR000515873;Genetic Testing Registry (GTR):GTR000519089;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519380;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000519389;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520446;Genetic Testing Registry (GTR):GTR000520456;Genetic Testing Registry (GTR):GTR000520458;Genetic Testing Registry (GTR):GTR000520478;Genetic Testing Registry (GTR):GTR000522197;Genetic Testing Registry (GTR):GTR000522200;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000528336;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000552174;Genetic Testing Registry (GTR):GTR000552322;MeSH:D008133;MedGen:C0023976;OMIM:PS192500;SNOMED CT:9651007 -12 55692948 G A CompoundHeterozygote 224686 RCV000230617 226475 ITGA7 NM_001144996.1:c.2752C>T NP_001138468.1:p.Arg918Trp NM_002206.2:c.2740C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center not specified;Limb-girdle muscular dystrophy;not specified 27854218 unknown MedGen:CN169374 -12 55698580 T C CompoundHeterozygote 224686 RCV000230617 195639 ITGA7 NM_002206.2:c.999-4A>G NM_002206.2:c.999-4A>G:intron variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Center for Genetic Medicine Research,Children's National Medical Center not specified;Limb-girdle muscular dystrophy;not specified 27854218 unknown MedGen:CN169374 -12 57498563 A G CompoundHeterozygote 189366 RCV000169767 187251 MARS NM_004990.3:c.1031A>G NP_004981.2:p.Tyr344Cys NM_004990.3:c.1031A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health Pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis germline MedGen:C0034050;SNOMED CT:10501004 -12 57500406 G A CompoundHeterozygote;Haplotype 189366;189364 RCV000169767;RCV000169765;RCV000173000 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health;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 -12 57512300 C T CompoundHeterozygote;Haplotype 189366;189364 RCV000169767;RCV000169765;RCV000173000 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health;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 -12 57763666 C T CompoundHeterozygote 267264 RCV000258015 262266 CYP27B1 NM_000785.3:c.1358G>A NP_000776.1:p.Arg453His NM_000785.3:c.1358G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Vitamin D-dependent rickets, type 1 25741868 Infancy 1-5 / 10 000 inherited Genetic Alliance:Vitamin+D-dependent+rickets%2C+type+1/9453;MedGen:C0268689;OMIM:264700;OMIM:609506.0001;OMIM:609506.0002;OMIM:609506.0003;OMIM:609506.0004;OMIM:609506.0005;OMIM:609506.0006;OMIM:609506.0007;OMIM:609506.0008;OMIM:609506.0009;OMIM:609506.0010;OMIM:609506.0011;OMIM:609506.0012;OMIM:609506.0013;OMIM:609506.0014;OMIM:609506.0015;OMIM:609506.0016;OMIM:609506.0017;Orphanet:289157;SNOMED CT:67049004 -12 57763698 T TGGGTGGG CompoundHeterozygote 267264 RCV000258015 264701 CYP27B1 NM_000785.3:c.1319_1325dupCCCACCC NP_000776.1:p.Phe443Profs NM_000785.3:c.1319_1325dupCCCACCC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Vitamin D-dependent rickets, type 1 25741868 Infancy 1-5 / 10 000 inherited Genetic Alliance:Vitamin+D-dependent+rickets%2C+type+1/9453;MedGen:C0268689;OMIM:264700;OMIM:609506.0001;OMIM:609506.0002;OMIM:609506.0003;OMIM:609506.0004;OMIM:609506.0005;OMIM:609506.0006;OMIM:609506.0007;OMIM:609506.0008;OMIM:609506.0009;OMIM:609506.0010;OMIM:609506.0011;OMIM:609506.0012;OMIM:609506.0013;OMIM:609506.0014;OMIM:609506.0015;OMIM:609506.0016;OMIM:609506.0017;Orphanet:289157;SNOMED CT:67049004 -12 57786286 G C CompoundHeterozygote 217020 RCV000199000 213623 TSFM NM_001172697.1:c.355G>C NP_001166168.1:p.Val119Leu NM_001172697.1:c.355G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Combined oxidative phosphorylation deficiency 3;Combined oxidative phosphorylation deficiency 3 25326637 Autosomal recessive inheritance Infancy <1 / 1 000 000 germline Genetic Alliance:Combined+oxidative+phosphorylation+deficiency+3/8015;Genetic Testing Registry (GTR):GTR000335907;MedGen:C1864840;OMIM:610505;Orphanet:168566 -12 57796539 C T CompoundHeterozygote 217020 RCV000199000 20418 TSFM NM_001172696.1:c.997C>T NP_001166167.1:p.Arg333Trp NM_001172695.1:c.*342C>T:3 prime UTR variant;NM_001172696.1:c.997C>T:missense variant;NM_001172697.1:c.571+3466C>T:intron variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA Combined oxidative phosphorylation deficiency 3;Combined oxidative phosphorylation deficiency 3 25326637 Autosomal recessive inheritance Infancy <1 / 1 000 000 germline Genetic Alliance:Combined+oxidative+phosphorylation+deficiency+3/8015;Genetic Testing Registry (GTR):GTR000335907;MedGen:C1864840;OMIM:610505;Orphanet:168566 -12 80358880 A G Haplotype 229122 RCV000217831 230419 OTOGL NM_173591.3:c.6220A>G NP_775862.3:p.Ile2074Val NM_173591.3:c.6220A>G:missense variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -12 80358881 T C Haplotype 229122 RCV000217831 230420 OTOGL NM_173591.3:c.6221T>C NP_775862.3:p.Ile2074Thr NM_173591.3:c.6221T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -12 101757254 G A Haplotype 39094 RCV000032361 47698 GNPTAB NM_024312.4:c.3392C>T NP_077288.2:p.Ser1131Phe NM_024312.4:c.3392C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 -12 101757256 A AG Haplotype 39094 RCV000032361 47699 GNPTAB NM_024312.4:c.3388_3389insC NP_077288.2:p.Val1130Alafs NM_024312.4:c.3388_3389insC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 -12 101761615 G A Haplotype 39093 RCV000032360 47696 GNPTAB NM_024312.4:c.2864C>T NP_077288.2:p.Ala955Val NM_024312.4:c.2864C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 -12 101761696 T C Haplotype 39093 RCV000032360 47697 GNPTAB NM_024312.4:c.2783A>G NP_077288.2:p.Lys928Arg NM_024312.4:c.2783A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 -12 101780579 T G Haplotype 39095 RCV000032362 47700 GNPTAB NM_024312.4:c.614A>C NP_077288.2:p.Gln205Pro NM_024312.4:c.614A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 -12 101786038 A T Haplotype 39095 RCV000032362 47701 GNPTAB NM_024312.4:c.545T>A NP_077288.2:p.Val182Asp NM_024312.4:c.545T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 -12 102852903 G A Haplotype 217885 RCV000201954 15623 PAH NM_000277.1:c.754C>T NP_000268.1:p.Arg252Trp NM_000277.1:c.754C>T:missense variant Likely pathogenic;Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 Mendelics Analise Genomica Phenylketonuria 20301677,21915151,24385074,24667081,2574153,9429153 Autosomal recessive inheritance 1-9 / 100 000 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000271419;Genetic Testing Registry (GTR):GTR000311734;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000501645;Genetic Testing Registry (GTR):GTR000501648;Genetic Testing Registry (GTR):GTR000502151;Genetic Testing Registry (GTR):GTR000502914;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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 -12 102878057 C A Haplotype 217885 RCV000201954 214540 PAH NM_000277.1:c.353-507G>T NM_000277.1:c.353-507G>T:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Phenylketonuria 20301677,21915151,24385074,24667081,2574153,9429153 Autosomal recessive inheritance 1-9 / 100 000 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000271419;Genetic Testing Registry (GTR):GTR000311734;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000501645;Genetic Testing Registry (GTR):GTR000501648;Genetic Testing Registry (GTR):GTR000502151;Genetic Testing Registry (GTR):GTR000502914;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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 -12 106432421 T A CompoundHeterozygote 216985;375245 RCV000199616;RCV000416290 40123 POLR3B NM_018082.5:c.1568T>A NP_060552.4:p.Val523Glu NM_018082.5:c.1568T>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA;Biochimie-Hormonologie,Robert Debre Hospital Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Endosteal sclerosis-cerebellar hypoplasia syndrome 22855961,25326637 Autosomal recessive inheritance Adolescent <1 / 1 000 000 germline GeneReviews:NBK99167;Genetic Testing Registry (GTR):GTR000500812;Genetic Testing Registry (GTR):GTR000512712;MedGen:C3280644;OMIM:614366.0005;OMIM:614366.0006;OMIM:614366.0007;OMIM:614366.0008;OMIM:614381;Orphanet:88637;Human Phenotype Ontology:HP:0000007;Human Phenotype Ontology:HP:0000677;Human Phenotype Ontology:HP:0001251;Human Phenotype Ontology:HP:0001321;Human Phenotype Ontology:HP:0004322;MedGen:CN240354;Orphanet:ORPHA85186 -12 106444495 C T CompoundHeterozygote 216985 RCV000199616 213619 POLR3B NM_018082.5:c.1988C>T NP_060552.4:p.Thr663Ile NM_018082.5:c.1988C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 22855961,25326637 Autosomal recessive inheritance Adolescent <1 / 1 000 000 germline GeneReviews:NBK99167;Genetic Testing Registry (GTR):GTR000500812;Genetic Testing Registry (GTR):GTR000512712;MedGen:C3280644;OMIM:614366.0005;OMIM:614366.0006;OMIM:614366.0007;OMIM:614366.0008;OMIM:614381;Orphanet:88637 -12 106496115 C T CompoundHeterozygote 375245 RCV000416290 361949 POLR3B NM_018082.5:c.2774C>T NP_060552.4:p.Pro925Leu NM_018082.5:c.2774C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Biochimie-Hormonologie,Robert Debre Hospital Endosteal sclerosis-cerebellar hypoplasia syndrome germline Human Phenotype Ontology:HP:0000007;Human Phenotype Ontology:HP:0000677;Human Phenotype Ontology:HP:0001251;Human Phenotype Ontology:HP:0001321;Human Phenotype Ontology:HP:0004322;MedGen:CN240354;Orphanet:ORPHA85186 -12 109483552 A G CompoundHeterozygote 156589 RCV000149398 166442 UBE3B NM_130466.3:c.1A>G NP_569733.2:p.Met1Val NM_130466.3:c.1A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Department of Medical Genetics,Oslo University Hospital Kaufman oculocerebrofacial syndrome;Congenital defects;craniofacial dysmorphism;severe psychomotor delay;Kaufman oculocerebrofacial syndrome Childhood <1 / 1 000 000 germline GeneTests:320519;Genetic Alliance:Kaufman+oculocerebrofacial+syndrome/3962;Genetics Home Reference:kaufman-oculocerebrofacial-syndrome;MedGen:C1855663;OMIM:244450;Office of Rare Diseases:3084;Orphanet:2707 -12 109510374 TC T CompoundHeterozygote 156589 RCV000149398 166443 UBE3B NM_130466.3:c.1773delC NP_569733.2:p.Gln592Serfs NM_130466.3:c.1773delC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Department of Medical Genetics,Oslo University Hospital Kaufman oculocerebrofacial syndrome;Congenital defects;craniofacial dysmorphism;severe psychomotor delay;Kaufman oculocerebrofacial syndrome Childhood <1 / 1 000 000 germline GeneTests:320519;Genetic Alliance:Kaufman+oculocerebrofacial+syndrome/3962;Genetics Home Reference:kaufman-oculocerebrofacial-syndrome;MedGen:C1855663;OMIM:244450;Office of Rare Diseases:3084;Orphanet:2707 -13 20189174 G T Haplotype 267367 RCV000258130 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Likely pathogenic 1 0 0 criteria provided, single submitter 1 OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1,12560944,15633193,20301449,20301607,20497192,24785414 Autosomal recessive inheritance Infancy Congenital deafness affects 1 in 1,000 births;Congenital deafness affects 1 in 1,000 births.;DFNB1 accounts for approximately 50% of congenital, severe-to-profound, autosomal recessive nonsyndromic hearing loss in the United States, France, Britain, and New Zealand/Australia [Denoyelle et al 1997, Green et al 1999]. Its approximate prevalence in the general population is 14:100,000, based on the following calculation: the incidence of congenital hereditary hearing impairment is 1:2000 neonates, of which 70% have nonsyndromic hearing loss. Seventy-five to 80% of cases of nonsyndromic hearing loss are autosomal recessive: of these, 50% result from GJB2 mutations. Thus, 5:10,000 x 0.7 x 0.8 x 0.5 = 14:100,000. germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;Genetic Testing Registry (GTR):GTR000056463;Genetic Testing Registry (GTR):GTR000073172;Genetic Testing Registry (GTR):GTR000091949;Genetic Testing Registry (GTR):GTR000091951;Genetic Testing Registry (GTR):GTR000256512;Genetic Testing Registry (GTR):GTR000323135;Genetic Testing Registry (GTR):GTR000323596;Genetic Testing Registry (GTR):GTR000326557;Genetic Testing Registry (GTR):GTR000335368;Genetic Testing Registry (GTR):GTR000500213;Genetic Testing Registry (GTR):GTR000501122;Genetic Testing Registry (GTR):GTR000501789;Genetic Testing Registry (GTR):GTR000501790;Genetic Testing Registry (GTR):GTR000501845;Genetic Testing Registry (GTR):GTR000502361;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000510415;Genetic Testing Registry (GTR):GTR000512701;Genetic Testing Registry (GTR):GTR000519426;Genetic Testing Registry (GTR):GTR000529595;Genetic Testing Registry (GTR):GTR000552033;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 -13 20189241 T C Haplotype 177819 RCV000154452 53906 GJB2 NM_004004.5:c.341A>G NP_003995.2:p.Glu114Gly NM_004004.5:c.341A>G:missense variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 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 -13 20189448 C T Haplotype 267367 RCV000258130 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1,12560944,15633193,20301449,20301607,20497192,24785414 Autosomal recessive inheritance Infancy Congenital deafness affects 1 in 1,000 births;Congenital deafness affects 1 in 1,000 births.;DFNB1 accounts for approximately 50% of congenital, severe-to-profound, autosomal recessive nonsyndromic hearing loss in the United States, France, Britain, and New Zealand/Australia [Denoyelle et al 1997, Green et al 1999]. Its approximate prevalence in the general population is 14:100,000, based on the following calculation: the incidence of congenital hereditary hearing impairment is 1:2000 neonates, of which 70% have nonsyndromic hearing loss. Seventy-five to 80% of cases of nonsyndromic hearing loss are autosomal recessive: of these, 50% result from GJB2 mutations. Thus, 5:10,000 x 0.7 x 0.8 x 0.5 = 14:100,000. germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;Genetic Testing Registry (GTR):GTR000056463;Genetic Testing Registry (GTR):GTR000073172;Genetic Testing Registry (GTR):GTR000091949;Genetic Testing Registry (GTR):GTR000091951;Genetic Testing Registry (GTR):GTR000256512;Genetic Testing Registry (GTR):GTR000323135;Genetic Testing Registry (GTR):GTR000323596;Genetic Testing Registry (GTR):GTR000326557;Genetic Testing Registry (GTR):GTR000335368;Genetic Testing Registry (GTR):GTR000500213;Genetic Testing Registry (GTR):GTR000501122;Genetic Testing Registry (GTR):GTR000501789;Genetic Testing Registry (GTR):GTR000501790;Genetic Testing Registry (GTR):GTR000501845;Genetic Testing Registry (GTR):GTR000502361;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000510415;Genetic Testing Registry (GTR):GTR000512701;Genetic Testing Registry (GTR):GTR000519426;Genetic Testing Registry (GTR):GTR000529595;Genetic Testing Registry (GTR):GTR000552033;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 -13 20189503 C T Haplotype 177819 RCV000154452 44943 GJB2 NM_004004.5:c.79G>A NP_003995.2:p.Val27Ile NM_004004.5:c.79G>A:missense variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 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 -13 23332252 C T CompoundHeterozygote 216995 RCV000197883 213625 SACS NM_014363.5:c.11624G>A NP_055178.3:p.Arg3875His NM_014363.5:c.11624G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spastic ataxia Charlevoix-Saguenay type;Spastic ataxia Charlevoix-Saguenay type 20301432,24418350,25326637 Autosomal recessive inheritance Childhood unknown GeneReviews:NBK1255;Genetic Alliance:Spastic+ataxia+Charlevoix-Saguenay+type/6671;Genetic Testing Registry (GTR):GTR000552033;MedGen:C1849140;OMIM:270550;Office of Rare Diseases:4910;Orphanet:98 -13 23336600 G A CompoundHeterozygote 216995 RCV000197883 186869 SACS NM_014363.5:c.7276C>T NP_055178.3:p.Arg2426Ter NM_014363.5:c.7276C>T:nonsense Likely pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Spastic ataxia Charlevoix-Saguenay type;Spastic ataxia Charlevoix-Saguenay type 20301432,24418350,25326637 Autosomal recessive inheritance Childhood unknown GeneReviews:NBK1255;Genetic Alliance:Spastic+ataxia+Charlevoix-Saguenay+type/6671;Genetic Testing Registry (GTR):GTR000552033;MedGen:C1849140;OMIM:270550;Office of Rare Diseases:4910;Orphanet:98 -13 51937570 T C CompoundHeterozygote 216892 RCV000196058 18898 ATP7B NM_000053.3:c.3809A>G NP_000044.2:p.Asn1270Ser NM_000053.3:c.3809A>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Wilson disease;Wilson's disease 18506894,20301685,20482602,25326637,27854360 Autosomal recessive inheritance Childhood 1-9 / 100 000;Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. loss of function unknown GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000295690;Genetic Testing Registry (GTR):GTR000313617;Genetic Testing Registry (GTR):GTR000327805;Genetic Testing Registry (GTR):GTR000500144;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):GTR000552033;Genetic Testing Registry (GTR):GTR000552345;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 -13 51941111 C T Haplotype 3863 RCV000004067 38430 ATP7B NM_000053.3:c.3526G>A NP_000044.2:p.Gly1176Arg NM_000053.3:c.3526G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Wilson disease;WILSON DISEASE 15845031,18506894,20301685,20482602,27854360 Autosomal recessive inheritance Childhood 1-9 / 100 000;Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000295690;Genetic Testing Registry (GTR):GTR000313617;Genetic Testing Registry (GTR):GTR000327805;Genetic Testing Registry (GTR):GTR000500144;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):GTR000552033;Genetic Testing Registry (GTR):GTR000552345;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 -13 51941194 A G Haplotype 3863 RCV000004067 18902 ATP7B NM_000053.3:c.3443T>C NP_000044.2:p.Ile1148Thr NM_000053.3:c.3443T>C:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM Wilson disease;WILSON DISEASE 15845031,18506894,20301685,20482602,27854360 Autosomal recessive inheritance Childhood 1-9 / 100 000;Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000295690;Genetic Testing Registry (GTR):GTR000313617;Genetic Testing Registry (GTR):GTR000327805;Genetic Testing Registry (GTR):GTR000500144;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):GTR000552033;Genetic Testing Registry (GTR):GTR000552345;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 -13 51946394 G C CompoundHeterozygote 216892 RCV000196058 213626 ATP7B NM_000053.3:c.2950C>G NP_000044.2:p.Pro984Ala NM_000053.3:c.2950C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Wilson disease;Wilson's disease 18506894,20301685,20482602,25326637,27854360 Autosomal recessive inheritance Childhood 1-9 / 100 000;Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. loss of function unknown GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000295690;Genetic Testing Registry (GTR):GTR000313617;Genetic Testing Registry (GTR):GTR000327805;Genetic Testing Registry (GTR):GTR000500144;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):GTR000552033;Genetic Testing Registry (GTR):GTR000552345;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 -13 102741045 T C CompoundHeterozygote 207840 RCV000190133 204143 CCDC168 NM_001146197.1:c.9652A>G NP_001139669.1:p.Met3218Val NM_001146197.1:c.9652A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Medical Research Institute,Tokyo Medical and Dental University Long QT syndrome;Long QT syndrome 23994779,26132555 Autosomal dominant inheritance loss of function germline Genetic Alliance:Long+QT+Syndrome/4296;Genetic Testing Registry (GTR):GTR000323823;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500471;Genetic Testing Registry (GTR):GTR000500681;Genetic Testing Registry (GTR):GTR000501111;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000511116;Genetic Testing Registry (GTR):GTR000515873;Genetic Testing Registry (GTR):GTR000519089;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519380;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000519389;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520446;Genetic Testing Registry (GTR):GTR000520456;Genetic Testing Registry (GTR):GTR000520458;Genetic Testing Registry (GTR):GTR000520478;Genetic Testing Registry (GTR):GTR000522197;Genetic Testing Registry (GTR):GTR000522200;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000528336;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000552174;Genetic Testing Registry (GTR):GTR000552322;MeSH:D008133;MedGen:C0023976;OMIM:PS192500;SNOMED CT:9651007 -13 102746859 C T CompoundHeterozygote 207840 RCV000190133 204144 CCDC168 NM_001146197.1:c.3838G>A NP_001139669.1:p.Glu1280Lys NM_001146197.1:c.3838G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Medical Research Institute,Tokyo Medical and Dental University Long QT syndrome;Long QT syndrome 23994779,26132555 Autosomal dominant inheritance loss of function germline Genetic Alliance:Long+QT+Syndrome/4296;Genetic Testing Registry (GTR):GTR000323823;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500471;Genetic Testing Registry (GTR):GTR000500681;Genetic Testing Registry (GTR):GTR000501111;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000511116;Genetic Testing Registry (GTR):GTR000515873;Genetic Testing Registry (GTR):GTR000519089;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519380;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000519389;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520446;Genetic Testing Registry (GTR):GTR000520456;Genetic Testing Registry (GTR):GTR000520458;Genetic Testing Registry (GTR):GTR000520478;Genetic Testing Registry (GTR):GTR000522197;Genetic Testing Registry (GTR):GTR000522200;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000528336;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000552174;Genetic Testing Registry (GTR):GTR000552322;MeSH:D008133;MedGen:C0023976;OMIM:PS192500;SNOMED CT:9651007 -13 103049423 G A Haplotype 8241 RCV000008724 38442 SLC10A2 NM_000452.2:c.785C>T NP_000443.1:p.Thr262Met NM_000452.2:c.785C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 -13 103051290 A G Haplotype 8241 RCV000008724 23280 SLC10A2 NM_000452.2:c.728T>C NP_000443.1:p.Leu243Pro NM_000452.2:c.728T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 -13 110677007 G A CompoundHeterozygote 157655 RCV000170338 167502 CARS2 NM_024537.3:c.752C>T NP_078813.1:p.Pro251Leu NM_024537.3:c.752C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Shaikh Laboratory, University of Colorado Alpers encephalopathy;combined mitochondrial respiratory chain deficiency| neurological regression| complex movement disorder| intractable seizures;Alpers encephalopathy 25787132 germline MedGen:CN221139 -13 110683054 GCTC G CompoundHeterozygote 157655 RCV000170338 167501 CARS2 NM_024537.3:c.649_651delGAG NP_078813.1:p.Glu217del NM_024537.3:c.649_651delGAG:inframe_variant Pathogenic 1 0 0 no assertion criteria provided 0 Shaikh Laboratory, University of Colorado Alpers encephalopathy;combined mitochondrial respiratory chain deficiency| neurological regression| complex movement disorder| intractable seizures;Alpers encephalopathy 25787132 germline MedGen:CN221139 -13 110683054 GCTC G CompoundHeterozygote 157655 RCV000170338 167501 CARS2 NM_024537.3:c.649_651delGAG NP_078813.1:p.Glu217del NM_024537.3:c.649_651delGAG:inframe_variant Pathogenic 1 0 0 no assertion criteria provided 0 Shaikh Laboratory, University of Colorado Alpers encephalopathy;combined mitochondrial respiratory chain deficiency| neurological regression| complex movement disorder| intractable seizures;Alpers encephalopathy 25787132 germline MedGen:CN221139 -14 28767842 C G Phase unknown 189607 RCV000170068 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 RettBASE not provided;Not provided de novo MedGen:CN221809 -14 28767923 TC CT Phase unknown 189607 RCV000170068 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 RettBASE not provided;Not provided de novo MedGen:CN221809 -14 31562125 G A Haplotype 7 RCV000000017 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 0 0 0 criteria provided, single submitter 1 OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383,22072591,23553477,24088041,26633545 All ages germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 -14 31850092 T C Haplotype 7 RCV000000017 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations 1 OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383,22072591,23553477,24088041,26633545 All ages germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 -14 50911725 AGTAC A Haplotype 38368 RCV000020505 46929 PYGL NM_002863.4:c.1969+1_1969+4delGTAC NM_002863.4:c.1969+1_1969+4delGTAC:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025,20301760 Autosomal recessive inheritance Childhood not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;Genetic Testing Registry (GTR):GTR000500854;Genetic Testing Registry (GTR):GTR000506624;Genetic Testing Registry (GTR):GTR000507589;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 -14 50911730 CTTTTT AAAAAG Haplotype 38368 RCV000020505 46930 PYGL NM_002863.4:c.1964_1969invAAAAAG NP_002854.3:p.Glu655_Lys656del not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025,20301760 Autosomal recessive inheritance Childhood not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;Genetic Testing Registry (GTR):GTR000500854;Genetic Testing Registry (GTR):GTR000506624;Genetic Testing Registry (GTR):GTR000507589;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 -14 75103841 C A Haplotype 242987 RCV000234965 248590 NEK9 NM_033116.5:c.1731+1G>T NM_033116.5:c.1731+1G>T:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 -14 75103858 C A Haplotype 242987 RCV000234965 244069 NEK9 NM_033116.5:c.1715G>T NP_149107.4:p.Gly572Val NM_033116.5:c.1715G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 -14 77286815 G A CompoundHeterozygote 224662 RCV000231660 172251 POMT2 NM_013382.5:c.1261C>T NP_037514.2:p.Arg421Trp NM_013382.5:c.1261C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 20301468,27854218 Autosomal recessive inheritance Childhood <1 / 1 000 000 unknown GeneReviews:NBK1291;Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C2/8751;Genetic Testing Registry (GTR):GTR000501340;Genetic Testing Registry (GTR):GTR000501341;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000520475;MedGen:C3150418;OMIM:613158;Orphanet:206559 -14 77291325 TTA T CompoundHeterozygote 224662 RCV000231660 226478 POMT2 NM_013382.5:c.1170_1171delTA NP_037514.2:p.His390Glnfs NM_013382.5:c.1170_1171delTA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 20301468,27854218 Autosomal recessive inheritance Childhood <1 / 1 000 000 unknown GeneReviews:NBK1291;Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C2/8751;Genetic Testing Registry (GTR):GTR000501340;Genetic Testing Registry (GTR):GTR000501341;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000520475;MedGen:C3150418;OMIM:613158;Orphanet:206559 -14 94381049 G A Haplotype 219354 RCV000205893 33000 SERPINA1 NM_001127707.1:c.739C>T NP_001121179.1:p.Arg247Cys NM_001127701.1:c.739C>T:missense variant Uncertain significance;other 0 0 0 criteria provided, single submitter 1 HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488,20301692,24121147 Autosomal recessive inheritance;Codominant All ages 1-5 / 10 000 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;Genetic Testing Registry (GTR):GTR000258149;Genetic Testing Registry (GTR):GTR000260627;Genetic Testing Registry (GTR):GTR000320960;Genetic Testing Registry (GTR):GTR000500212;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000506377;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000519425;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 -14 94383051 G A Haplotype 219354 RCV000205893 33013 SERPINA1 NM_001127701.1:c.187C>T NP_001121173.1:p.Arg63Cys NM_001127701.1:c.187C>T:missense variant Likely pathogenic;Pathogenic;Uncertain significance;other 1 0 0 criteria provided, conflicting interpretations 1 HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488,20301692,24121147 Autosomal recessive inheritance;Codominant All ages 1-5 / 10 000 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;Genetic Testing Registry (GTR):GTR000258149;Genetic Testing Registry (GTR):GTR000260627;Genetic Testing Registry (GTR):GTR000320960;Genetic Testing Registry (GTR):GTR000500212;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000506377;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000519425;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 -15 32628797 G T CompoundHeterozygote 189391 RCV000172925 187271 ARHGAP11A NM_014783.5:c.932G>T NP_055598.1:p.Arg311Ile NM_014783.5:c.932G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Abrahams Lab,Albert Einstein College of Medicine Autism spectrum disorders;Macrocephaly;macrocephaly;autism 20466091,23519317,25190698,26076356 Autosomal dominant inheritance;X-linked dominant inheritance inherited Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre:13DG1472;GeneTests:198890;Genetic Alliance:Autism+Spectrum+Disorders/7767;Genetic Alliance:Macrocephaly/4387;Genetic Testing Registry (GTR):GTR000295241;Genetic Testing Registry (GTR):GTR000322654;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000331025;Genetic Testing Registry (GTR):GTR000500030;Genetic Testing Registry (GTR):GTR000500249;Genetic Testing Registry (GTR):GTR000500513;Genetic Testing Registry (GTR):GTR000500616;Genetic Testing Registry (GTR):GTR000500624;Genetic Testing Registry (GTR):GTR000500625;Genetic Testing Registry (GTR):GTR000502463;Genetic Testing Registry (GTR):GTR000502464;Genetic Testing Registry (GTR):GTR000503014;Genetic Testing Registry (GTR):GTR000503286;Genetic Testing Registry (GTR):GTR000503288;Genetic Testing Registry (GTR):GTR000505452;Genetic Testing Registry (GTR):GTR000505473;Genetic Testing Registry (GTR):GTR000506042;Genetic Testing Registry (GTR):GTR000508938;Genetic Testing Registry (GTR):GTR000509047;Genetic Testing Registry (GTR):GTR000509356;Genetic Testing Registry (GTR):GTR000519286;Genetic Testing Registry (GTR):GTR000520051;Genetic Testing Registry (GTR):GTR000520907;Genetic Testing Registry (GTR):GTR000520927;Genetic Testing Registry (GTR):GTR000521287;Genetic Testing Registry (GTR):GTR000522222;Genetic Testing Registry (GTR):GTR000525909;Genetic Testing Registry (GTR):GTR000528547;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000531722;Human Phenotype Ontology:HP:0000256;Human Phenotype Ontology:HP:0005491;Human Phenotype Ontology:HP:0005496;Human Phenotype Ontology:HP:0200135;MedGen:C1510586;MedGen:C2243051;OMIM:248000;OMIM:PS209850 -15 32635787 C G CompoundHeterozygote 189391 RCV000172925 187272 ARHGAP11A NM_014783.5:c.1355C>G NP_055598.1:p.Ser452Cys NM_014783.5:c.1355C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Abrahams Lab,Albert Einstein College of Medicine Autism spectrum disorders;Macrocephaly;macrocephaly;autism 20466091,23519317,25190698,26076356 Autosomal dominant inheritance;X-linked dominant inheritance inherited Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre:13DG1472;GeneTests:198890;Genetic Alliance:Autism+Spectrum+Disorders/7767;Genetic Alliance:Macrocephaly/4387;Genetic Testing Registry (GTR):GTR000295241;Genetic Testing Registry (GTR):GTR000322654;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000331025;Genetic Testing Registry (GTR):GTR000500030;Genetic Testing Registry (GTR):GTR000500249;Genetic Testing Registry (GTR):GTR000500513;Genetic Testing Registry (GTR):GTR000500616;Genetic Testing Registry (GTR):GTR000500624;Genetic Testing Registry (GTR):GTR000500625;Genetic Testing Registry (GTR):GTR000502463;Genetic Testing Registry (GTR):GTR000502464;Genetic Testing Registry (GTR):GTR000503014;Genetic Testing Registry (GTR):GTR000503286;Genetic Testing Registry (GTR):GTR000503288;Genetic Testing Registry (GTR):GTR000505452;Genetic Testing Registry (GTR):GTR000505473;Genetic Testing Registry (GTR):GTR000506042;Genetic Testing Registry (GTR):GTR000508938;Genetic Testing Registry (GTR):GTR000509047;Genetic Testing Registry (GTR):GTR000509356;Genetic Testing Registry (GTR):GTR000519286;Genetic Testing Registry (GTR):GTR000520051;Genetic Testing Registry (GTR):GTR000520907;Genetic Testing Registry (GTR):GTR000520927;Genetic Testing Registry (GTR):GTR000521287;Genetic Testing Registry (GTR):GTR000522222;Genetic Testing Registry (GTR):GTR000525909;Genetic Testing Registry (GTR):GTR000528547;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000531722;Human Phenotype Ontology:HP:0000256;Human Phenotype Ontology:HP:0005491;Human Phenotype Ontology:HP:0005496;Human Phenotype Ontology:HP:0200135;MedGen:C1510586;MedGen:C2243051;OMIM:248000;OMIM:PS209850 -15 40471616 C G Haplotype 2338 RCV000002428 17377 CHST14 NM_130468.3:c.403C>G NP_569735.1:p.Arg135Gly NM_130468.3:c.403C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007,20004762 Autosomal recessive inheritance Infancy <1 / 1 000 000 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetic Testing Registry (GTR):GTR000327667;Genetic Testing Registry (GTR):GTR000501091;Genetic Testing Registry (GTR):GTR000506316;Genetic Testing Registry (GTR):GTR000506317;Genetic Testing Registry (GTR):GTR000552603;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 -15 40471623 T A Haplotype 2338 RCV000002428 38426 CHST14 NM_130468.3:c.410T>A NP_569735.1:p.Leu137Gln NM_130468.3:c.410T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007,20004762 Autosomal recessive inheritance Infancy <1 / 1 000 000 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetic Testing Registry (GTR):GTR000327667;Genetic Testing Registry (GTR):GTR000501091;Genetic Testing Registry (GTR):GTR000506316;Genetic Testing Registry (GTR):GTR000506317;Genetic Testing Registry (GTR):GTR000552603;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 -15 42360025 C CT CompoundHeterozygote 224659 RCV000231993 98322 CAPN3 NM_000070.2:c.223dupT NP_000061.1:p.Tyr75Leufs NM_000070.2:c.223dupT:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy, type 2A 20301490,20301582,27854218,9762961 Autosomal recessive inheritance Adolescent 1-9 / 100 000;Rare - 63 per million loss of function inherited GeneReviews:NBK1313;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2A/4236;Genetic Testing Registry (GTR):GTR000332444;Genetic Testing Registry (GTR):GTR000502387;Genetic Testing Registry (GTR):GTR000502441;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000511445;Genetic Testing Registry (GTR):GTR000521018;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000530423;MedGen:C1869123;OMIM:253600;Office of Rare Diseases:1057;Orphanet:267 -15 42384492 G T CompoundHeterozygote 216898 RCV000196140 213633 CAPN3 NM_000070.2:c.319G>T NP_000061.1:p.Glu107Ter NM_000070.2:c.319G>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Limb-girdle muscular dystrophy, type 2A;Limb-girdle muscular dystrophy, type 2A 20301490,20301582,25326637,9762961 Autosomal recessive inheritance Adolescent 1-9 / 100 000;Rare - 63 per million loss of function unknown GeneReviews:NBK1313;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2A/4236;Genetic Testing Registry (GTR):GTR000332444;Genetic Testing Registry (GTR):GTR000502387;Genetic Testing Registry (GTR):GTR000502441;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000511445;Genetic Testing Registry (GTR):GTR000521018;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000530423;MedGen:C1869123;OMIM:253600;Office of Rare Diseases:1057;Orphanet:267 -15 42386226 C T CompoundHeterozygote 224659 RCV000231993 226480 CAPN3 NM_000070.2:c.439C>T NP_000061.1:p.Arg147Ter NM_000070.2:c.439C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy, type 2A 20301490,20301582,27854218,9762961 Autosomal recessive inheritance Adolescent 1-9 / 100 000;Rare - 63 per million loss of function inherited GeneReviews:NBK1313;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2A/4236;Genetic Testing Registry (GTR):GTR000332444;Genetic Testing Registry (GTR):GTR000502387;Genetic Testing Registry (GTR):GTR000502441;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000511445;Genetic Testing Registry (GTR):GTR000521018;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000530423;MedGen:C1869123;OMIM:253600;Office of Rare Diseases:1057;Orphanet:267 -15 42399617 G A CompoundHeterozygote 216898 RCV000196140 213634 CAPN3 NM_000070.2:c.1319G>A NP_000061.1:p.Arg440Gln NM_000070.2:c.1319G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Limb-girdle muscular dystrophy, type 2A;Limb-girdle muscular dystrophy, type 2A 20301490,20301582,25326637,9762961 Autosomal recessive inheritance Adolescent 1-9 / 100 000;Rare - 63 per million loss of function unknown GeneReviews:NBK1313;Genetic Alliance:Limb-girdle+muscular+dystrophy%2C+type+2A/4236;Genetic Testing Registry (GTR):GTR000332444;Genetic Testing Registry (GTR):GTR000502387;Genetic Testing Registry (GTR):GTR000502441;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000511445;Genetic Testing Registry (GTR):GTR000521018;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000530423;MedGen:C1869123;OMIM:253600;Office of Rare Diseases:1057;Orphanet:267 -15 43604408 G C CompoundHeterozygote 236066 RCV000225080 175969 STRC NM_153700.2:c.4171C>G NP_714544.1:p.Arg1391Gly NM_153700.2:c.4171C>G:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter 1 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal dominant 16 Childhood germline Gene:1694;MedGen:C1858916;OMIM:603964;Orphanet:90635 -15 43604720 G A CompoundHeterozygote 236066 RCV000225080 237617 STRC NM_153700.2:c.4057C>T NP_714544.1:p.Gln1353Ter NM_153700.2:c.4057C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal dominant 16 Childhood germline Gene:1694;MedGen:C1858916;OMIM:603964;Orphanet:90635 -15 44565997 G A CompoundHeterozygote 252959 RCV000239393 49777 SPG11 NM_025137.3:c.6856C>T NP_079413.3:p.Arg2286Ter NM_025137.3:c.6856C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong Spastic paraplegia 11, autosomal recessive 20301389,25741868 1-9 / 1 000 000 germline GeneReviews:NBK1210;Genetic Alliance:Spastic+paraplegia+11/6677;Genetics Home Reference:spastic-paraplegia-type-11;MedGen:C1858479;OMIM:604360;Office of Rare Diseases:4919;Orphanet:2822 -15 44622723 C T CompoundHeterozygote 252959 RCV000239393 247360 SPG11 NM_025137.3:c.2316+5G>A NM_025137.3:c.2316+5G>A:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong Spastic paraplegia 11, autosomal recessive 20301389,25741868 1-9 / 1 000 000 germline GeneReviews:NBK1210;Genetic Alliance:Spastic+paraplegia+11/6677;Genetics Home Reference:spastic-paraplegia-type-11;MedGen:C1858479;OMIM:604360;Office of Rare Diseases:4919;Orphanet:2822 -15 48229199 C G CompoundHeterozygote 216998 RCV000200351 213635 SLC12A1 NM_000338.2:c.735C>G NP_000329.2:p.Tyr245Ter NM_000338.2:c.735C>G:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Bartter syndrome, type 1, antenatal;Bartter syndrome antenatal type 1 25326637 1-9 / 1 000 000 germline MedGen:C1866495;OMIM:601678;Orphanet:112 -15 48246978 G A CompoundHeterozygote 216998 RCV000200351 213636 SLC12A1 NM_000338.2:c.1522G>A NP_000329.2:p.Ala508Thr NM_000338.2:c.1522G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Bartter syndrome, type 1, antenatal;Bartter syndrome antenatal type 1 25326637 1-9 / 1 000 000 germline MedGen:C1866495;OMIM:601678;Orphanet:112 -15 50490429 T G Haplotype 161994 RCV000149419 171716 USP8 NM_005154.4:c.2138T>G NP_005145.3:p.Leu713Arg NM_001128610.2:c.2138T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism Adult 1-9 / 100 000 somatic Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;OMIM:605555.0008;Orphanet:96253;SNOMED CT:190502001 -15 50490441 A G Haplotype 161994 RCV000149419 171717 USP8 NM_005154.4:c.2150A>G NP_005145.3:p.Tyr717Cys NM_001128610.2:c.2150A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism Adult 1-9 / 100 000 somatic Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;OMIM:605555.0008;Orphanet:96253;SNOMED CT:190502001 -15 50958492 G A Haplotype 224506 RCV000210065 226246 AP4E1 NM_007347.4:c.1549G>A NP_031373.2:p.Val517Ile NM_007347.4:c.1549G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121,26544806 germline Gene:100049541;MedGen:C0038131;OMIM:184450 -15 50997380 G A Haplotype 224506 RCV000210065 226245 AP4E1 NM_007347.4:c.2401G>A NP_031373.2:p.Glu801Lys NM_007347.4:c.2401G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121,26544806 germline Gene:100049541;MedGen:C0038131;OMIM:184450 -15 68208238 GCCAGGCGAC G CompoundHeterozygote 202195 RCV000184041 198635 CLN6 NM_017882.2:c.829_837delGTCGCCTGG NP_060352.1:p.Val277_Trp279del NM_017882.2:c.829_837delGTCGCCTGG:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 6;Ceroid lipofuscinosis neuronal 6 11727201,12673792,20301601 1-9 / 1 000 000 germline GeneReviews:NBK1428;Genetic Alliance:Ceroid+Lipofuscinosis+Neuronal+6/1257;MedGen:C1866282;OMIM:601780;Office of Rare Diseases:1224;Orphanet:168491 -15 68211697 TTGA T CompoundHeterozygote 202195 RCV000184041 19122 CLN6 NM_017882.2:c.460_462delATC NP_060352.1:p.Ile154del NM_017882.2:c.460_462delATC:inframe_variant Pathogenic 1 0 0 no assertion criteria provided 0 Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 6;Ceroid lipofuscinosis neuronal 6 11727201,12673792,20301601 1-9 / 1 000 000 germline GeneReviews:NBK1428;Genetic Alliance:Ceroid+Lipofuscinosis+Neuronal+6/1257;MedGen:C1866282;OMIM:601780;Office of Rare Diseases:1224;Orphanet:168491 -15 72351207 C T Haplotype 3923 RCV000004129 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222,2976595,8198136,8659543 germline MedGen:C1848916 -15 72351231 C G Haplotype 3923 RCV000004129 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222,2976595,8198136,8659543 germline MedGen:C1848916 -15 84647908 GC G CompoundHeterozygote 208973 RCV000201418 205480 WDR73 NM_032856.3:c.333delG NP_116245.2:p.Trp111Cysfs NM_032856.3:c.333delG:frameshift variant;NR_130944.1:n.839delG:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -15 84647949 A G CompoundHeterozygote 208973 RCV000201418 205481 WDR73 NM_032856.3:c.293T>C NP_116245.2:p.Leu98Pro NM_032856.3:c.293T>C:missense variant;NR_130944.1:n.799T>C:non-coding transcript variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -15 89321166 A G CompoundHeterozygote 268094 RCV000258814 263528 POLG NM_002693.2:c.2693T>C NP_002684.1:p.Ile898Thr NM_002693.2:c.2693T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 20301791,25741868 Autosomal recessive inheritance inherited GeneReviews:NBK26471;Genetic Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505;Genetic Testing Registry (GTR):GTR000503087;Genetic Testing Registry (GTR):GTR000508492;Genetic Testing Registry (GTR):GTR000528329;Genetic Testing Registry (GTR):GTR000529356;Genetic Testing Registry (GTR):GTR000529458;Genetic Testing Registry (GTR):GTR000552388;MedGen:C1843851;OMIM:607459;Office of Rare Diseases:9998;Orphanet:254818 -15 89321780 G A CompoundHeterozygote 216983 RCV000196524 202960 POLG NM_002693.2:c.2554C>T NP_002684.1:p.Arg852Cys NM_002693.2:c.2554C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Cerebellar ataxia infantile with progressive external ophthalmoplegia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Cerebellar ataxia infantile with progressive external ophthalmoplegia 20301791,25326637 Autosomal recessive inheritance All ages unknown GeneReviews:NBK26471;Genetic Alliance:Cerebellar+Ataxia+Infantile+with+Progressive+External+Ophthalmoplegia/1206;Genetic Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505;Genetic Testing Registry (GTR):GTR000503087;Genetic Testing Registry (GTR):GTR000508492;Genetic Testing Registry (GTR):GTR000528329;Genetic Testing Registry (GTR):GTR000529356;Genetic Testing Registry (GTR):GTR000529458;Genetic Testing Registry (GTR):GTR000552388;MedGen:C1843851;MedGen:C1850303;OMIM:174763.0002;OMIM:174763.0003;OMIM:174763.0004;OMIM:174763.0006;OMIM:174763.0007;OMIM:174763.0011;OMIM:174763.0018;OMIM:174763.0019;OMIM:258450;OMIM:607459;Office of Rare Diseases:1191;Office of Rare Diseases:9998;Orphanet:254818;Orphanet:254886 -15 89323426 C G Phase unknown 157526 RCV000144870 28546 POLG NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser NM_002693.2:c.2243G>C:missense variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547,15824347,20301532,22189570,25025039 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 -15 89327006 C G Phase unknown 157526 RCV000144870 28549 POLG NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His NM_002693.2:c.1491G>C:missense variant Pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations 1 Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547,15824347,20301532,22189570,25025039 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 -15 89329042 C A CompoundHeterozygote 268094 RCV000258814 263529 POLG NM_002693.2:c.924G>T NP_002684.1:p.Gln308His NM_002693.2:c.924G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 20301791,25741868 Autosomal recessive inheritance inherited GeneReviews:NBK26471;Genetic Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505;Genetic Testing Registry (GTR):GTR000503087;Genetic Testing Registry (GTR):GTR000508492;Genetic Testing Registry (GTR):GTR000528329;Genetic Testing Registry (GTR):GTR000529356;Genetic Testing Registry (GTR):GTR000529458;Genetic Testing Registry (GTR):GTR000552388;MedGen:C1843851;OMIM:607459;Office of Rare Diseases:9998;Orphanet:254818 -15 89333723 C T CompoundHeterozygote 216983 RCV000196524 192343 POLG NM_002693.2:c.32G>A NP_002684.1:p.Gly11Asp NM_002693.2:c.32G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Cerebellar ataxia infantile with progressive external ophthalmoplegia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Cerebellar ataxia infantile with progressive external ophthalmoplegia 20301791,25326637 Autosomal recessive inheritance All ages unknown GeneReviews:NBK26471;Genetic Alliance:Cerebellar+Ataxia+Infantile+with+Progressive+External+Ophthalmoplegia/1206;Genetic Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505;Genetic Testing Registry (GTR):GTR000503087;Genetic Testing Registry (GTR):GTR000508492;Genetic Testing Registry (GTR):GTR000528329;Genetic Testing Registry (GTR):GTR000529356;Genetic Testing Registry (GTR):GTR000529458;Genetic Testing Registry (GTR):GTR000552388;MedGen:C1843851;MedGen:C1850303;OMIM:174763.0002;OMIM:174763.0003;OMIM:174763.0004;OMIM:174763.0006;OMIM:174763.0007;OMIM:174763.0011;OMIM:174763.0018;OMIM:174763.0019;OMIM:258450;OMIM:607459;Office of Rare Diseases:1191;Office of Rare Diseases:9998;Orphanet:254818;Orphanet:254886 -15 91005693 C A CompoundHeterozygote 375263 RCV000416361 361964 VPS33B NM_018668.4:c.1030+1G>T NM_018668.4:c.1030+1G>T:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Arthrogryposis renal dysfunction cholestasis syndrome 25741868 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Arthrogryposis+Renal+Dysfunction+Cholestasis+Syndrome/613;MedGen:C1859722;OMIM:208085;Office of Rare Diseases:794;Orphanet:2697 -15 91013842 G A CompoundHeterozygote 375263 RCV000416361 361965 VPS33B NM_018668.4:c.319C>T NP_061138.3:p.Arg107Ter NM_018668.4:c.319C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Arthrogryposis renal dysfunction cholestasis syndrome 25741868 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Arthrogryposis+Renal+Dysfunction+Cholestasis+Syndrome/613;MedGen:C1859722;OMIM:208085;Office of Rare Diseases:794;Orphanet:2697 -16 177068 A G Haplotype 15762 RCV000017073 30800 HBA1 NM_000558.4:c.235A>G NP_000549.1:p.Asn79Asp NM_000558.4:c.235A>G:missense variant other 0 0 0 no assertion criteria provided 0 OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 -16 177072 C G Haplotype 15762 RCV000017073 38474 HBA1 NM_000558.4:c.239C>G NP_000549.1:p.Ala80Gly NM_000558.4:c.239C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 -16 1204325 G A Haplotype 2704 RCV000002823 17743 CACNA1H NM_021098.2:c.2318G>A NP_066921.2:p.Gly773Asp NM_021098.2:c.2318G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Epilepsy, childhood absence 6;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 12891677,15888660 Adolescent 1-9 / 100 000 germline Genetic Alliance:Epilepsy%2C+childhood+absence+6/8325;MedGen:C2749872;OMIM:611942;Orphanet:64280 -16 1204369 C T Haplotype 2704 RCV000002823 38427 CACNA1H NM_021098.2:c.2362C>T NP_066921.2:p.Arg788Cys NM_021098.2:c.2362C>T:missense variant Benign 0 1 0 criteria provided, single submitter 1 OMIM Epilepsy, childhood absence 6;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 12891677,15888660 Adolescent 1-9 / 100 000 germline Genetic Alliance:Epilepsy%2C+childhood+absence+6/8325;MedGen:C2749872;OMIM:611942;Orphanet:64280 -16 1495524 C T Haplotype 236230 RCV000225207 237798 TELO2 NM_016111.3:c.514C>T NP_057195.2:p.Gln172Ter NM_016111.3:c.514C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University You-Hoover-Fong syndrome;YOU-HOOVER-FONG SYNDROME 27132593 germline MedGen:CN236793;OMIM:616954 -16 1505602 G A Haplotype 236230 RCV000225207 237812 TELO2 NM_016111.3:c.2034+1G>A NM_016111.3:c.2034+1G>A:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University You-Hoover-Fong syndrome;YOU-HOOVER-FONG SYNDROME 27132593 germline MedGen:CN236793;OMIM:616954 -16 2060650 T A Haplotype 65347 RCV000055571 76281 TSC2 NM_000548.4:c.976-20T>A NM_000548.4:c.976-20T>A:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 20301399,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 -16 2081728 C CCTGTACAAGTCA Haplotype 64881 RCV000055081 75810 TSC2 NM_000548.4:c.3745_3756dupCTGTACAAGTCA NP_000539.2:p.Leu1253_Ser1254insTyrLysSerLeu NM_000548.4:c.3745_3756dupCTGTACAAGTCA:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 15798777,20301399,23519317,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 -16 2084578 GCC G Haplotype 65324 RCV000055548 76256 TSC2 NM_000548.4:c.4358_4359delCC NP_000539.2:p.Pro1453Glnfs NM_000548.4:c.4358_4359delCC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 11468687,20301399,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 -16 2084582 AGTGGCCTCCGGC A Haplotype 65324 RCV000055548 76257 TSC2 NM_000548.4:c.4361_4372delGTGGCCTCCGGC NP_000539.2:p.Ser1454_Pro1458delinsThr NM_000548.4:c.4361_4372delGTGGCCTCCGGC:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 11468687,20301399,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 -16 2085278 TACGACACCC T Haplotype 65183 RCV000055400 76115 TSC2 NM_000548.4:c.4621_4629delGACACCCAC NP_000539.2:p.Asp1541_His1543del NM_000548.4:c.4621_4629delGACACCCAC:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 20301399,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 -16 2496486 C A CompoundHeterozygote 212790 RCV000196831 209423 TBC1D24 NM_020705.2:c.338C>A NP_065756.1:p.Ala113Asp NM_001199107.1:c.338C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 ARUP Laboratories, Molecular Genetics and Genomics Myoclonic epilepsy, familial infantile;epileptic encephalopathy;Myoclonic epilepsy, familial infantile 25719194 Infancy <1 / 1 000 000 germline Gene:54119;GeneReviews:NBK274566;Genetic Alliance:Myoclonic+epilepsy%2C+familial+infantile/8939;MedGen:C0917800;OMIM:605021;Orphanet:352582 -16 2496624 T C CompoundHeterozygote 212790 RCV000196831 209424 TBC1D24 NM_020705.2:c.476T>C NP_065756.1:p.Leu159Pro NM_001199107.1:c.476T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 ARUP Laboratories, Molecular Genetics and Genomics Myoclonic epilepsy, familial infantile;epileptic encephalopathy;Myoclonic epilepsy, familial infantile 25719194 Infancy <1 / 1 000 000 germline Gene:54119;GeneReviews:NBK274566;Genetic Alliance:Myoclonic+epilepsy%2C+familial+infantile/8939;MedGen:C0917800;OMIM:605021;Orphanet:352582 -16 2499864 G C CompoundHeterozygote 217013 RCV000200681 213638 TBC1D24 NM_001199107.1:c.1236G>C NP_001186036.1:p.Trp412Cys NM_001199107.1:c.1236G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Digitorenocerebral syndrome;Myoclonic epilepsy, familial infantile;Early infantile epileptic encephalopathy 16;Digitorenocerebral syndrome;Early infantile epileptic encephalopathy 16;Myoclonic epilepsy, familial infantile 25326637,25719194 Autosomal recessive inheritance Infancy <1 / 1 000 000 loss of function germline Gene:54119;GeneReviews:NBK274566;Genetic Alliance:Digitorenocerebral+Syndrome/2280;Genetic Alliance:Myoclonic+epilepsy%2C+familial+infantile/8939;Genetic Testing Registry (GTR):GTR000522937;MedGen:C0917800;MedGen:C1857345;MedGen:C3809173;OMIM:220500;OMIM:222760;OMIM:605021;OMIM:613577.0007;OMIM:613577.0008;OMIM:613577.0009;OMIM:613577.0010;OMIM:613577.0011;OMIM:615338;Office of Rare Diseases:1864;Orphanet:293181;Orphanet:3231;Orphanet:352582;Orphanet:352596;Orphanet:79500 -16 2499916 T C CompoundHeterozygote 217013 RCV000200681 213639 TBC1D24 NM_001199107.1:c.1288T>C NP_001186036.1:p.Cys430Arg NM_001199107.1:c.1288T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Digitorenocerebral syndrome;Myoclonic epilepsy, familial infantile;Early infantile epileptic encephalopathy 16;Digitorenocerebral syndrome;Early infantile epileptic encephalopathy 16;Myoclonic epilepsy, familial infantile 25326637,25719194 Autosomal recessive inheritance Infancy <1 / 1 000 000 loss of function germline Gene:54119;GeneReviews:NBK274566;Genetic Alliance:Digitorenocerebral+Syndrome/2280;Genetic Alliance:Myoclonic+epilepsy%2C+familial+infantile/8939;Genetic Testing Registry (GTR):GTR000522937;MedGen:C0917800;MedGen:C1857345;MedGen:C3809173;OMIM:220500;OMIM:222760;OMIM:605021;OMIM:613577.0007;OMIM:613577.0008;OMIM:613577.0009;OMIM:613577.0010;OMIM:613577.0011;OMIM:615338;Office of Rare Diseases:1864;Orphanet:293181;Orphanet:3231;Orphanet:352582;Orphanet:352596;Orphanet:79500 -16 3243257 C A CompoundHeterozygote 216960 RCV000196026 17587 MEFV NM_000243.2:c.2230G>T NP_000234.1:p.Ala744Ser NM_000243.2:c.2230G>T:missense variant;NM_001198536.1:c.*434G>T:3 prime UTR variant Likely pathogenic;Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Familial Mediterranean fever;Familial Mediterranean fever 10090880,10612841,10842288,12384939,12955725,14578331,15024744,16120953,16439335,16614989,16802374,17489852,17566872,17665427,19253030,19449169,20041150,20165923,20301405,20534143,20645115,21413889,23742958,25326637,25628446,9668175 Autosomal recessive inheritance Adolescent >1 / 1000 gain of function germline GeneReviews:NBK1227;Genetic Alliance:Familial+Mediterranean+fever/2756;Genetic Testing Registry (GTR):GTR000317682;Genetic Testing Registry (GTR):GTR000320963;Genetic Testing Registry (GTR):GTR000327767;Genetic Testing Registry (GTR):GTR000501207;Genetic Testing Registry (GTR):GTR000501486;Genetic Testing Registry (GTR):GTR000506386;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000508733;Genetic Testing Registry (GTR):GTR000508985;Genetic Testing Registry (GTR):GTR000523787;Genetic Testing Registry (GTR):GTR000528905;Genetic Testing Registry (GTR):GTR000529138;Genetic Testing Registry (GTR):GTR000530037;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552054;MedGen:C0031069;OMIM:249100;Office of Rare Diseases:6421;Orphanet:342;SNOMED CT:12579009 -16 3243403 T C CompoundHeterozygote 216960 RCV000196026 17586 MEFV NM_000243.2:c.2084A>G NP_000234.1:p.Lys695Arg NM_000243.2:c.2084A>G:missense variant;NM_001198536.1:c.*288A>G:3 prime UTR variant Likely pathogenic;Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations 1 UCLA Clinical Genomics Center, UCLA Familial Mediterranean fever;Familial Mediterranean fever 10090880,10612841,10842288,12384939,12955725,14578331,15024744,16120953,16439335,16614989,16802374,17489852,17566872,17665427,19253030,19449169,20041150,20165923,20301405,20534143,20645115,21413889,23742958,25326637,25628446,9668175 Autosomal recessive inheritance Adolescent >1 / 1000 gain of function germline GeneReviews:NBK1227;Genetic Alliance:Familial+Mediterranean+fever/2756;Genetic Testing Registry (GTR):GTR000317682;Genetic Testing Registry (GTR):GTR000320963;Genetic Testing Registry (GTR):GTR000327767;Genetic Testing Registry (GTR):GTR000501207;Genetic Testing Registry (GTR):GTR000501486;Genetic Testing Registry (GTR):GTR000506386;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000508733;Genetic Testing Registry (GTR):GTR000508985;Genetic Testing Registry (GTR):GTR000523787;Genetic Testing Registry (GTR):GTR000528905;Genetic Testing Registry (GTR):GTR000529138;Genetic Testing Registry (GTR):GTR000530037;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552054;MedGen:C0031069;OMIM:249100;Office of Rare Diseases:6421;Orphanet:342;SNOMED CT:12579009 -16 3243405 C T Haplotype 2555 RCV000002664 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 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914,10090880,10364520,10612841,10787449,10980540,11484206,11938447,12401847,12929299,12955725,15942916,16255051,17331080,18097735,19967574,20041150,20534143,9668175 Adolescent >1 / 1000 germline Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 -16 3254626 C G Haplotype 2555 RCV000002664 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 Benign;Likely benign;Pathogenic;Uncertain significance 1 1 1 criteria provided, conflicting interpretations 1 OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914,10090880,10364520,10612841,10787449,10980540,11484206,11938447,12401847,12929299,12955725,15942916,16255051,17331080,18097735,19967574,20041150,20534143,9668175 Adolescent >1 / 1000 germline Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 -16 14593355 A AT Phase unknown 180663 RCV000162315 178829 PARN NM_002582.3:c.863dupA NP_002573.1:p.Asn288Lysfs NM_002582.3:c.863dupA:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 Autosomal dominant inheritance germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;Genetic Testing Registry (GTR):GTR000500027;Genetic Testing Registry (GTR):GTR000501116;Genetic Testing Registry (GTR):GTR000514651;Genetic Testing Registry (GTR):GTR000519421;Genetic Testing Registry (GTR):GTR000520395;Genetic Testing Registry (GTR):GTR000520398;Genetic Testing Registry (GTR):GTR000525856;Genetic Testing Registry (GTR):GTR000528069;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000529459;Genetic Testing Registry (GTR):GTR000551316;Genetic Testing Registry (GTR):GTR000552115;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 -16 14608273 ATACT A Phase unknown 180663 RCV000162315 178830 PARN NM_002582.3:c.659+4_659+7delAGTA NM_002582.3:c.659+4_659+7delAGTA:intron variant Pathogenic 1 0 0 no assertion criteria provided 0 Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 Autosomal dominant inheritance germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;Genetic Testing Registry (GTR):GTR000500027;Genetic Testing Registry (GTR):GTR000501116;Genetic Testing Registry (GTR):GTR000514651;Genetic Testing Registry (GTR):GTR000519421;Genetic Testing Registry (GTR):GTR000520395;Genetic Testing Registry (GTR):GTR000520398;Genetic Testing Registry (GTR):GTR000525856;Genetic Testing Registry (GTR):GTR000528069;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000529459;Genetic Testing Registry (GTR):GTR000551316;Genetic Testing Registry (GTR):GTR000552115;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 -16 15718337 C T Haplotype 14131 RCV000015192 29170 MYH11 NM_001040113.1:c.5294G>A NP_001035202.1:p.Arg1765Gln NM_001040113.1:c.5294G>A:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581,16444274,20301299,23788249,24882528,25173340,25356965,27854360 Autosomal dominant inheritance germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000512363;Genetic Testing Registry (GTR):GTR000523358;Genetic Testing Registry (GTR):GTR000523829;Genetic Testing Registry (GTR):GTR000525815;Genetic Testing Registry (GTR):GTR000525817;Genetic Testing Registry (GTR):GTR000525822;Genetic Testing Registry (GTR):GTR000525925;Genetic Testing Registry (GTR):GTR000528386;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 -16 15721421 C A Haplotype 14131 RCV000015192 75290 MYH11 NM_001040113.1:c.4599+1G>T NM_001040113.1:c.4599+1G>T:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581,16444274,20301299,23788249,24882528,25173340,25356965,27854360 Autosomal dominant inheritance germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000512363;Genetic Testing Registry (GTR):GTR000523358;Genetic Testing Registry (GTR):GTR000523829;Genetic Testing Registry (GTR):GTR000525815;Genetic Testing Registry (GTR):GTR000525817;Genetic Testing Registry (GTR):GTR000525822;Genetic Testing Registry (GTR):GTR000525925;Genetic Testing Registry (GTR):GTR000528386;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 -16 30186646 CCT C CompoundHeterozygote 219014 RCV000203415 49379 CORO1A NM_007074.3:c.248_249delCT NP_009005.1:p.Pro83Argfs NM_001193333.2:c.248_249delCT:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Immunodeficiency 8 25073507 Infancy <1 / 1 000 000 inherited MedGen:C3809383;OMIM:615401;Orphanet:228003 -16 30188371 TC T CompoundHeterozygote 219014 RCV000203415 167370 CORO1A NM_007074.3:c.1078delC NP_009005.1:p.Gln360Argfs NM_001193333.2:c.1078delC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Immunodeficiency 8 25073507 Infancy <1 / 1 000 000 inherited MedGen:C3809383;OMIM:615401;Orphanet:228003 -16 47696408 T C Haplotype 13621 RCV000014591 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085,9215682 Childhood germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 -16 47696411 G T Haplotype 13621 RCV000014591 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085,9215682 Childhood germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 -16 56868355 C T Haplotype 8596 RCV000009127 23635 SLC12A3 NM_000339.2:c.488C>T NP_000330.2:p.Thr163Met NM_000339.2:c.488C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984,21343949 Childhood 1-9 / 100 000 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 -16 56885288 C T CompoundHeterozygote 265793 RCV000256196 260483 SLC12A3 NM_000339.2:c.1849C>T NP_000330.2:p.Gln617Ter NM_000339.2:c.1849C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Familial hypokalemia-hypomagnesemia 21343949,25741868 Childhood 1-9 / 100 000 unknown Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 -16 56885358 A G CompoundHeterozygote 265793 RCV000256196 260484 SLC12A3 NM_000339.2:c.1919A>G NP_000330.2:p.Asn640Ser NM_000339.2:c.1919A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Familial hypokalemia-hypomagnesemia 21343949,25741868 Childhood 1-9 / 100 000 unknown Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 -16 56894594 G A Haplotype 8596 RCV000009127 38443 SLC12A3 NM_000339.2:c.2612G>A NP_000330.2:p.Arg871His NM_000339.2:c.2612G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984,21343949 Childhood 1-9 / 100 000 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 -16 67942567 G A Haplotype 3667 RCV000003852 38429 LCAT NM_000229.1:c.544C>T NP_000220.1:p.Arg182Cys NM_000229.1:c.544C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Norum disease;LCAT DEFICIENCY 8432868 All ages <1 / 1 000 000 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 -16 67942939 C T Haplotype 3667 RCV000003852 18706 LCAT NM_000229.1:c.349G>A NP_000220.1:p.Ala117Thr NM_000229.1:c.349G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Norum disease;LCAT DEFICIENCY 8432868 All ages <1 / 1 000 000 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 -16 74774586 T TCCTGGCCCGC CompoundHeterozygote 202189 RCV000184035 198636 FA2H NM_024306.4:c.150_159dupGCGGGCCAGG NP_077282.3:p.Asp57Glyfs NM_024306.4:c.150_159dupGCGGGCCAGG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Spastic paraplegia 35;Spastic paraplegia 35 21735565 Adolescent <1 / 1 000 000 germline GeneReviews:NBK56080;Genetic Alliance:Leukodystrophy%2C+dysmyelinating%2C+and+spastic+paraparesis+with+or+without+dystonia/4201;MedGen:C3668943;OMIM:611026.0001;OMIM:611026.0002;OMIM:611026.0003;OMIM:611026.0004;OMIM:611026.0005;OMIM:611026.0006;OMIM:611026.0007;OMIM:611026.0008;OMIM:612319;Orphanet:171629 -16 74774639 G T CompoundHeterozygote 202189 RCV000184035 198637 FA2H NM_024306.4:c.117C>A NP_077282.3:p.Phe39Leu NM_024306.4:c.117C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Spastic paraplegia 35;Spastic paraplegia 35 21735565 Adolescent <1 / 1 000 000 germline GeneReviews:NBK56080;Genetic Alliance:Leukodystrophy%2C+dysmyelinating%2C+and+spastic+paraparesis+with+or+without+dystonia/4201;MedGen:C3668943;OMIM:611026.0001;OMIM:611026.0002;OMIM:611026.0003;OMIM:611026.0004;OMIM:611026.0005;OMIM:611026.0006;OMIM:611026.0007;OMIM:611026.0008;OMIM:612319;Orphanet:171629 -16 88720174 G A Haplotype 55809 RCV000049235 70465 PIEZO1 NM_001142864.3:c.6059C>T NP_001136336.2:p.Ala2020Val NM_001142864.3:c.6059C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567,9718354 Infancy <1 / 1 000 000 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 -16 88727144 G A Haplotype 55809 RCV000049235 70466 PIEZO1 NM_001142864.3:c.3350C>T NP_001136336.2:p.Ser1117Leu NM_001142864.3:c.3350C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567,9718354 Infancy <1 / 1 000 000 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 -16 88733652 C T Haplotype 55813 RCV000049238 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917,23479567,9827909 Infancy <1 / 1 000 000 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 -16 88733731 C T Haplotype 55813 RCV000049238 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917,23479567,9827909 Infancy <1 / 1 000 000 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 -16 88734844 G C Haplotype 55813 RCV000049238 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917,23479567,9827909 Infancy <1 / 1 000 000 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 -16 89546737 C T CompoundHeterozygote 217005 RCV000198007 51184 SPG7 NM_003119.3:c.1529C>T NP_003110.1:p.Ala510Val NM_003119.3:c.1529C>T:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 UCLA Clinical Genomics Center, UCLA Spastic paraplegia 7;Spastic paraplegia 7 20301286,25326637,26626314 All ages 1-9 / 100 000 unknown GeneReviews:NBK1107;Genetic Alliance:Spastic+paraplegia+7/6699;Genetics Home Reference:spastic-paraplegia-type-7;MedGen:C1846564;OMIM:607259;Office of Rare Diseases:4927;Orphanet:99013 -16 89554502 T CCAAGTCTGTA CompoundHeterozygote 217005 RCV000198007 213642 SPG7 NM_003119.3:c.2120delTinsCCAAGTCTGTA NP_003110.1:p.Val707Alafs NM_003119.3:c.2120delTinsCCAAGTCTGTA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Spastic paraplegia 7;Spastic paraplegia 7 20301286,25326637,26626314 All ages 1-9 / 100 000 unknown GeneReviews:NBK1107;Genetic Alliance:Spastic+paraplegia+7/6699;Genetics Home Reference:spastic-paraplegia-type-7;MedGen:C1846564;OMIM:607259;Office of Rare Diseases:4927;Orphanet:99013 -17 7220519 C T Haplotype 1631 RCV000001698 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204,20301763,27209629 Autosomal recessive inheritance Infancy 1 - 9 / 100 000;1-9 / 100 000 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;Genetic Testing Registry (GTR):GTR000328131;Genetic Testing Registry (GTR):GTR000501713;Genetic Testing Registry (GTR):GTR000501716;Genetic Testing Registry (GTR):GTR000506347;Genetic Testing Registry (GTR):GTR000514645;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000521370;Genetic Testing Registry (GTR):GTR000521512;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000530051;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0342784;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 -17 7222068 A C Haplotype 1631 RCV000001698 38417 ACADVL NM_000018.3:c.739A>C NP_000009.1:p.Lys247Gln NM_000018.3:c.739A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204,20301763,27209629 Autosomal recessive inheritance Infancy 1 - 9 / 100 000;1-9 / 100 000 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;Genetic Testing Registry (GTR):GTR000328131;Genetic Testing Registry (GTR):GTR000501713;Genetic Testing Registry (GTR):GTR000501716;Genetic Testing Registry (GTR):GTR000506347;Genetic Testing Registry (GTR):GTR000514645;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000521370;Genetic Testing Registry (GTR):GTR000521512;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000530051;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0342784;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 -17 8014699 G C Haplotype 9354;9356 RCV000009948;RCV000009950 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant not provided 0 0 0 no assertion provided 0 OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719,11565546,9097965,9618177;9683616 Autosomal dominant inheritance Childhood 1-9 / 100 000 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetic Testing Registry (GTR):GTR000501118;Genetic Testing Registry (GTR):GTR000520022;Genetic Testing Registry (GTR):GTR000520023;Genetic Testing Registry (GTR):GTR000520060;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 -17 8014700 C A Haplotype 9354 RCV000009948 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant not provided 0 0 0 no assertion provided 0 OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719,11565546,9097965,9618177 Autosomal dominant inheritance Childhood 1-9 / 100 000 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetic Testing Registry (GTR):GTR000501118;Genetic Testing Registry (GTR):GTR000520022;Genetic Testing Registry (GTR):GTR000520023;Genetic Testing Registry (GTR):GTR000520060;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 -17 8014700 C T Haplotype 9356 RCV000009950 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided 0 OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 Autosomal dominant inheritance Childhood 1-9 / 100 000 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetic Testing Registry (GTR):GTR000501118;Genetic Testing Registry (GTR):GTR000520022;Genetic Testing Registry (GTR):GTR000520023;Genetic Testing Registry (GTR):GTR000520060;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 -17 8014704 C T Haplotype 9356 RCV000009950 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant not provided 0 0 0 no assertion provided 0 OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 Autosomal dominant inheritance Childhood 1-9 / 100 000 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetic Testing Registry (GTR):GTR000501118;Genetic Testing Registry (GTR):GTR000520022;Genetic Testing Registry (GTR):GTR000520023;Genetic Testing Registry (GTR):GTR000520060;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 -17 17215294 G TC Haplotype 3377 RCV000003544 243924 FLCN NM_144997.5:c.1323delCinsGA NP_659434.2:p.His442Thrfs NM_144997.5:c.1323delCinsGA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655,19562744,20301695,24319509,25394175 Autosomal dominant inheritance Adult 1-9 / 1 000 000 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetic Testing Registry (GTR):GTR000501362;Genetic Testing Registry (GTR):GTR000501366;Genetic Testing Registry (GTR):GTR000501438;Genetic Testing Registry (GTR):GTR000501439;Genetic Testing Registry (GTR):GTR000501440;Genetic Testing Registry (GTR):GTR000510973;Genetic Testing Registry (GTR):GTR000520030;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000528534;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 -17 17215312 AAACTCTGTAAC A Haplotype 3377 RCV000003544 18416 FLCN NM_144997.5:c.1301-7_1304delGTTACAGAGTT NM_144997.5:c.1301-7_1304delGTTACAGAGTT:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655,19562744,20301695,24319509,25394175 Autosomal dominant inheritance Adult 1-9 / 1 000 000 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetic Testing Registry (GTR):GTR000501362;Genetic Testing Registry (GTR):GTR000501366;Genetic Testing Registry (GTR):GTR000501438;Genetic Testing Registry (GTR):GTR000501439;Genetic Testing Registry (GTR):GTR000501440;Genetic Testing Registry (GTR):GTR000510973;Genetic Testing Registry (GTR):GTR000520030;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000528534;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 -17 18119172 CCG C CompoundHeterozygote 236054 RCV000225017 237619 MYO15A NM_016239.3:c.373_374delCG NP_057323.3:p.Arg125Valfs NM_016239.3:c.373_374delCG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 3 20301607 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+3/8169;MedGen:C1838263;OMIM:600316;Orphanet:90636 -17 18154714 G A CompoundHeterozygote 236054 RCV000225017 230744 MYO15A NM_016239.3:c.8183G>A NP_057323.3:p.Arg2728His NM_016239.3:c.8183G>A:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 3 20301607 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+3/8169;MedGen:C1838263;OMIM:600316;Orphanet:90636 -17 28357710 G C CompoundHeterozygote 222472 RCV000210786 224173 TMEM199 NM_152464.2:c.40G>C NP_689677.1:p.Ala14Pro NM_152464.2:c.40G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center Congenital disorders of glycosylation type II;Congenital disorders of Glycosylation type II 26833330 germline MedGen:CN234782 -17 28360528 G A CompoundHeterozygote 222472 RCV000210786 224174 TMEM199 NM_152464.2:c.376-1G>A NM_152464.2:c.376-1G>A:splice acceptor variant Pathogenic 1 0 0 no assertion criteria provided 0 Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center Congenital disorders of glycosylation type II;Congenital disorders of Glycosylation type II 26833330 germline MedGen:CN234782 -17 31250916 TA T CompoundHeterozygote 217112 RCV000200907 213715 NF1 NM_001042492.2:c.4110+1798del NM_000267.3:c.4110+1798del:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Medical Genomics Laboratory,Department of Genetics UAB Neurofibromatosis, type 1;Neurofibromatosis, type 1 10862084,15604628,17636453,20065170,20301288,24893135,26189818 Autosomal dominant inheritance Infancy 1-5 / 10 000;1:3,000 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;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 -17 42686969 T C CompoundHeterozygote 236196 RCV000225022 237757 CNTNAP1 NM_003632.2:c.967T>C NP_003623.1:p.Cys323Arg NM_003632.2:c.967T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes Lethal congenital contracture syndrome 7 germline Human Phenotype Ontology:HP:0002804;Human Phenotype Ontology:HP:0007108;MedGen:CN228895;OMIM:616286 -17 42690752 G A CompoundHeterozygote 236196 RCV000225022 237756 CNTNAP1 NM_003632.2:c.1869G>A NP_003623.1:p.Trp623Ter NM_003632.2:c.1869G>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes Lethal congenital contracture syndrome 7 germline Human Phenotype Ontology:HP:0002804;Human Phenotype Ontology:HP:0007108;MedGen:CN228895;OMIM:616286 -17 43095875 T C Haplotype 236265 RCV000225499 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 not reported for simple variant 0 0 0 criteria provided, conflicting interpretations 1 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 Autosomal dominant inheritance All ages 1-9 / 100 000;Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. 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):GTR000520117;Genetic Testing Registry (GTR):GTR000520118;Genetic Testing Registry (GTR):GTR000520119;Genetic Testing Registry (GTR):GTR000520122;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):GTR000552078;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 -17 43095924 T G Haplotype 236265 RCV000225499 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant not reported for simple variant 0 0 0 criteria provided, conflicting interpretations 1 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 Autosomal dominant inheritance All ages 1-9 / 100 000;Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. 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):GTR000520117;Genetic Testing Registry (GTR):GTR000520118;Genetic Testing Registry (GTR):GTR000520119;Genetic Testing Registry (GTR):GTR000520122;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):GTR000552078;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 -17 44379780 A G CompoundHeterozygote 216944 RCV000198077 17939 ITGA2B NM_000419.4:c.1787T>C NP_000410.2:p.Ile596Thr NM_000419.4:c.1787T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA Glanzmann thrombasthenia;Glanzmann's thrombasthenia 25326637 Autosomal recessive inheritance Infancy unknown Genetic Alliance:Thrombasthenia+of+Glanzmann+and+Naegeli/7074;Genetic Testing Registry (GTR):GTR000502545;Genetic Testing Registry (GTR):GTR000509864;Genetic Testing Registry (GTR):GTR000514588;Genetic Testing Registry (GTR):GTR000519119;Genetic Testing Registry (GTR):GTR000552337;Genetics Home Reference:glanzmann-thrombasthenia;MedGen:C0040015;OMIM:273800;Office of Rare Diseases:2478;Orphanet:849;SNOMED CT:32942005 -17 44385686 G C CompoundHeterozygote 216944 RCV000198077 213645 ITGA2B NM_000419.4:c.439C>G NP_000410.2:p.Leu147Val NM_000419.4:c.439C>G:missense variant Benign 0 1 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Glanzmann thrombasthenia;Glanzmann's thrombasthenia 25326637 Autosomal recessive inheritance Infancy unknown Genetic Alliance:Thrombasthenia+of+Glanzmann+and+Naegeli/7074;Genetic Testing Registry (GTR):GTR000502545;Genetic Testing Registry (GTR):GTR000509864;Genetic Testing Registry (GTR):GTR000514588;Genetic Testing Registry (GTR):GTR000519119;Genetic Testing Registry (GTR):GTR000552337;Genetics Home Reference:glanzmann-thrombasthenia;MedGen:C0040015;OMIM:273800;Office of Rare Diseases:2478;Orphanet:849;SNOMED CT:32942005 -17 44911369 C T Haplotype 190352 RCV000192152 77412 GFAP NM_002055.4:c.994G>A NP_002046.1:p.Glu332Lys NM_002055.4:c.994G>A:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided 0 GeneReviews Alexander's disease;Alexander's disease 18004641,20301351,21533827 All ages <1 / 1 000 000 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 -17 44911375 G C Haplotype 190352 RCV000192152 77410 GFAP NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly NM_002055.4:c.988C>G:missense variant not provided 0 0 0 no assertion provided 0 GeneReviews Alexander's disease;Alexander's disease 18004641,20301351,21533827 All ages <1 / 1 000 000 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 -17 44913382 C G Haplotype 190336 RCV000192110 77391 GFAP NM_002055.4:c.667G>C NP_002046.1:p.Glu223Gln NM_002055.4:c.667G>C:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided 0 GeneReviews Alexander's disease;Alexander's disease 14707518,15060693,19444543,20301351,21533827 All ages <1 / 1 000 000 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 -17 44915251 C T Haplotype 190336 RCV000192110 31209 GFAP NM_002055.4:c.236G>A NP_002046.1:p.Arg79His NM_002055.4:c.236G>A:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided 0 GeneReviews Alexander's disease;Alexander's disease 14707518,15060693,19444543,20301351,21533827 All ages <1 / 1 000 000 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 -17 46932200 G A CompoundHeterozygote 216938 RCV000198527 208401 GOSR2 NM_004287.4:c.336+1G>A NM_004287.4:c.336+1G>A:splice donor variant Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Epilepsy, progressive myoclonic 6;Epilepsy, progressive myoclonic 6 25326637 Childhood <1 / 1 000 000 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+6/8336;MedGen:C3279627;OMIM:614018;Orphanet:280620 -17 46935122 G T CompoundHeterozygote 216938 RCV000198527 39363 GOSR2 NM_004287.4:c.430G>T NP_004278.2:p.Gly144Trp NM_001321134.1:c.282+2923G>T:intron variant;NM_004287.4:c.430G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 UCLA Clinical Genomics Center, UCLA Epilepsy, progressive myoclonic 6;Epilepsy, progressive myoclonic 6 25326637 Childhood <1 / 1 000 000 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+6/8336;MedGen:C3279627;OMIM:614018;Orphanet:280620 -17 75517064 T C Haplotype 2121 RCV000002203 38422 TSEN54 NM_207346.2:c.277T>C NP_997229.2:p.Ser93Pro NM_207346.2:c.277T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368,20301773 Autosomal recessive inheritance Antenatal <1 / 1 000 000 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;Genetic Testing Registry (GTR):GTR000320599;Genetic Testing Registry (GTR):GTR000500167;Genetic Testing Registry (GTR):GTR000500222;Genetic Testing Registry (GTR):GTR000507730;Genetic Testing Registry (GTR):GTR000507731;Genetic Testing Registry (GTR):GTR000512857;Genetic Testing Registry (GTR):GTR000528277;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 -17 75522000 G T Haplotype 2121 RCV000002203 17159 TSEN54 NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser NM_207346.2:c.919G>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368,20301773 Autosomal recessive inheritance Antenatal <1 / 1 000 000 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;Genetic Testing Registry (GTR):GTR000320599;Genetic Testing Registry (GTR):GTR000500167;Genetic Testing Registry (GTR):GTR000500222;Genetic Testing Registry (GTR):GTR000507730;Genetic Testing Registry (GTR):GTR000507731;Genetic Testing Registry (GTR):GTR000512857;Genetic Testing Registry (GTR):GTR000528277;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 -18 3215158 CAC GAG Haplotype 229030 RCV000221703 230906 MYOM1 NM_003803.3:c.64_66delGTGinsCTC NP_003794.3:p.Val22Leu NM_003803.3:c.64_66delGTGinsCTC:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -18 3215159 A C Haplotype 229030 RCV000221703 230904 MYOM1 NM_003803.3:c.65T>G NP_003794.3:p.Val22Gly NM_003803.3:c.65T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -18 23536680 G GAAAT CompoundHeterozygote 216973 RCV000197375 213648 NPC1 NM_000271.4:c.3234_3237dupATTT NP_000262.2:p.Pro1080Ilefs NM_000271.4:c.3234_3237dupATTT:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Niemann-Pick disease type C1;Niemann-Pick disease type C1 20301473,25326637 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneReviews:NBK1296;Genetic Alliance:Niemann-Pick+disease+type+C1/5223;Genetic Testing Registry (GTR):GTR000552033;MedGen:C3179455;OMIM:257220;OMIM:607623.0011;OMIM:607623.0012;Office of Rare Diseases:7207;Orphanet:646 -18 23543487 G T CompoundHeterozygote 216973 RCV000197375 213649 NPC1 NM_000271.4:c.2213C>A NP_000262.2:p.Ser738Ter NM_000271.4:c.2213C>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Niemann-Pick disease type C1;Niemann-Pick disease type C1 20301473,25326637 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneReviews:NBK1296;Genetic Alliance:Niemann-Pick+disease+type+C1/5223;Genetic Testing Registry (GTR):GTR000552033;MedGen:C3179455;OMIM:257220;OMIM:607623.0011;OMIM:607623.0012;Office of Rare Diseases:7207;Orphanet:646 -18 46524734 G A CompoundHeterozygote 236045 RCV000225012 39947 LOXHD1 NM_144612.6:c.4714C>T NP_653213.6:p.Arg1572Ter NM_144612.6:c.4714C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 77 20301607,21465660 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+77/8186;MedGen:C2746083;OMIM:613079;Orphanet:90636 -18 46529227 G A CompoundHeterozygote 236045 RCV000225012 176561 LOXHD1 NM_144612.6:c.4480C>T NP_653213.6:p.Arg1494Ter NM_144612.6:c.4480C>T:nonsense Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 Laboratory of Prof. Karen Avraham,Tel Aviv University Deafness, autosomal recessive 77 20301607,21465660 Infancy germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+77/8186;MedGen:C2746083;OMIM:613079;Orphanet:90636 -18 53467923 A G Haplotype 375288 RCV000416369 362059 DCC NM_005215.3:c.3649A>G NP_005206.2:p.Met1217Val NM_005215.3:c.3649A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Neurogenetics Research, Murdoch Childrens Research Institute Corpus callosum agenesis Autosomal recessive inheritance germline Genetic Alliance:Agenesis+of+the+Corpus+Callosum/263;Genetic Testing Registry (GTR):GTR000331025;Genetic Testing Registry (GTR):GTR000512629;Genetic Testing Registry (GTR):GTR000520970;MedGen:C0175754;OMIM:217990;Office of Rare Diseases:1535;Orphanet:200 -18 53486808 G A Haplotype 375288 RCV000416369 362060 DCC NM_005215.3:c.3748G>A NP_005206.2:p.Ala1250Thr NM_005215.3:c.3748G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Neurogenetics Research, Murdoch Childrens Research Institute Corpus callosum agenesis Autosomal recessive inheritance germline Genetic Alliance:Agenesis+of+the+Corpus+Callosum/263;Genetic Testing Registry (GTR):GTR000331025;Genetic Testing Registry (GTR):GTR000512629;Genetic Testing Registry (GTR):GTR000520970;MedGen:C0175754;OMIM:217990;Office of Rare Diseases:1535;Orphanet:200 -18 57550753 A C Haplotype 561 RCV000000591 38381 FECH NM_001012515.2:c.1249T>G NP_001012533.1:p.Cys417Gly NM_000140.3:c.1231T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Erythropoietic protoporphyria;PROTOPORPHYRIA, ERYTHROPOIETIC 10942404,23016163 Infancy <1 / 1 000 000 germline GeneReviews:NBK100826;Genetic Alliance:Erythropoietic+Protoporphyria/2648;MedGen:C0162568;OMIM:177000;Office of Rare Diseases:4527;Orphanet:79278;SNOMED CT:51022005 -18 57550759 G A Haplotype 561 RCV000000591 38382 FECH NM_001012515.2:c.1243C>T NP_001012533.1:p.Pro415Ser NM_000140.3:c.1225C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Erythropoietic protoporphyria;PROTOPORPHYRIA, ERYTHROPOIETIC 10942404,23016163 Infancy <1 / 1 000 000 germline GeneReviews:NBK100826;Genetic Alliance:Erythropoietic+Protoporphyria/2648;MedGen:C0162568;OMIM:177000;Office of Rare Diseases:4527;Orphanet:79278;SNOMED CT:51022005 -18 57550760 A T Haplotype 561 RCV000000591 15600 FECH NM_001012515.2:c.1242T>A NP_001012533.1:p.Asn414Lys NM_000140.3:c.1224T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Erythropoietic protoporphyria;PROTOPORPHYRIA, ERYTHROPOIETIC 10942404,23016163 Infancy <1 / 1 000 000 germline GeneReviews:NBK100826;Genetic Alliance:Erythropoietic+Protoporphyria/2648;MedGen:C0162568;OMIM:177000;Office of Rare Diseases:4527;Orphanet:79278;SNOMED CT:51022005 -18 58723046 A G CompoundHeterozygote 189258 RCV000169692 187140 MALT1 NM_006785.3:c.1019-2A>G NM_006785.3:c.1019-2A>G:splice acceptor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Puck Laboratory, University of California, San Francisco Combined immunodeficiency;Infections;Poor growth;Eczematous rash;Inflammatory bowel disease;Poor specific antibody responses;Decreased T regulatory cells;Cytomegalovirus infection;Combined immunodeficiency 25627829 de novo MedGen:C0494261;Puck Laboratory, University of California, San Francisco:S465.1 -18 58723087 AC A CompoundHeterozygote 189258 RCV000169692 187141 MALT1 NM_006785.3:c.1060delC NP_006776.1:p.Arg354Glyfs NM_006785.3:c.1060delC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Puck Laboratory, University of California, San Francisco Combined immunodeficiency;Infections;Poor growth;Eczematous rash;Inflammatory bowel disease;Poor specific antibody responses;Decreased T regulatory cells;Cytomegalovirus infection;Combined immunodeficiency 25627829 de novo MedGen:C0494261;Puck Laboratory, University of California, San Francisco:S465.1 -18 79973765 C A CompoundHeterozygote 190411 RCV000170535 171912 TXNL4A NM_006701.4:c.349G>T NP_001292492.1:p.Glu46Ter NM_001305563.1:c.136G>T:nonsense;NR_131175.1:n.768G>T:non-coding transcript variant Pathogenic 1 0 0 no assertion criteria provided 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health Burn-McKeown syndrome;Burn-Mckeown syndrome 25434003,27413799 Neonatal <1 / 1 000 000 germline Genetics Home Reference:burn-mckeown-syndrome;MedGen:C1837822;OMIM:608572;Orphanet:1200 -18 79988261 GA G CompoundHeterozygote 190415 RCV000170539 171914 TXNL4A NM_006701.4:c.131delT NP_006692.1:p.Val44Alafs NM_001303471.2:c.-136delT:5 prime UTR variant;NM_001305557.1:c.129+2delT:splice donor variant;NM_001305563.1:c.-60-10561delT:intron variant;NM_006701.4:c.131delT:frameshift variant;NR_131175.1:n.331delT:non-coding transcript variant Pathogenic 1 0 0 no assertion criteria provided 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health Burn-McKeown syndrome;Burn-Mckeown syndrome 25434003,27413799 Neonatal <1 / 1 000 000 germline Genetics Home Reference:burn-mckeown-syndrome;MedGen:C1837822;OMIM:608572;Orphanet:1200 -18 79988356 G A CompoundHeterozygote 190412 RCV000170536 171913 TXNL4A NM_006701.4:c.37C>T NP_006692.1:p.Gln13Ter NM_001303471.2:c.-230C>T:5 prime UTR variant;NM_001305563.1:c.-60-10655C>T:intron variant;NM_006701.4:c.37C>T:nonsense;NR_131175.1:n.237C>T:non-coding transcript variant Pathogenic 1 0 0 no assertion criteria provided 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health Burn-McKeown syndrome;Burn-Mckeown syndrome 25434003,27413799 Neonatal <1 / 1 000 000 germline Genetics Home Reference:burn-mckeown-syndrome;MedGen:C1837822;OMIM:608572;Orphanet:1200 -19 853329 G T Haplotype 16747 RCV000018231 31786 ELANE NM_001972.3:c.292G>T NP_001963.1:p.Val98Leu NM_001972.3:c.292G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Severe congenital neutropenia autosomal dominant;NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT 17436313,20301705 Autosomal dominant inheritance Infancy <1 / 1 000 000 germline GeneReviews:NBK1533;Genetic Alliance:Severe+congenital+neutropenia+autosomal+dominant/6527;Genetic Testing Registry (GTR):GTR000302019;Genetic Testing Registry (GTR):GTR000309228;Genetic Testing Registry (GTR):GTR000501114;Genetic Testing Registry (GTR):GTR000509067;Genetic Testing Registry (GTR):GTR000512562;Genetic Testing Registry (GTR):GTR000519424;Genetic Testing Registry (GTR):GTR000519601;Genetic Testing Registry (GTR):GTR000528303;Genetic Testing Registry (GTR):GTR000528905;Genetic Testing Registry (GTR):GTR000529138;Genetic Testing Registry (GTR):GTR000552055;MedGen:C1859966;OMIM:130130.0006;OMIM:130130.0007;OMIM:130130.0008;OMIM:130130.0009;OMIM:130130.0010;OMIM:130130.0011;OMIM:202700;Office of Rare Diseases:9558;Orphanet:486 -19 853338 G T Haplotype 16747 RCV000018231 38480 ELANE NM_001972.3:c.301G>T NP_001963.1:p.Val101Leu NM_001972.3:c.301G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Severe congenital neutropenia autosomal dominant;NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT 17436313,20301705 Autosomal dominant inheritance Infancy <1 / 1 000 000 germline GeneReviews:NBK1533;Genetic Alliance:Severe+congenital+neutropenia+autosomal+dominant/6527;Genetic Testing Registry (GTR):GTR000302019;Genetic Testing Registry (GTR):GTR000309228;Genetic Testing Registry (GTR):GTR000501114;Genetic Testing Registry (GTR):GTR000509067;Genetic Testing Registry (GTR):GTR000512562;Genetic Testing Registry (GTR):GTR000519424;Genetic Testing Registry (GTR):GTR000519601;Genetic Testing Registry (GTR):GTR000528303;Genetic Testing Registry (GTR):GTR000528905;Genetic Testing Registry (GTR):GTR000529138;Genetic Testing Registry (GTR):GTR000552055;MedGen:C1859966;OMIM:130130.0006;OMIM:130130.0007;OMIM:130130.0008;OMIM:130130.0009;OMIM:130130.0010;OMIM:130130.0011;OMIM:202700;Office of Rare Diseases:9558;Orphanet:486 -19 863114 T G Haplotype 16565 RCV000018033 31604 CFD NM_001928.3:c.638T>G NP_001919.2:p.Val213Gly NM_001928.3:c.638T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Complement factor d deficiency;COMPLEMENT FACTOR D DEFICIENCY 16527897 Autosomal recessive inheritance germline Genetic Alliance:Complement+factor+d+deficiency/8033;MedGen:C1851396;OMIM:613912 -19 863116 T C Haplotype 16565 RCV000018033 38479 CFD NM_001928.3:c.640T>C NP_001919.2:p.Cys214Arg NM_001928.3:c.640T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Complement factor d deficiency;COMPLEMENT FACTOR D DEFICIENCY 16527897 Autosomal recessive inheritance germline Genetic Alliance:Complement+factor+d+deficiency/8033;MedGen:C1851396;OMIM:613912 -19 5844332 C T Haplotype 17716 RCV000019289 38486 FUT3 NM_000149.3:c.508G>A NP_000140.1:p.Gly170Ser NM_000149.3:c.508G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Le(-) PHENOTYPE;Le(-) PHENOTYPE 8219240 germline OMIM:111100.0001 -19 5844781 A C Haplotype 17716 RCV000019289 32755 FUT3 NM_000149.3:c.59T>G NP_000140.1:p.Leu20Arg NM_000149.3:c.59T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Le(-) PHENOTYPE;Le(-) PHENOTYPE 8219240 germline OMIM:111100.0001 -19 8586353 A G CompoundHeterozygote 279599 RCV000258951 263866 ADAMTS10 NM_030957.3:c.2521T>C NP_112219.3:p.Cys841Arg NM_030957.3:c.2521T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Weill-Marchesani syndrome 1 20301293,25741868 Infancy 1-9 / 100 000 inherited GeneReviews:NBK1114;Genetic Alliance:Weill-Marchesani+syndrome+1/9472;MedGen:C1869114;OMIM:277600;Orphanet:3449 -19 8586611 G A CompoundHeterozygote 279599 RCV000258951 263867 ADAMTS10 NM_030957.3:c.2350C>T NP_112219.3:p.Gln784Ter NM_030957.3:c.2350C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Weill-Marchesani syndrome 1 20301293,25741868 Infancy 1-9 / 100 000 inherited GeneReviews:NBK1114;Genetic Alliance:Weill-Marchesani+syndrome+1/9472;MedGen:C1869114;OMIM:277600;Orphanet:3449 -19 11105552 T TGTGATG Haplotype 250923 RCV000238362 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 LDLR-LOVD, British Heart Foundation Familial hypercholesterolemia 15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,7649546 Autosomal dominant inheritance 1-9 / 1 000 000 germline Genetic Alliance:Familial+Hypercholesterolemia/2746;Genetic Testing Registry (GTR):GTR000203962;Genetic Testing Registry (GTR):GTR000260633;Genetic Testing Registry (GTR):GTR000320944;Genetic Testing Registry (GTR):GTR000321567;Genetic Testing Registry (GTR):GTR000500234;Genetic Testing Registry (GTR):GTR000500235;Genetic Testing Registry (GTR):GTR000500236;Genetic Testing Registry (GTR):GTR000512385;Genetic Testing Registry (GTR):GTR000520922;Genetic Testing Registry (GTR):GTR000521881;Genetic Testing Registry (GTR):GTR000523352;Genetic Testing Registry (GTR):GTR000523354;Genetic Testing Registry (GTR):GTR000525924;Genetic Testing Registry (GTR):GTR000528325;Genetic Testing Registry (GTR):GTR000528380;Genetic Testing Registry (GTR):GTR000528697;Genetic Testing Registry (GTR):GTR000528701;Genetic Testing Registry (GTR):GTR000552211;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 -19 11105561 GGCCCC G Haplotype 250923 RCV000238362 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 LDLR-LOVD, British Heart Foundation Familial hypercholesterolemia 15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,7649546 Autosomal dominant inheritance 1-9 / 1 000 000 germline Genetic Alliance:Familial+Hypercholesterolemia/2746;Genetic Testing Registry (GTR):GTR000203962;Genetic Testing Registry (GTR):GTR000260633;Genetic Testing Registry (GTR):GTR000320944;Genetic Testing Registry (GTR):GTR000321567;Genetic Testing Registry (GTR):GTR000500234;Genetic Testing Registry (GTR):GTR000500235;Genetic Testing Registry (GTR):GTR000500236;Genetic Testing Registry (GTR):GTR000512385;Genetic Testing Registry (GTR):GTR000520922;Genetic Testing Registry (GTR):GTR000521881;Genetic Testing Registry (GTR):GTR000523352;Genetic Testing Registry (GTR):GTR000523354;Genetic Testing Registry (GTR):GTR000525924;Genetic Testing Registry (GTR):GTR000528325;Genetic Testing Registry (GTR):GTR000528380;Genetic Testing Registry (GTR):GTR000528697;Genetic Testing Registry (GTR):GTR000528701;Genetic Testing Registry (GTR):GTR000552211;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 -19 11116197 A C Haplotype 3737 RCV000003935 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Likely pathogenic;Pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations 1 OMIM Familial hypercholesterolemia;FH AARHUS 1439789,15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,8528204,9143924 Autosomal dominant inheritance 1-9 / 1 000 000 germline Genetic Alliance:Familial+Hypercholesterolemia/2746;Genetic Testing Registry (GTR):GTR000203962;Genetic Testing Registry (GTR):GTR000260633;Genetic Testing Registry (GTR):GTR000320944;Genetic Testing Registry (GTR):GTR000321567;Genetic Testing Registry (GTR):GTR000500234;Genetic Testing Registry (GTR):GTR000500235;Genetic Testing Registry (GTR):GTR000500236;Genetic Testing Registry (GTR):GTR000512385;Genetic Testing Registry (GTR):GTR000520922;Genetic Testing Registry (GTR):GTR000521881;Genetic Testing Registry (GTR):GTR000523352;Genetic Testing Registry (GTR):GTR000523354;Genetic Testing Registry (GTR):GTR000525924;Genetic Testing Registry (GTR):GTR000528325;Genetic Testing Registry (GTR):GTR000528380;Genetic Testing Registry (GTR):GTR000528697;Genetic Testing Registry (GTR):GTR000528701;Genetic Testing Registry (GTR):GTR000552211;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 -19 11129515 CTCCTCGTCT C Haplotype 3737 RCV000003935 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM Familial hypercholesterolemia;FH AARHUS 1439789,15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,8528204,9143924 Autosomal dominant inheritance 1-9 / 1 000 000 germline Genetic Alliance:Familial+Hypercholesterolemia/2746;Genetic Testing Registry (GTR):GTR000203962;Genetic Testing Registry (GTR):GTR000260633;Genetic Testing Registry (GTR):GTR000320944;Genetic Testing Registry (GTR):GTR000321567;Genetic Testing Registry (GTR):GTR000500234;Genetic Testing Registry (GTR):GTR000500235;Genetic Testing Registry (GTR):GTR000500236;Genetic Testing Registry (GTR):GTR000512385;Genetic Testing Registry (GTR):GTR000520922;Genetic Testing Registry (GTR):GTR000521881;Genetic Testing Registry (GTR):GTR000523352;Genetic Testing Registry (GTR):GTR000523354;Genetic Testing Registry (GTR):GTR000525924;Genetic Testing Registry (GTR):GTR000528325;Genetic Testing Registry (GTR):GTR000528380;Genetic Testing Registry (GTR):GTR000528697;Genetic Testing Registry (GTR):GTR000528701;Genetic Testing Registry (GTR):GTR000552211;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 -19 18594338 A C Haplotype 5706 RCV000006060 34280 CRLF1 NM_004750.4:c.1121T>G NP_004741.1:p.Leu374Arg NM_004750.4:c.1121T>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788,21370513 Adult <1 / 1 000 000 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 -19 18599720 C T Haplotype 5706 RCV000006060 20745 CRLF1 NM_004750.4:c.242G>A NP_004741.1:p.Arg81His NM_004750.4:c.242G>A:missense variant Benign 0 1 0 no assertion criteria provided 0 OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788,21370513 Adult <1 / 1 000 000 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 -19 35842429 T A Haplotype 6872 RCV000007275 38439 NPHS1 NM_004646.3:c.2456A>T NP_004637.1:p.Asp819Val NM_004646.3:c.2456A>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 Autosomal recessive inheritance Infancy germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;Genetic Testing Registry (GTR):GTR000552033;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 -19 35848142 C T Haplotype 6872 RCV000007275 21911 NPHS1 NM_004646.3:c.1339G>A NP_004637.1:p.Glu447Lys NM_004646.3:c.1339G>A:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 Autosomal recessive inheritance Infancy germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;Genetic Testing Registry (GTR):GTR000552033;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 -19 36097074 C T CompoundHeterozygote 208961 RCV000201333 205491 WDR62 NM_001083961.1:c.2515C>T NP_001077430.1:p.Arg839Trp NM_001083961.1:c.2515C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -19 36102820 C T CompoundHeterozygote 208961 RCV000201333 205492 WDR62 NM_001083961.1:c.3304C>T NP_001077430.1:p.Gln1102Ter NM_001083961.1:c.3304C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire Abnormality of neuronal migration;Malformation of Cortical Development maternal HP:HP:0002269;Human Phenotype Ontology:HP:0002269;Human Phenotype Ontology:HP:0007317;MedGen:CN002060 -19 38458154 C T CompoundHeterozygote 224663 RCV000226744 226483 RYR1 NM_000540.2:c.2029C>T NP_000531.2:p.Gln677Ter NM_000540.2:c.2029C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Central core disease 18253926,20301565,21989361,22009146,23788249,27854218 Sporadic 1-9 / 1 000 000;The precise incidence and prevalence of CCD, considered to be the most frequently occurring congenital myopathy, are unknown. unknown GeneReviews:NBK1391;Genetic Alliance:Central+Core+Disease/1190;Genetic Testing Registry (GTR):GTR000332149;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508454;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000519455;Genetic Testing Registry (GTR):GTR000528322;Genetic Testing Registry (GTR):GTR000552206;MedGen:C0751951;OMIM:117000;Office of Rare Diseases:6014;Orphanet:597;SNOMED CT:43152001 -19 38489352 AAG A Haplotype 29876 RCV000022757 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467,20839240,22009146,23788249 Antenatal germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 -19 38496466 C T CompoundHeterozygote 224660 RCV000233721 169564 RYR1 NM_000540.2:c.6721C>T NP_000531.2:p.Arg2241Ter NM_000540.2:c.6721C>T:nonsense Likely benign;Pathogenic 1 1 1 criteria provided, conflicting interpretations 1 Center for Genetic Medicine Research,Children's National Medical Center Central core disease 18312400,20301565,21989361,22009146,23788249,26633545,27854218 Sporadic 1-9 / 1 000 000;The precise incidence and prevalence of CCD, considered to be the most frequently occurring congenital myopathy, are unknown. unknown GeneReviews:NBK1391;Genetic Alliance:Central+Core+Disease/1190;Genetic Testing Registry (GTR):GTR000332149;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508454;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000519455;Genetic Testing Registry (GTR):GTR000528322;Genetic Testing Registry (GTR):GTR000552206;MedGen:C0751951;OMIM:117000;Office of Rare Diseases:6014;Orphanet:597;SNOMED CT:43152001 -19 38504319 C T Haplotype 12985 RCV000013857 28024 RYR1 NM_000540.2:c.8026C>T NP_000531.2:p.Arg2676Trp NM_000540.2:c.8026C>T:missense variant Uncertain significance;not provided 0 0 0 criteria provided, single submitter 1 OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627,14870754,16163667,16917943,20301325,23788249,25356965,27854360 Autosomal dominant inheritance All ages germline GeneReviews:NBK1146;Genetic Testing Registry (GTR):GTR000246332;Genetic Testing Registry (GTR):GTR000501319;Genetic Testing Registry (GTR):GTR000501425;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508750;Genetic Testing Registry (GTR):GTR000520991;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 -19 38505358 C G Haplotype 12985 RCV000013857 38459 RYR1 NM_000540.2:c.8360C>G NP_000531.2:p.Thr2787Ser NM_000540.2:c.8360C>G:missense variant Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts 2 OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627,14870754,16163667,16917943,20301325,23788249,25356965,27854360 Autosomal dominant inheritance All ages germline GeneReviews:NBK1146;Genetic Testing Registry (GTR):GTR000246332;Genetic Testing Registry (GTR):GTR000501319;Genetic Testing Registry (GTR):GTR000501425;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508750;Genetic Testing Registry (GTR):GTR000520991;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 -19 38512253 T C Haplotype 29876 RCV000022757 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467,20839240,22009146,23788249 Antenatal germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 -19 38580382 G A CompoundHeterozygote 224663 RCV000226744 38832 RYR1 NM_000540.2:c.14524G>A NP_000531.2:p.Val4842Met NM_000540.2:c.14524G>A:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations 1 Center for Genetic Medicine Research,Children's National Medical Center Central core disease 18253926,20301565,21989361,22009146,23788249,27854218 Sporadic 1-9 / 1 000 000;The precise incidence and prevalence of CCD, considered to be the most frequently occurring congenital myopathy, are unknown. unknown GeneReviews:NBK1391;Genetic Alliance:Central+Core+Disease/1190;Genetic Testing Registry (GTR):GTR000332149;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508454;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000519455;Genetic Testing Registry (GTR):GTR000528322;Genetic Testing Registry (GTR):GTR000552206;MedGen:C0751951;OMIM:117000;Office of Rare Diseases:6014;Orphanet:597;SNOMED CT:43152001 -19 38580503 C T CompoundHeterozygote 224660 RCV000233721 136830 RYR1 NM_000540.2:c.14645C>T NP_000531.2:p.Thr4882Met NM_000540.2:c.14645C>T:missense variant not provided 0 0 0 no assertion provided 0 Center for Genetic Medicine Research,Children's National Medical Center Central core disease 18312400,20301565,21989361,22009146,23788249,26633545,27854218 Sporadic 1-9 / 1 000 000;The precise incidence and prevalence of CCD, considered to be the most frequently occurring congenital myopathy, are unknown. unknown GeneReviews:NBK1391;Genetic Alliance:Central+Core+Disease/1190;Genetic Testing Registry (GTR):GTR000332149;Genetic Testing Registry (GTR):GTR000502285;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508454;Genetic Testing Registry (GTR):GTR000508753;Genetic Testing Registry (GTR):GTR000519455;Genetic Testing Registry (GTR):GTR000528322;Genetic Testing Registry (GTR):GTR000552206;MedGen:C0751951;OMIM:117000;Office of Rare Diseases:6014;Orphanet:597;SNOMED CT:43152001 -19 41860817 G T Haplotype 6319 RCV000033188 21358 RPS19 NM_001022.3:c.43G>T NP_001013.1:p.Val15Phe NM_001022.3:c.43G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610 Autosomal dominant inheritance Childhood 1-9 / 1 000 000 germline Genetic Alliance:Diamond-Blackfan+anemia+1/8226;Genetic Testing Registry (GTR):GTR000320768;Genetic Testing Registry (GTR):GTR000510425;Genetic Testing Registry (GTR):GTR000520412;Genetic Testing Registry (GTR):GTR000525856;MedGen:C2676137;OMIM:105650;Orphanet:124 -19 41861204 C T Haplotype 6319 RCV000033188 38387 RPS19 NM_001022.3:c.164C>T NP_001013.1:p.Thr55Met NM_001022.3:c.164C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610 Autosomal dominant inheritance Childhood 1-9 / 1 000 000 germline Genetic Alliance:Diamond-Blackfan+anemia+1/8226;Genetic Testing Registry (GTR):GTR000320768;Genetic Testing Registry (GTR):GTR000510425;Genetic Testing Registry (GTR):GTR000520412;Genetic Testing Registry (GTR):GTR000525856;MedGen:C2676137;OMIM:105650;Orphanet:124 -19 44907777 G A Haplotype 17867 RCV000019453 32888 APOE NM_000041.3:c.61G>A NP_000032.1:p.Glu21Lys NM_000041.3:c.61G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Hypercholesterolemia and hypertriglyceridemia, type III;HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III 1713245 germline MedGen:C4015875 -19 44907807 G A Haplotype 17860;17867 RCV000019443;RCV000019453 32899 APOE NM_000041.3:c.91G>A NP_000032.1:p.Glu31Lys NM_000041.3:c.91G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA;Hypercholesterolemia and hypertriglyceridemia, type III;HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III 1361196,1674745,22962670;1713245 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005;MedGen:C4015875 -19 44907853 T C Haplotype 17870 RCV000019456 32909 APOE NM_000041.3:c.137T>C NP_000032.1:p.Leu46Pro NM_000041.3:c.137T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM APOE4(-)-FREIBURG;APOE4(-)-FREIBURG 21500874 germline OMIM:107741.0023 -19 44908601 C G Haplotype 17872 RCV000019458 32911 APOE NM_000041.3:c.305C>G NP_000032.1:p.Pro102Arg NM_000041.3:c.305C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM APOE4 VARIANT;APOE4 VARIANT 18583979,21500874,2341812,3585172 germline OMIM:107741.0025;OMIM:107741.0028 -19 44908645 G A Haplotype 17873 RCV000019459 32912 APOE NM_000041.3:c.349G>A NP_000032.1:p.Ala117Thr NM_000041.3:c.349G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM APOE3 VARIANT;APOE3 VARIANT 18583979,6327682 germline OMIM:107741.0026 -19 44908684 T C Haplotype 17855;17869;17870;17872 RCV000019438;RCV000019455;RCV000019456;RCV000019458 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic;other 1 0 0 no assertion criteria provided 0 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;21500874,22962670,8488843;21500874;18583979,21500874,2341812,3585172 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005;OMIM:107741.0023;OMIM:107741.0025;OMIM:107741.0028 -19 44908730 G A Haplotype 17856 RCV000019439 32895 APOE NM_000041.3:c.434G>A NP_000032.1:p.Gly145Asp NM_000041.3:c.434G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1 6323533 germline -19 44908774 C T Haplotype 17855 RCV000019438 38488 APOE NM_000041.3:c.478C>T NP_000032.1:p.Arg160Cys NM_000041.3:c.478C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT 1730728,21500874,22962670,25333069,2539388,6860421 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 -19 44908783 C T Haplotype 17860 RCV000019443 32890 APOE NM_000041.3:c.487C>T NP_000032.1:p.Arg163Cys NM_000041.3:c.487C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196,1674745,22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 -19 44908804 G C Haplotype 17873 RCV000019459 38495 APOE NM_000041.3:c.508G>C NP_000032.1:p.Ala170Pro NM_000041.3:c.508G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM APOE3 VARIANT;APOE3 VARIANT 18583979,6327682 germline OMIM:107741.0026 -19 44908822 C T Haplotype 17856;17866;17868 RCV000019439;RCV000019452;RCV000019454 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant drug response 0 0 0 reviewed by expert panel 3 OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1;Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 6323533;22962670,8664327;22962670,8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 -19 44909021 G A Haplotype 17866 RCV000019452 38490 APOE NM_000041.3:c.725G>A NP_000032.1:p.Arg242Gln NM_000041.3:c.725G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III 22962670,8664327 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 -19 44909057 T A Haplotype 17868 RCV000019454 38491 APOE NM_000041.3:c.761T>A NP_000032.1:p.Val254Glu NM_000041.3:c.761T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 22962670,8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 -19 44909080 G A Haplotype 17854 RCV000019435 32893 APOE NM_000041.3:c.784G>A NP_000032.1:p.Glu262Lys NM_000041.3:c.784G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7 22962670,2470732,2738044,7586659 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 -19 44909083 G A Haplotype 17854 RCV000019435 38487 APOE NM_000041.3:c.787G>A NP_000032.1:p.Glu263Lys NM_000041.3:c.787G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7 22962670,2470732,2738044,7586659 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 -19 44909101 C G Haplotype 17869 RCV000019455 38492 APOE NM_000041.3:c.805C>G NP_000032.1:p.Arg269Gly NM_000041.3:c.805C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 21500874,22962670,8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 -19 46755524 C A Phase unknown 224674 RCV000226653 226485 FKRP NM_024301.4:c.74C>A NP_077277.1:p.Ser25Ter NM_024301.4:c.74C>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 Autosomal recessive inheritance Adolescent 1-9 / 100 000 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;Genetic Testing Registry (GTR):GTR000501782;Genetic Testing Registry (GTR):GTR000502397;Genetic Testing Registry (GTR):GTR000502450;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520475;Genetic Testing Registry (GTR):GTR000520476;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 -19 46755524 CGT C Phase unknown 224674 RCV000226653 226486 FKRP NM_024301.4:c.76_77delTG NP_077277.1:p.Trp26Alafs NM_024301.4:c.76_77delTG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 Autosomal recessive inheritance Adolescent 1-9 / 100 000 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;Genetic Testing Registry (GTR):GTR000501782;Genetic Testing Registry (GTR):GTR000502397;Genetic Testing Registry (GTR):GTR000502450;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520475;Genetic Testing Registry (GTR):GTR000520476;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 -19 46756276 C A Phase unknown 224674 RCV000226653 19260 FKRP NM_024301.4:c.826C>A NP_077277.1:p.Leu276Ile NM_024301.4:c.826C>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 Autosomal recessive inheritance Adolescent 1-9 / 100 000 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;Genetic Testing Registry (GTR):GTR000501782;Genetic Testing Registry (GTR):GTR000502397;Genetic Testing Registry (GTR):GTR000502450;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520475;Genetic Testing Registry (GTR):GTR000520476;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 -19 48965326 C T Haplotype 16477 RCV000017941 31516 FTL NM_000146.3:c.-182C>T NM_000146.3:c.-182C>T:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845,9226182 All ages <1 / 1 000 000 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 -19 48965330 T G Haplotype 16477 RCV000017941 260732 FTL NM_000146.3:c.-178T>G NM_000146.3:c.-178T>G:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845,9226182 All ages <1 / 1 000 000 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 -19 49016626 A G Haplotype 14414 RCV000015495 38465 LHB NM_000894.2:c.104T>C NP_000885.1:p.Ile35Thr NM_000894.2:c.104T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775,10323405,10739843,12620433,1727817,7714098,7904610,8784083 germline OMIM:152780.0002 -19 49016648 A G Haplotype 14414 RCV000015495 29453 LHB NM_000894.2:c.82T>C NP_000885.1:p.Trp28Arg NM_000894.2:c.82T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775,10323405,10739843,12620433,1727817,7714098,7904610,8784083 germline OMIM:152780.0002 -20 4699605 A G Haplotype 13399 RCV000014336;RCV000014337 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 0 1 0 criteria provided, single submitter 1 OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE;Fatal familial insomnia 12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20298421,20301407,7709737,9751723;12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20301407,7709737,9751723 Adult <1 / 1 000 000 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 -20 4699752 G A Haplotype 13399 RCV000014336;RCV000014337 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 1 0 0 no assertion criteria provided 0 OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE;Fatal familial insomnia 12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20298421,20301407,7709737,9751723;12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20301407,7709737,9751723 Adult <1 / 1 000 000 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 -20 10412791 C A Haplotype 5308 RCV000005632 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 Uncertain significance 0 0 0 criteria provided, single submitter 1 OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661,16104012,20301675 Childhood germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 -20 10413265 G A Haplotype 5308 RCV000005632 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661,16104012,20301675 Childhood germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 -20 17494579 GA G CompoundHeterozygote 217356 RCV000203387 213997 BFSP1 NM_001195.4:c.1492delT NP_001186.1:p.Ser498Leufs NM_001195.4:c.1492delT:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 biparental 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 -20 17498964 A G CompoundHeterozygote 217356 RCV000203387 213998 BFSP1 NM_001195.4:c.812T>C NP_001186.1:p.Ile271Thr NM_001195.4:c.812T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 biparental 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 -20 41114115 A G Haplotype 16773 RCV000018261 31812 PLCG1-AS1 NM_003286.3:c.1598A>G NP_003277.1:p.Asp533Gly NM_003286.3:c.1598A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM DNA topoisomerase I, camptothecin-resistant;DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT 1849260 germline MedGen:C4016020 -20 44620391 G A CompoundHeterozygote 216886 RCV000200442 16998 ADA NM_000022.3:c.986C>T NP_000013.2:p.Ala329Val NM_000022.3:c.986C>T:missense variant;NR_136160.1:n.1072C>T:non-coding transcript variant Pathogenic;not provided 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Severe combined immunodeficiency due to ADA deficiency;Severe combined immunodeficiency due to ADA deficiency 20301656,25326637,3182793 Infancy 1-9 / 1 000 000 unknown GeneReviews:NBK1483;Genetic Alliance:Adenosine+Deaminase+Deficiency/228;MedGen:C1863236;OMIM:102700;Office of Rare Diseases:5748;Orphanet:277 -20 44622828 C T CompoundHeterozygote 216886 RCV000200442 213657 ADA NM_000022.3:c.780+1G>A NM_000022.3:c.780+1G>A:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Severe combined immunodeficiency due to ADA deficiency;Severe combined immunodeficiency due to ADA deficiency 20301656,25326637,3182793 Infancy 1-9 / 1 000 000 unknown GeneReviews:NBK1483;Genetic Alliance:Adenosine+Deaminase+Deficiency/228;MedGen:C1863236;OMIM:102700;Office of Rare Diseases:5748;Orphanet:277 -20 44626502 G C Haplotype 1981 RCV000002058 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -20 44626528 T C Haplotype 1981 RCV000002058 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -20 63685798 T C CompoundHeterozygote 216994 RCV000195729 213660 RTEL1-TNFRSF6B NM_032957.4:c.1346T>C NP_116575.3:p.Ile449Thr NM_032957.4:c.1346T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 UCLA Clinical Genomics Center, UCLA Dyskeratosis congenita, autosomal recessive, 5;Dyskeratosis congenita, autosomal recessive, 5 25326637 unknown MedGen:C3554656;OMIM:615190 -20 63693247 C T CompoundHeterozygote 216994 RCV000195729 76347 RTEL1-TNFRSF6B NM_032957.4:c.3028C>T NP_116575.3:p.Arg1010Ter NM_032957.4:c.3028C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 UCLA Clinical Genomics Center, UCLA Dyskeratosis congenita, autosomal recessive, 5;Dyskeratosis congenita, autosomal recessive, 5 25326637 unknown MedGen:C3554656;OMIM:615190 -21 36461442 A T Haplotype 375673 RCV000417144 19890 CLDN14 NM_012130.3:c.254T>A NP_036262.1:p.Val85Asp NM_001146077.1:c.254T>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 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 -21 44901527 C T CompoundHeterozygote 223391 RCV000209072 106624 ITGB2 NM_000211.4:c.706G>A NP_000202.3:p.Gly236Arg NM_000211.4:c.706G>A:missense variant Likely pathogenic 1 0 0 no assertion criteria provided 0 Genomic Research Center,Shahid Beheshti University of Medical Sciences Leukocyte adhesion deficiency type 1;Omphalitis;Leukocyte adhesion deficiency type 1 26639818 Childhood inherited Genetic Alliance:Leukocyte+adhesion+deficiency+type+1/4197;MedGen:C1861766;OMIM:116920;Office of Rare Diseases:6893;Orphanet:2968;Orphanet:99842 -21 44901656 T TG CompoundHeterozygote 223391 RCV000209072 106622 ITGB2 NM_000211.4:c.576dupC NP_000202.3:p.Asn193Glnfs NM_000211.4:c.576dupC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 Genomic Research Center,Shahid Beheshti University of Medical Sciences Leukocyte adhesion deficiency type 1;Omphalitis;Leukocyte adhesion deficiency type 1 26639818 Childhood inherited Genetic Alliance:Leukocyte+adhesion+deficiency+type+1/4197;MedGen:C1861766;OMIM:116920;Office of Rare Diseases:6893;Orphanet:2968;Orphanet:99842 -21 46131981 G A Haplotype 29642 RCV000022490 38596 COL6A2 NM_001849.3:c.2489G>A NP_001840.3:p.Arg830Gln NM_001849.3:c.2489G>A:missense variant Likely pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations 1 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 -21 46132019 C T Haplotype 29642 RCV000022490 38597 COL6A2 NM_001849.3:c.2527C>T NP_001840.3:p.Arg843Trp NM_001849.3:c.2527C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 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 -22 23767463 C G Haplotype 180222;204293 RCV000157071;RCV000192234 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM;GeneReviews Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783,9324076;2519378 Childhood <1 / 1 000 000 germline MedGen:CN225582;OMIM:616209;Orphanet:457050 -22 23767592 G C Haplotype 204293 RCV000192234 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 GeneReviews Myopathy, isolated mitochondrial, autosomal dominant;Myopathy, isolated mitochondrial, autosomal dominant 2519378 Childhood <1 / 1 000 000 germline MedGen:CN225582;OMIM:616209;Orphanet:457050 -22 23767592 G T Haplotype 180222 RCV000157071 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783,9324076 Childhood <1 / 1 000 000 germline MedGen:CN225582;OMIM:616209;Orphanet:457050 -22 25229472 C A Haplotype 217348 RCV000203383 214001 CRYBB2 NM_000496.2:c.343C>A NP_000487.1:p.Pro115Thr NM_000496.2:c.343C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -22 25229484 G A Haplotype 217348 RCV000203383 214002 CRYBB2 NM_000496.2:c.355G>A NP_000487.1:p.Gly119Arg NM_000496.2:c.355G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 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 -22 36265860 A G Haplotype 6080 RCV000006453 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant not provided 0 0 0 no assertion provided 0 OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424,24206458 Childhood germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 -22 36265988 T G Haplotype 6080 RCV000006453 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant not provided 0 0 0 no assertion provided 0 OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424,24206458 Childhood germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 -22 38115619 C T CompoundHeterozygote 202187 RCV000184033 198645 PLA2G6 NM_003560.2:c.1942G>A NP_003551.2:p.Gly648Arg NM_003560.2:c.1942G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Infantile neuroaxonal dystrophy;Infantile neuroaxonal dystrophy 16783378,20301718 Autosomal recessive inheritance Infancy The frequency of NBIA is estimated to be approximately 1-3/1,000,000 individuals. germline GeneReviews:NBK1675;Genetic Alliance:Neuroaxonal+dystrophy%2C+infantile/5159;Genetic Testing Registry (GTR):GTR000298765;Genetic Testing Registry (GTR):GTR000500141;Genetic Testing Registry (GTR):GTR000506323;Genetic Testing Registry (GTR):GTR000506324;Genetic Testing Registry (GTR):GTR000508839;Genetic Testing Registry (GTR):GTR000508840;Genetic Testing Registry (GTR):GTR000512547;Genetic Testing Registry (GTR):GTR000520408;Genetic Testing Registry (GTR):GTR000522334;Genetic Testing Registry (GTR):GTR000524566;Genetic Testing Registry (GTR):GTR000528476;Genetic Testing Registry (GTR):GTR000528698;Genetic Testing Registry (GTR):GTR000552187;Genetic Testing Registry (GTR):GTR000552189;Genetic Testing Registry (GTR):GTR000552190;MedGen:C0270724;OMIM:256600;OMIM:603604.0001;OMIM:603604.0003;OMIM:603604.0004;OMIM:603604.0006;OMIM:603604.0007;OMIM:603604.0014;OMIM:603604.0015;Office of Rare Diseases:3957;Orphanet:35069;SNOMED CT:52713000 -22 38126446 AG A CompoundHeterozygote 202187 RCV000184033 169797 PLA2G6 NM_003560.2:c.1351delC NP_003551.2:p.Leu451Tyrfs NM_003560.2:c.1351delC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 Mendelics Analise Genomica Infantile neuroaxonal dystrophy;Infantile neuroaxonal dystrophy 16783378,20301718 Autosomal recessive inheritance Infancy The frequency of NBIA is estimated to be approximately 1-3/1,000,000 individuals. germline GeneReviews:NBK1675;Genetic Alliance:Neuroaxonal+dystrophy%2C+infantile/5159;Genetic Testing Registry (GTR):GTR000298765;Genetic Testing Registry (GTR):GTR000500141;Genetic Testing Registry (GTR):GTR000506323;Genetic Testing Registry (GTR):GTR000506324;Genetic Testing Registry (GTR):GTR000508839;Genetic Testing Registry (GTR):GTR000508840;Genetic Testing Registry (GTR):GTR000512547;Genetic Testing Registry (GTR):GTR000520408;Genetic Testing Registry (GTR):GTR000522334;Genetic Testing Registry (GTR):GTR000524566;Genetic Testing Registry (GTR):GTR000528476;Genetic Testing Registry (GTR):GTR000528698;Genetic Testing Registry (GTR):GTR000552187;Genetic Testing Registry (GTR):GTR000552189;Genetic Testing Registry (GTR):GTR000552190;MedGen:C0270724;OMIM:256600;OMIM:603604.0001;OMIM:603604.0003;OMIM:603604.0004;OMIM:603604.0006;OMIM:603604.0007;OMIM:603604.0014;OMIM:603604.0015;Office of Rare Diseases:3957;Orphanet:35069;SNOMED CT:52713000 -22 40361619 G C CompoundHeterozygote 208488 RCV000190501 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 not reported for simple variant 0 0 0 no assertion for the individual variant 0 Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474,23519317 Autosomal recessive inheritance Childhood <1 / 1 000 000 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;Genetic Testing Registry (GTR):GTR000506349;Genetic Testing Registry (GTR):GTR000514881;Genetic Testing Registry (GTR):GTR000515526;Genetic Testing Registry (GTR):GTR000520979;Genetic Testing Registry (GTR):GTR000520995;Genetic Testing Registry (GTR):GTR000520996;Genetic Testing Registry (GTR):GTR000529343;Genetic Testing Registry (GTR):GTR000551668;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 -22 40364965 G A CompoundHeterozygote 208488 RCV000190501 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 1 0 0 criteria provided, multiple submitters, no conflicts 2 Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474,23519317 Autosomal recessive inheritance Childhood <1 / 1 000 000 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;Genetic Testing Registry (GTR):GTR000506349;Genetic Testing Registry (GTR):GTR000514881;Genetic Testing Registry (GTR):GTR000515526;Genetic Testing Registry (GTR):GTR000520979;Genetic Testing Registry (GTR):GTR000520995;Genetic Testing Registry (GTR):GTR000520996;Genetic Testing Registry (GTR):GTR000529343;Genetic Testing Registry (GTR):GTR000551668;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 -22 41507837 C G CompoundHeterozygote 253012 RCV000169730 187198 ACO2 NM_001098.2:c.220C>G NP_001089.1:p.Leu74Val NM_001098.2:c.220C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Optic atrophy 9;OPTIC ATROPHY 9 (1 family) 25351951 germline MedGen:CN229336;OMIM:616289 -22 41527315 G A CompoundHeterozygote 253012 RCV000169730 187199 POLR3H NM_001098.2:c.1981G>A NP_001089.1:p.Gly661Arg NM_001098.2:c.1981G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Optic atrophy 9;OPTIC ATROPHY 9 (1 family) 25351951 germline MedGen:CN229336;OMIM:616289 -22 42126611 C G Haplotype 16895 RCV000018391 38485 CYP2D6 NM_000106.5:c.1457G>C NP_000097.3:p.Ser486Thr NM_000106.5:c.1457G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Debrisoquine, ultrarapid metabolism of;DEBRISOQUINE, ULTRARAPID METABOLISM OF 7903454,7927337 germline MedGen:C1837157 -22 42127941 G A Haplotype 16895 RCV000018391 31934 CYP2D6 NM_000106.5:c.886C>T NP_000097.3:p.Arg296Cys NM_000106.5:c.886C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Debrisoquine, ultrarapid metabolism of;DEBRISOQUINE, ULTRARAPID METABOLISM OF 7903454,7927337 germline MedGen:C1837157 -X 13750693 TCTCAAACACTTGGG T Haplotype 11542 RCV000012298 76962 OFD1 NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant 0 OMIM Oral-facial-digital syndrome;OROFACIODIGITAL SYNDROME I 15221448,20301367 X-linked inheritance Infancy 1-9 / 1 000 000;Estimates range from 1:250,000 to 1:50,000. germline GeneReviews:NBK1188;Genetic Alliance:Orofaciodigital+syndromes/5428;Genetic Testing Registry (GTR):GTR000322591;Genetic Testing Registry (GTR):GTR000500143;Genetic Testing Registry (GTR):GTR000500190;Genetic Testing Registry (GTR):GTR000501489;Genetic Testing Registry (GTR):GTR000501490;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000514882;Genetic Testing Registry (GTR):GTR000519097;Genetic Testing Registry (GTR):GTR000520051;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528542;Genetic Testing Registry (GTR):GTR000552165;MedGen:C1510460;OMIM:311200;Office of Rare Diseases:4121;Orphanet:2750;SNOMED CT:52868006 +chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance pathogenic benign conflicted review_status last_evaluated gold_stars all_submitters all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs +1 7809893 C G Haplotype 224889 RCV000210468 226735 PER3 NM_001289862.1:c.1243C>G NP_001276791.1:p.Pro415Ala NM_001289862.1:c.1243C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 17, 2016 0 OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 Adolescent germline MedGen:CN235882;OMIM:616882;Orphanet:164736 +1 7809900 A G Haplotype 224889 RCV000210468 226734 PER3 NM_001289862.1:c.1250A>G NP_001276791.1:p.His417Arg NM_001289862.1:c.1250A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 17, 2016 0 OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 Adolescent germline MedGen:CN235882;OMIM:616882;Orphanet:164736 +1 7984971 G A Haplotype 60700 RCV000007484 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 08, 2012 0 OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358,20301402,23279440 Adult 1-5 / 10 000 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 +1 11948035 C T CompoundHeterozygote 218321 RCV000202446 215016 PLOD1 NM_000302.3:c.136C>T NP_000293.2:p.Arg46Cys NM_000302.3:c.136C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 20, 2015 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Ehlers-Danlos syndrome, hydroxylysine-deficient 15979919,20301635 Autosomal recessive inheritance Infancy 1-9 / 100 000;1:100,000 live births. Carrier frequency is estimated to be 1:150. loss of function germline GeneReviews:NBK1462;Genetic Alliance:Ehlers-Danlos+syndrome%2C+hydroxylysine-deficient/8298;Genetic Alliance:Nevo+syndrome/5215;Genetic Testing Registry (GTR):GTR000327667;Genetic Testing Registry (GTR):GTR000500398;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000501090;Genetic Testing Registry (GTR):GTR000509007;Genetic Testing Registry (GTR):GTR000510821;Genetic Testing Registry (GTR):GTR000514633;Genetic Testing Registry (GTR):GTR000515704;Genetic Testing Registry (GTR):GTR000522328;Genetic Testing Registry (GTR):GTR000525812;Genetic Testing Registry (GTR):GTR000529376;MedGen:C0268342;OMIM:153454.0001;OMIM:153454.0002;OMIM:153454.0003;OMIM:153454.0004;OMIM:153454.0005;OMIM:153454.0006;OMIM:153454.0007;OMIM:153454.0008;OMIM:153454.0009;OMIM:153454.0010;OMIM:225400;Orphanet:1900;SNOMED CT:25606004 +1 11974699 C T CompoundHeterozygote 218321 RCV000202446 215017 PLOD1 NM_000302.3:c.2075C>T NP_000293.2:p.Pro692Leu NM_000302.3:c.2075C>T:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Ehlers-Danlos syndrome, hydroxylysine-deficient 15979919,20301635 Autosomal recessive inheritance Infancy 1-9 / 100 000;1:100,000 live births. Carrier frequency is estimated to be 1:150. loss of function germline GeneReviews:NBK1462;Genetic Alliance:Ehlers-Danlos+syndrome%2C+hydroxylysine-deficient/8298;Genetic Alliance:Nevo+syndrome/5215;Genetic Testing Registry (GTR):GTR000327667;Genetic Testing Registry (GTR):GTR000500398;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000501090;Genetic Testing Registry (GTR):GTR000509007;Genetic Testing Registry (GTR):GTR000510821;Genetic Testing Registry (GTR):GTR000514633;Genetic Testing Registry (GTR):GTR000515704;Genetic Testing Registry (GTR):GTR000522328;Genetic Testing Registry (GTR):GTR000525812;Genetic Testing Registry (GTR):GTR000529376;MedGen:C0268342;OMIM:153454.0001;OMIM:153454.0002;OMIM:153454.0003;OMIM:153454.0004;OMIM:153454.0005;OMIM:153454.0006;OMIM:153454.0007;OMIM:153454.0008;OMIM:153454.0009;OMIM:153454.0010;OMIM:225400;Orphanet:1900;SNOMED CT:25606004 +1 25301061 C G Haplotype 202166;208474 RCV000184007;RCV000190496 198596 RHD NM_016124.4:c.602C>G NP_057208.2:p.Thr201Arg NM_016124.4:c.602C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 +1 25301552 T G Haplotype 202166;208474 RCV000184007;RCV000190496 198597 RHD NM_016124.4:c.667T>G NP_057208.2:p.Phe223Val NM_016124.4:c.667T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 +1 25301582 G C Haplotype 208474 RCV000190496 204995 RHD NM_016124.4:c.697G>C NP_057208.2:p.Glu233Gln NM_016124.4:c.697G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 +1 25301618 G C Haplotype 208474 RCV000190496 204996 RHD NM_016124.4:c.733G>C NP_057208.2:p.Val245Leu NM_016124.4:c.733G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 +1 25301629 C T Haplotype 202166;208474 RCV000184007;RCV000190496 198598 RHD NM_016124.4:c.744C>T NP_057208.2:p.Ser248= NM_016124.4:c.744C>T:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 +1 25306613 G A Haplotype 202166 RCV000184007 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 reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 +1 25306681 T C Haplotype 202166 RCV000184007 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 reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 +1 25306719 G A Haplotype 202166 RCV000184007 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 reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 +1 25375385 C T Haplotype 208474 RCV000190496 204997 RHD not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Colsan,Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 +1 25420739 G C Haplotype 17709 RCV000019283 32748 RHCE NM_020485.4:c.48G= NP_065231.3:p.Trp16= NM_020485.4:c.48G=:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 1993 0 OMIM RH C/c POLYMORPHISM;RH C/c POLYMORPHISM 8220426 germline OMIM:111700.0002 +1 36471472 TC T CompoundHeterozygote 161983 RCV000149409 171705 CSF3R NM_156039.3:c.1245delG NP_724781.1:p.Thr416Profs NM_156039.3:c.1245delG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jun 12, 2014 0 Klein lab,Ludwig-Maximilians-University Severe congenital neutropenia;Severe congenital neutropenia 24753537 Autosomal dominant inheritance germline Genetics Home Reference:severe-congenital-neutropenia;MedGen:C1853118;OMIM:PS202700;Orphanet:42738 +1 53210729 T G Haplotype 30118 RCV000023026 39073 CPT2 NM_000098.2:c.1055T>G NP_000089.1:p.Phe352Cys NM_000098.2:c.1055T>G:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315,18306170,20934285,21697855 Childhood germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 +1 53210776 G A Haplotype 30118 RCV000023026 39074 CPT2 NM_000098.2:c.1102G>A NP_000089.1:p.Val368Ile NM_000098.2:c.1102G>A:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315,18306170,20934285,21697855 Childhood germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 +1 53210911 CAG C Haplotype 60702 RCV000202553 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Sep 13, 2016 2 GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476,20301431,25173338 Autosomal recessive inheritance germline GeneReviews:NBK1253;Genetic Testing Registry (GTR):GTR000530033;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552216;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 +1 53211016 T C Haplotype 60702 RCV000202553 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Pathogenic;other 1 0 0 criteria provided, single submitter Mar 02, 2015 1 GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476,20301431,25173338 Autosomal recessive inheritance germline GeneReviews:NBK1253;Genetic Testing Registry (GTR):GTR000530033;Genetic Testing Registry (GTR):GTR000552033;Genetic Testing Registry (GTR):GTR000552216;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 +1 54865405 C G Haplotype 4368 RCV000004616 38433 DHCR24 NM_014762.3:c.918G>C NP_055577.1:p.Lys306Asn NM_014762.3:c.918G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 01, 2001 0 OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 Antenatal <1 / 1 000 000 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 +1 54865442 T G Haplotype 4368 RCV000004616 19407 DHCR24 NM_014762.3:c.881A>C NP_055577.1:p.Asn294Thr NM_014762.3:c.881A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 01, 2001 0 OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 Antenatal <1 / 1 000 000 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 +1 94001992 C G Haplotype 236131 RCV000408516 22923 ABCA4 NM_000350.2:c.6148G>C NP_000341.2:p.Val2050Leu NM_000350.2:c.6148G>C:missense variant Likely benign;Likely pathogenic;Pathogenic;Uncertain significance;not provided 1 1 1 criteria provided, conflicting interpretations Dec 29, 2016 1 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 94005499 C T Haplotype 236068 RCV000408532 105317 ABCA4 NM_000350.2:c.6089G>A NP_000341.2:p.Arg2030Gln NM_000350.2:c.6089G>A:missense variant Likely pathogenic;Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts Sep 23, 2016 2 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 94014622 G T Haplotype 236131 RCV000408516 105260 ABCA4 NM_000350.2:c.5381C>A NP_000341.2:p.Ala1794Asp NM_000350.2:c.5381C>A:missense variant not provided 0 0 0 no assertion provided Jan 01, 2016 0 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 94019625 A C Haplotype 236092 RCV000408474 237656 ABCA4 NM_000350.2:c.5153T>G NP_000341.2:p.Val1718Gly NM_000350.2:c.5153T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2016 0 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 94027417 G A Haplotype 225694 RCV000211040 227509 ABCA4 NM_000350.2:c.4539+2028C>T NM_000350.2:c.4539+2028C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 01, 2016 1 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198,28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 94042800 T A Haplotype 236091 RCV000408579 237681 ABCA4 NM_000350.2:c.3289A>T NP_000341.2:p.Arg1097Ter NM_000350.2:c.3289A>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2016 0 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 94043413 G A Haplotype 7901 RCV000008358;RCV000008359 22933 ABCA4 NM_000350.2:c.3113C>T NP_000341.2:p.Ala1038Val NM_000350.2:c.3113C>T:missense variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts Jan 01, 2016 2 OMIM Stargardt disease 1;STARGARDT DISEASE 1;Cone-rod dystrophy 3 10958761,10958763,12796258,16103129,28118664 Autosomal recessive inheritance Adolescent;Childhood 1-5 / 10 000;1-9 / 100 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;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 +1 94051698 C G Haplotype 236091;236092 RCV000408579;RCV000408474 22918 ABCA4 NM_000350.2:c.2588G>C NP_000341.2:p.Gly863Ala NM_000350.2:c.2588G>C:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations Sep 22, 2016 1 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 94063250 A G Haplotype 7901 RCV000008358;RCV000008359 22940 ABCA4 NM_000350.2:c.1622T>C NP_000341.2:p.Leu541Pro NM_000350.2:c.1622T>C:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations Jan 01, 2016 1 OMIM Stargardt disease 1;STARGARDT DISEASE 1;Cone-rod dystrophy 3 10958761,10958763,12796258,16103129,28118664 Autosomal recessive inheritance Adolescent;Childhood 1-5 / 10 000;1-9 / 100 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;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 +1 94111370 G A Haplotype 225694 RCV000211040 227508 ABCA4 NM_000350.2:c.302+68C>T NM_000350.2:c.302+68C>T:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198,28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 94121045 T C Haplotype 236068 RCV000408532 104999 ABCA4 NM_000350.2:c.1A>G NP_000341.2:p.Met1Val NM_000350.2:c.1A>G:missense variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts Sep 23, 2016 2 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 Autosomal recessive inheritance Adolescent 1-5 / 10 000 germline Genetic Alliance:Stargardt+disease+1/9354;Genetic Testing Registry (GTR):GTR000518794;Genetic Testing Registry (GTR):GTR000518797;Genetic Testing Registry (GTR):GTR000518887;Genetic Testing Registry (GTR):GTR000518888;Genetic Testing Registry (GTR):GTR000520060;Genetic Testing Registry (GTR):GTR000528277;Genetics Home Reference:stargardt-macular-degeneration;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 +1 115726998 T C Haplotype 228471 RCV000217394 44436 CASQ2 NM_001232.3:c.731A>G NP_001223.2:p.His244Arg NM_001232.3:c.731A>G:missense variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 115726999 G A Haplotype 228471 RCV000217394 228262 CASQ2 NM_001232.3:c.730C>T NP_001223.2:p.His244Tyr NM_001232.3:c.730C>T:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Aug 10, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 155235203 C G Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 38385 GBA NM_001005741.2:c.1497G>C NP_001005741.1:p.Val499= NM_001005741.2:c.1497G>C:synonymous variant Benign 0 1 0 criteria provided, single submitter Jul 24, 2012 1 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993,1437405,1594045,18197057,1972019,19888064,20301446,2349952,2914709,7857677,8929950;10685993,1437405,1594045,1972019,20301446,2349952,2914709,7857677,8929950 Autosomal recessive inheritance All ages 1-9 / 100 000 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;Genetic Testing Registry (GTR):GTR000552033;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 +1 155235217 C G Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 38384 GBA NM_001005741.2:c.1483G>C NP_001005741.1:p.Ala495Pro NM_001005741.2:c.1483G>C:missense variant Benign 0 1 0 criteria provided, single submitter Jul 24, 2012 1 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993,1437405,1594045,18197057,1972019,19888064,20301446,2349952,2914709,7857677,8929950;10685993,1437405,1594045,1972019,20301446,2349952,2914709,7857677,8929950 Autosomal recessive inheritance All ages 1-9 / 100 000 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;Genetic Testing Registry (GTR):GTR000552033;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 +1 155235252 A G Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 19327 GBA NM_001005741.2:c.1448T>C NP_001005741.1:p.Leu483Pro NM_001005741.2:c.1448T>C:missense variant Pathogenic;risk factor 1 0 0 criteria provided, multiple submitters, no conflicts Sep 23, 2016 2 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993,1437405,1594045,18197057,1972019,19888064,20301446,2349952,2914709,7857677,8929950;10685993,1437405,1594045,1972019,20301446,2349952,2914709,7857677,8929950 Autosomal recessive inheritance All ages 1-9 / 100 000 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;Genetic Testing Registry (GTR):GTR000552033;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 +1 155235727 C G Haplotype 4334 RCV000004580;RCV000004581 19332 GBA NM_001005741.2:c.1342G>C NP_001005741.1:p.Asp448His NM_001005741.2:c.1342G>C:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Aug 29, 2016 2 OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354,20301446 Autosomal recessive inheritance All ages germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;Genetic Testing Registry (GTR):GTR000552033;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 +1 155236376 C T Haplotype 4299 RCV000004538 38432 GBA NM_001005741.2:c.1093G>A NP_001005741.1:p.Glu365Lys NM_001005741.2:c.1093G>A:missense variant Benign;risk factor 0 1 0 criteria provided, multiple submitters, no conflicts Dec 12, 2014 2 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I 10079102,11903352,15146461,18197057,1864608,19888064,20301446 All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 +1 155237458 A C Haplotype 4334 RCV000004580;RCV000004581 19373 GBA NM_001005741.2:c.882T>G NP_001005741.1:p.His294Gln NM_001005741.2:c.882T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 01, 2005 0 OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354,20301446 Autosomal recessive inheritance All ages germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;Genetic Testing Registry (GTR):GTR000552033;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 +1 155238570 C G Haplotype 4299 RCV000004538 19338 GBA NM_001005741.2:c.535G>C NP_001005741.1:p.Asp179His NM_001005741.2:c.535G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 01, 2004 0 OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I 10079102,11903352,15146461,18197057,1864608,19888064,20301446 All ages 1-9 / 100 000 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 +1 156860959 C T Haplotype 12304 RCV000030667 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 1 0 0 no assertion criteria provided Aug 05, 2008 0 OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344,11159935,20301726 Childhood 1-9 / 1 000 000 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 +1 156879126 C T Haplotype 12304 RCV000030667 38397 NTRK1 NM_002529.3:c.1810C>T NP_002520.2:p.His604Tyr NM_001007792.1:c.1702C>T:missense variant Benign;Likely benign;Pathogenic 1 1 1 criteria provided, conflicting interpretations Jun 14, 2016 1 OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344,11159935,20301726 Childhood 1-9 / 1 000 000 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 +1 156879154 G T Haplotype 12304 RCV000030667 27347 NTRK1 NM_002529.3:c.1838G>T NP_002520.2:p.Gly613Val NM_001007792.1:c.1730G>T:missense variant Benign;Likely benign;Pathogenic 1 1 1 criteria provided, conflicting interpretations Jun 14, 2016 1 OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344,11159935,20301726 Childhood 1-9 / 1 000 000 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 +1 161306427 G C Haplotype 14182 RCV000015246 38403 MPZ NM_000530.7:c.486C>G NP_000521.2:p.Ile162Met NM_000530.7:c.486C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 01, 2002 0 OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375,20301462,9222756 Autosomal dominant inheritance Adult germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000231905;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509965;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000529452;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 +1 161306774 C T Haplotype 14180 RCV000015243 38402 MPZ NM_000530.7:c.382G>A NP_000521.2:p.Asp128Asn NM_000530.7:c.382G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1997 0 OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 +1 161306810 T G Haplotype 14180 RCV000015243 38401 MPZ NM_000530.7:c.346A>C NP_000521.2:p.Asn116His NM_000530.7:c.346A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1997 0 OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 +1 161306815 A G Haplotype 14180 RCV000015243 29219 MPZ NM_000530.7:c.341T>C NP_000521.2:p.Ile114Thr NM_000530.7:c.341T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1997 0 OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 +1 161306819 C A Haplotype 208147 RCV000194363 49442 MPZ NM_000530.7:c.337G>T NP_000521.2:p.Val113Phe NM_000530.7:c.337G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Mar 26, 2015 0 GeneReviews Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type IB 19502294,20301384 Autosomal dominant inheritance Adolescent DI-CMTB is a rare cause of CMT. Up to 3.4% of CMT is caused by a DNM2 mutation germline GeneReviews:NBK1205;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000310902;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509930;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000521569;Genetic Testing Registry (GTR):GTR000529452;MedGen:C0270912;OMIM:118200;Office of Rare Diseases:1246;Orphanet:101082;SNOMED CT:42986003 +1 161306882 C T Haplotype 14182 RCV000015246 38404 MPZ NM_000530.7:c.274G>A NP_000521.2:p.Val92Met NM_000530.7:c.274G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 01, 2002 0 OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375,20301462,9222756 Autosomal dominant inheritance Adult germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000231905;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509965;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000529452;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 +1 161306890 A T Haplotype 14182 RCV000015246 29221 MPZ NM_000530.7:c.266T>A NP_000521.2:p.Ile89Asn NM_000530.7:c.266T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 01, 2002 0 OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375,20301462,9222756 Autosomal dominant inheritance Adult germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000231905;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509965;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000529452;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 +1 161306915 G A Haplotype 208147 RCV000194363 49438 MPZ NM_000530.7:c.241C>T NP_000521.2:p.His81Tyr NM_000530.7:c.241C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Mar 26, 2015 0 GeneReviews Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type IB 19502294,20301384 Autosomal dominant inheritance Adolescent DI-CMTB is a rare cause of CMT. Up to 3.4% of CMT is caused by a DNM2 mutation germline GeneReviews:NBK1205;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285;Genetic Testing Registry (GTR):GTR000056721;Genetic Testing Registry (GTR):GTR000262712;Genetic Testing Registry (GTR):GTR000310902;Genetic Testing Registry (GTR):GTR000508897;Genetic Testing Registry (GTR):GTR000509930;Genetic Testing Registry (GTR):GTR000520409;Genetic Testing Registry (GTR):GTR000521569;Genetic Testing Registry (GTR):GTR000529452;MedGen:C0270912;OMIM:118200;Office of Rare Diseases:1246;Orphanet:101082;SNOMED CT:42986003 +1 161629903 T C Haplotype 36924 RCV000030607 45587 FCGR3B NM_000570.4:c.194A>G NP_000561.3:p.Asn65Ser NM_000570.4:c.194A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 01, 1989 0 OMIM Neutrophil-specific antigens na1/na2;NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 2478590 germline MedGen:C4017227 +1 171107825 G A Haplotype 16318;217371 RCV000017711;RCV000201276;RCV000201278 38476 FMO3 NM_006894.5:c.472G>A NP_008825.4:p.Glu158Lys NM_001002294.2:c.472G>A:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10485731,10896299,11809920,20301282,22126753;19321370,20301282,22126753 Autosomal recessive inheritance 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 +1 171108154 T C Haplotype 217371 RCV000201278 214011 FMO3 NM_006894.5:c.560T>C NP_008825.4:p.Val187Ala NM_001002294.2:c.560T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 01, 2015 0 GeneReviews Trimethylaminuria 19321370,20301282,22126753 Autosomal recessive inheritance 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 +1 171114102 A G Haplotype 16318 RCV000017711;RCV000201276 31357 FMO3 NM_006894.5:c.923A>G NP_008825.4:p.Glu308Gly NM_001002294.2:c.923A>G:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10485731,10896299,11809920,20301282,22126753 Autosomal recessive inheritance 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 +1 179575915 C A Haplotype 225143 RCV000210779 227036 NPHS2 NM_014625.3:c.-51G>T NM_014625.3:c.-51G>T:5 prime UTR variant Likely benign;Likely pathogenic 1 1 1 criteria provided, conflicting interpretations Jun 14, 2016 1 Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant Autosomal recessive inheritance All ages unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;Genetic Testing Registry (GTR):GTR000552033;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 +1 179575916 G C Haplotype 225143 RCV000210779 227037 NPHS2 NM_014625.3:c.-52C>G NM_014625.3:c.-52C>G:5 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant Autosomal recessive inheritance All ages unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;Genetic Testing Registry (GTR):GTR000552033;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 +1 183574507 T C Haplotype 2240 RCV000002328 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 not reported for simple variant 0 0 0 no assertion for the individual variant Feb 24, 1997 0 OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 9070911 Adolescent 1-9 / 1 000 000 germline Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;Genetics Home Reference:chronic-granulomatous-disease;MedGen:C1856245;OMIM:233710;Orphanet:379 +1 183574509 T A Haplotype 2240 RCV000002328 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 not reported for simple variant 0 0 0 no assertion for the individual variant Feb 24, 1997 0 OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 9070911 Adolescent 1-9 / 1 000 000 germline Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;Genetics Home Reference:chronic-granulomatous-disease;MedGen:C1856245;OMIM:233710;Orphanet:379 +1 209706871 C CA Haplotype 8911 RCV000009466 23950 HSD11B1 NM_181755.2:c.331+53dupA NM_181755.2:c.331+53dupA:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2007 0 OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176,15827106,16091483,16817821,17062770 <1 / 1 000 000 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 +1 209706914 T G Haplotype 8911 RCV000009466 76328 HSD11B1 NM_181755.2:c.332-29T>G NM_181755.2:c.332-29T>G:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2007 0 OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176,15827106,16091483,16817821,17062770 <1 / 1 000 000 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 +1 210919955 C G Haplotype 203434 RCV000185594 181518 KCNH1 NM_172362.2:c.1147G>C NP_758872.1:p.Val383Leu NM_172362.2:c.1147G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 01, 2015 0 OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964,25915598 Infancy <1 / 1 000 000 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 +1 210920047 G T Haplotype 203434 RCV000185594 181521 KCNH1 NM_002238.3:c.974C>A NP_758872.1:p.Ser352Tyr NM_172362.2:c.1055C>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 01, 2015 0 OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964,25915598 Infancy <1 / 1 000 000 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 +1 226982996 C T Haplotype 217876 RCV000201953 214530 COQ8A NM_020247.4:c.1042C>T NP_064632.2:p.Arg348Ter NM_020247.4:c.1042C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter Jun 07, 2016 1 Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072,20580948 Childhood <1 / 1 000 000 germline Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 +1 226985332 G A Haplotype 217876 RCV000201953 18675 COQ8A NM_020247.4:c.1651G>A NP_064632.2:p.Glu551Lys NM_020247.4:c.1651G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 07, 2016 0 Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072,20580948 Childhood <1 / 1 000 000 germline Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 +1 229432787 G A Haplotype 18293 RCV000019955 38498 ACTA1 NM_001100.3:c.223C>T NP_001091.1:p.His75Tyr NM_001100.3:c.223C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 2009 0 OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116,20301465,22510848 Autosomal recessive inheritance germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;Genetic Testing Registry (GTR):GTR000502403;Genetic Testing Registry (GTR):GTR000502456;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000519025;Genetic Testing Registry (GTR):GTR000522325;Genetic Testing Registry (GTR):GTR000552030;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 +1 229432788 C A Haplotype 18293 RCV000019955 33332 ACTA1 NM_001100.3:c.222G>T NP_001091.1:p.Glu74Asp NM_001100.3:c.222G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 2009 0 OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116,20301465,22510848 Autosomal recessive inheritance germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;Genetic Testing Registry (GTR):GTR000502403;Genetic Testing Registry (GTR):GTR000502456;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000519025;Genetic Testing Registry (GTR):GTR000522325;Genetic Testing Registry (GTR):GTR000552030;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 +2 31529311 G C CompoundHeterozygote 375279 RCV000416333 362050 SRD5A2 NM_000348.3:c.694C>G NP_000339.2:p.His232Asp NM_000348.3:c.694C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 09, 2017 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 25741868 Autosomal recessive inheritance Adolescent loss of function inherited Genetic Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608;Genetic Testing Registry (GTR):GTR000500408;Genetic Testing Registry (GTR):GTR000508993;Genetic Testing Registry (GTR):GTR000528277;MedGen:C0268297;OMIM:264600;Office of Rare Diseases:5680;Orphanet:753;SNOMED CT:57514000 +2 31529325 C T CompoundHeterozygote 375261;375279 RCV000416356;RCV000416333 18390 SRD5A2 NM_000348.3:c.680G>A NP_000339.2:p.Arg227Gln NM_000348.3:c.680G>A:missense variant Pathogenic;not provided 1 0 0 criteria provided, single submitter Jan 09, 2017 1 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 25741868 Autosomal recessive inheritance Adolescent loss of function inherited Genetic Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608;Genetic Testing Registry (GTR):GTR000500408;Genetic Testing Registry (GTR):GTR000508993;Genetic Testing Registry (GTR):GTR000528277;MedGen:C0268297;OMIM:264600;Office of Rare Diseases:5680;Orphanet:753;SNOMED CT:57514000 +2 31529466 A C CompoundHeterozygote 375261 RCV000416356 361962 SRD5A2 NM_000348.3:c.548-9T>G NM_000348.3:c.548-9T>G:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 14, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 25741868 Autosomal recessive inheritance Adolescent loss of function inherited Genetic Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608;Genetic Testing Registry (GTR):GTR000500408;Genetic Testing Registry (GTR):GTR000508993;Genetic Testing Registry (GTR):GTR000528277;MedGen:C0268297;OMIM:264600;Office of Rare Diseases:5680;Orphanet:753;SNOMED CT:57514000 +2 47046329 A G Haplotype 190388 RCV000170526 188215 TTC7A NM_020458.3:c.1817A>G NP_065191.2:p.Lys606Arg NM_001288953.1:c.1715A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 2013 0 OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 Neonatal 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;SNOMED CT:95472001 +2 47050043 T C Haplotype 190388 RCV000170526 188216 TTC7A NM_020458.3:c.2014T>C NP_065191.2:p.Ser672Pro NM_001288953.1:c.1912T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 2013 0 OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 Neonatal 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;SNOMED CT:95472001 +2 86217101 T C Distinct chromosomes 157528 RCV000144873 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 not reported for simple variant 0 0 0 no assertion for the individual variant Nov 01, 2013 0 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 +2 127654493 G A Haplotype 222901 RCV000208555 224616 LIMS2 NM_001161404.1:c.275C>T NP_001154876.1:p.Pro92Leu NM_001161404.1:c.275C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 12, 2016 0 OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:CN235330;OMIM:616827 +2 127654507 G C Haplotype 222901 RCV000208555 224615 LIMS2 NM_001136037.2:c.342C>G NP_001154876.1:p.Asn87Lys NM_001161404.1:c.261C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 12, 2016 0 OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:CN235330;OMIM:616827 +2 130342034 A G CompoundHeterozygote 242871 RCV000239375 216019 CCDC115 NM_001321118.1:c.97-90T>C NP_115733.2:p.Leu31Ser NM_001321118.1:c.97-90T>C:intron variant;NM_032357.3:c.92T>C:missense variant;NR_135548.1:n.350T>C:non-coding transcript variant Pathogenic 1 0 0 no assertion criteria provided Feb 26, 2016 0 Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center Congenital disorders of glycosylation type II;Congenital Disorders of Glycosylation type II 26833332 germline MedGen:CN234782 +2 166272746 C A Haplotype 30359 RCV000023304 39316 SCN9A NM_002977.3:c.2971G>T NP_002968.1:p.Val991Leu NM_002977.3:c.2971G>T:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 +2 166277030 T G Haplotype 30359 RCV000023304 39315 SCN9A NM_002977.3:c.2794A>C NP_002968.1:p.Met932Leu NM_002977.3:c.2794A>C:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 +2 178530595 AC A Haplotype 178839 RCV000155611 172806 TTN-AS1 NM_133378.4:c.98315delG NP_001254479.2:p.Gly35340Valfs NM_001267550.2:c.106019delG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 27, 2013 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344,23975875,24033266 Autosomal recessive inheritance Childhood germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetic Testing Registry (GTR):GTR000324320;Genetic Testing Registry (GTR):GTR000500129;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000509767;Genetic Testing Registry (GTR):GTR000553005;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 +2 178569735 ATGTT A Haplotype 178839 RCV000155611 172708 TTN-AS1 NM_001267550.2:c.76393_76396delAACA NP_001254479.2:p.Asn25465Terfs NM_001267550.2:c.76393_76396delAACA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 27, 2013 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344,23975875,24033266 Autosomal recessive inheritance Childhood germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetic Testing Registry (GTR):GTR000324320;Genetic Testing Registry (GTR):GTR000500129;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000509767;Genetic Testing Registry (GTR):GTR000553005;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 +2 178607565 T A Haplotype 179465 RCV000156254 56237 TTN-AS1 NM_001267550.2:c.53123A>T NP_597676.3:p.Lys8768Ile NM_001267550.2:c.53123A>T:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +2 178607566 T C Haplotype 179465 RCV000156254 173874 TTN-AS1 NM_001267550.2:c.53122A>G NP_001254479.2:p.Lys17708Glu NM_001267550.2:c.53122A>G:missense variant Likely benign;Uncertain significance;not provided 0 1 0 criteria provided, conflicting interpretations Aug 31, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +2 188997189 C T Haplotype 101229 RCV000087466 106974 COL3A1 NM_000090.3:c.1786C>T NP_000081.1:p.Arg596Ter NM_000090.3:c.1786C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667,23788249,24882528,25173340,25355838,25356965,27854360 Autosomal dominant inheritance Infancy 1-9 / 100 000 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000501094;Genetic Testing Registry (GTR):GTR000510815;Genetic Testing Registry (GTR):GTR000510818;Genetic Testing Registry (GTR):GTR000519266;Genetic Testing Registry (GTR):GTR000519381;Genetic Testing Registry (GTR):GTR000521913;Genetic Testing Registry (GTR):GTR000525815;Genetic Testing Registry (GTR):GTR000525816;Genetic Testing Registry (GTR):GTR000525817;Genetic Testing Registry (GTR):GTR000525925;Genetic Testing Registry (GTR):GTR000528496;Genetic Testing Registry (GTR):GTR000552603;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 +2 189010205 G A Haplotype 101229 RCV000087466 106975 COL3A1 NM_000090.3:c.3851G>A NP_000081.1:p.Gly1284Glu NM_000090.3:c.3851G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667,23788249,24882528,25173340,25355838,25356965,27854360 Autosomal dominant inheritance Infancy 1-9 / 100 000 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000501094;Genetic Testing Registry (GTR):GTR000510815;Genetic Testing Registry (GTR):GTR000510818;Genetic Testing Registry (GTR):GTR000519266;Genetic Testing Registry (GTR):GTR000519381;Genetic Testing Registry (GTR):GTR000521913;Genetic Testing Registry (GTR):GTR000525815;Genetic Testing Registry (GTR):GTR000525816;Genetic Testing Registry (GTR):GTR000525817;Genetic Testing Registry (GTR):GTR000525925;Genetic Testing Registry (GTR):GTR000528496;Genetic Testing Registry (GTR):GTR000552603;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 +2 200571795 CAG C Haplotype 375673 RCV000417144 362513 SGO2 NM_152524.5:c.1453_1454delGA NP_689737.4:p.Glu485Lysfs NM_152524.5:c.1453_1454delGA:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Aug 30, 2016 0 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 +2 201709900 G A Haplotype 217879 RCV000201952 214531 ALS2 NM_020919.3:c.4261C>T NP_065970.2:p.Arg1421Ter NM_020919.3:c.4261C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Jul 14, 2014 0 Mendelics Analise Genomica Infantile-onset ascending hereditary spastic paralysis 12919135,18394004,20301421 Autosomal recessive inheritance Infancy <1 / 1 000 000 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 +2 201723325 C G CompoundHeterozygote 42162 RCV000034989 205072 ALS2 NM_020919.3:c.3624+5G>C NM_020919.3:c.3624+5G>C:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 10, 2011 0 GeneReviews Amyotrophic lateral sclerosis type 2;ALS2-Related Disorders 20018642,20301421,20301623 Childhood <1 / 1 000 000 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 +2 201723388 AC A CompoundHeterozygote 42162 RCV000034989 51328 ALS2 NM_020919.3:c.3565delG NP_065970.2:p.Val1189Trpfs NM_020919.3:c.3565delG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 10, 2011 0 GeneReviews Amyotrophic lateral sclerosis type 2;ALS2-Related Disorders 20018642,20301421,20301623 Childhood <1 / 1 000 000 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 +2 201723425 C A CompoundHeterozygote 42138 RCV000034965 205071 ALS2 NM_020919.3:c.3529G>T NP_065970.2:p.Gly1177Ter NM_020919.3:c.3529G>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Feb 10, 2011 0 GeneReviews Infantile-onset ascending hereditary spastic paralysis;ALS2-Related Disorders 18394004,20301421 Autosomal recessive inheritance Infancy <1 / 1 000 000 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 +2 201746653 G T Haplotype 217879 RCV000201952 214532 ALS2 NM_020919.3:c.1911C>A NP_065970.2:p.Tyr637Ter NM_020919.3:c.1911C>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Jul 14, 2014 0 Mendelics Analise Genomica Infantile-onset ascending hereditary spastic paralysis 12919135,18394004,20301421 Autosomal recessive inheritance Infancy <1 / 1 000 000 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 +2 201746738 T TCACTG CompoundHeterozygote 42138 RCV000034965 51304 ALS2 NM_020919.3:c.1821_1825dupCAGTG NP_065970.2:p.Glu609Alafs NM_020919.3:c.1821_1825dupCAGTG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 10, 2011 0 GeneReviews Infantile-onset ascending hereditary spastic paralysis;ALS2-Related Disorders 18394004,20301421 Autosomal recessive inheritance Infancy <1 / 1 000 000 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 +2 227273117 G A Haplotype 397582 RCV000449541 285718 COL4A3 NM_000091.4:c.1927G>A NP_000082.2:p.Gly643Ser NM_000091.4:c.1927G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Alport syndrome, autosomal recessive 20301386,22166944 Childhood 1-9 / 100 000 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 +2 232484156 G A Haplotype 235817 RCV000224367 48091 ECEL1 NM_004826.3:c.1252C>T NP_004817.2:p.Arg418Cys NM_004826.3:c.1252C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 04, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 +2 232484156 G T Haplotype 235818 RCV000224716 48089 ECEL1 NM_004826.3:c.1252C>A NP_004817.2:p.Arg418Ser NM_004826.3:c.1252C>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 04, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 +2 232484469 T A Haplotype 235818 RCV000224716 48090 ECEL1 NM_004826.3:c.1184+3A>T NM_004826.3:c.1184+3A>T:intron variant Pathogenic 1 0 0 no assertion criteria provided Feb 04, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 +2 232485078 T C Haplotype 235820 RCV000224404 237475 ECEL1 NM_004826.3:c.869A>G NP_004817.2:p.Tyr290Cys NM_004826.3:c.869A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 08, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 +2 232485253 CCCAT AGC Haplotype 235820 RCV000224404 237476 ECEL1 NM_004826.3:c.797_801delATGGGinsGCT NP_004817.2:p.Asp266Glyfs NM_004826.3:c.797_801delATGGGinsGCT:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 08, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 +2 232485937 G GT Haplotype 235821 RCV000224209 48087 ECEL1 NM_004826.3:c.716dupA NP_004817.2:p.Tyr239Terfs NM_004826.3:c.716dupA:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Feb 04, 2013 1 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 +2 232486064 C T Haplotype 235817 RCV000224367 48092 ECEL1 NM_004826.3:c.590G>A NP_004817.2:p.Gly197Asp NM_004826.3:c.590G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 04, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 +2 232486298 CTGGCGTCCAGGT C Haplotype 235821 RCV000224209 48088 ECEL1 NM_004826.3:c.344_355delACCTGGACGCCA NP_004817.2:p.Asn115_Ala118del NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant Pathogenic 1 0 0 no assertion criteria provided Feb 04, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 Infancy <1 / 1 000 000 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 +2 240869302 T TTCCTGGTTG Haplotype 204181 RCV000186388 200465 AGXT NM_000030.2:c.299_307dupTCCTGGTTG NP_000021.1:p.Val102_Gly103insValLeuVal NM_000030.2:c.299_307dupTCCTGGTTG:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 27, 2014 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 17460142,20301460,22547750 Autosomal recessive inheritance All ages 1 per million;<1 / 1 000 000 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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 +2 240869312 G A Haplotype 204181 RCV000186388 200466 AGXT NM_000030.2:c.308G>A NP_000021.1:p.Gly103Glu NM_000030.2:c.308G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 27, 2014 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 17460142,20301460,22547750 Autosomal recessive inheritance All ages 1 per million;<1 / 1 000 000 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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 +2 240875986 G GA Haplotype 204202 RCV000186409 200559 AGXT NM_000030.2:c.829_830insA NP_000021.1:p.Ala277Aspfs NM_000030.2:c.829_830insA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 27, 2014 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 20301460,22547750 Autosomal recessive inheritance All ages 1 per million;<1 / 1 000 000 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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 +2 240875988 C A Haplotype 204202 RCV000186409 200560 AGXT NM_000030.2:c.830C>A NP_000021.1:p.Ala277Asp NM_000030.2:c.830C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 27, 2014 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 20301460,22547750 Autosomal recessive inheritance All ages 1 per million;<1 / 1 000 000 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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 +3 15635477 GCGGCTG TCC Haplotype 38562 RCV000021886 16934 BTD NM_000060.4:c.98_104delGCGGCTGinsTCC NP_000051.1:p.Cys33Phefs NM_000060.4:c.98_104delGCGGCTGinsTCC:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Aug 29, 2016 2 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518,15776412,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15635512 G A Haplotype 24975;38563 RCV000021890;RCV000021889 36313 BTD NM_000060.4:c.133G>A NP_000051.1:p.Gly45Arg NM_000060.4:c.133G>A:missense variant Likely benign;Pathogenic;Uncertain significance 1 1 1 criteria provided, conflicting interpretations Jul 08, 2016 1 ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15635538 C A Haplotype 24977 RCV000021892 36316 BTD NM_000060.4:c.159C>A NP_000051.1:p.His53Gln NM_000060.4:c.159C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15635539 G T Haplotype 24977 RCV000021892 36317 BTD NM_000060.4:c.160G>T NP_000051.1:p.Glu54Ter NM_000060.4:c.160G>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15635591 T C Haplotype 38562;38564 RCV000021886;RCV000021901 47043 BTD NM_000060.4:c.212T>C NP_000051.1:p.Leu71Pro NM_000060.4:c.212T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency 14707518,15776412,20301497,22378278,22475884,9396567;14707518,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15635614 C T Haplotype 38565;38566 RCV000021903;RCV000032009 16944 BTD NM_000060.4:c.235C>T NP_000051.1:p.Arg79Cys NM_000060.4:c.235C>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Sep 28, 2016 2 ARUP Institute,ARUP Laboratories Biotinidase deficiency 10801053,15776412,16435182,20301497,22378278,22475884;10400129,10801053,15776412,16435182,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15635615 G A Haplotype 38564 RCV000021901 46851 BTD NM_000060.4:c.236G>A NP_000051.1:p.Arg79His NM_000060.4:c.236G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15635662 C T Haplotype 24994 RCV000021912 36332 BTD NM_000060.4:c.283C>T NP_000051.1:p.Gln95Ter NM_000060.4:c.283C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15644326 G A Haplotype 38566;38568 RCV000032009;RCV000021933 46845 BTD NM_000060.4:c.470G>A NP_000051.1:p.Arg157His NM_000060.4:c.470G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts May 25, 2016 2 ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129,10801053,15776412,16435182,20301497,22378278,22475884,9396567;10400129,15776412,16435182,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15644367 G A Haplotype 25016 RCV000021936 36353 BTD NM_000060.4:c.511G>A NP_000051.1:p.Ala171Thr NM_000060.4:c.511G>A:missense variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts May 03, 2016 2 OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129,15776412,20301497,21228398,22378278,22475884,7509806,9375914,9654207 Autosomal recessive inheritance Infancy 1-9 / 100 000 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15644497 A G Haplotype 25030 RCV000021952 36367 BTD NM_000060.4:c.641A>G NP_000051.1:p.Asn214Ser NM_000060.4:c.641A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15644650 A T Haplotype 25042 RCV000021964 36378 BTD NM_000060.4:c.794A>T NP_000051.1:p.His265Leu NM_000060.4:c.794A>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137,20083419,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15644721 G C Haplotype 38563 RCV000021889 46848 BTD NM_000060.4:c.865G>C NP_000051.1:p.Ala289Pro NM_000060.4:c.865G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15644789 T G Haplotype 25042 RCV000021964 36379 BTD NM_000060.4:c.933T>G NP_000051.1:p.Ser311Arg NM_000060.4:c.933T>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137,20083419,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15645027 C T Haplotype 38571 RCV000021985 46849 BTD NM_000060.4:c.1171C>T NP_000051.1:p.Pro391Ser NM_000060.4:c.1171C>T:missense variant Benign 0 1 0 no assertion criteria provided Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630,15776412,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15645063 T G Haplotype 1904 RCV000001981 16943 BTD NM_000060.4:c.1207T>G NP_000051.1:p.Phe403Val NM_000060.4:c.1207T>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter Nov 05, 2014 1 OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15645127 G C Haplotype 24975 RCV000021890 36314 BTD NM_000060.4:c.1271G>C NP_000051.1:p.Cys424Ser NM_000060.4:c.1271G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129,15060693,15776412,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15645186 G C Haplotype 1904;24994;25016;25030;38568 RCV000001981;RCV000021912;RCV000021936;RCV000021952;RCV000021933 16939 BTD NM_000060.4:c.1330G>C NP_000051.1:p.Asp444His NM_000060.4:c.1330G>C:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Nov 21, 2016 2 OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY 10400129,15776412,20301497,22378278,22475884;10400129,15776412,20301497,21228398,22378278,22475884,7509806,9375914,9654207;10400129,15776412,16435182,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15645190 G T Haplotype 38571 RCV000021985 36396 BTD NM_000060.4:c.1334G>T NP_000051.1:p.Gly445Val NM_000060.4:c.1334G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630,15776412,20301497,22378278,22475884,9396567 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 15645217 A C Haplotype 38565 RCV000021903 36326 BTD NM_000060.4:c.1361A>C NP_000051.1:p.Tyr454Ser NM_000060.4:c.1361A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 04, 2012 0 ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10801053,15776412,16435182,20301497,22378278,22475884 Autosomal recessive inheritance Infancy 1-9 / 100 000 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;Genetic Testing Registry (GTR):GTR000332508;Genetic Testing Registry (GTR):GTR000502884;Genetic Testing Registry (GTR):GTR000503007;Genetic Testing Registry (GTR):GTR000503010;Genetic Testing Registry (GTR):GTR000503025;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000506389;Genetic Testing Registry (GTR):GTR000512248;Genetic Testing Registry (GTR):GTR000521225;Genetic Testing Registry (GTR):GTR000521376;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000529377;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 +3 33018510 G A CompoundHeterozygote 208495 RCV000190508 205010 GLB1 NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser NM_000404.3:c.1285C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 13, 2016 0 Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 Childhood <1 / 1 000 000 germline Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 +3 33024297 G T CompoundHeterozygote 208495 RCV000190508 205011 GLB1 NM_000404.3:c.1097C>A NP_000395.2:p.Pro366His NM_000404.3:c.1097C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 13, 2016 0 Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 Childhood <1 / 1 000 000 germline Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 +3 33068940 C T CompoundHeterozygote 242904 RCV000234894 244010 GLB1 NM_000404.3:c.276G>A NP_000395.2:p.Trp92Ter NM_000404.3:c.276G>A:nonsense;NM_001135602.2:c.246-3383G>A:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant May 11, 2016 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Infantile GM1 gangliosidosis 1-9 / 1 000 000 germline Genetic Alliance:Infantile+GM1+gangliosidosis/8659;Human Phenotype Ontology:HP:0001433;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0010729;MedGen:C0268271;OMIM:230500;OMIM:611458.0001;OMIM:611458.0002;OMIM:611458.0005;OMIM:611458.0006;OMIM:611458.0007;OMIM:611458.0010;OMIM:611458.0012;OMIM:611458.0014;OMIM:611458.0017;OMIM:611458.0023;Orphanet:354;SNOMED CT:238026007 +3 33097006 C G CompoundHeterozygote 242904 RCV000234894 244009 GLB1 NM_000404.3:c.75+5G>C NM_000404.3:c.75+5G>C:intron variant;NM_001079811.2:c.-303G>C:2KB upstream variant not reported for simple variant 0 0 0 no assertion for the individual variant May 11, 2016 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Infantile GM1 gangliosidosis 1-9 / 1 000 000 germline Genetic Alliance:Infantile+GM1+gangliosidosis/8659;Human Phenotype Ontology:HP:0001433;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0010729;MedGen:C0268271;OMIM:230500;OMIM:611458.0001;OMIM:611458.0002;OMIM:611458.0005;OMIM:611458.0006;OMIM:611458.0007;OMIM:611458.0010;OMIM:611458.0012;OMIM:611458.0014;OMIM:611458.0017;OMIM:611458.0023;Orphanet:354;SNOMED CT:238026007 +3 38551513 G A Haplotype 9371 RCV000009965 38446 SCN5A NM_198056.2:c.4859C>T NP_932173.1:p.Thr1620Met NM_000335.4:c.4856C>T:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided Apr 10, 2014 0 OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304,19251209,20129283,20301690,21321465,21810866,23788249,25356965,27854360,9521325 Autosomal dominant inheritance Adult 1-5 / 10 000 germline GeneReviews:NBK1517;Genetic Testing Registry (GTR):GTR000316547;Genetic Testing Registry (GTR):GTR000329728;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000502993;Genetic Testing Registry (GTR):GTR000508959;Genetic Testing Registry (GTR):GTR000508974;Genetic Testing Registry (GTR):GTR000511301;Genetic Testing Registry (GTR):GTR000512866;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000525923;Genetic Testing Registry (GTR):GTR000528443;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;MedGen:CN029323;OMIM:601144;Orphanet:130 +3 38562456 G A Haplotype 9407 RCV000010010 38448 SCN5A NM_198056.2:c.3922C>T NP_932173.1:p.Leu1308Phe NM_000335.4:c.3919C>T:missense variant Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts Oct 20, 2015 2 OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948,15851227,18599870,19841300,20129283,20301690,21810866,23788249,25356965,27854360 Autosomal dominant inheritance Adult 1-5 / 10 000 germline GeneReviews:NBK1517;Genetic Testing Registry (GTR):GTR000316547;Genetic Testing Registry (GTR):GTR000329728;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000502993;Genetic Testing Registry (GTR):GTR000508959;Genetic Testing Registry (GTR):GTR000508974;Genetic Testing Registry (GTR):GTR000511301;Genetic Testing Registry (GTR):GTR000512866;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000525923;Genetic Testing Registry (GTR):GTR000528443;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;MedGen:CN029323;OMIM:601144;Orphanet:130 +3 38566555 G A Haplotype 9371 RCV000009965 24410 SCN5A NM_198056.2:c.3694C>T NP_932173.1:p.Arg1232Trp NM_000335.4:c.3691C>T:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations Sep 03, 2015 1 OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304,19251209,20129283,20301690,21321465,21810866,23788249,25356965,27854360,9521325 Autosomal dominant inheritance Adult 1-5 / 10 000 germline GeneReviews:NBK1517;Genetic Testing Registry (GTR):GTR000316547;Genetic Testing Registry (GTR):GTR000329728;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000502993;Genetic Testing Registry (GTR):GTR000508959;Genetic Testing Registry (GTR):GTR000508974;Genetic Testing Registry (GTR):GTR000511301;Genetic Testing Registry (GTR):GTR000512866;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000525923;Genetic Testing Registry (GTR):GTR000528443;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;MedGen:CN029323;OMIM:601144;Orphanet:130 +3 38603929 T C Haplotype 9398 RCV000010000 38447 SCN5A NM_198056.2:c.1673A>G NP_932173.1:p.His558Arg NM_000335.4:c.1673A>G:missense variant Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545,11463728,11997281,12569159,12639704,14760,18378609,23788249,23994779 Autosomal dominant inheritance Adult germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519405;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000528443;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 +3 38604067 G A Haplotype 9398 RCV000010000 24437 SCN5A NM_198056.2:c.1535C>T NP_932173.1:p.Thr512Ile NM_198056.2:c.1535C>T:missense variant Pathogenic;Uncertain significance;not provided 1 0 0 criteria provided, conflicting interpretations Mar 27, 2016 1 OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545,11463728,11997281,12569159,12639704,14760,18378609,23788249,23994779 Autosomal dominant inheritance Adult germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000519267;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519405;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000528443;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 +3 38613752 C T Haplotype 9407 RCV000010010 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 Likely benign;Uncertain significance;not provided 0 1 0 criteria provided, conflicting interpretations Jan 01, 2016 1 OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948,15851227,18599870,19841300,20129283,20301690,21810866,23788249,25356965,27854360 Autosomal dominant inheritance Adult 1-5 / 10 000 germline GeneReviews:NBK1517;Genetic Testing Registry (GTR):GTR000316547;Genetic Testing Registry (GTR):GTR000329728;Genetic Testing Registry (GTR):GTR000500447;Genetic Testing Registry (GTR):GTR000502993;Genetic Testing Registry (GTR):GTR000508959;Genetic Testing Registry (GTR):GTR000508974;Genetic Testing Registry (GTR):GTR000511301;Genetic Testing Registry (GTR):GTR000512866;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000523351;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000525923;Genetic Testing Registry (GTR):GTR000528443;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;MedGen:CN029323;OMIM:601144;Orphanet:130 +3 39265671 G A Haplotype 8152 RCV000008629;RCV000008630;RCV000022393;RCV000023109 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 18, 2015 0 OMIM;NCBI curation Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS;Coronary artery disease, resistance to;Age-related macular degeneration 12;MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151,11264153,12697743,15208270,17909628,23716478;15208270,17909628 germline MedGen:C4016733;MedGen:C1832288;Genetic Alliance:Age-related+macular+degeneration+12/7651;Genetics Home Reference:age-related-macular-degeneration;MedGen:C3151079;OMIM:613784;OMIM:601470.0001 +3 39265765 C T Haplotype 8152 RCV000008629;RCV000008630;RCV000022393;RCV000023109 23191 CX3CR1 NM_001171174.1:c.841G>A NP_001164645.1:p.Val281Ile NM_001171174.1:c.841G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 18, 2015 0 OMIM;NCBI curation Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS;Coronary artery disease, resistance to;Age-related macular degeneration 12;MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151,11264153,12697743,15208270,17909628,23716478;15208270,17909628 germline MedGen:C4016733;MedGen:C1832288;Genetic Alliance:Age-related+macular+degeneration+12/7651;Genetics Home Reference:age-related-macular-degeneration;MedGen:C3151079;OMIM:613784;OMIM:601470.0001 +3 42691976 T C Haplotype 228777 RCV000213109 229063 KLHL40 NM_152393.3:c.1849T>C NP_689606.2:p.Cys617Arg NM_152393.3:c.1849T>C:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Dec 18, 2015 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +3 42691977 G A Haplotype 228777 RCV000213109 229064 KLHL40 NM_152393.3:c.1850G>A NP_689606.2:p.Cys617Tyr NM_152393.3:c.1850G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 18, 2015 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +3 45476508 C T CompoundHeterozygote 203992 RCV000203256 200390 LARS2 NM_015340.3:c.899C>T NP_056155.1:p.Thr300Met NM_015340.3:c.899C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter Dec 10, 2015 1 Molecular Genetics and RNA Biology, Humanitas University Perrault syndrome 4;Perrault syndrome 4 26657938 Adolescent <1 / 1 000 000 germline MedGen:C3809105;OMIM:615300;Orphanet:2855 +3 45516144 G A CompoundHeterozygote 203992 RCV000203256 200391 LARS2 NM_015340.3:c.1912G>A NP_056155.1:p.Glu638Lys NM_015340.3:c.1912G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter Dec 10, 2015 1 Molecular Genetics and RNA Biology, Humanitas University Perrault syndrome 4;Perrault syndrome 4 26657938 Adolescent <1 / 1 000 000 germline MedGen:C3809105;OMIM:615300;Orphanet:2855 +3 49123179 G A Haplotype 14535 RCV000015634 38466 LAMB2 NM_002292.3:c.4177C>T NP_002283.3:p.Leu1393Phe NM_002292.3:c.4177C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 2006 0 OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 Infancy <1 / 1 000 000 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 +3 49123216 G T Haplotype 14535 RCV000015634 29574 LAMB2 NM_002292.3:c.4140C>A NP_002283.3:p.Asn1380Lys NM_002292.3:c.4140C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 2006 0 OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 Infancy <1 / 1 000 000 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 +3 64157305 C T Haplotype 30731 RCV000023709 39689 PRICKLE2 NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile NM_198859.3:c.457G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Sep 10, 2015 1 OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947,26942291,26942292,632821 Adolescent <1 / 1 000 000 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 +3 64157319 C T Haplotype 30731 RCV000023709 39688 PRICKLE2 NM_198859.3:c.443G>A NP_942559.1:p.Arg148His NM_198859.3:c.443G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 20, 2015 0 OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947,26942291,26942292,632821 Adolescent <1 / 1 000 000 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 +3 114339010 C T Haplotype 253111 RCV000239523 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 not reported for simple variant 0 0 0 no assertion for the individual variant Aug 08, 2016 0 OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 +3 114339384 G A Haplotype 253111 RCV000239523 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 not reported for simple variant 0 0 0 no assertion for the individual variant Aug 08, 2016 0 OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 +3 124735222 A G Haplotype 11906 RCV000012681 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 not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 1997 0 OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 Infancy <1 / 1 000 000 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 +3 124743926 G C Haplotype 11906 RCV000012681 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 not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 1997 0 OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 Infancy <1 / 1 000 000 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 +3 193637313 T C Haplotype 5089 RCV000005394 101627 OPA1 NM_015560.2:c.870+32T>C NM_015560.2:c.870+32T>C:intron variant Benign 0 1 0 criteria provided, single submitter Feb 22, 2013 1 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 +4 1002767 G C Haplotype 11911 RCV000012686 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 Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 OMIM Hurler syndrome;HURLER SYNDROME 20301341,8328452 Autosomal recessive inheritance germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0086795;OMIM:607014 +4 1004393 A T Haplotype 11911 RCV000012686 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 not reported for simple variant 0 0 0 no assertion for the individual variant Aug 01, 1993 0 OMIM Hurler syndrome;HURLER SYNDROME 20301341,8328452 Autosomal recessive inheritance germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0086795;OMIM:607014 +4 1804384 T G Haplotype 16353 RCV000017763 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 not reported for simple variant 0 0 0 no assertion for the individual variant Feb 01, 2006 0 OMIM Achondroplasia;ACHONDROPLASIA 16411219,20301331,2783977 Autosomal dominant inheritance Neonatal 1-9 / 100 000;1.3 per 100,000 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):GTR000319775;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):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;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 +4 1804392 G A Haplotype 16353 RCV000017763 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 1 0 0 criteria provided, multiple submitters, no conflicts Aug 12, 2016 2 OMIM Achondroplasia;ACHONDROPLASIA 16411219,20301331,2783977 Autosomal dominant inheritance Neonatal 1-9 / 100 000;1.3 per 100,000 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):GTR000319775;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):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;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 +4 1805396 A G Haplotype 16360 RCV000017771 38478 FGFR3 NM_001163213.1:c.1460A>G NP_001156685.1:p.Gln487Arg NM_000142.4:c.1454A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 01, 2009 0 OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430,20301540 Autosomal dominant inheritance Antenatal 1-9 / 100 000 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):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;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 +4 1805644 C A Haplotype 16360 RCV000017771 31376 FGFR3 NM_001163213.1:c.1626C>A NP_001156685.1:p.Asn542Lys NM_000142.4:c.1620C>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts May 25, 2016 2 OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430,20301540 Autosomal dominant inheritance Antenatal 1-9 / 100 000 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):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;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 +4 67740661 G A CompoundHeterozygote 219104 RCV000203470 150302 GNRHR NM_000406.2:c.806C>T NP_000397.1:p.Thr269Met NM_000406.2:c.806C>T:missense variant;NM_001012763.1:c.678C>T:synonymous variant Pathogenic 1 0 0 no assertion criteria provided Jul 08, 2015 0 Research Centre for Medical Genetics Hypogonadotropic hypogonadism 7 with or without anosmia 20301509 Infancy inherited Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital:GnSn_Ex3;GeneReviews:NBK1334;Genetic Alliance:Hypogonadism%2C+isolated%2C+hypogonadotropic/3650;Genetic Testing Registry (GTR):GTR000278766;MedGen:C0271623;OMIM:138850.0001;OMIM:138850.0002;OMIM:138850.0003;OMIM:138850.0004;OMIM:138850.0005;OMIM:138850.0006;OMIM:138850.0007;OMIM:138850.0008;OMIM:138850.0009;OMIM:138850.0010;OMIM:138850.0011;OMIM:138850.0012;OMIM:138850.0013;OMIM:138850.0014;OMIM:146110;Orphanet:432;SNOMED CT:33927004 +4 67753920 C T CompoundHeterozygote 219104 RCV000203470 31069 GNRHR NM_000406.2:c.416G>A NP_000397.1:p.Arg139His NM_000406.2:c.416G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter Jun 14, 2016 1 Research Centre for Medical Genetics Hypogonadotropic hypogonadism 7 with or without anosmia 20301509 Infancy inherited Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital:GnSn_Ex3;GeneReviews:NBK1334;Genetic Alliance:Hypogonadism%2C+isolated%2C+hypogonadotropic/3650;Genetic Testing Registry (GTR):GTR000278766;MedGen:C0271623;OMIM:138850.0001;OMIM:138850.0002;OMIM:138850.0003;OMIM:138850.0004;OMIM:138850.0005;OMIM:138850.0006;OMIM:138850.0007;OMIM:138850.0008;OMIM:138850.0009;OMIM:138850.0010;OMIM:138850.0011;OMIM:138850.0012;OMIM:138850.0013;OMIM:138850.0014;OMIM:146110;Orphanet:432;SNOMED CT:33927004 +4 70033186 G A Haplotype 14913 RCV000016048 38467 HTN3 NM_000200.2:c.122G>A NP_000191.1:p.Arg41Gln NM_000200.2:c.122G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1994 0 OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 +4 70033205 T A Haplotype 14913 RCV000016048 29952 HTN3 NM_000200.2:c.141T>A NP_000191.1:p.Tyr47Ter NM_000200.2:c.141T>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1994 0 OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 +4 102267916 C G Haplotype 218898 RCV000203237 215658 SLC39A8 NM_022154.5:c.1004G>C NP_071437.3:p.Ser335Thr NM_022154.5:c.1004G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 03, 2015 0 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 26637979 germline MedGen:CN234667;OMIM:608732.0001;OMIM:608732.0002;OMIM:608732.0003;OMIM:608732.0004;OMIM:616721 +4 102344566 C T Haplotype 218898 RCV000203237 215659 SLC39A8 NM_022154.5:c.97G>A NP_071437.3:p.Val33Met NM_022154.5:c.97G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 03, 2015 0 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 26637979 germline MedGen:CN234667;OMIM:608732.0001;OMIM:608732.0002;OMIM:608732.0003;OMIM:608732.0004;OMIM:616721 +4 108167587 A G Haplotype 14382 RCV000015459 38464 LEF1-AS1 NM_016269.4:c.181T>C NP_057353.1:p.Ser61Pro NM_001166119.1:c.-1307T>C:2KB upstream variant;NM_016269.4:c.181T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 01, 2006 0 OMIM Sebaceous tumors, somatic;SEBACEOUS TUMORS, SOMATIC 16565724 somatic MedGen:C1835244 +4 108167635 C T Haplotype 14382 RCV000015459 29421 LEF1-AS1 NM_016269.4:c.133G>A NP_057353.1:p.Glu45Lys NM_001166119.1:c.-1355G>A:2KB upstream variant;NM_016269.4:c.133G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 01, 2006 0 OMIM Sebaceous tumors, somatic;SEBACEOUS TUMORS, SOMATIC 16565724 somatic MedGen:C1835244 +5 225434 G C Haplotype 190221 RCV000170440 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 not reported for simple variant 0 0 0 no assertion for the individual variant Mar 10, 2015 0 Mendelics Analise Genomica Mitochondrial complex II deficiency;Mitochondrial complex II deficiency 10746566,22972948 <1 / 1 000 000 germline Genetic Alliance:Mitochondrial+complex+II+deficiency/4824;MedGen:C1855008;OMIM:252011;Office of Rare Diseases:5053;Orphanet:3208 +5 240474 A G Haplotype 190221 RCV000170440 188049 SDHA NM_004168.3:c.1549A>G NP_004159.2:p.Lys517Glu NM_004168.3:c.1549A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 10, 2016 1 Mendelics Analise Genomica Mitochondrial complex II deficiency;Mitochondrial complex II deficiency 10746566,22972948 <1 / 1 000 000 germline Genetic Alliance:Mitochondrial+complex+II+deficiency/4824;MedGen:C1855008;OMIM:252011;Office of Rare Diseases:5053;Orphanet:3208 +5 1266519 C T Haplotype 36946 RCV000030627 45604 TERT NM_198253.2:c.2599G>A NP_937983.2:p.Val867Met NM_198253.2:c.2599G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 2011 0 OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 Adult 1-9 / 1 000 000 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 +5 1272196 C T Haplotype 36946 RCV000030627 45603 TERT NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile NM_198253.2:c.2371G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 18, 2016 1 OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 Adult 1-9 / 1 000 000 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 +5 37169056 T G CompoundHeterozygote 375266 RCV000416362 361968 C5orf42 NM_023073.3:c.6968A>C NP_075561.3:p.Gln2323Pro NM_023073.3:c.6968A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 31, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Orofaciodigital syndrome 6;Joubert syndrome 17 20301500,21448235,25741868 Autosomal recessive inheritance Antenatal;Infancy 1-9 / 100 000;<1 / 1 000 000 inherited GeneReviews:NBK1325;Genetic Alliance:Joubert+syndrome+17/8692;Genetic Alliance:Orofaciodigital+syndrome+6/5425;Genetic Testing Registry (GTR):GTR000500621;Genetic Testing Registry (GTR):GTR000512676;Genetic Testing Registry (GTR):GTR000552165;Genetic Testing Registry (GTR):GTR000552175;Genetic Testing Registry (GTR):GTR000553130;Genetic Testing Registry (GTR):GTR000553398;MedGen:C2745997;MedGen:C3553264;OMIM:277170;OMIM:614615;Office of Rare Diseases:5458;Orphanet:2754;Orphanet:475 +5 37226515 T C CompoundHeterozygote 375266 RCV000416362 361969 C5orf42 NM_023073.3:c.2080A>G NP_075561.3:p.Met694Val NM_023073.3:c.2080A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 31, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Orofaciodigital syndrome 6;Joubert syndrome 17 20301500,21448235,25741868 Autosomal recessive inheritance Antenatal;Infancy 1-9 / 100 000;<1 / 1 000 000 inherited GeneReviews:NBK1325;Genetic Alliance:Joubert+syndrome+17/8692;Genetic Alliance:Orofaciodigital+syndrome+6/5425;Genetic Testing Registry (GTR):GTR000500621;Genetic Testing Registry (GTR):GTR000512676;Genetic Testing Registry (GTR):GTR000552165;Genetic Testing Registry (GTR):GTR000552175;Genetic Testing Registry (GTR):GTR000553130;Genetic Testing Registry (GTR):GTR000553398;MedGen:C2745997;MedGen:C3553264;OMIM:277170;OMIM:614615;Office of Rare Diseases:5458;Orphanet:2754;Orphanet:475 +5 41853435 A T Haplotype 8165 RCV000008643 38389 OXCT1 NM_000436.3:c.398T>A NP_000427.1:p.Val133Glu NM_000436.3:c.398T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1998 0 OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 Infancy <1 / 1 000 000 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 +5 41862656 G A Haplotype 8165 RCV000008643 23204 OXCT1 NM_000436.3:c.173C>T NP_000427.1:p.Thr58Met NM_000436.3:c.173C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1998 0 OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 Infancy <1 / 1 000 000 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 +5 112707523 A C Haplotype 243004 RCV000234986 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 12, 2016 0 OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466,15604628,20301519,21368914,21813476,23788249,24310308,25356965,25452455,25645574,27087319,27854360 Autosomal dominant inheritance 2.29 to 3.2 per 100,000 individuals loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000017525;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000323395;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500012;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 +5 112707592 GA G Haplotype 243004 RCV000234986 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 12, 2016 0 OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466,15604628,20301519,21368914,21813476,23788249,24310308,25356965,25452455,25645574,27087319,27854360 Autosomal dominant inheritance 2.29 to 3.2 per 100,000 individuals loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000017525;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000323395;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500012;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 +5 136056754 C A Haplotype 7874 RCV000008323 22913 TGFBI NM_000358.2:c.1637C>A NP_000349.1:p.Ala546Asp NM_000358.2:c.1637C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 01, 2004 0 OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592,15531312 All ages 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 +5 136056769 C A Haplotype 7874 RCV000008323 38388 TGFBI NM_000358.2:c.1652C>A NP_000349.1:p.Pro551Gln NM_000358.2:c.1652C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 01, 2004 0 OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592,15531312 All ages 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 +6 10874380 A T Haplotype 375590 RCV000417072 362401 GCM2 NM_004752.3:c.1136T>A NP_004743.1:p.Leu379Gln NM_004752.3:c.1136T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 10, 2017 0 OMIM HYPERPARATHYROIDISM 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:603716.0005;OMIM:603716.0006;OMIM:617343 +6 10874765 G C Haplotype 375590 RCV000417072 362400 GCM2 NM_004752.3:c.751C>G NP_004743.1:p.Gln251Glu NM_004752.3:c.751C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 10, 2017 0 OMIM HYPERPARATHYROIDISM 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:603716.0005;OMIM:603716.0006;OMIM:617343 +6 18130687 T C Haplotype 12722 RCV000013559 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response;other 0 0 0 no assertion criteria provided Jul 21, 2015 0 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 +6 18138997 C T Haplotype 12722 RCV000013559 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response;other 0 0 0 no assertion criteria provided Aug 11, 2015 0 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 +6 32039178 C G CompoundHeterozygote 375280 RCV000416360 362051 CYP21A2 NM_000500.7:c.377C>G NP_000491.4:p.Ser126Ter NM_000500.7:c.377C>G:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Sep 16, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 21-hydroxylase deficiency 20301350,25741868 inherited GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 +6 32039426 T A CompoundHeterozygote 375268;375280 RCV000416339;RCV000416360 27189 CYP21A2 NM_000500.7:c.518T>A NP_000491.4:p.Ile173Asn NM_000500.7:c.518T>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Sep 30, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 21-hydroxylase deficiency 20301350,25741868 inherited GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 +6 32039807 T A Haplotype 31662 RCV000012947 33507 CYP21A2 NM_000500.7:c.710T>A NP_000491.4:p.Ile237Asn NM_000500.7:c.710T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 01, 2005 0 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 +6 32039810 T A Haplotype 31662;65613 RCV000012947;RCV000055823 27212 CYP21A2 NM_000500.7:c.713T>A NP_000491.4:p.Val238Glu NM_000500.7:c.713T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 29, 2013 0 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;20301350 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 +6 32039816 T A Haplotype 31662;65613 RCV000012947;RCV000055823 40032 CYP21A2 NM_000500.7:c.719T>A NP_000491.4:p.Met240Lys NM_000500.7:c.719T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 29, 2013 0 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;20301350 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 +6 32040093 AGCTCCTGGAAGG A CompoundHeterozygote 375268 RCV000416339 361971 CYP21A2 NM_000500.7:c.830_841delTCCTGGAAGGGC NP_000491.4:p.Leu277_Gly280del not reported for simple variant 0 0 0 no assertion for the individual variant Sep 30, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 21-hydroxylase deficiency 20301350,25741868 inherited GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 +6 32040110 G T Haplotype 12182 RCV000417198 27190 CYP21A2 NM_000500.7:c.844G>T NP_000491.4:p.Val282Leu NM_000500.7:c.844G>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Jun 27, 2016 2 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 +6 32040182 G GT Haplotype 12182 RCV000417198 76519 CYP21A2 NM_000500.7:c.923dupT NP_000491.4:p.Leu308Phefs NM_000500.7:c.923dupT:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Aug 29, 2013 0 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 +6 32040421 C T Haplotype 12182 RCV000417198 27208 CYP21A2 NM_000500.7:c.955C>T NP_000491.4:p.Gln319Ter NM_000500.7:c.955C>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter Sep 03, 2015 1 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 +6 32040535 C T Haplotype 12182 RCV000417198 27191 CYP21A2 NM_000500.7:c.1069C>T NP_000491.4:p.Arg357Trp NM_000500.7:c.1069C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Aug 29, 2013 0 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 +6 39909922 G A CompoundHeterozygote 208497 RCV000190510 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 0 0 0 criteria provided, single submitter Jul 31, 2016 1 Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 Antenatal germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 +6 39912909 C T CompoundHeterozygote 208497 RCV000190510 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 0 0 0 criteria provided, multiple submitters, no conflicts Jul 31, 2016 2 Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 Antenatal germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 +6 49612504 C T Haplotype 13065 RCV000013940 38460 RHAG NM_000324.2:c.838G>A NP_000315.2:p.Gly280Arg NM_000324.2:c.838G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1999 0 OMIM Rh-null hemolytic anemia, regulator type;RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE 9915949 germline MedGen:C4016364 +6 49612534 C T Haplotype 13065 RCV000013940 28104 RHAG NM_000324.2:c.808G>A NP_000315.2:p.Val270Ile NM_000324.2:c.808G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1999 0 OMIM Rh-null hemolytic anemia, regulator type;RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE 9915949 germline MedGen:C4016364 +6 52424111 C A Haplotype 2067 RCV000002148 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 Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts Apr 08, 2016 2 OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895,15258581 germline +6 52452776 G A Haplotype 2067 RCV000002148 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 Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts Apr 08, 2016 2 OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895,15258581 germline +6 129280071 A C Haplotype 190218 RCV000170437 188050 LAMA2 NM_000426.3:c.2461A>C NP_000417.2:p.Thr821Pro NM_000426.3:c.2461A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 08, 2015 0 Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468,21078917,22420014,22675738 Autosomal recessive inheritance Neonatal 1-9 / 1 000 000 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;Genetic Testing Registry (GTR):GTR000334601;Genetic Testing Registry (GTR):GTR000502396;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000508586;Genetic Testing Registry (GTR):GTR000512397;Genetic Testing Registry (GTR):GTR000514604;Genetic Testing Registry (GTR):GTR000518953;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 +6 129502696 T C Haplotype 190218 RCV000170437 188051 LAMA2 NM_000426.3:c.8282T>C NP_000417.2:p.Ile2761Thr NM_000426.3:c.8282T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 08, 2015 0 Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468,21078917,22420014,22675738 Autosomal recessive inheritance Neonatal 1-9 / 1 000 000 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;Genetic Testing Registry (GTR):GTR000334601;Genetic Testing Registry (GTR):GTR000502396;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000508586;Genetic Testing Registry (GTR):GTR000512397;Genetic Testing Registry (GTR):GTR000514604;Genetic Testing Registry (GTR):GTR000518953;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 +6 152376443 C T Haplotype 92124 RCV000077790 97550 SYNE1 NM_033071.3:c.9283G>A NP_149062.1:p.Ala3095Thr NM_182961.3:c.9262G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 01, 2013 0 OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720,24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 +6 152463486 T C Haplotype 92124 RCV000077790 97551 SYNE1 NM_033071.3:c.1985A>G NP_149062.1:p.Gln662Arg NM_182961.3:c.1964A>G:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720,24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 +7 76054872 G A CompoundHeterozygote 267189 RCV000408947 262040 MDH2 NM_005918.3:c.109G>A NP_005909.2:p.Gly37Arg NM_001282404.1:c.-86-2538G>A:intron variant;NM_005918.3:c.109G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 08, 2017 0 Genetics of Mitochondrial Disorders,HelmholtzZentrum Munchen Infantile encephalopathy;Infantile encephalopathy 27989324 not applicable MedGen:CN238762 +7 76058047 C T CompoundHeterozygote 267189 RCV000408947 260444 MDH2 NM_005918.3:c.398C>T NP_005909.2:p.Pro133Leu NM_005918.3:c.398C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 08, 2017 0 Genetics of Mitochondrial Disorders,HelmholtzZentrum Munchen Infantile encephalopathy;Infantile encephalopathy 27989324 not applicable MedGen:CN238762 +7 87443683 G C Haplotype 217883 RCV000201938 214536 ABCB4 NM_018849.2:c.1210C>G NP_061337.1:p.Pro404Ala NM_018849.2:c.1210C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 25, 2014 0 Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488,9419367 Autosomal recessive inheritance 1-9 / 100 000 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetic Testing Registry (GTR):GTR000500352;Genetic Testing Registry (GTR):GTR000506478;Genetic Testing Registry (GTR):GTR000512463;Genetic Testing Registry (GTR):GTR000514610;Genetic Testing Registry (GTR):GTR000552156;Genetic Testing Registry (GTR):GTR000552234;Genetic Testing Registry (GTR):GTR000552355;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 +7 87453049 C T Haplotype 217883 RCV000201938 214537 ABCB4 NM_018849.2:c.431G>A NP_061337.1:p.Arg144Gln NM_018849.2:c.431G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 25, 2014 0 Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488,9419367 Autosomal recessive inheritance 1-9 / 100 000 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetic Testing Registry (GTR):GTR000500352;Genetic Testing Registry (GTR):GTR000506478;Genetic Testing Registry (GTR):GTR000512463;Genetic Testing Registry (GTR):GTR000514610;Genetic Testing Registry (GTR):GTR000552156;Genetic Testing Registry (GTR):GTR000552234;Genetic Testing Registry (GTR):GTR000552355;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 +7 107695963 A C Haplotype 4816 RCV000005085 38434 SLC26A4 NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu NM_000441.1:c.1468A>C:missense variant Likely benign 0 1 0 criteria provided, single submitter Jul 01, 2015 1 OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264,20301607,20301640,9500541 Infancy 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 +7 107695984 G A Haplotype 4816 RCV000005085 19855 SLC26A4 NM_000441.1:c.1489G>A NP_000432.1:p.Gly497Ser NM_000441.1:c.1489G>A:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Jul 18, 2014 2 OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264,20301607,20301640,9500541 Infancy 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 +7 117530975 G A Haplotype 209047 RCV000190992 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic;drug response 1 0 0 practice guideline Mar 24, 2016 4 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952,12394352,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,23974870,24014130,25431289,25981758,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 +7 117540305 C A Haplotype 40200 RCV000007589 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1993 0 OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952,12394352,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,7679367,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 +7 117540309 C A Haplotype 40200 RCV000007589 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1993 0 OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952,12394352,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,7679367,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 +7 117603609 C T Haplotype 7239 RCV000007661 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Benign 0 1 0 criteria provided, single submitter Feb 15, 2016 1 OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952,12394352,15744523,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,8528204,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 +7 117642451 G T Haplotype 7239 RCV000007661 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant not provided 0 0 0 no assertion provided Feb 01, 2013 0 OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952,12394352,15744523,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,8528204,9580754 Autosomal recessive inheritance All ages 1 in 2000-4000 depending on the population studied.;1-9 / 100 000;1:3200 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):GTR000061757;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):GTR000321636;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000327577;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000500100;Genetic Testing Registry (GTR):GTR000500101;Genetic Testing Registry (GTR):GTR000500102;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000500978;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):GTR000503389;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):GTR000552033;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 +7 128830955 C G CompoundHeterozygote 265766 RCV000256190 260440 FLNC NM_001458.4:c.318C>G NP_001449.3:p.Phe106Leu NM_001458.4:c.318C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 03, 2016 0 emedgene Technologies Primary dilated cardiomyopathy 16839424,20301486,21810866 Autosomal dominant inheritance germline GeneReviews:NBK1309;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500470;Genetic Testing Registry (GTR):GTR000500686;Genetic Testing Registry (GTR):GTR000502612;Genetic Testing Registry (GTR):GTR000506437;Genetic Testing Registry (GTR):GTR000509953;Genetic Testing Registry (GTR):GTR000509954;Genetic Testing Registry (GTR):GTR000511228;Genetic Testing Registry (GTR):GTR000511230;Genetic Testing Registry (GTR):GTR000511279;Genetic Testing Registry (GTR):GTR000511446;Genetic Testing Registry (GTR):GTR000519311;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):GTR000521335;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000523333;Genetic Testing Registry (GTR):GTR000523356;Genetic Testing Registry (GTR):GTR000523362;Genetic Testing Registry (GTR):GTR000523363;Genetic Testing Registry (GTR):GTR000528349;Genetic Testing Registry (GTR):GTR000528433;Genetic Testing Registry (GTR):GTR000528434;Genetic Testing Registry (GTR):GTR000528435;Genetic Testing Registry (GTR):GTR000528436;Genetic Testing Registry (GTR):GTR000528437;Genetic Testing Registry (GTR):GTR000528463;Genetic Testing Registry (GTR):GTR000528464;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528521;Genetic Testing Registry (GTR):GTR000528907;Genetic Testing Registry (GTR):GTR000529018;Genetic Testing Registry (GTR):GTR000551902;Genetic Testing Registry (GTR):GTR000551905;Genetic Testing Registry (GTR):GTR000551928;Genetic Testing Registry (GTR):GTR000552058;Genetic Testing Registry (GTR):GTR000552059;Genetic Testing Registry (GTR):GTR000552574;Human Phenotype Ontology:HP:0001644;MedGen:C0007193;Office of Rare Diseases:221;SNOMED CT:195021004 +7 128844045 C T CompoundHeterozygote 265766 RCV000256190 260441 FLNC NM_001458.4:c.2971C>T NP_001449.3:p.Arg991Ter NM_001458.4:c.2971C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Apr 03, 2016 0 emedgene Technologies Primary dilated cardiomyopathy 16839424,20301486,21810866 Autosomal dominant inheritance germline GeneReviews:NBK1309;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000500470;Genetic Testing Registry (GTR):GTR000500686;Genetic Testing Registry (GTR):GTR000502612;Genetic Testing Registry (GTR):GTR000506437;Genetic Testing Registry (GTR):GTR000509953;Genetic Testing Registry (GTR):GTR000509954;Genetic Testing Registry (GTR):GTR000511228;Genetic Testing Registry (GTR):GTR000511230;Genetic Testing Registry (GTR):GTR000511279;Genetic Testing Registry (GTR):GTR000511446;Genetic Testing Registry (GTR):GTR000519311;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):GTR000521335;Genetic Testing Registry (GTR):GTR000522257;Genetic Testing Registry (GTR):GTR000523333;Genetic Testing Registry (GTR):GTR000523356;Genetic Testing Registry (GTR):GTR000523362;Genetic Testing Registry (GTR):GTR000523363;Genetic Testing Registry (GTR):GTR000528349;Genetic Testing Registry (GTR):GTR000528433;Genetic Testing Registry (GTR):GTR000528434;Genetic Testing Registry (GTR):GTR000528435;Genetic Testing Registry (GTR):GTR000528436;Genetic Testing Registry (GTR):GTR000528437;Genetic Testing Registry (GTR):GTR000528463;Genetic Testing Registry (GTR):GTR000528464;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528521;Genetic Testing Registry (GTR):GTR000528907;Genetic Testing Registry (GTR):GTR000529018;Genetic Testing Registry (GTR):GTR000551902;Genetic Testing Registry (GTR):GTR000551905;Genetic Testing Registry (GTR):GTR000551928;Genetic Testing Registry (GTR):GTR000552058;Genetic Testing Registry (GTR):GTR000552059;Genetic Testing Registry (GTR):GTR000552574;Human Phenotype Ontology:HP:0001644;MedGen:C0007193;Office of Rare Diseases:221;SNOMED CT:195021004 +8 1771262 C T Haplotype 217887 RCV000201947 214538 CLN8 NM_018941.3:c.208C>T NP_061764.2:p.Arg70Cys NM_018941.3:c.208C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 18, 2014 0 Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191,20301601 Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 +8 1780498 C G Haplotype 217887 RCV000201947 106601 CLN8 NM_018941.3:c.792C>G NP_061764.2:p.Asn264Lys NM_018941.3:c.792C>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Aug 18, 2014 0 Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191,20301601 Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 +8 31064934 A T Haplotype 5453 RCV000005786 20492 WRN NM_000553.4:c.375A>T NP_000544.2:p.Lys125Asn NM_000553.4:c.375A>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 01, 2006 0 OMIM Werner syndrome;WERNER SYNDROME 16673358,20301687,22258520 Adolescent 1-9 / 1 000 000 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 +8 31064962 A G Haplotype 5453 RCV000005786 38386 WRN NM_000553.4:c.403A>G NP_000544.2:p.Lys135Glu NM_000553.4:c.403A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 01, 2006 0 OMIM Werner syndrome;WERNER SYNDROME 16673358,20301687,22258520 Adolescent 1-9 / 1 000 000 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 +8 38414166 G C Haplotype 16292 RCV000030930 38475 FGFR1 NM_023110.2:c.2172C>G NP_075598.2:p.Asn724Lys NM_023110.2:c.2172C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 18, 2006 0 OMIM Kallmann syndrome 2;HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16606836,20301509,21682876 Autosomal dominant inheritance 1-9 / 100 000;1:30,000 in males and 1:125,000 in females loss of function germline Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital: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;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 +8 38414173 G T Haplotype 16292 RCV000030930 31331 FGFR1 NM_023110.2:c.2165C>A NP_075598.2:p.Pro722His NM_023110.2:c.2165C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 18, 2006 0 OMIM Kallmann syndrome 2;HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16606836,20301509,21682876 Autosomal dominant inheritance 1-9 / 100 000;1:30,000 in males and 1:125,000 in females loss of function germline Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital: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;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 +8 142912850 A G Haplotype 16876;16877 RCV000018372;RCV000018373 31916 CYP11B2 NM_000498.3:c.1157T>C NP_000489.3:p.Val386Ala NM_000498.3:c.1157T>C:missense variant Benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 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 Autosomal recessive inheritance Childhood 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 +8 142915047 T G Haplotype 16877 RCV000018373 38484 CYP11B2 NM_000498.3:c.594A>C NP_000489.3:p.Glu198Asp NM_000498.3:c.594A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 01, 1998 0 OMIM Corticosterone methyloxidase type 1 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 9814506 Autosomal recessive inheritance Childhood 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 +8 142915100 G A Haplotype 16876 RCV000018372 31915 CYP11B2 NM_000498.3:c.541C>T NP_000489.3:p.Arg181Trp NM_000498.3:c.541C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 01, 1992 0 OMIM Corticosterone methyloxidase type 2 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY 1346492,1594605,3262827,4121586,830445,838841 Autosomal recessive inheritance Childhood 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 +9 2115860 G C Haplotype 374221 RCV000415335 361134 SMARCA2 NM_003070.4:c.3495G>C NP_003061.3:p.Gln1165His NM_003070.4:c.3495G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Laboratory of Molecular Genetics,CHU RENNES Nicolaides-Baraitser syndrome;Nicolaides Baraitser syndrome 26468571 Autosomal dominant inheritance Infancy <1 / 1 000 000 de novo Genetic Alliance:Nicolaides+Baraitser+syndrome/5221;Genetic Testing Registry (GTR):GTR000500623;Genetic Testing Registry (GTR):GTR000506329;Genetic Testing Registry (GTR):GTR000506330;Genetic Testing Registry (GTR):GTR000511780;Genetic Testing Registry (GTR):GTR000551668;Genetics Home Reference:nicolaides-baraitser-syndrome;MedGen:C1303073;OMIM:601358;Orphanet:3051;SNOMED CT:401046009 +9 2123873 G A Haplotype 374221 RCV000415335 361135 SMARCA2 NM_003070.4:c.3917G>A NP_003061.3:p.Arg1306Lys NM_003070.4:c.3917G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Laboratory of Molecular Genetics,CHU RENNES Nicolaides-Baraitser syndrome;Nicolaides Baraitser syndrome 26468571 Autosomal dominant inheritance Infancy <1 / 1 000 000 de novo Genetic Alliance:Nicolaides+Baraitser+syndrome/5221;Genetic Testing Registry (GTR):GTR000500623;Genetic Testing Registry (GTR):GTR000506329;Genetic Testing Registry (GTR):GTR000506330;Genetic Testing Registry (GTR):GTR000511780;Genetic Testing Registry (GTR):GTR000551668;Genetics Home Reference:nicolaides-baraitser-syndrome;MedGen:C1303073;OMIM:601358;Orphanet:3051;SNOMED CT:401046009 +9 34646575 CCAGT C Haplotype 140570 RCV000128642 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 Benign;Pathogenic 1 1 1 criteria provided, conflicting interpretations Sep 22, 2016 1 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 Autosomal recessive inheritance 1-9 / 100 000 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;Genetic Testing Registry (GTR):GTR000502919;Genetic Testing Registry (GTR):GTR000503048;Genetic Testing Registry (GTR):GTR000503054;Genetic Testing Registry (GTR):GTR000507573;Genetic Testing Registry (GTR):GTR000509820;Genetic Testing Registry (GTR):GTR000514614;Genetic Testing Registry (GTR):GTR000529378;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006 +9 34648421 C T Haplotype 3620 RCV000003804 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM GALT POLYMORPHISM (LOS ANGELES, D1);GALT POLYMORPHISM (LOS ANGELES, D1) 10408771,10424825,19224951,2011574,4759900,8522334,9012409 germline OMIM:606999.0012 +9 34649445 A G Haplotype 140570;3620 RCV000128642;RCV000003804 18652 GALT NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp NM_000155.3:c.940A>G:missense variant Benign;Likely benign;Pathogenic;other 1 1 1 criteria provided, conflicting interpretations Jun 17, 2016 1 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;10408771,10424825,19224951,2011574,4759900,8522334,9012409 Autosomal recessive inheritance 1-9 / 100 000 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;Genetic Testing Registry (GTR):GTR000502919;Genetic Testing Registry (GTR):GTR000503048;Genetic Testing Registry (GTR):GTR000503054;Genetic Testing Registry (GTR):GTR000507573;Genetic Testing Registry (GTR):GTR000509820;Genetic Testing Registry (GTR):GTR000514614;Genetic Testing Registry (GTR):GTR000529378;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006;OMIM:606999.0012 +9 37424830 TCC T Haplotype 204246 RCV000186453 200618 GRHPR NM_012203.1:c.84-13_84-12delCC NM_012203.1:c.84-13_84-12delCC:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 27, 2014 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115,20301742 Autosomal recessive inheritance <1 / 1 000 000;unknown, <1 per million loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000328129;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 +9 37424836 TCCCC T Haplotype 204246 RCV000186453 200619 GRHPR NM_012203.1:c.84-8_84-5delCCCC NM_012203.1:c.84-8_84-5delCCCC:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 27, 2014 0 Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115,20301742 Autosomal recessive inheritance <1 / 1 000 000;unknown, <1 per million loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000328129;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 +9 98578034 T C Haplotype 3331 RCV000003495 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 09, 2010 0 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 +9 124500574 G A Haplotype 12809 RCV000013657;RCV000022775 38458 NR5A1 NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu NM_004959.4:c.386C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 08, 2010 0 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 +9 124500592 C G Haplotype 12809 RCV000013657;RCV000022775 27848 NR5A1 NM_004959.4:c.368G>C NP_004950.2:p.Gly123Ala NM_004959.4:c.368G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 08, 2010 0 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 +9 128322879 TGTCCTCCGTCG T Haplotype 417719 RCV000477704 264313 COQ4 NM_016035.4:c.23_33delTCCTCCGTCGG NP_057119.2:p.Val8Alafs NM_016035.4:c.23_33delTCCTCCGTCGG:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Aug 23, 2016 1 Columbia University Medical Center,Columbia University Coenzyme Q10 deficiency, primary, 7 Neonatal <1 / 1 000 000 inherited MedGen:CN228795;OMIM:616276;Orphanet:457185 +9 132327718 G A Haplotype 2294 RCV000002384 38425 SETX NM_015046.5:c.3880C>T NP_055861.3:p.Arg1294Cys NM_015046.5:c.3880C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 23, 2006 0 OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 16717225,20050888,20301317,20301333 Childhood 1-9 / 1 000 000 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 +9 132327789 G A Phase unknown 157525 RCV000144869 167387 SETX NM_015046.5:c.3809C>T NP_055861.3:p.Pro1270Leu NM_015046.5:c.3809C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 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 +9 132328521 C CTCA Distinct chromosomes 157528 RCV000144873 167390 SETX NM_015046.5:c.3075_3076insTGA NP_055861.3:p.Arg1026_Lys1360delinsTer NM_015046.5:c.3075_3076insTGA:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 01, 2013 0 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 +9 132329641 G T Haplotype 2293 RCV000002383 38424 SETX NM_015046.5:c.1957C>A NP_055861.3:p.Gln653Lys NM_015046.5:c.1957C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2007 0 OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168,20050888,20301317,20301333 Childhood 1-9 / 1 000 000 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 +9 132329791 T C Haplotype 2293 RCV000002383 17332 SETX NM_015046.5:c.1807A>G NP_055861.3:p.Asn603Asp NM_015046.5:c.1807A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2007 0 OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168,20050888,20301317,20301333 Childhood 1-9 / 1 000 000 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 +9 132349370 C T Phase unknown 157525 RCV000144869 167386 SETX NM_015046.5:c.59G>A NP_055861.3:p.Arg20His NM_015046.5:c.59G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 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 +9 133255928 C G Haplotype 17738 RCV000019312 38414 ABO NM_020469.2:c.803G>C NP_065202.2:p.Gly268Ala NM_020469.2:c.803G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 18, 2015 0 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 +9 133256264 G A Haplotype 17738 RCV000019312 32777 ABO NM_020469.2:c.467C>T NP_065202.2:p.Pro156Leu NM_020469.2:c.467C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 18, 2015 0 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 +9 133436862 C G Haplotype 5813 RCV000006169 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 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 +9 133437836 G A Haplotype 5813 RCV000006169 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 0 0 0 no assertion provided Sep 03, 2002 0 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 +9 133636672 G A Haplotype 1752 RCV000001822 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Oct 29, 2015 0 OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564,20301647 Infancy <1 / 1 000 000 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 +9 133647854 G A Haplotype 1752 RCV000001822 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Oct 29, 2015 0 OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564,20301647 Infancy <1 / 1 000 000 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 +10 43114496 G C Haplotype 13906 RCV000014920 28945 RET NM_020975.4:c.1896G>C NP_066124.1:p.Glu632Asp NM_020975.4:c.1896G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 1994 0 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 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;Genetic Testing Registry (GTR):GTR000334280;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501592;Genetic Testing Registry (GTR):GTR000501593;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501595;Genetic Testing Registry (GTR):GTR000508799;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000509879;Genetic Testing Registry (GTR):GTR000510673;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;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 +10 43114497 C G Haplotype 13906 RCV000014920 38399 RET NM_020975.4:c.1897C>G NP_066124.1:p.Leu633Val NM_020975.4:c.1897C>G:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Sep 13, 2016 2 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 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;Genetic Testing Registry (GTR):GTR000334280;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501592;Genetic Testing Registry (GTR):GTR000501593;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501595;Genetic Testing Registry (GTR):GTR000508799;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000509879;Genetic Testing Registry (GTR):GTR000510673;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;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 +10 43114500 T C Haplotype 13906 RCV000014920 28956 RET NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg NM_020975.4:c.1900T>C:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Dec 08, 2016 2 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 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;Genetic Testing Registry (GTR):GTR000334280;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501592;Genetic Testing Registry (GTR):GTR000501593;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501595;Genetic Testing Registry (GTR):GTR000508799;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000509879;Genetic Testing Registry (GTR):GTR000510673;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;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 +10 43119548 G A Haplotype 13945 RCV000014972 28984 RET NM_020975.4:c.2410G>A NP_066124.1:p.Val804Met NM_020975.4:c.2410G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Aug 02, 2016 2 OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416,11788682,19469690,20301434,21863057,23788249,24893135,25356965,27854360,8797874,8918855 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;Genetic Testing Registry (GTR):GTR000021494;Genetic Testing Registry (GTR):GTR000323826;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501596;Genetic Testing Registry (GTR):GTR000508800;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000510675;Genetic Testing Registry (GTR):GTR000512292;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 +10 43120184 C G Haplotype 13945 RCV000014972 36303 RET NM_020975.4:c.2711C>G NP_066124.1:p.Ser904Cys NM_020975.4:c.2711C>G:missense variant Uncertain significance 0 0 0 no assertion criteria provided Dec 04, 2012 0 OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416,11788682,19469690,20301434,21863057,23788249,24893135,25356965,27854360,8797874,8918855 Autosomal dominant inheritance 1-9 / 100 000 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;Genetic Testing Registry (GTR):GTR000021494;Genetic Testing Registry (GTR):GTR000323826;Genetic Testing Registry (GTR):GTR000501433;Genetic Testing Registry (GTR):GTR000501488;Genetic Testing Registry (GTR):GTR000501594;Genetic Testing Registry (GTR):GTR000501596;Genetic Testing Registry (GTR):GTR000508800;Genetic Testing Registry (GTR):GTR000509383;Genetic Testing Registry (GTR):GTR000509729;Genetic Testing Registry (GTR):GTR000510675;Genetic Testing Registry (GTR):GTR000512292;Genetic Testing Registry (GTR):GTR000520029;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000522323;Genetic Testing Registry (GTR):GTR000528040;Genetic Testing Registry (GTR):GTR000528367;Genetic Testing Registry (GTR):GTR000528534;Genetic Testing Registry (GTR):GTR000528651;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000528911;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000528913;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 +10 62813491 C A Haplotype 16751 RCV000018235 38481 EGR2 NM_000399.4:c.1147G>T NP_000390.2:p.Asp383Tyr NM_000399.4:c.1147G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Oct 18, 2012 0 OMIM Neuropathy, congenital hypomyelinating, autosomal dominant;NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 9537424 germline MedGen:CN069993 +10 62813492 A C Haplotype 16751 RCV000018235 31790 EGR2 NM_000399.4:c.1146T>G NP_000390.2:p.Ser382Arg NM_000399.4:c.1146T>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Oct 18, 2012 0 OMIM Neuropathy, congenital hypomyelinating, autosomal dominant;NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 9537424 germline MedGen:CN069993 +10 70884002 C T Haplotype 180130 RCV000156929 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 not reported for simple variant 0 0 0 no assertion for the individual variant Oct 01, 2014 0 OMIM Hyperphenylalaninemia, BH4-deficient, D;HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 24848070,9760199 Autosomal recessive inheritance 1-9 / 1 000 000 germline Genetic Alliance:Hyperphenylalaninemia+with+primapterinuria/3595;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;MedGen:C1849700;OMIM:264070;Orphanet:238583 +10 70885854 C A Haplotype 180130 RCV000156929 178311 PCBD1 NM_000281.3:c.79G>T NP_000272.1:p.Glu27Ter NM_000281.3:c.79G>T:nonsense;NM_001289797.1:c.-69G>T:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 01, 2014 0 OMIM Hyperphenylalaninemia, BH4-deficient, D;HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 24848070,9760199 Autosomal recessive inheritance 1-9 / 1 000 000 germline Genetic Alliance:Hyperphenylalaninemia+with+primapterinuria/3595;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;MedGen:C1849700;OMIM:264070;Orphanet:238583 +10 94313343 T C Haplotype 266012 RCV000256386 260792 PLCE1 NM_016341.3:c.6093T>C NP_057425.3:p.Thr2031= NM_016341.3:c.6093T>C:synonymous variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Nephrotic syndrome, type 3 All ages germline Genetic Alliance:Nephrotic+syndrome%2C+type+3/8988;MedGen:C1853124;OMIM:610725;Orphanet:656 +10 94324971 G A Haplotype 266012 RCV000256386 260793 PLCE1 NM_016341.3:c.6800G>A NP_057425.3:p.Arg2267Gln NM_016341.3:c.6800G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Nephrotic syndrome, type 3 All ages germline Genetic Alliance:Nephrotic+syndrome%2C+type+3/8988;MedGen:C1853124;OMIM:610725;Orphanet:656 +10 94942290 C T Haplotype 177709 RCV000154312 23448 CYP2C9 NM_000771.3:c.430C>T NP_000762.2:p.Arg144Cys NM_000771.3:c.430C>T:missense variant drug response 0 0 0 reviewed by expert panel Jul 09, 2015 3 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915,18281922,20504253,24251364,26186657 Alelle frequencies: CYP2C9*2- Caucasians 15%, Hispanics 7%, African-Americans 3%, Asians 3%: CYP2C9*3- Caucasians 6%, Hispanics 6%, African-Americans 2%, Asians 4%: VKORC1*2 (-1639G>A) - Caucasians 41%, Hispanics 44%, African-Americans 11%, Asians 90%. germline Genetic Alliance:Warfarin+response/9469;Genetic Testing Registry (GTR):GTR000500237;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 +10 94981296 A C Haplotype 163021 RCV000150378 23447 CYP2C9 NM_000771.3:c.1075A>C NP_000762.2:p.Ile359Leu NM_000771.3:c.1075A>C:missense variant drug response 0 0 0 reviewed by expert panel Jul 10, 2015 3 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915,18281922,20504253,24251364,26186657 Alelle frequencies: CYP2C9*2- Caucasians 15%, Hispanics 7%, African-Americans 3%, Asians 3%: CYP2C9*3- Caucasians 6%, Hispanics 6%, African-Americans 2%, Asians 4%: VKORC1*2 (-1639G>A) - Caucasians 41%, Hispanics 44%, African-Americans 11%, Asians 90%. germline Genetic Alliance:Warfarin+response/9469;Genetic Testing Registry (GTR):GTR000500237;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 +10 119030538 G A Haplotype 65392 RCV000055619 76326 NANOS1 NM_199461.3:c.737G>A NP_955631.1:p.Arg246His NM_199461.3:c.737G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 2013 0 OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 +10 119030627 CG TA Haplotype 65392 RCV000055619 76327 NANOS1 NM_199461.3:c.826_827delCGinsTA NP_955631.1:p.Arg276Tyr NM_199461.3:c.826_827delCGinsTA:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 2013 0 OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 +10 133526101 G C Haplotype 16887 RCV000018383 136523 CYP2E1 NM_000773.3:c.-1295G>C NM_000773.3:c.-1295G>C:2KB upstream variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 20, 2016 0 OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395,1778977,19444287 germline OMIM:124040.0001 +10 133526341 C T Haplotype 16887 RCV000018383 136524 CYP2E1 NM_000773.3:c.-1055C>T NM_000773.3:c.-1055C>T:2KB upstream variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 20, 2016 0 OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395,1778977,19444287 germline OMIM:124040.0001 +11 2572089 G A Haplotype 3146 RCV000003296 18157 KCNQ1 NM_000218.2:c.760G>A NP_000209.2:p.Val254Met NM_000218.2:c.760G>A:missense variant Likely pathogenic;Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts Oct 03, 2016 2 OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849,12820704,14678125,1475667,14756674,20301308,21810866,23788249,25356965,27854360,8528244,9386136 Autosomal dominant inheritance 1-5 / 10 000 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;Genetic Testing Registry (GTR):GTR000260589;Genetic Testing Registry (GTR):GTR000323829;Genetic Testing Registry (GTR):GTR000500450;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000510878;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520076;Genetic Testing Registry (GTR):GTR000521333;Genetic Testing Registry (GTR):GTR000523357;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000552366;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 +11 2587690 G A Haplotype 3146 RCV000003296 38428 KCNQ1 NM_181798.1:c.868G>A NP_000209.2:p.Val417Met NM_000218.2:c.1249G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 2004 0 OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849,12820704,14678125,1475667,14756674,20301308,21810866,23788249,25356965,27854360,8528244,9386136 Autosomal dominant inheritance 1-5 / 10 000 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;Genetic Testing Registry (GTR):GTR000260589;Genetic Testing Registry (GTR):GTR000323829;Genetic Testing Registry (GTR):GTR000500450;Genetic Testing Registry (GTR):GTR000502615;Genetic Testing Registry (GTR):GTR000510878;Genetic Testing Registry (GTR):GTR000519387;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520076;Genetic Testing Registry (GTR):GTR000521333;Genetic Testing Registry (GTR):GTR000523357;Genetic Testing Registry (GTR):GTR000523361;Genetic Testing Registry (GTR):GTR000528497;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000552366;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 +11 5225609 T A Haplotype 15617 RCV000016884 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Jul 20, 2016 0 OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 +11 5225614 G A Haplotype 15337 RCV000016580 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 01, 1977 0 OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360,19257 germline OMIM:141900.0247 +11 5225618 G C Haplotype 15617 RCV000016884 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 20, 2016 0 OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 +11 5225675 A G Haplotype 15581 RCV000016848 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 +11 5225678 C G Haplotype 15366;15496;15591 RCV000016617;RCV000016758;RCV000016858 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant Pathogenic;other 1 0 0 criteria provided, single submitter Jul 20, 2016 1 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;1177278,1244906,12709369,15108284,16370495,16540414,1787096,19440680,19460936,20437613,20704537,20838957,21119755,2930724,4613830,640855,893136;11570725,1177278,1244906,12709369,15108284,16370495,16540414,19440680,19460936,20437613,20704537,20838957,21119755,2930724,4613830,640855,893136 germline OMIM:141900.0276;OMIM:141900.0407;OMIM:141900.0502 +11 5225678 C T Haplotype 15335;15596 RCV000016577;RCV000016863 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic;other 1 0 0 no assertion criteria provided Jul 20, 2016 0 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;1112610,11179419,11939508,14282052,15108284,15502081,15543018,15710580,15710581,1732017,18254282,19783722,20704537,20854120,2930724,3859465,5481775,5915974,6716421,8195007,893136,9049622,9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0507 +11 5225683 C T Haplotype 15165;15262 RCV000016336;RCV000016486 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 20, 2016 0 OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN MASUDA 20942,7852084;2634673 germline OMIM:141900.0075;OMIM:141900.0172 +11 5225699 G T Haplotype 15262 RCV000016486 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 +11 5225708 C G Haplotype 15165 RCV000016336 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 20, 2016 0 OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942,7852084 germline OMIM:141900.0075 +11 5226597 C T Haplotype 15541 RCV000016807 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 +11 5226606 T C Haplotype 15098 RCV000016251 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 +11 5226612 A G Haplotype 15496 RCV000016758 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 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 +11 5226614 T G Haplotype 15516 RCV000016780 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 +11 5226621 C T Haplotype 15610 RCV000016877 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 +11 5226633 C G Haplotype 15313 RCV000016553 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 +11 5226672 C T Haplotype 15127 RCV000016286 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409,5069596,5490239,5928902 germline OMIM:141900.0039;OMIM:141900.0040 +11 5226687 G A Haplotype 15612 RCV000016879 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216,6166632 germline OMIM:141900.0523 +11 5226695 T A Haplotype 15581 RCV000016848 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 +11 5226716 G C Haplotype 15128 RCV000030905 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575,893143 germline OMIM:141900.0039;OMIM:141900.0040 +11 5226723 C G Haplotype 15313 RCV000016553 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 +11 5226735 C T Haplotype 15497 RCV000016759 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant Benign;Likely benign 0 1 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988,15008267,16178917,18932067,2079433,5097135,640855 germline OMIM:141900.0408 +11 5226738 G A Haplotype 15497 RCV000016759 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 20, 2016 0 OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988,15008267,16178917,18932067,2079433,5097135,640855 germline OMIM:141900.0408 +11 5226794 A T Haplotype 15541 RCV000016807 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 20, 2016 0 OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 +11 5226943 C T Haplotype 15366 RCV000016617 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant Pathogenic;other;protective 1 0 0 no assertion criteria provided Jul 20, 2016 0 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 +11 5226952 C T Haplotype 15334 RCV000016576 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 01, 1997 0 OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492,3467311,9166865 germline OMIM:141900.0244 +11 5226988 C T Haplotype 15596 RCV000016863 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 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 +11 5226993 G T Haplotype 15591 RCV000016858 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 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 +11 5227002 T A Haplotype 15127;15128;15334;15335;15336;15337;15610;15612 RCV000016286;RCV000030905;RCV000016576;RCV000016577;RCV000016579;RCV000016580;RCV000016877;RCV000016879 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic;other;protective 1 0 0 criteria provided, multiple submitters, no conflicts Sep 14, 2016 2 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 +11 5227003 C T Haplotype 15098 RCV000016251 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant Pathogenic;protective 1 0 0 criteria provided, multiple submitters, no conflicts Sep 14, 2016 2 OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 +11 5248393 G C Haplotype 15036 RCV000016180 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 15, 2011 0 OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 +11 5248394 C A Haplotype 15041 RCV000016185 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 18, 2016 0 OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 +11 5249456 G A Haplotype 15036;15041 RCV000016180;RCV000016185 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant Benign;other 0 1 0 no assertion criteria provided Aug 18, 2016 0 OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (PORTO TORRES) 1714434;15666429 germline OMIM:142200.0032;OMIM:142200.0037 +11 36574823 C T Haplotype 13157 RCV000014043 28196 RAG1 NM_000448.2:c.1519C>T NP_000439.1:p.Arg507Trp NM_000448.2:c.1519C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 08, 2008 0 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 +11 36575514 G A Haplotype 13157 RCV000014043 28188 RAG1 NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His NM_000448.2:c.2210G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided May 08, 2008 0 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 +11 44107972 T G Haplotype 218894 RCV000203245 137950 EXT2 NM_000401.3:c.359T>G NP_997005.1:p.Met87Arg NM_207122.1:c.260T>G:missense variant Likely benign;not provided 0 1 0 criteria provided, single submitter Jun 14, 2016 1 OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:CN234668;OMIM:616682 +11 44107995 C T Haplotype 218894 RCV000203245 215653 EXT2 NM_000401.3:c.382C>T NP_997005.1:p.Arg95Cys NM_207122.1:c.283C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 01, 2015 0 OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:CN234668;OMIM:616682 +11 66346080 G A Haplotype 51008 RCV000043695 65678 B4GAT1 NM_006876.2:c.1217C>T NP_006867.1:p.Ala406Val NM_006876.2:c.1217C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 01, 2013 0 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 Infancy <1 / 1 000 000 germline MedGen:C3809042;OMIM:615287;Orphanet:899 +11 66346129 T C Haplotype 51008 RCV000043695 65679 B4GAT1 NM_006876.2:c.1168A>G NP_006867.1:p.Asn390Asp NM_006876.2:c.1168A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 01, 2013 0 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 Infancy <1 / 1 000 000 germline MedGen:C3809042;OMIM:615287;Orphanet:899 +11 66851168 C A CompoundHeterozygote 221279 RCV000207120 222990 PC NM_022172.2:c.2095G>T NP_071504.2:p.Val699Leu NM_001040716.1:c.2095G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 05, 2014 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Pyruvate carboxylase deficiency 20301764 Infancy 1-9 / 1 000 000 germline GeneReviews:NBK6852;Genetic Alliance:Pyruvate+carboxylase+deficiency/6120;MedGen:C0034341;OMIM:266150;Office of Rare Diseases:7512;Orphanet:3008;SNOMED CT:87694001 +11 66851168 C T CompoundHeterozygote 221279 RCV000207120 222991 PC NM_022172.2:c.2095G>A NP_071504.2:p.Val699Met NM_001040716.1:c.2095G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 05, 2014 0 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics Pyruvate carboxylase deficiency 20301764 Infancy 1-9 / 1 000 000 germline GeneReviews:NBK6852;Genetic Alliance:Pyruvate+carboxylase+deficiency/6120;MedGen:C0034341;OMIM:266150;Office of Rare Diseases:7512;Orphanet:3008;SNOMED CT:87694001 +11 72225013 C CG Haplotype 235823 RCV000224773 237478 INPPL1 NM_001567.3:c.35dupG NP_001558.3:p.Ala13Argfs NM_001567.3:c.35dupG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 08, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 +11 72229558 G C Haplotype 235822 RCV000224420 237479 INPPL1 NM_001567.3:c.753G>C NP_001558.3:p.Gln251His NM_001567.3:c.753G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 08, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 +11 72229676 CAG C Haplotype 235825 RCV000224914 237480 INPPL1 NM_001567.3:c.768_769delAG NP_001558.3:p.Glu258Alafs NM_001567.3:c.768_769delAG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jan 08, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 +11 72232303 GTCACC G Haplotype 235823 RCV000224773 237481 INPPL1 NM_001567.3:c.1687_1691delACCTC NP_001558.3:p.Thr563Glyfs NM_001567.3:c.1687_1691delACCTC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 08, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 +11 72234616 G A Haplotype 235825 RCV000224914 48075 INPPL1 NM_001567.3:c.2415+1G>A NM_001567.3:c.2415+1G>A:splice donor variant Pathogenic 1 0 0 no assertion criteria provided Feb 04, 2013 0 University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 +11 121166652 C T Haplotype 7013 RCV000007428 22052 TECTA NM_005422.2:c.5458C>T NP_005413.2:p.Leu1820Phe NM_005422.2:c.5458C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 01, 1998 0 OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607,9590290 Childhood germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 +11 121166665 G A Haplotype 7013 RCV000007428 38440 TECTA NM_005422.2:c.5471G>A NP_005413.2:p.Gly1824Asp NM_005422.2:c.5471G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 01, 1998 0 OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607,9590290 Childhood germline GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 +11 123083826 C T CompoundHeterozygote 243098 RCV000236950 244180 CLMP NM_024769.3:c.410G>A NP_079045.1:p.Cys137Tyr NM_024769.3:c.410G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Clinical Genetics, Erasmus University Medical Center Congenital short bowel syndrome 27352967 Infancy <1 / 1 000 000 not applicable;unknown MedGen:C0021847;OMIM:615237;Orphanet:2301 +11 123097954 T C CompoundHeterozygote 243098 RCV000236950 244181 CLMP NM_024769.3:c.29-2A>G NM_024769.3:c.29-2A>G:splice acceptor variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Clinical Genetics, Erasmus University Medical Center Congenital short bowel syndrome 27352967 Infancy <1 / 1 000 000 not applicable;unknown MedGen:C0021847;OMIM:615237;Orphanet:2301 +12 57500406 G A Haplotype 189364 RCV000169765;RCV000173000 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 07, 2015 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health;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 +12 57512300 C T Haplotype 189364 RCV000169765;RCV000173000 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 07, 2015 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health;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 +12 57763666 C T CompoundHeterozygote 267264 RCV000258015 262266 CYP27B1 NM_000785.3:c.1358G>A NP_000776.1:p.Arg453His NM_000785.3:c.1358G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Oct 09, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Vitamin D-dependent rickets, type 1 25741868 Infancy 1-5 / 10 000 inherited Genetic Alliance:Vitamin+D-dependent+rickets%2C+type+1/9453;MedGen:C0268689;OMIM:264700;OMIM:609506.0001;OMIM:609506.0002;OMIM:609506.0003;OMIM:609506.0004;OMIM:609506.0005;OMIM:609506.0006;OMIM:609506.0007;OMIM:609506.0008;OMIM:609506.0009;OMIM:609506.0010;OMIM:609506.0011;OMIM:609506.0012;OMIM:609506.0013;OMIM:609506.0014;OMIM:609506.0015;OMIM:609506.0016;OMIM:609506.0017;Orphanet:289157;SNOMED CT:67049004 +12 57763698 T TGGGTGGG CompoundHeterozygote 267264 RCV000258015 264701 CYP27B1 NM_000785.3:c.1319_1325dupCCCACCC NP_000776.1:p.Phe443Profs NM_000785.3:c.1319_1325dupCCCACCC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Oct 09, 2016 1 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Vitamin D-dependent rickets, type 1 25741868 Infancy 1-5 / 10 000 inherited Genetic Alliance:Vitamin+D-dependent+rickets%2C+type+1/9453;MedGen:C0268689;OMIM:264700;OMIM:609506.0001;OMIM:609506.0002;OMIM:609506.0003;OMIM:609506.0004;OMIM:609506.0005;OMIM:609506.0006;OMIM:609506.0007;OMIM:609506.0008;OMIM:609506.0009;OMIM:609506.0010;OMIM:609506.0011;OMIM:609506.0012;OMIM:609506.0013;OMIM:609506.0014;OMIM:609506.0015;OMIM:609506.0016;OMIM:609506.0017;Orphanet:289157;SNOMED CT:67049004 +12 80358880 A G Haplotype 229122 RCV000217831 230419 OTOGL NM_173591.3:c.6220A>G NP_775862.3:p.Ile2074Val NM_173591.3:c.6220A>G:missense variant Benign 0 1 0 criteria provided, single submitter Dec 01, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +12 80358881 T C Haplotype 229122 RCV000217831 230420 OTOGL NM_173591.3:c.6221T>C NP_775862.3:p.Ile2074Thr NM_173591.3:c.6221T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 01, 2015 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +12 101757254 G A Haplotype 39094 RCV000032361 47698 GNPTAB NM_024312.4:c.3392C>T NP_077288.2:p.Ser1131Phe NM_024312.4:c.3392C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 10, 2012 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 +12 101757256 A AG Haplotype 39094 RCV000032361 47699 GNPTAB NM_024312.4:c.3388_3389insC NP_077288.2:p.Val1130Alafs NM_024312.4:c.3388_3389insC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant May 10, 2012 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 +12 101761615 G A Haplotype 39093 RCV000032360 47696 GNPTAB NM_024312.4:c.2864C>T NP_077288.2:p.Ala955Val NM_024312.4:c.2864C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 10, 2012 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 +12 101761696 T C Haplotype 39093 RCV000032360 47697 GNPTAB NM_024312.4:c.2783A>G NP_077288.2:p.Lys928Arg NM_024312.4:c.2783A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 10, 2012 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 +12 101780579 T G Haplotype 39095 RCV000032362 47700 GNPTAB NM_024312.4:c.614A>C NP_077288.2:p.Gln205Pro NM_024312.4:c.614A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 10, 2012 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 +12 101786038 A T Haplotype 39095 RCV000032362 47701 GNPTAB NM_024312.4:c.545T>A NP_077288.2:p.Val182Asp NM_024312.4:c.545T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 10, 2012 0 GeneReviews I cell disease;Mucolipidosis II 20301728 Neonatal 1-9 / 1 000 000 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 +12 102852903 G A Haplotype 217885 RCV000201954 15623 PAH NM_000277.1:c.754C>T NP_000268.1:p.Arg252Trp NM_000277.1:c.754C>T:missense variant Likely pathogenic;Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts Apr 26, 2016 2 Mendelics Analise Genomica Phenylketonuria 20301677,21915151,24385074,24667081,2574153,9429153 Autosomal recessive inheritance 1-9 / 100 000 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000271419;Genetic Testing Registry (GTR):GTR000311734;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000501645;Genetic Testing Registry (GTR):GTR000501648;Genetic Testing Registry (GTR):GTR000502151;Genetic Testing Registry (GTR):GTR000502914;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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 +12 102852922 C T Haplotype 402236 RCV000454199 98655 PAH NM_000277.1:c.735G>A NP_000268.1:p.Val245= NM_000277.1:c.735G>A:synonymous variant Benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677,21915151,24385074,24667081,25741868 Autosomal recessive inheritance 1-9 / 100 000 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000271419;Genetic Testing Registry (GTR):GTR000311734;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000501645;Genetic Testing Registry (GTR):GTR000501648;Genetic Testing Registry (GTR):GTR000502151;Genetic Testing Registry (GTR):GTR000502914;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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 +12 102852934 GC G Haplotype 402236 RCV000454199 108542 PAH NM_000277.1:c.722delG NP_000268.1:p.Arg241Profs NM_000277.1:c.722delG:frameshift variant Likely pathogenic;not provided 1 0 0 criteria provided, single submitter Jan 21, 2015 1 Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677,21915151,24385074,24667081,25741868 Autosomal recessive inheritance 1-9 / 100 000 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000271419;Genetic Testing Registry (GTR):GTR000311734;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000501645;Genetic Testing Registry (GTR):GTR000501648;Genetic Testing Registry (GTR):GTR000502151;Genetic Testing Registry (GTR):GTR000502914;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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 +12 102878057 C A Haplotype 217885 RCV000201954 214540 PAH NM_000277.1:c.353-507G>T NM_000277.1:c.353-507G>T:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 07, 2014 0 Mendelics Analise Genomica Phenylketonuria 20301677,21915151,24385074,24667081,2574153,9429153 Autosomal recessive inheritance 1-9 / 100 000 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000271419;Genetic Testing Registry (GTR):GTR000311734;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000501645;Genetic Testing Registry (GTR):GTR000501648;Genetic Testing Registry (GTR):GTR000502151;Genetic Testing Registry (GTR):GTR000502914;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;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 +12 109483552 A G CompoundHeterozygote 156589 RCV000149398 166442 UBE3B NM_130466.3:c.1A>G NP_569733.2:p.Met1Val NM_130466.3:c.1A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 04, 2014 0 Department of Medical Genetics,Oslo University Hospital Kaufman oculocerebrofacial syndrome;Congenital defects;craniofacial dysmorphism;severe psychomotor delay;Kaufman oculocerebrofacial syndrome Childhood;Infancy <1 / 1 000 000 germline GeneTests:320519;Genetic Alliance:Kaufman+oculocerebrofacial+syndrome/3962;Genetics Home Reference:kaufman-oculocerebrofacial-syndrome;MedGen:C1855663;OMIM:244450;Office of Rare Diseases:3084;Orphanet:2707 +12 109510374 TC T CompoundHeterozygote 156589 RCV000149398 166443 UBE3B NM_130466.3:c.1773delC NP_569733.2:p.Gln592Serfs NM_130466.3:c.1773delC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 04, 2014 0 Department of Medical Genetics,Oslo University Hospital Kaufman oculocerebrofacial syndrome;Congenital defects;craniofacial dysmorphism;severe psychomotor delay;Kaufman oculocerebrofacial syndrome Childhood;Infancy <1 / 1 000 000 germline GeneTests:320519;Genetic Alliance:Kaufman+oculocerebrofacial+syndrome/3962;Genetics Home Reference:kaufman-oculocerebrofacial-syndrome;MedGen:C1855663;OMIM:244450;Office of Rare Diseases:3084;Orphanet:2707 +13 20189174 G T Haplotype 267367 RCV000258130 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Likely pathogenic 1 0 0 criteria provided, single submitter Oct 31, 2016 1 OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1,12560944,15633193,20301449,20301607,20497192,24785414 Autosomal recessive inheritance Infancy Congenital deafness affects 1 in 1,000 births;Congenital deafness affects 1 in 1,000 births.;DFNB1 accounts for approximately 50% of congenital, severe-to-profound, autosomal recessive nonsyndromic hearing loss in the United States, France, Britain, and New Zealand/Australia [Denoyelle et al 1997, Green et al 1999]. Its approximate prevalence in the general population is 14:100,000, based on the following calculation: the incidence of congenital hereditary hearing impairment is 1:2000 neonates, of which 70% have nonsyndromic hearing loss. Seventy-five to 80% of cases of nonsyndromic hearing loss are autosomal recessive: of these, 50% result from GJB2 mutations. Thus, 5:10,000 x 0.7 x 0.8 x 0.5 = 14:100,000. germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;Genetic Testing Registry (GTR):GTR000056463;Genetic Testing Registry (GTR):GTR000073172;Genetic Testing Registry (GTR):GTR000091949;Genetic Testing Registry (GTR):GTR000091951;Genetic Testing Registry (GTR):GTR000256512;Genetic Testing Registry (GTR):GTR000323135;Genetic Testing Registry (GTR):GTR000323596;Genetic Testing Registry (GTR):GTR000326557;Genetic Testing Registry (GTR):GTR000335368;Genetic Testing Registry (GTR):GTR000500213;Genetic Testing Registry (GTR):GTR000501122;Genetic Testing Registry (GTR):GTR000501789;Genetic Testing Registry (GTR):GTR000501790;Genetic Testing Registry (GTR):GTR000501845;Genetic Testing Registry (GTR):GTR000502361;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000510415;Genetic Testing Registry (GTR):GTR000512701;Genetic Testing Registry (GTR):GTR000519426;Genetic Testing Registry (GTR):GTR000529595;Genetic Testing Registry (GTR):GTR000552033;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 +13 20189241 T C Haplotype 177819 RCV000154452 53906 GJB2 NM_004004.5:c.341A>G NP_003995.2:p.Glu114Gly NM_004004.5:c.341A>G:missense variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 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 +13 20189448 C T Haplotype 267367 RCV000258130 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter Oct 31, 2016 1 OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1,12560944,15633193,20301449,20301607,20497192,24785414 Autosomal recessive inheritance Infancy Congenital deafness affects 1 in 1,000 births;Congenital deafness affects 1 in 1,000 births.;DFNB1 accounts for approximately 50% of congenital, severe-to-profound, autosomal recessive nonsyndromic hearing loss in the United States, France, Britain, and New Zealand/Australia [Denoyelle et al 1997, Green et al 1999]. Its approximate prevalence in the general population is 14:100,000, based on the following calculation: the incidence of congenital hereditary hearing impairment is 1:2000 neonates, of which 70% have nonsyndromic hearing loss. Seventy-five to 80% of cases of nonsyndromic hearing loss are autosomal recessive: of these, 50% result from GJB2 mutations. Thus, 5:10,000 x 0.7 x 0.8 x 0.5 = 14:100,000. germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;Genetic Testing Registry (GTR):GTR000056463;Genetic Testing Registry (GTR):GTR000073172;Genetic Testing Registry (GTR):GTR000091949;Genetic Testing Registry (GTR):GTR000091951;Genetic Testing Registry (GTR):GTR000256512;Genetic Testing Registry (GTR):GTR000323135;Genetic Testing Registry (GTR):GTR000323596;Genetic Testing Registry (GTR):GTR000326557;Genetic Testing Registry (GTR):GTR000335368;Genetic Testing Registry (GTR):GTR000500213;Genetic Testing Registry (GTR):GTR000501122;Genetic Testing Registry (GTR):GTR000501789;Genetic Testing Registry (GTR):GTR000501790;Genetic Testing Registry (GTR):GTR000501845;Genetic Testing Registry (GTR):GTR000502361;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000510415;Genetic Testing Registry (GTR):GTR000512701;Genetic Testing Registry (GTR):GTR000519426;Genetic Testing Registry (GTR):GTR000529595;Genetic Testing Registry (GTR):GTR000552033;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 +13 20189503 C T Haplotype 177819 RCV000154452 44943 GJB2 NM_004004.5:c.79G>A NP_003995.2:p.Val27Ile NM_004004.5:c.79G>A:missense variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 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 +13 51941111 C T Haplotype 3863 RCV000004067 38430 ATP7B NM_000053.3:c.3526G>A NP_000044.2:p.Gly1176Arg NM_000053.3:c.3526G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 01, 2005 0 OMIM Wilson disease;WILSON DISEASE 15845031,18506894,20301685,20482602,27854360 Autosomal recessive inheritance Childhood 1-9 / 100 000;Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000295690;Genetic Testing Registry (GTR):GTR000313617;Genetic Testing Registry (GTR):GTR000327805;Genetic Testing Registry (GTR):GTR000500144;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):GTR000552033;Genetic Testing Registry (GTR):GTR000552345;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 +13 51941194 A G Haplotype 3863 RCV000004067 18902 ATP7B NM_000053.3:c.3443T>C NP_000044.2:p.Ile1148Thr NM_000053.3:c.3443T>C:missense variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, single submitter Sep 10, 2014 1 OMIM Wilson disease;WILSON DISEASE 15845031,18506894,20301685,20482602,27854360 Autosomal recessive inheritance Childhood 1-9 / 100 000;Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000295690;Genetic Testing Registry (GTR):GTR000313617;Genetic Testing Registry (GTR):GTR000327805;Genetic Testing Registry (GTR):GTR000500144;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):GTR000552033;Genetic Testing Registry (GTR):GTR000552345;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 +13 103049423 G A Haplotype 8241 RCV000008724 38442 SLC10A2 NM_000452.2:c.785C>T NP_000443.1:p.Thr262Met NM_000452.2:c.785C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 15, 1997 0 OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 +13 103051290 A G Haplotype 8241 RCV000008724 23280 SLC10A2 NM_000452.2:c.728T>C NP_000443.1:p.Leu243Pro NM_000452.2:c.728T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 15, 1997 0 OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 +14 28767842 C G Phase unknown 189607 RCV000170068 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 08, 2013 1 RettBASE not provided;Not provided de novo MedGen:CN221809 +14 28767923 TC CT Phase unknown 189607 RCV000170068 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter Feb 08, 2013 1 RettBASE not provided;Not provided de novo MedGen:CN221809 +14 31562125 G A Haplotype 7 RCV000000017 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 0 0 0 criteria provided, single submitter Jul 01, 2016 1 OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383,22072591,23553477,24088041,26633545 All ages germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 +14 31850092 T C Haplotype 7 RCV000000017 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations Aug 31, 2016 1 OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383,22072591,23553477,24088041,26633545 All ages germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 +14 50911725 AGTAC A Haplotype 38368 RCV000020505 46929 PYGL NM_002863.4:c.1969+1_1969+4delGTAC NM_002863.4:c.1969+1_1969+4delGTAC:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant May 17, 2011 0 GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025,20301760 Autosomal recessive inheritance Childhood not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;Genetic Testing Registry (GTR):GTR000500854;Genetic Testing Registry (GTR):GTR000506624;Genetic Testing Registry (GTR):GTR000507589;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 +14 50911730 CTTTTT AAAAAG Haplotype 38368 RCV000020505 46930 PYGL NM_002863.4:c.1964_1969invAAAAAG NP_002854.3:p.Glu655_Lys656del not reported for simple variant 0 0 0 no assertion for the individual variant May 17, 2011 0 GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025,20301760 Autosomal recessive inheritance Childhood not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;Genetic Testing Registry (GTR):GTR000500854;Genetic Testing Registry (GTR):GTR000506624;Genetic Testing Registry (GTR):GTR000507589;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 +14 75103841 C A Haplotype 242987 RCV000234965 248590 NEK9 NM_033116.5:c.1731+1G>T NM_033116.5:c.1731+1G>T:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 11, 2016 0 OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 +14 75103858 C A Haplotype 242987 RCV000234965 244069 NEK9 NM_033116.5:c.1715G>T NP_149107.4:p.Gly572Val NM_033116.5:c.1715G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 11, 2016 0 OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 +14 94381049 G A Haplotype 219354 RCV000205893 33000 SERPINA1 NM_001127707.1:c.739C>T NP_001121179.1:p.Arg247Cys NM_001127701.1:c.739C>T:missense variant Uncertain significance;other 0 0 0 criteria provided, single submitter Jul 15, 2016 1 HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488,20301692,24121147 Autosomal recessive inheritance;Codominant All ages 1-5 / 10 000 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;Genetic Testing Registry (GTR):GTR000258149;Genetic Testing Registry (GTR):GTR000260627;Genetic Testing Registry (GTR):GTR000320960;Genetic Testing Registry (GTR):GTR000500212;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000506377;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000519425;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 +14 94383008 GAGA G Haplotype 17972 RCV000019572 321860 SERPINA1 NM_001127701.1:c.227_229delTCT NP_001121173.1:p.Phe76del NM_001127701.1:c.227_229delTCT:inframe_variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708,6162902 germline OMIM:107400.0017 +14 94383051 G A Haplotype 219354 RCV000205893 33013 SERPINA1 NM_001127701.1:c.187C>T NP_001121173.1:p.Arg63Cys NM_001127701.1:c.187C>T:missense variant Likely pathogenic;Pathogenic;Uncertain significance;other 1 0 0 criteria provided, conflicting interpretations Jul 15, 2016 1 HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488,20301692,24121147 Autosomal recessive inheritance;Codominant All ages 1-5 / 10 000 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;Genetic Testing Registry (GTR):GTR000258149;Genetic Testing Registry (GTR):GTR000260627;Genetic Testing Registry (GTR):GTR000320960;Genetic Testing Registry (GTR):GTR000500212;Genetic Testing Registry (GTR):GTR000500302;Genetic Testing Registry (GTR):GTR000500303;Genetic Testing Registry (GTR):GTR000506377;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000519425;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 +15 40471616 C G Haplotype 2338 RCV000002428 17377 CHST14 NM_130468.3:c.403C>G NP_569735.1:p.Arg135Gly NM_130468.3:c.403C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 01, 2009 0 OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007,20004762 Autosomal recessive inheritance Infancy <1 / 1 000 000 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetic Testing Registry (GTR):GTR000327667;Genetic Testing Registry (GTR):GTR000501091;Genetic Testing Registry (GTR):GTR000506316;Genetic Testing Registry (GTR):GTR000506317;Genetic Testing Registry (GTR):GTR000552603;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 +15 40471623 T A Haplotype 2338 RCV000002428 38426 CHST14 NM_130468.3:c.410T>A NP_569735.1:p.Leu137Gln NM_130468.3:c.410T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 01, 2009 0 OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007,20004762 Autosomal recessive inheritance Infancy <1 / 1 000 000 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetic Testing Registry (GTR):GTR000327667;Genetic Testing Registry (GTR):GTR000501091;Genetic Testing Registry (GTR):GTR000506316;Genetic Testing Registry (GTR):GTR000506317;Genetic Testing Registry (GTR):GTR000552603;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 +15 44565997 G A CompoundHeterozygote 252959 RCV000239393 49777 SPG11 NM_025137.3:c.6856C>T NP_079413.3:p.Arg2286Ter NM_025137.3:c.6856C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided May 28, 2016 0 Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong Spastic paraplegia 11, autosomal recessive 20301389,25741868 1-9 / 1 000 000 germline GeneReviews:NBK1210;Genetic Alliance:Spastic+paraplegia+11/6677;Genetics Home Reference:spastic-paraplegia-type-11;MedGen:C1858479;OMIM:604360;Office of Rare Diseases:4919;Orphanet:2822 +15 44622723 C T CompoundHeterozygote 252959 RCV000239393 247360 SPG11 NM_025137.3:c.2316+5G>A NM_025137.3:c.2316+5G>A:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant May 28, 2016 0 Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong Spastic paraplegia 11, autosomal recessive 20301389,25741868 1-9 / 1 000 000 germline GeneReviews:NBK1210;Genetic Alliance:Spastic+paraplegia+11/6677;Genetics Home Reference:spastic-paraplegia-type-11;MedGen:C1858479;OMIM:604360;Office of Rare Diseases:4919;Orphanet:2822 +15 50490429 T G Haplotype 161994 RCV000149419 171716 USP8 NM_005154.4:c.2138T>G NP_005145.3:p.Leu713Arg NM_001128610.2:c.2138T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 18, 2014 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism Adult 1-9 / 100 000 somatic Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;OMIM:605555.0008;Orphanet:96253;SNOMED CT:190502001 +15 50490441 A G Haplotype 161994 RCV000149419 171717 USP8 NM_005154.4:c.2150A>G NP_005145.3:p.Tyr717Cys NM_001128610.2:c.2150A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 18, 2014 0 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism Adult 1-9 / 100 000 somatic Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;OMIM:605555.0008;Orphanet:96253;SNOMED CT:190502001 +15 50958492 G A Haplotype 224506 RCV000210065 226246 AP4E1 NM_007347.4:c.1549G>A NP_031373.2:p.Val517Ile NM_007347.4:c.1549G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 16, 2016 0 OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121,26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 +15 50997380 G A Haplotype 224506 RCV000210065 226245 AP4E1 NM_007347.4:c.2401G>A NP_031373.2:p.Glu801Lys NM_007347.4:c.2401G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 16, 2016 0 OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121,26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 +15 72351207 C T Haplotype 3923 RCV000004129 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 not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 1996 0 OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222,2976595,8198136,8659543 germline MedGen:C1848916 +15 72351231 C G Haplotype 3923 RCV000004129 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 not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 1996 0 OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222,2976595,8198136,8659543 germline MedGen:C1848916 +15 89321166 A G CompoundHeterozygote 268094 RCV000258814 263528 POLG NM_002693.2:c.2693T>C NP_002684.1:p.Ile898Thr NM_002693.2:c.2693T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 08, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 20301791,25741868 Autosomal recessive inheritance inherited GeneReviews:NBK26471;Genetic Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505;Genetic Testing Registry (GTR):GTR000503087;Genetic Testing Registry (GTR):GTR000508492;Genetic Testing Registry (GTR):GTR000528329;Genetic Testing Registry (GTR):GTR000529356;Genetic Testing Registry (GTR):GTR000529458;Genetic Testing Registry (GTR):GTR000552388;MedGen:C1843851;OMIM:607459;Office of Rare Diseases:9998;Orphanet:254818 +15 89323426 C G Phase unknown 157526 RCV000144870 28546 POLG NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser NM_002693.2:c.2243G>C:missense variant Pathogenic;not provided 1 0 0 criteria provided, multiple submitters, no conflicts Sep 22, 2016 2 Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547,15824347,20301532,22189570,25025039 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 +15 89327006 C G Phase unknown 157526 RCV000144870 28549 POLG NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His NM_002693.2:c.1491G>C:missense variant Pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations Mar 11, 2016 1 Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547,15824347,20301532,22189570,25025039 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 +15 89329042 C A CompoundHeterozygote 268094 RCV000258814 263529 POLG NM_002693.2:c.924G>T NP_002684.1:p.Gln308His NM_002693.2:c.924G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 08, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 20301791,25741868 Autosomal recessive inheritance inherited GeneReviews:NBK26471;Genetic Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505;Genetic Testing Registry (GTR):GTR000503087;Genetic Testing Registry (GTR):GTR000508492;Genetic Testing Registry (GTR):GTR000528329;Genetic Testing Registry (GTR):GTR000529356;Genetic Testing Registry (GTR):GTR000529458;Genetic Testing Registry (GTR):GTR000552388;MedGen:C1843851;OMIM:607459;Office of Rare Diseases:9998;Orphanet:254818 +15 91005693 C A CompoundHeterozygote 375263 RCV000416361 361964 VPS33B NM_018668.4:c.1030+1G>T NM_018668.4:c.1030+1G>T:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 28, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Arthrogryposis renal dysfunction cholestasis syndrome 25741868 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Arthrogryposis+Renal+Dysfunction+Cholestasis+Syndrome/613;MedGen:C1859722;OMIM:208085;Office of Rare Diseases:794;Orphanet:2697 +15 91013842 G A CompoundHeterozygote 375263 RCV000416361 361965 VPS33B NM_018668.4:c.319C>T NP_061138.3:p.Arg107Ter NM_018668.4:c.319C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Dec 28, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Arthrogryposis renal dysfunction cholestasis syndrome 25741868 Neonatal <1 / 1 000 000 inherited Genetic Alliance:Arthrogryposis+Renal+Dysfunction+Cholestasis+Syndrome/613;MedGen:C1859722;OMIM:208085;Office of Rare Diseases:794;Orphanet:2697 +16 177068 A G Haplotype 15762 RCV000017073 30800 HBA1 NM_000558.4:c.235A>G NP_000549.1:p.Asn79Asp NM_000558.4:c.235A>G:missense variant other 0 0 0 no assertion criteria provided Jul 20, 2016 0 OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 +16 177072 C G Haplotype 15762 RCV000017073 38474 HBA1 NM_000558.4:c.239C>G NP_000549.1:p.Ala80Gly NM_000558.4:c.239C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 20, 2016 0 OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 +16 1204325 G A Haplotype 2704 RCV000002823 17743 CACNA1H NM_021098.2:c.2318G>A NP_066921.2:p.Gly773Asp NM_021098.2:c.2318G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 11, 2005 0 OMIM Epilepsy, childhood absence 6;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 12891677,15888660 Adolescent 1-9 / 100 000 germline Genetic Alliance:Epilepsy%2C+childhood+absence+6/8325;MedGen:C2749872;OMIM:611942;Orphanet:64280 +16 1204369 C T Haplotype 2704 RCV000002823 38427 CACNA1H NM_021098.2:c.2362C>T NP_066921.2:p.Arg788Cys NM_021098.2:c.2362C>T:missense variant Benign 0 1 0 criteria provided, single submitter Jul 03, 2013 1 OMIM Epilepsy, childhood absence 6;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 12891677,15888660 Adolescent 1-9 / 100 000 germline Genetic Alliance:Epilepsy%2C+childhood+absence+6/8325;MedGen:C2749872;OMIM:611942;Orphanet:64280 +16 1495524 C T Haplotype 236230 RCV000225207 237798 TELO2 NM_016111.3:c.514C>T NP_057195.2:p.Gln172Ter NM_016111.3:c.514C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Jun 17, 2016 0 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University You-Hoover-Fong syndrome;YOU-HOOVER-FONG SYNDROME 27132593 germline MedGen:CN236793;OMIM:616954 +16 1505602 G A Haplotype 236230 RCV000225207 237812 TELO2 NM_016111.3:c.2034+1G>A NM_016111.3:c.2034+1G>A:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 17, 2016 0 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University You-Hoover-Fong syndrome;YOU-HOOVER-FONG SYNDROME 27132593 germline MedGen:CN236793;OMIM:616954 +16 2060650 T A Haplotype 65347 RCV000055571 76281 TSC2 NM_000548.4:c.976-20T>A NM_000548.4:c.976-20T>A:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 20301399,23519317,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 +16 2081728 C CCTGTACAAGTCA Haplotype 64881 RCV000055081 75810 TSC2 NM_000548.4:c.3745_3756dupCTGTACAAGTCA NP_000539.2:p.Leu1253_Ser1254insTyrLysSerLeu NM_000548.4:c.3745_3756dupCTGTACAAGTCA:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 15798777,20301399,23519317,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 +16 2084578 GCC G Haplotype 65324 RCV000055548 76256 TSC2 NM_000548.4:c.4358_4359delCC NP_000539.2:p.Pro1453Glnfs NM_000548.4:c.4358_4359delCC:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 11468687,20301399,23519317,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 +16 2084582 AGTGGCCTCCGGC A Haplotype 65324 RCV000055548 76257 TSC2 NM_000548.4:c.4361_4372delGTGGCCTCCGGC NP_000539.2:p.Ser1454_Pro1458delinsThr NM_000548.4:c.4361_4372delGTGGCCTCCGGC:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 11468687,20301399,23519317,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 +16 2085278 TACGACACCC T Haplotype 65183 RCV000055400 76115 TSC2 NM_000548.4:c.4621_4629delGACACCCAC NP_000539.2:p.Asp1541_His1543del NM_000548.4:c.4621_4629delGACACCCAC:inframe_variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 20301399,23519317,23788249 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 +16 3243405 C T Haplotype 2555 RCV000002664 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 1 0 0 criteria provided, multiple submitters, no conflicts Dec 15, 2016 2 OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914,10090880,10364520,10612841,10787449,10980540,11484206,11938447,12401847,12929299,12955725,15942916,16255051,17331080,18097735,19967574,20041150,20534143,9668175 Adolescent >1 / 1000 germline Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 +16 3254626 C G Haplotype 2555 RCV000002664 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 Benign;Likely benign;Pathogenic;Uncertain significance 1 1 1 criteria provided, conflicting interpretations Dec 15, 2016 1 OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914,10090880,10364520,10612841,10787449,10980540,11484206,11938447,12401847,12929299,12955725,15942916,16255051,17331080,18097735,19967574,20041150,20534143,9668175 Adolescent >1 / 1000 germline Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 +16 14593355 A AT Phase unknown 180663 RCV000162315 178829 PARN NM_002582.3:c.863dupA NP_002573.1:p.Asn288Lysfs NM_002582.3:c.863dupA:frameshift variant Pathogenic 1 0 0 no assertion criteria provided May 13, 2015 0 Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 Autosomal dominant inheritance germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;Genetic Testing Registry (GTR):GTR000500027;Genetic Testing Registry (GTR):GTR000501116;Genetic Testing Registry (GTR):GTR000514651;Genetic Testing Registry (GTR):GTR000519421;Genetic Testing Registry (GTR):GTR000520395;Genetic Testing Registry (GTR):GTR000520398;Genetic Testing Registry (GTR):GTR000525856;Genetic Testing Registry (GTR):GTR000528069;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000529459;Genetic Testing Registry (GTR):GTR000551316;Genetic Testing Registry (GTR):GTR000552115;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 +16 14608273 ATACT A Phase unknown 180663 RCV000162315 178830 PARN NM_002582.3:c.659+4_659+7delAGTA NM_002582.3:c.659+4_659+7delAGTA:intron variant Pathogenic 1 0 0 no assertion criteria provided May 12, 2015 0 Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 Autosomal dominant inheritance germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;Genetic Testing Registry (GTR):GTR000500027;Genetic Testing Registry (GTR):GTR000501116;Genetic Testing Registry (GTR):GTR000514651;Genetic Testing Registry (GTR):GTR000519421;Genetic Testing Registry (GTR):GTR000520395;Genetic Testing Registry (GTR):GTR000520398;Genetic Testing Registry (GTR):GTR000525856;Genetic Testing Registry (GTR):GTR000528069;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000529459;Genetic Testing Registry (GTR):GTR000551316;Genetic Testing Registry (GTR):GTR000552115;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 +16 15718337 C T Haplotype 14131 RCV000015192 29170 MYH11 NM_001040113.1:c.5294G>A NP_001035202.1:p.Arg1765Gln NM_001040113.1:c.5294G>A:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 01, 2014 1 OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581,16444274,20301299,23788249,24882528,25173340,25356965,27854360 Autosomal dominant inheritance germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000512363;Genetic Testing Registry (GTR):GTR000523358;Genetic Testing Registry (GTR):GTR000523829;Genetic Testing Registry (GTR):GTR000525815;Genetic Testing Registry (GTR):GTR000525817;Genetic Testing Registry (GTR):GTR000525822;Genetic Testing Registry (GTR):GTR000525925;Genetic Testing Registry (GTR):GTR000528386;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 +16 15721421 C A Haplotype 14131 RCV000015192 75290 MYH11 NM_001040113.1:c.4599+1G>T NM_001040113.1:c.4599+1G>T:splice donor variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 2006 0 OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581,16444274,20301299,23788249,24882528,25173340,25356965,27854360 Autosomal dominant inheritance germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetic Testing Registry (GTR):GTR000500400;Genetic Testing Registry (GTR):GTR000500403;Genetic Testing Registry (GTR):GTR000512363;Genetic Testing Registry (GTR):GTR000523358;Genetic Testing Registry (GTR):GTR000523829;Genetic Testing Registry (GTR):GTR000525815;Genetic Testing Registry (GTR):GTR000525817;Genetic Testing Registry (GTR):GTR000525822;Genetic Testing Registry (GTR):GTR000525925;Genetic Testing Registry (GTR):GTR000528386;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 +16 47696408 T C Haplotype 13621 RCV000014591 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 1997 0 OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085,9215682 Childhood germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 +16 47696411 G T Haplotype 13621 RCV000014591 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 1997 0 OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085,9215682 Childhood germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 +16 56868355 C T Haplotype 8596 RCV000009127 23635 SLC12A3 NM_000339.2:c.488C>T NP_000330.2:p.Thr163Met NM_000339.2:c.488C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 26, 2006 0 OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984,21343949 Childhood 1-9 / 100 000 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 +16 56885288 C T CompoundHeterozygote 265793 RCV000256196 260483 SLC12A3 NM_000339.2:c.1849C>T NP_000330.2:p.Gln617Ter NM_000339.2:c.1849C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Sep 06, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Familial hypokalemia-hypomagnesemia 21343949,25741868 Childhood 1-9 / 100 000 unknown Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 +16 56885358 A G CompoundHeterozygote 265793 RCV000256196 260484 SLC12A3 NM_000339.2:c.1919A>G NP_000330.2:p.Asn640Ser NM_000339.2:c.1919A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 06, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Familial hypokalemia-hypomagnesemia 21343949,25741868 Childhood 1-9 / 100 000 unknown Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 +16 56894594 G A Haplotype 8596 RCV000009127 38443 SLC12A3 NM_000339.2:c.2612G>A NP_000330.2:p.Arg871His NM_000339.2:c.2612G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 26, 2006 0 OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984,21343949 Childhood 1-9 / 100 000 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 +16 67942567 G A Haplotype 3667 RCV000003852 38429 LCAT NM_000229.1:c.544C>T NP_000220.1:p.Arg182Cys NM_000229.1:c.544C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 01, 1993 0 OMIM Norum disease;LCAT DEFICIENCY 8432868 All ages <1 / 1 000 000 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 +16 67942939 C T Haplotype 3667 RCV000003852 18706 LCAT NM_000229.1:c.349G>A NP_000220.1:p.Ala117Thr NM_000229.1:c.349G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 01, 1993 0 OMIM Norum disease;LCAT DEFICIENCY 8432868 All ages <1 / 1 000 000 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 +16 88720174 G A Haplotype 55809 RCV000049235 70465 PIEZO1 NM_001142864.3:c.6059C>T NP_001136336.2:p.Ala2020Val NM_001142864.3:c.6059C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 09, 2013 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567,9718354 Infancy <1 / 1 000 000 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 +16 88727144 G A Haplotype 55809 RCV000049235 70466 PIEZO1 NM_001142864.3:c.3350C>T NP_001136336.2:p.Ser1117Leu NM_001142864.3:c.3350C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 09, 2013 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567,9718354 Infancy <1 / 1 000 000 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 +16 88733652 C T Haplotype 55813 RCV000049238 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 02, 2013 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917,23479567,9827909 Infancy <1 / 1 000 000 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 +16 88733731 C T Haplotype 55813 RCV000049238 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 02, 2013 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917,23479567,9827909 Infancy <1 / 1 000 000 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 +16 88734844 G C Haplotype 55813 RCV000049238 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 02, 2013 0 OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917,23479567,9827909 Infancy <1 / 1 000 000 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 +17 7220519 C T Haplotype 1631 RCV000001698 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204,20301763,27209629 Autosomal recessive inheritance Infancy 1 - 9 / 100 000;1-9 / 100 000 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;Genetic Testing Registry (GTR):GTR000328131;Genetic Testing Registry (GTR):GTR000501713;Genetic Testing Registry (GTR):GTR000501716;Genetic Testing Registry (GTR):GTR000506347;Genetic Testing Registry (GTR):GTR000514645;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000521370;Genetic Testing Registry (GTR):GTR000521512;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000530051;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0342784;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 +17 7222068 A C Haplotype 1631 RCV000001698 38417 ACADVL NM_000018.3:c.739A>C NP_000009.1:p.Lys247Gln NM_000018.3:c.739A>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2000 0 OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204,20301763,27209629 Autosomal recessive inheritance Infancy 1 - 9 / 100 000;1-9 / 100 000 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;Genetic Testing Registry (GTR):GTR000328131;Genetic Testing Registry (GTR):GTR000501713;Genetic Testing Registry (GTR):GTR000501716;Genetic Testing Registry (GTR):GTR000506347;Genetic Testing Registry (GTR):GTR000514645;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000521370;Genetic Testing Registry (GTR):GTR000521512;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000530051;Genetic Testing Registry (GTR):GTR000552033;MedGen:C0342784;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 +17 8014699 G C Haplotype 9354;9356 RCV000009948;RCV000009950 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant not provided 0 0 0 no assertion provided Jan 01, 2000 0 OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719,11565546,9097965,9618177;9683616 Autosomal dominant inheritance Childhood 1-9 / 100 000 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetic Testing Registry (GTR):GTR000501118;Genetic Testing Registry (GTR):GTR000520022;Genetic Testing Registry (GTR):GTR000520023;Genetic Testing Registry (GTR):GTR000520060;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 +17 8014700 C A Haplotype 9354 RCV000009948 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant not provided 0 0 0 no assertion provided Jan 01, 2000 0 OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719,11565546,9097965,9618177 Autosomal dominant inheritance Childhood 1-9 / 100 000 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetic Testing Registry (GTR):GTR000501118;Genetic Testing Registry (GTR):GTR000520022;Genetic Testing Registry (GTR):GTR000520023;Genetic Testing Registry (GTR):GTR000520060;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 +17 8014700 C T Haplotype 9356 RCV000009950 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided Feb 01, 2003 0 OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 Autosomal dominant inheritance Childhood 1-9 / 100 000 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetic Testing Registry (GTR):GTR000501118;Genetic Testing Registry (GTR):GTR000520022;Genetic Testing Registry (GTR):GTR000520023;Genetic Testing Registry (GTR):GTR000520060;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 +17 8014704 C T Haplotype 9356 RCV000009950 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant not provided 0 0 0 no assertion provided Aug 01, 1998 0 OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 Autosomal dominant inheritance Childhood 1-9 / 100 000 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetic Testing Registry (GTR):GTR000501118;Genetic Testing Registry (GTR):GTR000520022;Genetic Testing Registry (GTR):GTR000520023;Genetic Testing Registry (GTR):GTR000520060;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 +17 17215294 G TC Haplotype 3377 RCV000003544 243924 FLCN NM_144997.5:c.1323delCinsGA NP_659434.2:p.His442Thrfs NM_144997.5:c.1323delCinsGA:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 2009 0 OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655,19562744,20301695,24319509,25394175 Autosomal dominant inheritance Adult 1-9 / 1 000 000 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetic Testing Registry (GTR):GTR000501362;Genetic Testing Registry (GTR):GTR000501366;Genetic Testing Registry (GTR):GTR000501438;Genetic Testing Registry (GTR):GTR000501439;Genetic Testing Registry (GTR):GTR000501440;Genetic Testing Registry (GTR):GTR000510973;Genetic Testing Registry (GTR):GTR000520030;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000528534;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 +17 17215312 AAACTCTGTAAC A Haplotype 3377 RCV000003544 18416 FLCN NM_144997.5:c.1301-7_1304delGTTACAGAGTT NM_144997.5:c.1301-7_1304delGTTACAGAGTT:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 2009 0 OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655,19562744,20301695,24319509,25394175 Autosomal dominant inheritance Adult 1-9 / 1 000 000 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetic Testing Registry (GTR):GTR000501362;Genetic Testing Registry (GTR):GTR000501366;Genetic Testing Registry (GTR):GTR000501438;Genetic Testing Registry (GTR):GTR000501439;Genetic Testing Registry (GTR):GTR000501440;Genetic Testing Registry (GTR):GTR000510973;Genetic Testing Registry (GTR):GTR000520030;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000528534;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 +17 28357710 G C CompoundHeterozygote 222472 RCV000210786 224173 TMEM199 NM_152464.2:c.40G>C NP_689677.1:p.Ala14Pro NM_152464.2:c.40G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 29, 2016 0 Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center Congenital disorders of glycosylation type II;Congenital disorders of Glycosylation type II 26833330 germline MedGen:CN234782 +17 28360528 G A CompoundHeterozygote 222472 RCV000210786 224174 TMEM199 NM_152464.2:c.376-1G>A NM_152464.2:c.376-1G>A:splice acceptor variant Pathogenic 1 0 0 no assertion criteria provided Feb 29, 2016 0 Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center Congenital disorders of glycosylation type II;Congenital disorders of Glycosylation type II 26833330 germline MedGen:CN234782 +17 31250916 TA T CompoundHeterozygote 217112 RCV000200907 213715 NF1 NM_001042492.2:c.4110+1798del NM_000267.3:c.4110+1798del:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Medical Genomics Laboratory,Department of Genetics UAB Neurofibromatosis, type 1;Neurofibromatosis, type 1 10862084,15604628,17636453,20065170,20301288,24893135,26189818 Autosomal dominant inheritance Infancy 1-5 / 10 000;1:3,000 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;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 +17 42686969 T C CompoundHeterozygote 236196 RCV000225022 237757 CNTNAP1 NM_003632.2:c.967T>C NP_003623.1:p.Cys323Arg NM_003632.2:c.967T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes Lethal congenital contracture syndrome 7 germline Human Phenotype Ontology:HP:0002804;Human Phenotype Ontology:HP:0007108;MedGen:CN228895;OMIM:616286 +17 42690752 G A CompoundHeterozygote 236196 RCV000225022 237756 CNTNAP1 NM_003632.2:c.1869G>A NP_003623.1:p.Trp623Ter NM_003632.2:c.1869G>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant - 0 Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes Lethal congenital contracture syndrome 7 germline Human Phenotype Ontology:HP:0002804;Human Phenotype Ontology:HP:0007108;MedGen:CN228895;OMIM:616286 +17 43095875 T C Haplotype 236265 RCV000225499 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 not reported for simple variant 0 0 0 criteria provided, conflicting interpretations Jul 14, 2016 1 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 Autosomal dominant inheritance All ages 1-9 / 100 000;Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. 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):GTR000520117;Genetic Testing Registry (GTR):GTR000520118;Genetic Testing Registry (GTR):GTR000520119;Genetic Testing Registry (GTR):GTR000520122;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):GTR000552078;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 +17 43095924 T G Haplotype 236265 RCV000225499 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant not reported for simple variant 0 0 0 criteria provided, conflicting interpretations Nov 18, 2016 1 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 Autosomal dominant inheritance All ages 1-9 / 100 000;Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. 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):GTR000520117;Genetic Testing Registry (GTR):GTR000520118;Genetic Testing Registry (GTR):GTR000520119;Genetic Testing Registry (GTR):GTR000520122;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):GTR000552078;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 +17 44911369 C T Haplotype 190352 RCV000192152 77412 GFAP NM_002055.4:c.994G>A NP_002046.1:p.Glu332Lys NM_002055.4:c.994G>A:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided Jan 08, 2015 0 GeneReviews Alexander's disease;Alexander's disease 18004641,20301351,21533827 All ages <1 / 1 000 000 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 +17 44911375 G C Haplotype 190352 RCV000192152 77410 GFAP NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly NM_002055.4:c.988C>G:missense variant not provided 0 0 0 no assertion provided Jan 08, 2015 0 GeneReviews Alexander's disease;Alexander's disease 18004641,20301351,21533827 All ages <1 / 1 000 000 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 +17 44913382 C G Haplotype 190336 RCV000192110 77391 GFAP NM_002055.4:c.667G>C NP_002046.1:p.Glu223Gln NM_002055.4:c.667G>C:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided Jan 08, 2015 0 GeneReviews Alexander's disease;Alexander's disease 14707518,15060693,19444543,20301351,21533827 All ages <1 / 1 000 000 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 +17 44915251 C T Haplotype 190336 RCV000192110 31209 GFAP NM_002055.4:c.236G>A NP_002046.1:p.Arg79His NM_002055.4:c.236G>A:missense variant Pathogenic;not provided 1 0 0 no assertion criteria provided Jan 08, 2015 0 GeneReviews Alexander's disease;Alexander's disease 14707518,15060693,19444543,20301351,21533827 All ages <1 / 1 000 000 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 +17 63941803 C T Haplotype 21158 RCV000020275 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 no assertion criteria provided May 31, 2011 0 GeneReviews Hyperkalemic Periodic Paralysis Type 1 10930446,20298421,20301669 Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1496;GeneTests:2133;Genetic Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591;MedGen:CN074266;OMIM:170500;Orphanet:682 +17 63941814 A G Haplotype 21158 RCV000020275 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 no assertion criteria provided May 31, 2011 0 GeneReviews Hyperkalemic Periodic Paralysis Type 1 10930446,20298421,20301669 Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1496;GeneTests:2133;Genetic Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591;MedGen:CN074266;OMIM:170500;Orphanet:682 +17 75517064 T C Haplotype 2121 RCV000002203 38422 TSEN54 NM_207346.2:c.277T>C NP_997229.2:p.Ser93Pro NM_207346.2:c.277T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Sep 08, 2009 0 OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368,20301773 Autosomal recessive inheritance Antenatal <1 / 1 000 000 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;Genetic Testing Registry (GTR):GTR000320599;Genetic Testing Registry (GTR):GTR000500167;Genetic Testing Registry (GTR):GTR000500222;Genetic Testing Registry (GTR):GTR000507730;Genetic Testing Registry (GTR):GTR000507731;Genetic Testing Registry (GTR):GTR000512857;Genetic Testing Registry (GTR):GTR000528277;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 +17 75522000 G T Haplotype 2121 RCV000002203 17159 TSEN54 NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser NM_207346.2:c.919G>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Aug 29, 2016 2 OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368,20301773 Autosomal recessive inheritance Antenatal <1 / 1 000 000 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;Genetic Testing Registry (GTR):GTR000320599;Genetic Testing Registry (GTR):GTR000500167;Genetic Testing Registry (GTR):GTR000500222;Genetic Testing Registry (GTR):GTR000507730;Genetic Testing Registry (GTR):GTR000507731;Genetic Testing Registry (GTR):GTR000512857;Genetic Testing Registry (GTR):GTR000528277;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 +18 3215158 CAC GAG Haplotype 229030 RCV000221703 230906 MYOM1 NM_003803.3:c.64_66delGTGinsCTC NP_003794.3:p.Val22Leu NM_003803.3:c.64_66delGTGinsCTC:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 08, 2015 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +18 3215159 A C Haplotype 229030 RCV000221703 230904 MYOM1 NM_003803.3:c.65T>G NP_003794.3:p.Val22Gly NM_003803.3:c.65T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 08, 2015 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +18 53467923 A G Haplotype 375288 RCV000416369 362059 DCC NM_005215.3:c.3649A>G NP_005206.2:p.Met1217Val NM_005215.3:c.3649A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2016 0 Neurogenetics Research, Murdoch Childrens Research Institute Corpus callosum agenesis Autosomal recessive inheritance germline Genetic Alliance:Agenesis+of+the+Corpus+Callosum/263;Genetic Testing Registry (GTR):GTR000331025;Genetic Testing Registry (GTR):GTR000512629;Genetic Testing Registry (GTR):GTR000520970;MedGen:C0175754;OMIM:217990;Office of Rare Diseases:1535;Orphanet:200 +18 53486808 G A Haplotype 375288 RCV000416369 362060 DCC NM_005215.3:c.3748G>A NP_005206.2:p.Ala1250Thr NM_005215.3:c.3748G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 01, 2016 0 Neurogenetics Research, Murdoch Childrens Research Institute Corpus callosum agenesis Autosomal recessive inheritance germline Genetic Alliance:Agenesis+of+the+Corpus+Callosum/263;Genetic Testing Registry (GTR):GTR000331025;Genetic Testing Registry (GTR):GTR000512629;Genetic Testing Registry (GTR):GTR000520970;MedGen:C0175754;OMIM:217990;Office of Rare Diseases:1535;Orphanet:200 +18 57550753 A C Haplotype 561 RCV000000591 38381 FECH NM_001012515.2:c.1249T>G NP_001012533.1:p.Cys417Gly NM_000140.3:c.1231T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 15, 2000 0 OMIM Erythropoietic protoporphyria;PROTOPORPHYRIA, ERYTHROPOIETIC 10942404,23016163 Infancy <1 / 1 000 000 germline GeneReviews:NBK100826;Genetic Alliance:Erythropoietic+Protoporphyria/2648;MedGen:C0162568;OMIM:177000;Office of Rare Diseases:4527;Orphanet:79278;SNOMED CT:51022005 +18 57550759 G A Haplotype 561 RCV000000591 38382 FECH NM_001012515.2:c.1243C>T NP_001012533.1:p.Pro415Ser NM_000140.3:c.1225C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 15, 2000 0 OMIM Erythropoietic protoporphyria;PROTOPORPHYRIA, ERYTHROPOIETIC 10942404,23016163 Infancy <1 / 1 000 000 germline GeneReviews:NBK100826;Genetic Alliance:Erythropoietic+Protoporphyria/2648;MedGen:C0162568;OMIM:177000;Office of Rare Diseases:4527;Orphanet:79278;SNOMED CT:51022005 +18 57550760 A T Haplotype 561 RCV000000591 15600 FECH NM_001012515.2:c.1242T>A NP_001012533.1:p.Asn414Lys NM_000140.3:c.1224T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 15, 2000 0 OMIM Erythropoietic protoporphyria;PROTOPORPHYRIA, ERYTHROPOIETIC 10942404,23016163 Infancy <1 / 1 000 000 germline GeneReviews:NBK100826;Genetic Alliance:Erythropoietic+Protoporphyria/2648;MedGen:C0162568;OMIM:177000;Office of Rare Diseases:4527;Orphanet:79278;SNOMED CT:51022005 +19 853329 G T Haplotype 16747 RCV000018231 31786 ELANE NM_001972.3:c.292G>T NP_001963.1:p.Val98Leu NM_001972.3:c.292G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 2007 0 OMIM Severe congenital neutropenia autosomal dominant;NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT 17436313,20301705 Autosomal dominant inheritance Infancy <1 / 1 000 000 germline GeneReviews:NBK1533;Genetic Alliance:Severe+congenital+neutropenia+autosomal+dominant/6527;Genetic Testing Registry (GTR):GTR000302019;Genetic Testing Registry (GTR):GTR000309228;Genetic Testing Registry (GTR):GTR000501114;Genetic Testing Registry (GTR):GTR000509067;Genetic Testing Registry (GTR):GTR000512562;Genetic Testing Registry (GTR):GTR000519424;Genetic Testing Registry (GTR):GTR000519601;Genetic Testing Registry (GTR):GTR000528303;Genetic Testing Registry (GTR):GTR000528905;Genetic Testing Registry (GTR):GTR000529138;Genetic Testing Registry (GTR):GTR000552055;MedGen:C1859966;OMIM:130130.0006;OMIM:130130.0007;OMIM:130130.0008;OMIM:130130.0009;OMIM:130130.0010;OMIM:130130.0011;OMIM:202700;Office of Rare Diseases:9558;Orphanet:486 +19 853338 G T Haplotype 16747 RCV000018231 38480 ELANE NM_001972.3:c.301G>T NP_001963.1:p.Val101Leu NM_001972.3:c.301G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 01, 2007 0 OMIM Severe congenital neutropenia autosomal dominant;NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT 17436313,20301705 Autosomal dominant inheritance Infancy <1 / 1 000 000 germline GeneReviews:NBK1533;Genetic Alliance:Severe+congenital+neutropenia+autosomal+dominant/6527;Genetic Testing Registry (GTR):GTR000302019;Genetic Testing Registry (GTR):GTR000309228;Genetic Testing Registry (GTR):GTR000501114;Genetic Testing Registry (GTR):GTR000509067;Genetic Testing Registry (GTR):GTR000512562;Genetic Testing Registry (GTR):GTR000519424;Genetic Testing Registry (GTR):GTR000519601;Genetic Testing Registry (GTR):GTR000528303;Genetic Testing Registry (GTR):GTR000528905;Genetic Testing Registry (GTR):GTR000529138;Genetic Testing Registry (GTR):GTR000552055;MedGen:C1859966;OMIM:130130.0006;OMIM:130130.0007;OMIM:130130.0008;OMIM:130130.0009;OMIM:130130.0010;OMIM:130130.0011;OMIM:202700;Office of Rare Diseases:9558;Orphanet:486 +19 863114 T G Haplotype 16565 RCV000018033 31604 CFD NM_001928.3:c.638T>G NP_001919.2:p.Val213Gly NM_001928.3:c.638T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 15, 2006 0 OMIM Complement factor d deficiency;COMPLEMENT FACTOR D DEFICIENCY 16527897 Autosomal recessive inheritance germline Genetic Alliance:Complement+factor+d+deficiency/8033;MedGen:C1851396;OMIM:613912 +19 863116 T C Haplotype 16565 RCV000018033 38479 CFD NM_001928.3:c.640T>C NP_001919.2:p.Cys214Arg NM_001928.3:c.640T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jun 15, 2006 0 OMIM Complement factor d deficiency;COMPLEMENT FACTOR D DEFICIENCY 16527897 Autosomal recessive inheritance germline Genetic Alliance:Complement+factor+d+deficiency/8033;MedGen:C1851396;OMIM:613912 +19 5844332 C T Haplotype 17716 RCV000019289 38486 FUT3 NM_000149.3:c.508G>A NP_000140.1:p.Gly170Ser NM_000149.3:c.508G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 18, 2015 0 OMIM Le(-) PHENOTYPE;Le(-) PHENOTYPE 8219240 germline OMIM:111100.0001 +19 5844781 A C Haplotype 17716 RCV000019289 32755 FUT3 NM_000149.3:c.59T>G NP_000140.1:p.Leu20Arg NM_000149.3:c.59T>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 18, 2015 0 OMIM Le(-) PHENOTYPE;Le(-) PHENOTYPE 8219240 germline OMIM:111100.0001 +19 8586353 A G CompoundHeterozygote 279599 RCV000258951 263866 ADAMTS10 NM_030957.3:c.2521T>C NP_112219.3:p.Cys841Arg NM_030957.3:c.2521T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 21, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Weill-Marchesani syndrome 1 20301293,25741868 Infancy 1-9 / 100 000 inherited GeneReviews:NBK1114;Genetic Alliance:Weill-Marchesani+syndrome+1/9472;MedGen:C1869114;OMIM:277600;Orphanet:3449 +19 8586611 G A CompoundHeterozygote 279599 RCV000258951 263867 ADAMTS10 NM_030957.3:c.2350C>T NP_112219.3:p.Gln784Ter NM_030957.3:c.2350C>T:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Nov 21, 2016 0 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital Weill-Marchesani syndrome 1 20301293,25741868 Infancy 1-9 / 100 000 inherited GeneReviews:NBK1114;Genetic Alliance:Weill-Marchesani+syndrome+1/9472;MedGen:C1869114;OMIM:277600;Orphanet:3449 +19 11105552 T TGTGATG Haplotype 250923 RCV000238362 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 not reported for simple variant 0 0 0 no assertion for the individual variant Mar 25, 2016 0 LDLR-LOVD, British Heart Foundation Familial hypercholesterolemia 15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,7649546 Autosomal dominant inheritance 1-9 / 1 000 000 germline Genetic Alliance:Familial+Hypercholesterolemia/2746;Genetic Testing Registry (GTR):GTR000203962;Genetic Testing Registry (GTR):GTR000260633;Genetic Testing Registry (GTR):GTR000320944;Genetic Testing Registry (GTR):GTR000321567;Genetic Testing Registry (GTR):GTR000500234;Genetic Testing Registry (GTR):GTR000500235;Genetic Testing Registry (GTR):GTR000500236;Genetic Testing Registry (GTR):GTR000512385;Genetic Testing Registry (GTR):GTR000520922;Genetic Testing Registry (GTR):GTR000521881;Genetic Testing Registry (GTR):GTR000523352;Genetic Testing Registry (GTR):GTR000523354;Genetic Testing Registry (GTR):GTR000525924;Genetic Testing Registry (GTR):GTR000528325;Genetic Testing Registry (GTR):GTR000528380;Genetic Testing Registry (GTR):GTR000528697;Genetic Testing Registry (GTR):GTR000528701;Genetic Testing Registry (GTR):GTR000552211;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 +19 11105561 GGCCCC G Haplotype 250923 RCV000238362 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 not reported for simple variant 0 0 0 no assertion for the individual variant Mar 25, 2016 0 LDLR-LOVD, British Heart Foundation Familial hypercholesterolemia 15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,7649546 Autosomal dominant inheritance 1-9 / 1 000 000 germline Genetic Alliance:Familial+Hypercholesterolemia/2746;Genetic Testing Registry (GTR):GTR000203962;Genetic Testing Registry (GTR):GTR000260633;Genetic Testing Registry (GTR):GTR000320944;Genetic Testing Registry (GTR):GTR000321567;Genetic Testing Registry (GTR):GTR000500234;Genetic Testing Registry (GTR):GTR000500235;Genetic Testing Registry (GTR):GTR000500236;Genetic Testing Registry (GTR):GTR000512385;Genetic Testing Registry (GTR):GTR000520922;Genetic Testing Registry (GTR):GTR000521881;Genetic Testing Registry (GTR):GTR000523352;Genetic Testing Registry (GTR):GTR000523354;Genetic Testing Registry (GTR):GTR000525924;Genetic Testing Registry (GTR):GTR000528325;Genetic Testing Registry (GTR):GTR000528380;Genetic Testing Registry (GTR):GTR000528697;Genetic Testing Registry (GTR):GTR000528701;Genetic Testing Registry (GTR):GTR000552211;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 +19 11116197 A C Haplotype 3737 RCV000003935 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Likely pathogenic;Pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations Mar 25, 2016 1 OMIM Familial hypercholesterolemia;FH AARHUS 1439789,15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,8528204,9143924 Autosomal dominant inheritance 1-9 / 1 000 000 germline Genetic Alliance:Familial+Hypercholesterolemia/2746;Genetic Testing Registry (GTR):GTR000203962;Genetic Testing Registry (GTR):GTR000260633;Genetic Testing Registry (GTR):GTR000320944;Genetic Testing Registry (GTR):GTR000321567;Genetic Testing Registry (GTR):GTR000500234;Genetic Testing Registry (GTR):GTR000500235;Genetic Testing Registry (GTR):GTR000500236;Genetic Testing Registry (GTR):GTR000512385;Genetic Testing Registry (GTR):GTR000520922;Genetic Testing Registry (GTR):GTR000521881;Genetic Testing Registry (GTR):GTR000523352;Genetic Testing Registry (GTR):GTR000523354;Genetic Testing Registry (GTR):GTR000525924;Genetic Testing Registry (GTR):GTR000528325;Genetic Testing Registry (GTR):GTR000528380;Genetic Testing Registry (GTR):GTR000528697;Genetic Testing Registry (GTR):GTR000528701;Genetic Testing Registry (GTR):GTR000552211;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 +19 11129515 CTCCTCGTCT C Haplotype 3737 RCV000003935 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Likely pathogenic;Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Mar 25, 2016 2 OMIM Familial hypercholesterolemia;FH AARHUS 1439789,15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,8528204,9143924 Autosomal dominant inheritance 1-9 / 1 000 000 germline Genetic Alliance:Familial+Hypercholesterolemia/2746;Genetic Testing Registry (GTR):GTR000203962;Genetic Testing Registry (GTR):GTR000260633;Genetic Testing Registry (GTR):GTR000320944;Genetic Testing Registry (GTR):GTR000321567;Genetic Testing Registry (GTR):GTR000500234;Genetic Testing Registry (GTR):GTR000500235;Genetic Testing Registry (GTR):GTR000500236;Genetic Testing Registry (GTR):GTR000512385;Genetic Testing Registry (GTR):GTR000520922;Genetic Testing Registry (GTR):GTR000521881;Genetic Testing Registry (GTR):GTR000523352;Genetic Testing Registry (GTR):GTR000523354;Genetic Testing Registry (GTR):GTR000525924;Genetic Testing Registry (GTR):GTR000528325;Genetic Testing Registry (GTR):GTR000528380;Genetic Testing Registry (GTR):GTR000528697;Genetic Testing Registry (GTR):GTR000528701;Genetic Testing Registry (GTR):GTR000552211;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 +19 18594338 A C Haplotype 5706 RCV000006060 34280 CRLF1 NM_004750.4:c.1121T>G NP_004741.1:p.Leu374Arg NM_004750.4:c.1121T>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Mar 03, 2011 0 OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788,21370513 Adult <1 / 1 000 000 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 +19 18599720 C T Haplotype 5706 RCV000006060 20745 CRLF1 NM_004750.4:c.242G>A NP_004741.1:p.Arg81His NM_004750.4:c.242G>A:missense variant Benign 0 1 0 no assertion criteria provided Mar 03, 2011 0 OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788,21370513 Adult <1 / 1 000 000 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 +19 35842429 T A Haplotype 6872 RCV000007275 38439 NPHS1 NM_004646.3:c.2456A>T NP_004637.1:p.Asp819Val NM_004646.3:c.2456A>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 01, 2000 0 OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 Autosomal recessive inheritance Infancy germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;Genetic Testing Registry (GTR):GTR000552033;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 +19 35848142 C T Haplotype 6872 RCV000007275 21911 NPHS1 NM_004646.3:c.1339G>A NP_004637.1:p.Glu447Lys NM_004646.3:c.1339G>A:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter Feb 26, 2015 1 OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 Autosomal recessive inheritance Infancy germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;Genetic Testing Registry (GTR):GTR000552033;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 +19 38489352 AAG A Haplotype 29876 RCV000022757 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Sep 07, 2012 0 OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467,20839240,22009146,23788249 Antenatal germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 +19 38504319 C T Haplotype 12985 RCV000013857 28024 RYR1 NM_000540.2:c.8026C>T NP_000531.2:p.Arg2676Trp NM_000540.2:c.8026C>T:missense variant Uncertain significance;not provided 0 0 0 criteria provided, single submitter Dec 02, 2013 1 OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627,14870754,16163667,16917943,20301325,23788249,25356965,27854360 Autosomal dominant inheritance All ages germline GeneReviews:NBK1146;Genetic Testing Registry (GTR):GTR000246332;Genetic Testing Registry (GTR):GTR000501319;Genetic Testing Registry (GTR):GTR000501425;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508750;Genetic Testing Registry (GTR):GTR000520991;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 +19 38505358 C G Haplotype 12985 RCV000013857 38459 RYR1 NM_000540.2:c.8360C>G NP_000531.2:p.Thr2787Ser NM_000540.2:c.8360C>G:missense variant Benign;Likely benign;not provided 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627,14870754,16163667,16917943,20301325,23788249,25356965,27854360 Autosomal dominant inheritance All ages germline GeneReviews:NBK1146;Genetic Testing Registry (GTR):GTR000246332;Genetic Testing Registry (GTR):GTR000501319;Genetic Testing Registry (GTR):GTR000501425;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506311;Genetic Testing Registry (GTR):GTR000506312;Genetic Testing Registry (GTR):GTR000506313;Genetic Testing Registry (GTR):GTR000506314;Genetic Testing Registry (GTR):GTR000508750;Genetic Testing Registry (GTR):GTR000520991;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 +19 38512253 T C Haplotype 29876 RCV000022757 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467,20839240,22009146,23788249 Antenatal germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 +19 41860817 G T Haplotype 6319 RCV000033188 21358 RPS19 NM_001022.3:c.43G>T NP_001013.1:p.Val15Phe NM_001022.3:c.43G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 19, 2009 0 OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610 Autosomal dominant inheritance Childhood 1-9 / 1 000 000 germline Genetic Alliance:Diamond-Blackfan+anemia+1/8226;Genetic Testing Registry (GTR):GTR000320768;Genetic Testing Registry (GTR):GTR000510425;Genetic Testing Registry (GTR):GTR000520412;Genetic Testing Registry (GTR):GTR000525856;MedGen:C2676137;OMIM:105650;Orphanet:124 +19 41861204 C T Haplotype 6319 RCV000033188 38387 RPS19 NM_001022.3:c.164C>T NP_001013.1:p.Thr55Met NM_001022.3:c.164C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 19, 2009 0 OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610 Autosomal dominant inheritance Childhood 1-9 / 1 000 000 germline Genetic Alliance:Diamond-Blackfan+anemia+1/8226;Genetic Testing Registry (GTR):GTR000320768;Genetic Testing Registry (GTR):GTR000510425;Genetic Testing Registry (GTR):GTR000520412;Genetic Testing Registry (GTR):GTR000525856;MedGen:C2676137;OMIM:105650;Orphanet:124 +19 44907777 G A Haplotype 17867 RCV000019453 32888 APOE NM_000041.3:c.61G>A NP_000032.1:p.Glu21Lys NM_000041.3:c.61G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Aug 01, 1995 0 OMIM Hypercholesterolemia and hypertriglyceridemia, type III;HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III 1713245 germline MedGen:C4015875 +19 44907807 G A Haplotype 17860;17867 RCV000019443;RCV000019453 32899 APOE NM_000041.3:c.91G>A NP_000032.1:p.Glu31Lys NM_000041.3:c.91G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Nov 01, 1992 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA;Hypercholesterolemia and hypertriglyceridemia, type III;HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III 1361196,1674745,22962670;1713245 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005;MedGen:C4015875 +19 44907853 T C Haplotype 17870 RCV000019456 32909 APOE NM_000041.3:c.137T>C NP_000032.1:p.Leu46Pro NM_000041.3:c.137T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 15, 2017 0 OMIM APOE4(-)-FREIBURG;APOE4(-)-FREIBURG 21500874 germline OMIM:107741.0023 +19 44908601 C G Haplotype 17872 RCV000019458 32911 APOE NM_000041.3:c.305C>G NP_000032.1:p.Pro102Arg NM_000041.3:c.305C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 05, 2016 0 OMIM APOE4 VARIANT;APOE4 VARIANT 18583979,21500874,2341812,3585172 germline OMIM:107741.0025;OMIM:107741.0028 +19 44908645 G A Haplotype 17873 RCV000019459 32912 APOE NM_000041.3:c.349G>A NP_000032.1:p.Ala117Thr NM_000041.3:c.349G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 2008 0 OMIM APOE3 VARIANT;APOE3 VARIANT 18583979,6327682 germline OMIM:107741.0026 +19 44908684 T C Haplotype 17855;17869;17870;17872 RCV000019438;RCV000019455;RCV000019456;RCV000019458 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic;other 1 0 0 no assertion criteria provided Feb 15, 2017 0 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;21500874,22962670,8488843;21500874;18583979,21500874,2341812,3585172 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005;OMIM:107741.0023;OMIM:107741.0025;OMIM:107741.0028 +19 44908730 G A Haplotype 17856 RCV000019439 32895 APOE NM_000041.3:c.434G>A NP_000032.1:p.Gly145Asp NM_000041.3:c.434G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 01, 1984 0 OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1 6323533 germline +19 44908774 C T Haplotype 17855 RCV000019438 38488 APOE NM_000041.3:c.478C>T NP_000032.1:p.Arg160Cys NM_000041.3:c.478C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 14, 2017 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT 1730728,21500874,22962670,25333069,2539388,6860421 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 +19 44908783 C T Haplotype 17860 RCV000019443 32890 APOE NM_000041.3:c.487C>T NP_000032.1:p.Arg163Cys NM_000041.3:c.487C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Nov 01, 1992 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196,1674745,22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 +19 44908804 G C Haplotype 17873 RCV000019459 38495 APOE NM_000041.3:c.508G>C NP_000032.1:p.Ala170Pro NM_000041.3:c.508G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 2008 0 OMIM APOE3 VARIANT;APOE3 VARIANT 18583979,6327682 germline OMIM:107741.0026 +19 44908822 C T Haplotype 17856;17866;17868 RCV000019439;RCV000019452;RCV000019454 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant drug response 0 0 0 reviewed by expert panel Feb 21, 2017 3 OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1;Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 6323533;22962670,8664327;22962670,8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 +19 44909021 G A Haplotype 17866 RCV000019452 38490 APOE NM_000041.3:c.725G>A NP_000032.1:p.Arg242Gln NM_000041.3:c.725G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 21, 2017 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III 22962670,8664327 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 +19 44909057 T A Haplotype 17868 RCV000019454 38491 APOE NM_000041.3:c.761T>A NP_000032.1:p.Val254Glu NM_000041.3:c.761T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 01, 1993 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 22962670,8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 +19 44909080 G A Haplotype 17854 RCV000019435 32893 APOE NM_000041.3:c.784G>A NP_000032.1:p.Glu262Lys NM_000041.3:c.784G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 01, 1995 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7 22962670,2470732,2738044,7586659 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 +19 44909083 G A Haplotype 17854 RCV000019435 38487 APOE NM_000041.3:c.787G>A NP_000032.1:p.Glu263Lys NM_000041.3:c.787G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 01, 1995 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7 22962670,2470732,2738044,7586659 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 +19 44909101 C G Haplotype 17869 RCV000019455 38492 APOE NM_000041.3:c.805C>G NP_000032.1:p.Arg269Gly NM_000041.3:c.805C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 01, 1993 0 OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 21500874,22962670,8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 +19 46755524 C A Phase unknown 224674 RCV000226653 226485 FKRP NM_024301.4:c.74C>A NP_077277.1:p.Ser25Ter NM_024301.4:c.74C>A:nonsense not reported for simple variant 0 0 0 no assertion for the individual variant Dec 01, 2015 0 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 Autosomal recessive inheritance Adolescent 1-9 / 100 000 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;Genetic Testing Registry (GTR):GTR000501782;Genetic Testing Registry (GTR):GTR000502397;Genetic Testing Registry (GTR):GTR000502450;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520475;Genetic Testing Registry (GTR):GTR000520476;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 +19 46755524 CGT C Phase unknown 224674 RCV000226653 226486 FKRP NM_024301.4:c.76_77delTG NP_077277.1:p.Trp26Alafs NM_024301.4:c.76_77delTG:frameshift variant not reported for simple variant 0 0 0 no assertion for the individual variant Dec 01, 2015 0 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 Autosomal recessive inheritance Adolescent 1-9 / 100 000 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;Genetic Testing Registry (GTR):GTR000501782;Genetic Testing Registry (GTR):GTR000502397;Genetic Testing Registry (GTR):GTR000502450;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520475;Genetic Testing Registry (GTR):GTR000520476;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 +19 46756276 C A Phase unknown 224674 RCV000226653 19260 FKRP NM_024301.4:c.826C>A NP_077277.1:p.Leu276Ile NM_024301.4:c.826C>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Nov 08, 2016 2 Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 Autosomal recessive inheritance Adolescent 1-9 / 100 000 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;Genetic Testing Registry (GTR):GTR000501782;Genetic Testing Registry (GTR):GTR000502397;Genetic Testing Registry (GTR):GTR000502450;Genetic Testing Registry (GTR):GTR000506307;Genetic Testing Registry (GTR):GTR000506308;Genetic Testing Registry (GTR):GTR000506321;Genetic Testing Registry (GTR):GTR000506322;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520475;Genetic Testing Registry (GTR):GTR000520476;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 +19 48965326 C T Haplotype 16477 RCV000017941 31516 FTL NM_000146.3:c.-182C>T NM_000146.3:c.-182C>T:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 19, 2013 0 OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845,9226182 All ages <1 / 1 000 000 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 +19 48965330 T G Haplotype 16477 RCV000017941 260732 FTL NM_000146.3:c.-178T>G NM_000146.3:c.-178T>G:5 prime UTR variant not reported for simple variant 0 0 0 no assertion for the individual variant Feb 19, 2013 0 OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845,9226182 All ages <1 / 1 000 000 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 +19 49016626 A G Haplotype 14414 RCV000015495 38465 LHB NM_000894.2:c.104T>C NP_000885.1:p.Ile35Thr NM_000894.2:c.104T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 2003 0 OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775,10323405,10739843,12620433,1727817,7714098,7904610,8784083 germline OMIM:152780.0002 +19 49016648 A G Haplotype 14414 RCV000015495 29453 LHB NM_000894.2:c.82T>C NP_000885.1:p.Trp28Arg NM_000894.2:c.82T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Mar 01, 2003 0 OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775,10323405,10739843,12620433,1727817,7714098,7904610,8784083 germline OMIM:152780.0002 +20 4699605 A G Haplotype 13399 RCV000014336;RCV000014337 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 0 1 0 criteria provided, single submitter Jun 14, 2016 1 OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE;Fatal familial insomnia 12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20298421,20301407,7709737,9751723;12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20301407,7709737,9751723 Adult <1 / 1 000 000 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 +20 4699752 G A Haplotype 13399 RCV000014336;RCV000014337 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 1 0 0 no assertion criteria provided Jan 05, 2010 0 OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE;Fatal familial insomnia 12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20298421,20301407,7709737,9751723;12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20301407,7709737,9751723 Adult <1 / 1 000 000 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 +20 10412791 C A Haplotype 5308 RCV000005632 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 Uncertain significance 0 0 0 criteria provided, single submitter Dec 17, 2013 1 OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661,16104012,20301675 Childhood germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 +20 10413265 G A Haplotype 5308 RCV000005632 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 not reported for simple variant 0 0 0 no assertion for the individual variant Sep 15, 2005 0 OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661,16104012,20301675 Childhood germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 +20 41114115 A G Haplotype 16773 RCV000018261 31812 PLCG1-AS1 NM_003286.3:c.1598A>G NP_003277.1:p.Asp533Gly NM_003286.3:c.1598A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 11, 1991 0 OMIM DNA topoisomerase I, camptothecin-resistant;DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT 1849260 germline MedGen:C4016020 +20 44626502 G C Haplotype 1981 RCV000002058 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 not reported for simple variant 0 0 0 no assertion for the individual variant Dec 01, 1997 0 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 +20 44626528 T C Haplotype 1981 RCV000002058 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 not reported for simple variant 0 0 0 no assertion for the individual variant Dec 01, 1997 0 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 +21 36461442 A T Haplotype 375673 RCV000417144 19890 CLDN14 NM_012130.3:c.254T>A NP_036262.1:p.Val85Asp NM_001146077.1:c.254T>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Aug 30, 2016 0 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 +21 44901527 C T CompoundHeterozygote 223391 RCV000209072 106624 ITGB2 NM_000211.4:c.706G>A NP_000202.3:p.Gly236Arg NM_000211.4:c.706G>A:missense variant Likely pathogenic 1 0 0 no assertion criteria provided Dec 24, 2015 0 Genomic Research Center,Shahid Beheshti University of Medical Sciences Leukocyte adhesion deficiency type 1;Omphalitis;Leukocyte adhesion deficiency type 1 26639818 Childhood inherited Genetic Alliance:Leukocyte+adhesion+deficiency+type+1/4197;MedGen:C1861766;OMIM:116920;Office of Rare Diseases:6893;Orphanet:2968;Orphanet:99842 +21 44901656 T TG CompoundHeterozygote 223391 RCV000209072 106622 ITGB2 NM_000211.4:c.576dupC NP_000202.3:p.Asn193Glnfs NM_000211.4:c.576dupC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Dec 24, 2015 0 Genomic Research Center,Shahid Beheshti University of Medical Sciences Leukocyte adhesion deficiency type 1;Omphalitis;Leukocyte adhesion deficiency type 1 26639818 Childhood inherited Genetic Alliance:Leukocyte+adhesion+deficiency+type+1/4197;MedGen:C1861766;OMIM:116920;Office of Rare Diseases:6893;Orphanet:2968;Orphanet:99842 +21 46131981 G A Haplotype 29642 RCV000022490 38596 COL6A2 NM_001849.3:c.2489G>A NP_001840.3:p.Arg830Gln NM_001849.3:c.2489G>A:missense variant Likely pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations Jul 08, 2015 1 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 +21 46132019 C T Haplotype 29642 RCV000022490 38597 COL6A2 NM_001849.3:c.2527C>T NP_001840.3:p.Arg843Trp NM_001849.3:c.2527C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter Sep 13, 2016 1 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 +22 23767463 C G Haplotype 180222;204293 RCV000157071;RCV000192234 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 not reported for simple variant 0 0 0 no assertion for the individual variant Apr 14, 2015 0 OMIM;GeneReviews Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783,9324076;2519378 Childhood <1 / 1 000 000 germline MedGen:CN225582;OMIM:616209;Orphanet:457050 +22 23767592 G C Haplotype 204293 RCV000192234 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 not reported for simple variant 0 0 0 no assertion for the individual variant Apr 14, 2015 0 GeneReviews Myopathy, isolated mitochondrial, autosomal dominant;Myopathy, isolated mitochondrial, autosomal dominant 2519378 Childhood <1 / 1 000 000 germline MedGen:CN225582;OMIM:616209;Orphanet:457050 +22 23767592 G T Haplotype 180222 RCV000157071 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 not reported for simple variant 0 0 0 no assertion for the individual variant Feb 02, 2015 0 OMIM Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783,9324076 Childhood <1 / 1 000 000 germline MedGen:CN225582;OMIM:616209;Orphanet:457050 +22 25229472 C A Haplotype 217348 RCV000203383 214001 CRYBB2 NM_000496.2:c.343C>A NP_000487.1:p.Pro115Thr NM_000496.2:c.343C>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 09, 2015 0 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 +22 25229484 G A Haplotype 217348 RCV000203383 214002 CRYBB2 NM_000496.2:c.355G>A NP_000487.1:p.Gly119Arg NM_000496.2:c.355G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 09, 2015 0 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 +22 36265860 A G Haplotype 6080 RCV000006453 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant not provided 0 0 0 no assertion provided Dec 09, 2014 0 OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424,24206458 Childhood germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 +22 36265988 T G Haplotype 6080 RCV000006453 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant not provided 0 0 0 no assertion provided Dec 09, 2014 0 OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424,24206458 Childhood germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 +22 40361619 G C CompoundHeterozygote 208488 RCV000190501 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 not reported for simple variant 0 0 0 no assertion for the individual variant Feb 17, 2014 0 Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474,23519317 Autosomal recessive inheritance Childhood <1 / 1 000 000 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;Genetic Testing Registry (GTR):GTR000506349;Genetic Testing Registry (GTR):GTR000514881;Genetic Testing Registry (GTR):GTR000515526;Genetic Testing Registry (GTR):GTR000520979;Genetic Testing Registry (GTR):GTR000520995;Genetic Testing Registry (GTR):GTR000520996;Genetic Testing Registry (GTR):GTR000529343;Genetic Testing Registry (GTR):GTR000551668;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 +22 40364965 G A CompoundHeterozygote 208488 RCV000190501 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 1 0 0 criteria provided, multiple submitters, no conflicts Jul 27, 2016 2 Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474,23519317 Autosomal recessive inheritance Childhood <1 / 1 000 000 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;Genetic Testing Registry (GTR):GTR000500613;Genetic Testing Registry (GTR):GTR000500614;Genetic Testing Registry (GTR):GTR000506349;Genetic Testing Registry (GTR):GTR000514881;Genetic Testing Registry (GTR):GTR000515526;Genetic Testing Registry (GTR):GTR000520979;Genetic Testing Registry (GTR):GTR000520995;Genetic Testing Registry (GTR):GTR000520996;Genetic Testing Registry (GTR):GTR000529343;Genetic Testing Registry (GTR):GTR000551668;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 +22 41507837 C G CompoundHeterozygote 253012 RCV000169730 187198 ACO2 NM_001098.2:c.220C>G NP_001089.1:p.Leu74Val NM_001098.2:c.220C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 02, 2015 0 OMIM Optic atrophy 9;OPTIC ATROPHY 9 (1 family) 25351951 germline MedGen:CN229336;OMIM:616289 +22 41527315 G A CompoundHeterozygote 253012 RCV000169730 187199 POLR3H NM_001098.2:c.1981G>A NP_001089.1:p.Gly661Arg NM_001098.2:c.1981G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Apr 02, 2015 0 OMIM Optic atrophy 9;OPTIC ATROPHY 9 (1 family) 25351951 germline MedGen:CN229336;OMIM:616289 +22 42126611 C G Haplotype 16895 RCV000018391 38485 CYP2D6 NM_000106.5:c.1457G>C NP_000097.3:p.Ser486Thr NM_000106.5:c.1457G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 18, 2015 0 OMIM Debrisoquine, ultrarapid metabolism of;DEBRISOQUINE, ULTRARAPID METABOLISM OF 7903454,7927337 germline MedGen:C1837157 +22 42127941 G A Haplotype 16895 RCV000018391 31934 CYP2D6 NM_000106.5:c.886C>T NP_000097.3:p.Arg296Cys NM_000106.5:c.886C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 18, 2015 0 OMIM Debrisoquine, ultrarapid metabolism of;DEBRISOQUINE, ULTRARAPID METABOLISM OF 7903454,7927337 germline MedGen:C1837157 +X 13750693 TCTCAAACACTTGGG T Haplotype 11542 RCV000012298 76962 OFD1 NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 2004 0 OMIM Oral-facial-digital syndrome;OROFACIODIGITAL SYNDROME I 15221448,20301367 X-linked inheritance Infancy 1-9 / 1 000 000;Estimates range from 1:250,000 to 1:50,000. germline GeneReviews:NBK1188;Genetic Alliance:Orofaciodigital+syndromes/5428;Genetic Testing Registry (GTR):GTR000322591;Genetic Testing Registry (GTR):GTR000500143;Genetic Testing Registry (GTR):GTR000500190;Genetic Testing Registry (GTR):GTR000501489;Genetic Testing Registry (GTR):GTR000501490;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000514882;Genetic Testing Registry (GTR):GTR000519097;Genetic Testing Registry (GTR):GTR000520051;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528542;Genetic Testing Registry (GTR):GTR000552165;MedGen:C1510460;OMIM:311200;Office of Rare Diseases:4121;Orphanet:2750;SNOMED CT:52868006 +X 22094005 T C Haplotype 10818 RCV000011565 25857 PHEX NM_000444.5:c.755T>C NP_000435.3:p.Phe252Ser NM_000444.5:c.755T>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 01, 1997 0 OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799,7550339,9106524 Childhood germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 +X 22094009 G A Haplotype 10818 RCV000011565 38453 PHEX NM_000444.5:c.759G>A NP_000435.3:p.Met253Ile NM_000444.5:c.759G>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 01, 1997 0 OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799,7550339,9106524 Childhood germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 +X 101403846 G A Haplotype 10723 RCV000011470 38452 RPL36A-HNRNPH2 NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter Aug 30, 2013 1 OMIM Fabry disease;FABRY DISEASE 12735292,1315715,16980809,20301469,20505683,20610207,21934708,23788249,23860966,25173338,25355838,25356965,27854360 Autosomal recessive inheritance;X-linked inheritance;X-linked recessive inheritance Childhood 1-9 / 1 000 000 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):GTR000311196;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000326183;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000330580;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000500441;Genetic Testing Registry (GTR):GTR000502877;Genetic Testing Registry (GTR):GTR000502896;Genetic Testing Registry (GTR):GTR000502949;Genetic Testing Registry (GTR):GTR000502955;Genetic Testing Registry (GTR):GTR000503037;Genetic Testing Registry (GTR):GTR000503042;Genetic Testing Registry (GTR):GTR000503199;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;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 +X 101403984 C G Haplotype 10723 RCV000011470 25762 RPL36A-HNRNPH2 NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Uncertain significance 0 0 0 no assertion criteria provided Jan 24, 2013 0 OMIM Fabry disease;FABRY DISEASE 12735292,1315715,16980809,20301469,20505683,20610207,21934708,23788249,23860966,25173338,25355838,25356965,27854360 Autosomal recessive inheritance;X-linked inheritance;X-linked recessive inheritance Childhood 1-9 / 1 000 000 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):GTR000311196;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000326183;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000330580;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000500441;Genetic Testing Registry (GTR):GTR000502877;Genetic Testing Registry (GTR):GTR000502896;Genetic Testing Registry (GTR):GTR000502949;Genetic Testing Registry (GTR):GTR000502955;Genetic Testing Registry (GTR):GTR000503037;Genetic Testing Registry (GTR):GTR000503042;Genetic Testing Registry (GTR):GTR000503199;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;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 +X 108580713 G T Haplotype 10464 RCV000011210 35671 COL4A5 NM_033380.2:c.866G>T NP_203699.1:p.Gly289Val NM_000495.4:c.866G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Dec 04, 2012 0 OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386,22166944,7706490,9195222 Childhood 1-9 / 100 000 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 +X 108686096 C T Haplotype 10464 RCV000011210 38451 COL4A5 NM_033380.2:c.4282C>T NP_203699.1:p.Arg1428Cys NM_000495.4:c.4264C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Apr 01, 1995 0 OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386,22166944,7706490,9195222 Childhood 1-9 / 100 000 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 +X 136656393 T A Haplotype 11158 RCV000011908 26197 CD40LG NM_000074.2:c.384T>A NP_000065.1:p.Ser128Arg NM_000074.2:c.384T>A:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 29, 1993 0 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 +X 136656395 A G Haplotype 11158 RCV000011908 38454 CD40LG NM_000074.2:c.386A>G NP_000065.1:p.Glu129Gly NM_000074.2:c.386A>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jan 29, 1993 0 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 +X 149482933 C G Haplotype 10502 RCV000011248 25541 IDS NM_000202.7:c.1466G>C NP_000193.1:p.Gly489Ala NM_000202.7:c.1466G>C:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 2003 0 OMIM Mucopolysaccharidosis, MPS-II;MUCOPOLYSACCHARIDOSIS, TYPE II 12794697,20301451,21863056,25071396 X-linked recessive inheritance Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;Genetic Testing Registry (GTR):GTR000317503;Genetic Testing Registry (GTR):GTR000502138;Genetic Testing Registry (GTR):GTR000502487;Genetic Testing Registry (GTR):GTR000502489;Genetic Testing Registry (GTR):GTR000502916;Genetic Testing Registry (GTR):GTR000506477;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000520051;Genetic Testing Registry (GTR):GTR000521892;Genetic Testing Registry (GTR):GTR000522252;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000551442;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 +X 149482935 C A Haplotype 10502 RCV000011248 38394 IDS NM_000202.7:c.1464G>T NP_000193.1:p.Met488Ile NM_000202.7:c.1464G>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Jul 01, 2003 0 OMIM Mucopolysaccharidosis, MPS-II;MUCOPOLYSACCHARIDOSIS, TYPE II 12794697,20301451,21863056,25071396 X-linked recessive inheritance Childhood 1-9 / 1 000 000 germline GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;Genetic Testing Registry (GTR):GTR000317503;Genetic Testing Registry (GTR):GTR000502138;Genetic Testing Registry (GTR):GTR000502487;Genetic Testing Registry (GTR):GTR000502489;Genetic Testing Registry (GTR):GTR000502916;Genetic Testing Registry (GTR):GTR000506477;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000520051;Genetic Testing Registry (GTR):GTR000521892;Genetic Testing Registry (GTR):GTR000522252;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000551442;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 +X 149482996 C T Haplotype 221203 RCV000204179 25537 IDS NM_000202.7:c.1403G>A NP_000193.1:p.Arg468Gln NM_000202.7:c.1403G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Sep 25, 2013 2 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata Mucopolysaccharidosis, MPS-II 18414213,20301451,21863056,25071396 X-linked recessive inheritance Childhood 1-9 / 1 000 000 maternal GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;Genetic Testing Registry (GTR):GTR000317503;Genetic Testing Registry (GTR):GTR000502138;Genetic Testing Registry (GTR):GTR000502487;Genetic Testing Registry (GTR):GTR000502489;Genetic Testing Registry (GTR):GTR000502916;Genetic Testing Registry (GTR):GTR000506477;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000520051;Genetic Testing Registry (GTR):GTR000521892;Genetic Testing Registry (GTR):GTR000522252;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000551442;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 +X 149483005 T A Haplotype 221203 RCV000204179 222899 IDS NM_000202.7:c.1394A>T NP_000193.1:p.Gln465Leu NM_000202.7:c.1394A>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant May 16, 2007 0 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata Mucopolysaccharidosis, MPS-II 18414213,20301451,21863056,25071396 X-linked recessive inheritance Childhood 1-9 / 1 000 000 maternal GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;Genetic Testing Registry (GTR):GTR000317503;Genetic Testing Registry (GTR):GTR000502138;Genetic Testing Registry (GTR):GTR000502487;Genetic Testing Registry (GTR):GTR000502489;Genetic Testing Registry (GTR):GTR000502916;Genetic Testing Registry (GTR):GTR000506477;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000520051;Genetic Testing Registry (GTR):GTR000521892;Genetic Testing Registry (GTR):GTR000522252;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000551442;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 +X 154534390 G A Haplotype 10392 RCV000011127 25430 G6PD NM_000402.4:c.682C>T NP_000393.4:p.Arg228Cys NM_001042351.2:c.592C>T:missense variant other 0 0 0 no assertion criteria provided Apr 18, 2013 0 OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664,4125296 germline MedGen:C4016535 +X 154534438 G A Haplotype 10392 RCV000011127 38393 G6PD NM_000402.4:c.634C>T NP_000393.4:p.Arg212Trp NM_001042351.2:c.544C>T:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 01, 1992 0 OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664,4125296 germline MedGen:C4016535 +X 154534440 T A Haplotype 10382 RCV000011109 25421 G6PD NM_000402.4:c.632A>T NP_000393.4:p.Asp211Val NM_001042351.2:c.542A>T:missense variant Pathogenic;other 1 0 0 criteria provided, single submitter Nov 08, 2016 1 OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1999409,6433630,8956035 germline OMIM:305900.0023 +X 154535277 T C Haplotype 10361;10382 RCV000011075;RCV000011076;RCV000011077;RCV000011078;RCV000011079;RCV000011109 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Likely benign;Pathogenic;not provided;other 1 1 1 criteria provided, conflicting interpretations Nov 08, 2016 1 OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A-;G6PD BETICA;G6PD CASTILLA;G6PD DISTRITO FEDERAL;G6PD TEPIC;G6PD SANTAMARIA 10734064,1303173,1924316,1972698,1999409,2253938,2572288,2836867,2840819,3967887,5448,6015571,7106752,7221827,7291768,903703;1999409,6433630,8956035 X-linked recessive inheritance germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetic Testing Registry (GTR):GTR000500957;Genetic Testing Registry (GTR):GTR000503100;Genetic Testing Registry (GTR):GTR000503114;Genetic Testing Registry (GTR):GTR000520114;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520;OMIM:305900.0002;OMIM:305900.0023 +X 154535336 G C Haplotype 10392 RCV000011127 25431 G6PD NM_000402.4:c.407C>G NP_000393.4:p.Ser136Cys NM_001042351.2:c.317C>G:missense variant not reported for simple variant 0 0 0 no assertion for the individual variant Aug 01, 1992 0 OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664,4125296 germline MedGen:C4016535 +X 154536002 C T Haplotype 10361 RCV000011075;RCV000011076;RCV000011077;RCV000011078;RCV000011079 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant drug response 0 0 0 reviewed by expert panel Nov 08, 2016 3 OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A-;G6PD BETICA;G6PD CASTILLA;G6PD DISTRITO FEDERAL;G6PD TEPIC 10734064,1303173,1924316,1972698,1999409,2253938,2572288,2836867,2840819,3967887,5448,6015571,7106752,7221827,7291768,903703 X-linked recessive inheritance germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetic Testing Registry (GTR):GTR000500957;Genetic Testing Registry (GTR):GTR000503100;Genetic Testing Registry (GTR):GTR000503114;Genetic Testing Registry (GTR):GTR000520114;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520;OMIM:305900.0002 diff --git a/output/b38/multi/clinvar_alleles_example_750_rows.multi.b38.vcf b/output/b38/multi/clinvar_alleles_example_750_rows.multi.b38.vcf index b4e3339..b27c29d 100644 --- a/output/b38/multi/clinvar_alleles_example_750_rows.multi.b38.vcf +++ b/output/b38/multi/clinvar_alleles_example_750_rows.multi.b38.vcf @@ -52,7 +52,7 @@ #CHROM POS ID REF ALT QUAL FILTER INFO 1 7809893 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=224889;RCV=RCV000210468;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Advanced_sleep_phase_syndrome..familial..3|ADVANCED_SLEEP_PHASE_SYNDROME..FAMILIAL..3_(1_family);ALL_PMIDS=26903630;AGE_OF_ONSET=Adolescent;ORIGIN=germline;XREFS=MedGen:CN235882|OMIM:616882|Orphanet:164736 1 7809900 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=224889;RCV=RCV000210468;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Advanced_sleep_phase_syndrome..familial..3|ADVANCED_SLEEP_PHASE_SYNDROME..FAMILIAL..3_(1_family);ALL_PMIDS=26903630;AGE_OF_ONSET=Adolescent;ORIGIN=germline;XREFS=MedGen:CN235882|OMIM:616882|Orphanet:164736 -1 7984971 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=60700;RCV=RCV000007484;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=16240358..20301402;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;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 +1 7984971 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=60700;RCV=RCV000007484;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=16240358..20301402..23279440;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;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 1 11948035 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218321;RCV=RCV000202446;ALLELE_ID=215016;SYMBOL=PLOD1;HGVS_C=NM_000302.3:c.136C>T;HGVS_P=NP_000293.2:p.Arg46Cys;MOLECULAR_CONSEQUENCE=NM_000302.3:c.136C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient;ALL_PMIDS=15979919..20301635;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1462|Genetic_Alliance:Ehlers-Danlos+syndrome%2C+hydroxylysine-deficient/8298|Genetic_Alliance:Nevo+syndrome/5215|Genetic_Testing_Registry_(GTR):GTR000327667|Genetic_Testing_Registry_(GTR):GTR000500398|Genetic_Testing_Registry_(GTR):GTR000500400|Genetic_Testing_Registry_(GTR):GTR000500403|Genetic_Testing_Registry_(GTR):GTR000501090|Genetic_Testing_Registry_(GTR):GTR000509007|Genetic_Testing_Registry_(GTR):GTR000510821|Genetic_Testing_Registry_(GTR):GTR000514633|Genetic_Testing_Registry_(GTR):GTR000515704|Genetic_Testing_Registry_(GTR):GTR000522328|Genetic_Testing_Registry_(GTR):GTR000525812|Genetic_Testing_Registry_(GTR):GTR000529376|MedGen:C0268342|OMIM:153454.0001|OMIM:153454.0002|OMIM:153454.0003|OMIM:153454.0004|OMIM:153454.0005|OMIM:153454.0006|OMIM:153454.0007|OMIM:153454.0008|OMIM:153454.0009|OMIM:153454.0010|OMIM:225400|Orphanet:1900|SNOMED_CT:25606004 1 11974699 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218321;RCV=RCV000202446;ALLELE_ID=215017;SYMBOL=PLOD1;HGVS_C=NM_000302.3:c.2075C>T;HGVS_P=NP_000293.2:p.Pro692Leu;MOLECULAR_CONSEQUENCE=NM_000302.3:c.2075C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient;ALL_PMIDS=15979919..20301635;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1462|Genetic_Alliance:Ehlers-Danlos+syndrome%2C+hydroxylysine-deficient/8298|Genetic_Alliance:Nevo+syndrome/5215|Genetic_Testing_Registry_(GTR):GTR000327667|Genetic_Testing_Registry_(GTR):GTR000500398|Genetic_Testing_Registry_(GTR):GTR000500400|Genetic_Testing_Registry_(GTR):GTR000500403|Genetic_Testing_Registry_(GTR):GTR000501090|Genetic_Testing_Registry_(GTR):GTR000509007|Genetic_Testing_Registry_(GTR):GTR000510821|Genetic_Testing_Registry_(GTR):GTR000514633|Genetic_Testing_Registry_(GTR):GTR000515704|Genetic_Testing_Registry_(GTR):GTR000522328|Genetic_Testing_Registry_(GTR):GTR000525812|Genetic_Testing_Registry_(GTR):GTR000529376|MedGen:C0268342|OMIM:153454.0001|OMIM:153454.0002|OMIM:153454.0003|OMIM:153454.0004|OMIM:153454.0005|OMIM:153454.0006|OMIM:153454.0007|OMIM:153454.0008|OMIM:153454.0009|OMIM:153454.0010|OMIM:225400|Orphanet:1900|SNOMED_CT:25606004 1 25301061 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=202166|208474;RCV=RCV000184007|RCV000190496;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Colsan..Colsan;ALL_TRAITS=Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363 @@ -66,8 +66,6 @@ 1 25375385 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=208474;RCV=RCV000190496;ALLELE_ID=204997;SYMBOL=RHD;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Colsan..Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ORIGIN=unknown;XREFS=MedGen:CN231363 1 25420739 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17709;RCV=RCV000019283;ALLELE_ID=32748;SYMBOL=RHCE;HGVS_C=NM_020485.4:c.48G_eq_;HGVS_P=NP_065231.3:p.Trp16_eq_;MOLECULAR_CONSEQUENCE=NM_020485.4:c.48G_eq_:synonymous_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=RH_C/c_POLYMORPHISM|RH_C/c_POLYMORPHISM;ALL_PMIDS=8220426;ORIGIN=germline;XREFS=OMIM:111700.0002 1 36471472 . TC T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=161983;RCV=RCV000149409;ALLELE_ID=171705;SYMBOL=CSF3R;HGVS_C=NM_156039.3:c.1245delG;HGVS_P=NP_724781.1:p.Thr416Profs;MOLECULAR_CONSEQUENCE=NM_156039.3:c.1245delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Klein_lab..Ludwig-Maximilians-University;ALL_TRAITS=Severe_congenital_neutropenia|Severe_congenital_neutropenia;ALL_PMIDS=24753537;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=germline;XREFS=Genetics_Home_Reference:severe-congenital-neutropenia|MedGen:C1853118|OMIM:PS202700|Orphanet:42738 -1 45507544 . T TA . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218900;RCV=RCV000203236;ALLELE_ID=16460;SYMBOL=MMACHC;HGVS_C=NM_015506.2:c.271dupA;HGVS_P=NP_056321.2:p.Arg91Lysfs;MOLECULAR_CONSEQUENCE=NM_015506.2:c.271dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Bull's_eye_maculopathy|Methylmalonic_acidemia_with_homocystinuria;ALL_PMIDS=20301503..23806086..24088041..25687216;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=All_ages|Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1328|Genetic_Alliance:Methylmalonic+acidemia+with+homocystinuria/4715|Genetics_Home_Reference:methylmalonic-acidemia-with-homocystinuria|MedGen:C1828210|MedGen:C1848561|MedGen:CN220153|OMIM:153870|OMIM:277400|Office_of_Rare_Diseases:3579|Office_of_Rare_Diseases:9887|Orphanet:251287|Orphanet:26|Orphanet:79282|SNOMED_CT:424169002 -1 45508848 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218900;RCV=RCV000203236;ALLELE_ID=16464;SYMBOL=MMACHC;HGVS_C=NM_015506.2:c.482G>A;HGVS_P=NP_056321.2:p.Arg161Gln;MOLECULAR_CONSEQUENCE=NM_015506.2:c.482G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Bull's_eye_maculopathy|Methylmalonic_acidemia_with_homocystinuria;ALL_PMIDS=20301503..23806086..24088041..25687216;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=All_ages|Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1328|Genetic_Alliance:Methylmalonic+acidemia+with+homocystinuria/4715|Genetics_Home_Reference:methylmalonic-acidemia-with-homocystinuria|MedGen:C1828210|MedGen:C1848561|MedGen:CN220153|OMIM:153870|OMIM:277400|Office_of_Rare_Diseases:3579|Office_of_Rare_Diseases:9887|Orphanet:251287|Orphanet:26|Orphanet:79282|SNOMED_CT:424169002 1 53210729 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=30118;RCV=RCV000023026;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Encephalopathy..acute..infection-induced..4..susceptibility_to|ENCEPHALOPATHY..ACUTE..INFECTION-INDUCED..SUSCEPTIBILITY_TO..4;ALL_PMIDS=15811315..18306170..20934285..21697855;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Genetic_Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308|MedGen:C3280160|OMIM:614212|Orphanet:263524 1 53210776 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=30118;RCV=RCV000023026;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Encephalopathy..acute..infection-induced..4..susceptibility_to|ENCEPHALOPATHY..ACUTE..INFECTION-INDUCED..SUSCEPTIBILITY_TO..4;ALL_PMIDS=15811315..18306170..20934285..21697855;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Genetic_Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308|MedGen:C3280160|OMIM:614212|Orphanet:263524 1 53210911 . CAG C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=60702;RCV=RCV000202553;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Carnitine_palmitoyltransferase_II_deficiency|Carnitine_palmitoyltransferase_II_deficiency;ALL_PMIDS=10090476..20301431..25173338;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1253|Genetic_Testing_Registry_(GTR):GTR000530033|Genetic_Testing_Registry_(GTR):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552216|MedGen:C0342790|Office_of_Rare_Diseases:1121|SNOMED_CT:238002005 @@ -76,31 +74,24 @@ 1 54865442 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4368;RCV=RCV000004616;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Desmosterolosis|DESMOSTEROLOSIS;ALL_PMIDS=11519011;AGE_OF_ONSET=Antenatal;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneTests:238860|Genetic_Alliance:Desmosterolosis/2221|MedGen:C1865596|OMIM:602398|Office_of_Rare_Diseases:10283|Orphanet:35107 1 94001992 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236131;RCV=RCV000408516;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=Likely_benign|Likely_pathogenic|Pathogenic|Uncertain_significance|not_provided;PATHOGENIC=1;BENIGN=1;CONFLICTED=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 1 94005499 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236068;RCV=RCV000408532;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=Likely_pathogenic|Pathogenic|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 -1 94008251 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216882;RCV=RCV000197749;ALLELE_ID=22927;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.5882G>A;HGVS_P=NP_000341.2:p.Gly1961Glu;MOLECULAR_CONSEQUENCE=NM_000350.2:c.5882G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic|not_provided|risk_factor;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Stargardt_disease_1|Stargardt_disease_1;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=unknown;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 1 94014622 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236131;RCV=RCV000408516;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=not_provided;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 1 94019625 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236092;RCV=RCV000408474;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 -1 94027417 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=225694;RCV=RCV000211040;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 +1 94027417 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=225694;RCV=RCV000211040;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198..28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 1 94042800 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236091;RCV=RCV000408579;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 -1 94043413 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7901;RCV=RCV000008358|RCV000008359;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|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Stargardt_disease_1|STARGARDT_DISEASE_1|Cone-rod_dystrophy_3;ALL_PMIDS=10958761..10958763..12796258..16103129;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent|Childhood;PREVALENCE=1-5_/_10_000|1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|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 -1 94051698 . C G . . MEASURESET_TYPE=CompoundHeterozygote|Haplotype;MEASURESET_ID=216882|236091|236092;RCV=RCV000197749|RCV000408579|RCV000408474;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=Pathogenic|Uncertain_significance|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA|Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=25326637|28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=unknown|germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 -1 94063250 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7901;RCV=RCV000008358|RCV000008359;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=Pathogenic|Uncertain_significance|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Stargardt_disease_1|STARGARDT_DISEASE_1|Cone-rod_dystrophy_3;ALL_PMIDS=10958761..10958763..12796258..16103129;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent|Childhood;PREVALENCE=1-5_/_10_000|1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|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 -1 94111370 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=225694;RCV=RCV000211040;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 +1 94043413 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7901;RCV=RCV000008358|RCV000008359;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|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Stargardt_disease_1|STARGARDT_DISEASE_1|Cone-rod_dystrophy_3;ALL_PMIDS=10958761..10958763..12796258..16103129..28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent|Childhood;PREVALENCE=1-5_/_10_000|1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|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 +1 94051698 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236091|236092;RCV=RCV000408579|RCV000408474;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=Pathogenic|Uncertain_significance|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 +1 94063250 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7901;RCV=RCV000008358|RCV000008359;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=Pathogenic|Uncertain_significance|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Stargardt_disease_1|STARGARDT_DISEASE_1|Cone-rod_dystrophy_3;ALL_PMIDS=10958761..10958763..12796258..16103129..28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent|Childhood;PREVALENCE=1-5_/_10_000|1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|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 +1 94111370 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=225694;RCV=RCV000211040;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198..28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 1 94121045 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236068;RCV=RCV000408532;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|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 -1 99864536 . T A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202183;RCV=RCV000184029;ALLELE_ID=198606;SYMBOL=AGL;HGVS_C=NM_000642.2:c.611T>A;HGVS_P=NP_000633.2:p.Leu204Ter;MOLECULAR_CONSEQUENCE=NM_000642.2:c.611T>A:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Glycogen_storage_disease_type_III|Glycogen_storage_disease_type_III;ALL_PMIDS=12955720..20301788..20631546;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK26372|Genetic_Alliance:Glycogen+Storage+Disease+Type+3/3123|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0017922|OMIM:232400|Orphanet:366|SNOMED_CT:66937008 -1 99875455 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202183;RCV=RCV000184029;ALLELE_ID=198607;SYMBOL=AGL;HGVS_C=NM_000642.2:c.1283G>A;HGVS_P=NP_000633.2:p.Arg428Lys;MOLECULAR_CONSEQUENCE=NM_000642.2:c.1283G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Glycogen_storage_disease_type_III|Glycogen_storage_disease_type_III;ALL_PMIDS=12955720..20301788..20631546;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK26372|Genetic_Alliance:Glycogen+Storage+Disease+Type+3/3123|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0017922|OMIM:232400|Orphanet:366|SNOMED_CT:66937008 1 115726998 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=228471;RCV=RCV000217394;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=Benign|Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 115726999 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=228471;RCV=RCV000217394;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 155235003 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236404;RCV=RCV000225494;ALLELE_ID=237954;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1603C>T;HGVS_P=NP_001005741.1:p.Arg535Cys;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1603C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Gaucher's_disease..type_1|Hepatomegaly|Splenomegaly|Strabismus|Infantile_muscular_hypotonia|Storage_cells_in_bone_marrow_suggestive_of_Gaucher_Disease;ALL_PMIDS=18197057..19888064..20301446;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|HP:HP:0000486|HP:HP:0001744|HP:HP:0002240|HP:HP:0008947|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009 1 155235203 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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..1972019..19888064..20301446..2349952..2914709..7857677..8929950|10685993..1437405..1594045..1972019..20301446..2349952..2914709..7857677..8929950;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;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|Genetic_Testing_Registry_(GTR):GTR000552033|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 1 155235217 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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..1972019..19888064..20301446..2349952..2914709..7857677..8929950|10685993..1437405..1594045..1972019..20301446..2349952..2914709..7857677..8929950;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;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|Genetic_Testing_Registry_(GTR):GTR000552033|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 -1 155235252 . A G . . MEASURESET_TYPE=CompoundHeterozygote|Haplotype;MEASURESET_ID=236401|236403|4297;RCV=RCV000225500|RCV000225393|RCV000004533|RCV000004534|RCV000004535|RCV000004536;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics|OMIM;ALL_TRAITS=Gaucher's_disease..type_1|Tricuspid_regurgitation|Mild_Hepatomegaly_with_peripancreatic_nodus|Storage_cells_in_bone_marrow_suggestive_of_Gaucher_Disease|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=18197057..19888064..20301446|10685993..1437405..1594045..18197057..1972019..19888064..20301446..2349952..2914709..7857677..8929950|10685993..1437405..1594045..1972019..20301446..2349952..2914709..7857677..8929950;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|HP:HP:0005180|Genetic_Alliance:Gaucher+Disease+Type+2/3003|Genetic_Testing_Registry_(GTR):GTR000552033|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 +1 155235252 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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..1972019..19888064..20301446..2349952..2914709..7857677..8929950|10685993..1437405..1594045..1972019..20301446..2349952..2914709..7857677..8929950;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;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|Genetic_Testing_Registry_(GTR):GTR000552033|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 1 155235727 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4334;RCV=RCV000004580|RCV000004581;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Acute_neuronopathic_Gaucher's_disease|GAUCHER_DISEASE..TYPE_II|Subacute_neuronopathic_Gaucher's_disease;ALL_PMIDS=15690354..20301446;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+2/3003|Genetic_Testing_Registry_(GTR):GTR000552033|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 -1 155236272 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236404;RCV=RCV000225494;ALLELE_ID=237957;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1197G>T;HGVS_P=NP_001005741.1:p.Gly399_eq_;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1197G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Gaucher's_disease..type_1|Hepatomegaly|Splenomegaly|Strabismus|Infantile_muscular_hypotonia|Storage_cells_in_bone_marrow_suggestive_of_Gaucher_Disease;ALL_PMIDS=18197057..19888064..20301446;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|HP:HP:0000486|HP:HP:0001744|HP:HP:0002240|HP:HP:0008947|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009 1 155236376 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4299;RCV=RCV000004538;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=Benign|risk_factor;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I;ALL_PMIDS=10079102..11903352..15146461..18197057..1864608..19888064..20301446;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009 1 155237458 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4334;RCV=RCV000004580|RCV000004581;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Acute_neuronopathic_Gaucher's_disease|GAUCHER_DISEASE..TYPE_II|Subacute_neuronopathic_Gaucher's_disease;ALL_PMIDS=15690354..20301446;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+2/3003|Genetic_Testing_Registry_(GTR):GTR000552033|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 1 155238570 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4299;RCV=RCV000004538;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I;ALL_PMIDS=10079102..11903352..15146461..18197057..1864608..19888064..20301446;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009 -1 155239663 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236401;RCV=RCV000225500;ALLELE_ID=237961;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.407C>T;HGVS_P=NP_001005741.1:p.Ser136Leu;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.407C>T:missense_variant|NM_001171812.1:c.307+223C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Gaucher's_disease..type_1;ALL_PMIDS=18197057..19888064..20301446;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009 -1 155240026 . A C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236403;RCV=RCV000225393;ALLELE_ID=237962;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.167T>G;HGVS_P=NP_001005741.1:p.Val56Gly;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.167T>G:missense_variant|NM_001171811.1:c.-95T>G:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Gaucher's_disease..type_1|Tricuspid_regurgitation|Mild_Hepatomegaly_with_peripancreatic_nodus|Storage_cells_in_bone_marrow_suggestive_of_Gaucher_Disease;ALL_PMIDS=18197057..19888064..20301446;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|HP:HP:0005180|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009 1 156860959 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12304;RCV=RCV000030667;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344..11159935..20301726;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;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 1 156879126 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12304;RCV=RCV000030667;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=Benign|Likely_benign|Pathogenic;PATHOGENIC=1;BENIGN=1;CONFLICTED=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344..11159935..20301726;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;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 1 156879154 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12304;RCV=RCV000030667;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=Benign|Likely_benign|Pathogenic;PATHOGENIC=1;BENIGN=1;CONFLICTED=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344..11159935..20301726;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;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 @@ -120,73 +111,29 @@ 1 179575916 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=225143;RCV=RCV000210779;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;ALL_TRAITS=Nephrotic_syndrome..idiopathic..steroid-resistant;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;ORIGIN=unknown;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C1868672|OMIM:600995|Office_of_Rare_Diseases:3946|Orphanet:656 1 183574507 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2240;RCV=RCV000002328;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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=9070911;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977|Genetics_Home_Reference:chronic-granulomatous-disease|MedGen:C1856245|OMIM:233710|Orphanet:379 1 183574509 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2240;RCV=RCV000002328;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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=9070911;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977|Genetics_Home_Reference:chronic-granulomatous-disease|MedGen:C1856245|OMIM:233710|Orphanet:379 -1 197086966 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156118;RCV=RCV000162061;ALLELE_ID=165918;SYMBOL=ASPM;HGVS_C=NM_018136.4:c.10168C>T;HGVS_P=NP_060606.3:p.Arg3390Ter;MOLECULAR_CONSEQUENCE=NM_018136.4:c.10168C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Primary_autosomal_recessive_microcephaly_5|Primary_autosomal_recessive_microcephaly_5;ALL_PMIDS=20301772..25786579;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK9587|Genetic_Alliance:Primary+autosomal+recessive+microcephaly+5/9159|Genetic_Testing_Registry_(GTR):GTR000319354|Genetic_Testing_Registry_(GTR):GTR000500121|Genetic_Testing_Registry_(GTR):GTR000500373|Genetic_Testing_Registry_(GTR):GTR000507771|Genetic_Testing_Registry_(GTR):GTR000512732|Genetic_Testing_Registry_(GTR):GTR000515566|Genetic_Testing_Registry_(GTR):GTR000527475|MedGen:C1837501|OMIM:608716|Orphanet:2512 -1 197101153 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156118;RCV=RCV000162061;ALLELE_ID=165917;SYMBOL=ASPM;HGVS_C=NM_018136.4:c.8098C>T;HGVS_P=NP_060606.3:p.Arg2700Ter;MOLECULAR_CONSEQUENCE=NM_001206846.1:c.4066-4989C>T:intron_variant|NM_018136.4:c.8098C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Primary_autosomal_recessive_microcephaly_5|Primary_autosomal_recessive_microcephaly_5;ALL_PMIDS=20301772..25786579;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK9587|Genetic_Alliance:Primary+autosomal+recessive+microcephaly+5/9159|Genetic_Testing_Registry_(GTR):GTR000319354|Genetic_Testing_Registry_(GTR):GTR000500121|Genetic_Testing_Registry_(GTR):GTR000500373|Genetic_Testing_Registry_(GTR):GTR000507771|Genetic_Testing_Registry_(GTR):GTR000512732|Genetic_Testing_Registry_(GTR):GTR000515566|Genetic_Testing_Registry_(GTR):GTR000527475|MedGen:C1837501|OMIM:608716|Orphanet:2512 1 209706871 . C CA . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8911;RCV=RCV000009466;ALLELE_ID=23950;SYMBOL=HSD11B1;HGVS_C=NM_181755.2:c.331+53dupA;MOLECULAR_CONSEQUENCE=NM_181755.2:c.331+53dupA:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_2|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=12858176..15827106..16091483..16817821..17062770;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103|MedGen:C3553382|OMIM:614662|Orphanet:168588 1 209706914 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8911;RCV=RCV000009466;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_2|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=12858176..15827106..16091483..16817821..17062770;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103|MedGen:C3553382|OMIM:614662|Orphanet:168588 1 210919955 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=203434;RCV=RCV000185594;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Zimmermann-Laband_syndrome_1|ZIMMERMANN-LABAND_SYNDROME_1;ALL_PMIDS=18541964..25915598;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Gene:353173|Genetic_Alliance:Laband+syndrome/4062|MedGen:CN032818|OMIM:135500|Orphanet:3473 1 210920047 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=203434;RCV=RCV000185594;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Zimmermann-Laband_syndrome_1|ZIMMERMANN-LABAND_SYNDROME_1;ALL_PMIDS=18541964..25915598;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Gene:353173|Genetic_Alliance:Laband+syndrome/4062|MedGen:CN032818|OMIM:135500|Orphanet:3473 -1 215680343 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202177;RCV=RCV000184023;ALLELE_ID=198603;SYMBOL=USH2A;HGVS_C=NM_206933.2:c.12100G>A;HGVS_P=NP_996816.2:p.Glu4034Lys;MOLECULAR_CONSEQUENCE=NM_206933.2:c.12100G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Usher_syndrome..type_2A|Usher_syndrome..type_2A;ALL_PMIDS=18484607..19881469..20301515..21697857;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1341|Genetic_Alliance:Usher+syndrome%2C+type+2A/7323|MedGen:C1848634|OMIM:276901|OMIM:608400.0001|OMIM:608400.0002|OMIM:608400.0003|OMIM:608400.0004|OMIM:608400.0005|OMIM:608400.0007|OMIM:608400.0008|OMIM:608400.0009|OMIM:608400.0010|OMIM:608400.0011|OMIM:608400.0013|OMIM:608400.0014|OMIM:608400.0015|OMIM:612971.0001|Office_of_Rare_Diseases:5440|Orphanet:231178|Orphanet:886 -1 216200070 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236060;RCV=RCV000225035;ALLELE_ID=237598;SYMBOL=USH2A;HGVS_C=NM_206933.2:c.3368A>G;HGVS_P=NP_996816.2:p.Tyr1123Cys;MOLECULAR_CONSEQUENCE=NM_206933.2:c.3368A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Non-syndromic_genetic_deafness;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:nonsyndromic-hearing-loss|MedGen:CN043648|Orphanet:87884|Orphanet:ORPHA87884 -1 216200071 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202177;RCV=RCV000184023;ALLELE_ID=198604;SYMBOL=USH2A;HGVS_C=NM_206933.2:c.3367T>C;HGVS_P=NP_996816.2:p.Tyr1123His;MOLECULAR_CONSEQUENCE=NM_206933.2:c.3367T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Usher_syndrome..type_2A|Usher_syndrome..type_2A;ALL_PMIDS=18484607..19881469..20301515..21697857;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1341|Genetic_Alliance:Usher+syndrome%2C+type+2A/7323|MedGen:C1848634|OMIM:276901|OMIM:608400.0001|OMIM:608400.0002|OMIM:608400.0003|OMIM:608400.0004|OMIM:608400.0005|OMIM:608400.0007|OMIM:608400.0008|OMIM:608400.0009|OMIM:608400.0010|OMIM:608400.0011|OMIM:608400.0013|OMIM:608400.0014|OMIM:608400.0015|OMIM:612971.0001|Office_of_Rare_Diseases:5440|Orphanet:231178|Orphanet:886 -1 216422095 . T TGTAC . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236060;RCV=RCV000225035;ALLELE_ID=237599;SYMBOL=USH2A;HGVS_C=NM_206933.2:c.240_241insGTAC;HGVS_P=NP_996816.2:p.Gln81Valfs;MOLECULAR_CONSEQUENCE=NM_206933.2:c.240_241insGTAC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Non-syndromic_genetic_deafness;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:nonsyndromic-hearing-loss|MedGen:CN043648|Orphanet:87884|Orphanet:ORPHA87884 1 226982996 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217876;RCV=RCV000201953;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Coenzyme_Q10_deficiency..primary..4;ALL_PMIDS=18319072..20580948;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342|MedGen:C2677589|OMIM:612016|Orphanet:139485 1 226985332 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217876;RCV=RCV000201953;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Coenzyme_Q10_deficiency..primary..4;ALL_PMIDS=18319072..20580948;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342|MedGen:C2677589|OMIM:612016|Orphanet:139485 1 229432787 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=18293;RCV=RCV000019955;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nemaline_myopathy_3|NEMALINE_MYOPATHY_3;ALL_PMIDS=19553116..20301465..22510848;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1288|Genetic_Alliance:Nemaline+myopathy+3/5125|Genetic_Testing_Registry_(GTR):GTR000502403|Genetic_Testing_Registry_(GTR):GTR000502456|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000519025|Genetic_Testing_Registry_(GTR):GTR000522325|Genetic_Testing_Registry_(GTR):GTR000552030|MedGen:C1834336|OMIM:161800|Office_of_Rare_Diseases:10111 1 229432788 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=18293;RCV=RCV000019955;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nemaline_myopathy_3|NEMALINE_MYOPATHY_3;ALL_PMIDS=19553116..20301465..22510848;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1288|Genetic_Alliance:Nemaline+myopathy+3/5125|Genetic_Testing_Registry_(GTR):GTR000502403|Genetic_Testing_Registry_(GTR):GTR000502456|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000519025|Genetic_Testing_Registry_(GTR):GTR000522325|Genetic_Testing_Registry_(GTR):GTR000552030|MedGen:C1834336|OMIM:161800|Office_of_Rare_Diseases:10111 -1 235458649 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216893;RCV=RCV000195857;ALLELE_ID=213521;SYMBOL=B3GALNT2;HGVS_C=NM_152490.4:c.979G>A;HGVS_P=NP_689703.1:p.Asp327Asn;MOLECULAR_CONSEQUENCE=NM_152490.4:c.979G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)..type_a..11|Congenital_muscular_dystrophy-dystroglycanopathy_with_brain_and_eye_anomalies..type_A11;ALL_PMIDS=25326637;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3554638|OMIM:615181|Orphanet:588|Orphanet:899 -2 26462182 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236047;RCV=RCV000225066;ALLELE_ID=57420;SYMBOL=OTOF;HGVS_C=NM_194248.2:c.5193-1G>A;MOLECULAR_CONSEQUENCE=NM_194248.2:c.5193-1G>A:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_9;ALL_PMIDS=18381613..20301429..20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1251|Genetic_Alliance:Deafness%2C+autosomal+recessive+9/8190|MedGen:C1832828|OMIM:601071|OMIM:603681.0011|OMIM:603681.0013|Orphanet:90636 -2 26463969 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216980;RCV=RCV000195955;ALLELE_ID=57417;SYMBOL=OTOF;HGVS_C=NM_194248.2:c.5098G>C;HGVS_P=NP_919224.1:p.Glu1700Gln;MOLECULAR_CONSEQUENCE=NM_194248.2:c.5098G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Deafness..autosomal_recessive_9|Deafness..autosomal_recessive_9;ALL_PMIDS=20301429..20301607..25326637;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1251|Genetic_Alliance:Deafness%2C+autosomal+recessive+9/8190|MedGen:C1832828|OMIM:601071|OMIM:603681.0011|OMIM:603681.0013|Orphanet:90636 -2 26467364 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236047;RCV=RCV000225066;ALLELE_ID=76710;SYMBOL=OTOF;HGVS_C=NM_194248.2:c.4227+1G>T;MOLECULAR_CONSEQUENCE=NM_194248.2:c.4227+1G>T:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_9;ALL_PMIDS=18381613..20301429..20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1251|Genetic_Alliance:Deafness%2C+autosomal+recessive+9/8190|MedGen:C1832828|OMIM:601071|OMIM:603681.0011|OMIM:603681.0013|Orphanet:90636 -2 26470685 . C CCTT . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216980;RCV=RCV000195955;ALLELE_ID=213537;SYMBOL=OTOF;HGVS_C=NM_194248.2:c.3928_3930dupAAG;HGVS_P=NP_919224.1:p.Lys1310_Gly1311insLys;MOLECULAR_CONSEQUENCE=NM_194248.2:c.3928_3930dupAAG:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Deafness..autosomal_recessive_9|Deafness..autosomal_recessive_9;ALL_PMIDS=20301429..20301607..25326637;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1251|Genetic_Alliance:Deafness%2C+autosomal+recessive+9/8190|MedGen:C1832828|OMIM:601071|OMIM:603681.0011|OMIM:603681.0013|Orphanet:90636 2 31529311 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375279;RCV=RCV000416333;ALLELE_ID=362050;SYMBOL=SRD5A2;HGVS_C=NM_000348.3:c.694C>G;HGVS_P=NP_000339.2:p.His232Asp;MOLECULAR_CONSEQUENCE=NM_000348.3:c.694C>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency;ALL_PMIDS=25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;DISEASE_MECHANISM=loss_of_function;ORIGIN=inherited;XREFS=Genetic_Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608|Genetic_Testing_Registry_(GTR):GTR000500408|Genetic_Testing_Registry_(GTR):GTR000508993|Genetic_Testing_Registry_(GTR):GTR000528277|MedGen:C0268297|OMIM:264600|Office_of_Rare_Diseases:5680|Orphanet:753|SNOMED_CT:57514000 2 31529325 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375261|375279;RCV=RCV000416356|RCV000416333;ALLELE_ID=18390;SYMBOL=SRD5A2;HGVS_C=NM_000348.3:c.680G>A;HGVS_P=NP_000339.2:p.Arg227Gln;MOLECULAR_CONSEQUENCE=NM_000348.3:c.680G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency;ALL_PMIDS=25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;DISEASE_MECHANISM=loss_of_function;ORIGIN=inherited;XREFS=Genetic_Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608|Genetic_Testing_Registry_(GTR):GTR000500408|Genetic_Testing_Registry_(GTR):GTR000508993|Genetic_Testing_Registry_(GTR):GTR000528277|MedGen:C0268297|OMIM:264600|Office_of_Rare_Diseases:5680|Orphanet:753|SNOMED_CT:57514000 2 31529466 . A C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375261;RCV=RCV000416356;ALLELE_ID=361962;SYMBOL=SRD5A2;HGVS_C=NM_000348.3:c.548-9T>G;MOLECULAR_CONSEQUENCE=NM_000348.3:c.548-9T>G:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency;ALL_PMIDS=25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;DISEASE_MECHANISM=loss_of_function;ORIGIN=inherited;XREFS=Genetic_Alliance:3-Oxo-5+alpha-steroid+delta+4-dehydrogenase+deficiency/7608|Genetic_Testing_Registry_(GTR):GTR000500408|Genetic_Testing_Registry_(GTR):GTR000508993|Genetic_Testing_Registry_(GTR):GTR000528277|MedGen:C0268297|OMIM:264600|Office_of_Rare_Diseases:5680|Orphanet:753|SNOMED_CT:57514000 2 47046329 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190388;RCV=RCV000170526;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Multiple_gastrointestinal_atresias|GASTROINTESTINAL_DEFECTS_AND_IMMUNODEFICIENCY_SYNDROME;ALL_PMIDS=23830146;AGE_OF_ONSET=Neonatal;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|SNOMED_CT:95472001 2 47050043 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190388;RCV=RCV000170526;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Multiple_gastrointestinal_atresias|GASTROINTESTINAL_DEFECTS_AND_IMMUNODEFICIENCY_SYNDROME;ALL_PMIDS=23830146;AGE_OF_ONSET=Neonatal;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|SNOMED_CT:95472001 -2 71568083 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216923|224664;RCV=RCV000200599|RCV000229450;ALLELE_ID=100191;SYMBOL=DYSF;HGVS_C=NM_001130987.1:c.2697+1G>A;MOLECULAR_CONSEQUENCE=NM_003494.3:c.2643+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA|Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2B;ALL_PMIDS=20301480..20301582..25326637..27854218|20301480..20301582..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1303|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237|Genetic_Testing_Registry_(GTR):GTR000502388|Genetic_Testing_Registry_(GTR):GTR000502442|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000507919|Genetic_Testing_Registry_(GTR):GTR000508632|MedGen:C1850889|OMIM:253601|Office_of_Rare_Diseases:8574|Orphanet:268 -2 71570680 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224664;RCV=RCV000229450;ALLELE_ID=226470;SYMBOL=DYSF;HGVS_C=NM_001130987.1:c.3167G>A;HGVS_P=NP_001124459.1:p.Arg1056Gln;MOLECULAR_CONSEQUENCE=NM_003494.3:c.3113G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2B;ALL_PMIDS=20301480..20301582..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1303|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237|Genetic_Testing_Registry_(GTR):GTR000502388|Genetic_Testing_Registry_(GTR):GTR000502442|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000507919|Genetic_Testing_Registry_(GTR):GTR000508632|MedGen:C1850889|OMIM:253601|Office_of_Rare_Diseases:8574|Orphanet:268 -2 71590280 . CTT C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216922;RCV=RCV000198403;ALLELE_ID=213540;SYMBOL=DYSF;HGVS_C=NM_001130987.1:c.3570_3571delTT;HGVS_P=NP_001124459.1:p.Ser1191Terfs;MOLECULAR_CONSEQUENCE=NM_003494.3:c.3516_3517delTT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Miyoshi_muscular_dystrophy_1|Limb-girdle_muscular_dystrophy..type_2B|Myopathy..distal..with_anterior_tibial_onset|Miyoshi_muscular_dystrophy_1|Limb-girdle_muscular_dystrophy..type_2B|Myopathy..distal..with_anterior_tibial_onset;ALL_PMIDS=20301480..20301582..25313375..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent|Adult;PREVALENCE=1-9_/_1_000_000|<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1303|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237|Genetic_Alliance:Miyoshi+myopathy/4842|Genetic_Alliance:Myopathy%2C+distal%2C+with+anterior+tibial+onset/8954|Genetic_Testing_Registry_(GTR):GTR000502388|Genetic_Testing_Registry_(GTR):GTR000502442|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000507919|Genetic_Testing_Registry_(GTR):GTR000508632|Genetic_Testing_Registry_(GTR):GTR000518949|MedGen:C1847532|MedGen:C1850808|MedGen:C1850889|OMIM:253601|OMIM:254130|OMIM:606768|Office_of_Rare_Diseases:8574|Orphanet:178400|Orphanet:268|Orphanet:45448 -2 71656229 . A C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216923;RCV=RCV000200599;ALLELE_ID=100227;SYMBOL=DYSF;HGVS_C=NM_001130987.1:c.4694A>C;HGVS_P=NP_001124459.1:p.Lys1565Thr;MOLECULAR_CONSEQUENCE=NM_003494.3:c.4577A>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2B|Limb-girdle_muscular_dystrophy..type_2B;ALL_PMIDS=20301480..20301582..25326637..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1303|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237|Genetic_Testing_Registry_(GTR):GTR000502388|Genetic_Testing_Registry_(GTR):GTR000502442|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000507919|Genetic_Testing_Registry_(GTR):GTR000508632|MedGen:C1850889|OMIM:253601|Office_of_Rare_Diseases:8574|Orphanet:268 -2 71665182 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216922;RCV=RCV000198403;ALLELE_ID=213541;SYMBOL=DYSF;HGVS_C=NM_001130987.1:c.5195G>A;HGVS_P=NP_001124459.1:p.Arg1732Gln;MOLECULAR_CONSEQUENCE=NM_003494.3:c.5078G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Miyoshi_muscular_dystrophy_1|Limb-girdle_muscular_dystrophy..type_2B|Myopathy..distal..with_anterior_tibial_onset|Miyoshi_muscular_dystrophy_1|Limb-girdle_muscular_dystrophy..type_2B|Myopathy..distal..with_anterior_tibial_onset;ALL_PMIDS=20301480..20301582..25313375..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent|Adult;PREVALENCE=1-9_/_1_000_000|<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1303|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2B/4237|Genetic_Alliance:Miyoshi+myopathy/4842|Genetic_Alliance:Myopathy%2C+distal%2C+with+anterior+tibial+onset/8954|Genetic_Testing_Registry_(GTR):GTR000502388|Genetic_Testing_Registry_(GTR):GTR000502442|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000507919|Genetic_Testing_Registry_(GTR):GTR000508632|Genetic_Testing_Registry_(GTR):GTR000518949|MedGen:C1847532|MedGen:C1850808|MedGen:C1850889|OMIM:253601|OMIM:254130|OMIM:606768|Office_of_Rare_Diseases:8574|Orphanet:178400|Orphanet:268|Orphanet:45448 2 86217101 . T C . . MEASURESET_TYPE=Distinct_chromosomes;MEASURESET_ID=157528;RCV=RCV000144873;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 -2 99162763 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216957;RCV=RCV000197242;ALLELE_ID=213542;SYMBOL=LIPT1;HGVS_C=NM_145199.2:c.806G>A;HGVS_P=NP_660200.1:p.Trp269Ter;MOLECULAR_CONSEQUENCE=NM_015929.3:c.806G>A:nonsense|NR_037935.1:n.1291G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Lipoyltransferase_1_deficiency|LIPOYLTRANSFERASE_1_DEFICIENCY;ALL_PMIDS=25326637;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:CN230008|OMIM:616299|Orphanet:401862 -2 99162937 . T G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216957;RCV=RCV000197242;ALLELE_ID=213543;SYMBOL=LIPT1;HGVS_C=NM_145199.2:c.980T>G;HGVS_P=NP_660200.1:p.Leu327Ter;MOLECULAR_CONSEQUENCE=NM_015929.3:c.980T>G:nonsense|NR_037935.1:n.1465T>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Lipoyltransferase_1_deficiency|LIPOYLTRANSFERASE_1_DEFICIENCY;ALL_PMIDS=25326637;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:CN230008|OMIM:616299|Orphanet:401862 2 127654493 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=222901;RCV=RCV000208555;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Muscular_dystrophy..limb-girdle..type_2W|MUSCULAR_DYSTROPHY..LIMB-GIRDLE..TYPE_2W_(1_family);ALL_PMIDS=25589244;ORIGIN=germline;XREFS=MedGen:CN235330|OMIM:616827 2 127654507 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=222901;RCV=RCV000208555;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Muscular_dystrophy..limb-girdle..type_2W|MUSCULAR_DYSTROPHY..LIMB-GIRDLE..TYPE_2W_(1_family);ALL_PMIDS=25589244;ORIGIN=germline;XREFS=MedGen:CN235330|OMIM:616827 2 130342034 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=242871;RCV=RCV000239375;ALLELE_ID=216019;SYMBOL=CCDC115;HGVS_C=NM_001321118.1:c.97-90T>C;HGVS_P=NP_115733.2:p.Leu31Ser;MOLECULAR_CONSEQUENCE=NM_001321118.1:c.97-90T>C:intron_variant|NM_032357.3:c.92T>C:missense_variant|NR_135548.1:n.350T>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Gastroenterology_and_Hepatology..Radboud_University_Medical_Center;ALL_TRAITS=Congenital_disorders_of_glycosylation_type_II|Congenital_Disorders_of_Glycosylation_type_II;ALL_PMIDS=26833332;ORIGIN=germline;XREFS=MedGen:CN234782 -2 151646139 . GTTGA G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224668;RCV=RCV000227541;ALLELE_ID=226443;SYMBOL=NEB;HGVS_C=NM_001271208.1:c.7523_7526delTCAA;HGVS_P=NP_001258137.1:p.Ile2508Thrfs;MOLECULAR_CONSEQUENCE=NM_001271208.1:c.7523_7526delTCAA:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Nemaline_myopathy_2;ALL_PMIDS=20301465..22510848..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=unknown;XREFS=GeneReviews:NBK1288|Genetic_Alliance:Nemaline+myopathy+2/5124|Genetic_Testing_Registry_(GTR):GTR000502404|Genetic_Testing_Registry_(GTR):GTR000502457|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000508632|Genetic_Testing_Registry_(GTR):GTR000522325|Genetic_Testing_Registry_(GTR):GTR000528456|Genetic_Testing_Registry_(GTR):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552420|MedGen:C1850569|OMIM:256030|Office_of_Rare_Diseases:8335 -2 151650316 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224668;RCV=RCV000227541;ALLELE_ID=226444;SYMBOL=NEB;HGVS_C=NM_001271208.1:c.7291G>A;HGVS_P=NP_001258137.1:p.Glu2431Lys;MOLECULAR_CONSEQUENCE=NM_001271208.1:c.7291G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Nemaline_myopathy_2;ALL_PMIDS=20301465..22510848..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=unknown;XREFS=GeneReviews:NBK1288|Genetic_Alliance:Nemaline+myopathy+2/5124|Genetic_Testing_Registry_(GTR):GTR000502404|Genetic_Testing_Registry_(GTR):GTR000502457|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000508632|Genetic_Testing_Registry_(GTR):GTR000522325|Genetic_Testing_Registry_(GTR):GTR000528456|Genetic_Testing_Registry_(GTR):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552420|MedGen:C1850569|OMIM:256030|Office_of_Rare_Diseases:8335 2 166272746 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=30359;RCV=RCV000023304;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=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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 2 166277030 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=30359;RCV=RCV000023304;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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 -2 178527120 . CA C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224671;RCV=RCV000228738;ALLELE_ID=226445;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.107867delT;HGVS_P=NP_001254479.2:p.Leu35956Argfs;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.107867delT:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..24581957..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Congenital+Muscular+Dystrophy/1856|Genetic_Testing_Registry_(GTR):GTR000500215|Genetic_Testing_Registry_(GTR):GTR000501939|Genetic_Testing_Registry_(GTR):GTR000501968|Genetic_Testing_Registry_(GTR):GTR000502035|Genetic_Testing_Registry_(GTR):GTR000502038|Genetic_Testing_Registry_(GTR):GTR000502078|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000505516|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000520476|Genetic_Testing_Registry_(GTR):GTR000525319|Genetic_Testing_Registry_(GTR):GTR000552180|MedGen:C0699743|SNOMED_CT:240059009 -2 178528797 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217022;RCV=RCV000197581;ALLELE_ID=213528;SYMBOL=TTN-AS1;HGVS_C=NM_133378.4:c.99250C>T;HGVS_P=NP_001254479.2:p.Arg35652Ter;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.106954C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2J|Myopathy..early-onset..with_fatal_cardiomyopathy|Myopathy..early-onset..with_fatal_cardiomyopathy|Limb-girdle_muscular_dystrophy..type_2J;ALL_PMIDS=22238790..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent|Childhood;PREVALENCE=<1_/_1_000_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK83297|Genetic_Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2j/8928|Genetic_Alliance:Myopathy%2C+early-onset%2C+with+fatal+cardiomyopathy/8955|Genetic_Testing_Registry_(GTR):GTR000330311|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000509386|Genetic_Testing_Registry_(GTR):GTR000509454|Genetic_Testing_Registry_(GTR):GTR000519013|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetics_Home_Reference:limb-girdle-muscular-dystrophy|MedGen:C1837342|MedGen:C2673677|OMIM:608807|OMIM:611705|Orphanet:140922|Orphanet:289377 -2 178529958 . A T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224671;RCV=RCV000228738;ALLELE_ID=226446;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.106531+2T>A;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.106531+2T>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..24581957..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Congenital+Muscular+Dystrophy/1856|Genetic_Testing_Registry_(GTR):GTR000500215|Genetic_Testing_Registry_(GTR):GTR000501939|Genetic_Testing_Registry_(GTR):GTR000501968|Genetic_Testing_Registry_(GTR):GTR000502035|Genetic_Testing_Registry_(GTR):GTR000502038|Genetic_Testing_Registry_(GTR):GTR000502078|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000505516|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000520476|Genetic_Testing_Registry_(GTR):GTR000525319|Genetic_Testing_Registry_(GTR):GTR000552180|MedGen:C0699743|SNOMED_CT:240059009 -2 178530461 . T G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224698;RCV=RCV000232907;ALLELE_ID=226447;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.106154A>C;HGVS_P=NP_001254479.2:p.Lys35385Thr;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.106154A>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -2 178530595 . AC A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=178839;RCV=RCV000155611;ALLELE_ID=172806;SYMBOL=TTN-AS1;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Autosomal_recessive_centronuclear_myopathy;ALL_PMIDS=22617344..23975875..24033266;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Genetic_Alliance:Autosomal+recessive+centronuclear+myopathy/7787|Genetic_Testing_Registry_(GTR):GTR000324320|Genetic_Testing_Registry_(GTR):GTR000500129|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000509767|Genetics_Home_Reference:centronuclear-myopathy|MedGen:C0410204|OMIM:255200|Orphanet:169186|Orphanet:ORPHA169186|SNOMED_CT:240081004 -2 178530861 . G GT . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217022;RCV=RCV000197581;ALLELE_ID=213529;SYMBOL=TTN-AS1;HGVS_C=NM_133378.4:c.98049dupA;HGVS_P=NP_001254479.2:p.Arg35252Thrfs;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.105753dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2J|Myopathy..early-onset..with_fatal_cardiomyopathy|Myopathy..early-onset..with_fatal_cardiomyopathy|Limb-girdle_muscular_dystrophy..type_2J;ALL_PMIDS=22238790..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent|Childhood;PREVALENCE=<1_/_1_000_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK83297|Genetic_Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2j/8928|Genetic_Alliance:Myopathy%2C+early-onset%2C+with+fatal+cardiomyopathy/8955|Genetic_Testing_Registry_(GTR):GTR000330311|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000509386|Genetic_Testing_Registry_(GTR):GTR000509454|Genetic_Testing_Registry_(GTR):GTR000519013|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetics_Home_Reference:limb-girdle-muscular-dystrophy|MedGen:C1837342|MedGen:C2673677|OMIM:608807|OMIM:611705|Orphanet:140922|Orphanet:289377 -2 178533656 . ATTG A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224676;RCV=RCV000230182;ALLELE_ID=226448;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.102956_102958delCAA;HGVS_P=NP_001254479.2:p.Thr34319del;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.102956_102958delCAA:inframe_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Congenital_myopathy;ALL_PMIDS=27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=unknown;XREFS=Genetic_Alliance:Myopathy+congenital/5050|Genetic_Testing_Registry_(GTR):GTR000521314|Genetic_Testing_Registry_(GTR):GTR000552206|MedGen:C0270960|OMIM:255300|Office_of_Rare_Diseases:5898 -2 178550076 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224708;RCV=RCV000229478;ALLELE_ID=226450;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.91762G>A;HGVS_P=NP_001254479.2:p.Asp30588Asn;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.91762G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|Muscle_weakness|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -2 178562027 . T A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224700;RCV=RCV000234757;ALLELE_ID=226452;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.84105A>T;HGVS_P=NP_001254479.2:p.Leu28035Phe;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.84105A>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|Limb-girdle_muscular_dystrophy|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -2 178562817 . T A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224708;RCV=RCV000229478;ALLELE_ID=193229;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.83315A>T;HGVS_P=NP_001254479.2:p.Asn27772Ile;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.83315A>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance|not_provided;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|Muscle_weakness|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -2 178569735 . ATGTT A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=178839;RCV=RCV000155611;ALLELE_ID=172708;SYMBOL=TTN-AS1;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Autosomal_recessive_centronuclear_myopathy;ALL_PMIDS=22617344..23975875..24033266;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Genetic_Alliance:Autosomal+recessive+centronuclear+myopathy/7787|Genetic_Testing_Registry_(GTR):GTR000324320|Genetic_Testing_Registry_(GTR):GTR000500129|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000509767|Genetics_Home_Reference:centronuclear-myopathy|MedGen:C0410204|OMIM:255200|Orphanet:169186|Orphanet:ORPHA169186|SNOMED_CT:240081004 -2 178571082 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224706;RCV=RCV000232223;ALLELE_ID=226453;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.75050T>C;HGVS_P=NP_001254479.2:p.Ile25017Thr;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.75050T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|Distal_myopathy|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -2 178579850 . T G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224670;RCV=RCV000231033;ALLELE_ID=226454;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.67349-2A>C;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.67349-2A>C:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..24581957..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Congenital+Muscular+Dystrophy/1856|Genetic_Testing_Registry_(GTR):GTR000500215|Genetic_Testing_Registry_(GTR):GTR000501939|Genetic_Testing_Registry_(GTR):GTR000501968|Genetic_Testing_Registry_(GTR):GTR000502035|Genetic_Testing_Registry_(GTR):GTR000502038|Genetic_Testing_Registry_(GTR):GTR000502078|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000505516|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000520476|Genetic_Testing_Registry_(GTR):GTR000525319|Genetic_Testing_Registry_(GTR):GTR000552180|MedGen:C0699743|SNOMED_CT:240059009 -2 178589003 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224676;RCV=RCV000230182;ALLELE_ID=226455;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.62722C>T;HGVS_P=NP_001254479.2:p.Arg20908Ter;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.62722C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Congenital_myopathy;ALL_PMIDS=27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=unknown;XREFS=Genetic_Alliance:Myopathy+congenital/5050|Genetic_Testing_Registry_(GTR):GTR000521314|Genetic_Testing_Registry_(GTR):GTR000552206|MedGen:C0270960|OMIM:255300|Office_of_Rare_Diseases:5898 -2 178591814 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217021;RCV=RCV000196059;ALLELE_ID=56322;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.60005A>G;HGVS_P=NP_001254479.2:p.Asp20002Gly;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.60005A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9|Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9;ALL_PMIDS=20301486..21267010..25326637;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1309|Genetic_Alliance:Dilated+cardiomyopathy+1G/8251|Genetic_Alliance:Familial+hypertrophic+cardiomyopathy+9/8398|Genetic_Testing_Registry_(GTR):GTR000500751|Genetic_Testing_Registry_(GTR):GTR000501685|Genetic_Testing_Registry_(GTR):GTR000501687|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000508845|Genetic_Testing_Registry_(GTR):GTR000509386|Genetic_Testing_Registry_(GTR):GTR000509454|Genetic_Testing_Registry_(GTR):GTR000509948|Genetic_Testing_Registry_(GTR):GTR000509953|Genetic_Testing_Registry_(GTR):GTR000510811|Genetic_Testing_Registry_(GTR):GTR000511419|Genetic_Testing_Registry_(GTR):GTR000512405|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528521|MedGen:C1858763|MedGen:C1861065|OMIM:604145|OMIM:613765|Orphanet:154 -2 178601260 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224675;RCV=RCV000228520;ALLELE_ID=226456;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.55732+5G>C;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.55732+5G>C:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2J;ALL_PMIDS=27854218;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=Genetic_Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2j/8928|Genetics_Home_Reference:limb-girdle-muscular-dystrophy|MedGen:C1837342|OMIM:608807|Orphanet:140922 +2 178530595 . AC A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=178839;RCV=RCV000155611;ALLELE_ID=172806;SYMBOL=TTN-AS1;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Autosomal_recessive_centronuclear_myopathy;ALL_PMIDS=22617344..23975875..24033266;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Genetic_Alliance:Autosomal+recessive+centronuclear+myopathy/7787|Genetic_Testing_Registry_(GTR):GTR000324320|Genetic_Testing_Registry_(GTR):GTR000500129|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000509767|Genetic_Testing_Registry_(GTR):GTR000553005|Genetics_Home_Reference:centronuclear-myopathy|MedGen:C0410204|OMIM:255200|Orphanet:169186|Orphanet:ORPHA169186|SNOMED_CT:240081004 +2 178569735 . ATGTT A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=178839;RCV=RCV000155611;ALLELE_ID=172708;SYMBOL=TTN-AS1;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Autosomal_recessive_centronuclear_myopathy;ALL_PMIDS=22617344..23975875..24033266;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Genetic_Alliance:Autosomal+recessive+centronuclear+myopathy/7787|Genetic_Testing_Registry_(GTR):GTR000324320|Genetic_Testing_Registry_(GTR):GTR000500129|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000509767|Genetic_Testing_Registry_(GTR):GTR000553005|Genetics_Home_Reference:centronuclear-myopathy|MedGen:C0410204|OMIM:255200|Orphanet:169186|Orphanet:ORPHA169186|SNOMED_CT:240081004 2 178607565 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=179465;RCV=RCV000156254;ALLELE_ID=56237;SYMBOL=TTN-AS1;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 2 178607566 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=179465;RCV=RCV000156254;ALLELE_ID=173874;SYMBOL=TTN-AS1;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=Likely_benign|Uncertain_significance|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -2 178620030 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224706;RCV=RCV000232223;ALLELE_ID=56165;SYMBOL=TTN-AS1;HGVS_C=NM_001267550.2:c.46387G>A;HGVS_P=NP_001254479.2:p.Gly15463Arg;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.46387G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|Distal_myopathy|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -2 178620285 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217021;RCV=RCV000196059;ALLELE_ID=213530;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.46236C>A;HGVS_P=NP_001254479.2:p.Cys15412Ter;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.46236C>A:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9|Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9;ALL_PMIDS=20301486..21267010..25326637;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1309|Genetic_Alliance:Dilated+cardiomyopathy+1G/8251|Genetic_Alliance:Familial+hypertrophic+cardiomyopathy+9/8398|Genetic_Testing_Registry_(GTR):GTR000500751|Genetic_Testing_Registry_(GTR):GTR000501685|Genetic_Testing_Registry_(GTR):GTR000501687|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000508845|Genetic_Testing_Registry_(GTR):GTR000509386|Genetic_Testing_Registry_(GTR):GTR000509454|Genetic_Testing_Registry_(GTR):GTR000509948|Genetic_Testing_Registry_(GTR):GTR000509953|Genetic_Testing_Registry_(GTR):GTR000510811|Genetic_Testing_Registry_(GTR):GTR000511419|Genetic_Testing_Registry_(GTR):GTR000512405|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528521|MedGen:C1858763|MedGen:C1861065|OMIM:604145|OMIM:613765|Orphanet:154 -2 178621119 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224698;RCV=RCV000232907;ALLELE_ID=56156;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.45599C>G;HGVS_P=NP_001254479.2:p.Ala15200Gly;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.45599C>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -2 178634462 . GTTTC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224670;RCV=RCV000231033;ALLELE_ID=226460;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.42315_42318delGAAA;HGVS_P=NP_001254479.2:p.Lys14105Asnfs;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.42315_42318delGAAA:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..24581957..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Congenital+Muscular+Dystrophy/1856|Genetic_Testing_Registry_(GTR):GTR000500215|Genetic_Testing_Registry_(GTR):GTR000501939|Genetic_Testing_Registry_(GTR):GTR000501968|Genetic_Testing_Registry_(GTR):GTR000502035|Genetic_Testing_Registry_(GTR):GTR000502038|Genetic_Testing_Registry_(GTR):GTR000502078|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000505516|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000520476|Genetic_Testing_Registry_(GTR):GTR000525319|Genetic_Testing_Registry_(GTR):GTR000552180|MedGen:C0699743|SNOMED_CT:240059009 -2 178634722 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224669;RCV=RCV000226930;ALLELE_ID=226461;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.42151+1G>C;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.42151+1G>C:splice_donor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..24581957..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Congenital+Muscular+Dystrophy/1856|Genetic_Testing_Registry_(GTR):GTR000500215|Genetic_Testing_Registry_(GTR):GTR000501939|Genetic_Testing_Registry_(GTR):GTR000501968|Genetic_Testing_Registry_(GTR):GTR000502035|Genetic_Testing_Registry_(GTR):GTR000502038|Genetic_Testing_Registry_(GTR):GTR000502078|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000505516|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000520476|Genetic_Testing_Registry_(GTR):GTR000525319|Genetic_Testing_Registry_(GTR):GTR000552180|MedGen:C0699743|SNOMED_CT:240059009 -2 178651450 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224669;RCV=RCV000226930;ALLELE_ID=226462;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.39547+3A>G;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.39547+3A>G:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..24581957..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Congenital+Muscular+Dystrophy/1856|Genetic_Testing_Registry_(GTR):GTR000500215|Genetic_Testing_Registry_(GTR):GTR000501939|Genetic_Testing_Registry_(GTR):GTR000501968|Genetic_Testing_Registry_(GTR):GTR000502035|Genetic_Testing_Registry_(GTR):GTR000502038|Genetic_Testing_Registry_(GTR):GTR000502078|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000505516|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000520476|Genetic_Testing_Registry_(GTR):GTR000525319|Genetic_Testing_Registry_(GTR):GTR000552180|MedGen:C0699743|SNOMED_CT:240059009 -2 178684990 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224675;RCV=RCV000228520;ALLELE_ID=191309;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.32471-1G>A;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.32471-1G>A:splice_acceptor_variant|NM_003319.4:c.13283-42673G>A:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2J;ALL_PMIDS=27854218;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=Genetic_Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2j/8928|Genetics_Home_Reference:limb-girdle-muscular-dystrophy|MedGen:C1837342|OMIM:608807|Orphanet:140922 -2 178738236 . T G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224700;RCV=RCV000234757;ALLELE_ID=226465;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.14217A>C;HGVS_P=NP_001254479.2:p.Glu4739Asp;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.14217A>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|Limb-girdle_muscular_dystrophy|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -2 181558617 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216900;RCV=RCV000196604;ALLELE_ID=17403;SYMBOL=CERKL;HGVS_C=NM_001030311.2:c.847C>T;HGVS_P=NP_001025482.1:p.Arg283Ter;MOLECULAR_CONSEQUENCE=NM_001030311.2:c.847C>T:nonsense|NM_001030312.2:c.482-8909C>T:intron_variant|NR_027689.1:n.674C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Retinitis_pigmentosa_26|Retinitis_pigmentosa_26;ALL_PMIDS=20301590..25326637;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1417|Genetic_Alliance:Retinitis+Pigmentosa+26/6264|MedGen:C1842127|OMIM:608380|Orphanet:791 -2 181566061 . T A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216900;RCV=RCV000196604;ALLELE_ID=213531;SYMBOL=CERKL;HGVS_C=NM_201548.4:c.674A>T;HGVS_P=NP_963842.1:p.Asp225Val;MOLECULAR_CONSEQUENCE=NM_001030311.2:c.674A>T:missense_variant|NM_001030312.2:c.482-16353A>T:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Retinitis_pigmentosa_26|Retinitis_pigmentosa_26;ALL_PMIDS=20301590..25326637;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1417|Genetic_Alliance:Retinitis+Pigmentosa+26/6264|MedGen:C1842127|OMIM:608380|Orphanet:791 2 188997189 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=101229;RCV=RCV000087466;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Collagen_Diagnostic_Laboratory;ALL_TRAITS=Ehlers-Danlos_syndrome..type_4|Ehlers-Danlos_syndrome..type_4;ALL_PMIDS=20301667..23788249..24882528..25173340..25355838..25356965..27854360;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1494|Genetic_Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491|Genetic_Testing_Registry_(GTR):GTR000500400|Genetic_Testing_Registry_(GTR):GTR000500403|Genetic_Testing_Registry_(GTR):GTR000501094|Genetic_Testing_Registry_(GTR):GTR000510815|Genetic_Testing_Registry_(GTR):GTR000510818|Genetic_Testing_Registry_(GTR):GTR000519266|Genetic_Testing_Registry_(GTR):GTR000519381|Genetic_Testing_Registry_(GTR):GTR000521913|Genetic_Testing_Registry_(GTR):GTR000525815|Genetic_Testing_Registry_(GTR):GTR000525816|Genetic_Testing_Registry_(GTR):GTR000525817|Genetic_Testing_Registry_(GTR):GTR000525925|Genetic_Testing_Registry_(GTR):GTR000528496|Genetic_Testing_Registry_(GTR):GTR000552603|MedGen:C0268338|OMIM:130050|Orphanet:286|SNOMED_CT:17025000 2 189010205 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=101229;RCV=RCV000087466;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Collagen_Diagnostic_Laboratory;ALL_TRAITS=Ehlers-Danlos_syndrome..type_4|Ehlers-Danlos_syndrome..type_4;ALL_PMIDS=20301667..23788249..24882528..25173340..25355838..25356965..27854360;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1494|Genetic_Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491|Genetic_Testing_Registry_(GTR):GTR000500400|Genetic_Testing_Registry_(GTR):GTR000500403|Genetic_Testing_Registry_(GTR):GTR000501094|Genetic_Testing_Registry_(GTR):GTR000510815|Genetic_Testing_Registry_(GTR):GTR000510818|Genetic_Testing_Registry_(GTR):GTR000519266|Genetic_Testing_Registry_(GTR):GTR000519381|Genetic_Testing_Registry_(GTR):GTR000521913|Genetic_Testing_Registry_(GTR):GTR000525815|Genetic_Testing_Registry_(GTR):GTR000525816|Genetic_Testing_Registry_(GTR):GTR000525817|Genetic_Testing_Registry_(GTR):GTR000525925|Genetic_Testing_Registry_(GTR):GTR000528496|Genetic_Testing_Registry_(GTR):GTR000552603|MedGen:C0268338|OMIM:130050|Orphanet:286|SNOMED_CT:17025000 2 200571795 . CAG C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=375673;RCV=RCV000417144;ALLELE_ID=362513;SYMBOL=SGO2;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 @@ -196,9 +143,7 @@ 2 201723425 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=42138;RCV=RCV000034965;ALLELE_ID=205071;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.3529G>T;HGVS_P=NP_065970.2:p.Gly1177Ter;MOLECULAR_CONSEQUENCE=NM_020919.3:c.3529G>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis|ALS2-Related_Disorders;ALL_PMIDS=18394004..20301421;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 2 201746653 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217879;RCV=RCV000201952;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis;ALL_PMIDS=12919135..18394004..20301421;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 2 201746738 . T TCACTG . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=42138;RCV=RCV000034965;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis|ALS2-Related_Disorders;ALL_PMIDS=18394004..20301421;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -2 227059468 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=222054;RCV=RCV000207535;ALLELE_ID=223747;SYMBOL=COL4A4;HGVS_C=NM_000092.4:c.2320G>C;HGVS_P=NP_000083.3:p.Gly774Arg;MOLECULAR_CONSEQUENCE=NM_000092.4:c.2320G>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Genetic_Diagnostic_Laboratory..University_of_Szeged;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386..22166944;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919 -2 227253337 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=222050;RCV=RCV000207840;ALLELE_ID=223750;SYMBOL=COL4A3;HGVS_C=NM_000091.4:c.687G>A;HGVS_P=NP_000082.2:p.Arg229_eq_;MOLECULAR_CONSEQUENCE=NM_000091.4:c.687G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Genetic_Diagnostic_Laboratory..University_of_Szeged;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386..22166944;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919 -2 227295035 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=222050;RCV=RCV000207840;ALLELE_ID=223754;SYMBOL=COL4A3;HGVS_C=NM_000091.4:c.3490G>T;HGVS_P=NP_000082.2:p.Gly1164Cys;MOLECULAR_CONSEQUENCE=NM_000091.4:c.3490G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Genetic_Diagnostic_Laboratory..University_of_Szeged;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386..22166944;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919 +2 227273117 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=397582;RCV=RCV000449541;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386..22166944;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919 2 232484156 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235817;RCV=RCV000224367;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457 2 232484156 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235818;RCV=RCV000224716;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457 2 232484469 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235818;RCV=RCV000224716;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457 @@ -207,10 +152,6 @@ 2 232485937 . G GT . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235821;RCV=RCV000224209;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457 2 232486064 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235817;RCV=RCV000224367;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457 2 232486298 . CTGGCGTCCAGGT C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235821;RCV=RCV000224209;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457 -2 232526549 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156549;RCV=RCV000191950;ALLELE_ID=166332;SYMBOL=CHRND;HGVS_C=NM_000751.2:c.73G>T;HGVS_P=NP_000742.1:p.Glu25Ter;MOLECULAR_CONSEQUENCE=NM_000751.2:c.73G>T:nonsense|NM_001311195.1:c.-199G>T:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Department_of_Neurology..Children's_Hospital_of_Fudan_University;ALL_TRAITS=Congenital_myasthenic_syndrome_1B..fast-channel|ptosis|external_ophthalmoplegia|Myasthenic_syndrome..congenital..fast-channel;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Myasthenic+syndrome%2C+congenital%2C+fast-channel/8933|MedGen:C1837122|OMIM:608930|Orphanet:590 -2 232534290 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156549;RCV=RCV000191950;ALLELE_ID=166333;SYMBOL=CHRND;HGVS_C=NM_000751.2:c.1319A>G;HGVS_P=NP_000742.1:p.Asp440Gly;MOLECULAR_CONSEQUENCE=NM_000751.2:c.1319A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Department_of_Neurology..Children's_Hospital_of_Fudan_University;ALL_TRAITS=Congenital_myasthenic_syndrome_1B..fast-channel|ptosis|external_ophthalmoplegia|Myasthenic_syndrome..congenital..fast-channel;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Myasthenic+syndrome%2C+congenital%2C+fast-channel/8933|MedGen:C1837122|OMIM:608930|Orphanet:590 -2 237350166 . CG C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202179;RCV=RCV000184025;ALLELE_ID=198611;SYMBOL=COL6A3;HGVS_C=NM_004369.3:c.6859delC;HGVS_P=NP_004360.2:p.Arg2287Glyfs;MOLECULAR_CONSEQUENCE=NM_004369.3:c.6859delC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Bethlem_myopathy_1;ALL_PMIDS=15689448..20301468..20301676..21078917..21943391;INHERITANCE_MODES=Autosomal_dominant_inheritance|Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1503|Genetic_Testing_Registry_(GTR):GTR000501723|Genetic_Testing_Registry_(GTR):GTR000501724|Genetic_Testing_Registry_(GTR):GTR000501725|Genetic_Testing_Registry_(GTR):GTR000502431|Genetic_Testing_Registry_(GTR):GTR000502432|Genetic_Testing_Registry_(GTR):GTR000502434|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506313|Genetic_Testing_Registry_(GTR):GTR000506314|Genetic_Testing_Registry_(GTR):GTR000508852|Genetic_Testing_Registry_(GTR):GTR000512784|Genetic_Testing_Registry_(GTR):GTR000519374|Genetic_Testing_Registry_(GTR):GTR000519375|Genetic_Testing_Registry_(GTR):GTR000519376|Genetic_Testing_Registry_(GTR):GTR000519377|Genetic_Testing_Registry_(GTR):GTR000520474|Genetic_Testing_Registry_(GTR):GTR000525319|MedGen:CN029274|OMIM:158810|Orphanet:610 -2 237361836 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202179;RCV=RCV000184025;ALLELE_ID=198612;SYMBOL=COL6A3;HGVS_C=NM_004369.3:c.6064-5G>A;MOLECULAR_CONSEQUENCE=NM_004369.3:c.6064-5G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Bethlem_myopathy_1;ALL_PMIDS=15689448..20301468..20301676..21078917..21943391;INHERITANCE_MODES=Autosomal_dominant_inheritance|Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1503|Genetic_Testing_Registry_(GTR):GTR000501723|Genetic_Testing_Registry_(GTR):GTR000501724|Genetic_Testing_Registry_(GTR):GTR000501725|Genetic_Testing_Registry_(GTR):GTR000502431|Genetic_Testing_Registry_(GTR):GTR000502432|Genetic_Testing_Registry_(GTR):GTR000502434|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506313|Genetic_Testing_Registry_(GTR):GTR000506314|Genetic_Testing_Registry_(GTR):GTR000508852|Genetic_Testing_Registry_(GTR):GTR000512784|Genetic_Testing_Registry_(GTR):GTR000519374|Genetic_Testing_Registry_(GTR):GTR000519375|Genetic_Testing_Registry_(GTR):GTR000519376|Genetic_Testing_Registry_(GTR):GTR000519377|Genetic_Testing_Registry_(GTR):GTR000520474|Genetic_Testing_Registry_(GTR):GTR000525319|MedGen:CN029274|OMIM:158810|Orphanet:610 2 240869302 . T TTCCTGGTTG . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=204181;RCV=RCV000186388;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=17460142..20301460..22547750;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1_per_million|<1_/_1_000_000;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|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001 2 240869312 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=204181;RCV=RCV000186388;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=17460142..20301460..22547750;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1_per_million|<1_/_1_000_000;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|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001 2 240875986 . G GA . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=204202;RCV=RCV000186409;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=20301460..22547750;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1_per_million|<1_/_1_000_000;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|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001 @@ -237,9 +178,7 @@ 3 15645217 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=38565;RCV=RCV000021903;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10801053..15776412..16435182..20301497..22378278..22475884;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|Genetic_Testing_Registry_(GTR):GTR000332508|Genetic_Testing_Registry_(GTR):GTR000502884|Genetic_Testing_Registry_(GTR):GTR000503007|Genetic_Testing_Registry_(GTR):GTR000503010|Genetic_Testing_Registry_(GTR):GTR000503025|Genetic_Testing_Registry_(GTR):GTR000503671|Genetic_Testing_Registry_(GTR):GTR000506389|Genetic_Testing_Registry_(GTR):GTR000512248|Genetic_Testing_Registry_(GTR):GTR000521225|Genetic_Testing_Registry_(GTR):GTR000521376|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000529377|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004 3 33018510 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208495;RCV=RCV000190508;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Mucopolysaccharidosis..MPS-IV-B;ALL_PMIDS=24156116;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Morquio+syndrome+B/4877|MedGen:C0086652|OMIM:253010|Orphanet:582|SNOMED_CT:238044004 3 33024297 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208495;RCV=RCV000190508;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Mucopolysaccharidosis..MPS-IV-B;ALL_PMIDS=24156116;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Morquio+syndrome+B/4877|MedGen:C0086652|OMIM:253010|Orphanet:582|SNOMED_CT:238044004 -3 33068849 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216935;RCV=RCV000196532;ALLELE_ID=15967;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.367G>A;HGVS_P=NP_000395.2:p.Gly123Arg;MOLECULAR_CONSEQUENCE=NM_000404.3:c.367G>A:missense_variant|NM_001135602.1:c.246-3292G>A:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Infantile_GM1_gangliosidosis|Infantile_GM1_gangliosidosis;ALL_PMIDS=25326637;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Infantile+GM1+gangliosidosis/8659|MedGen:C0268271|OMIM:230500|OMIM:611458.0001|OMIM:611458.0002|OMIM:611458.0005|OMIM:611458.0006|OMIM:611458.0007|OMIM:611458.0010|OMIM:611458.0012|OMIM:611458.0014|OMIM:611458.0017|OMIM:611458.0023|Orphanet:354|SNOMED_CT:238026007 3 33068940 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=242904;RCV=RCV000234894;ALLELE_ID=244010;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.276G>A;HGVS_P=NP_000395.2:p.Trp92Ter;MOLECULAR_CONSEQUENCE=NM_000404.3:c.276G>A:nonsense|NM_001135602.2:c.246-3383G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Infantile_GM1_gangliosidosis;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Infantile+GM1+gangliosidosis/8659|Human_Phenotype_Ontology:HP:0001433|Human_Phenotype_Ontology:HP:0002376|Human_Phenotype_Ontology:HP:0010729|MedGen:C0268271|OMIM:230500|OMIM:611458.0001|OMIM:611458.0002|OMIM:611458.0005|OMIM:611458.0006|OMIM:611458.0007|OMIM:611458.0010|OMIM:611458.0012|OMIM:611458.0014|OMIM:611458.0017|OMIM:611458.0023|Orphanet:354|SNOMED_CT:238026007 -3 33072544 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216935;RCV=RCV000196532;ALLELE_ID=15974;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.245C>T;HGVS_P=NP_000395.2:p.Thr82Met;MOLECULAR_CONSEQUENCE=NM_000404.3:c.245C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Infantile_GM1_gangliosidosis|Infantile_GM1_gangliosidosis;ALL_PMIDS=25326637;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Infantile+GM1+gangliosidosis/8659|MedGen:C0268271|OMIM:230500|OMIM:611458.0001|OMIM:611458.0002|OMIM:611458.0005|OMIM:611458.0006|OMIM:611458.0007|OMIM:611458.0010|OMIM:611458.0012|OMIM:611458.0014|OMIM:611458.0017|OMIM:611458.0023|Orphanet:354|SNOMED_CT:238026007 3 33097006 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=242904;RCV=RCV000234894;ALLELE_ID=244009;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.75+5G>C;MOLECULAR_CONSEQUENCE=NM_000404.3:c.75+5G>C:intron_variant|NM_001079811.2:c.-303G>C:2KB_upstream_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Infantile_GM1_gangliosidosis;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Infantile+GM1+gangliosidosis/8659|Human_Phenotype_Ontology:HP:0001433|Human_Phenotype_Ontology:HP:0002376|Human_Phenotype_Ontology:HP:0010729|MedGen:C0268271|OMIM:230500|OMIM:611458.0001|OMIM:611458.0002|OMIM:611458.0005|OMIM:611458.0006|OMIM:611458.0007|OMIM:611458.0010|OMIM:611458.0012|OMIM:611458.0014|OMIM:611458.0017|OMIM:611458.0023|Orphanet:354|SNOMED_CT:238026007 3 38551513 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=9371;RCV=RCV000009965;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|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10618304..19251209..20129283..20301690..21321465..21810866..23788249..25356965..27854360..9521325;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1517|Genetic_Testing_Registry_(GTR):GTR000316547|Genetic_Testing_Registry_(GTR):GTR000329728|Genetic_Testing_Registry_(GTR):GTR000500447|Genetic_Testing_Registry_(GTR):GTR000502993|Genetic_Testing_Registry_(GTR):GTR000508959|Genetic_Testing_Registry_(GTR):GTR000508974|Genetic_Testing_Registry_(GTR):GTR000511301|Genetic_Testing_Registry_(GTR):GTR000512866|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000523351|Genetic_Testing_Registry_(GTR):GTR000523361|Genetic_Testing_Registry_(GTR):GTR000525923|Genetic_Testing_Registry_(GTR):GTR000528443|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|MedGen:CN029323|OMIM:601144|Orphanet:130 3 38562456 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=9407;RCV=RCV000010010;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|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10532948..15851227..18599870..19841300..20129283..20301690..21810866..23788249..25356965..27854360;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1517|Genetic_Testing_Registry_(GTR):GTR000316547|Genetic_Testing_Registry_(GTR):GTR000329728|Genetic_Testing_Registry_(GTR):GTR000500447|Genetic_Testing_Registry_(GTR):GTR000502993|Genetic_Testing_Registry_(GTR):GTR000508959|Genetic_Testing_Registry_(GTR):GTR000508974|Genetic_Testing_Registry_(GTR):GTR000511301|Genetic_Testing_Registry_(GTR):GTR000512866|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000523351|Genetic_Testing_Registry_(GTR):GTR000523361|Genetic_Testing_Registry_(GTR):GTR000525923|Genetic_Testing_Registry_(GTR):GTR000528443|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|MedGen:CN029323|OMIM:601144|Orphanet:130 @@ -247,8 +186,6 @@ 3 38603929 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=9398;RCV=RCV000010000;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|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;ORIGIN=germline;XREFS=Genetic_Alliance:Progressive+familial+heart+block+type+1A/5978|Genetic_Testing_Registry_(GTR):GTR000500447|Genetic_Testing_Registry_(GTR):GTR000519267|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519405|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000523351|Genetic_Testing_Registry_(GTR):GTR000523361|Genetic_Testing_Registry_(GTR):GTR000528443|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 3 38604067 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=9398;RCV=RCV000010000;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=Pathogenic|Uncertain_significance|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;ORIGIN=germline;XREFS=Genetic_Alliance:Progressive+familial+heart+block+type+1A/5978|Genetic_Testing_Registry_(GTR):GTR000500447|Genetic_Testing_Registry_(GTR):GTR000519267|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519405|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000523351|Genetic_Testing_Registry_(GTR):GTR000523361|Genetic_Testing_Registry_(GTR):GTR000528443|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 3 38613752 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=9407;RCV=RCV000010010;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=Likely_benign|Uncertain_significance|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10532948..15851227..18599870..19841300..20129283..20301690..21810866..23788249..25356965..27854360;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1517|Genetic_Testing_Registry_(GTR):GTR000316547|Genetic_Testing_Registry_(GTR):GTR000329728|Genetic_Testing_Registry_(GTR):GTR000500447|Genetic_Testing_Registry_(GTR):GTR000502993|Genetic_Testing_Registry_(GTR):GTR000508959|Genetic_Testing_Registry_(GTR):GTR000508974|Genetic_Testing_Registry_(GTR):GTR000511301|Genetic_Testing_Registry_(GTR):GTR000512866|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000523351|Genetic_Testing_Registry_(GTR):GTR000523361|Genetic_Testing_Registry_(GTR):GTR000525923|Genetic_Testing_Registry_(GTR):GTR000528443|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|MedGen:CN029323|OMIM:601144|Orphanet:130 -3 38728652 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208970;RCV=RCV000201430;ALLELE_ID=205435;SYMBOL=SCN10A;HGVS_C=NM_006514.3:c.2530C>T;HGVS_P=NP_006505.3:p.Arg844Cys;MOLECULAR_CONSEQUENCE=NM_006514.3:c.2530C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -3 38771281 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208970;RCV=RCV000201430;ALLELE_ID=205436;SYMBOL=SCN10A;HGVS_C=NM_006514.3:c.597G>T;HGVS_P=NP_006505.3:p.Leu199_eq_;MOLECULAR_CONSEQUENCE=NM_006514.3:c.597G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 3 39265671 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8152;RCV=RCV000008629|RCV000008630|RCV000022393|RCV000023109;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|NCBI_curation;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|Age-related_macular_degeneration_12|MACULAR_DEGENERATION..AGE-RELATED..12..SUSCEPTIBILITY_TO;ALL_PMIDS=10731151..11264153..12697743..15208270..17909628..23716478|15208270..17909628;ORIGIN=germline;XREFS=MedGen:C4016733|MedGen:C1832288|Genetic_Alliance:Age-related+macular+degeneration+12/7651|Genetics_Home_Reference:age-related-macular-degeneration|MedGen:C3151079|OMIM:613784|OMIM:601470.0001 3 39265765 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8152;RCV=RCV000008629|RCV000008630|RCV000022393|RCV000023109;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|NCBI_curation;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|Age-related_macular_degeneration_12|MACULAR_DEGENERATION..AGE-RELATED..12..SUSCEPTIBILITY_TO;ALL_PMIDS=10731151..11264153..12697743..15208270..17909628..23716478|15208270..17909628;ORIGIN=germline;XREFS=MedGen:C4016733|MedGen:C1832288|Genetic_Alliance:Age-related+macular+degeneration+12/7651|Genetics_Home_Reference:age-related-macular-degeneration|MedGen:C3151079|OMIM:613784|OMIM:601470.0001 3 42691976 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=228777;RCV=RCV000213109;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 @@ -257,30 +194,12 @@ 3 45516144 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=203992;RCV=RCV000203256;ALLELE_ID=200391;SYMBOL=LARS2;HGVS_C=NM_015340.3:c.1912G>A;HGVS_P=NP_056155.1:p.Glu638Lys;MOLECULAR_CONSEQUENCE=NM_015340.3:c.1912G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Molecular_Genetics_and_RNA_Biology..Humanitas_University;ALL_TRAITS=Perrault_syndrome_4|Perrault_syndrome_4;ALL_PMIDS=26657938;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3809105|OMIM:615300|Orphanet:2855 3 49123179 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14535;RCV=RCV000015634;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nephrotic_syndrome..type_5..with_or_without_ocular_abnormalities|NEPHROTIC_SYNDROME..TYPE_5..WITH_OCULAR_ABNORMALITIES;ALL_PMIDS=16912710;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 3 49123216 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14535;RCV=RCV000015634;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nephrotic_syndrome..type_5..with_or_without_ocular_abnormalities|NEPHROTIC_SYNDROME..TYPE_5..WITH_OCULAR_ABNORMALITIES;ALL_PMIDS=16912710;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -3 49721835 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=266115;RCV=RCV000256412;ALLELE_ID=75121;SYMBOL=GMPPB;HGVS_C=NM_013334.3:c.1081G>A;HGVS_P=NP_037466.2:p.Asp361Asn;MOLECULAR_CONSEQUENCE=NM_013334.3:c.1081G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Diagnostics_Division..CENTRE_FOR_DNA_FINGERPRINTING_AND_DIAGNOSTICS;ALL_TRAITS=Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)..type_b..14|Congenital_muscular_dystrophy|Global_developmental_delay|Microcephaly|Seizures|Smooth_philtrum;ORIGIN=germline;XREFS=HP:HP:0000252|HP:HP:0000319|HP:HP:0001250|HP:HP:0001263|HP:HP:0003741|MedGen:C3809221|OMIM:615351 -3 49721964 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=266115;RCV=RCV000256412;ALLELE_ID=260935;SYMBOL=GMPPB;HGVS_C=NM_013334.3:c.952G>A;HGVS_P=NP_037466.2:p.Val318Ile;MOLECULAR_CONSEQUENCE=NM_013334.3:c.952G>A:missense_variant|NM_021971.2:c.951+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Diagnostics_Division..CENTRE_FOR_DNA_FINGERPRINTING_AND_DIAGNOSTICS;ALL_TRAITS=Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)..type_b..14|Congenital_muscular_dystrophy|Global_developmental_delay|Microcephaly|Seizures|Smooth_philtrum;ORIGIN=germline;XREFS=HP:HP:0000252|HP:HP:0000319|HP:HP:0001250|HP:HP:0001263|HP:HP:0003741|MedGen:C3809221|OMIM:615351 -3 64157305 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=30731;RCV=RCV000023709;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947..26942291..26942292..632821;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:C3151194|OMIM:613832|Orphanet:402082 -3 64157319 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=30731;RCV=RCV000023709;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947..26942291..26942292..632821;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:C3151194|OMIM:613832|Orphanet:402082 +3 64157305 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=30731;RCV=RCV000023709;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947..26942291..26942292..632821;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:CN226157|OMIM:613832|Orphanet:402082 +3 64157319 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=30731;RCV=RCV000023709;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947..26942291..26942292..632821;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:CN226157|OMIM:613832|Orphanet:402082 3 114339010 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=253111;RCV=RCV000239523;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 3 114339384 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=253111;RCV=RCV000239523;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 3 124735222 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=11906;RCV=RCV000012681;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Orotic_aciduria|OROTIC_ACIDURIA;ALL_PMIDS=9042911;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Orotic+aciduria+hereditary/5431|MedGen:C0268128|OMIM:258900|OMIM:258920|Orphanet:30|SNOMED_CT:47641009|SNOMED_CT:90093009 3 124743926 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=11906;RCV=RCV000012681;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Orotic_aciduria|OROTIC_ACIDURIA;ALL_PMIDS=9042911;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Orotic+aciduria+hereditary/5431|MedGen:C0268128|OMIM:258900|OMIM:258920|Orphanet:30|SNOMED_CT:47641009|SNOMED_CT:90093009 -3 128879692 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217744;RCV=RCV000201531;ALLELE_ID=214380;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1A>G;HGVS_P=NP_054768.2:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1A>G:missense_variant|NR_033426.1:n.203A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128879693 . T G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217738;RCV=RCV000201549;ALLELE_ID=214381;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.2T>G;HGVS_P=NP_054768.2:p.Met1Arg;MOLECULAR_CONSEQUENCE=NM_014049.4:c.2T>G:missense_variant|NR_033426.1:n.204T>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128884651 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217741;RCV=RCV000201557;ALLELE_ID=214382;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.151-2A>G;MOLECULAR_CONSEQUENCE=NM_014049.4:c.151-2A>G:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128895320 . CT C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216883|217739;RCV=RCV000199949|RCV000201606;ALLELE_ID=213547;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.359delT;HGVS_P=NP_054768.2:p.Phe120Serfs;MOLECULAR_CONSEQUENCE=NM_014049.4:c.359delT:frameshift_variant|NR_033426.1:n.737delT:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA|Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;ALL_PMIDS=25326637;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128899449 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217744;RCV=RCV000201531;ALLELE_ID=214383;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.796C>T;HGVS_P=NP_054768.2:p.Arg266Trp;MOLECULAR_CONSEQUENCE=NM_014049.4:c.796C>T:missense_variant|NR_033426.1:n.1174C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128904079 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217740;RCV=RCV000201693;ALLELE_ID=139956;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.976G>A;HGVS_P=NP_054768.2:p.Ala326Thr;MOLECULAR_CONSEQUENCE=NM_014049.4:c.976G>A:missense_variant|NR_033426.1:n.1354G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128904118 . T G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217738;RCV=RCV000201549;ALLELE_ID=214384;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1015T>G;HGVS_P=NP_054768.2:p.Phe339Val;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1015T>G:missense_variant|NR_033426.1:n.1393T>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128904385 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217737;RCV=RCV000201722;ALLELE_ID=214385;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1030-1G>T;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1030-1G>T:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128906208 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217742;RCV=RCV000201643;ALLELE_ID=214386;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1237G>A;HGVS_P=NP_054768.2:p.Glu413Lys;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1237G>A:missense_variant|NR_033426.1:n.1615G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128906220 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217737;RCV=RCV000201722;ALLELE_ID=39837;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1249C>T;HGVS_P=NP_054768.2:p.Arg417Cys;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1249C>T:missense_variant|NR_033426.1:n.1627C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128908204 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217741;RCV=RCV000201557;ALLELE_ID=214387;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1298G>A;HGVS_P=NP_054768.2:p.Arg433Gln;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1298G>A:missense_variant|NR_033426.1:n.1676G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128909410 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217742|217743;RCV=RCV000201643|RCV000201736;ALLELE_ID=214388;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1552C>T;HGVS_P=NP_054768.2:p.Arg518Cys;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1552C>T:missense_variant|NR_033426.1:n.1930C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128910014 . ATCCCAGACCATC A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217743;RCV=RCV000201736;ALLELE_ID=214389;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1564-6_1569del;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128910051 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217739;RCV=RCV000201606;ALLELE_ID=39841;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1594C>T;HGVS_P=NP_054768.2:p.Arg532Trp;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1594C>T:missense_variant|NR_033426.1:n.1972C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128910052 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217740;RCV=RCV000201693;ALLELE_ID=214390;SYMBOL=ACAD9;HGVS_C=NM_014049.4:c.1595G>A;HGVS_P=NP_054768.2:p.Arg532Gln;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1595G>A:missense_variant|NR_033426.1:n.1973G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institut_IMAGINE..Institut_National_de_la_Sante_et_de_la_Recherche_Medicale;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Cardiac_hypertrophy|Hyperlactatemia|cardiac_hypertrophy;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 -3 128912587 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216883;RCV=RCV000199949;ALLELE_ID=213548;SYMBOL=KIAA1257;HGVS_C=NM_014049.4:c.1846C>T;HGVS_P=NP_054768.2:p.Pro616Ser;MOLECULAR_CONSEQUENCE=NM_014049.4:c.1846C>T:missense_variant|NR_033426.1:n.2224C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Acyl-CoA_dehydrogenase_family..member_9..deficiency_of|Acyl-CoA_dehydrogenase_family..member_9..deficiency_of;ALL_PMIDS=25326637;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Acyl-CoA+dehydrogenase+family%2C+member+9%2C+deficiency+of/7631|MedGen:C1970173|OMIM:611103.0001|OMIM:611103.0002|OMIM:611103.0003|OMIM:611103.0004|OMIM:611103.0005|OMIM:611103.0006|OMIM:611103.0007|OMIM:611103.0008|OMIM:611126|Orphanet:99901 3 193637313 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=5089;RCV=RCV000005394;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 4 1002767 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=11911;RCV=RCV000012686;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=Benign|Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hurler_syndrome|HURLER_SYNDROME;ALL_PMIDS=20301341..8328452;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1162|Genetic_Alliance:Mucopolysaccharidosis+type+I/4912|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0086795|OMIM:607014 4 1004393 . A T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=11911;RCV=RCV000012686;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hurler_syndrome|HURLER_SYNDROME;ALL_PMIDS=20301341..8328452;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1162|Genetic_Alliance:Mucopolysaccharidosis+type+I/4912|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0086795|OMIM:607014 @@ -288,53 +207,30 @@ 4 1804392 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16353;RCV=RCV000017763;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Achondroplasia|ACHONDROPLASIA;ALL_PMIDS=16411219..20301331..2783977;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_100_000|1.3_per_100..000;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):GTR000319775|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):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|MedGen:C0001080|OMIM:100800|Office_of_Rare_Diseases:8173|Orphanet:15|SNOMED_CT:86268005 4 1805396 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16360;RCV=RCV000017771;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Thanatophoric_dysplasia_type_1|THANATOPHORIC_DYSPLASIA..TYPE_I;ALL_PMIDS=19449430..20301540;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;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):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|MedGen:C1868678|OMIM:187600|Office_of_Rare_Diseases:9295|Orphanet:1860|Orphanet:2655 4 1805644 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16360;RCV=RCV000017771;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Thanatophoric_dysplasia_type_1|THANATOPHORIC_DYSPLASIA..TYPE_I;ALL_PMIDS=19449430..20301540;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;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):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|MedGen:C1868678|OMIM:187600|Office_of_Rare_Diseases:9295|Orphanet:1860|Orphanet:2655 -4 3493242 . G GC . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216920;RCV=RCV000200829;ALLELE_ID=16313;SYMBOL=DOK7;HGVS_C=NM_173660.4:c.1263dupC;HGVS_P=NP_775931.3:p.Ser422Leufs;MOLECULAR_CONSEQUENCE=NM_001164673.1:c.*484dupC:3_prime_UTR_variant|NM_173660.4:c.1263dupC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Myasthenia..limb-girdle..familial|Myasthenia..limb-girdle..familial;ALL_PMIDS=20301347..25326637;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1168|Genetic_Alliance:Myasthenia%2C+familial+limb-girdle/4999|MedGen:C1850792|OMIM:254300|OMIM:610285.0001|OMIM:610285.0002|OMIM:610285.0003|OMIM:610285.0004|OMIM:610285.0005|OMIM:610285.0006|OMIM:610285.0007|OMIM:610285.0008|OMIM:610285.0009|OMIM:610285.0010|Orphanet:590 -4 3493242 . GC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216920;RCV=RCV000200829;ALLELE_ID=213555;SYMBOL=DOK7;HGVS_C=NM_173660.4:c.1263delC;HGVS_P=NP_775931.3:p.Ser422Hisfs;MOLECULAR_CONSEQUENCE=NM_001164673.1:c.*484delC:3_prime_UTR_variant|NM_173660.4:c.1263delC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Myasthenia..limb-girdle..familial|Myasthenia..limb-girdle..familial;ALL_PMIDS=20301347..25326637;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1168|Genetic_Alliance:Myasthenia%2C+familial+limb-girdle/4999|MedGen:C1850792|OMIM:254300|OMIM:610285.0001|OMIM:610285.0002|OMIM:610285.0003|OMIM:610285.0004|OMIM:610285.0005|OMIM:610285.0006|OMIM:610285.0007|OMIM:610285.0008|OMIM:610285.0009|OMIM:610285.0010|Orphanet:590 -4 15587842 . TGAA T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202201;RCV=RCV000184047;ALLELE_ID=198620;SYMBOL=CC2D2A;HGVS_C=NM_001080522.2:c.4093_4095delGAA;HGVS_P=NP_001073991.2:p.Glu1367del;MOLECULAR_CONSEQUENCE=NM_001080522.2:c.4093_4095delGAA:inframe_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Joubert_syndrome_9|Joubert_syndrome_9;ALL_PMIDS=20301500;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Joubert+syndrome+9/8695|Genetic_Testing_Registry_(GTR):GTR000500621|Genetic_Testing_Registry_(GTR):GTR000509766|Genetic_Testing_Registry_(GTR):GTR000512672|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000552165|Genetic_Testing_Registry_(GTR):GTR000552175|Genetics_Home_Reference:joubert-syndrome|MedGen:C2676788|OMIM:612285|Orphanet:2318 -4 15599626 . CCT C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202201;RCV=RCV000184047;ALLELE_ID=198621;SYMBOL=CC2D2A;HGVS_C=NM_001080522.2:c.4595_4596delCT;HGVS_P=NP_001073991.2:p.Leu1533Valfs;MOLECULAR_CONSEQUENCE=NM_001080522.2:c.4595_4596delCT:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Joubert_syndrome_9|Joubert_syndrome_9;ALL_PMIDS=20301500;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Joubert+syndrome+9/8695|Genetic_Testing_Registry_(GTR):GTR000500621|Genetic_Testing_Registry_(GTR):GTR000509766|Genetic_Testing_Registry_(GTR):GTR000512672|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000552165|Genetic_Testing_Registry_(GTR):GTR000552175|Genetics_Home_Reference:joubert-syndrome|MedGen:C2676788|OMIM:612285|Orphanet:2318 -4 47937535 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216906;RCV=RCV000199453;ALLELE_ID=31971;SYMBOL=CNGA1;HGVS_C=NM_000087.3:c.959C>T;HGVS_P=NP_001136036.1:p.Ser389Phe;MOLECULAR_CONSEQUENCE=NM_001142564.1:c.1166C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Retinitis_pigmentosa_49|Retinitis_pigmentosa_49;ALL_PMIDS=25326637;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Retinitis+pigmentosa+49/9236|MedGen:C3151059|OMIM:613756|Orphanet:791 -4 47940775 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216906;RCV=RCV000199453;ALLELE_ID=213556;SYMBOL=CNGA1;HGVS_C=NM_001142564.1:c.859C>T;HGVS_P=NP_001136036.1:p.Arg287Ter;MOLECULAR_CONSEQUENCE=NM_001142564.1:c.859C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Retinitis_pigmentosa_49|Retinitis_pigmentosa_49;ALL_PMIDS=25326637;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Retinitis+pigmentosa+49/9236|MedGen:C3151059|OMIM:613756|Orphanet:791 4 67740661 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=219104;RCV=RCV000203470;ALLELE_ID=150302;SYMBOL=GNRHR;HGVS_C=NM_000406.2:c.806C>T;HGVS_P=NP_000397.1:p.Thr269Met;MOLECULAR_CONSEQUENCE=NM_000406.2:c.806C>T:missense_variant|NM_001012763.1:c.678C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Research_Centre_for__Medical_Genetics;ALL_TRAITS=Hypogonadotropic_hypogonadism_7_with_or_without_anosmia;ALL_PMIDS=20301509;AGE_OF_ONSET=Infancy;ORIGIN=inherited;XREFS=Department_of_Endocrinology..Seth_G.S._Medical_College_and_K.E.M._Hospital:GnSn_Ex3|GeneReviews:NBK1334|Genetic_Alliance:Hypogonadism%2C+isolated%2C+hypogonadotropic/3650|Genetic_Testing_Registry_(GTR):GTR000278766|MedGen:C0271623|OMIM:138850.0001|OMIM:138850.0002|OMIM:138850.0003|OMIM:138850.0004|OMIM:138850.0005|OMIM:138850.0006|OMIM:138850.0007|OMIM:138850.0008|OMIM:138850.0009|OMIM:138850.0010|OMIM:138850.0011|OMIM:138850.0012|OMIM:138850.0013|OMIM:138850.0014|OMIM:146110|Orphanet:432|SNOMED_CT:33927004 4 67753920 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=219104;RCV=RCV000203470;ALLELE_ID=31069;SYMBOL=GNRHR;HGVS_C=NM_000406.2:c.416G>A;HGVS_P=NP_000397.1:p.Arg139His;MOLECULAR_CONSEQUENCE=NM_000406.2:c.416G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Research_Centre_for__Medical_Genetics;ALL_TRAITS=Hypogonadotropic_hypogonadism_7_with_or_without_anosmia;ALL_PMIDS=20301509;AGE_OF_ONSET=Infancy;ORIGIN=inherited;XREFS=Department_of_Endocrinology..Seth_G.S._Medical_College_and_K.E.M._Hospital:GnSn_Ex3|GeneReviews:NBK1334|Genetic_Alliance:Hypogonadism%2C+isolated%2C+hypogonadotropic/3650|Genetic_Testing_Registry_(GTR):GTR000278766|MedGen:C0271623|OMIM:138850.0001|OMIM:138850.0002|OMIM:138850.0003|OMIM:138850.0004|OMIM:138850.0005|OMIM:138850.0006|OMIM:138850.0007|OMIM:138850.0008|OMIM:138850.0009|OMIM:138850.0010|OMIM:138850.0011|OMIM:138850.0012|OMIM:138850.0013|OMIM:138850.0014|OMIM:146110|Orphanet:432|SNOMED_CT:33927004 4 70033186 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14913;RCV=RCV000016048;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HIS2*1/HIS2*2_POLYMORPHISM|HIS2*1/HIS2*2_POLYMORPHISM;ALL_PMIDS=7951254;ORIGIN=germline;XREFS=OMIM:142702.0001 4 70033205 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14913;RCV=RCV000016048;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HIS2*1/HIS2*2_POLYMORPHISM|HIS2*1/HIS2*2_POLYMORPHISM;ALL_PMIDS=7951254;ORIGIN=germline;XREFS=OMIM:142702.0001 -4 102267901 . A T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218916;RCV=RCV000203261;ALLELE_ID=215656;SYMBOL=SLC39A8;HGVS_C=NM_022154.5:c.1019T>A;HGVS_P=NP_071437.3:p.Ile340Asn;MOLECULAR_CONSEQUENCE=NM_022154.5:c.1019T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Metabolic_Research_Unit..Children's_University_Hospital_Muenster;ALL_TRAITS=SLC39A8_deficiency|SLC39A8_deficiency;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:CN234734 -4 102267916 . C G . . MEASURESET_TYPE=CompoundHeterozygote|Haplotype;MEASURESET_ID=218917|218898;RCV=RCV000203267|RCV000203237;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Metabolic_Research_Unit..Children's_University_Hospital_Muenster|OMIM;ALL_TRAITS=SLC39A8_deficiency|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:CN234734|MedGen:CN234667|OMIM:608732.0001|OMIM:608732.0002|OMIM:608732.0003|OMIM:608732.0004|OMIM:616721 -4 102305054 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218917;RCV=RCV000203267;ALLELE_ID=215657;SYMBOL=SLC39A8;HGVS_C=NM_022154.5:c.610G>T;HGVS_P=NP_071437.3:p.Gly204Cys;MOLECULAR_CONSEQUENCE=NM_022154.5:c.610G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Metabolic_Research_Unit..Children's_University_Hospital_Muenster;ALL_TRAITS=SLC39A8_deficiency|SLC39A8_deficiency;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:CN234734 -4 102344551 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218916;RCV=RCV000203261;ALLELE_ID=215655;SYMBOL=SLC39A8;HGVS_C=NM_022154.5:c.112G>C;HGVS_P=NP_071437.3:p.Gly38Arg;MOLECULAR_CONSEQUENCE=NM_022154.5:c.112G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Metabolic_Research_Unit..Children's_University_Hospital_Muenster;ALL_TRAITS=SLC39A8_deficiency|SLC39A8_deficiency;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:CN234734 -4 102344566 . C T . . MEASURESET_TYPE=CompoundHeterozygote|Haplotype;MEASURESET_ID=218917|218898;RCV=RCV000203267|RCV000203237;ALLELE_ID=215659;SYMBOL=SLC39A8;HGVS_C=NM_022154.5:c.97G>A;HGVS_P=NP_071437.3:p.Val33Met;MOLECULAR_CONSEQUENCE=NM_022154.5:c.97G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Metabolic_Research_Unit..Children's_University_Hospital_Muenster|OMIM;ALL_TRAITS=SLC39A8_deficiency|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:CN234734|MedGen:CN234667|OMIM:608732.0001|OMIM:608732.0002|OMIM:608732.0003|OMIM:608732.0004|OMIM:616721 +4 102267916 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=218898;RCV=RCV000203237;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:CN234667|OMIM:608732.0001|OMIM:608732.0002|OMIM:608732.0003|OMIM:608732.0004|OMIM:616721 +4 102344566 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=218898;RCV=RCV000203237;ALLELE_ID=215659;SYMBOL=SLC39A8;HGVS_C=NM_022154.5:c.97G>A;HGVS_P=NP_071437.3:p.Val33Met;MOLECULAR_CONSEQUENCE=NM_022154.5:c.97G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:CN234667|OMIM:608732.0001|OMIM:608732.0002|OMIM:608732.0003|OMIM:608732.0004|OMIM:616721 4 108167587 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14382;RCV=RCV000015459;ALLELE_ID=38464;SYMBOL=LEF1-AS1;HGVS_C=NM_016269.4:c.181T>C;HGVS_P=NP_057353.1:p.Ser61Pro;MOLECULAR_CONSEQUENCE=NM_001166119.1:c.-1307T>C:2KB_upstream_variant|NM_016269.4:c.181T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Sebaceous_tumors..somatic|SEBACEOUS_TUMORS..SOMATIC;ALL_PMIDS=16565724;ORIGIN=somatic;XREFS=MedGen:C1835244 4 108167635 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14382;RCV=RCV000015459;ALLELE_ID=29421;SYMBOL=LEF1-AS1;HGVS_C=NM_016269.4:c.133G>A;HGVS_P=NP_057353.1:p.Glu45Lys;MOLECULAR_CONSEQUENCE=NM_001166119.1:c.-1355G>A:2KB_upstream_variant|NM_016269.4:c.133G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Sebaceous_tumors..somatic|SEBACEOUS_TUMORS..SOMATIC;ALL_PMIDS=16565724;ORIGIN=somatic;XREFS=MedGen:C1835244 -4 158706270 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216925;RCV=RCV000198866;ALLELE_ID=100972;SYMBOL=ETFDH;HGVS_C=NM_004453.3:c.1367C>T;HGVS_P=NP_004444.2:p.Pro456Leu;MOLECULAR_CONSEQUENCE=NM_004453.3:c.1367C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Glutaric_aciduria..type_2|Glutaric_aciduria..type_2;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Glutaric+Acidemia+II/3111|Genetic_Testing_Registry_(GTR):GTR000501219|Genetic_Testing_Registry_(GTR):GTR000502508|Genetic_Testing_Registry_(GTR):GTR000502511|Genetic_Testing_Registry_(GTR):GTR000506340|Genetic_Testing_Registry_(GTR):GTR000506342|Genetic_Testing_Registry_(GTR):GTR000506345|Genetic_Testing_Registry_(GTR):GTR000506573|Genetic_Testing_Registry_(GTR):GTR000512505|Genetic_Testing_Registry_(GTR):GTR000512506|Genetic_Testing_Registry_(GTR):GTR000514645|Genetic_Testing_Registry_(GTR):GTR000521370|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528277|MedGen:C0268596|OMIM:231680|Office_of_Rare_Diseases:6523|Orphanet:26791|SNOMED_CT:22886006 -4 158706647 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216925;RCV=RCV000198866;ALLELE_ID=213553;SYMBOL=ETFDH;HGVS_C=NM_004453.3:c.1487T>C;HGVS_P=NP_004444.2:p.Leu496Pro;MOLECULAR_CONSEQUENCE=NM_004453.3:c.1487T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Glutaric_aciduria..type_2|Glutaric_aciduria..type_2;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Glutaric+Acidemia+II/3111|Genetic_Testing_Registry_(GTR):GTR000501219|Genetic_Testing_Registry_(GTR):GTR000502508|Genetic_Testing_Registry_(GTR):GTR000502511|Genetic_Testing_Registry_(GTR):GTR000506340|Genetic_Testing_Registry_(GTR):GTR000506342|Genetic_Testing_Registry_(GTR):GTR000506345|Genetic_Testing_Registry_(GTR):GTR000506573|Genetic_Testing_Registry_(GTR):GTR000512505|Genetic_Testing_Registry_(GTR):GTR000512506|Genetic_Testing_Registry_(GTR):GTR000514645|Genetic_Testing_Registry_(GTR):GTR000521370|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528277|MedGen:C0268596|OMIM:231680|Office_of_Rare_Diseases:6523|Orphanet:26791|SNOMED_CT:22886006 5 225434 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190221;RCV=RCV000170440;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Mitochondrial_complex_II_deficiency|Mitochondrial_complex_II_deficiency;ALL_PMIDS=10746566..22972948;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Mitochondrial+complex+II+deficiency/4824|MedGen:C1855008|OMIM:252011|Office_of_Rare_Diseases:5053|Orphanet:3208 5 240474 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190221;RCV=RCV000170440;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Mitochondrial_complex_II_deficiency|Mitochondrial_complex_II_deficiency;ALL_PMIDS=10746566..22972948;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Mitochondrial+complex+II+deficiency/4824|MedGen:C1855008|OMIM:252011|Office_of_Rare_Diseases:5053|Orphanet:3208 5 1266519 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=36946;RCV=RCV000030627;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Pulmonary_fibrosis_and/or_bone_marrow_failure..telomere-related..1|PULMONARY_FIBROSIS..TELOMERE-RELATED..1;ALL_PMIDS=21483807;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_1_000_000;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 5 1272196 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=36946;RCV=RCV000030627;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Pulmonary_fibrosis_and/or_bone_marrow_failure..telomere-related..1|PULMONARY_FIBROSIS..TELOMERE-RELATED..1;ALL_PMIDS=21483807;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_1_000_000;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 -5 33944787 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217000;RCV=RCV000199265;ALLELE_ID=213559;SYMBOL=SLC45A2;HGVS_C=NM_016180.4:c.1454T>C;HGVS_P=NP_057264.3:p.Leu485Pro;MOLECULAR_CONSEQUENCE=NM_016180.4:c.1454T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Oculocutaneous_albinism_type_4|Oculocutaneous_albinism_type_4;ALL_PMIDS=20301683..25326637;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1510|Genetic_Alliance:Oculocutaneous+albinism%2C+type+4/9033|MedGen:C1847836|OMIM:606574|Orphanet:79435 -5 33984319 . CG C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217000;RCV=RCV000199265;ALLELE_ID=213560;SYMBOL=SLC45A2;HGVS_C=NM_016180.4:c.264delC;HGVS_P=NP_057264.3:p.Gly89Aspfs;MOLECULAR_CONSEQUENCE=NM_016180.4:c.264delC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Oculocutaneous_albinism_type_4|Oculocutaneous_albinism_type_4;ALL_PMIDS=20301683..25326637;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1510|Genetic_Alliance:Oculocutaneous+albinism%2C+type+4/9033|MedGen:C1847836|OMIM:606574|Orphanet:79435 -5 37169056 . T G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375266;RCV=RCV000416362;ALLELE_ID=361968;SYMBOL=C5orf42;HGVS_C=NM_023073.3:c.6968A>C;HGVS_P=NP_075561.3:p.Gln2323Pro;MOLECULAR_CONSEQUENCE=NM_023073.3:c.6968A>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Orofaciodigital_syndrome_6|Joubert_syndrome_17;ALL_PMIDS=20301500..21448235..25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Antenatal|Infancy;PREVALENCE=1-9_/_100_000|<1_/_1_000_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1325|Genetic_Alliance:Joubert+syndrome+17/8692|Genetic_Alliance:Orofaciodigital+syndrome+6/5425|Genetic_Testing_Registry_(GTR):GTR000500621|Genetic_Testing_Registry_(GTR):GTR000512676|Genetic_Testing_Registry_(GTR):GTR000552165|Genetic_Testing_Registry_(GTR):GTR000552175|MedGen:C2745997|MedGen:C3553264|OMIM:277170|OMIM:614615|Office_of_Rare_Diseases:5458|Orphanet:2754|Orphanet:475 -5 37226515 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375266;RCV=RCV000416362;ALLELE_ID=361969;SYMBOL=C5orf42;HGVS_C=NM_023073.3:c.2080A>G;HGVS_P=NP_075561.3:p.Met694Val;MOLECULAR_CONSEQUENCE=NM_023073.3:c.2080A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Orofaciodigital_syndrome_6|Joubert_syndrome_17;ALL_PMIDS=20301500..21448235..25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Antenatal|Infancy;PREVALENCE=1-9_/_100_000|<1_/_1_000_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1325|Genetic_Alliance:Joubert+syndrome+17/8692|Genetic_Alliance:Orofaciodigital+syndrome+6/5425|Genetic_Testing_Registry_(GTR):GTR000500621|Genetic_Testing_Registry_(GTR):GTR000512676|Genetic_Testing_Registry_(GTR):GTR000552165|Genetic_Testing_Registry_(GTR):GTR000552175|MedGen:C2745997|MedGen:C3553264|OMIM:277170|OMIM:614615|Office_of_Rare_Diseases:5458|Orphanet:2754|Orphanet:475 +5 37169056 . T G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375266;RCV=RCV000416362;ALLELE_ID=361968;SYMBOL=C5orf42;HGVS_C=NM_023073.3:c.6968A>C;HGVS_P=NP_075561.3:p.Gln2323Pro;MOLECULAR_CONSEQUENCE=NM_023073.3:c.6968A>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Orofaciodigital_syndrome_6|Joubert_syndrome_17;ALL_PMIDS=20301500..21448235..25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Antenatal|Infancy;PREVALENCE=1-9_/_100_000|<1_/_1_000_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1325|Genetic_Alliance:Joubert+syndrome+17/8692|Genetic_Alliance:Orofaciodigital+syndrome+6/5425|Genetic_Testing_Registry_(GTR):GTR000500621|Genetic_Testing_Registry_(GTR):GTR000512676|Genetic_Testing_Registry_(GTR):GTR000552165|Genetic_Testing_Registry_(GTR):GTR000552175|Genetic_Testing_Registry_(GTR):GTR000553130|Genetic_Testing_Registry_(GTR):GTR000553398|MedGen:C2745997|MedGen:C3553264|OMIM:277170|OMIM:614615|Office_of_Rare_Diseases:5458|Orphanet:2754|Orphanet:475 +5 37226515 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375266;RCV=RCV000416362;ALLELE_ID=361969;SYMBOL=C5orf42;HGVS_C=NM_023073.3:c.2080A>G;HGVS_P=NP_075561.3:p.Met694Val;MOLECULAR_CONSEQUENCE=NM_023073.3:c.2080A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Orofaciodigital_syndrome_6|Joubert_syndrome_17;ALL_PMIDS=20301500..21448235..25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Antenatal|Infancy;PREVALENCE=1-9_/_100_000|<1_/_1_000_000;ORIGIN=inherited;XREFS=GeneReviews:NBK1325|Genetic_Alliance:Joubert+syndrome+17/8692|Genetic_Alliance:Orofaciodigital+syndrome+6/5425|Genetic_Testing_Registry_(GTR):GTR000500621|Genetic_Testing_Registry_(GTR):GTR000512676|Genetic_Testing_Registry_(GTR):GTR000552165|Genetic_Testing_Registry_(GTR):GTR000552175|Genetic_Testing_Registry_(GTR):GTR000553130|Genetic_Testing_Registry_(GTR):GTR000553398|MedGen:C2745997|MedGen:C3553264|OMIM:277170|OMIM:614615|Office_of_Rare_Diseases:5458|Orphanet:2754|Orphanet:475 5 41853435 . A T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8165;RCV=RCV000008643;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Succinyl-CoA_acetoacetate_transferase_deficiency|SUCCINYL-CoA:3-OXOACID-CoA_TRANSFERASE_DEFICIENCY;ALL_PMIDS=9671268;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 5 41862656 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8165;RCV=RCV000008643;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Succinyl-CoA_acetoacetate_transferase_deficiency|SUCCINYL-CoA:3-OXOACID-CoA_TRANSFERASE_DEFICIENCY;ALL_PMIDS=9671268;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 5 112707523 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=243004;RCV=RCV000234986;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=2.29_to_3.2_per_100..000_individuals;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1345|Genetic_Testing_Registry_(GTR):GTR000017525|Genetic_Testing_Registry_(GTR):GTR000172265|Genetic_Testing_Registry_(GTR):GTR000321103|Genetic_Testing_Registry_(GTR):GTR000323395|Genetic_Testing_Registry_(GTR):GTR000326160|Genetic_Testing_Registry_(GTR):GTR000330056|Genetic_Testing_Registry_(GTR):GTR000500012|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 5 112707592 . GA G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=243004;RCV=RCV000234986;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=2.29_to_3.2_per_100..000_individuals;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1345|Genetic_Testing_Registry_(GTR):GTR000017525|Genetic_Testing_Registry_(GTR):GTR000172265|Genetic_Testing_Registry_(GTR):GTR000321103|Genetic_Testing_Registry_(GTR):GTR000323395|Genetic_Testing_Registry_(GTR):GTR000326160|Genetic_Testing_Registry_(GTR):GTR000330056|Genetic_Testing_Registry_(GTR):GTR000500012|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 -5 119456320 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202199;RCV=RCV000184045;ALLELE_ID=198623;SYMBOL=HSD17B4;HGVS_C=NM_000414.3:c.64G>T;HGVS_P=NP_000405.1:p.Gly22Cys;MOLECULAR_CONSEQUENCE=NM_000414.3:c.64G>T:missense_variant|NM_001199292.1:c.58+3687G>T:intron_variant|NM_001292027.1:c.-74G>T:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Bifunctional_peroxisomal_enzyme_deficiency|Bifunctional_peroxisomal_enzyme_deficiency;ALL_PMIDS=16385454;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1/200..000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:D-Bifunctional+Protein+Deficiency/2093|Genetic_Testing_Registry_(GTR):GTR000028499|Genetic_Testing_Registry_(GTR):GTR000070507|Genetic_Testing_Registry_(GTR):GTR000500811|Genetic_Testing_Registry_(GTR):GTR000515759|Genetic_Testing_Registry_(GTR):GTR000515764|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0342870|OMIM:261515|SNOMED_CT:238068007 -5 119493897 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202199;RCV=RCV000184045;ALLELE_ID=198624;SYMBOL=HSD17B4;HGVS_C=NM_000414.3:c.819G>T;HGVS_P=NP_000405.1:p.Trp273Cys;MOLECULAR_CONSEQUENCE=NM_000414.3:c.819G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Bifunctional_peroxisomal_enzyme_deficiency|Bifunctional_peroxisomal_enzyme_deficiency;ALL_PMIDS=16385454;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1/200..000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:D-Bifunctional+Protein+Deficiency/2093|Genetic_Testing_Registry_(GTR):GTR000028499|Genetic_Testing_Registry_(GTR):GTR000070507|Genetic_Testing_Registry_(GTR):GTR000500811|Genetic_Testing_Registry_(GTR):GTR000515759|Genetic_Testing_Registry_(GTR):GTR000515764|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0342870|OMIM:261515|SNOMED_CT:238068007 5 136056754 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7874;RCV=RCV000008323;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Lattice_corneal_dystrophy_Type_I|CORNEAL_DYSTROPHY..LATTICE_TYPE_I;ALL_PMIDS=15111592..15531312;AGE_OF_ONSET=All_ages;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 5 136056769 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7874;RCV=RCV000008323;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Lattice_corneal_dystrophy_Type_I|CORNEAL_DYSTROPHY..LATTICE_TYPE_I;ALL_PMIDS=15111592..15531312;AGE_OF_ONSET=All_ages;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 -5 151566159 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208976;RCV=RCV000201322;ALLELE_ID=205443;SYMBOL=FAT2;HGVS_C=NM_001447.2:c.2773T>C;HGVS_P=NP_001438.1:p.Cys925Arg;MOLECULAR_CONSEQUENCE=NM_001447.2:c.2773T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -5 151568002 . A C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208976;RCV=RCV000201322;ALLELE_ID=205444;SYMBOL=FAT2;HGVS_C=NM_001447.2:c.930T>G;HGVS_P=NP_001438.1:p.Asn310Lys;MOLECULAR_CONSEQUENCE=NM_001447.2:c.930T>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -5 151822764 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=38338;RCV=RCV000031896;ALLELE_ID=46901;SYMBOL=GLRA1;HGVS_C=NM_001146040.1:c.1283G>A;HGVS_P=NP_001139512.1:p.Arg428His;MOLECULAR_CONSEQUENCE=NM_001146040.1:c.1283G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Hyperekplexia_hereditary|Hyperekplexia;ALL_PMIDS=20301437;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK1260|Genetic_Alliance:Hyperekplexia+hereditary/3551|MedGen:C1835614|OMIM:138491.0001|OMIM:138491.0002|OMIM:138491.0003|OMIM:138491.0004|OMIM:138491.0005|OMIM:138491.0006|OMIM:138491.0007|OMIM:138491.0008|OMIM:138491.0009|OMIM:138491.0010|OMIM:138491.0011|OMIM:138491.0012|OMIM:138491.0013|OMIM:138491.0014|OMIM:138491.0015|OMIM:149400|Office_of_Rare_Diseases:3129|Orphanet:3197 -5 151828950 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=38336;RCV=RCV000031894;ALLELE_ID=46899;SYMBOL=GLRA1;HGVS_C=NM_001146040.1:c.1030C>T;HGVS_P=NP_001139512.1:p.Arg344Ter;MOLECULAR_CONSEQUENCE=NM_001146040.1:c.1030C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Hyperekplexia_hereditary|Hyperekplexia;ALL_PMIDS=20301437;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK1260|Genetic_Alliance:Hyperekplexia+hereditary/3551|MedGen:C1835614|OMIM:138491.0001|OMIM:138491.0002|OMIM:138491.0003|OMIM:138491.0004|OMIM:138491.0005|OMIM:138491.0006|OMIM:138491.0007|OMIM:138491.0008|OMIM:138491.0009|OMIM:138491.0010|OMIM:138491.0011|OMIM:138491.0012|OMIM:138491.0013|OMIM:138491.0014|OMIM:138491.0015|OMIM:149400|Office_of_Rare_Diseases:3129|Orphanet:3197 -5 151851463 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=38338;RCV=RCV000031896;ALLELE_ID=46902;SYMBOL=GLRA1;HGVS_C=NM_001146040.1:c.839G>A;HGVS_P=NP_001139512.1:p.Arg280His;MOLECULAR_CONSEQUENCE=NM_001146040.1:c.839G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Hyperekplexia_hereditary|Hyperekplexia;ALL_PMIDS=20301437;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK1260|Genetic_Alliance:Hyperekplexia+hereditary/3551|MedGen:C1835614|OMIM:138491.0001|OMIM:138491.0002|OMIM:138491.0003|OMIM:138491.0004|OMIM:138491.0005|OMIM:138491.0006|OMIM:138491.0007|OMIM:138491.0008|OMIM:138491.0009|OMIM:138491.0010|OMIM:138491.0011|OMIM:138491.0012|OMIM:138491.0013|OMIM:138491.0014|OMIM:138491.0015|OMIM:149400|Office_of_Rare_Diseases:3129|Orphanet:3197 -5 151856337 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=38337;RCV=RCV000031895;ALLELE_ID=31107;SYMBOL=GLRA1;HGVS_C=NM_001146040.1:c.523A>G;HGVS_P=NP_001139512.1:p.Met175Val;MOLECULAR_CONSEQUENCE=NM_001146040.1:c.523A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Hyperekplexia_hereditary|Hyperekplexia;ALL_PMIDS=20301437;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK1260|Genetic_Alliance:Hyperekplexia+hereditary/3551|MedGen:C1835614|OMIM:138491.0001|OMIM:138491.0002|OMIM:138491.0003|OMIM:138491.0004|OMIM:138491.0005|OMIM:138491.0006|OMIM:138491.0007|OMIM:138491.0008|OMIM:138491.0009|OMIM:138491.0010|OMIM:138491.0011|OMIM:138491.0012|OMIM:138491.0013|OMIM:138491.0014|OMIM:138491.0015|OMIM:149400|Office_of_Rare_Diseases:3129|Orphanet:3197 -5 151859962 . CG C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=38337;RCV=RCV000031895;ALLELE_ID=31106;SYMBOL=GLRA1;HGVS_C=NM_001146040.1:c.298delC;HGVS_P=NP_001139512.1:p.Arg100Alafs;MOLECULAR_CONSEQUENCE=NM_001146040.1:c.298delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Hyperekplexia_hereditary|Hyperekplexia;ALL_PMIDS=20301437;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK1260|Genetic_Alliance:Hyperekplexia+hereditary/3551|MedGen:C1835614|OMIM:138491.0001|OMIM:138491.0002|OMIM:138491.0003|OMIM:138491.0004|OMIM:138491.0005|OMIM:138491.0006|OMIM:138491.0007|OMIM:138491.0008|OMIM:138491.0009|OMIM:138491.0010|OMIM:138491.0011|OMIM:138491.0012|OMIM:138491.0013|OMIM:138491.0014|OMIM:138491.0015|OMIM:149400|Office_of_Rare_Diseases:3129|Orphanet:3197 -5 151859973 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=38336;RCV=RCV000031894;ALLELE_ID=46900;SYMBOL=GLRA1;HGVS_C=NM_001146040.1:c.288G>T;HGVS_P=NP_001139512.1:p.Trp96Cys;MOLECULAR_CONSEQUENCE=NM_001146040.1:c.288G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Hyperekplexia_hereditary|Hyperekplexia;ALL_PMIDS=20301437;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK1260|Genetic_Alliance:Hyperekplexia+hereditary/3551|MedGen:C1835614|OMIM:138491.0001|OMIM:138491.0002|OMIM:138491.0003|OMIM:138491.0004|OMIM:138491.0005|OMIM:138491.0006|OMIM:138491.0007|OMIM:138491.0008|OMIM:138491.0009|OMIM:138491.0010|OMIM:138491.0011|OMIM:138491.0012|OMIM:138491.0013|OMIM:138491.0014|OMIM:138491.0015|OMIM:149400|Office_of_Rare_Diseases:3129|Orphanet:3197 6 10874380 . A T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=375590;RCV=RCV000417072;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HYPERPARATHYROIDISM_4|HYPERPARATHYROIDISM_4;ALL_PMIDS=27745835;ORIGIN=germline;XREFS=MedGen:CN240514|OMIM:603716.0005|OMIM:603716.0006|OMIM:617343 6 10874765 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=375590;RCV=RCV000417072;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HYPERPARATHYROIDISM_4|HYPERPARATHYROIDISM_4;ALL_PMIDS=27745835;ORIGIN=germline;XREFS=MedGen:CN240514|OMIM:603716.0005|OMIM:603716.0006|OMIM:617343 -6 18130687 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12722;RCV=RCV000013559;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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|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 -6 18138997 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12722;RCV=RCV000013559;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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|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 +6 18130687 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12722;RCV=RCV000013559;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 +6 18138997 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12722;RCV=RCV000013559;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 6 32039178 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375280;RCV=RCV000416360;ALLELE_ID=362051;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.377C>G;HGVS_P=NP_000491.4:p.Ser126Ter;MOLECULAR_CONSEQUENCE=NM_000500.7:c.377C>G:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=21-hydroxylase_deficiency;ALL_PMIDS=20301350..25741868;ORIGIN=inherited;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757 6 32039426 . T A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375268|375280;RCV=RCV000416339|RCV000416360;ALLELE_ID=27189;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.518T>A;HGVS_P=NP_000491.4:p.Ile173Asn;MOLECULAR_CONSEQUENCE=NM_000500.7:c.518T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=21-hydroxylase_deficiency;ALL_PMIDS=20301350..25741868;ORIGIN=inherited;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757 6 32039807 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=31662;RCV=RCV000012947;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 @@ -347,38 +243,18 @@ 6 32040535 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12182;RCV=RCV000417198;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 6 39909922 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208497;RCV=RCV000190510;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Molybdenum_cofactor_deficiency..complementation_group_A;ALL_PMIDS=21031595;AGE_OF_ONSET=Antenatal;ORIGIN=germline;XREFS=Genetics_Home_Reference:molybdenum-cofactor-deficiency|MedGen:C1854988|OMIM:252150|Orphanet:833 6 39912909 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208497;RCV=RCV000190510;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Molybdenum_cofactor_deficiency..complementation_group_A;ALL_PMIDS=21031595;AGE_OF_ONSET=Antenatal;ORIGIN=germline;XREFS=Genetics_Home_Reference:molybdenum-cofactor-deficiency|MedGen:C1854988|OMIM:252150|Orphanet:833 -6 49440270 . GC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216966;RCV=RCV000197802;ALLELE_ID=213573;SYMBOL=MUT;HGVS_C=NM_000255.3:c.1891delG;HGVS_P=NP_000246.2:p.Ala631Glnfs;MOLECULAR_CONSEQUENCE=NM_000255.3:c.1891delG:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency|Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency;ALL_PMIDS=20301409..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1231|Genetic_Alliance:Methylmalonyl-Coenzyme+A+mutase+deficiency/4721|Genetic_Testing_Registry_(GTR):GTR000501452|Genetic_Testing_Registry_(GTR):GTR000501455|Genetic_Testing_Registry_(GTR):GTR000506447|Genetic_Testing_Registry_(GTR):GTR000509073|Genetic_Testing_Registry_(GTR):GTR000519388|Genetic_Testing_Registry_(GTR):GTR000521400|Genetic_Testing_Registry_(GTR):GTR000528607|Genetic_Testing_Registry_(GTR):GTR000552249|MedGen:C1855114|OMIM:251000 -6 49459145 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216966;RCV=RCV000197802;ALLELE_ID=16926;SYMBOL=MUT;HGVS_C=NM_000255.3:c.322C>T;HGVS_P=NP_000246.2:p.Arg108Cys;MOLECULAR_CONSEQUENCE=NM_000255.3:c.322C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency|Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency;ALL_PMIDS=20301409..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1231|Genetic_Alliance:Methylmalonyl-Coenzyme+A+mutase+deficiency/4721|Genetic_Testing_Registry_(GTR):GTR000501452|Genetic_Testing_Registry_(GTR):GTR000501455|Genetic_Testing_Registry_(GTR):GTR000506447|Genetic_Testing_Registry_(GTR):GTR000509073|Genetic_Testing_Registry_(GTR):GTR000519388|Genetic_Testing_Registry_(GTR):GTR000521400|Genetic_Testing_Registry_(GTR):GTR000528607|Genetic_Testing_Registry_(GTR):GTR000552249|MedGen:C1855114|OMIM:251000 6 49612504 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13065;RCV=RCV000013940;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Rh-null_hemolytic_anemia..regulator_type|RH-NULL_HEMOLYTIC_ANEMIA..REGULATOR_TYPE;ALL_PMIDS=9915949;ORIGIN=germline;XREFS=MedGen:C4016364 6 49612534 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13065;RCV=RCV000013940;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Rh-null_hemolytic_anemia..regulator_type|RH-NULL_HEMOLYTIC_ANEMIA..REGULATOR_TYPE;ALL_PMIDS=9915949;ORIGIN=germline;XREFS=MedGen:C4016364 6 52424111 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2067;RCV=RCV000002148;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=Benign|Likely_benign|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Myoclonic_epilepsy..juvenile_1|MYOCLONIC_EPILEPSY..JUVENILE..SUSCEPTIBILITY_TO..1;ALL_PMIDS=12439895..15258581;ORIGIN=germline 6 52452776 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2067;RCV=RCV000002148;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=Benign|Likely_benign|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Myoclonic_epilepsy..juvenile_1|MYOCLONIC_EPILEPSY..JUVENILE..SUSCEPTIBILITY_TO..1;ALL_PMIDS=12439895..15258581;ORIGIN=germline -6 129098299 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216956;RCV=RCV000200517;ALLELE_ID=213563;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.523G>T;HGVS_P=NP_000417.2:p.Glu175Ter;MOLECULAR_CONSEQUENCE=NM_000426.3:c.523G>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..22420014..25326637..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|Genetic_Testing_Registry_(GTR):GTR000334601|Genetic_Testing_Registry_(GTR):GTR000502396|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000508586|Genetic_Testing_Registry_(GTR):GTR000512397|Genetic_Testing_Registry_(GTR):GTR000514604|Genetic_Testing_Registry_(GTR):GTR000518953|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008 -6 129252243 . AAG A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216956;RCV=RCV000200517;ALLELE_ID=46904;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.2049_2050delAG;HGVS_P=NP_000417.2:p.Arg683Serfs;MOLECULAR_CONSEQUENCE=NM_000426.3:c.2049_2050delAG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic|Uncertain_significance;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..22420014..25326637..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|Genetic_Testing_Registry_(GTR):GTR000334601|Genetic_Testing_Registry_(GTR):GTR000502396|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000508586|Genetic_Testing_Registry_(GTR):GTR000512397|Genetic_Testing_Registry_(GTR):GTR000514604|Genetic_Testing_Registry_(GTR):GTR000518953|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008 6 129280071 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190218;RCV=RCV000170437;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..22420014..22675738;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|Genetic_Testing_Registry_(GTR):GTR000334601|Genetic_Testing_Registry_(GTR):GTR000502396|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000508586|Genetic_Testing_Registry_(GTR):GTR000512397|Genetic_Testing_Registry_(GTR):GTR000514604|Genetic_Testing_Registry_(GTR):GTR000518953|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008 -6 129481381 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224661;RCV=RCV000228823;ALLELE_ID=29333;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.7691T>C;HGVS_P=NP_000417.2:p.Leu2564Pro;MOLECULAR_CONSEQUENCE=NM_000426.3:c.7691T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..22420014..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|Genetic_Testing_Registry_(GTR):GTR000334601|Genetic_Testing_Registry_(GTR):GTR000502396|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000508586|Genetic_Testing_Registry_(GTR):GTR000512397|Genetic_Testing_Registry_(GTR):GTR000514604|Genetic_Testing_Registry_(GTR):GTR000518953|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008 6 129502696 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190218;RCV=RCV000170437;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..22420014..22675738;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|Genetic_Testing_Registry_(GTR):GTR000334601|Genetic_Testing_Registry_(GTR):GTR000502396|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000508586|Genetic_Testing_Registry_(GTR):GTR000512397|Genetic_Testing_Registry_(GTR):GTR000514604|Genetic_Testing_Registry_(GTR):GTR000518953|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008 -6 129516231 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224661;RCV=RCV000228823;ALLELE_ID=29330;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.9253C>T;HGVS_P=NP_000417.2:p.Arg3085Ter;MOLECULAR_CONSEQUENCE=NM_000426.3:c.9253C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468..21078917..22420014..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|Genetic_Testing_Registry_(GTR):GTR000334601|Genetic_Testing_Registry_(GTR):GTR000502396|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000508586|Genetic_Testing_Registry_(GTR):GTR000512397|Genetic_Testing_Registry_(GTR):GTR000514604|Genetic_Testing_Registry_(GTR):GTR000518953|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008 -6 135318577 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216887;RCV=RCV000200234;ALLELE_ID=101653;SYMBOL=AHI1;HGVS_C=NM_017651.4:c.3368C>T;HGVS_P=NP_060121.3:p.Ser1123Phe;MOLECULAR_CONSEQUENCE=NM_001134831.1:c.3368C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Joubert_syndrome_3|Joubert_syndrome_3;ALL_PMIDS=20301500..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1325|Genetic_Alliance:Joubert+syndrome+3/3920|Genetic_Testing_Registry_(GTR):GTR000500621|Genetic_Testing_Registry_(GTR):GTR000512667|Genetic_Testing_Registry_(GTR):GTR000521226|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000552165|Genetic_Testing_Registry_(GTR):GTR000552175|MedGen:C1837713|OMIM:608629|Office_of_Rare_Diseases:10168|Orphanet:220493 -6 135428691 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216887;RCV=RCV000200234;ALLELE_ID=213564;SYMBOL=AHI1;HGVS_C=NM_017651.4:c.2561G>T;HGVS_P=NP_060121.3:p.Cys854Phe;MOLECULAR_CONSEQUENCE=NM_001134831.1:c.2561G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Joubert_syndrome_3|Joubert_syndrome_3;ALL_PMIDS=20301500..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1325|Genetic_Alliance:Joubert+syndrome+3/3920|Genetic_Testing_Registry_(GTR):GTR000500621|Genetic_Testing_Registry_(GTR):GTR000512667|Genetic_Testing_Registry_(GTR):GTR000521226|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000552165|Genetic_Testing_Registry_(GTR):GTR000552175|MedGen:C1837713|OMIM:608629|Office_of_Rare_Diseases:10168|Orphanet:220493 -6 151430154 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=161981;RCV=RCV000149406;ALLELE_ID=171703;SYMBOL=RMND1;HGVS_C=NM_017909.3:c.713A>G;HGVS_P=NP_060379.2:p.Asn238Ser;MOLECULAR_CONSEQUENCE=NM_017909.3:c.713A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Department_of_Human_Genetics..McGill_University;ALL_TRAITS=Combined_oxidative_phosphorylation_deficiency_11|Combined_oxidative_phosphorylation_deficiency_11;ALL_PMIDS=27412952;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3554067|OMIM:614922|Orphanet:324535 -6 151436446 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=161981;RCV=RCV000149406;ALLELE_ID=171704;SYMBOL=RMND1;HGVS_C=NM_017909.3:c.613G>T;HGVS_P=NP_060379.2:p.Asp205Tyr;MOLECULAR_CONSEQUENCE=NM_017909.3:c.613G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Department_of_Human_Genetics..McGill_University;ALL_TRAITS=Combined_oxidative_phosphorylation_deficiency_11|Combined_oxidative_phosphorylation_deficiency_11;ALL_PMIDS=27412952;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3554067|OMIM:614922|Orphanet:324535 -6 152236240 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217010;RCV=RCV000200158;ALLELE_ID=213565;SYMBOL=SYNE1;HGVS_C=NM_182961.3:c.20263C>T;HGVS_P=NP_892006.3:p.Arg6755Ter;MOLECULAR_CONSEQUENCE=NM_033071.3:c.20050C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spinocerebellar_ataxia..autosomal_recessive_8|Spinocerebellar_ataxia..autosomal_recessive_8;ALL_PMIDS=20301553..25326637;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1379|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+8/9341|MedGen:C1853116|OMIM:610743|Orphanet:88644 -6 152369497 . T A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217009;RCV=RCV000197641;ALLELE_ID=213566;SYMBOL=SYNE1;HGVS_C=NM_033071.3:c.9646A>T;HGVS_P=NP_149062.1:p.Lys3216Ter;MOLECULAR_CONSEQUENCE=NM_033071.3:c.9646A>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spinocerebellar_ataxia..autosomal_recessive_8|Spinocerebellar_ataxia..autosomal_recessive_8;ALL_PMIDS=20301553..25326637;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1379|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+8/9341|MedGen:C1853116|OMIM:610743|Orphanet:88644 6 152376443 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=92124;RCV=RCV000077790;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 -6 152391364 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217010;RCV=RCV000200158;ALLELE_ID=213567;SYMBOL=SYNE1;HGVS_C=NM_033071.3:c.7938G>A;HGVS_P=NP_149062.1:p.Trp2646Ter;MOLECULAR_CONSEQUENCE=NM_033071.3:c.7938G>A:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spinocerebellar_ataxia..autosomal_recessive_8|Spinocerebellar_ataxia..autosomal_recessive_8;ALL_PMIDS=20301553..25326637;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1379|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+8/9341|MedGen:C1853116|OMIM:610743|Orphanet:88644 -6 152433794 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217009;RCV=RCV000197641;ALLELE_ID=213568;SYMBOL=SYNE1;HGVS_C=NM_033071.3:c.4482+1G>T;MOLECULAR_CONSEQUENCE=NM_033071.3:c.4482+1G>T:splice_donor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spinocerebellar_ataxia..autosomal_recessive_8|Spinocerebellar_ataxia..autosomal_recessive_8;ALL_PMIDS=20301553..25326637;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1379|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+8/9341|MedGen:C1853116|OMIM:610743|Orphanet:88644 6 152463486 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=92124;RCV=RCV000077790;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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 7 76054872 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=267189;RCV=RCV000408947;ALLELE_ID=262040;SYMBOL=MDH2;HGVS_C=NM_005918.3:c.109G>A;HGVS_P=NP_005909.2:p.Gly37Arg;MOLECULAR_CONSEQUENCE=NM_001282404.1:c.-86-2538G>A:intron_variant|NM_005918.3:c.109G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Genetics_of_Mitochondrial_Disorders..HelmholtzZentrum_Munchen;ALL_TRAITS=Infantile_encephalopathy|Infantile_encephalopathy;ALL_PMIDS=27989324;ORIGIN=not_applicable;XREFS=MedGen:CN238762 7 76058047 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=267189;RCV=RCV000408947;ALLELE_ID=260444;SYMBOL=MDH2;HGVS_C=NM_005918.3:c.398C>T;HGVS_P=NP_005909.2:p.Pro133Leu;MOLECULAR_CONSEQUENCE=NM_005918.3:c.398C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Genetics_of_Mitochondrial_Disorders..HelmholtzZentrum_Munchen;ALL_TRAITS=Infantile_encephalopathy|Infantile_encephalopathy;ALL_PMIDS=27989324;ORIGIN=not_applicable;XREFS=MedGen:CN238762 7 87443683 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217883;RCV=RCV000201938;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Progressive_familial_intrahepatic_cholestasis_3;ALL_PMIDS=17726488..9419367;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351|Genetic_Testing_Registry_(GTR):GTR000500352|Genetic_Testing_Registry_(GTR):GTR000506478|Genetic_Testing_Registry_(GTR):GTR000512463|Genetic_Testing_Registry_(GTR):GTR000514610|Genetic_Testing_Registry_(GTR):GTR000552156|Genetic_Testing_Registry_(GTR):GTR000552234|Genetic_Testing_Registry_(GTR):GTR000552355|Genetics_Home_Reference:progressive-familial-intrahepatic-cholestasis|MedGen:C1865643|OMIM:602347|Office_of_Rare_Diseases:1289|Orphanet:79305 7 87453049 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217883;RCV=RCV000201938;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Progressive_familial_intrahepatic_cholestasis_3;ALL_PMIDS=17726488..9419367;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351|Genetic_Testing_Registry_(GTR):GTR000500352|Genetic_Testing_Registry_(GTR):GTR000506478|Genetic_Testing_Registry_(GTR):GTR000512463|Genetic_Testing_Registry_(GTR):GTR000514610|Genetic_Testing_Registry_(GTR):GTR000552156|Genetic_Testing_Registry_(GTR):GTR000552234|Genetic_Testing_Registry_(GTR):GTR000552355|Genetics_Home_Reference:progressive-familial-intrahepatic-cholestasis|MedGen:C1865643|OMIM:602347|Office_of_Rare_Diseases:1289|Orphanet:79305 -7 97852297 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208919;RCV=RCV000201411;ALLELE_ID=97318;SYMBOL=ASNS;HGVS_C=NM_183356.3:c.1648C>T;HGVS_P=NP_899199.2:p.Arg550Cys;MOLECULAR_CONSEQUENCE=NM_183356.3:c.1648C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -7 97853097 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208919;RCV=RCV000201411;ALLELE_ID=205458;SYMBOL=ASNS;HGVS_C=NM_183356.3:c.1439C>T;HGVS_P=NP_899199.2:p.Ser480Phe;MOLECULAR_CONSEQUENCE=NM_183356.3:c.1439C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -7 103491969 . A C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208940;RCV=RCV000201320;ALLELE_ID=205454;SYMBOL=RELN;HGVS_C=NM_005045.3:c.9427T>G;HGVS_P=NP_005036.2:p.Tyr3143Asp;MOLECULAR_CONSEQUENCE=NM_005045.3:c.9427T>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -7 103636325 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208940;RCV=RCV000201320;ALLELE_ID=205455;SYMBOL=RELN;HGVS_C=NM_005045.3:c.2213G>A;HGVS_P=NP_005036.2:p.Cys738Tyr;MOLECULAR_CONSEQUENCE=NM_005045.3:c.2213G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -7 107672182 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236064;RCV=RCV000225014;ALLELE_ID=52724;SYMBOL=SLC26A4;HGVS_C=NM_000441.1:c.349C>T;HGVS_P=NP_000432.1:p.Leu117Phe;MOLECULAR_CONSEQUENCE=NM_000441.1:c.349C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic|Uncertain_significance;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome;ALL_PMIDS=20301607..20301640;AGE_OF_ONSET=Infancy;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 -7 107674326 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236064;RCV=RCV000225014;ALLELE_ID=19869;SYMBOL=SLC26A4;HGVS_C=NM_000441.1:c.578C>T;HGVS_P=NP_000432.1:p.Thr193Ile;MOLECULAR_CONSEQUENCE=NM_000441.1:c.578C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome;ALL_PMIDS=20301607..20301640;AGE_OF_ONSET=Infancy;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 7 107695963 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4816;RCV=RCV000005085;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome|DEAFNESS..AUTOSOMAL_RECESSIVE_4..WITH_ENLARGED_VESTIBULAR_AQUEDUCT;ALL_PMIDS=18310264..20301607..20301640..9500541;AGE_OF_ONSET=Infancy;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 7 107695984 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=4816;RCV=RCV000005085;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=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome|DEAFNESS..AUTOSOMAL_RECESSIVE_4..WITH_ENLARGED_VESTIBULAR_AQUEDUCT;ALL_PMIDS=18310264..20301607..20301640..9500541;AGE_OF_ONSET=Infancy;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 7 117530975 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=209047;RCV=RCV000190992;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|drug_response;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=practice_guideline;GOLD_STARS=4;ALL_SUBMITTERS=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..9580754;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1_in_2000-4000_depending_on_the_population_studied.|1-9_/_100_000|1:3200;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):GTR000061757|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):GTR000321636|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000327577|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000500100|Genetic_Testing_Registry_(GTR):GTR000500101|Genetic_Testing_Registry_(GTR):GTR000500102|Genetic_Testing_Registry_(GTR):GTR000500302|Genetic_Testing_Registry_(GTR):GTR000500303|Genetic_Testing_Registry_(GTR):GTR000500978|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):GTR000503389|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):GTR000552033|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008 @@ -389,23 +265,11 @@ 7 128830955 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=265766;RCV=RCV000256190;ALLELE_ID=260440;SYMBOL=FLNC;HGVS_C=NM_001458.4:c.318C>G;HGVS_P=NP_001449.3:p.Phe106Leu;MOLECULAR_CONSEQUENCE=NM_001458.4:c.318C>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=emedgene_Technologies;ALL_TRAITS=Primary_dilated_cardiomyopathy;ALL_PMIDS=16839424..20301486..21810866;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1309|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000500470|Genetic_Testing_Registry_(GTR):GTR000500686|Genetic_Testing_Registry_(GTR):GTR000502612|Genetic_Testing_Registry_(GTR):GTR000506437|Genetic_Testing_Registry_(GTR):GTR000509953|Genetic_Testing_Registry_(GTR):GTR000509954|Genetic_Testing_Registry_(GTR):GTR000511228|Genetic_Testing_Registry_(GTR):GTR000511230|Genetic_Testing_Registry_(GTR):GTR000511279|Genetic_Testing_Registry_(GTR):GTR000511446|Genetic_Testing_Registry_(GTR):GTR000519311|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):GTR000521335|Genetic_Testing_Registry_(GTR):GTR000522257|Genetic_Testing_Registry_(GTR):GTR000523333|Genetic_Testing_Registry_(GTR):GTR000523356|Genetic_Testing_Registry_(GTR):GTR000523362|Genetic_Testing_Registry_(GTR):GTR000523363|Genetic_Testing_Registry_(GTR):GTR000528349|Genetic_Testing_Registry_(GTR):GTR000528433|Genetic_Testing_Registry_(GTR):GTR000528434|Genetic_Testing_Registry_(GTR):GTR000528435|Genetic_Testing_Registry_(GTR):GTR000528436|Genetic_Testing_Registry_(GTR):GTR000528437|Genetic_Testing_Registry_(GTR):GTR000528463|Genetic_Testing_Registry_(GTR):GTR000528464|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528521|Genetic_Testing_Registry_(GTR):GTR000528907|Genetic_Testing_Registry_(GTR):GTR000529018|Genetic_Testing_Registry_(GTR):GTR000551902|Genetic_Testing_Registry_(GTR):GTR000551905|Genetic_Testing_Registry_(GTR):GTR000551928|Genetic_Testing_Registry_(GTR):GTR000552058|Genetic_Testing_Registry_(GTR):GTR000552059|Genetic_Testing_Registry_(GTR):GTR000552574|Human_Phenotype_Ontology:HP:0001644|MedGen:C0007193|Office_of_Rare_Diseases:221|SNOMED_CT:195021004 7 128844045 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=265766;RCV=RCV000256190;ALLELE_ID=260441;SYMBOL=FLNC;HGVS_C=NM_001458.4:c.2971C>T;HGVS_P=NP_001449.3:p.Arg991Ter;MOLECULAR_CONSEQUENCE=NM_001458.4:c.2971C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=emedgene_Technologies;ALL_TRAITS=Primary_dilated_cardiomyopathy;ALL_PMIDS=16839424..20301486..21810866;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK1309|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000500470|Genetic_Testing_Registry_(GTR):GTR000500686|Genetic_Testing_Registry_(GTR):GTR000502612|Genetic_Testing_Registry_(GTR):GTR000506437|Genetic_Testing_Registry_(GTR):GTR000509953|Genetic_Testing_Registry_(GTR):GTR000509954|Genetic_Testing_Registry_(GTR):GTR000511228|Genetic_Testing_Registry_(GTR):GTR000511230|Genetic_Testing_Registry_(GTR):GTR000511279|Genetic_Testing_Registry_(GTR):GTR000511446|Genetic_Testing_Registry_(GTR):GTR000519311|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):GTR000521335|Genetic_Testing_Registry_(GTR):GTR000522257|Genetic_Testing_Registry_(GTR):GTR000523333|Genetic_Testing_Registry_(GTR):GTR000523356|Genetic_Testing_Registry_(GTR):GTR000523362|Genetic_Testing_Registry_(GTR):GTR000523363|Genetic_Testing_Registry_(GTR):GTR000528349|Genetic_Testing_Registry_(GTR):GTR000528433|Genetic_Testing_Registry_(GTR):GTR000528434|Genetic_Testing_Registry_(GTR):GTR000528435|Genetic_Testing_Registry_(GTR):GTR000528436|Genetic_Testing_Registry_(GTR):GTR000528437|Genetic_Testing_Registry_(GTR):GTR000528463|Genetic_Testing_Registry_(GTR):GTR000528464|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528521|Genetic_Testing_Registry_(GTR):GTR000528907|Genetic_Testing_Registry_(GTR):GTR000529018|Genetic_Testing_Registry_(GTR):GTR000551902|Genetic_Testing_Registry_(GTR):GTR000551905|Genetic_Testing_Registry_(GTR):GTR000551928|Genetic_Testing_Registry_(GTR):GTR000552058|Genetic_Testing_Registry_(GTR):GTR000552059|Genetic_Testing_Registry_(GTR):GTR000552574|Human_Phenotype_Ontology:HP:0001644|MedGen:C0007193|Office_of_Rare_Diseases:221|SNOMED_CT:195021004 8 1771262 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217887;RCV=RCV000201947;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=16570191..20301601;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264 -8 1771266 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216905;RCV=RCV000197221;ALLELE_ID=213579;SYMBOL=CLN8;HGVS_C=NM_018941.3:c.212C>T;HGVS_P=NP_061764.2:p.Ala71Val;MOLECULAR_CONSEQUENCE=NM_018941.3:c.212C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8|Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=20301601..22220808..25326637;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264 -8 1780264 . GTC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216905;RCV=RCV000197221;ALLELE_ID=71352;SYMBOL=CLN8;HGVS_C=NM_018941.3:c.562_563delCT;HGVS_P=NP_061764.2:p.Leu188Valfs;MOLECULAR_CONSEQUENCE=NM_018941.3:c.562_563delCT:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8|Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=20301601..22220808..25326637;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264 8 1780498 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217887;RCV=RCV000201947;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=16570191..20301601;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264 8 31064934 . A T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=5453;RCV=RCV000005786;ALLELE_ID=20492;SYMBOL=WRN;HGVS_C=NM_000553.4:c.375A>T;HGVS_P=NP_000544.2:p.Lys125Asn;MOLECULAR_CONSEQUENCE=NM_000553.4:c.375A>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Werner_syndrome|WERNER_SYNDROME;ALL_PMIDS=16673358..20301687..22258520;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_1_000_000;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 8 31064962 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=5453;RCV=RCV000005786;ALLELE_ID=38386;SYMBOL=WRN;HGVS_C=NM_000553.4:c.403A>G;HGVS_P=NP_000544.2:p.Lys135Glu;MOLECULAR_CONSEQUENCE=NM_000553.4:c.403A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Werner_syndrome|WERNER_SYNDROME;ALL_PMIDS=16673358..20301687..22258520;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_1_000_000;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 8 38414166 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16292;RCV=RCV000030930;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Kallmann_syndrome_2|HYPOGONADOTROPIC_HYPOGONADISM_2_WITHOUT_ANOSMIA..SUSCEPTIBILITY_TO;ALL_PMIDS=16606836..20301509..21682876;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000|1:30..000_in_males_and_1:125..000_in_females;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Department_of_Endocrinology..Seth_G.S._Medical_College_and_K.E.M._Hospital: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|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 8 38414173 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16292;RCV=RCV000030930;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Kallmann_syndrome_2|HYPOGONADOTROPIC_HYPOGONADISM_2_WITHOUT_ANOSMIA..SUSCEPTIBILITY_TO;ALL_PMIDS=16606836..20301509..21682876;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000|1:30..000_in_males_and_1:125..000_in_females;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Department_of_Endocrinology..Seth_G.S._Medical_College_and_K.E.M._Hospital: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|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 -8 74350522 . GA G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216933;RCV=RCV000196703;ALLELE_ID=213581;SYMBOL=GDAP1;HGVS_C=NM_018972.2:c.62delA;HGVS_P=NP_061845.2:p.Asp21Alafs;MOLECULAR_CONSEQUENCE=NM_001040875.2:c.-64+51delA:intron_variant|NM_018972.2:c.62delA:frameshift_variant|NR_046346.1:n.141delA:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2K|Charcot-Marie-Tooth_disease..type_4A|Charcot-Marie-Tooth_disease..axonal..with_vocal_cord_paresis..autosomal_recessive|Charcot-Marie-Tooth_disease..recessive_intermediate_A|Charcot-Marie-Tooth_disease_type_2K|Charcot-Marie-Tooth_disease..axonal..with_vocal_cord_paresis..autosomal_recessive|Charcot-Marie-Tooth_disease..recessive_intermediate_A|Charcot-Marie-Tooth_disease..type_4A;ALL_PMIDS=20301462..20301641..20301711..25326637;INHERITANCE_MODES=Autosomal_dominant_inheritance|Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood|Infancy;PREVALENCE=<1_/_1_000_000|Currently..CMT4A_is_considered_the_most_frequent_of_all_autosomal_recessive_forms_of_CMT.____Molecular_genetic_testing_has_shown_that_the_following_proportion_of_individuals_with_CMT_have_two_disease-causing_GDAP1_alleles:____1%_-_15%_individuals_depending_on_the_studied_population|The_overall_prevalence_of_hereditary_neuropathies_is_estimated_at_approximately_3:10..000_population._About_30%_of_these_individuals_(1:10..000)_may_have_CMT2._The_prevalence_of_the_various_subtypes_of_CMT2_is_unknown;ORIGIN=unknown;XREFS=GeneReviews:NBK1285|GeneReviews:NBK1539|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2K/1302|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+4A/1303|Genetic_Alliance:Charcot-Marie-Tooth+disease%2C+axonal%2C+with+vocal+cord+paresis%2C+autosomal+recessive/7952|Genetic_Alliance:Charcot-Marie-Tooth+disease%2C+recessive+intermediate+A/7955|Genetic_Testing_Registry_(GTR):GTR000332467|Genetic_Testing_Registry_(GTR):GTR000509967|Genetic_Testing_Registry_(GTR):GTR000512498|Genetic_Testing_Registry_(GTR):GTR000514928|Genetic_Testing_Registry_(GTR):GTR000520409|Genetic_Testing_Registry_(GTR):GTR000529452|Genetic_Testing_Registry_(GTR):GTR000552469|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C1842197|MedGen:C1842983|MedGen:C1843183|MedGen:C1859198|OMIM:214400|OMIM:606598.0009|OMIM:606598.0010|OMIM:606598.0012|OMIM:606598.0014|OMIM:606598.0015|OMIM:606598.0017|OMIM:606598.0018|OMIM:606598.0019|OMIM:607706|OMIM:607831|OMIM:608340|Office_of_Rare_Diseases:1252|Office_of_Rare_Diseases:9195|Office_of_Rare_Diseases:9199|Orphanet:101097|Orphanet:217055|Orphanet:99944|Orphanet:99948 -8 74360173 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216933;RCV=RCV000196703;ALLELE_ID=213582;SYMBOL=GDAP1;HGVS_C=NM_018972.2:c.347T>C;HGVS_P=NP_061845.2:p.Met116Thr;MOLECULAR_CONSEQUENCE=NM_018972.2:c.347T>C:missense_variant|NR_046346.1:n.281T>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2K|Charcot-Marie-Tooth_disease..type_4A|Charcot-Marie-Tooth_disease..axonal..with_vocal_cord_paresis..autosomal_recessive|Charcot-Marie-Tooth_disease..recessive_intermediate_A|Charcot-Marie-Tooth_disease_type_2K|Charcot-Marie-Tooth_disease..axonal..with_vocal_cord_paresis..autosomal_recessive|Charcot-Marie-Tooth_disease..recessive_intermediate_A|Charcot-Marie-Tooth_disease..type_4A;ALL_PMIDS=20301462..20301641..20301711..25326637;INHERITANCE_MODES=Autosomal_dominant_inheritance|Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood|Infancy;PREVALENCE=<1_/_1_000_000|Currently..CMT4A_is_considered_the_most_frequent_of_all_autosomal_recessive_forms_of_CMT.____Molecular_genetic_testing_has_shown_that_the_following_proportion_of_individuals_with_CMT_have_two_disease-causing_GDAP1_alleles:____1%_-_15%_individuals_depending_on_the_studied_population|The_overall_prevalence_of_hereditary_neuropathies_is_estimated_at_approximately_3:10..000_population._About_30%_of_these_individuals_(1:10..000)_may_have_CMT2._The_prevalence_of_the_various_subtypes_of_CMT2_is_unknown;ORIGIN=unknown;XREFS=GeneReviews:NBK1285|GeneReviews:NBK1539|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2K/1302|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+4A/1303|Genetic_Alliance:Charcot-Marie-Tooth+disease%2C+axonal%2C+with+vocal+cord+paresis%2C+autosomal+recessive/7952|Genetic_Alliance:Charcot-Marie-Tooth+disease%2C+recessive+intermediate+A/7955|Genetic_Testing_Registry_(GTR):GTR000332467|Genetic_Testing_Registry_(GTR):GTR000509967|Genetic_Testing_Registry_(GTR):GTR000512498|Genetic_Testing_Registry_(GTR):GTR000514928|Genetic_Testing_Registry_(GTR):GTR000520409|Genetic_Testing_Registry_(GTR):GTR000529452|Genetic_Testing_Registry_(GTR):GTR000552469|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C1842197|MedGen:C1842983|MedGen:C1843183|MedGen:C1859198|OMIM:214400|OMIM:606598.0009|OMIM:606598.0010|OMIM:606598.0012|OMIM:606598.0014|OMIM:606598.0015|OMIM:606598.0017|OMIM:606598.0018|OMIM:606598.0019|OMIM:607706|OMIM:607831|OMIM:608340|Office_of_Rare_Diseases:1252|Office_of_Rare_Diseases:9195|Office_of_Rare_Diseases:9199|Orphanet:101097|Orphanet:217055|Orphanet:99944|Orphanet:99948 -8 86632864 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216907;RCV=RCV000195502;ALLELE_ID=152872;SYMBOL=CNGB3;HGVS_C=NM_019098.4:c.1208G>A;HGVS_P=NP_061971.3:p.Arg403Gln;MOLECULAR_CONSEQUENCE=NM_019098.4:c.1208G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Stargardt_disease_1|Stargardt_disease_1;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 -8 86632879 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216907;RCV=RCV000195502;ALLELE_ID=213583;SYMBOL=CNGB3;HGVS_C=NM_019098.4:c.1193A>G;HGVS_P=NP_061971.3:p.Tyr398Cys;MOLECULAR_CONSEQUENCE=NM_019098.4:c.1193A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Stargardt_disease_1|Stargardt_disease_1;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetic_Testing_Registry_(GTR):GTR000518794|Genetic_Testing_Registry_(GTR):GTR000518797|Genetic_Testing_Registry_(GTR):GTR000518887|Genetic_Testing_Registry_(GTR):GTR000518888|Genetic_Testing_Registry_(GTR):GTR000520060|Genetic_Testing_Registry_(GTR):GTR000528277|Genetics_Home_Reference:stargardt-macular-degeneration|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827 -8 89958819 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190227;RCV=RCV000170446;ALLELE_ID=188057;SYMBOL=NBN;HGVS_C=NM_002485.4:c.1030C>T;HGVS_P=NP_002476.2:p.Gln344Ter;MOLECULAR_CONSEQUENCE=NM_002485.4:c.1030C>T:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Innovations_Lab..Hyderabad..Tata_Consultancy_Services_Ltd;ALL_TRAITS=Microcephaly..normal_intelligence_and_immunodeficiency|Microcephaly..normal_intelligence_and_immunodeficiency;ALL_PMIDS=20301355..25677497;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=paternal;XREFS=GeneReviews:NBK1176|Genetic_Alliance:Microcephaly+with+normal+intelligence%2C+immunodeficiency/4760|Genetic_Testing_Registry_(GTR):GTR000528277|Genetic_Testing_Registry_(GTR):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552183|MedGen:C0398791|OMIM:251260|Orphanet:647|SNOMED_CT:234638009 -8 89970418 . A C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190227;RCV=RCV000170446;ALLELE_ID=188058;SYMBOL=NBN;HGVS_C=NM_002485.4:c.842T>G;HGVS_P=NP_002476.2:p.Leu281Ter;MOLECULAR_CONSEQUENCE=NM_002485.4:c.842T>G:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Innovations_Lab..Hyderabad..Tata_Consultancy_Services_Ltd;ALL_TRAITS=Microcephaly..normal_intelligence_and_immunodeficiency|Microcephaly..normal_intelligence_and_immunodeficiency;ALL_PMIDS=20301355..25677497;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=paternal;XREFS=GeneReviews:NBK1176|Genetic_Alliance:Microcephaly+with+normal+intelligence%2C+immunodeficiency/4760|Genetic_Testing_Registry_(GTR):GTR000528277|Genetic_Testing_Registry_(GTR):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552183|MedGen:C0398791|OMIM:251260|Orphanet:647|SNOMED_CT:234638009 -8 99467549 . CT C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208933;RCV=RCV000201400;ALLELE_ID=205459;SYMBOL=VPS13B;HGVS_C=NM_152564.4:c.3582delT;HGVS_P=NP_689777.3:p.Thr1195Argfs;MOLECULAR_CONSEQUENCE=NM_017890.4:c.3582delT:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -8 99699772 . CAT C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208933;RCV=RCV000201400;ALLELE_ID=205460;SYMBOL=VPS13B;HGVS_C=NM_017890.4:c.6370_6371delAT;HGVS_P=NP_060360.3:p.Met2124Valfs;MOLECULAR_CONSEQUENCE=NM_017890.4:c.6370_6371delAT:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -8 102281379 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=207841;RCV=RCV000190134;ALLELE_ID=204120;SYMBOL=UBR5;HGVS_C=NM_015902.5:c.5837A>G;HGVS_P=NP_056986.2:p.His1946Arg;MOLECULAR_CONSEQUENCE=NM_015902.5:c.5837A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Long_QT_syndrome|Long_QT_syndrome;ALL_PMIDS=23994779..26132555;INHERITANCE_MODES=Autosomal_dominant_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Long+QT+Syndrome/4296|Genetic_Testing_Registry_(GTR):GTR000323823|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000500471|Genetic_Testing_Registry_(GTR):GTR000500681|Genetic_Testing_Registry_(GTR):GTR000501111|Genetic_Testing_Registry_(GTR):GTR000502615|Genetic_Testing_Registry_(GTR):GTR000511116|Genetic_Testing_Registry_(GTR):GTR000515873|Genetic_Testing_Registry_(GTR):GTR000519089|Genetic_Testing_Registry_(GTR):GTR000519267|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519380|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000519389|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520446|Genetic_Testing_Registry_(GTR):GTR000520456|Genetic_Testing_Registry_(GTR):GTR000520458|Genetic_Testing_Registry_(GTR):GTR000520478|Genetic_Testing_Registry_(GTR):GTR000522197|Genetic_Testing_Registry_(GTR):GTR000522200|Genetic_Testing_Registry_(GTR):GTR000522257|Genetic_Testing_Registry_(GTR):GTR000528336|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000552174|Genetic_Testing_Registry_(GTR):GTR000552322|MeSH:D008133|MedGen:C0023976|OMIM:PS192500|SNOMED_CT:9651007 -8 102295696 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=207841;RCV=RCV000190134;ALLELE_ID=204121;SYMBOL=UBR5;HGVS_C=NM_015902.5:c.3752G>A;HGVS_P=NP_056986.2:p.Arg1251His;MOLECULAR_CONSEQUENCE=NM_015902.5:c.3752G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Long_QT_syndrome|Long_QT_syndrome;ALL_PMIDS=23994779..26132555;INHERITANCE_MODES=Autosomal_dominant_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Long+QT+Syndrome/4296|Genetic_Testing_Registry_(GTR):GTR000323823|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000500471|Genetic_Testing_Registry_(GTR):GTR000500681|Genetic_Testing_Registry_(GTR):GTR000501111|Genetic_Testing_Registry_(GTR):GTR000502615|Genetic_Testing_Registry_(GTR):GTR000511116|Genetic_Testing_Registry_(GTR):GTR000515873|Genetic_Testing_Registry_(GTR):GTR000519089|Genetic_Testing_Registry_(GTR):GTR000519267|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519380|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000519389|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520446|Genetic_Testing_Registry_(GTR):GTR000520456|Genetic_Testing_Registry_(GTR):GTR000520458|Genetic_Testing_Registry_(GTR):GTR000520478|Genetic_Testing_Registry_(GTR):GTR000522197|Genetic_Testing_Registry_(GTR):GTR000522200|Genetic_Testing_Registry_(GTR):GTR000522257|Genetic_Testing_Registry_(GTR):GTR000528336|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000552174|Genetic_Testing_Registry_(GTR):GTR000552322|MeSH:D008133|MedGen:C0023976|OMIM:PS192500|SNOMED_CT:9651007 8 142912850 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16876|16877;RCV=RCV000018372|RCV000018373;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;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 8 142915047 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16877;RCV=RCV000018373;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_1_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_I_DEFICIENCY;ALL_PMIDS=9814506;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;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 8 142915100 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16876;RCV=RCV000018372;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_2_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_II_DEFICIENCY;ALL_PMIDS=1346492..1594605..3262827..4121586..830445..838841;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;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 @@ -416,22 +280,10 @@ 9 34649445 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=140570|3620;RCV=RCV000128642|RCV000003804;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=Benign|Likely_benign|Pathogenic|other;PATHOGENIC=1;BENIGN=1;CONFLICTED=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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|10408771..10424825..19224951..2011574..4759900..8522334..9012409;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1518|Genetic_Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206|Genetic_Testing_Registry_(GTR):GTR000502919|Genetic_Testing_Registry_(GTR):GTR000503048|Genetic_Testing_Registry_(GTR):GTR000503054|Genetic_Testing_Registry_(GTR):GTR000507573|Genetic_Testing_Registry_(GTR):GTR000509820|Genetic_Testing_Registry_(GTR):GTR000514614|Genetic_Testing_Registry_(GTR):GTR000529378|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0268151|OMIM:230400|Office_of_Rare_Diseases:2424|Orphanet:352|Orphanet:79239|SNOMED_CT:124354006|OMIM:606999.0012 9 37424830 . TCC T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=204246;RCV=RCV000186453;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_II|Primary_hyperoxaluria..type_II;ALL_PMIDS=14635115..20301742;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=<1_/_1_000_000|unknown..<1_per_million;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):GTR000328129|Genetic_Testing_Registry_(GTR):GTR000507682|Genetic_Testing_Registry_(GTR):GTR000522211|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0268165|OMIM:260000|Office_of_Rare_Diseases:2836|Orphanet:416|Orphanet:93599|SNOMED_CT:40951006 9 37424836 . TCCCC T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=204246;RCV=RCV000186453;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_II|Primary_hyperoxaluria..type_II;ALL_PMIDS=14635115..20301742;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=<1_/_1_000_000|unknown..<1_per_million;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):GTR000328129|Genetic_Testing_Registry_(GTR):GTR000507682|Genetic_Testing_Registry_(GTR):GTR000522211|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0268165|OMIM:260000|Office_of_Rare_Diseases:2836|Orphanet:416|Orphanet:93599|SNOMED_CT:40951006 -9 72754817 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236043;RCV=RCV000225031;ALLELE_ID=57040;SYMBOL=TMC1;HGVS_C=NM_138691.2:c.674C>T;HGVS_P=NP_619636.2:p.Pro225Leu;MOLECULAR_CONSEQUENCE=NM_138691.2:c.674C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_7;ALL_PMIDS=18616530..19187973..20301607..21917145;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+7/8184|MedGen:C1832978|OMIM:600974|Orphanet:90636 -9 72789258 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236056;RCV=RCV000225055;ALLELE_ID=57020;SYMBOL=TMC1;HGVS_C=NM_138691.2:c.1165C>T;HGVS_P=NP_619636.2:p.Arg389Ter;MOLECULAR_CONSEQUENCE=NM_138691.2:c.1165C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_7;ALL_PMIDS=20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+7/8184|MedGen:C1832978|OMIM:600974|Orphanet:90636 -9 72789303 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236057;RCV=RCV000225096;ALLELE_ID=237606;SYMBOL=TMC1;HGVS_C=NM_138691.2:c.1210T>C;HGVS_P=NP_619636.2:p.Trp404Arg;MOLECULAR_CONSEQUENCE=NM_138691.2:c.1210T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_7;ALL_PMIDS=20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+7/8184|MedGen:C1832978|OMIM:600974|Orphanet:90636 -9 72820888 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236043|236055;RCV=RCV000225031|RCV000225097;ALLELE_ID=237607;SYMBOL=TMC1;HGVS_C=NM_138691.2:c.1810C>T;HGVS_P=NP_619636.2:p.Arg604Ter;MOLECULAR_CONSEQUENCE=NM_138691.2:c.1810C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_7;ALL_PMIDS=18616530..19187973..20301607..21917145|20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+7/8184|MedGen:C1832978|OMIM:600974|Orphanet:90636 -9 72821017 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236055|236056|236057;RCV=RCV000225097|RCV000225055|RCV000225096;ALLELE_ID=229709;SYMBOL=TMC1;HGVS_C=NM_138691.2:c.1939T>C;HGVS_P=NP_619636.2:p.Ser647Pro;MOLECULAR_CONSEQUENCE=NM_138691.2:c.1939T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_7;ALL_PMIDS=20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+7/8184|MedGen:C1832978|OMIM:600974|Orphanet:90636 -9 96254906 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216940;RCV=RCV000198988;ALLELE_ID=19913;SYMBOL=HSD17B3-AS1;HGVS_C=NM_000197.1:c.239G>A;HGVS_P=NP_000188.1:p.Arg80Gln;MOLECULAR_CONSEQUENCE=NM_000197.1:c.239G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Testosterone_17-beta-dehydrogenase_deficiency|Testosterone_17-beta-dehydrogenase_deficiency;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_1_000_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=Genetic_Alliance:17-Ketosteroid+Reductase+Deficiency/8|Genetic_Testing_Registry_(GTR):GTR000500406|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000515567|Genetic_Testing_Registry_(GTR):GTR000519103|Genetic_Testing_Registry_(GTR):GTR000519120|Genetic_Testing_Registry_(GTR):GTR000522527|Genetics_Home_Reference:17-beta-hydroxysteroid-dehydrogenase-3-deficiency|MedGen:C0268296|OMIM:264300|Orphanet:752|SNOMED_CT:50658006 -9 96298423 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216940;RCV=RCV000198988;ALLELE_ID=213594;SYMBOL=HSD17B3;HGVS_C=NM_000197.1:c.194C>T;HGVS_P=NP_000188.1:p.Ser65Leu;MOLECULAR_CONSEQUENCE=NM_000197.1:c.194C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Testosterone_17-beta-dehydrogenase_deficiency|Testosterone_17-beta-dehydrogenase_deficiency;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_1_000_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=Genetic_Alliance:17-Ketosteroid+Reductase+Deficiency/8|Genetic_Testing_Registry_(GTR):GTR000500406|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000515567|Genetic_Testing_Registry_(GTR):GTR000519103|Genetic_Testing_Registry_(GTR):GTR000519120|Genetic_Testing_Registry_(GTR):GTR000522527|Genetics_Home_Reference:17-beta-hydroxysteroid-dehydrogenase-3-deficiency|MedGen:C0268296|OMIM:264300|Orphanet:752|SNOMED_CT:50658006 9 98578034 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3331;RCV=RCV000003495;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 -9 120439426 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190420;RCV=RCV000170544;ALLELE_ID=188243;SYMBOL=CDK5RAP2;HGVS_C=NM_018249.5:c.3695A>G;HGVS_P=NP_060719.4:p.Asn1232Ser;MOLECULAR_CONSEQUENCE=NM_018249.5:c.3695A>G:missense_variant|NR_073554.1:n.3964A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Dr._Guy_Rouleau's_laboratory..McGill_University;ALL_TRAITS=Corpus_callosum_agenesis|Corpus_callosum_agenesis;ALL_PMIDS=26197979;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Agenesis+of+the+Corpus+Callosum/263|Genetic_Testing_Registry_(GTR):GTR000331025|Genetic_Testing_Registry_(GTR):GTR000512629|Genetic_Testing_Registry_(GTR):GTR000520970|MedGen:C0175754|OMIM:217990|Office_of_Rare_Diseases:1535|Orphanet:200|Orphanet:ORPHA200 -9 120550818 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190420;RCV=RCV000170544;ALLELE_ID=188244;SYMBOL=CDK5RAP2;HGVS_C=NM_018249.5:c.280G>C;HGVS_P=NP_060719.4:p.Gly94Arg;MOLECULAR_CONSEQUENCE=NM_018249.5:c.280G>C:missense_variant|NR_073554.1:n.472G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Dr._Guy_Rouleau's_laboratory..McGill_University;ALL_TRAITS=Corpus_callosum_agenesis|Corpus_callosum_agenesis;ALL_PMIDS=26197979;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Agenesis+of+the+Corpus+Callosum/263|Genetic_Testing_Registry_(GTR):GTR000331025|Genetic_Testing_Registry_(GTR):GTR000512629|Genetic_Testing_Registry_(GTR):GTR000520970|MedGen:C0175754|OMIM:217990|Office_of_Rare_Diseases:1535|Orphanet:200|Orphanet:ORPHA200 9 124500574 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12809;RCV=RCV000013657|RCV000022775;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 9 124500592 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12809;RCV=RCV000013657|RCV000022775;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 -9 130458549 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=265959;RCV=RCV000256315;ALLELE_ID=21373;SYMBOL=ASS1;HGVS_C=NM_000050.4:c.323G>T;HGVS_P=NP_000041.2:p.Arg108Leu;MOLECULAR_CONSEQUENCE=NM_000050.4:c.323G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Citrullinemia_type_I;ALL_PMIDS=11941481..20301631;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1458|Genetic_Alliance:Citrullinemia+Type+I/1651|Genetic_Testing_Registry_(GTR):GTR000271419|Genetic_Testing_Registry_(GTR):GTR000500613|Genetic_Testing_Registry_(GTR):GTR000500614|Genetic_Testing_Registry_(GTR):GTR000500956|Genetic_Testing_Registry_(GTR):GTR000502091|Genetic_Testing_Registry_(GTR):GTR000503033|Genetic_Testing_Registry_(GTR):GTR000503035|Genetic_Testing_Registry_(GTR):GTR000506270|Genetic_Testing_Registry_(GTR):GTR000506480|Genetic_Testing_Registry_(GTR):GTR000521378|Genetic_Testing_Registry_(GTR):GTR000521920|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000551439|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0175683|OMIM:215700|Office_of_Rare_Diseases:6114|Orphanet:247525 -9 130489469 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=265959;RCV=RCV000256315;ALLELE_ID=260673;SYMBOL=ASS1;HGVS_C=NM_000050.4:c.970+5G>A;MOLECULAR_CONSEQUENCE=NM_000050.4:c.970+5G>A:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Citrullinemia_type_I;ALL_PMIDS=11941481..20301631;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1458|Genetic_Alliance:Citrullinemia+Type+I/1651|Genetic_Testing_Registry_(GTR):GTR000271419|Genetic_Testing_Registry_(GTR):GTR000500613|Genetic_Testing_Registry_(GTR):GTR000500614|Genetic_Testing_Registry_(GTR):GTR000500956|Genetic_Testing_Registry_(GTR):GTR000502091|Genetic_Testing_Registry_(GTR):GTR000503033|Genetic_Testing_Registry_(GTR):GTR000503035|Genetic_Testing_Registry_(GTR):GTR000506270|Genetic_Testing_Registry_(GTR):GTR000506480|Genetic_Testing_Registry_(GTR):GTR000521378|Genetic_Testing_Registry_(GTR):GTR000521920|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000551439|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0175683|OMIM:215700|Office_of_Rare_Diseases:6114|Orphanet:247525 -9 132271758 . CAA AT . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216997;RCV=RCV000200211;ALLELE_ID=213586;SYMBOL=SETX;HGVS_C=NM_015046.5:c.7149_7151delTTGinsAT;HGVS_P=NP_055861.3:p.Asp2383Glufs;MOLECULAR_CONSEQUENCE=NM_015046.5:c.7149_7151delTTGinsAT:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spinocerebellar_ataxia_autosomal_recessive_1|Spinocerebellar_ataxia_autosomal_recessive_1;ALL_PMIDS=20050888..20301317..20301333..25326637;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;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 -9 132295872 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216997;RCV=RCV000200211;ALLELE_ID=213587;SYMBOL=SETX;HGVS_C=NM_015046.5:c.6106G>A;HGVS_P=NP_055861.3:p.Gly2036Arg;MOLECULAR_CONSEQUENCE=NM_015046.5:c.6106G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spinocerebellar_ataxia_autosomal_recessive_1|Spinocerebellar_ataxia_autosomal_recessive_1;ALL_PMIDS=20050888..20301317..20301333..25326637;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;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 +9 128322879 . TGTCCTCCGTCG T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=417719;RCV=RCV000477704;ALLELE_ID=264313;SYMBOL=COQ4;HGVS_C=NM_016035.4:c.23_33delTCCTCCGTCGG;HGVS_P=NP_057119.2:p.Val8Alafs;MOLECULAR_CONSEQUENCE=NM_016035.4:c.23_33delTCCTCCGTCGG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Columbia_University_Medical_Center..Columbia_University;ALL_TRAITS=Coenzyme_Q10_deficiency..primary..7;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:CN228795|OMIM:616276|Orphanet:457185 9 132327718 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2294;RCV=RCV000002384;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_autosomal_recessive_1|SPINOCEREBELLAR_ATAXIA..AUTOSOMAL_RECESSIVE_1;ALL_PMIDS=16717225..20050888..20301317..20301333;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;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 9 132327789 . G A . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=157525;RCV=RCV000144869;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 9 132328521 . C CTCA . . MEASURESET_TYPE=Distinct_chromosomes;MEASURESET_ID=157528;RCV=RCV000144873;ALLELE_ID=167390;SYMBOL=SETX;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 @@ -444,40 +296,34 @@ 9 133437836 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=5813;RCV=RCV000006169;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 9 133636672 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=1752;RCV=RCV000001822;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Dopamine_beta_hydroxylase_deficiency|DOPAMINE_BETA-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11857564..20301647;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1474|Genetic_Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316|MedGen:C1857209|OMIM:223360|Office_of_Rare_Diseases:1903|Orphanet:230 9 133647854 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=1752;RCV=RCV000001822;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Dopamine_beta_hydroxylase_deficiency|DOPAMINE_BETA-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11857564..20301647;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1474|Genetic_Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316|MedGen:C1857209|OMIM:223360|Office_of_Rare_Diseases:1903|Orphanet:230 -10 12108004 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216918;RCV=RCV000199635;ALLELE_ID=213596;SYMBOL=DHTKD1;HGVS_C=NM_018706.6:c.2143C>T;HGVS_P=NP_061176.3:p.Arg715Cys;MOLECULAR_CONSEQUENCE=NM_018706.6:c.2143C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=2-aminoadipic_2-oxoadipic_aciduria|Aminoadipic_aciduria;ALL_PMIDS=25326637;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C1859817|OMIM:204750|Orphanet:79154 -10 12112930 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216918;RCV=RCV000199635;ALLELE_ID=48163;SYMBOL=DHTKD1;HGVS_C=NM_018706.6:c.2185G>A;HGVS_P=NP_061176.3:p.Gly729Arg;MOLECULAR_CONSEQUENCE=NM_018706.6:c.2185G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=2-aminoadipic_2-oxoadipic_aciduria|Aminoadipic_aciduria;ALL_PMIDS=25326637;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C1859817|OMIM:204750|Orphanet:79154 -10 43114496 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13906;RCV=RCV000014920;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|Genetic_Testing_Registry_(GTR):GTR000334280|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501592|Genetic_Testing_Registry_(GTR):GTR000501593|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501595|Genetic_Testing_Registry_(GTR):GTR000508799|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000509879|Genetic_Testing_Registry_(GTR):GTR000510673|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|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 -10 43114497 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13906;RCV=RCV000014920;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|Genetic_Testing_Registry_(GTR):GTR000334280|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501592|Genetic_Testing_Registry_(GTR):GTR000501593|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501595|Genetic_Testing_Registry_(GTR):GTR000508799|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000509879|Genetic_Testing_Registry_(GTR):GTR000510673|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|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 -10 43114500 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13906;RCV=RCV000014920;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|Genetic_Testing_Registry_(GTR):GTR000334280|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501592|Genetic_Testing_Registry_(GTR):GTR000501593|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501595|Genetic_Testing_Registry_(GTR):GTR000508799|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000509879|Genetic_Testing_Registry_(GTR):GTR000510673|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|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 -10 43119548 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13945;RCV=RCV000014972;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|Genetic_Testing_Registry_(GTR):GTR000021494|Genetic_Testing_Registry_(GTR):GTR000323826|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501596|Genetic_Testing_Registry_(GTR):GTR000508800|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000510675|Genetic_Testing_Registry_(GTR):GTR000512292|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001 -10 43120184 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13945;RCV=RCV000014972;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|Genetic_Testing_Registry_(GTR):GTR000021494|Genetic_Testing_Registry_(GTR):GTR000323826|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501596|Genetic_Testing_Registry_(GTR):GTR000508800|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000510675|Genetic_Testing_Registry_(GTR):GTR000512292|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001 +10 43114496 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13906;RCV=RCV000014920;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|Genetic_Testing_Registry_(GTR):GTR000334280|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501592|Genetic_Testing_Registry_(GTR):GTR000501593|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501595|Genetic_Testing_Registry_(GTR):GTR000508799|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000509879|Genetic_Testing_Registry_(GTR):GTR000510673|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|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 +10 43114497 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13906;RCV=RCV000014920;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|Genetic_Testing_Registry_(GTR):GTR000334280|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501592|Genetic_Testing_Registry_(GTR):GTR000501593|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501595|Genetic_Testing_Registry_(GTR):GTR000508799|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000509879|Genetic_Testing_Registry_(GTR):GTR000510673|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|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 +10 43114500 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13906;RCV=RCV000014920;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|Genetic_Testing_Registry_(GTR):GTR000334280|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501592|Genetic_Testing_Registry_(GTR):GTR000501593|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501595|Genetic_Testing_Registry_(GTR):GTR000508799|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000509879|Genetic_Testing_Registry_(GTR):GTR000510673|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|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 +10 43119548 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13945;RCV=RCV000014972;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|Genetic_Testing_Registry_(GTR):GTR000021494|Genetic_Testing_Registry_(GTR):GTR000323826|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501596|Genetic_Testing_Registry_(GTR):GTR000508800|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000510675|Genetic_Testing_Registry_(GTR):GTR000512292|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|MeSH:D018814|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001 +10 43120184 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13945;RCV=RCV000014972;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|Genetic_Testing_Registry_(GTR):GTR000021494|Genetic_Testing_Registry_(GTR):GTR000323826|Genetic_Testing_Registry_(GTR):GTR000501433|Genetic_Testing_Registry_(GTR):GTR000501488|Genetic_Testing_Registry_(GTR):GTR000501594|Genetic_Testing_Registry_(GTR):GTR000501596|Genetic_Testing_Registry_(GTR):GTR000508800|Genetic_Testing_Registry_(GTR):GTR000509383|Genetic_Testing_Registry_(GTR):GTR000509729|Genetic_Testing_Registry_(GTR):GTR000510675|Genetic_Testing_Registry_(GTR):GTR000512292|Genetic_Testing_Registry_(GTR):GTR000520029|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000522323|Genetic_Testing_Registry_(GTR):GTR000528040|Genetic_Testing_Registry_(GTR):GTR000528367|Genetic_Testing_Registry_(GTR):GTR000528534|Genetic_Testing_Registry_(GTR):GTR000528651|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000528911|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000528913|MeSH:D018814|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001 10 62813491 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16751;RCV=RCV000018235;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Neuropathy..congenital_hypomyelinating..autosomal_dominant|NEUROPATHY..CONGENITAL_HYPOMYELINATING..AUTOSOMAL_DOMINANT;ALL_PMIDS=9537424;ORIGIN=germline;XREFS=MedGen:CN069993 10 62813492 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16751;RCV=RCV000018235;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Neuropathy..congenital_hypomyelinating..autosomal_dominant|NEUROPATHY..CONGENITAL_HYPOMYELINATING..AUTOSOMAL_DOMINANT;ALL_PMIDS=9537424;ORIGIN=germline;XREFS=MedGen:CN069993 10 70884002 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=180130;RCV=RCV000156929;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hyperphenylalaninemia..BH4-deficient..D|HYPERPHENYLALANINEMIA..BH4-DEFICIENT..D;ALL_PMIDS=24848070..9760199;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Hyperphenylalaninemia+with+primapterinuria/3595|Genetic_Testing_Registry_(GTR):GTR000500613|Genetic_Testing_Registry_(GTR):GTR000500614|MedGen:C1849700|OMIM:264070|Orphanet:238583 10 70885854 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=180130;RCV=RCV000156929;ALLELE_ID=178311;SYMBOL=PCBD1;HGVS_C=NM_000281.3:c.79G>T;HGVS_P=NP_000272.1:p.Glu27Ter;MOLECULAR_CONSEQUENCE=NM_000281.3:c.79G>T:nonsense|NM_001289797.1:c.-69G>T:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hyperphenylalaninemia..BH4-deficient..D|HYPERPHENYLALANINEMIA..BH4-DEFICIENT..D;ALL_PMIDS=24848070..9760199;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Hyperphenylalaninemia+with+primapterinuria/3595|Genetic_Testing_Registry_(GTR):GTR000500613|Genetic_Testing_Registry_(GTR):GTR000500614|MedGen:C1849700|OMIM:264070|Orphanet:238583 -10 78000043 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216984;RCV=RCV000198773;ALLELE_ID=40102;SYMBOL=POLR3A;HGVS_C=NM_007055.3:c.2554A>G;HGVS_P=NP_008986.2:p.Met852Val;MOLECULAR_CONSEQUENCE=NM_007055.3:c.2554A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Hypomyelinating_leukodystrophy_7|Hypomyelinating_leukodystrophy_7;ALL_PMIDS=22855961..25326637;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK99167|Genetic_Alliance:Leukodystrophy+with+oligodontia/4200|MedGen:C1843200|OMIM:607694|OMIM:614258.0001|OMIM:614258.0002|OMIM:614258.0003|OMIM:614258.0004|OMIM:614258.0005|OMIM:614258.0006|OMIM:614258.0007|Office_of_Rare_Diseases:9632|Orphanet:137639|Orphanet:447893|Orphanet:447896|Orphanet:77295|Orphanet:88637 -10 78025091 . GCTT G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216984;RCV=RCV000198773;ALLELE_ID=213601;SYMBOL=POLR3A;HGVS_C=NM_007055.3:c.367_369delAAG;HGVS_P=NP_008986.2:p.Lys123del;MOLECULAR_CONSEQUENCE=NM_007055.3:c.367_369delAAG:inframe_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Hypomyelinating_leukodystrophy_7|Hypomyelinating_leukodystrophy_7;ALL_PMIDS=22855961..25326637;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK99167|Genetic_Alliance:Leukodystrophy+with+oligodontia/4200|MedGen:C1843200|OMIM:607694|OMIM:614258.0001|OMIM:614258.0002|OMIM:614258.0003|OMIM:614258.0004|OMIM:614258.0005|OMIM:614258.0006|OMIM:614258.0007|Office_of_Rare_Diseases:9632|Orphanet:137639|Orphanet:447893|Orphanet:447896|Orphanet:77295|Orphanet:88637 10 94313343 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=266012;RCV=RCV000256386;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Nephrotic_syndrome..type_3;AGE_OF_ONSET=All_ages;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+3/8988|MedGen:C1853124|OMIM:610725|Orphanet:656 10 94324971 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=266012;RCV=RCV000256386;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Nephrotic_syndrome..type_3;AGE_OF_ONSET=All_ages;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+3/8988|MedGen:C1853124|OMIM:610725|Orphanet:656 10 94942290 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=177709;RCV=RCV000154312;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=reviewed_by_expert_panel;GOLD_STARS=3;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Warfarin_response|Warfarin_Metabolism;ALL_PMIDS=18281915..18281922..20504253..24251364..26186657;PREVALENCE=Alelle_frequencies:_CYP2C9*2-_Caucasians_15%..Hispanics_7%..African-Americans_3%..Asians_3%:_CYP2C9*3-_Caucasians_6%..Hispanics_6%..African-Americans_2%..Asians_4%:_VKORC1*2_(-1639G>A)_-_Caucasians_41%..Hispanics_44%..African-Americans_11%..Asians_90%.;ORIGIN=germline;XREFS=Genetic_Alliance:Warfarin+response/9469|Genetic_Testing_Registry_(GTR):GTR000500237|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 10 94981296 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=163021;RCV=RCV000150378;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=reviewed_by_expert_panel;GOLD_STARS=3;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Warfarin_response|Warfarin_Metabolism;ALL_PMIDS=18281915..18281922..20504253..24251364..26186657;PREVALENCE=Alelle_frequencies:_CYP2C9*2-_Caucasians_15%..Hispanics_7%..African-Americans_3%..Asians_3%:_CYP2C9*3-_Caucasians_6%..Hispanics_6%..African-Americans_2%..Asians_4%:_VKORC1*2_(-1639G>A)_-_Caucasians_41%..Hispanics_44%..African-Americans_11%..Asians_90%.;ORIGIN=germline;XREFS=Genetic_Alliance:Warfarin+response/9469|Genetic_Testing_Registry_(GTR):GTR000500237|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 10 119030538 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65392;RCV=RCV000055619;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spermatogenic_failure_12|SPERMATOGENIC_FAILURE_12;ALL_PMIDS=23315541;ORIGIN=germline;XREFS=MedGen:C3809427|OMIM:615413 10 119030627 . CG TA . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65392;RCV=RCV000055619;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spermatogenic_failure_12|SPERMATOGENIC_FAILURE_12;ALL_PMIDS=23315541;ORIGIN=germline;XREFS=MedGen:C3809427|OMIM:615413 -10 122461777 . AG A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156102;RCV=RCV000144150;ALLELE_ID=165898;SYMBOL=HTRA1;HGVS_C=NM_002775.4:c.126delG;HGVS_P=NP_002766.1:p.Glu42Aspfs;MOLECULAR_CONSEQUENCE=NM_002775.4:c.126delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy|Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy;ALL_PMIDS=1..20437615..24500651;AGE_OF_ONSET=Adolescent;ORIGIN=germline;XREFS=GeneReviews:NBK32533|Genetic_Alliance:Cerebral+Autosomal+Recessive+Arteriopathy+with+Subcortical+Infarcts+and+Leukoencephalopathy/1222|MedGen:C1838577|OMIM:600142|Office_of_Rare_Diseases:10424|Orphanet:199354 -10 122506874 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156102;RCV=RCV000144150;ALLELE_ID=165899;SYMBOL=HTRA1;HGVS_C=NM_002775.4:c.961G>A;HGVS_P=NP_002766.1:p.Ala321Thr;MOLECULAR_CONSEQUENCE=NM_002775.4:c.961G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy|Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy;ALL_PMIDS=1..20437615..24500651;AGE_OF_ONSET=Adolescent;ORIGIN=germline;XREFS=GeneReviews:NBK32533|Genetic_Alliance:Cerebral+Autosomal+Recessive+Arteriopathy+with+Subcortical+Infarcts+and+Leukoencephalopathy/1222|MedGen:C1838577|OMIM:600142|Office_of_Rare_Diseases:10424|Orphanet:199354 10 133526101 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16887;RCV=RCV000018383;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=CYP2E1*5B_ALLELE|CYP2E1*5B_ALLELE;ALL_PMIDS=10543395..1778977..19444287;ORIGIN=germline;XREFS=OMIM:124040.0001 10 133526341 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16887;RCV=RCV000018383;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=CYP2E1*5B_ALLELE|CYP2E1*5B_ALLELE;ALL_PMIDS=10543395..1778977..19444287;ORIGIN=germline;XREFS=OMIM:124040.0001 11 2572089 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3146;RCV=RCV000003296;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=Likely_pathogenic|Pathogenic|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1129|Genetic_Alliance:Long+QT+syndrome+1/4297|Genetic_Testing_Registry_(GTR):GTR000260589|Genetic_Testing_Registry_(GTR):GTR000323829|Genetic_Testing_Registry_(GTR):GTR000500450|Genetic_Testing_Registry_(GTR):GTR000502615|Genetic_Testing_Registry_(GTR):GTR000510878|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520076|Genetic_Testing_Registry_(GTR):GTR000521333|Genetic_Testing_Registry_(GTR):GTR000523357|Genetic_Testing_Registry_(GTR):GTR000523361|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000552366|MedGen:C0035828|OMIM:192500|Office_of_Rare_Diseases:3284|Orphanet:101016|Orphanet:768|SNOMED_CT:20852007 11 2587690 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3146;RCV=RCV000003296;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1129|Genetic_Alliance:Long+QT+syndrome+1/4297|Genetic_Testing_Registry_(GTR):GTR000260589|Genetic_Testing_Registry_(GTR):GTR000323829|Genetic_Testing_Registry_(GTR):GTR000500450|Genetic_Testing_Registry_(GTR):GTR000502615|Genetic_Testing_Registry_(GTR):GTR000510878|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520076|Genetic_Testing_Registry_(GTR):GTR000521333|Genetic_Testing_Registry_(GTR):GTR000523357|Genetic_Testing_Registry_(GTR):GTR000523361|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000552366|MedGen:C0035828|OMIM:192500|Office_of_Rare_Diseases:3284|Orphanet:101016|Orphanet:768|SNOMED_CT:20852007 11 5225609 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15617;RCV=RCV000016884;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_KOCHI|HEMOGLOBIN_KOCHI;ALL_PMIDS=15768550;ORIGIN=germline;XREFS=OMIM:141900.0532 -11 5225614 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15337;RCV=RCV000016580;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(TRAVIS)|HEMOGLOBIN_S_(TRAVIS);ALL_PMIDS=19257..20942;ORIGIN=germline;XREFS=OMIM:141900.0247 +11 5225614 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15337;RCV=RCV000016580;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(TRAVIS)|HEMOGLOBIN_S_(TRAVIS);ALL_PMIDS=1634360..19257;ORIGIN=germline;XREFS=OMIM:141900.0247 11 5225618 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15617;RCV=RCV000016884;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_KOCHI|HEMOGLOBIN_KOCHI;ALL_PMIDS=15768550;ORIGIN=germline;XREFS=OMIM:141900.0532 11 5225675 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15581;RCV=RCV000016848;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_CASABLANCA|HEMOGLOBIN_CASABLANCA;ALL_PMIDS=10870883;ORIGIN=germline;XREFS=OMIM:141900.0493 11 5225678 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15366|15496|15591;RCV=RCV000016617|RCV000016758|RCV000016858;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=Pathogenic|other;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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|1177278..1244906..12709369..15108284..16370495..16540414..1787096..19440680..19460936..20437613..20704537..20838957..21119755..2930724..4613830..640855..893136|11570725..1177278..1244906..12709369..15108284..16370495..16540414..19440680..19460936..20437613..20704537..20838957..21119755..2930724..4613830..640855..893136;ORIGIN=germline;XREFS=OMIM:141900.0276|OMIM:141900.0407|OMIM:141900.0502 11 5225678 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15335|15596;RCV=RCV000016577|RCV000016863;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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|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=MedGen:C1264000|OMIM:141900.0245|SNOMED_CT:127048005|OMIM:141900.0507 -11 5225683 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15165|15262;RCV=RCV000016336|RCV000016486;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_MASUDA;ALL_PMIDS=11828..7852084|2634673;ORIGIN=germline;XREFS=OMIM:141900.0075|OMIM:141900.0172 +11 5225683 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15165|15262;RCV=RCV000016336|RCV000016486;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_MASUDA;ALL_PMIDS=20942..7852084|2634673;ORIGIN=germline;XREFS=OMIM:141900.0075|OMIM:141900.0172 11 5225699 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15262;RCV=RCV000016486;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_MASUDA|HEMOGLOBIN_MASUDA;ALL_PMIDS=2634673;ORIGIN=germline;XREFS=OMIM:141900.0172 -11 5225708 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15165;RCV=RCV000016336;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_FANNIN-LUBBOCK;ALL_PMIDS=11828..7852084;ORIGIN=germline;XREFS=OMIM:141900.0075 +11 5225708 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15165;RCV=RCV000016336;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_FANNIN-LUBBOCK;ALL_PMIDS=20942..7852084;ORIGIN=germline;XREFS=OMIM:141900.0075 11 5226597 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15541;RCV=RCV000016807;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_MEDICINE_LAKE|HEMOGLOBIN_MEDICINE_LAKE;ALL_PMIDS=7860732;ORIGIN=germline;XREFS=OMIM:141900.0452 11 5226606 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15098;RCV=RCV000016251;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=other;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_ARLINGTON_PARK|HEMOGLOBIN_ARLINGTON_PARK;ALL_PMIDS=893139;ORIGIN=germline;XREFS=OMIM:141900.0010 11 5226612 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15496;RCV=RCV000016758;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 @@ -485,7 +331,7 @@ 11 5226621 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15610;RCV=RCV000016877;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(CAMEROON)|HEMOGLOBIN_S_(CAMEROON);ALL_PMIDS=15182055;ORIGIN=germline;XREFS=OMIM:141900.0521 11 5226633 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15313;RCV=RCV000016553;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_POISSY|HEMOGLOBIN_POISSY;ALL_PMIDS=3841063;ORIGIN=germline;XREFS=OMIM:141900.0223 11 5226672 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15127;RCV=RCV000016286;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=other;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(GEORGETOWN);ALL_PMIDS=13943409..5069596..5490239..5928902;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040 -11 5226687 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15612;RCV=RCV000016879;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_JAMAICA_PLAIN|HEMOGLOBIN_JAMAICA_PLAIN;ALL_PMIDS=15470211..15470216;ORIGIN=germline;XREFS=OMIM:141900.0523 +11 5226687 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15612;RCV=RCV000016879;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_JAMAICA_PLAIN|HEMOGLOBIN_JAMAICA_PLAIN;ALL_PMIDS=15470216..6166632;ORIGIN=germline;XREFS=OMIM:141900.0523 11 5226695 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15581;RCV=RCV000016848;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_CASABLANCA|HEMOGLOBIN_CASABLANCA;ALL_PMIDS=10870883;ORIGIN=germline;XREFS=OMIM:141900.0493 11 5226716 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15128;RCV=RCV000030905;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(ZIGUINCHOR);ALL_PMIDS=1225575..893143;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040 11 5226723 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15313;RCV=RCV000016553;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_POISSY|HEMOGLOBIN_POISSY;ALL_PMIDS=3841063;ORIGIN=germline;XREFS=OMIM:141900.0223 @@ -496,63 +342,32 @@ 11 5226952 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15334;RCV=RCV000016576;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(ANTILLES)|HEMOGLOBIN_S_(ANTILLES);ALL_PMIDS=2189492..3467311..9166865;ORIGIN=germline;XREFS=OMIM:141900.0244 11 5226988 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15596;RCV=RCV000016863;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=other;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 11 5226993 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15591;RCV=RCV000016858;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 -11 5227002 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15127|15128|15334|15335|15336|15337|15610|15612;RCV=RCV000016286|RCV000030905|RCV000016576|RCV000016577|RCV000016579|RCV000016580|RCV000016877|RCV000016879;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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|19257..20942|15182055|15470211..15470216;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 +11 5227002 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15127|15128|15334|15335|15336|15337|15610|15612;RCV=RCV000016286|RCV000030905|RCV000016576|RCV000016577|RCV000016579|RCV000016580|RCV000016877|RCV000016879;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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 11 5227003 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15098;RCV=RCV000016251;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_ARLINGTON_PARK|HEMOGLOBIN_ARLINGTON_PARK;ALL_PMIDS=893139;ORIGIN=germline;XREFS=OMIM:141900.0010 11 5248393 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15036;RCV=RCV000016180;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(CHARLOTTE);ALL_PMIDS=1714434;ORIGIN=germline;XREFS=OMIM:142200.0032 11 5248394 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15041;RCV=RCV000016185;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(PORTO_TORRES)|HEMOGLOBIN_F_(PORTO_TORRES);ALL_PMIDS=15666429;ORIGIN=germline;XREFS=OMIM:142200.0037 11 5249456 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15036|15041;RCV=RCV000016180|RCV000016185;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(PORTO_TORRES);ALL_PMIDS=1714434|15666429;ORIGIN=germline;XREFS=OMIM:142200.0032|OMIM:142200.0037 -11 6393898 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218155;RCV=RCV000214418;ALLELE_ID=214803;SYMBOL=SMPD1;HGVS_C=NM_000543.4:c.1343A>G;HGVS_P=NP_000534.3:p.Tyr448Cys;MOLECULAR_CONSEQUENCE=NM_000543.4:c.1343A>G:missense_variant|NR_027400.2:n.1356A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratorio_de_Medicina_Genomica..Hospital_General_de_Culiacan;ALL_TRAITS=Niemann-Pick_disease..type_B|Niemann-Pick_Disease..Type_B;ALL_PMIDS=20301544..9918480;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1_in_248..000_(in_combination_with_Niemann-Pick_A)|1-9_/_1_000_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1370|Genetic_Alliance:Niemann-Pick+Disease%2C+Type+B/5227|Genetic_Testing_Registry_(GTR):GTR000051492|Genetic_Testing_Registry_(GTR):GTR000245131|Genetic_Testing_Registry_(GTR):GTR000246735|Genetic_Testing_Registry_(GTR):GTR000318940|Genetic_Testing_Registry_(GTR):GTR000330870|Genetic_Testing_Registry_(GTR):GTR000501745|Genetic_Testing_Registry_(GTR):GTR000501749|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528634|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0268243|OMIM:607616|Orphanet:77293|SNOMED_CT:39390005 -11 6393981 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=218155;RCV=RCV000214418;ALLELE_ID=99222;SYMBOL=SMPD1;HGVS_C=NM_000543.4:c.1426C>T;HGVS_P=NP_000534.3:p.Arg476Trp;MOLECULAR_CONSEQUENCE=NM_000543.4:c.1426C>T:missense_variant|NR_027400.2:n.1439C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratorio_de_Medicina_Genomica..Hospital_General_de_Culiacan;ALL_TRAITS=Niemann-Pick_disease..type_B|Niemann-Pick_Disease..Type_B;ALL_PMIDS=20301544..9918480;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1_in_248..000_(in_combination_with_Niemann-Pick_A)|1-9_/_1_000_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1370|Genetic_Alliance:Niemann-Pick+Disease%2C+Type+B/5227|Genetic_Testing_Registry_(GTR):GTR000051492|Genetic_Testing_Registry_(GTR):GTR000245131|Genetic_Testing_Registry_(GTR):GTR000246735|Genetic_Testing_Registry_(GTR):GTR000318940|Genetic_Testing_Registry_(GTR):GTR000330870|Genetic_Testing_Registry_(GTR):GTR000501745|Genetic_Testing_Registry_(GTR):GTR000501749|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528634|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0268243|OMIM:607616|Orphanet:77293|SNOMED_CT:39390005 -11 22218262 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216889;RCV=RCV000200720;ALLELE_ID=194564;SYMBOL=ANO5;HGVS_C=NM_213599.2:c.155A>G;HGVS_P=NP_998764.1:p.Asn52Ser;MOLECULAR_CONSEQUENCE=NM_213599.2:c.155A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2L|Miyoshi_muscular_dystrophy_3|Miyoshi_muscular_dystrophy_3|Limb-girdle_muscular_dystrophy..type_2L;ALL_PMIDS=20096397..20301582..21186264..22402862..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=2:100_000_in_Finland..0..26:100_000_in_the_North_of_England|<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1408|Genetic_Alliance:Miyoshi+muscular+dystrophy+3/8905|Genetic_Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2l/8929|Genetic_Testing_Registry_(GTR):GTR000501777|Genetic_Testing_Registry_(GTR):GTR000502395|Genetic_Testing_Registry_(GTR):GTR000502449|Genetic_Testing_Registry_(GTR):GTR000505573|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000521008|Genetic_Testing_Registry_(GTR):GTR000521011|Genetics_Home_Reference:limb-girdle-muscular-dystrophy|Genetics_Home_Reference:miyoshi-myopathy|MedGen:C1969785|MedGen:C2750076|OMIM:611307|OMIM:613319|Orphanet:206549|Orphanet:399096 -11 22221100 . C CA . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216889;RCV=RCV000200720;ALLELE_ID=17203;SYMBOL=ANO5;HGVS_C=NM_213599.2:c.191dupA;HGVS_P=NP_998764.1:p.Asn64Lysfs;MOLECULAR_CONSEQUENCE=NM_213599.2:c.191dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2L|Miyoshi_muscular_dystrophy_3|Miyoshi_muscular_dystrophy_3|Limb-girdle_muscular_dystrophy..type_2L;ALL_PMIDS=20096397..20301582..21186264..22402862..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=2:100_000_in_Finland..0..26:100_000_in_the_North_of_England|<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1408|Genetic_Alliance:Miyoshi+muscular+dystrophy+3/8905|Genetic_Alliance:Muscular+dystrophy%2C+limb-girdle%2C+type+2l/8929|Genetic_Testing_Registry_(GTR):GTR000501777|Genetic_Testing_Registry_(GTR):GTR000502395|Genetic_Testing_Registry_(GTR):GTR000502449|Genetic_Testing_Registry_(GTR):GTR000505573|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000521008|Genetic_Testing_Registry_(GTR):GTR000521011|Genetics_Home_Reference:limb-girdle-muscular-dystrophy|Genetics_Home_Reference:miyoshi-myopathy|MedGen:C1969785|MedGen:C2750076|OMIM:611307|OMIM:613319|Orphanet:206549|Orphanet:399096 11 36574823 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13157;RCV=RCV000014043;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 11 36575514 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13157;RCV=RCV000014043;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 11 44107972 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=218894;RCV=RCV000203245;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|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Seizures..scoliosis..and_macrocephaly_syndrome|SEIZURES..SCOLIOSIS..AND_MACROCEPHALY_SYNDROME_(1_family);ALL_PMIDS=26246518;ORIGIN=germline;XREFS=MedGen:CN234668|OMIM:616682 11 44107995 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=218894;RCV=RCV000203245;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Seizures..scoliosis..and_macrocephaly_syndrome|SEIZURES..SCOLIOSIS..AND_MACROCEPHALY_SYNDROME_(1_family);ALL_PMIDS=26246518;ORIGIN=germline;XREFS=MedGen:CN234668|OMIM:616682 -11 47441694 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216989;RCV=RCV000200529;ALLELE_ID=213611;SYMBOL=RAPSN;HGVS_C=NM_005055.4:c.829A>G;HGVS_P=NP_005046.2:p.Thr277Ala;MOLECULAR_CONSEQUENCE=NM_005055.4:c.829A>G:missense_variant|NM_032645.4:c.789+129A>G:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Pena-Shokeir_syndrome_type_I|Myasthenic_syndrome..congenital..associated_with_acetylcholine_receptor_deficiency|Myasthenic_syndrome..congenital..associated_with_acetylcholine_receptor_deficiency|Pena-Shokeir_syndrome_type_I;ALL_PMIDS=20301347..25326637;AGE_OF_ONSET=Antenatal|Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1168|Genetic_Alliance:Myasthenic+syndrome%2C+congenital%2C+associated+with+acetylcholine+receptor+deficiency/5000|Genetic_Alliance:Pena+Shokeir+syndrome%2C+type+1/5655|MedGen:C1276035|MedGen:C1837091|OMIM:208150|OMIM:608931|Office_of_Rare_Diseases:10108|Office_of_Rare_Diseases:9634|Orphanet:590|Orphanet:994|SNOMED_CT:401138005 -11 47447819 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216989;RCV=RCV000200529;ALLELE_ID=213612;SYMBOL=RAPSN;HGVS_C=NM_005055.4:c.524A>G;HGVS_P=NP_005046.2:p.Gln175Arg;MOLECULAR_CONSEQUENCE=NM_005055.4:c.524A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Pena-Shokeir_syndrome_type_I|Myasthenic_syndrome..congenital..associated_with_acetylcholine_receptor_deficiency|Myasthenic_syndrome..congenital..associated_with_acetylcholine_receptor_deficiency|Pena-Shokeir_syndrome_type_I;ALL_PMIDS=20301347..25326637;AGE_OF_ONSET=Antenatal|Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1168|Genetic_Alliance:Myasthenic+syndrome%2C+congenital%2C+associated+with+acetylcholine+receptor+deficiency/5000|Genetic_Alliance:Pena+Shokeir+syndrome%2C+type+1/5655|MedGen:C1276035|MedGen:C1837091|OMIM:208150|OMIM:608931|Office_of_Rare_Diseases:10108|Office_of_Rare_Diseases:9634|Orphanet:590|Orphanet:994|SNOMED_CT:401138005 -11 57737988 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208953;RCV=RCV000201345;ALLELE_ID=205471;SYMBOL=TMX2-CTNND1;HGVS_C=NM_015959.3:c.326A>G;HGVS_P=NP_057043.1:p.Asp109Gly;MOLECULAR_CONSEQUENCE=NM_001144012.2:c.250+320A>G:intron_variant|NM_015959.3:c.326A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -11 57739207 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208953;RCV=RCV000201345;ALLELE_ID=205472;SYMBOL=TMX2-CTNND1;HGVS_C=NM_015959.3:c.691C>T;HGVS_P=NP_057043.1:p.Arg231Trp;MOLECULAR_CONSEQUENCE=NM_015959.3:c.691C>T:missense_variant|NR_037645.1:n.596C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 11 66346080 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=51008;RCV=RCV000043695;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3809042|OMIM:615287|Orphanet:899 11 66346129 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=51008;RCV=RCV000043695;ALLELE_ID=65679;SYMBOL=B4GAT1;HGVS_C=NM_006876.2:c.1168A>G;HGVS_P=NP_006867.1:p.Asn390Asp;MOLECULAR_CONSEQUENCE=NM_006876.2:c.1168A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3809042|OMIM:615287|Orphanet:899 11 66851168 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=221279;RCV=RCV000207120;ALLELE_ID=222990;SYMBOL=PC;HGVS_C=NM_022172.2:c.2095G>T;HGVS_P=NP_071504.2:p.Val699Leu;MOLECULAR_CONSEQUENCE=NM_001040716.1:c.2095G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Pyruvate_carboxylase_deficiency;ALL_PMIDS=20301764;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK6852|Genetic_Alliance:Pyruvate+carboxylase+deficiency/6120|MedGen:C0034341|OMIM:266150|Office_of_Rare_Diseases:7512|Orphanet:3008|SNOMED_CT:87694001 11 66851168 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=221279;RCV=RCV000207120;ALLELE_ID=222991;SYMBOL=PC;HGVS_C=NM_022172.2:c.2095G>A;HGVS_P=NP_071504.2:p.Val699Met;MOLECULAR_CONSEQUENCE=NM_001040716.1:c.2095G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Pyruvate_carboxylase_deficiency;ALL_PMIDS=20301764;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK6852|Genetic_Alliance:Pyruvate+carboxylase+deficiency/6120|MedGen:C0034341|OMIM:266150|Office_of_Rare_Diseases:7512|Orphanet:3008|SNOMED_CT:87694001 -11 67482889 . CG AA . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=41218;RCV=RCV000034117;ALLELE_ID=49641;SYMBOL=AIP;HGVS_C=NM_001302959.1:c.-900_-899delCGinsAA;MOLECULAR_CONSEQUENCE=NM_001302959.1:c.-900_-899delCGinsAA:2KB_upstream_variant|NM_003977.3:c.-125-145_-125-144delCGinsAA:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Somatotroph_adenoma|AIP-Related_Familial_Isolated_Pituitary_Adenomas;ALL_PMIDS=22720333;PREVALENCE=1-9_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK97965|Genetic_Alliance:Pituitary+adenoma%2C+growth+hormone-secreting/9117|MedGen:C0346302|OMIM:102200|OMIM:605555.0001|OMIM:605555.0002|OMIM:605555.0003|OMIM:605555.0004|OMIM:605555.0005|OMIM:605555.0006|OMIM:605555.0009|Orphanet:963|SNOMED_CT:254957009 -11 67482939 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=41218;RCV=RCV000034117;ALLELE_ID=49640;SYMBOL=AIP;HGVS_C=NM_001302959.1:c.-850G>A;MOLECULAR_CONSEQUENCE=NM_001302959.1:c.-850G>A:2KB_upstream_variant|NM_003977.3:c.-125-95G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Somatotroph_adenoma|AIP-Related_Familial_Isolated_Pituitary_Adenomas;ALL_PMIDS=22720333;PREVALENCE=1-9_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK97965|Genetic_Alliance:Pituitary+adenoma%2C+growth+hormone-secreting/9117|MedGen:C0346302|OMIM:102200|OMIM:605555.0001|OMIM:605555.0002|OMIM:605555.0003|OMIM:605555.0004|OMIM:605555.0005|OMIM:605555.0006|OMIM:605555.0009|Orphanet:963|SNOMED_CT:254957009 -11 67490878 . AG GT . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=41219;RCV=RCV000034118;ALLELE_ID=49643;SYMBOL=AIP;HGVS_C=NM_003977.3:c.878_879delAGinsGT;HGVS_P=NP_003968.3:p.Glu293Gly;MOLECULAR_CONSEQUENCE=NM_001302960.1:c.*18_*19delAGinsGT:3_prime_UTR_variant|NM_003977.3:c.878_879delAGinsGT:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Somatotroph_adenoma|AIP-Related_Familial_Isolated_Pituitary_Adenomas;ALL_PMIDS=22720333;PREVALENCE=1-9_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK97965|Genetic_Alliance:Pituitary+adenoma%2C+growth+hormone-secreting/9117|MedGen:C0346302|OMIM:102200|OMIM:605555.0001|OMIM:605555.0002|OMIM:605555.0003|OMIM:605555.0004|OMIM:605555.0005|OMIM:605555.0006|OMIM:605555.0009|Orphanet:963|SNOMED_CT:254957009 -11 67490879 . GCTGGACCCAGCC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=41219;RCV=RCV000034118;ALLELE_ID=49642;SYMBOL=AIP;HGVS_C=NM_003977.3:c.880_891delCTGGACCCAGCC;HGVS_P=NP_003968.3:p.Asp295_Leu298del;MOLECULAR_CONSEQUENCE=NM_001302960.1:c.*20_*31delCTGGACCCAGCC:3_prime_UTR_variant|NM_003977.3:c.880_891delCTGGACCCAGCC:inframe_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Somatotroph_adenoma|AIP-Related_Familial_Isolated_Pituitary_Adenomas;ALL_PMIDS=22720333;PREVALENCE=1-9_/_1_000_000;ORIGIN=not_provided;XREFS=GeneReviews:NBK97965|Genetic_Alliance:Pituitary+adenoma%2C+growth+hormone-secreting/9117|MedGen:C0346302|OMIM:102200|OMIM:605555.0001|OMIM:605555.0002|OMIM:605555.0003|OMIM:605555.0004|OMIM:605555.0005|OMIM:605555.0006|OMIM:605555.0009|Orphanet:963|SNOMED_CT:254957009 -11 68906074 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216943;RCV=RCV000195889;ALLELE_ID=213614;SYMBOL=IGHMBP2;HGVS_C=NM_002180.2:c.92G>A;HGVS_P=NP_002171.2:p.Trp31Ter;MOLECULAR_CONSEQUENCE=NM_002180.2:c.92G>A:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spinal_muscular_atrophy..distal..autosomal_recessive..1|Spinal_muscular_atrophy_with_respiratory_distress_1;ALL_PMIDS=17761659..25326637;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetics_Home_Reference:spinal-muscular-atrophy-with-respiratory-distress-type-1|MedGen:C1858517|OMIM:604320|Office_of_Rare_Diseases:8592|Orphanet:98920 -11 68911552 . A C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216943;RCV=RCV000195889;ALLELE_ID=213615;SYMBOL=IGHMBP2;HGVS_C=NM_002180.2:c.660A>C;HGVS_P=NP_002171.2:p.Lys220Asn;MOLECULAR_CONSEQUENCE=NM_002180.2:c.660A>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spinal_muscular_atrophy..distal..autosomal_recessive..1|Spinal_muscular_atrophy_with_respiratory_distress_1;ALL_PMIDS=17761659..25326637;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetics_Home_Reference:spinal-muscular-atrophy-with-respiratory-distress-type-1|MedGen:C1858517|OMIM:604320|Office_of_Rare_Diseases:8592|Orphanet:98920 -11 70203505 . TCGAGCAG T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216928;RCV=RCV000195419;ALLELE_ID=213616;SYMBOL=FADD;HGVS_C=NM_003824.3:c.52_58delAGCGAGC;HGVS_P=NP_003815.1:p.Ser18Terfs;MOLECULAR_CONSEQUENCE=NM_003824.3:c.52_58delAGCGAGC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Infections..recurrent..with_encephalopathy..hepatic_dysfunction..and_cardiovascular_malformations|Infections..recurrent..with_encephalopathy..hepatic_dysfunction..and_cardiovascular_malformations;ALL_PMIDS=25326637;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Infections%2C+recurrent%2C+with+encephalopathy%2C+hepatic+dysfunction%2C+and+cardiovascular+malformations/8662|MedGen:C3151062|OMIM:613759|Orphanet:306550 -11 70206159 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216928;RCV=RCV000195419;ALLELE_ID=213617;SYMBOL=FADD;HGVS_C=NM_003824.3:c.313T>C;HGVS_P=NP_003815.1:p.Cys105Arg;MOLECULAR_CONSEQUENCE=NM_003824.3:c.313T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Infections..recurrent..with_encephalopathy..hepatic_dysfunction..and_cardiovascular_malformations|Infections..recurrent..with_encephalopathy..hepatic_dysfunction..and_cardiovascular_malformations;ALL_PMIDS=25326637;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Infections%2C+recurrent%2C+with+encephalopathy%2C+hepatic+dysfunction%2C+and+cardiovascular+malformations/8662|MedGen:C3151062|OMIM:613759|Orphanet:306550 11 72225013 . C CG . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235823;RCV=RCV000224773;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007 11 72229558 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235822;RCV=RCV000224420;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007 11 72229676 . CAG C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235825;RCV=RCV000224914;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007 11 72232303 . GTCACC G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235823;RCV=RCV000224773;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007 11 72234616 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=235825;RCV=RCV000224914;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007 -11 77142719 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236052;RCV=RCV000225048;ALLELE_ID=237612;SYMBOL=MYO7A;HGVS_C=NM_000260.3:c.29T>C;HGVS_P=NP_000251.3:p.Val10Ala;MOLECULAR_CONSEQUENCE=NM_000260.3:c.29T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_2;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Deafness%2C+autosomal+recessive+2/8161|MedGen:C1838701|OMIM:600060|Orphanet:90636 -11 77174789 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236052;RCV=RCV000225048;ALLELE_ID=237614;SYMBOL=MYO7A;HGVS_C=NM_000260.3:c.1969C>T;HGVS_P=NP_000251.3:p.Arg657Trp;MOLECULAR_CONSEQUENCE=NM_000260.3:c.1969C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_2;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Deafness%2C+autosomal+recessive+2/8161|MedGen:C1838701|OMIM:600060|Orphanet:90636 -11 89178092 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190216;RCV=RCV000186573;ALLELE_ID=188043;SYMBOL=TYR;HGVS_C=NM_000372.4:c.139G>A;HGVS_P=NP_000363.1:p.Gly47Ser;MOLECULAR_CONSEQUENCE=NM_000372.4:c.139G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Science_and_Research_Branch..Islamic_Azad_University..Islamic_Azad_University;ALL_TRAITS=Tyrosinase-negative_oculocutaneous_albinism|OCA1A;ALL_PMIDS=20301345..26167114;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy|Neonatal/infancy;PREVALENCE=1-9_/_100_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=paternal;XREFS=GeneReviews:NBK1166|Genetic_Alliance:Oculocutaneous+Albinism+Type+1A/9639|Genetic_Testing_Registry_(GTR):GTR000520184|MedGen:C0268494|OMIM:203100|OMIM:606933.0002|Office_of_Rare_Diseases:4037|Orphanet:352731|Orphanet:79431|Orphanet:ORPHA79431|SNOMED_CT:6483008 -11 89284862 . ACATGGTT A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190216;RCV=RCV000186573;ALLELE_ID=188045;SYMBOL=TYR;HGVS_C=NM_000372.4:c.1276_1282delATGGTTC;HGVS_P=NP_000363.1:p.Met426Leufs;MOLECULAR_CONSEQUENCE=NM_000372.4:c.1276_1282delATGGTTC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Science_and_Research_Branch..Islamic_Azad_University..Islamic_Azad_University;ALL_TRAITS=Tyrosinase-negative_oculocutaneous_albinism|OCA1A;ALL_PMIDS=20301345..26167114;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy|Neonatal/infancy;PREVALENCE=1-9_/_100_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=paternal;XREFS=GeneReviews:NBK1166|Genetic_Alliance:Oculocutaneous+Albinism+Type+1A/9639|Genetic_Testing_Registry_(GTR):GTR000520184|MedGen:C0268494|OMIM:203100|OMIM:606933.0002|Office_of_Rare_Diseases:4037|Orphanet:352731|Orphanet:79431|Orphanet:ORPHA79431|SNOMED_CT:6483008 -11 94478782 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216964;RCV=RCV000199534;ALLELE_ID=151922;SYMBOL=MRE11;HGVS_C=NM_005591.3:c.497C>T;HGVS_P=NP_005582.1:p.Pro166Leu;MOLECULAR_CONSEQUENCE=NM_005591.3:c.497C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Ataxia-telangiectasia-like_disorder_1|Ataxia-telangiectasia-like_disorder;ALL_PMIDS=20050888..25326637;AGE_OF_ONSET=Infancy;ORIGIN=unknown;XREFS=Genetic_Alliance:Early-Onset+Ataxia+with+Oculomotor+Apraxia+and+Hypoalbuminemia/2429|MedGen:C1858391|OMIM:604391|Orphanet:251347 -11 94486070 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216964;RCV=RCV000199534;ALLELE_ID=213618;SYMBOL=MRE11;HGVS_C=NM_005591.3:c.168G>T;HGVS_P=NP_005582.1:p.Leu56Phe;MOLECULAR_CONSEQUENCE=NM_005591.3:c.168G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Ataxia-telangiectasia-like_disorder_1|Ataxia-telangiectasia-like_disorder;ALL_PMIDS=20050888..25326637;AGE_OF_ONSET=Infancy;ORIGIN=unknown;XREFS=Genetic_Alliance:Early-Onset+Ataxia+with+Oculomotor+Apraxia+and+Hypoalbuminemia/2429|MedGen:C1858391|OMIM:604391|Orphanet:251347 -11 108243952 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375243;RCV=RCV000416302;ALLELE_ID=361945;SYMBOL=ATM;HGVS_C=NM_000051.3:c.497-1G>A;MOLECULAR_CONSEQUENCE=NM_000051.3:c.497-1G>A:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Manipal_Health_Enterprises_Pvt_Ltd..Manipal_Hospital;ALL_TRAITS=Ataxia-telangiectasia_syndrome;ALL_PMIDS=20050888..20301317..20301790..24418350..27884168;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Ataxia+Telangiectasia/637|Genetic_Testing_Registry_(GTR):GTR000254953|Genetic_Testing_Registry_(GTR):GTR000309211|Genetic_Testing_Registry_(GTR):GTR000330581|Genetic_Testing_Registry_(GTR):GTR000500363|Genetic_Testing_Registry_(GTR):GTR000507905|Genetic_Testing_Registry_(GTR):GTR000509515|Genetic_Testing_Registry_(GTR):GTR000511094|Genetic_Testing_Registry_(GTR):GTR000512439|Genetic_Testing_Registry_(GTR):GTR000515733|Genetic_Testing_Registry_(GTR):GTR000519349|Genetic_Testing_Registry_(GTR):GTR000519350|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520393|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000522278|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0004135|OMIM:208900|OMIM:607585.0001|OMIM:607585.0014|Office_of_Rare_Diseases:5862|Orphanet:100|SNOMED_CT:68504005 -11 108250699 . A T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375243;RCV=RCV000416302;ALLELE_ID=361947;SYMBOL=ATM;HGVS_C=NM_000051.3:c.1236-2A>T;MOLECULAR_CONSEQUENCE=NM_000051.3:c.1236-2A>T:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Manipal_Health_Enterprises_Pvt_Ltd..Manipal_Hospital;ALL_TRAITS=Ataxia-telangiectasia_syndrome;ALL_PMIDS=20050888..20301317..20301790..24418350..27884168;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=Genetic_Alliance:Ataxia+Telangiectasia/637|Genetic_Testing_Registry_(GTR):GTR000254953|Genetic_Testing_Registry_(GTR):GTR000309211|Genetic_Testing_Registry_(GTR):GTR000330581|Genetic_Testing_Registry_(GTR):GTR000500363|Genetic_Testing_Registry_(GTR):GTR000507905|Genetic_Testing_Registry_(GTR):GTR000509515|Genetic_Testing_Registry_(GTR):GTR000511094|Genetic_Testing_Registry_(GTR):GTR000512439|Genetic_Testing_Registry_(GTR):GTR000515733|Genetic_Testing_Registry_(GTR):GTR000519349|Genetic_Testing_Registry_(GTR):GTR000519350|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520393|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000522278|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0004135|OMIM:208900|OMIM:607585.0001|OMIM:607585.0014|Office_of_Rare_Diseases:5862|Orphanet:100|SNOMED_CT:68504005 11 121166652 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7013;RCV=RCV000007428;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..autosomal_dominant_12|DEAFNESS..AUTOSOMAL_DOMINANT_12;ALL_PMIDS=20301607..9590290;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+dominant+12/8133|MedGen:C1832187|OMIM:601543|Orphanet:90635 11 121166665 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7013;RCV=RCV000007428;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..autosomal_dominant_12|DEAFNESS..AUTOSOMAL_DOMINANT_12;ALL_PMIDS=20301607..9590290;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+dominant+12/8133|MedGen:C1832187|OMIM:601543|Orphanet:90635 11 123083826 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=243098;RCV=RCV000236950;ALLELE_ID=244180;SYMBOL=CLMP;HGVS_C=NM_024769.3:c.410G>A;HGVS_P=NP_079045.1:p.Cys137Tyr;MOLECULAR_CONSEQUENCE=NM_024769.3:c.410G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Clinical_Genetics..Erasmus_University_Medical_Center;ALL_TRAITS=Congenital_short_bowel_syndrome;ALL_PMIDS=27352967;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=not_applicable|unknown;XREFS=MedGen:C0021847|OMIM:615237|Orphanet:2301 11 123097954 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=243098;RCV=RCV000236950;ALLELE_ID=244181;SYMBOL=CLMP;HGVS_C=NM_024769.3:c.29-2A>G;MOLECULAR_CONSEQUENCE=NM_024769.3:c.29-2A>G:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Clinical_Genetics..Erasmus_University_Medical_Center;ALL_TRAITS=Congenital_short_bowel_syndrome;ALL_PMIDS=27352967;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=not_applicable|unknown;XREFS=MedGen:C0021847|OMIM:615237|Orphanet:2301 -12 9157811 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=207839;RCV=RCV000190132;ALLELE_ID=204141;SYMBOL=PZP;HGVS_C=NM_002864.2:c.3325G>A;HGVS_P=NP_002855.2:p.Ala1109Thr;MOLECULAR_CONSEQUENCE=NM_002864.2:c.3325G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Long_QT_syndrome|Long_QT_syndrome;ALL_PMIDS=23994779..26132555;INHERITANCE_MODES=Autosomal_dominant_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Long+QT+Syndrome/4296|Genetic_Testing_Registry_(GTR):GTR000323823|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000500471|Genetic_Testing_Registry_(GTR):GTR000500681|Genetic_Testing_Registry_(GTR):GTR000501111|Genetic_Testing_Registry_(GTR):GTR000502615|Genetic_Testing_Registry_(GTR):GTR000511116|Genetic_Testing_Registry_(GTR):GTR000515873|Genetic_Testing_Registry_(GTR):GTR000519089|Genetic_Testing_Registry_(GTR):GTR000519267|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519380|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000519389|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520446|Genetic_Testing_Registry_(GTR):GTR000520456|Genetic_Testing_Registry_(GTR):GTR000520458|Genetic_Testing_Registry_(GTR):GTR000520478|Genetic_Testing_Registry_(GTR):GTR000522197|Genetic_Testing_Registry_(GTR):GTR000522200|Genetic_Testing_Registry_(GTR):GTR000522257|Genetic_Testing_Registry_(GTR):GTR000528336|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000552174|Genetic_Testing_Registry_(GTR):GTR000552322|MeSH:D008133|MedGen:C0023976|OMIM:PS192500|SNOMED_CT:9651007 -12 9192235 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=207839;RCV=RCV000190132;ALLELE_ID=204142;SYMBOL=PZP;HGVS_C=NM_002864.2:c.1504G>A;HGVS_P=NP_002855.2:p.Val502Ile;MOLECULAR_CONSEQUENCE=NM_002864.2:c.1504G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Long_QT_syndrome|Long_QT_syndrome;ALL_PMIDS=23994779..26132555;INHERITANCE_MODES=Autosomal_dominant_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Long+QT+Syndrome/4296|Genetic_Testing_Registry_(GTR):GTR000323823|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000500471|Genetic_Testing_Registry_(GTR):GTR000500681|Genetic_Testing_Registry_(GTR):GTR000501111|Genetic_Testing_Registry_(GTR):GTR000502615|Genetic_Testing_Registry_(GTR):GTR000511116|Genetic_Testing_Registry_(GTR):GTR000515873|Genetic_Testing_Registry_(GTR):GTR000519089|Genetic_Testing_Registry_(GTR):GTR000519267|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519380|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000519389|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520446|Genetic_Testing_Registry_(GTR):GTR000520456|Genetic_Testing_Registry_(GTR):GTR000520458|Genetic_Testing_Registry_(GTR):GTR000520478|Genetic_Testing_Registry_(GTR):GTR000522197|Genetic_Testing_Registry_(GTR):GTR000522200|Genetic_Testing_Registry_(GTR):GTR000522257|Genetic_Testing_Registry_(GTR):GTR000528336|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000552174|Genetic_Testing_Registry_(GTR):GTR000552322|MeSH:D008133|MedGen:C0023976|OMIM:PS192500|SNOMED_CT:9651007 -12 55692948 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224686;RCV=RCV000230617;ALLELE_ID=226475;SYMBOL=ITGA7;HGVS_C=NM_001144996.1:c.2752C>T;HGVS_P=NP_001138468.1:p.Arg918Trp;MOLECULAR_CONSEQUENCE=NM_002206.2:c.2740C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|Limb-girdle_muscular_dystrophy|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -12 55698580 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224686;RCV=RCV000230617;ALLELE_ID=195639;SYMBOL=ITGA7;HGVS_C=NM_002206.2:c.999-4A>G;MOLECULAR_CONSEQUENCE=NM_002206.2:c.999-4A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=not_specified|Limb-girdle_muscular_dystrophy|not_specified;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=MedGen:CN169374 -12 57498563 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=189366;RCV=RCV000169767;ALLELE_ID=187251;SYMBOL=MARS;HGVS_C=NM_004990.3:c.1031A>G;HGVS_P=NP_004981.2:p.Tyr344Cys;MOLECULAR_CONSEQUENCE=NM_004990.3:c.1031A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health;ALL_TRAITS=Pulmonary_alveolar_proteinosis|Pulmonary_alveolar_proteinosis;ORIGIN=germline;XREFS=MedGen:C0034050|SNOMED_CT:10501004 -12 57500406 . G A . . MEASURESET_TYPE=CompoundHeterozygote|Haplotype;MEASURESET_ID=189366|189364;RCV=RCV000169767|RCV000169765|RCV000173000;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health|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 -12 57512300 . C T . . MEASURESET_TYPE=CompoundHeterozygote|Haplotype;MEASURESET_ID=189366|189364;RCV=RCV000169767|RCV000169765|RCV000173000;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health|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 +12 57500406 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=189364;RCV=RCV000169765|RCV000173000;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health|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 +12 57512300 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=189364;RCV=RCV000169765|RCV000173000;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health|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 12 57763666 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=267264;RCV=RCV000258015;ALLELE_ID=262266;SYMBOL=CYP27B1;HGVS_C=NM_000785.3:c.1358G>A;HGVS_P=NP_000776.1:p.Arg453His;MOLECULAR_CONSEQUENCE=NM_000785.3:c.1358G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Vitamin_D-dependent_rickets..type_1;ALL_PMIDS=25741868;AGE_OF_ONSET=Infancy;PREVALENCE=1-5_/_10_000;ORIGIN=inherited;XREFS=Genetic_Alliance:Vitamin+D-dependent+rickets%2C+type+1/9453|MedGen:C0268689|OMIM:264700|OMIM:609506.0001|OMIM:609506.0002|OMIM:609506.0003|OMIM:609506.0004|OMIM:609506.0005|OMIM:609506.0006|OMIM:609506.0007|OMIM:609506.0008|OMIM:609506.0009|OMIM:609506.0010|OMIM:609506.0011|OMIM:609506.0012|OMIM:609506.0013|OMIM:609506.0014|OMIM:609506.0015|OMIM:609506.0016|OMIM:609506.0017|Orphanet:289157|SNOMED_CT:67049004 12 57763698 . T TGGGTGGG . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=267264;RCV=RCV000258015;ALLELE_ID=264701;SYMBOL=CYP27B1;HGVS_C=NM_000785.3:c.1319_1325dupCCCACCC;HGVS_P=NP_000776.1:p.Phe443Profs;MOLECULAR_CONSEQUENCE=NM_000785.3:c.1319_1325dupCCCACCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Vitamin_D-dependent_rickets..type_1;ALL_PMIDS=25741868;AGE_OF_ONSET=Infancy;PREVALENCE=1-5_/_10_000;ORIGIN=inherited;XREFS=Genetic_Alliance:Vitamin+D-dependent+rickets%2C+type+1/9453|MedGen:C0268689|OMIM:264700|OMIM:609506.0001|OMIM:609506.0002|OMIM:609506.0003|OMIM:609506.0004|OMIM:609506.0005|OMIM:609506.0006|OMIM:609506.0007|OMIM:609506.0008|OMIM:609506.0009|OMIM:609506.0010|OMIM:609506.0011|OMIM:609506.0012|OMIM:609506.0013|OMIM:609506.0014|OMIM:609506.0015|OMIM:609506.0016|OMIM:609506.0017|Orphanet:289157|SNOMED_CT:67049004 -12 57786286 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217020;RCV=RCV000199000;ALLELE_ID=213623;SYMBOL=TSFM;HGVS_C=NM_001172697.1:c.355G>C;HGVS_P=NP_001166168.1:p.Val119Leu;MOLECULAR_CONSEQUENCE=NM_001172697.1:c.355G>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Combined_oxidative_phosphorylation_deficiency_3|Combined_oxidative_phosphorylation_deficiency_3;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Combined+oxidative+phosphorylation+deficiency+3/8015|Genetic_Testing_Registry_(GTR):GTR000335907|MedGen:C1864840|OMIM:610505|Orphanet:168566 -12 57796539 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217020;RCV=RCV000199000;ALLELE_ID=20418;SYMBOL=TSFM;HGVS_C=NM_001172696.1:c.997C>T;HGVS_P=NP_001166167.1:p.Arg333Trp;MOLECULAR_CONSEQUENCE=NM_001172695.1:c.*342C>T:3_prime_UTR_variant|NM_001172696.1:c.997C>T:missense_variant|NM_001172697.1:c.571+3466C>T:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Combined_oxidative_phosphorylation_deficiency_3|Combined_oxidative_phosphorylation_deficiency_3;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Combined+oxidative+phosphorylation+deficiency+3/8015|Genetic_Testing_Registry_(GTR):GTR000335907|MedGen:C1864840|OMIM:610505|Orphanet:168566 12 80358880 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=229122;RCV=RCV000217831;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 12 80358881 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=229122;RCV=RCV000217831;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 12 101757254 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=39094;RCV=RCV000032361;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;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 @@ -562,29 +377,19 @@ 12 101780579 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=39095;RCV=RCV000032362;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;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 12 101786038 . A T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=39095;RCV=RCV000032362;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_1_000_000;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 12 102852903 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217885;RCV=RCV000201954;ALLELE_ID=15623;SYMBOL=PAH;HGVS_C=NM_000277.1:c.754C>T;HGVS_P=NP_000268.1:p.Arg252Trp;MOLECULAR_CONSEQUENCE=NM_000277.1:c.754C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677..21915151..24385074..24667081..2574153..9429153;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_100_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000271419|Genetic_Testing_Registry_(GTR):GTR000311734|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000501645|Genetic_Testing_Registry_(GTR):GTR000501648|Genetic_Testing_Registry_(GTR):GTR000502151|Genetic_Testing_Registry_(GTR):GTR000502914|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|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006 +12 102852922 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=402236;RCV=RCV000454199;ALLELE_ID=98655;SYMBOL=PAH;HGVS_C=NM_000277.1:c.735G>A;HGVS_P=NP_000268.1:p.Val245_eq_;MOLECULAR_CONSEQUENCE=NM_000277.1:c.735G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677..21915151..24385074..24667081..25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_100_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000271419|Genetic_Testing_Registry_(GTR):GTR000311734|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000501645|Genetic_Testing_Registry_(GTR):GTR000501648|Genetic_Testing_Registry_(GTR):GTR000502151|Genetic_Testing_Registry_(GTR):GTR000502914|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|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006 +12 102852934 . GC G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=402236;RCV=RCV000454199;ALLELE_ID=108542;SYMBOL=PAH;HGVS_C=NM_000277.1:c.722delG;HGVS_P=NP_000268.1:p.Arg241Profs;MOLECULAR_CONSEQUENCE=NM_000277.1:c.722delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677..21915151..24385074..24667081..25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_100_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000271419|Genetic_Testing_Registry_(GTR):GTR000311734|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000501645|Genetic_Testing_Registry_(GTR):GTR000501648|Genetic_Testing_Registry_(GTR):GTR000502151|Genetic_Testing_Registry_(GTR):GTR000502914|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|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006 12 102878057 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217885;RCV=RCV000201954;ALLELE_ID=214540;SYMBOL=PAH;HGVS_C=NM_000277.1:c.353-507G>T;MOLECULAR_CONSEQUENCE=NM_000277.1:c.353-507G>T:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677..21915151..24385074..24667081..2574153..9429153;INHERITANCE_MODES=Autosomal_recessive_inheritance;PREVALENCE=1-9_/_100_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000271419|Genetic_Testing_Registry_(GTR):GTR000311734|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000501645|Genetic_Testing_Registry_(GTR):GTR000501648|Genetic_Testing_Registry_(GTR):GTR000502151|Genetic_Testing_Registry_(GTR):GTR000502914|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|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006 -12 106432421 . T A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216985|375245;RCV=RCV000199616|RCV000416290;ALLELE_ID=40123;SYMBOL=POLR3B;HGVS_C=NM_018082.5:c.1568T>A;HGVS_P=NP_060552.4:p.Val523Glu;MOLECULAR_CONSEQUENCE=NM_018082.5:c.1568T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA|Biochimie-Hormonologie..Robert_Debre_Hospital;ALL_TRAITS=Hypomyelinating_leukodystrophy_8..with_or_without_oligodontia_and/or_hypogonadotropic_hypogonadism|Endosteal_sclerosis-cerebellar_hypoplasia_syndrome;ALL_PMIDS=22855961..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK99167|Genetic_Testing_Registry_(GTR):GTR000500812|Genetic_Testing_Registry_(GTR):GTR000512712|MedGen:C3280644|OMIM:614366.0005|OMIM:614366.0006|OMIM:614366.0007|OMIM:614366.0008|OMIM:614381|Orphanet:88637|Human_Phenotype_Ontology:HP:0000007|Human_Phenotype_Ontology:HP:0000677|Human_Phenotype_Ontology:HP:0001251|Human_Phenotype_Ontology:HP:0001321|Human_Phenotype_Ontology:HP:0004322|MedGen:CN240354|Orphanet:ORPHA85186 -12 106444495 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216985;RCV=RCV000199616;ALLELE_ID=213619;SYMBOL=POLR3B;HGVS_C=NM_018082.5:c.1988C>T;HGVS_P=NP_060552.4:p.Thr663Ile;MOLECULAR_CONSEQUENCE=NM_018082.5:c.1988C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Hypomyelinating_leukodystrophy_8..with_or_without_oligodontia_and/or_hypogonadotropic_hypogonadism|Hypomyelinating_leukodystrophy_8..with_or_without_oligodontia_and/or_hypogonadotropic_hypogonadism;ALL_PMIDS=22855961..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK99167|Genetic_Testing_Registry_(GTR):GTR000500812|Genetic_Testing_Registry_(GTR):GTR000512712|MedGen:C3280644|OMIM:614366.0005|OMIM:614366.0006|OMIM:614366.0007|OMIM:614366.0008|OMIM:614381|Orphanet:88637 -12 106496115 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375245;RCV=RCV000416290;ALLELE_ID=361949;SYMBOL=POLR3B;HGVS_C=NM_018082.5:c.2774C>T;HGVS_P=NP_060552.4:p.Pro925Leu;MOLECULAR_CONSEQUENCE=NM_018082.5:c.2774C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Biochimie-Hormonologie..Robert_Debre_Hospital;ALL_TRAITS=Endosteal_sclerosis-cerebellar_hypoplasia_syndrome;ORIGIN=germline;XREFS=Human_Phenotype_Ontology:HP:0000007|Human_Phenotype_Ontology:HP:0000677|Human_Phenotype_Ontology:HP:0001251|Human_Phenotype_Ontology:HP:0001321|Human_Phenotype_Ontology:HP:0004322|MedGen:CN240354|Orphanet:ORPHA85186 -12 109483552 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156589;RCV=RCV000149398;ALLELE_ID=166442;SYMBOL=UBE3B;HGVS_C=NM_130466.3:c.1A>G;HGVS_P=NP_569733.2:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_130466.3:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Department_of_Medical_Genetics..Oslo_University_Hospital;ALL_TRAITS=Kaufman_oculocerebrofacial_syndrome|Congenital_defects|craniofacial_dysmorphism|severe_psychomotor_delay|Kaufman_oculocerebrofacial_syndrome;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneTests:320519|Genetic_Alliance:Kaufman+oculocerebrofacial+syndrome/3962|Genetics_Home_Reference:kaufman-oculocerebrofacial-syndrome|MedGen:C1855663|OMIM:244450|Office_of_Rare_Diseases:3084|Orphanet:2707 -12 109510374 . TC T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156589;RCV=RCV000149398;ALLELE_ID=166443;SYMBOL=UBE3B;HGVS_C=NM_130466.3:c.1773delC;HGVS_P=NP_569733.2:p.Gln592Serfs;MOLECULAR_CONSEQUENCE=NM_130466.3:c.1773delC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Department_of_Medical_Genetics..Oslo_University_Hospital;ALL_TRAITS=Kaufman_oculocerebrofacial_syndrome|Congenital_defects|craniofacial_dysmorphism|severe_psychomotor_delay|Kaufman_oculocerebrofacial_syndrome;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneTests:320519|Genetic_Alliance:Kaufman+oculocerebrofacial+syndrome/3962|Genetics_Home_Reference:kaufman-oculocerebrofacial-syndrome|MedGen:C1855663|OMIM:244450|Office_of_Rare_Diseases:3084|Orphanet:2707 +12 109483552 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156589;RCV=RCV000149398;ALLELE_ID=166442;SYMBOL=UBE3B;HGVS_C=NM_130466.3:c.1A>G;HGVS_P=NP_569733.2:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_130466.3:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Department_of_Medical_Genetics..Oslo_University_Hospital;ALL_TRAITS=Kaufman_oculocerebrofacial_syndrome|Congenital_defects|craniofacial_dysmorphism|severe_psychomotor_delay|Kaufman_oculocerebrofacial_syndrome;AGE_OF_ONSET=Childhood|Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneTests:320519|Genetic_Alliance:Kaufman+oculocerebrofacial+syndrome/3962|Genetics_Home_Reference:kaufman-oculocerebrofacial-syndrome|MedGen:C1855663|OMIM:244450|Office_of_Rare_Diseases:3084|Orphanet:2707 +12 109510374 . TC T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=156589;RCV=RCV000149398;ALLELE_ID=166443;SYMBOL=UBE3B;HGVS_C=NM_130466.3:c.1773delC;HGVS_P=NP_569733.2:p.Gln592Serfs;MOLECULAR_CONSEQUENCE=NM_130466.3:c.1773delC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Department_of_Medical_Genetics..Oslo_University_Hospital;ALL_TRAITS=Kaufman_oculocerebrofacial_syndrome|Congenital_defects|craniofacial_dysmorphism|severe_psychomotor_delay|Kaufman_oculocerebrofacial_syndrome;AGE_OF_ONSET=Childhood|Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneTests:320519|Genetic_Alliance:Kaufman+oculocerebrofacial+syndrome/3962|Genetics_Home_Reference:kaufman-oculocerebrofacial-syndrome|MedGen:C1855663|OMIM:244450|Office_of_Rare_Diseases:3084|Orphanet:2707 13 20189174 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=267367;RCV=RCV000258130;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..autosomal_recessive_1A|DEAFNESS..AUTOSOMAL_RECESSIVE_1A;ALL_PMIDS=1..12560944..15633193..20301449..20301607..20497192..24785414;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=Congenital_deafness_affects_1_in_1..000_births|Congenital_deafness_affects_1_in_1..000_births.|DFNB1_accounts_for_approximately_50%_of_congenital..severe-to-profound..autosomal_recessive_nonsyndromic_hearing_loss_in_the_United_States..France..Britain..and_New_Zealand/Australia_[Denoyelle_et_al_1997..Green_et_al_1999]._Its_approximate_prevalence_in_the_general_population_is_14:100..000..based_on_the_following_calculation:_the_incidence_of_congenital_hereditary_hearing_impairment_is_1:2000_neonates..of_which_70%_have_nonsyndromic_hearing_loss._Seventy-five_to_80%_of_cases_of_nonsyndromic_hearing_loss_are_autosomal_recessive:_of_these..50%_result_from_GJB2_mutations._Thus..5:10..000_x_0.7_x_0.8_x_0.5__eq__14:100..000.;ORIGIN=germline;XREFS=GeneReviews:NBK1272|Genetic_Alliance:Deafness%2C+autosomal+recessive+1A/8159|Genetic_Testing_Registry_(GTR):GTR000056463|Genetic_Testing_Registry_(GTR):GTR000073172|Genetic_Testing_Registry_(GTR):GTR000091949|Genetic_Testing_Registry_(GTR):GTR000091951|Genetic_Testing_Registry_(GTR):GTR000256512|Genetic_Testing_Registry_(GTR):GTR000323135|Genetic_Testing_Registry_(GTR):GTR000323596|Genetic_Testing_Registry_(GTR):GTR000326557|Genetic_Testing_Registry_(GTR):GTR000335368|Genetic_Testing_Registry_(GTR):GTR000500213|Genetic_Testing_Registry_(GTR):GTR000501122|Genetic_Testing_Registry_(GTR):GTR000501789|Genetic_Testing_Registry_(GTR):GTR000501790|Genetic_Testing_Registry_(GTR):GTR000501845|Genetic_Testing_Registry_(GTR):GTR000502361|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000510415|Genetic_Testing_Registry_(GTR):GTR000512701|Genetic_Testing_Registry_(GTR):GTR000519426|Genetic_Testing_Registry_(GTR):GTR000529595|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C2673759|OMIM:220290|Office_of_Rare_Diseases:1697|Orphanet:90636 13 20189241 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=177819;RCV=RCV000154452;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=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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 13 20189448 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=267367;RCV=RCV000258130;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=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..autosomal_recessive_1A|DEAFNESS..AUTOSOMAL_RECESSIVE_1A;ALL_PMIDS=1..12560944..15633193..20301449..20301607..20497192..24785414;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=Congenital_deafness_affects_1_in_1..000_births|Congenital_deafness_affects_1_in_1..000_births.|DFNB1_accounts_for_approximately_50%_of_congenital..severe-to-profound..autosomal_recessive_nonsyndromic_hearing_loss_in_the_United_States..France..Britain..and_New_Zealand/Australia_[Denoyelle_et_al_1997..Green_et_al_1999]._Its_approximate_prevalence_in_the_general_population_is_14:100..000..based_on_the_following_calculation:_the_incidence_of_congenital_hereditary_hearing_impairment_is_1:2000_neonates..of_which_70%_have_nonsyndromic_hearing_loss._Seventy-five_to_80%_of_cases_of_nonsyndromic_hearing_loss_are_autosomal_recessive:_of_these..50%_result_from_GJB2_mutations._Thus..5:10..000_x_0.7_x_0.8_x_0.5__eq__14:100..000.;ORIGIN=germline;XREFS=GeneReviews:NBK1272|Genetic_Alliance:Deafness%2C+autosomal+recessive+1A/8159|Genetic_Testing_Registry_(GTR):GTR000056463|Genetic_Testing_Registry_(GTR):GTR000073172|Genetic_Testing_Registry_(GTR):GTR000091949|Genetic_Testing_Registry_(GTR):GTR000091951|Genetic_Testing_Registry_(GTR):GTR000256512|Genetic_Testing_Registry_(GTR):GTR000323135|Genetic_Testing_Registry_(GTR):GTR000323596|Genetic_Testing_Registry_(GTR):GTR000326557|Genetic_Testing_Registry_(GTR):GTR000335368|Genetic_Testing_Registry_(GTR):GTR000500213|Genetic_Testing_Registry_(GTR):GTR000501122|Genetic_Testing_Registry_(GTR):GTR000501789|Genetic_Testing_Registry_(GTR):GTR000501790|Genetic_Testing_Registry_(GTR):GTR000501845|Genetic_Testing_Registry_(GTR):GTR000502361|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000510415|Genetic_Testing_Registry_(GTR):GTR000512701|Genetic_Testing_Registry_(GTR):GTR000519426|Genetic_Testing_Registry_(GTR):GTR000529595|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C2673759|OMIM:220290|Office_of_Rare_Diseases:1697|Orphanet:90636 13 20189503 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=177819;RCV=RCV000154452;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=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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 -13 23332252 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216995;RCV=RCV000197883;ALLELE_ID=213625;SYMBOL=SACS;HGVS_C=NM_014363.5:c.11624G>A;HGVS_P=NP_055178.3:p.Arg3875His;MOLECULAR_CONSEQUENCE=NM_014363.5:c.11624G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spastic_ataxia_Charlevoix-Saguenay_type|Spastic_ataxia_Charlevoix-Saguenay_type;ALL_PMIDS=20301432..24418350..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=unknown;XREFS=GeneReviews:NBK1255|Genetic_Alliance:Spastic+ataxia+Charlevoix-Saguenay+type/6671|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C1849140|OMIM:270550|Office_of_Rare_Diseases:4910|Orphanet:98 -13 23336600 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216995;RCV=RCV000197883;ALLELE_ID=186869;SYMBOL=SACS;HGVS_C=NM_014363.5:c.7276C>T;HGVS_P=NP_055178.3:p.Arg2426Ter;MOLECULAR_CONSEQUENCE=NM_014363.5:c.7276C>T:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spastic_ataxia_Charlevoix-Saguenay_type|Spastic_ataxia_Charlevoix-Saguenay_type;ALL_PMIDS=20301432..24418350..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=unknown;XREFS=GeneReviews:NBK1255|Genetic_Alliance:Spastic+ataxia+Charlevoix-Saguenay+type/6671|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C1849140|OMIM:270550|Office_of_Rare_Diseases:4910|Orphanet:98 -13 51937570 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216892;RCV=RCV000196058;ALLELE_ID=18898;SYMBOL=ATP7B;HGVS_C=NM_000053.3:c.3809A>G;HGVS_P=NP_000044.2:p.Asn1270Ser;MOLECULAR_CONSEQUENCE=NM_000053.3:c.3809A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Wilson_disease|Wilson's_disease;ALL_PMIDS=18506894..20301685..20482602..25326637..27854360;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000|Wilson_disease_is_an_autosomal_recessive_disorder_with_a_prevalence_of_1/30..000..and_a_carrier_frequency_of_1/90.;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1512|Genetic_Alliance:Wilson+disease/7506|Genetic_Testing_Registry_(GTR):GTR000260623|Genetic_Testing_Registry_(GTR):GTR000295690|Genetic_Testing_Registry_(GTR):GTR000313617|Genetic_Testing_Registry_(GTR):GTR000327805|Genetic_Testing_Registry_(GTR):GTR000500144|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):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552345|Genetics_Home_Reference:wilson-disease|MedGen:C0019202|OMIM:277900|Office_of_Rare_Diseases:7893|Orphanet:905|SNOMED_CT:88518009 13 51941111 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3863;RCV=RCV000004067;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Wilson_disease|WILSON_DISEASE;ALL_PMIDS=15845031..18506894..20301685..20482602..27854360;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000|Wilson_disease_is_an_autosomal_recessive_disorder_with_a_prevalence_of_1/30..000..and_a_carrier_frequency_of_1/90.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1512|Genetic_Alliance:Wilson+disease/7506|Genetic_Testing_Registry_(GTR):GTR000260623|Genetic_Testing_Registry_(GTR):GTR000295690|Genetic_Testing_Registry_(GTR):GTR000313617|Genetic_Testing_Registry_(GTR):GTR000327805|Genetic_Testing_Registry_(GTR):GTR000500144|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):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552345|Genetics_Home_Reference:wilson-disease|MedGen:C0019202|OMIM:277900|Office_of_Rare_Diseases:7893|Orphanet:905|SNOMED_CT:88518009 13 51941194 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3863;RCV=RCV000004067;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=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Wilson_disease|WILSON_DISEASE;ALL_PMIDS=15845031..18506894..20301685..20482602..27854360;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000|Wilson_disease_is_an_autosomal_recessive_disorder_with_a_prevalence_of_1/30..000..and_a_carrier_frequency_of_1/90.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1512|Genetic_Alliance:Wilson+disease/7506|Genetic_Testing_Registry_(GTR):GTR000260623|Genetic_Testing_Registry_(GTR):GTR000295690|Genetic_Testing_Registry_(GTR):GTR000313617|Genetic_Testing_Registry_(GTR):GTR000327805|Genetic_Testing_Registry_(GTR):GTR000500144|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):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552345|Genetics_Home_Reference:wilson-disease|MedGen:C0019202|OMIM:277900|Office_of_Rare_Diseases:7893|Orphanet:905|SNOMED_CT:88518009 -13 51946394 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216892;RCV=RCV000196058;ALLELE_ID=213626;SYMBOL=ATP7B;HGVS_C=NM_000053.3:c.2950C>G;HGVS_P=NP_000044.2:p.Pro984Ala;MOLECULAR_CONSEQUENCE=NM_000053.3:c.2950C>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Wilson_disease|Wilson's_disease;ALL_PMIDS=18506894..20301685..20482602..25326637..27854360;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000|Wilson_disease_is_an_autosomal_recessive_disorder_with_a_prevalence_of_1/30..000..and_a_carrier_frequency_of_1/90.;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1512|Genetic_Alliance:Wilson+disease/7506|Genetic_Testing_Registry_(GTR):GTR000260623|Genetic_Testing_Registry_(GTR):GTR000295690|Genetic_Testing_Registry_(GTR):GTR000313617|Genetic_Testing_Registry_(GTR):GTR000327805|Genetic_Testing_Registry_(GTR):GTR000500144|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):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552345|Genetics_Home_Reference:wilson-disease|MedGen:C0019202|OMIM:277900|Office_of_Rare_Diseases:7893|Orphanet:905|SNOMED_CT:88518009 -13 102741045 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=207840;RCV=RCV000190133;ALLELE_ID=204143;SYMBOL=CCDC168;HGVS_C=NM_001146197.1:c.9652A>G;HGVS_P=NP_001139669.1:p.Met3218Val;MOLECULAR_CONSEQUENCE=NM_001146197.1:c.9652A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Long_QT_syndrome|Long_QT_syndrome;ALL_PMIDS=23994779..26132555;INHERITANCE_MODES=Autosomal_dominant_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Long+QT+Syndrome/4296|Genetic_Testing_Registry_(GTR):GTR000323823|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000500471|Genetic_Testing_Registry_(GTR):GTR000500681|Genetic_Testing_Registry_(GTR):GTR000501111|Genetic_Testing_Registry_(GTR):GTR000502615|Genetic_Testing_Registry_(GTR):GTR000511116|Genetic_Testing_Registry_(GTR):GTR000515873|Genetic_Testing_Registry_(GTR):GTR000519089|Genetic_Testing_Registry_(GTR):GTR000519267|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519380|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000519389|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520446|Genetic_Testing_Registry_(GTR):GTR000520456|Genetic_Testing_Registry_(GTR):GTR000520458|Genetic_Testing_Registry_(GTR):GTR000520478|Genetic_Testing_Registry_(GTR):GTR000522197|Genetic_Testing_Registry_(GTR):GTR000522200|Genetic_Testing_Registry_(GTR):GTR000522257|Genetic_Testing_Registry_(GTR):GTR000528336|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000552174|Genetic_Testing_Registry_(GTR):GTR000552322|MeSH:D008133|MedGen:C0023976|OMIM:PS192500|SNOMED_CT:9651007 -13 102746859 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=207840;RCV=RCV000190133;ALLELE_ID=204144;SYMBOL=CCDC168;HGVS_C=NM_001146197.1:c.3838G>A;HGVS_P=NP_001139669.1:p.Glu1280Lys;MOLECULAR_CONSEQUENCE=NM_001146197.1:c.3838G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Long_QT_syndrome|Long_QT_syndrome;ALL_PMIDS=23994779..26132555;INHERITANCE_MODES=Autosomal_dominant_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Long+QT+Syndrome/4296|Genetic_Testing_Registry_(GTR):GTR000323823|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000500471|Genetic_Testing_Registry_(GTR):GTR000500681|Genetic_Testing_Registry_(GTR):GTR000501111|Genetic_Testing_Registry_(GTR):GTR000502615|Genetic_Testing_Registry_(GTR):GTR000511116|Genetic_Testing_Registry_(GTR):GTR000515873|Genetic_Testing_Registry_(GTR):GTR000519089|Genetic_Testing_Registry_(GTR):GTR000519267|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519380|Genetic_Testing_Registry_(GTR):GTR000519387|Genetic_Testing_Registry_(GTR):GTR000519389|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520446|Genetic_Testing_Registry_(GTR):GTR000520456|Genetic_Testing_Registry_(GTR):GTR000520458|Genetic_Testing_Registry_(GTR):GTR000520478|Genetic_Testing_Registry_(GTR):GTR000522197|Genetic_Testing_Registry_(GTR):GTR000522200|Genetic_Testing_Registry_(GTR):GTR000522257|Genetic_Testing_Registry_(GTR):GTR000528336|Genetic_Testing_Registry_(GTR):GTR000528497|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000552174|Genetic_Testing_Registry_(GTR):GTR000552322|MeSH:D008133|MedGen:C0023976|OMIM:PS192500|SNOMED_CT:9651007 13 103049423 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8241;RCV=RCV000008724;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 13 103051290 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8241;RCV=RCV000008724;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 -13 110677007 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=157655;RCV=RCV000170338;ALLELE_ID=167502;SYMBOL=CARS2;HGVS_C=NM_024537.3:c.752C>T;HGVS_P=NP_078813.1:p.Pro251Leu;MOLECULAR_CONSEQUENCE=NM_024537.3:c.752C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Shaikh_Laboratory..University_of_Colorado;ALL_TRAITS=Alpers_encephalopathy|combined_mitochondrial_respiratory_chain_deficiency|_neurological_regression|_complex_movement_disorder|_intractable_seizures|Alpers_encephalopathy;ALL_PMIDS=25787132;ORIGIN=germline;XREFS=MedGen:CN221139 -13 110683054 . GCTC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=157655;RCV=RCV000170338;ALLELE_ID=167501;SYMBOL=CARS2;HGVS_C=NM_024537.3:c.649_651delGAG;HGVS_P=NP_078813.1:p.Glu217del;MOLECULAR_CONSEQUENCE=NM_024537.3:c.649_651delGAG:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Shaikh_Laboratory..University_of_Colorado;ALL_TRAITS=Alpers_encephalopathy|combined_mitochondrial_respiratory_chain_deficiency|_neurological_regression|_complex_movement_disorder|_intractable_seizures|Alpers_encephalopathy;ALL_PMIDS=25787132;ORIGIN=germline;XREFS=MedGen:CN221139 -13 110683054 . GCTC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=157655;RCV=RCV000170338;ALLELE_ID=167501;SYMBOL=CARS2;HGVS_C=NM_024537.3:c.649_651delGAG;HGVS_P=NP_078813.1:p.Glu217del;MOLECULAR_CONSEQUENCE=NM_024537.3:c.649_651delGAG:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Shaikh_Laboratory..University_of_Colorado;ALL_TRAITS=Alpers_encephalopathy|combined_mitochondrial_respiratory_chain_deficiency|_neurological_regression|_complex_movement_disorder|_intractable_seizures|Alpers_encephalopathy;ALL_PMIDS=25787132;ORIGIN=germline;XREFS=MedGen:CN221139 14 28767842 . C G . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=189607;RCV=RCV000170068;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=RettBASE;ALL_TRAITS=not_provided|Not_provided;ORIGIN=de_novo;XREFS=MedGen:CN221809 14 28767923 . TC CT . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=189607;RCV=RCV000170068;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=RettBASE;ALL_TRAITS=not_provided|Not_provided;ORIGIN=de_novo;XREFS=MedGen:CN221809 14 31562125 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=7;RCV=RCV000000017;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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;AGE_OF_ONSET=All_ages;ORIGIN=germline|maternal|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609 @@ -593,40 +398,23 @@ 14 50911730 . CTTTTT AAAAAG . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=38368;RCV=RCV000020505;ALLELE_ID=46930;SYMBOL=PYGL;HGVS_C=NM_002863.4:c.1964_1969invAAAAAG;HGVS_P=NP_002854.3:p.Glu655_Lys656del;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Glycogen_storage_disease..type_VI|Glycogen_Storage_Disease_Type_VI;ALL_PMIDS=17705025..20301760;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=not_provided;XREFS=GeneReviews:NBK5941|Genetic_Alliance:Glycogen+Storage+Disease+Type+6/3126|Genetic_Testing_Registry_(GTR):GTR000500854|Genetic_Testing_Registry_(GTR):GTR000506624|Genetic_Testing_Registry_(GTR):GTR000507589|MedGen:C0017925|OMIM:232700|Office_of_Rare_Diseases:6529|Orphanet:369|SNOMED_CT:237971004|SNOMED_CT:29291001 14 75103841 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=242987;RCV=RCV000234965;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nevus_comedonicus|NEVUS_COMEDONICUS..SOMATIC;ALL_PMIDS=27153399;ORIGIN=somatic;XREFS=MedGen:C0265987|OMIM:617025 14 75103858 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=242987;RCV=RCV000234965;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nevus_comedonicus|NEVUS_COMEDONICUS..SOMATIC;ALL_PMIDS=27153399;ORIGIN=somatic;XREFS=MedGen:C0265987|OMIM:617025 -14 77286815 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224662;RCV=RCV000231660;ALLELE_ID=172251;SYMBOL=POMT2;HGVS_C=NM_013382.5:c.1261C>T;HGVS_P=NP_037514.2:p.Arg421Trp;MOLECULAR_CONSEQUENCE=NM_013382.5:c.1261C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C2;ALL_PMIDS=20301468..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C2/8751|Genetic_Testing_Registry_(GTR):GTR000501340|Genetic_Testing_Registry_(GTR):GTR000501341|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000520475|MedGen:C3150418|OMIM:613158|Orphanet:206559 -14 77291325 . TTA T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224662;RCV=RCV000231660;ALLELE_ID=226478;SYMBOL=POMT2;HGVS_C=NM_013382.5:c.1170_1171delTA;HGVS_P=NP_037514.2:p.His390Glnfs;MOLECULAR_CONSEQUENCE=NM_013382.5:c.1170_1171delTA:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C2;ALL_PMIDS=20301468..27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C2/8751|Genetic_Testing_Registry_(GTR):GTR000501340|Genetic_Testing_Registry_(GTR):GTR000501341|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000520475|MedGen:C3150418|OMIM:613158|Orphanet:206559 14 94381049 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=219354;RCV=RCV000205893;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=Uncertain_significance|other;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency;ALL_PMIDS=15685488..20301692..24121147;INHERITANCE_MODES=Autosomal_recessive_inheritance|Codominant;AGE_OF_ONSET=All_ages;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|Genetic_Testing_Registry_(GTR):GTR000258149|Genetic_Testing_Registry_(GTR):GTR000260627|Genetic_Testing_Registry_(GTR):GTR000320960|Genetic_Testing_Registry_(GTR):GTR000500212|Genetic_Testing_Registry_(GTR):GTR000500302|Genetic_Testing_Registry_(GTR):GTR000500303|Genetic_Testing_Registry_(GTR):GTR000506377|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000519425|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007 +14 94383008 . GAGA G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17972;RCV=RCV000019572;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=PI_M(NICHINAN)|PI_M(NICHINAN);ALL_PMIDS=2309708..6162902;ORIGIN=germline;XREFS=OMIM:107400.0017 14 94383051 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=219354;RCV=RCV000205893;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=Likely_pathogenic|Pathogenic|Uncertain_significance|other;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency;ALL_PMIDS=15685488..20301692..24121147;INHERITANCE_MODES=Autosomal_recessive_inheritance|Codominant;AGE_OF_ONSET=All_ages;PREVALENCE=1-5_/_10_000;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|Genetic_Testing_Registry_(GTR):GTR000258149|Genetic_Testing_Registry_(GTR):GTR000260627|Genetic_Testing_Registry_(GTR):GTR000320960|Genetic_Testing_Registry_(GTR):GTR000500212|Genetic_Testing_Registry_(GTR):GTR000500302|Genetic_Testing_Registry_(GTR):GTR000500303|Genetic_Testing_Registry_(GTR):GTR000506377|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000519425|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007 -15 32628797 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=189391;RCV=RCV000172925;ALLELE_ID=187271;SYMBOL=ARHGAP11A;HGVS_C=NM_014783.5:c.932G>T;HGVS_P=NP_055598.1:p.Arg311Ile;MOLECULAR_CONSEQUENCE=NM_014783.5:c.932G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Abrahams_Lab..Albert_Einstein_College_of_Medicine;ALL_TRAITS=Autism_spectrum_disorders|Macrocephaly|macrocephaly|autism;ALL_PMIDS=20466091..23519317..25190698..26076356;INHERITANCE_MODES=Autosomal_dominant_inheritance|X-linked_dominant_inheritance;ORIGIN=inherited;XREFS=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre:13DG1472|GeneTests:198890|Genetic_Alliance:Autism+Spectrum+Disorders/7767|Genetic_Alliance:Macrocephaly/4387|Genetic_Testing_Registry_(GTR):GTR000295241|Genetic_Testing_Registry_(GTR):GTR000322654|Genetic_Testing_Registry_(GTR):GTR000327662|Genetic_Testing_Registry_(GTR):GTR000331025|Genetic_Testing_Registry_(GTR):GTR000500030|Genetic_Testing_Registry_(GTR):GTR000500249|Genetic_Testing_Registry_(GTR):GTR000500513|Genetic_Testing_Registry_(GTR):GTR000500616|Genetic_Testing_Registry_(GTR):GTR000500624|Genetic_Testing_Registry_(GTR):GTR000500625|Genetic_Testing_Registry_(GTR):GTR000502463|Genetic_Testing_Registry_(GTR):GTR000502464|Genetic_Testing_Registry_(GTR):GTR000503014|Genetic_Testing_Registry_(GTR):GTR000503286|Genetic_Testing_Registry_(GTR):GTR000503288|Genetic_Testing_Registry_(GTR):GTR000505452|Genetic_Testing_Registry_(GTR):GTR000505473|Genetic_Testing_Registry_(GTR):GTR000506042|Genetic_Testing_Registry_(GTR):GTR000508938|Genetic_Testing_Registry_(GTR):GTR000509047|Genetic_Testing_Registry_(GTR):GTR000509356|Genetic_Testing_Registry_(GTR):GTR000519286|Genetic_Testing_Registry_(GTR):GTR000520051|Genetic_Testing_Registry_(GTR):GTR000520907|Genetic_Testing_Registry_(GTR):GTR000520927|Genetic_Testing_Registry_(GTR):GTR000521287|Genetic_Testing_Registry_(GTR):GTR000522222|Genetic_Testing_Registry_(GTR):GTR000525909|Genetic_Testing_Registry_(GTR):GTR000528547|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000531722|Human_Phenotype_Ontology:HP:0000256|Human_Phenotype_Ontology:HP:0005491|Human_Phenotype_Ontology:HP:0005496|Human_Phenotype_Ontology:HP:0200135|MedGen:C1510586|MedGen:C2243051|OMIM:248000|OMIM:PS209850 -15 32635787 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=189391;RCV=RCV000172925;ALLELE_ID=187272;SYMBOL=ARHGAP11A;HGVS_C=NM_014783.5:c.1355C>G;HGVS_P=NP_055598.1:p.Ser452Cys;MOLECULAR_CONSEQUENCE=NM_014783.5:c.1355C>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Abrahams_Lab..Albert_Einstein_College_of_Medicine;ALL_TRAITS=Autism_spectrum_disorders|Macrocephaly|macrocephaly|autism;ALL_PMIDS=20466091..23519317..25190698..26076356;INHERITANCE_MODES=Autosomal_dominant_inheritance|X-linked_dominant_inheritance;ORIGIN=inherited;XREFS=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre:13DG1472|GeneTests:198890|Genetic_Alliance:Autism+Spectrum+Disorders/7767|Genetic_Alliance:Macrocephaly/4387|Genetic_Testing_Registry_(GTR):GTR000295241|Genetic_Testing_Registry_(GTR):GTR000322654|Genetic_Testing_Registry_(GTR):GTR000327662|Genetic_Testing_Registry_(GTR):GTR000331025|Genetic_Testing_Registry_(GTR):GTR000500030|Genetic_Testing_Registry_(GTR):GTR000500249|Genetic_Testing_Registry_(GTR):GTR000500513|Genetic_Testing_Registry_(GTR):GTR000500616|Genetic_Testing_Registry_(GTR):GTR000500624|Genetic_Testing_Registry_(GTR):GTR000500625|Genetic_Testing_Registry_(GTR):GTR000502463|Genetic_Testing_Registry_(GTR):GTR000502464|Genetic_Testing_Registry_(GTR):GTR000503014|Genetic_Testing_Registry_(GTR):GTR000503286|Genetic_Testing_Registry_(GTR):GTR000503288|Genetic_Testing_Registry_(GTR):GTR000505452|Genetic_Testing_Registry_(GTR):GTR000505473|Genetic_Testing_Registry_(GTR):GTR000506042|Genetic_Testing_Registry_(GTR):GTR000508938|Genetic_Testing_Registry_(GTR):GTR000509047|Genetic_Testing_Registry_(GTR):GTR000509356|Genetic_Testing_Registry_(GTR):GTR000519286|Genetic_Testing_Registry_(GTR):GTR000520051|Genetic_Testing_Registry_(GTR):GTR000520907|Genetic_Testing_Registry_(GTR):GTR000520927|Genetic_Testing_Registry_(GTR):GTR000521287|Genetic_Testing_Registry_(GTR):GTR000522222|Genetic_Testing_Registry_(GTR):GTR000525909|Genetic_Testing_Registry_(GTR):GTR000528547|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000531722|Human_Phenotype_Ontology:HP:0000256|Human_Phenotype_Ontology:HP:0005491|Human_Phenotype_Ontology:HP:0005496|Human_Phenotype_Ontology:HP:0200135|MedGen:C1510586|MedGen:C2243051|OMIM:248000|OMIM:PS209850 15 40471616 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2338;RCV=RCV000002428;ALLELE_ID=17377;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..musculocontractural_type|EHLERS-DANLOS_SYNDROME..MUSCULOCONTRACTURAL_TYPE..1;ALL_PMIDS=11666007..20004762;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216|Genetic_Testing_Registry_(GTR):GTR000327667|Genetic_Testing_Registry_(GTR):GTR000501091|Genetic_Testing_Registry_(GTR):GTR000506316|Genetic_Testing_Registry_(GTR):GTR000506317|Genetic_Testing_Registry_(GTR):GTR000552603|Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C1866294|OMIM:601776|Orphanet:2953 15 40471623 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2338;RCV=RCV000002428;ALLELE_ID=38426;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..musculocontractural_type|EHLERS-DANLOS_SYNDROME..MUSCULOCONTRACTURAL_TYPE..1;ALL_PMIDS=11666007..20004762;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216|Genetic_Testing_Registry_(GTR):GTR000327667|Genetic_Testing_Registry_(GTR):GTR000501091|Genetic_Testing_Registry_(GTR):GTR000506316|Genetic_Testing_Registry_(GTR):GTR000506317|Genetic_Testing_Registry_(GTR):GTR000552603|Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C1866294|OMIM:601776|Orphanet:2953 -15 42360025 . C CT . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224659;RCV=RCV000231993;ALLELE_ID=98322;SYMBOL=CAPN3;HGVS_C=NM_000070.2:c.223dupT;HGVS_P=NP_000061.1:p.Tyr75Leufs;MOLECULAR_CONSEQUENCE=NM_000070.2:c.223dupT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2A;ALL_PMIDS=20301490..20301582..27854218..9762961;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_100_000|Rare_-_63_per_million;DISEASE_MECHANISM=loss_of_function;ORIGIN=inherited;XREFS=GeneReviews:NBK1313|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2A/4236|Genetic_Testing_Registry_(GTR):GTR000332444|Genetic_Testing_Registry_(GTR):GTR000502387|Genetic_Testing_Registry_(GTR):GTR000502441|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000511445|Genetic_Testing_Registry_(GTR):GTR000521018|Genetic_Testing_Registry_(GTR):GTR000528277|Genetic_Testing_Registry_(GTR):GTR000530423|MedGen:C1869123|OMIM:253600|Office_of_Rare_Diseases:1057|Orphanet:267 -15 42384492 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216898;RCV=RCV000196140;ALLELE_ID=213633;SYMBOL=CAPN3;HGVS_C=NM_000070.2:c.319G>T;HGVS_P=NP_000061.1:p.Glu107Ter;MOLECULAR_CONSEQUENCE=NM_000070.2:c.319G>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2A|Limb-girdle_muscular_dystrophy..type_2A;ALL_PMIDS=20301490..20301582..25326637..9762961;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_100_000|Rare_-_63_per_million;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1313|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2A/4236|Genetic_Testing_Registry_(GTR):GTR000332444|Genetic_Testing_Registry_(GTR):GTR000502387|Genetic_Testing_Registry_(GTR):GTR000502441|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000511445|Genetic_Testing_Registry_(GTR):GTR000521018|Genetic_Testing_Registry_(GTR):GTR000528277|Genetic_Testing_Registry_(GTR):GTR000530423|MedGen:C1869123|OMIM:253600|Office_of_Rare_Diseases:1057|Orphanet:267 -15 42386226 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224659;RCV=RCV000231993;ALLELE_ID=226480;SYMBOL=CAPN3;HGVS_C=NM_000070.2:c.439C>T;HGVS_P=NP_000061.1:p.Arg147Ter;MOLECULAR_CONSEQUENCE=NM_000070.2:c.439C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2A;ALL_PMIDS=20301490..20301582..27854218..9762961;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_100_000|Rare_-_63_per_million;DISEASE_MECHANISM=loss_of_function;ORIGIN=inherited;XREFS=GeneReviews:NBK1313|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2A/4236|Genetic_Testing_Registry_(GTR):GTR000332444|Genetic_Testing_Registry_(GTR):GTR000502387|Genetic_Testing_Registry_(GTR):GTR000502441|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000511445|Genetic_Testing_Registry_(GTR):GTR000521018|Genetic_Testing_Registry_(GTR):GTR000528277|Genetic_Testing_Registry_(GTR):GTR000530423|MedGen:C1869123|OMIM:253600|Office_of_Rare_Diseases:1057|Orphanet:267 -15 42399617 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216898;RCV=RCV000196140;ALLELE_ID=213634;SYMBOL=CAPN3;HGVS_C=NM_000070.2:c.1319G>A;HGVS_P=NP_000061.1:p.Arg440Gln;MOLECULAR_CONSEQUENCE=NM_000070.2:c.1319G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Limb-girdle_muscular_dystrophy..type_2A|Limb-girdle_muscular_dystrophy..type_2A;ALL_PMIDS=20301490..20301582..25326637..9762961;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_100_000|Rare_-_63_per_million;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1313|Genetic_Alliance:Limb-girdle+muscular+dystrophy%2C+type+2A/4236|Genetic_Testing_Registry_(GTR):GTR000332444|Genetic_Testing_Registry_(GTR):GTR000502387|Genetic_Testing_Registry_(GTR):GTR000502441|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000511445|Genetic_Testing_Registry_(GTR):GTR000521018|Genetic_Testing_Registry_(GTR):GTR000528277|Genetic_Testing_Registry_(GTR):GTR000530423|MedGen:C1869123|OMIM:253600|Office_of_Rare_Diseases:1057|Orphanet:267 -15 43604408 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236066;RCV=RCV000225080;ALLELE_ID=175969;SYMBOL=STRC;HGVS_C=NM_153700.2:c.4171C>G;HGVS_P=NP_714544.1:p.Arg1391Gly;MOLECULAR_CONSEQUENCE=NM_153700.2:c.4171C>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_dominant_16;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Gene:1694|MedGen:C1858916|OMIM:603964|Orphanet:90635 -15 43604720 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236066;RCV=RCV000225080;ALLELE_ID=237617;SYMBOL=STRC;HGVS_C=NM_153700.2:c.4057C>T;HGVS_P=NP_714544.1:p.Gln1353Ter;MOLECULAR_CONSEQUENCE=NM_153700.2:c.4057C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_dominant_16;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Gene:1694|MedGen:C1858916|OMIM:603964|Orphanet:90635 15 44565997 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=252959;RCV=RCV000239393;ALLELE_ID=49777;SYMBOL=SPG11;HGVS_C=NM_025137.3:c.6856C>T;HGVS_P=NP_079413.3:p.Arg2286Ter;MOLECULAR_CONSEQUENCE=NM_025137.3:c.6856C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Faculty_of_Science..Laboratory_of_Drosophila_Research..School_of_Life_Sciences..The_Chinese_University_of_Hong_Kong..Hong_Kong;ALL_TRAITS=Spastic_paraplegia_11..autosomal_recessive;ALL_PMIDS=20301389..25741868;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1210|Genetic_Alliance:Spastic+paraplegia+11/6677|Genetics_Home_Reference:spastic-paraplegia-type-11|MedGen:C1858479|OMIM:604360|Office_of_Rare_Diseases:4919|Orphanet:2822 15 44622723 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=252959;RCV=RCV000239393;ALLELE_ID=247360;SYMBOL=SPG11;HGVS_C=NM_025137.3:c.2316+5G>A;MOLECULAR_CONSEQUENCE=NM_025137.3:c.2316+5G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Faculty_of_Science..Laboratory_of_Drosophila_Research..School_of_Life_Sciences..The_Chinese_University_of_Hong_Kong..Hong_Kong;ALL_TRAITS=Spastic_paraplegia_11..autosomal_recessive;ALL_PMIDS=20301389..25741868;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1210|Genetic_Alliance:Spastic+paraplegia+11/6677|Genetics_Home_Reference:spastic-paraplegia-type-11|MedGen:C1858479|OMIM:604360|Office_of_Rare_Diseases:4919|Orphanet:2822 -15 48229199 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216998;RCV=RCV000200351;ALLELE_ID=213635;SYMBOL=SLC12A1;HGVS_C=NM_000338.2:c.735C>G;HGVS_P=NP_000329.2:p.Tyr245Ter;MOLECULAR_CONSEQUENCE=NM_000338.2:c.735C>G:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Bartter_syndrome..type_1..antenatal|Bartter_syndrome_antenatal_type_1;ALL_PMIDS=25326637;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C1866495|OMIM:601678|Orphanet:112 -15 48246978 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216998;RCV=RCV000200351;ALLELE_ID=213636;SYMBOL=SLC12A1;HGVS_C=NM_000338.2:c.1522G>A;HGVS_P=NP_000329.2:p.Ala508Thr;MOLECULAR_CONSEQUENCE=NM_000338.2:c.1522G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Bartter_syndrome..type_1..antenatal|Bartter_syndrome_antenatal_type_1;ALL_PMIDS=25326637;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C1866495|OMIM:601678|Orphanet:112 15 50490429 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=161994;RCV=RCV000149419;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health;ALL_TRAITS=Pituitary_dependent_hypercortisolism|Pituitary_dependent_hypercortisolism;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=somatic;XREFS=Genetic_Alliance:Pituitary+dependent+hypercortisolism/9118|MedGen:C0221406|OMIM:219090|OMIM:605555.0008|Orphanet:96253|SNOMED_CT:190502001 15 50490441 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=161994;RCV=RCV000149419;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health;ALL_TRAITS=Pituitary_dependent_hypercortisolism|Pituitary_dependent_hypercortisolism;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=somatic;XREFS=Genetic_Alliance:Pituitary+dependent+hypercortisolism/9118|MedGen:C0221406|OMIM:219090|OMIM:605555.0008|Orphanet:96253|SNOMED_CT:190502001 -15 50958492 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=224506;RCV=RCV000210065;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Stuttering..familial_persistent_1|STUTTERING..FAMILIAL_PERSISTENT..1;ALL_PMIDS=23239121..26544806;ORIGIN=germline;XREFS=Gene:100049541|MedGen:C0038131|OMIM:184450 -15 50997380 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=224506;RCV=RCV000210065;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Stuttering..familial_persistent_1|STUTTERING..FAMILIAL_PERSISTENT..1;ALL_PMIDS=23239121..26544806;ORIGIN=germline;XREFS=Gene:100049541|MedGen:C0038131|OMIM:184450 -15 68208238 . GCCAGGCGAC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202195;RCV=RCV000184041;ALLELE_ID=198635;SYMBOL=CLN6;HGVS_C=NM_017882.2:c.829_837delGTCGCCTGG;HGVS_P=NP_060352.1:p.Val277_Trp279del;MOLECULAR_CONSEQUENCE=NM_017882.2:c.829_837delGTCGCCTGG:inframe_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_6|Ceroid_lipofuscinosis_neuronal_6;ALL_PMIDS=11727201..12673792..20301601;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1428|Genetic_Alliance:Ceroid+Lipofuscinosis+Neuronal+6/1257|MedGen:C1866282|OMIM:601780|Office_of_Rare_Diseases:1224|Orphanet:168491 -15 68211697 . TTGA T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202195;RCV=RCV000184041;ALLELE_ID=19122;SYMBOL=CLN6;HGVS_C=NM_017882.2:c.460_462delATC;HGVS_P=NP_060352.1:p.Ile154del;MOLECULAR_CONSEQUENCE=NM_017882.2:c.460_462delATC:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_6|Ceroid_lipofuscinosis_neuronal_6;ALL_PMIDS=11727201..12673792..20301601;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1428|Genetic_Alliance:Ceroid+Lipofuscinosis+Neuronal+6/1257|MedGen:C1866282|OMIM:601780|Office_of_Rare_Diseases:1224|Orphanet:168491 +15 50958492 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=224506;RCV=RCV000210065;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Stuttering..familial_persistent_1|STUTTERING..FAMILIAL_PERSISTENT..1;ALL_PMIDS=23239121..26544806;ORIGIN=germline;XREFS=Gene:100049541|MedGen:C3489627|OMIM:184450 +15 50997380 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=224506;RCV=RCV000210065;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Stuttering..familial_persistent_1|STUTTERING..FAMILIAL_PERSISTENT..1;ALL_PMIDS=23239121..26544806;ORIGIN=germline;XREFS=Gene:100049541|MedGen:C3489627|OMIM:184450 15 72351207 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3923;RCV=RCV000004129;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Tay-Sachs_disease..B1_variant|TAY-SACHS_DISEASE..B1_VARIANT;ALL_PMIDS=1415222..2976595..8198136..8659543;ORIGIN=germline;XREFS=MedGen:C1848916 15 72351231 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3923;RCV=RCV000004129;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Tay-Sachs_disease..B1_variant|TAY-SACHS_DISEASE..B1_VARIANT;ALL_PMIDS=1415222..2976595..8198136..8659543;ORIGIN=germline;XREFS=MedGen:C1848916 -15 84647908 . GC G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208973;RCV=RCV000201418;ALLELE_ID=205480;SYMBOL=WDR73;HGVS_C=NM_032856.3:c.333delG;HGVS_P=NP_116245.2:p.Trp111Cysfs;MOLECULAR_CONSEQUENCE=NM_032856.3:c.333delG:frameshift_variant|NR_130944.1:n.839delG:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -15 84647949 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208973;RCV=RCV000201418;ALLELE_ID=205481;SYMBOL=WDR73;HGVS_C=NM_032856.3:c.293T>C;HGVS_P=NP_116245.2:p.Leu98Pro;MOLECULAR_CONSEQUENCE=NM_032856.3:c.293T>C:missense_variant|NR_130944.1:n.799T>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 15 89321166 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=268094;RCV=RCV000258814;ALLELE_ID=263528;SYMBOL=POLG;HGVS_C=NM_002693.2:c.2693T>C;HGVS_P=NP_002684.1:p.Ile898Thr;MOLECULAR_CONSEQUENCE=NM_002693.2:c.2693T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Sensory_ataxic_neuropathy..dysarthria..and_ophthalmoparesis;ALL_PMIDS=20301791..25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=inherited;XREFS=GeneReviews:NBK26471|Genetic_Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505|Genetic_Testing_Registry_(GTR):GTR000503087|Genetic_Testing_Registry_(GTR):GTR000508492|Genetic_Testing_Registry_(GTR):GTR000528329|Genetic_Testing_Registry_(GTR):GTR000529356|Genetic_Testing_Registry_(GTR):GTR000529458|Genetic_Testing_Registry_(GTR):GTR000552388|MedGen:C1843851|OMIM:607459|Office_of_Rare_Diseases:9998|Orphanet:254818 -15 89321780 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216983;RCV=RCV000196524;ALLELE_ID=202960;SYMBOL=POLG;HGVS_C=NM_002693.2:c.2554C>T;HGVS_P=NP_002684.1:p.Arg852Cys;MOLECULAR_CONSEQUENCE=NM_002693.2:c.2554C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Cerebellar_ataxia_infantile_with_progressive_external_ophthalmoplegia|Sensory_ataxic_neuropathy..dysarthria..and_ophthalmoparesis|Sensory_ataxic_neuropathy..dysarthria..and_ophthalmoparesis|Cerebellar_ataxia_infantile_with_progressive_external_ophthalmoplegia;ALL_PMIDS=20301791..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;ORIGIN=unknown;XREFS=GeneReviews:NBK26471|Genetic_Alliance:Cerebellar+Ataxia+Infantile+with+Progressive+External+Ophthalmoplegia/1206|Genetic_Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505|Genetic_Testing_Registry_(GTR):GTR000503087|Genetic_Testing_Registry_(GTR):GTR000508492|Genetic_Testing_Registry_(GTR):GTR000528329|Genetic_Testing_Registry_(GTR):GTR000529356|Genetic_Testing_Registry_(GTR):GTR000529458|Genetic_Testing_Registry_(GTR):GTR000552388|MedGen:C1843851|MedGen:C1850303|OMIM:174763.0002|OMIM:174763.0003|OMIM:174763.0004|OMIM:174763.0006|OMIM:174763.0007|OMIM:174763.0011|OMIM:174763.0018|OMIM:174763.0019|OMIM:258450|OMIM:607459|Office_of_Rare_Diseases:1191|Office_of_Rare_Diseases:9998|Orphanet:254818|Orphanet:254886 15 89323426 . C G . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=157526;RCV=RCV000144870;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|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;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 15 89327006 . C G . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=157526;RCV=RCV000144870;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=Pathogenic|Uncertain_significance;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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;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 15 89329042 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=268094;RCV=RCV000258814;ALLELE_ID=263529;SYMBOL=POLG;HGVS_C=NM_002693.2:c.924G>T;HGVS_P=NP_002684.1:p.Gln308His;MOLECULAR_CONSEQUENCE=NM_002693.2:c.924G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Sensory_ataxic_neuropathy..dysarthria..and_ophthalmoparesis;ALL_PMIDS=20301791..25741868;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=inherited;XREFS=GeneReviews:NBK26471|Genetic_Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505|Genetic_Testing_Registry_(GTR):GTR000503087|Genetic_Testing_Registry_(GTR):GTR000508492|Genetic_Testing_Registry_(GTR):GTR000528329|Genetic_Testing_Registry_(GTR):GTR000529356|Genetic_Testing_Registry_(GTR):GTR000529458|Genetic_Testing_Registry_(GTR):GTR000552388|MedGen:C1843851|OMIM:607459|Office_of_Rare_Diseases:9998|Orphanet:254818 -15 89333723 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216983;RCV=RCV000196524;ALLELE_ID=192343;SYMBOL=POLG;HGVS_C=NM_002693.2:c.32G>A;HGVS_P=NP_002684.1:p.Gly11Asp;MOLECULAR_CONSEQUENCE=NM_002693.2:c.32G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Cerebellar_ataxia_infantile_with_progressive_external_ophthalmoplegia|Sensory_ataxic_neuropathy..dysarthria..and_ophthalmoparesis|Sensory_ataxic_neuropathy..dysarthria..and_ophthalmoparesis|Cerebellar_ataxia_infantile_with_progressive_external_ophthalmoplegia;ALL_PMIDS=20301791..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;ORIGIN=unknown;XREFS=GeneReviews:NBK26471|Genetic_Alliance:Cerebellar+Ataxia+Infantile+with+Progressive+External+Ophthalmoplegia/1206|Genetic_Alliance:Sensory+ataxic+neuropathy%2C+dysarthria%2C+and+ophthalmoparesis/6505|Genetic_Testing_Registry_(GTR):GTR000503087|Genetic_Testing_Registry_(GTR):GTR000508492|Genetic_Testing_Registry_(GTR):GTR000528329|Genetic_Testing_Registry_(GTR):GTR000529356|Genetic_Testing_Registry_(GTR):GTR000529458|Genetic_Testing_Registry_(GTR):GTR000552388|MedGen:C1843851|MedGen:C1850303|OMIM:174763.0002|OMIM:174763.0003|OMIM:174763.0004|OMIM:174763.0006|OMIM:174763.0007|OMIM:174763.0011|OMIM:174763.0018|OMIM:174763.0019|OMIM:258450|OMIM:607459|Office_of_Rare_Diseases:1191|Office_of_Rare_Diseases:9998|Orphanet:254818|Orphanet:254886 15 91005693 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375263;RCV=RCV000416361;ALLELE_ID=361964;SYMBOL=VPS33B;HGVS_C=NM_018668.4:c.1030+1G>T;MOLECULAR_CONSEQUENCE=NM_018668.4:c.1030+1G>T:splice_donor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Arthrogryposis_renal_dysfunction_cholestasis_syndrome;ALL_PMIDS=25741868;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=Genetic_Alliance:Arthrogryposis+Renal+Dysfunction+Cholestasis+Syndrome/613|MedGen:C1859722|OMIM:208085|Office_of_Rare_Diseases:794|Orphanet:2697 15 91013842 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=375263;RCV=RCV000416361;ALLELE_ID=361965;SYMBOL=VPS33B;HGVS_C=NM_018668.4:c.319C>T;HGVS_P=NP_061138.3:p.Arg107Ter;MOLECULAR_CONSEQUENCE=NM_018668.4:c.319C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Shenzhen_Institute_of_Pediatrics..Shenzhen_Children's_Hospital;ALL_TRAITS=Arthrogryposis_renal_dysfunction_cholestasis_syndrome;ALL_PMIDS=25741868;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=Genetic_Alliance:Arthrogryposis+Renal+Dysfunction+Cholestasis+Syndrome/613|MedGen:C1859722|OMIM:208085|Office_of_Rare_Diseases:794|Orphanet:2697 16 177068 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=15762;RCV=RCV000017073;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HEMOGLOBIN_J_(SINGAPORE)|HEMOGLOBIN_J_(SINGAPORE);ALL_PMIDS=5085670;ORIGIN=germline;XREFS=OMIM:141800.0075 @@ -635,25 +423,17 @@ 16 1204369 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2704;RCV=RCV000002823;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Epilepsy..childhood_absence_6|EPILEPSY..CHILDHOOD_ABSENCE..SUSCEPTIBILITY_TO..6;ALL_PMIDS=12891677..15888660;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+childhood+absence+6/8325|MedGen:C2749872|OMIM:611942|Orphanet:64280 16 1495524 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236230;RCV=RCV000225207;ALLELE_ID=237798;SYMBOL=TELO2;HGVS_C=NM_016111.3:c.514C>T;HGVS_P=NP_057195.2:p.Gln172Ter;MOLECULAR_CONSEQUENCE=NM_016111.3:c.514C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=You-Hoover-Fong_syndrome|YOU-HOOVER-FONG_SYNDROME;ALL_PMIDS=27132593;ORIGIN=germline;XREFS=MedGen:CN236793|OMIM:616954 16 1505602 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236230;RCV=RCV000225207;ALLELE_ID=237812;SYMBOL=TELO2;HGVS_C=NM_016111.3:c.2034+1G>A;MOLECULAR_CONSEQUENCE=NM_016111.3:c.2034+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=You-Hoover-Fong_syndrome|YOU-HOOVER-FONG_SYNDROME;ALL_PMIDS=27132593;ORIGIN=germline;XREFS=MedGen:CN236793|OMIM:616954 -16 2060650 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65347;RCV=RCV000055571;ALLELE_ID=76281;SYMBOL=TSC2;HGVS_C=NM_000548.4:c.976-20T>A;MOLECULAR_CONSEQUENCE=NM_000548.4:c.976-20T>A:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=20301399..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 +16 2060650 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65347;RCV=RCV000055571;ALLELE_ID=76281;SYMBOL=TSC2;HGVS_C=NM_000548.4:c.976-20T>A;MOLECULAR_CONSEQUENCE=NM_000548.4:c.976-20T>A:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=20301399..23519317..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 16 2081728 . C CCTGTACAAGTCA . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=64881;RCV=RCV000055081;ALLELE_ID=75810;SYMBOL=TSC2;HGVS_C=NM_000548.4:c.3745_3756dupCTGTACAAGTCA;HGVS_P=NP_000539.2:p.Leu1253_Ser1254insTyrLysSerLeu;MOLECULAR_CONSEQUENCE=NM_000548.4:c.3745_3756dupCTGTACAAGTCA:inframe_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=15798777..20301399..23519317..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 -16 2084578 . GCC G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65324;RCV=RCV000055548;ALLELE_ID=76256;SYMBOL=TSC2;HGVS_C=NM_000548.4:c.4358_4359delCC;HGVS_P=NP_000539.2:p.Pro1453Glnfs;MOLECULAR_CONSEQUENCE=NM_000548.4:c.4358_4359delCC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=11468687..20301399..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 -16 2084582 . AGTGGCCTCCGGC A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65324;RCV=RCV000055548;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=11468687..20301399..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 -16 2085278 . TACGACACCC T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65183;RCV=RCV000055400;ALLELE_ID=76115;SYMBOL=TSC2;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=20301399..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 -16 2496486 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=212790;RCV=RCV000196831;ALLELE_ID=209423;SYMBOL=TBC1D24;HGVS_C=NM_020705.2:c.338C>A;HGVS_P=NP_065756.1:p.Ala113Asp;MOLECULAR_CONSEQUENCE=NM_001199107.1:c.338C>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=Myoclonic_epilepsy..familial_infantile|epileptic_encephalopathy|Myoclonic_epilepsy..familial_infantile;ALL_PMIDS=25719194;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Gene:54119|GeneReviews:NBK274566|Genetic_Alliance:Myoclonic+epilepsy%2C+familial+infantile/8939|MedGen:C0917800|OMIM:605021|Orphanet:352582 -16 2496624 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=212790;RCV=RCV000196831;ALLELE_ID=209424;SYMBOL=TBC1D24;HGVS_C=NM_020705.2:c.476T>C;HGVS_P=NP_065756.1:p.Leu159Pro;MOLECULAR_CONSEQUENCE=NM_001199107.1:c.476T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=Myoclonic_epilepsy..familial_infantile|epileptic_encephalopathy|Myoclonic_epilepsy..familial_infantile;ALL_PMIDS=25719194;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Gene:54119|GeneReviews:NBK274566|Genetic_Alliance:Myoclonic+epilepsy%2C+familial+infantile/8939|MedGen:C0917800|OMIM:605021|Orphanet:352582 -16 2499864 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217013;RCV=RCV000200681;ALLELE_ID=213638;SYMBOL=TBC1D24;HGVS_C=NM_001199107.1:c.1236G>C;HGVS_P=NP_001186036.1:p.Trp412Cys;MOLECULAR_CONSEQUENCE=NM_001199107.1:c.1236G>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Digitorenocerebral_syndrome|Myoclonic_epilepsy..familial_infantile|Early_infantile_epileptic_encephalopathy_16|Digitorenocerebral_syndrome|Early_infantile_epileptic_encephalopathy_16|Myoclonic_epilepsy..familial_infantile;ALL_PMIDS=25326637..25719194;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Gene:54119|GeneReviews:NBK274566|Genetic_Alliance:Digitorenocerebral+Syndrome/2280|Genetic_Alliance:Myoclonic+epilepsy%2C+familial+infantile/8939|Genetic_Testing_Registry_(GTR):GTR000522937|MedGen:C0917800|MedGen:C1857345|MedGen:C3809173|OMIM:220500|OMIM:222760|OMIM:605021|OMIM:613577.0007|OMIM:613577.0008|OMIM:613577.0009|OMIM:613577.0010|OMIM:613577.0011|OMIM:615338|Office_of_Rare_Diseases:1864|Orphanet:293181|Orphanet:3231|Orphanet:352582|Orphanet:352596|Orphanet:79500 -16 2499916 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217013;RCV=RCV000200681;ALLELE_ID=213639;SYMBOL=TBC1D24;HGVS_C=NM_001199107.1:c.1288T>C;HGVS_P=NP_001186036.1:p.Cys430Arg;MOLECULAR_CONSEQUENCE=NM_001199107.1:c.1288T>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Digitorenocerebral_syndrome|Myoclonic_epilepsy..familial_infantile|Early_infantile_epileptic_encephalopathy_16|Digitorenocerebral_syndrome|Early_infantile_epileptic_encephalopathy_16|Myoclonic_epilepsy..familial_infantile;ALL_PMIDS=25326637..25719194;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Gene:54119|GeneReviews:NBK274566|Genetic_Alliance:Digitorenocerebral+Syndrome/2280|Genetic_Alliance:Myoclonic+epilepsy%2C+familial+infantile/8939|Genetic_Testing_Registry_(GTR):GTR000522937|MedGen:C0917800|MedGen:C1857345|MedGen:C3809173|OMIM:220500|OMIM:222760|OMIM:605021|OMIM:613577.0007|OMIM:613577.0008|OMIM:613577.0009|OMIM:613577.0010|OMIM:613577.0011|OMIM:615338|Office_of_Rare_Diseases:1864|Orphanet:293181|Orphanet:3231|Orphanet:352582|Orphanet:352596|Orphanet:79500 -16 3243257 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216960;RCV=RCV000196026;ALLELE_ID=17587;SYMBOL=MEFV;HGVS_C=NM_000243.2:c.2230G>T;HGVS_P=NP_000234.1:p.Ala744Ser;MOLECULAR_CONSEQUENCE=NM_000243.2:c.2230G>T:missense_variant|NM_001198536.1:c.*434G>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Familial_Mediterranean_fever|Familial_Mediterranean_fever;ALL_PMIDS=10090880..10612841..10842288..12384939..12955725..14578331..15024744..16120953..16439335..16614989..16802374..17489852..17566872..17665427..19253030..19449169..20041150..20165923..20301405..20534143..20645115..21413889..23742958..25326637..25628446..9668175;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=>1_/_1000;DISEASE_MECHANISM=gain_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1227|Genetic_Alliance:Familial+Mediterranean+fever/2756|Genetic_Testing_Registry_(GTR):GTR000317682|Genetic_Testing_Registry_(GTR):GTR000320963|Genetic_Testing_Registry_(GTR):GTR000327767|Genetic_Testing_Registry_(GTR):GTR000501207|Genetic_Testing_Registry_(GTR):GTR000501486|Genetic_Testing_Registry_(GTR):GTR000506386|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000508733|Genetic_Testing_Registry_(GTR):GTR000508985|Genetic_Testing_Registry_(GTR):GTR000523787|Genetic_Testing_Registry_(GTR):GTR000528905|Genetic_Testing_Registry_(GTR):GTR000529138|Genetic_Testing_Registry_(GTR):GTR000530037|Genetic_Testing_Registry_(GTR):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552054|MedGen:C0031069|OMIM:249100|Office_of_Rare_Diseases:6421|Orphanet:342|SNOMED_CT:12579009 -16 3243403 . T C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216960;RCV=RCV000196026;ALLELE_ID=17586;SYMBOL=MEFV;HGVS_C=NM_000243.2:c.2084A>G;HGVS_P=NP_000234.1:p.Lys695Arg;MOLECULAR_CONSEQUENCE=NM_000243.2:c.2084A>G:missense_variant|NM_001198536.1:c.*288A>G:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic|Uncertain_significance|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Familial_Mediterranean_fever|Familial_Mediterranean_fever;ALL_PMIDS=10090880..10612841..10842288..12384939..12955725..14578331..15024744..16120953..16439335..16614989..16802374..17489852..17566872..17665427..19253030..19449169..20041150..20165923..20301405..20534143..20645115..21413889..23742958..25326637..25628446..9668175;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=>1_/_1000;DISEASE_MECHANISM=gain_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1227|Genetic_Alliance:Familial+Mediterranean+fever/2756|Genetic_Testing_Registry_(GTR):GTR000317682|Genetic_Testing_Registry_(GTR):GTR000320963|Genetic_Testing_Registry_(GTR):GTR000327767|Genetic_Testing_Registry_(GTR):GTR000501207|Genetic_Testing_Registry_(GTR):GTR000501486|Genetic_Testing_Registry_(GTR):GTR000506386|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000508733|Genetic_Testing_Registry_(GTR):GTR000508985|Genetic_Testing_Registry_(GTR):GTR000523787|Genetic_Testing_Registry_(GTR):GTR000528905|Genetic_Testing_Registry_(GTR):GTR000529138|Genetic_Testing_Registry_(GTR):GTR000530037|Genetic_Testing_Registry_(GTR):GTR000552033|Genetic_Testing_Registry_(GTR):GTR000552054|MedGen:C0031069|OMIM:249100|Office_of_Rare_Diseases:6421|Orphanet:342|SNOMED_CT:12579009 +16 2084578 . GCC G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65324;RCV=RCV000055548;ALLELE_ID=76256;SYMBOL=TSC2;HGVS_C=NM_000548.4:c.4358_4359delCC;HGVS_P=NP_000539.2:p.Pro1453Glnfs;MOLECULAR_CONSEQUENCE=NM_000548.4:c.4358_4359delCC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=11468687..20301399..23519317..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 +16 2084582 . AGTGGCCTCCGGC A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65324;RCV=RCV000055548;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=11468687..20301399..23519317..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 +16 2085278 . TACGACACCC T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=65183;RCV=RCV000055400;ALLELE_ID=76115;SYMBOL=TSC2;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=20301399..23519317..23788249;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000 16 3243405 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2555;RCV=RCV000002664;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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..20534143..9668175;AGE_OF_ONSET=Adolescent;PREVALENCE=>1_/_1000;ORIGIN=germline;XREFS=Genetic_Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401|MedGen:C1851347|OMIM:134610|Orphanet:342 16 3254626 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2555;RCV=RCV000002664;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=Benign|Likely_benign|Pathogenic|Uncertain_significance;PATHOGENIC=1;BENIGN=1;CONFLICTED=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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..20534143..9668175;AGE_OF_ONSET=Adolescent;PREVALENCE=>1_/_1000;ORIGIN=germline;XREFS=Genetic_Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401|MedGen:C1851347|OMIM:134610|Orphanet:342 16 14593355 . A AT . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=180663;RCV=RCV000162315;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;ALL_TRAITS=Dyskeratosis_congenita|Dyskeratosis_congenita;ALL_PMIDS=20301779;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK22301|Genetic_Alliance:Dyskeratosis+congenita/9566|Genetic_Testing_Registry_(GTR):GTR000500027|Genetic_Testing_Registry_(GTR):GTR000501116|Genetic_Testing_Registry_(GTR):GTR000514651|Genetic_Testing_Registry_(GTR):GTR000519421|Genetic_Testing_Registry_(GTR):GTR000520395|Genetic_Testing_Registry_(GTR):GTR000520398|Genetic_Testing_Registry_(GTR):GTR000525856|Genetic_Testing_Registry_(GTR):GTR000528069|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000529459|Genetic_Testing_Registry_(GTR):GTR000551316|Genetic_Testing_Registry_(GTR):GTR000552115|MedGen:C0265965|OMIM:PS127550|SNOMED_CT:74911008 16 14608273 . ATACT A . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=180663;RCV=RCV000162315;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;ALL_TRAITS=Dyskeratosis_congenita|Dyskeratosis_congenita;ALL_PMIDS=20301779;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=germline;XREFS=GeneReviews:NBK22301|Genetic_Alliance:Dyskeratosis+congenita/9566|Genetic_Testing_Registry_(GTR):GTR000500027|Genetic_Testing_Registry_(GTR):GTR000501116|Genetic_Testing_Registry_(GTR):GTR000514651|Genetic_Testing_Registry_(GTR):GTR000519421|Genetic_Testing_Registry_(GTR):GTR000520395|Genetic_Testing_Registry_(GTR):GTR000520398|Genetic_Testing_Registry_(GTR):GTR000525856|Genetic_Testing_Registry_(GTR):GTR000528069|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000529459|Genetic_Testing_Registry_(GTR):GTR000551316|Genetic_Testing_Registry_(GTR):GTR000552115|MedGen:C0265965|OMIM:PS127550|SNOMED_CT:74911008 16 15718337 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14131;RCV=RCV000015192;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=14722581..16444274..20301299..23788249..24882528..25173340..25356965..27854360;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetic_Testing_Registry_(GTR):GTR000500400|Genetic_Testing_Registry_(GTR):GTR000500403|Genetic_Testing_Registry_(GTR):GTR000512363|Genetic_Testing_Registry_(GTR):GTR000523358|Genetic_Testing_Registry_(GTR):GTR000523829|Genetic_Testing_Registry_(GTR):GTR000525815|Genetic_Testing_Registry_(GTR):GTR000525817|Genetic_Testing_Registry_(GTR):GTR000525822|Genetic_Testing_Registry_(GTR):GTR000525925|Genetic_Testing_Registry_(GTR):GTR000528386|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876 16 15721421 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14131;RCV=RCV000015192;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=14722581..16444274..20301299..23788249..24882528..25173340..25356965..27854360;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetic_Testing_Registry_(GTR):GTR000500400|Genetic_Testing_Registry_(GTR):GTR000500403|Genetic_Testing_Registry_(GTR):GTR000512363|Genetic_Testing_Registry_(GTR):GTR000523358|Genetic_Testing_Registry_(GTR):GTR000523829|Genetic_Testing_Registry_(GTR):GTR000525815|Genetic_Testing_Registry_(GTR):GTR000525817|Genetic_Testing_Registry_(GTR):GTR000525822|Genetic_Testing_Registry_(GTR):GTR000525925|Genetic_Testing_Registry_(GTR):GTR000528386|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876 -16 30186646 . CCT C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=219014;RCV=RCV000203415;ALLELE_ID=49379;SYMBOL=CORO1A;HGVS_C=NM_007074.3:c.248_249delCT;HGVS_P=NP_009005.1:p.Pro83Argfs;MOLECULAR_CONSEQUENCE=NM_001193333.2:c.248_249delCT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Immunodeficiency_8;ALL_PMIDS=25073507;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:C3809383|OMIM:615401|Orphanet:228003 -16 30188371 . TC T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=219014;RCV=RCV000203415;ALLELE_ID=167370;SYMBOL=CORO1A;HGVS_C=NM_007074.3:c.1078delC;HGVS_P=NP_009005.1:p.Gln360Argfs;MOLECULAR_CONSEQUENCE=NM_001193333.2:c.1078delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Immunodeficiency_8;ALL_PMIDS=25073507;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=inherited;XREFS=MedGen:C3809383|OMIM:615401|Orphanet:228003 16 47696408 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13621;RCV=RCV000014591;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Glycogen_storage_disease_IXb|GLYCOGEN_STORAGE_DISEASE_IXb;ALL_PMIDS=21634085..9215682;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=GeneReviews:NBK55061|Genetic_Alliance:Glycogen+storage+disease+IXb/8483|MedGen:C1849812|OMIM:261750|Orphanet:79240 16 47696411 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13621;RCV=RCV000014591;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Glycogen_storage_disease_IXb|GLYCOGEN_STORAGE_DISEASE_IXb;ALL_PMIDS=21634085..9215682;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=GeneReviews:NBK55061|Genetic_Alliance:Glycogen+storage+disease+IXb/8483|MedGen:C1849812|OMIM:261750|Orphanet:79240 16 56868355 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8596;RCV=RCV000009127;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Familial_hypokalemia-hypomagnesemia|GITELMAN_SYNDROME;ALL_PMIDS=17000984..21343949;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Familial+hypokalemia-hypomagnesemia/8399|MedGen:C0268450|OMIM:263800|Orphanet:358|SNOMED_CT:3188003 @@ -662,15 +442,11 @@ 16 56894594 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=8596;RCV=RCV000009127;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Familial_hypokalemia-hypomagnesemia|GITELMAN_SYNDROME;ALL_PMIDS=17000984..21343949;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Familial+hypokalemia-hypomagnesemia/8399|MedGen:C0268450|OMIM:263800|Orphanet:358|SNOMED_CT:3188003 16 67942567 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3667;RCV=RCV000003852;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Norum_disease|LCAT_DEFICIENCY;ALL_PMIDS=8432868;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Norum+disease/5271|MedGen:C0023195|OMIM:245900|Office_of_Rare_Diseases:4011|Orphanet:650|Orphanet:79293 16 67942939 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3667;RCV=RCV000003852;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Norum_disease|LCAT_DEFICIENCY;ALL_PMIDS=8432868;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Norum+disease/5271|MedGen:C0023195|OMIM:245900|Office_of_Rare_Diseases:4011|Orphanet:650|Orphanet:79293 -16 74774586 . T TCCTGGCCCGC . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202189;RCV=RCV000184035;ALLELE_ID=198636;SYMBOL=FA2H;HGVS_C=NM_024306.4:c.150_159dupGCGGGCCAGG;HGVS_P=NP_077282.3:p.Asp57Glyfs;MOLECULAR_CONSEQUENCE=NM_024306.4:c.150_159dupGCGGGCCAGG:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Spastic_paraplegia_35|Spastic_paraplegia_35;ALL_PMIDS=21735565;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK56080|Genetic_Alliance:Leukodystrophy%2C+dysmyelinating%2C+and+spastic+paraparesis+with+or+without+dystonia/4201|MedGen:C3668943|OMIM:611026.0001|OMIM:611026.0002|OMIM:611026.0003|OMIM:611026.0004|OMIM:611026.0005|OMIM:611026.0006|OMIM:611026.0007|OMIM:611026.0008|OMIM:612319|Orphanet:171629 -16 74774639 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=202189;RCV=RCV000184035;ALLELE_ID=198637;SYMBOL=FA2H;HGVS_C=NM_024306.4:c.117C>A;HGVS_P=NP_077282.3:p.Phe39Leu;MOLECULAR_CONSEQUENCE=NM_024306.4:c.117C>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Spastic_paraplegia_35|Spastic_paraplegia_35;ALL_PMIDS=21735565;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK56080|Genetic_Alliance:Leukodystrophy%2C+dysmyelinating%2C+and+spastic+paraparesis+with+or+without+dystonia/4201|MedGen:C3668943|OMIM:611026.0001|OMIM:611026.0002|OMIM:611026.0003|OMIM:611026.0004|OMIM:611026.0005|OMIM:611026.0006|OMIM:611026.0007|OMIM:611026.0008|OMIM:612319|Orphanet:171629 16 88720174 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=55809;RCV=RCV000049235;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS;ALL_PMIDS=23479567..9718354;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 16 88727144 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=55809;RCV=RCV000049235;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS;ALL_PMIDS=23479567..9718354;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 16 88733652 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=55813;RCV=RCV000049238;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917..23479567..9827909;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 16 88733731 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=55813;RCV=RCV000049238;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917..23479567..9827909;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 16 88734844 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=55813;RCV=RCV000049238;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917..23479567..9827909;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -16 89546737 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217005;RCV=RCV000198007;ALLELE_ID=51184;SYMBOL=SPG7;HGVS_C=NM_003119.3:c.1529C>T;HGVS_P=NP_003110.1:p.Ala510Val;MOLECULAR_CONSEQUENCE=NM_003119.3:c.1529C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spastic_paraplegia_7|Spastic_paraplegia_7;ALL_PMIDS=20301286..25326637..26626314;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1107|Genetic_Alliance:Spastic+paraplegia+7/6699|Genetics_Home_Reference:spastic-paraplegia-type-7|MedGen:C1846564|OMIM:607259|Office_of_Rare_Diseases:4927|Orphanet:99013 -16 89554502 . T CCAAGTCTGTA . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217005;RCV=RCV000198007;ALLELE_ID=213642;SYMBOL=SPG7;HGVS_C=NM_003119.3:c.2120delTinsCCAAGTCTGTA;HGVS_P=NP_003110.1:p.Val707Alafs;MOLECULAR_CONSEQUENCE=NM_003119.3:c.2120delTinsCCAAGTCTGTA:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Spastic_paraplegia_7|Spastic_paraplegia_7;ALL_PMIDS=20301286..25326637..26626314;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=unknown;XREFS=GeneReviews:NBK1107|Genetic_Alliance:Spastic+paraplegia+7/6699|Genetics_Home_Reference:spastic-paraplegia-type-7|MedGen:C1846564|OMIM:607259|Office_of_Rare_Diseases:4927|Orphanet:99013 17 7220519 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=1631;RCV=RCV000001698;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Very_long_chain_acyl-CoA_dehydrogenase_deficiency|VLCAD_DEFICIENCY;ALL_PMIDS=10790204..20301763..27209629;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1_-_9_/_100_000|1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK6816|Genetic_Alliance:VLCAD+deficiency/7410|Genetic_Testing_Registry_(GTR):GTR000328131|Genetic_Testing_Registry_(GTR):GTR000501713|Genetic_Testing_Registry_(GTR):GTR000501716|Genetic_Testing_Registry_(GTR):GTR000506347|Genetic_Testing_Registry_(GTR):GTR000514645|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519384|Genetic_Testing_Registry_(GTR):GTR000521370|Genetic_Testing_Registry_(GTR):GTR000521512|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000530051|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0342784|OMIM:201475|Office_of_Rare_Diseases:5508|Orphanet:26793|SNOMED_CT:237996001|SNOMED_CT:237997005 17 7222068 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=1631;RCV=RCV000001698;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Very_long_chain_acyl-CoA_dehydrogenase_deficiency|VLCAD_DEFICIENCY;ALL_PMIDS=10790204..20301763..27209629;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1_-_9_/_100_000|1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK6816|Genetic_Alliance:VLCAD+deficiency/7410|Genetic_Testing_Registry_(GTR):GTR000328131|Genetic_Testing_Registry_(GTR):GTR000501713|Genetic_Testing_Registry_(GTR):GTR000501716|Genetic_Testing_Registry_(GTR):GTR000506347|Genetic_Testing_Registry_(GTR):GTR000514645|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519384|Genetic_Testing_Registry_(GTR):GTR000521370|Genetic_Testing_Registry_(GTR):GTR000521512|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000530051|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C0342784|OMIM:201475|Office_of_Rare_Diseases:5508|Orphanet:26793|SNOMED_CT:237996001|SNOMED_CT:237997005 17 8014699 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=9354|9356;RCV=RCV000009948|RCV000009950;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10647719..11565546..9097965..9618177|9683616;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetic_Testing_Registry_(GTR):GTR000501118|Genetic_Testing_Registry_(GTR):GTR000520022|Genetic_Testing_Registry_(GTR):GTR000520023|Genetic_Testing_Registry_(GTR):GTR000520060|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872 @@ -679,8 +455,6 @@ 17 8014704 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=9356;RCV=RCV000009950;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=9683616;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetic_Testing_Registry_(GTR):GTR000501118|Genetic_Testing_Registry_(GTR):GTR000520022|Genetic_Testing_Registry_(GTR):GTR000520023|Genetic_Testing_Registry_(GTR):GTR000520060|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872 17 17215294 . G TC . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3377;RCV=RCV000003544;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Multiple_fibrofolliculomas|BIRT-HOGG-DUBE_SYNDROME;ALL_PMIDS=19320655..19562744..20301695..24319509..25394175;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1522|Genetic_Alliance:Multiple+fibrofolliculomas/8920|Genetic_Testing_Registry_(GTR):GTR000501362|Genetic_Testing_Registry_(GTR):GTR000501366|Genetic_Testing_Registry_(GTR):GTR000501438|Genetic_Testing_Registry_(GTR):GTR000501439|Genetic_Testing_Registry_(GTR):GTR000501440|Genetic_Testing_Registry_(GTR):GTR000510973|Genetic_Testing_Registry_(GTR):GTR000520030|Genetic_Testing_Registry_(GTR):GTR000522559|Genetic_Testing_Registry_(GTR):GTR000528534|Genetics_Home_Reference:birt-hogg-dube-syndrome|MedGen:C0346010|OMIM:135150|Office_of_Rare_Diseases:2322|Orphanet:122|SNOMED_CT:110985001 17 17215312 . AAACTCTGTAAC A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=3377;RCV=RCV000003544;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Multiple_fibrofolliculomas|BIRT-HOGG-DUBE_SYNDROME;ALL_PMIDS=19320655..19562744..20301695..24319509..25394175;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1522|Genetic_Alliance:Multiple+fibrofolliculomas/8920|Genetic_Testing_Registry_(GTR):GTR000501362|Genetic_Testing_Registry_(GTR):GTR000501366|Genetic_Testing_Registry_(GTR):GTR000501438|Genetic_Testing_Registry_(GTR):GTR000501439|Genetic_Testing_Registry_(GTR):GTR000501440|Genetic_Testing_Registry_(GTR):GTR000510973|Genetic_Testing_Registry_(GTR):GTR000520030|Genetic_Testing_Registry_(GTR):GTR000522559|Genetic_Testing_Registry_(GTR):GTR000528534|Genetics_Home_Reference:birt-hogg-dube-syndrome|MedGen:C0346010|OMIM:135150|Office_of_Rare_Diseases:2322|Orphanet:122|SNOMED_CT:110985001 -17 18119172 . CCG C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236054;RCV=RCV000225017;ALLELE_ID=237619;SYMBOL=MYO15A;HGVS_C=NM_016239.3:c.373_374delCG;HGVS_P=NP_057323.3:p.Arg125Valfs;MOLECULAR_CONSEQUENCE=NM_016239.3:c.373_374delCG:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_3;ALL_PMIDS=20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+3/8169|MedGen:C1838263|OMIM:600316|Orphanet:90636 -17 18154714 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236054;RCV=RCV000225017;ALLELE_ID=230744;SYMBOL=MYO15A;HGVS_C=NM_016239.3:c.8183G>A;HGVS_P=NP_057323.3:p.Arg2728His;MOLECULAR_CONSEQUENCE=NM_016239.3:c.8183G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_3;ALL_PMIDS=20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+3/8169|MedGen:C1838263|OMIM:600316|Orphanet:90636 17 28357710 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=222472;RCV=RCV000210786;ALLELE_ID=224173;SYMBOL=TMEM199;HGVS_C=NM_152464.2:c.40G>C;HGVS_P=NP_689677.1:p.Ala14Pro;MOLECULAR_CONSEQUENCE=NM_152464.2:c.40G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Gastroenterology_and_Hepatology..Radboud_University_Medical_Center;ALL_TRAITS=Congenital_disorders_of_glycosylation_type_II|Congenital_disorders_of_Glycosylation_type_II;ALL_PMIDS=26833330;ORIGIN=germline;XREFS=MedGen:CN234782 17 28360528 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=222472;RCV=RCV000210786;ALLELE_ID=224174;SYMBOL=TMEM199;HGVS_C=NM_152464.2:c.376-1G>A;MOLECULAR_CONSEQUENCE=NM_152464.2:c.376-1G>A:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Gastroenterology_and_Hepatology..Radboud_University_Medical_Center;ALL_TRAITS=Congenital_disorders_of_glycosylation_type_II|Congenital_disorders_of_Glycosylation_type_II;ALL_PMIDS=26833330;ORIGIN=germline;XREFS=MedGen:CN234782 17 31250916 . TA T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=217112;RCV=RCV000200907;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Medical_Genomics_Laboratory..Department_of_Genetics_UAB;ALL_TRAITS=Neurofibromatosis..type_1|Neurofibromatosis..type_1;ALL_PMIDS=10862084..15604628..17636453..20065170..20301288..24893135..26189818;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-5_/_10_000|1:3..000;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|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 @@ -688,32 +462,21 @@ 17 42690752 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236196;RCV=RCV000225022;ALLELE_ID=237756;SYMBOL=CNTNAP1;HGVS_C=NM_003632.2:c.1869G>A;HGVS_P=NP_003623.1:p.Trp623Ter;MOLECULAR_CONSEQUENCE=NM_003632.2:c.1869G>A:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab)..CHU_de_Nantes;ALL_TRAITS=Lethal_congenital_contracture_syndrome_7;ORIGIN=germline;XREFS=Human_Phenotype_Ontology:HP:0002804|Human_Phenotype_Ontology:HP:0007108|MedGen:CN228895|OMIM:616286 17 43095875 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236265;RCV=RCV000225499;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000|Hereditary_breast_and_ovarian_cancer_(HBOC)_resulting_from_mutations_in_BRCA1_and_BRCA2_is_the_most_common_form_of_both_hereditary_breast_and_ovarian_cancers_and_occurs_in_all_ethnic_and_racial_populations._The_overall_prevalence_of_BRCA1/2_mutations_is_estimated_to_be_from_1:400_to_1:800_[Ford_et_al_1994..Claus_et_al_1996..Whittemore_et_al_1997]..but_varies_depending_on_ethnicity.;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):GTR000520117|Genetic_Testing_Registry_(GTR):GTR000520118|Genetic_Testing_Registry_(GTR):GTR000520119|Genetic_Testing_Registry_(GTR):GTR000520122|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):GTR000552078|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 17 43095924 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=236265;RCV=RCV000225499;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000|Hereditary_breast_and_ovarian_cancer_(HBOC)_resulting_from_mutations_in_BRCA1_and_BRCA2_is_the_most_common_form_of_both_hereditary_breast_and_ovarian_cancers_and_occurs_in_all_ethnic_and_racial_populations._The_overall_prevalence_of_BRCA1/2_mutations_is_estimated_to_be_from_1:400_to_1:800_[Ford_et_al_1994..Claus_et_al_1996..Whittemore_et_al_1997]..but_varies_depending_on_ethnicity.;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):GTR000520117|Genetic_Testing_Registry_(GTR):GTR000520118|Genetic_Testing_Registry_(GTR):GTR000520119|Genetic_Testing_Registry_(GTR):GTR000520122|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):GTR000552078|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 -17 44379780 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216944;RCV=RCV000198077;ALLELE_ID=17939;SYMBOL=ITGA2B;HGVS_C=NM_000419.4:c.1787T>C;HGVS_P=NP_000410.2:p.Ile596Thr;MOLECULAR_CONSEQUENCE=NM_000419.4:c.1787T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Glanzmann_thrombasthenia|Glanzmann's_thrombasthenia;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;ORIGIN=unknown;XREFS=Genetic_Alliance:Thrombasthenia+of+Glanzmann+and+Naegeli/7074|Genetic_Testing_Registry_(GTR):GTR000502545|Genetic_Testing_Registry_(GTR):GTR000509864|Genetic_Testing_Registry_(GTR):GTR000514588|Genetic_Testing_Registry_(GTR):GTR000519119|Genetic_Testing_Registry_(GTR):GTR000552337|Genetics_Home_Reference:glanzmann-thrombasthenia|MedGen:C0040015|OMIM:273800|Office_of_Rare_Diseases:2478|Orphanet:849|SNOMED_CT:32942005 -17 44385686 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216944;RCV=RCV000198077;ALLELE_ID=213645;SYMBOL=ITGA2B;HGVS_C=NM_000419.4:c.439C>G;HGVS_P=NP_000410.2:p.Leu147Val;MOLECULAR_CONSEQUENCE=NM_000419.4:c.439C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Glanzmann_thrombasthenia|Glanzmann's_thrombasthenia;ALL_PMIDS=25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;ORIGIN=unknown;XREFS=Genetic_Alliance:Thrombasthenia+of+Glanzmann+and+Naegeli/7074|Genetic_Testing_Registry_(GTR):GTR000502545|Genetic_Testing_Registry_(GTR):GTR000509864|Genetic_Testing_Registry_(GTR):GTR000514588|Genetic_Testing_Registry_(GTR):GTR000519119|Genetic_Testing_Registry_(GTR):GTR000552337|Genetics_Home_Reference:glanzmann-thrombasthenia|MedGen:C0040015|OMIM:273800|Office_of_Rare_Diseases:2478|Orphanet:849|SNOMED_CT:32942005 17 44911369 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190352;RCV=RCV000192152;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|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=18004641..20301351..21533827;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007 17 44911375 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190352;RCV=RCV000192152;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=18004641..20301351..21533827;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007 17 44913382 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190336;RCV=RCV000192110;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|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=14707518..15060693..19444543..20301351..21533827;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007 17 44915251 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=190336;RCV=RCV000192110;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|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=14707518..15060693..19444543..20301351..21533827;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007 -17 46932200 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216938;RCV=RCV000198527;ALLELE_ID=208401;SYMBOL=GOSR2;HGVS_C=NM_004287.4:c.336+1G>A;MOLECULAR_CONSEQUENCE=NM_004287.4:c.336+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Epilepsy..progressive_myoclonic_6|Epilepsy..progressive_myoclonic_6;ALL_PMIDS=25326637;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+6/8336|MedGen:C3279627|OMIM:614018|Orphanet:280620 -17 46935122 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216938;RCV=RCV000198527;ALLELE_ID=39363;SYMBOL=GOSR2;HGVS_C=NM_004287.4:c.430G>T;HGVS_P=NP_004278.2:p.Gly144Trp;MOLECULAR_CONSEQUENCE=NM_001321134.1:c.282+2923G>T:intron_variant|NM_004287.4:c.430G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Epilepsy..progressive_myoclonic_6|Epilepsy..progressive_myoclonic_6;ALL_PMIDS=25326637;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+6/8336|MedGen:C3279627|OMIM:614018|Orphanet:280620 +17 63941803 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=21158;RCV=RCV000020275;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=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Hyperkalemic_Periodic_Paralysis_Type_1;ALL_PMIDS=10930446..20298421..20301669;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1496|GeneTests:2133|Genetic_Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591|MedGen:CN074266|OMIM:170500|Orphanet:682 +17 63941814 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=21158;RCV=RCV000020275;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=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Hyperkalemic_Periodic_Paralysis_Type_1;ALL_PMIDS=10930446..20298421..20301669;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1496|GeneTests:2133|Genetic_Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591|MedGen:CN074266|OMIM:170500|Orphanet:682 17 75517064 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2121;RCV=RCV000002203;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Pontocerebellar_hypoplasia_type_4|PONTOCEREBELLAR_HYPOPLASIA..TYPE_4;ALL_PMIDS=18711368..20301773;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Antenatal;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK9673|Genetic_Alliance:Pontocerebellar+hypoplasia+type+4/5866|Genetic_Testing_Registry_(GTR):GTR000320599|Genetic_Testing_Registry_(GTR):GTR000500167|Genetic_Testing_Registry_(GTR):GTR000500222|Genetic_Testing_Registry_(GTR):GTR000507730|Genetic_Testing_Registry_(GTR):GTR000507731|Genetic_Testing_Registry_(GTR):GTR000512857|Genetic_Testing_Registry_(GTR):GTR000528277|MedGen:C1856974|OMIM:225753|Office_of_Rare_Diseases:343|Orphanet:166063 17 75522000 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=2121;RCV=RCV000002203;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Pontocerebellar_hypoplasia_type_4|PONTOCEREBELLAR_HYPOPLASIA..TYPE_4;ALL_PMIDS=18711368..20301773;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Antenatal;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK9673|Genetic_Alliance:Pontocerebellar+hypoplasia+type+4/5866|Genetic_Testing_Registry_(GTR):GTR000320599|Genetic_Testing_Registry_(GTR):GTR000500167|Genetic_Testing_Registry_(GTR):GTR000500222|Genetic_Testing_Registry_(GTR):GTR000507730|Genetic_Testing_Registry_(GTR):GTR000507731|Genetic_Testing_Registry_(GTR):GTR000512857|Genetic_Testing_Registry_(GTR):GTR000528277|MedGen:C1856974|OMIM:225753|Office_of_Rare_Diseases:343|Orphanet:166063 18 3215158 . CAC GAG . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=229030;RCV=RCV000221703;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 18 3215159 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=229030;RCV=RCV000221703;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -18 23536680 . G GAAAT . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216973;RCV=RCV000197375;ALLELE_ID=213648;SYMBOL=NPC1;HGVS_C=NM_000271.4:c.3234_3237dupATTT;HGVS_P=NP_000262.2:p.Pro1080Ilefs;MOLECULAR_CONSEQUENCE=NM_000271.4:c.3234_3237dupATTT:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Niemann-Pick_disease_type_C1|Niemann-Pick_disease_type_C1;ALL_PMIDS=20301473..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1296|Genetic_Alliance:Niemann-Pick+disease+type+C1/5223|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C3179455|OMIM:257220|OMIM:607623.0011|OMIM:607623.0012|Office_of_Rare_Diseases:7207|Orphanet:646 -18 23543487 . G T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=216973;RCV=RCV000197375;ALLELE_ID=213649;SYMBOL=NPC1;HGVS_C=NM_000271.4:c.2213C>A;HGVS_P=NP_000262.2:p.Ser738Ter;MOLECULAR_CONSEQUENCE=NM_000271.4:c.2213C>A:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Niemann-Pick_disease_type_C1|Niemann-Pick_disease_type_C1;ALL_PMIDS=20301473..25326637;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1296|Genetic_Alliance:Niemann-Pick+disease+type+C1/5223|Genetic_Testing_Registry_(GTR):GTR000552033|MedGen:C3179455|OMIM:257220|OMIM:607623.0011|OMIM:607623.0012|Office_of_Rare_Diseases:7207|Orphanet:646 -18 46524734 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236045;RCV=RCV000225012;ALLELE_ID=39947;SYMBOL=LOXHD1;HGVS_C=NM_144612.6:c.4714C>T;HGVS_P=NP_653213.6:p.Arg1572Ter;MOLECULAR_CONSEQUENCE=NM_144612.6:c.4714C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_77;ALL_PMIDS=20301607..21465660;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+77/8186|MedGen:C2746083|OMIM:613079|Orphanet:90636 -18 46529227 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=236045;RCV=RCV000225012;ALLELE_ID=176561;SYMBOL=LOXHD1;HGVS_C=NM_144612.6:c.4480C>T;HGVS_P=NP_653213.6:p.Arg1494Ter;MOLECULAR_CONSEQUENCE=NM_144612.6:c.4480C>T:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_of_Prof._Karen_Avraham..Tel_Aviv_University;ALL_TRAITS=Deafness..autosomal_recessive_77;ALL_PMIDS=20301607..21465660;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+77/8186|MedGen:C2746083|OMIM:613079|Orphanet:90636 18 53467923 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=375288;RCV=RCV000416369;ALLELE_ID=362059;SYMBOL=DCC;HGVS_C=NM_005215.3:c.3649A>G;HGVS_P=NP_005206.2:p.Met1217Val;MOLECULAR_CONSEQUENCE=NM_005215.3:c.3649A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Neurogenetics_Research..Murdoch_Childrens_Research_Institute;ALL_TRAITS=Corpus_callosum_agenesis;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Agenesis+of+the+Corpus+Callosum/263|Genetic_Testing_Registry_(GTR):GTR000331025|Genetic_Testing_Registry_(GTR):GTR000512629|Genetic_Testing_Registry_(GTR):GTR000520970|MedGen:C0175754|OMIM:217990|Office_of_Rare_Diseases:1535|Orphanet:200 18 53486808 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=375288;RCV=RCV000416369;ALLELE_ID=362060;SYMBOL=DCC;HGVS_C=NM_005215.3:c.3748G>A;HGVS_P=NP_005206.2:p.Ala1250Thr;MOLECULAR_CONSEQUENCE=NM_005215.3:c.3748G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Neurogenetics_Research..Murdoch_Childrens_Research_Institute;ALL_TRAITS=Corpus_callosum_agenesis;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Agenesis+of+the+Corpus+Callosum/263|Genetic_Testing_Registry_(GTR):GTR000331025|Genetic_Testing_Registry_(GTR):GTR000512629|Genetic_Testing_Registry_(GTR):GTR000520970|MedGen:C0175754|OMIM:217990|Office_of_Rare_Diseases:1535|Orphanet:200 18 57550753 . A C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=561;RCV=RCV000000591;ALLELE_ID=38381;SYMBOL=FECH;HGVS_C=NM_001012515.2:c.1249T>G;HGVS_P=NP_001012533.1:p.Cys417Gly;MOLECULAR_CONSEQUENCE=NM_000140.3:c.1231T>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Erythropoietic_protoporphyria|PROTOPORPHYRIA..ERYTHROPOIETIC;ALL_PMIDS=10942404..23016163;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK100826|Genetic_Alliance:Erythropoietic+Protoporphyria/2648|MedGen:C0162568|OMIM:177000|Office_of_Rare_Diseases:4527|Orphanet:79278|SNOMED_CT:51022005 18 57550759 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=561;RCV=RCV000000591;ALLELE_ID=38382;SYMBOL=FECH;HGVS_C=NM_001012515.2:c.1243C>T;HGVS_P=NP_001012533.1:p.Pro415Ser;MOLECULAR_CONSEQUENCE=NM_000140.3:c.1225C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Erythropoietic_protoporphyria|PROTOPORPHYRIA..ERYTHROPOIETIC;ALL_PMIDS=10942404..23016163;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK100826|Genetic_Alliance:Erythropoietic+Protoporphyria/2648|MedGen:C0162568|OMIM:177000|Office_of_Rare_Diseases:4527|Orphanet:79278|SNOMED_CT:51022005 18 57550760 . A T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=561;RCV=RCV000000591;ALLELE_ID=15600;SYMBOL=FECH;HGVS_C=NM_001012515.2:c.1242T>A;HGVS_P=NP_001012533.1:p.Asn414Lys;MOLECULAR_CONSEQUENCE=NM_000140.3:c.1224T>A:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Erythropoietic_protoporphyria|PROTOPORPHYRIA..ERYTHROPOIETIC;ALL_PMIDS=10942404..23016163;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK100826|Genetic_Alliance:Erythropoietic+Protoporphyria/2648|MedGen:C0162568|OMIM:177000|Office_of_Rare_Diseases:4527|Orphanet:79278|SNOMED_CT:51022005 -18 58723046 . A G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=189258;RCV=RCV000169692;ALLELE_ID=187140;SYMBOL=MALT1;HGVS_C=NM_006785.3:c.1019-2A>G;MOLECULAR_CONSEQUENCE=NM_006785.3:c.1019-2A>G:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Puck_Laboratory..University_of_California..San_Francisco;ALL_TRAITS=Combined_immunodeficiency|Infections|Poor_growth|Eczematous_rash|Inflammatory_bowel_disease|Poor_specific_antibody_responses|Decreased_T_regulatory_cells|Cytomegalovirus_infection|Combined_immunodeficiency;ALL_PMIDS=25627829;ORIGIN=de_novo;XREFS=MedGen:C0494261|Puck_Laboratory..University_of_California..San_Francisco:S465.1 -18 58723087 . AC A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=189258;RCV=RCV000169692;ALLELE_ID=187141;SYMBOL=MALT1;HGVS_C=NM_006785.3:c.1060delC;HGVS_P=NP_006776.1:p.Arg354Glyfs;MOLECULAR_CONSEQUENCE=NM_006785.3:c.1060delC:frameshift_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Puck_Laboratory..University_of_California..San_Francisco;ALL_TRAITS=Combined_immunodeficiency|Infections|Poor_growth|Eczematous_rash|Inflammatory_bowel_disease|Poor_specific_antibody_responses|Decreased_T_regulatory_cells|Cytomegalovirus_infection|Combined_immunodeficiency;ALL_PMIDS=25627829;ORIGIN=de_novo;XREFS=MedGen:C0494261|Puck_Laboratory..University_of_California..San_Francisco:S465.1 -18 79973765 . C A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190411;RCV=RCV000170535;ALLELE_ID=171912;SYMBOL=TXNL4A;HGVS_C=NM_006701.4:c.349G>T;HGVS_P=NP_001292492.1:p.Glu46Ter;MOLECULAR_CONSEQUENCE=NM_001305563.1:c.136G>T:nonsense|NR_131175.1:n.768G>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health;ALL_TRAITS=Burn-McKeown_syndrome|Burn-Mckeown_syndrome;ALL_PMIDS=25434003..27413799;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetics_Home_Reference:burn-mckeown-syndrome|MedGen:C1837822|OMIM:608572|Orphanet:1200 -18 79988261 . GA G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190415;RCV=RCV000170539;ALLELE_ID=171914;SYMBOL=TXNL4A;HGVS_C=NM_006701.4:c.131delT;HGVS_P=NP_006692.1:p.Val44Alafs;MOLECULAR_CONSEQUENCE=NM_001303471.2:c.-136delT:5_prime_UTR_variant|NM_001305557.1:c.129+2delT:splice_donor_variant|NM_001305563.1:c.-60-10561delT:intron_variant|NM_006701.4:c.131delT:frameshift_variant|NR_131175.1:n.331delT:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health;ALL_TRAITS=Burn-McKeown_syndrome|Burn-Mckeown_syndrome;ALL_PMIDS=25434003..27413799;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetics_Home_Reference:burn-mckeown-syndrome|MedGen:C1837822|OMIM:608572|Orphanet:1200 -18 79988356 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=190412;RCV=RCV000170536;ALLELE_ID=171913;SYMBOL=TXNL4A;HGVS_C=NM_006701.4:c.37C>T;HGVS_P=NP_006692.1:p.Gln13Ter;MOLECULAR_CONSEQUENCE=NM_001303471.2:c.-230C>T:5_prime_UTR_variant|NM_001305563.1:c.-60-10655C>T:intron_variant|NM_006701.4:c.37C>T:nonsense|NR_131175.1:n.237C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institute_of_Human_Genetics..Helmholtz_Zentrum_München..German_Research_Center_for_Environmental_Health;ALL_TRAITS=Burn-McKeown_syndrome|Burn-Mckeown_syndrome;ALL_PMIDS=25434003..27413799;AGE_OF_ONSET=Neonatal;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetics_Home_Reference:burn-mckeown-syndrome|MedGen:C1837822|OMIM:608572|Orphanet:1200 19 853329 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16747;RCV=RCV000018231;ALLELE_ID=31786;SYMBOL=ELANE;HGVS_C=NM_001972.3:c.292G>T;HGVS_P=NP_001963.1:p.Val98Leu;MOLECULAR_CONSEQUENCE=NM_001972.3:c.292G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Severe_congenital_neutropenia_autosomal_dominant|NEUTROPENIA..SEVERE_CONGENITAL..1..AUTOSOMAL_DOMINANT;ALL_PMIDS=17436313..20301705;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1533|Genetic_Alliance:Severe+congenital+neutropenia+autosomal+dominant/6527|Genetic_Testing_Registry_(GTR):GTR000302019|Genetic_Testing_Registry_(GTR):GTR000309228|Genetic_Testing_Registry_(GTR):GTR000501114|Genetic_Testing_Registry_(GTR):GTR000509067|Genetic_Testing_Registry_(GTR):GTR000512562|Genetic_Testing_Registry_(GTR):GTR000519424|Genetic_Testing_Registry_(GTR):GTR000519601|Genetic_Testing_Registry_(GTR):GTR000528303|Genetic_Testing_Registry_(GTR):GTR000528905|Genetic_Testing_Registry_(GTR):GTR000529138|Genetic_Testing_Registry_(GTR):GTR000552055|MedGen:C1859966|OMIM:130130.0006|OMIM:130130.0007|OMIM:130130.0008|OMIM:130130.0009|OMIM:130130.0010|OMIM:130130.0011|OMIM:202700|Office_of_Rare_Diseases:9558|Orphanet:486 19 853338 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16747;RCV=RCV000018231;ALLELE_ID=38480;SYMBOL=ELANE;HGVS_C=NM_001972.3:c.301G>T;HGVS_P=NP_001963.1:p.Val101Leu;MOLECULAR_CONSEQUENCE=NM_001972.3:c.301G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Severe_congenital_neutropenia_autosomal_dominant|NEUTROPENIA..SEVERE_CONGENITAL..1..AUTOSOMAL_DOMINANT;ALL_PMIDS=17436313..20301705;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1533|Genetic_Alliance:Severe+congenital+neutropenia+autosomal+dominant/6527|Genetic_Testing_Registry_(GTR):GTR000302019|Genetic_Testing_Registry_(GTR):GTR000309228|Genetic_Testing_Registry_(GTR):GTR000501114|Genetic_Testing_Registry_(GTR):GTR000509067|Genetic_Testing_Registry_(GTR):GTR000512562|Genetic_Testing_Registry_(GTR):GTR000519424|Genetic_Testing_Registry_(GTR):GTR000519601|Genetic_Testing_Registry_(GTR):GTR000528303|Genetic_Testing_Registry_(GTR):GTR000528905|Genetic_Testing_Registry_(GTR):GTR000529138|Genetic_Testing_Registry_(GTR):GTR000552055|MedGen:C1859966|OMIM:130130.0006|OMIM:130130.0007|OMIM:130130.0008|OMIM:130130.0009|OMIM:130130.0010|OMIM:130130.0011|OMIM:202700|Office_of_Rare_Diseases:9558|Orphanet:486 19 863114 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16565;RCV=RCV000018033;ALLELE_ID=31604;SYMBOL=CFD;HGVS_C=NM_001928.3:c.638T>G;HGVS_P=NP_001919.2:p.Val213Gly;MOLECULAR_CONSEQUENCE=NM_001928.3:c.638T>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Complement_factor_d_deficiency|COMPLEMENT_FACTOR_D_DEFICIENCY;ALL_PMIDS=16527897;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Complement+factor+d+deficiency/8033|MedGen:C1851396|OMIM:613912 @@ -730,16 +493,10 @@ 19 18599720 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=5706;RCV=RCV000006060;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cold-induced_sweating_syndrome_1|COLD-INDUCED_SWEATING_SYNDROME_1;ALL_PMIDS=12509788..21370513;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK52917|Genetic_Alliance:Cold-induced+sweating+syndrome+1/8000|Genetic_Alliance:Crisponi+Syndrome/2012|MedGen:C1848947|OMIM:272430|Orphanet:157820 19 35842429 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=6872;RCV=RCV000007275;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Finnish_congenital_nephrotic_syndrome|NEPHROTIC_SYNDROME..TYPE_1;ALL_PMIDS=10652016;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861|Genetic_Testing_Registry_(GTR):GTR000552033|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 19 35848142 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=6872;RCV=RCV000007275;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=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Finnish_congenital_nephrotic_syndrome|NEPHROTIC_SYNDROME..TYPE_1;ALL_PMIDS=10652016;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;ORIGIN=germline;XREFS=Genetic_Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861|Genetic_Testing_Registry_(GTR):GTR000552033|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 -19 36097074 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208961;RCV=RCV000201333;ALLELE_ID=205491;SYMBOL=WDR62;HGVS_C=NM_001083961.1:c.2515C>T;HGVS_P=NP_001077430.1:p.Arg839Trp;MOLECULAR_CONSEQUENCE=NM_001083961.1:c.2515C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -19 36102820 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208961;RCV=RCV000201333;ALLELE_ID=205492;SYMBOL=WDR62;HGVS_C=NM_001083961.1:c.3304C>T;HGVS_P=NP_001077430.1:p.Gln1102Ter;MOLECULAR_CONSEQUENCE=NM_001083961.1:c.3304C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Génétique_et_pathophysiologie_de_maladies_neurodéveloppementales_et_épileptogènes..Institut_de_génétique_et_de_biologie_moléculaire_et_cellulaire;ALL_TRAITS=Abnormality_of_neuronal_migration|Malformation_of_Cortical_Development;ORIGIN=maternal;XREFS=HP:HP:0002269|Human_Phenotype_Ontology:HP:0002269|Human_Phenotype_Ontology:HP:0007317|MedGen:CN002060 -19 38458154 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224663;RCV=RCV000226744;ALLELE_ID=226483;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.2029C>T;HGVS_P=NP_000531.2:p.Gln677Ter;MOLECULAR_CONSEQUENCE=NM_000540.2:c.2029C>T:nonsense;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Central_core_disease;ALL_PMIDS=18253926..20301565..21989361..22009146..23788249..27854218;INHERITANCE_MODES=Sporadic;PREVALENCE=1-9_/_1_000_000|The_precise_incidence_and_prevalence_of_CCD..considered_to_be_the_most_frequently_occurring_congenital_myopathy..are_unknown.;ORIGIN=unknown;XREFS=GeneReviews:NBK1391|Genetic_Alliance:Central+Core+Disease/1190|Genetic_Testing_Registry_(GTR):GTR000332149|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000506313|Genetic_Testing_Registry_(GTR):GTR000506314|Genetic_Testing_Registry_(GTR):GTR000508454|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000519455|Genetic_Testing_Registry_(GTR):GTR000528322|Genetic_Testing_Registry_(GTR):GTR000552206|MedGen:C0751951|OMIM:117000|Office_of_Rare_Diseases:6014|Orphanet:597|SNOMED_CT:43152001 19 38489352 . AAG A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=29876;RCV=RCV000022757;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=20301467..20839240..22009146..23788249;AGE_OF_ONSET=Antenatal;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598 -19 38496466 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224660;RCV=RCV000233721;ALLELE_ID=169564;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.6721C>T;HGVS_P=NP_000531.2:p.Arg2241Ter;MOLECULAR_CONSEQUENCE=NM_000540.2:c.6721C>T:nonsense;CLINICAL_SIGNIFICANCE=Likely_benign|Pathogenic;PATHOGENIC=1;BENIGN=1;CONFLICTED=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Central_core_disease;ALL_PMIDS=18312400..20301565..21989361..22009146..23788249..26633545..27854218;INHERITANCE_MODES=Sporadic;PREVALENCE=1-9_/_1_000_000|The_precise_incidence_and_prevalence_of_CCD..considered_to_be_the_most_frequently_occurring_congenital_myopathy..are_unknown.;ORIGIN=unknown;XREFS=GeneReviews:NBK1391|Genetic_Alliance:Central+Core+Disease/1190|Genetic_Testing_Registry_(GTR):GTR000332149|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000506313|Genetic_Testing_Registry_(GTR):GTR000506314|Genetic_Testing_Registry_(GTR):GTR000508454|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000519455|Genetic_Testing_Registry_(GTR):GTR000528322|Genetic_Testing_Registry_(GTR):GTR000552206|MedGen:C0751951|OMIM:117000|Office_of_Rare_Diseases:6014|Orphanet:597|SNOMED_CT:43152001 19 38504319 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12985;RCV=RCV000013857;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|not_provided;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Malignant_hyperthermia..susceptibility_to..1|MALIGNANT_HYPERTHERMIA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=14732627..14870754..16163667..16917943..20301325..23788249..25356965..27854360;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=All_ages;ORIGIN=germline;XREFS=GeneReviews:NBK1146|Genetic_Testing_Registry_(GTR):GTR000246332|Genetic_Testing_Registry_(GTR):GTR000501319|Genetic_Testing_Registry_(GTR):GTR000501425|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000506313|Genetic_Testing_Registry_(GTR):GTR000506314|Genetic_Testing_Registry_(GTR):GTR000508750|Genetic_Testing_Registry_(GTR):GTR000520991|MedGen:CN031421|OMIM:145600|Office_of_Rare_Diseases:3363|Orphanet:423 19 38505358 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=12985;RCV=RCV000013857;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|not_provided;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Malignant_hyperthermia..susceptibility_to..1|MALIGNANT_HYPERTHERMIA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=14732627..14870754..16163667..16917943..20301325..23788249..25356965..27854360;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=All_ages;ORIGIN=germline;XREFS=GeneReviews:NBK1146|Genetic_Testing_Registry_(GTR):GTR000246332|Genetic_Testing_Registry_(GTR):GTR000501319|Genetic_Testing_Registry_(GTR):GTR000501425|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000506313|Genetic_Testing_Registry_(GTR):GTR000506314|Genetic_Testing_Registry_(GTR):GTR000508750|Genetic_Testing_Registry_(GTR):GTR000520991|MedGen:CN031421|OMIM:145600|Office_of_Rare_Diseases:3363|Orphanet:423 19 38512253 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=29876;RCV=RCV000022757;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=20301467..20839240..22009146..23788249;AGE_OF_ONSET=Antenatal;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598 -19 38580382 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224663;RCV=RCV000226744;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=Pathogenic|Uncertain_significance|not_provided;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Central_core_disease;ALL_PMIDS=18253926..20301565..21989361..22009146..23788249..27854218;INHERITANCE_MODES=Sporadic;PREVALENCE=1-9_/_1_000_000|The_precise_incidence_and_prevalence_of_CCD..considered_to_be_the_most_frequently_occurring_congenital_myopathy..are_unknown.;ORIGIN=unknown;XREFS=GeneReviews:NBK1391|Genetic_Alliance:Central+Core+Disease/1190|Genetic_Testing_Registry_(GTR):GTR000332149|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000506313|Genetic_Testing_Registry_(GTR):GTR000506314|Genetic_Testing_Registry_(GTR):GTR000508454|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000519455|Genetic_Testing_Registry_(GTR):GTR000528322|Genetic_Testing_Registry_(GTR):GTR000552206|MedGen:C0751951|OMIM:117000|Office_of_Rare_Diseases:6014|Orphanet:597|SNOMED_CT:43152001 -19 38580503 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=224660;RCV=RCV000233721;ALLELE_ID=136830;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.14645C>T;HGVS_P=NP_000531.2:p.Thr4882Met;MOLECULAR_CONSEQUENCE=NM_000540.2:c.14645C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Central_core_disease;ALL_PMIDS=18312400..20301565..21989361..22009146..23788249..26633545..27854218;INHERITANCE_MODES=Sporadic;PREVALENCE=1-9_/_1_000_000|The_precise_incidence_and_prevalence_of_CCD..considered_to_be_the_most_frequently_occurring_congenital_myopathy..are_unknown.;ORIGIN=unknown;XREFS=GeneReviews:NBK1391|Genetic_Alliance:Central+Core+Disease/1190|Genetic_Testing_Registry_(GTR):GTR000332149|Genetic_Testing_Registry_(GTR):GTR000502285|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506311|Genetic_Testing_Registry_(GTR):GTR000506312|Genetic_Testing_Registry_(GTR):GTR000506313|Genetic_Testing_Registry_(GTR):GTR000506314|Genetic_Testing_Registry_(GTR):GTR000508454|Genetic_Testing_Registry_(GTR):GTR000508753|Genetic_Testing_Registry_(GTR):GTR000519455|Genetic_Testing_Registry_(GTR):GTR000528322|Genetic_Testing_Registry_(GTR):GTR000552206|MedGen:C0751951|OMIM:117000|Office_of_Rare_Diseases:6014|Orphanet:597|SNOMED_CT:43152001 19 41860817 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=6319;RCV=RCV000033188;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Diamond-Blackfan_anemia_1|DIAMOND-BLACKFAN_ANEMIA_1;ALL_PMIDS=12586610;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Diamond-Blackfan+anemia+1/8226|Genetic_Testing_Registry_(GTR):GTR000320768|Genetic_Testing_Registry_(GTR):GTR000510425|Genetic_Testing_Registry_(GTR):GTR000520412|Genetic_Testing_Registry_(GTR):GTR000525856|MedGen:C2676137|OMIM:105650|Orphanet:124 19 41861204 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=6319;RCV=RCV000033188;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Diamond-Blackfan_anemia_1|DIAMOND-BLACKFAN_ANEMIA_1;ALL_PMIDS=12586610;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Diamond-Blackfan+anemia+1/8226|Genetic_Testing_Registry_(GTR):GTR000320768|Genetic_Testing_Registry_(GTR):GTR000510425|Genetic_Testing_Registry_(GTR):GTR000520412|Genetic_Testing_Registry_(GTR):GTR000525856|MedGen:C2676137|OMIM:105650|Orphanet:124 19 44907777 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17867;RCV=RCV000019453;ALLELE_ID=32888;SYMBOL=APOE;HGVS_C=NM_000041.3:c.61G>A;HGVS_P=NP_000032.1:p.Glu21Lys;MOLECULAR_CONSEQUENCE=NM_000041.3:c.61G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hypercholesterolemia_and_hypertriglyceridemia..type_III|HYPERCHOLESTEROLEMIA_AND_HYPERTRIGLYCERIDEMIA..TYPE_III;ALL_PMIDS=1713245;ORIGIN=germline;XREFS=MedGen:C4015875 @@ -748,3 +505,64 @@ 19 44908601 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17872;RCV=RCV000019458;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=APOE4_VARIANT|APOE4_VARIANT;ALL_PMIDS=18583979..21500874..2341812..3585172;ORIGIN=germline;XREFS=OMIM:107741.0025|OMIM:107741.0028 19 44908645 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17873;RCV=RCV000019459;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=APOE3_VARIANT|APOE3_VARIANT;ALL_PMIDS=18583979..6327682;ORIGIN=germline;XREFS=OMIM:107741.0026 19 44908684 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17855|17869|17870|17872;RCV=RCV000019438|RCV000019455|RCV000019456|RCV000019458;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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|21500874..22962670..8488843|21500874|18583979..21500874..2341812..3585172;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005|OMIM:107741.0023|OMIM:107741.0025|OMIM:107741.0028 +19 44908730 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17856;RCV=RCV000019439;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Apolipoproteinemia_E1|APOLIPOPROTEINEMIA_E1;ALL_PMIDS=6323533;ORIGIN=germline +19 44908774 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17855;RCV=RCV000019438;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +19 44908783 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17860;RCV=RCV000019443;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 +19 44908804 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17873;RCV=RCV000019459;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=APOE3_VARIANT|APOE3_VARIANT;ALL_PMIDS=18583979..6327682;ORIGIN=germline;XREFS=OMIM:107741.0026 +19 44908822 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17856|17866|17868;RCV=RCV000019439|RCV000019452|RCV000019454;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=reviewed_by_expert_panel;GOLD_STARS=3;ALL_SUBMITTERS=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|22962670..8488843;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005 +19 44909021 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17866;RCV=RCV000019452;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III;ALL_PMIDS=22962670..8664327;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005 +19 44909057 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17868;RCV=RCV000019454;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +19 44909080 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17854;RCV=RCV000019435;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III..ASSOCIATED_WITH_APOE7;ALL_PMIDS=22962670..2470732..2738044..7586659;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005 +19 44909083 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17854;RCV=RCV000019435;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III..ASSOCIATED_WITH_APOE7;ALL_PMIDS=22962670..2470732..2738044..7586659;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005 +19 44909101 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=17869;RCV=RCV000019455;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +19 46755524 . C A . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=224674;RCV=RCV000226653;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_100_000;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|Genetic_Testing_Registry_(GTR):GTR000501782|Genetic_Testing_Registry_(GTR):GTR000502397|Genetic_Testing_Registry_(GTR):GTR000502450|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520475|Genetic_Testing_Registry_(GTR):GTR000520476|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 +19 46755524 . CGT C . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=224674;RCV=RCV000226653;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_100_000;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|Genetic_Testing_Registry_(GTR):GTR000501782|Genetic_Testing_Registry_(GTR):GTR000502397|Genetic_Testing_Registry_(GTR):GTR000502450|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520475|Genetic_Testing_Registry_(GTR):GTR000520476|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 +19 46756276 . C A . . MEASURESET_TYPE=Phase_unknown;MEASURESET_ID=224674;RCV=RCV000226653;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-9_/_100_000;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|Genetic_Testing_Registry_(GTR):GTR000501782|Genetic_Testing_Registry_(GTR):GTR000502397|Genetic_Testing_Registry_(GTR):GTR000502450|Genetic_Testing_Registry_(GTR):GTR000506307|Genetic_Testing_Registry_(GTR):GTR000506308|Genetic_Testing_Registry_(GTR):GTR000506321|Genetic_Testing_Registry_(GTR):GTR000506322|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520475|Genetic_Testing_Registry_(GTR):GTR000520476|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 +19 48965326 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16477;RCV=RCV000017941;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hyperferritinemia_cataract_syndrome|HYPERFERRITINEMIA_WITH_OR_WITHOUT_CATARACT;ALL_PMIDS=23421845..9226182;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;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 +19 48965330 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16477;RCV=RCV000017941;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Hyperferritinemia_cataract_syndrome|HYPERFERRITINEMIA_WITH_OR_WITHOUT_CATARACT;ALL_PMIDS=23421845..9226182;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;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 +19 49016626 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14414;RCV=RCV000015495;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=LUTEINIZING_HORMONE_POLYMORPHISM|LUTEINIZING_HORMONE_POLYMORPHISM;ALL_PMIDS=10199775..10323405..10739843..12620433..1727817..7714098..7904610..8784083;ORIGIN=germline;XREFS=OMIM:152780.0002 +19 49016648 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=14414;RCV=RCV000015495;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=LUTEINIZING_HORMONE_POLYMORPHISM|LUTEINIZING_HORMONE_POLYMORPHISM;ALL_PMIDS=10199775..10323405..10739843..12620433..1727817..7714098..7904610..8784083;ORIGIN=germline;XREFS=OMIM:152780.0002 +20 4699605 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13399;RCV=RCV000014336|RCV000014337;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Jakob-Creutzfeldt_disease|CREUTZFELDT-JAKOB_DISEASE|Fatal_familial_insomnia;ALL_PMIDS=12205650..1353341..1353342..1353344..1439789..1469441..16227536..1671440..1671983..1684756..19038218..20298421..20301407..7709737..9751723|12205650..1353341..1353342..1353344..1439789..1469441..16227536..1671440..1671983..1684756..19038218..20301407..7709737..9751723;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;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 +20 4699752 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=13399;RCV=RCV000014336|RCV000014337;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Jakob-Creutzfeldt_disease|CREUTZFELDT-JAKOB_DISEASE|Fatal_familial_insomnia;ALL_PMIDS=12205650..1353341..1353342..1353344..1439789..1469441..16227536..1671440..1671983..1684756..19038218..20298421..20301407..7709737..9751723|12205650..1353341..1353342..1353344..1439789..1469441..16227536..1671440..1671983..1684756..19038218..20301407..7709737..9751723;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;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 +20 10412791 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=5308;RCV=RCV000005632;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=McKusick_Kaufman_syndrome|MCKUSICK-KAUFMAN_SYNDROME;ALL_PMIDS=10802661..16104012..20301675;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=GeneReviews:NBK1502|Genetic_Alliance:McKusick+Kaufman+syndrome/4529|MedGen:C0948368|OMIM:236700|Office_of_Rare_Diseases:3427|Orphanet:2473 +20 10413265 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=5308;RCV=RCV000005632;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=McKusick_Kaufman_syndrome|MCKUSICK-KAUFMAN_SYNDROME;ALL_PMIDS=10802661..16104012..20301675;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=GeneReviews:NBK1502|Genetic_Alliance:McKusick+Kaufman+syndrome/4529|MedGen:C0948368|OMIM:236700|Office_of_Rare_Diseases:3427|Orphanet:2473 +20 41114115 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16773;RCV=RCV000018261;ALLELE_ID=31812;SYMBOL=PLCG1-AS1;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=DNA_topoisomerase_I..camptothecin-resistant|DNA_TOPOISOMERASE_I..CAMPTOTHECIN-RESISTANT;ALL_PMIDS=1849260;ORIGIN=germline;XREFS=MedGen:C4016020 +20 44626502 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=1981;RCV=RCV000002058;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +20 44626528 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=1981;RCV=RCV000002058;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +21 36461442 . A T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=375673;RCV=RCV000417144;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 +21 44901527 . C T . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=223391;RCV=RCV000209072;ALLELE_ID=106624;SYMBOL=ITGB2;HGVS_C=NM_000211.4:c.706G>A;HGVS_P=NP_000202.3:p.Gly236Arg;MOLECULAR_CONSEQUENCE=NM_000211.4:c.706G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Genomic_Research_Center..Shahid_Beheshti_University_of_Medical_Sciences;ALL_TRAITS=Leukocyte_adhesion_deficiency_type_1|Omphalitis|Leukocyte_adhesion_deficiency_type_1;ALL_PMIDS=26639818;AGE_OF_ONSET=Childhood;ORIGIN=inherited;XREFS=Genetic_Alliance:Leukocyte+adhesion+deficiency+type+1/4197|MedGen:C1861766|OMIM:116920|Office_of_Rare_Diseases:6893|Orphanet:2968|Orphanet:99842 +21 44901656 . T TG . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=223391;RCV=RCV000209072;ALLELE_ID=106622;SYMBOL=ITGB2;HGVS_C=NM_000211.4:c.576dupC;HGVS_P=NP_000202.3:p.Asn193Glnfs;MOLECULAR_CONSEQUENCE=NM_000211.4:c.576dupC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Genomic_Research_Center..Shahid_Beheshti_University_of_Medical_Sciences;ALL_TRAITS=Leukocyte_adhesion_deficiency_type_1|Omphalitis|Leukocyte_adhesion_deficiency_type_1;ALL_PMIDS=26639818;AGE_OF_ONSET=Childhood;ORIGIN=inherited;XREFS=Genetic_Alliance:Leukocyte+adhesion+deficiency+type+1/4197|MedGen:C1861766|OMIM:116920|Office_of_Rare_Diseases:6893|Orphanet:2968|Orphanet:99842 +21 46131981 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=29642;RCV=RCV000022490;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=Likely_pathogenic|Uncertain_significance;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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 +21 46132019 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=29642;RCV=RCV000022490;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +22 23767463 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=180222|204293;RCV=RCV000157071|RCV000192234;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|MYOPATHY..ISOLATED_MITOCHONDRIAL..AUTOSOMAL_DOMINANT_(1_family);ALL_PMIDS=25193783..9324076|2519378;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:CN225582|OMIM:616209|Orphanet:457050 +22 23767592 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=204293;RCV=RCV000192234;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|Myopathy..isolated_mitochondrial..autosomal_dominant;ALL_PMIDS=2519378;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:CN225582|OMIM:616209|Orphanet:457050 +22 23767592 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=180222;RCV=RCV000157071;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|MYOPATHY..ISOLATED_MITOCHONDRIAL..AUTOSOMAL_DOMINANT_(1_family);ALL_PMIDS=25193783..9324076;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:CN225582|OMIM:616209|Orphanet:457050 +22 25229472 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217348;RCV=RCV000203383;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +22 25229484 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=217348;RCV=RCV000203383;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +22 36265860 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=6080;RCV=RCV000006453;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Focal_segmental_glomerulosclerosis_4..susceptibility_to|FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_4..SUSCEPTIBILITY_TO;ALL_PMIDS=20647424..24206458;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Genetic_Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438|MedGen:C2675525|OMIM:612551|Orphanet:84271 +22 36265988 . T G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=6080;RCV=RCV000006453;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Focal_segmental_glomerulosclerosis_4..susceptibility_to|FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_4..SUSCEPTIBILITY_TO;ALL_PMIDS=20647424..24206458;AGE_OF_ONSET=Childhood;ORIGIN=germline;XREFS=Genetic_Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438|MedGen:C2675525|OMIM:612551|Orphanet:84271 +22 40361619 . G C . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208488;RCV=RCV000190501;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Adenylosuccinate_lyase_deficiency|Adenylosuccinate_lyase_deficiency;ALL_PMIDS=10090474..23519317;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Adenylosuccinase+Deficiency/230|Genetic_Testing_Registry_(GTR):GTR000500613|Genetic_Testing_Registry_(GTR):GTR000500614|Genetic_Testing_Registry_(GTR):GTR000506349|Genetic_Testing_Registry_(GTR):GTR000514881|Genetic_Testing_Registry_(GTR):GTR000515526|Genetic_Testing_Registry_(GTR):GTR000520979|Genetic_Testing_Registry_(GTR):GTR000520995|Genetic_Testing_Registry_(GTR):GTR000520996|Genetic_Testing_Registry_(GTR):GTR000529343|Genetic_Testing_Registry_(GTR):GTR000551668|MedGen:C0268126|OMIM:103050|Office_of_Rare_Diseases:550|Orphanet:46|SNOMED_CT:15285008 +22 40364965 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=208488;RCV=RCV000190501;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Mendelics_Analise_Genomica;ALL_TRAITS=Adenylosuccinate_lyase_deficiency|Adenylosuccinate_lyase_deficiency;ALL_PMIDS=10090474..23519317;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetic_Alliance:Adenylosuccinase+Deficiency/230|Genetic_Testing_Registry_(GTR):GTR000500613|Genetic_Testing_Registry_(GTR):GTR000500614|Genetic_Testing_Registry_(GTR):GTR000506349|Genetic_Testing_Registry_(GTR):GTR000514881|Genetic_Testing_Registry_(GTR):GTR000515526|Genetic_Testing_Registry_(GTR):GTR000520979|Genetic_Testing_Registry_(GTR):GTR000520995|Genetic_Testing_Registry_(GTR):GTR000520996|Genetic_Testing_Registry_(GTR):GTR000529343|Genetic_Testing_Registry_(GTR):GTR000551668|MedGen:C0268126|OMIM:103050|Office_of_Rare_Diseases:550|Orphanet:46|SNOMED_CT:15285008 +22 41507837 . C G . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=253012;RCV=RCV000169730;ALLELE_ID=187198;SYMBOL=ACO2;HGVS_C=NM_001098.2:c.220C>G;HGVS_P=NP_001089.1:p.Leu74Val;MOLECULAR_CONSEQUENCE=NM_001098.2:c.220C>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Optic_atrophy_9|OPTIC_ATROPHY_9_(1_family);ALL_PMIDS=25351951;ORIGIN=germline;XREFS=MedGen:CN229336|OMIM:616289 +22 41527315 . G A . . MEASURESET_TYPE=CompoundHeterozygote;MEASURESET_ID=253012;RCV=RCV000169730;ALLELE_ID=187199;SYMBOL=POLR3H;HGVS_C=NM_001098.2:c.1981G>A;HGVS_P=NP_001089.1:p.Gly661Arg;MOLECULAR_CONSEQUENCE=NM_001098.2:c.1981G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Optic_atrophy_9|OPTIC_ATROPHY_9_(1_family);ALL_PMIDS=25351951;ORIGIN=germline;XREFS=MedGen:CN229336|OMIM:616289 +22 42126611 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16895;RCV=RCV000018391;ALLELE_ID=38485;SYMBOL=CYP2D6;HGVS_C=NM_000106.5:c.1457G>C;HGVS_P=NP_000097.3:p.Ser486Thr;MOLECULAR_CONSEQUENCE=NM_000106.5:c.1457G>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Debrisoquine..ultrarapid_metabolism_of|DEBRISOQUINE..ULTRARAPID_METABOLISM_OF;ALL_PMIDS=7903454..7927337;ORIGIN=germline;XREFS=MedGen:C1837157 +22 42127941 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=16895;RCV=RCV000018391;ALLELE_ID=31934;SYMBOL=CYP2D6;HGVS_C=NM_000106.5:c.886C>T;HGVS_P=NP_000097.3:p.Arg296Cys;MOLECULAR_CONSEQUENCE=NM_000106.5:c.886C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Debrisoquine..ultrarapid_metabolism_of|DEBRISOQUINE..ULTRARAPID_METABOLISM_OF;ALL_PMIDS=7903454..7927337;ORIGIN=germline;XREFS=MedGen:C1837157 +X 13750693 . TCTCAAACACTTGGG T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=11542;RCV=RCV000012298;ALLELE_ID=76962;SYMBOL=OFD1;HGVS_C=NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA;MOLECULAR_CONSEQUENCE=NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Oral-facial-digital_syndrome|OROFACIODIGITAL_SYNDROME_I;ALL_PMIDS=15221448..20301367;INHERITANCE_MODES=X-linked_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000|Estimates_range_from_1:250..000_to_1:50..000.;ORIGIN=germline;XREFS=GeneReviews:NBK1188|Genetic_Alliance:Orofaciodigital+syndromes/5428|Genetic_Testing_Registry_(GTR):GTR000322591|Genetic_Testing_Registry_(GTR):GTR000500143|Genetic_Testing_Registry_(GTR):GTR000500190|Genetic_Testing_Registry_(GTR):GTR000501489|Genetic_Testing_Registry_(GTR):GTR000501490|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000514882|Genetic_Testing_Registry_(GTR):GTR000519097|Genetic_Testing_Registry_(GTR):GTR000520051|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000528542|Genetic_Testing_Registry_(GTR):GTR000552165|MedGen:C1510460|OMIM:311200|Office_of_Rare_Diseases:4121|Orphanet:2750|SNOMED_CT:52868006 +X 22094005 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10818;RCV=RCV000011565;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets|HYPOPHOSPHATEMIC_RICKETS..X-LINKED_DOMINANT;ALL_PMIDS=22319799..7550339..9106524;AGE_OF_ONSET=Childhood;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 +X 22094009 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10818;RCV=RCV000011565;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets|HYPOPHOSPHATEMIC_RICKETS..X-LINKED_DOMINANT;ALL_PMIDS=22319799..7550339..9106524;AGE_OF_ONSET=Childhood;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 +X 101403846 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10723;RCV=RCV000011470;ALLELE_ID=38452;SYMBOL=RPL36A-HNRNPH2;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Fabry_disease|FABRY_DISEASE;ALL_PMIDS=12735292..1315715..16980809..20301469..20505683..20610207..21934708..23788249..23860966..25173338..25355838..25356965..27854360;INHERITANCE_MODES=Autosomal_recessive_inheritance|X-linked_inheritance|X-linked_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;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):GTR000311196|Genetic_Testing_Registry_(GTR):GTR000325415|Genetic_Testing_Registry_(GTR):GTR000326183|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000330580|Genetic_Testing_Registry_(GTR):GTR000337467|Genetic_Testing_Registry_(GTR):GTR000500007|Genetic_Testing_Registry_(GTR):GTR000500441|Genetic_Testing_Registry_(GTR):GTR000502877|Genetic_Testing_Registry_(GTR):GTR000502896|Genetic_Testing_Registry_(GTR):GTR000502949|Genetic_Testing_Registry_(GTR):GTR000502955|Genetic_Testing_Registry_(GTR):GTR000503037|Genetic_Testing_Registry_(GTR):GTR000503042|Genetic_Testing_Registry_(GTR):GTR000503199|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|Genetics_Home_Reference:fabry-disease|MedGen:C0002986|OMIM:301500|Office_of_Rare_Diseases:6400|Orphanet:324|SNOMED_CT:16652001 +X 101403984 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10723;RCV=RCV000011470;ALLELE_ID=25762;SYMBOL=RPL36A-HNRNPH2;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Fabry_disease|FABRY_DISEASE;ALL_PMIDS=12735292..1315715..16980809..20301469..20505683..20610207..21934708..23788249..23860966..25173338..25355838..25356965..27854360;INHERITANCE_MODES=Autosomal_recessive_inheritance|X-linked_inheritance|X-linked_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;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):GTR000311196|Genetic_Testing_Registry_(GTR):GTR000325415|Genetic_Testing_Registry_(GTR):GTR000326183|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000330580|Genetic_Testing_Registry_(GTR):GTR000337467|Genetic_Testing_Registry_(GTR):GTR000500007|Genetic_Testing_Registry_(GTR):GTR000500441|Genetic_Testing_Registry_(GTR):GTR000502877|Genetic_Testing_Registry_(GTR):GTR000502896|Genetic_Testing_Registry_(GTR):GTR000502949|Genetic_Testing_Registry_(GTR):GTR000502955|Genetic_Testing_Registry_(GTR):GTR000503037|Genetic_Testing_Registry_(GTR):GTR000503042|Genetic_Testing_Registry_(GTR):GTR000503199|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|Genetics_Home_Reference:fabry-disease|MedGen:C0002986|OMIM:301500|Office_of_Rare_Diseases:6400|Orphanet:324|SNOMED_CT:16652001 +X 108580713 . G T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10464;RCV=RCV000011210;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Alport_syndrome..X-linked_recessive|ALPORT_SYNDROME..X-LINKED;ALL_PMIDS=20301386..22166944..7706490..9195222;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome/335|MedGen:C1567742|OMIM:301050|Orphanet:63|Orphanet:88917 +X 108686096 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10464;RCV=RCV000011210;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Alport_syndrome..X-linked_recessive|ALPORT_SYNDROME..X-LINKED;ALL_PMIDS=20301386..22166944..7706490..9195222;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome/335|MedGen:C1567742|OMIM:301050|Orphanet:63|Orphanet:88917 +X 136656393 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=11158;RCV=RCV000011908;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +X 136656395 . A G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=11158;RCV=RCV000011908;ALLELE_ID=38454;SYMBOL=CD40LG;HGVS_C=NM_000074.2:c.386A>G;HGVS_P=NP_000065.1:p.Glu129Gly;MOLECULAR_CONSEQUENCE=NM_000074.2:c.386A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=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 +X 149482933 . C G . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10502;RCV=RCV000011248;ALLELE_ID=25541;SYMBOL=IDS;HGVS_C=NM_000202.7:c.1466G>C;HGVS_P=NP_000193.1:p.Gly489Ala;MOLECULAR_CONSEQUENCE=NM_000202.7:c.1466G>C:missense_variant;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Mucopolysaccharidosis..MPS-II|MUCOPOLYSACCHARIDOSIS..TYPE_II;ALL_PMIDS=12794697..20301451..21863056..25071396;INHERITANCE_MODES=X-linked_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|Genetic_Testing_Registry_(GTR):GTR000317503|Genetic_Testing_Registry_(GTR):GTR000502138|Genetic_Testing_Registry_(GTR):GTR000502487|Genetic_Testing_Registry_(GTR):GTR000502489|Genetic_Testing_Registry_(GTR):GTR000502916|Genetic_Testing_Registry_(GTR):GTR000506477|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000520051|Genetic_Testing_Registry_(GTR):GTR000521892|Genetic_Testing_Registry_(GTR):GTR000522252|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000551442|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009 +X 149482935 . C A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10502;RCV=RCV000011248;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Mucopolysaccharidosis..MPS-II|MUCOPOLYSACCHARIDOSIS..TYPE_II;ALL_PMIDS=12794697..20301451..21863056..25071396;INHERITANCE_MODES=X-linked_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|Genetic_Testing_Registry_(GTR):GTR000317503|Genetic_Testing_Registry_(GTR):GTR000502138|Genetic_Testing_Registry_(GTR):GTR000502487|Genetic_Testing_Registry_(GTR):GTR000502489|Genetic_Testing_Registry_(GTR):GTR000502916|Genetic_Testing_Registry_(GTR):GTR000506477|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000520051|Genetic_Testing_Registry_(GTR):GTR000521892|Genetic_Testing_Registry_(GTR):GTR000522252|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000551442|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009 +X 149482996 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=221203;RCV=RCV000204179;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;ALL_TRAITS=Mucopolysaccharidosis..MPS-II;ALL_PMIDS=18414213..20301451..21863056..25071396;INHERITANCE_MODES=X-linked_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=maternal;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|Genetic_Testing_Registry_(GTR):GTR000317503|Genetic_Testing_Registry_(GTR):GTR000502138|Genetic_Testing_Registry_(GTR):GTR000502487|Genetic_Testing_Registry_(GTR):GTR000502489|Genetic_Testing_Registry_(GTR):GTR000502916|Genetic_Testing_Registry_(GTR):GTR000506477|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000520051|Genetic_Testing_Registry_(GTR):GTR000521892|Genetic_Testing_Registry_(GTR):GTR000522252|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000551442|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009 +X 149483005 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=221203;RCV=RCV000204179;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;ALL_TRAITS=Mucopolysaccharidosis..MPS-II;ALL_PMIDS=18414213..20301451..21863056..25071396;INHERITANCE_MODES=X-linked_recessive_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=maternal;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|Genetic_Testing_Registry_(GTR):GTR000317503|Genetic_Testing_Registry_(GTR):GTR000502138|Genetic_Testing_Registry_(GTR):GTR000502487|Genetic_Testing_Registry_(GTR):GTR000502489|Genetic_Testing_Registry_(GTR):GTR000502916|Genetic_Testing_Registry_(GTR):GTR000506477|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000520051|Genetic_Testing_Registry_(GTR):GTR000521892|Genetic_Testing_Registry_(GTR):GTR000522252|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000551442|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009 +X 154534390 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10392;RCV=RCV000011127;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664..4125296;ORIGIN=germline;XREFS=MedGen:C4016535 +X 154534438 . G A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10392;RCV=RCV000011127;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664..4125296;ORIGIN=germline;XREFS=MedGen:C4016535 +X 154534440 . T A . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10382;RCV=RCV000011109;ALLELE_ID=25421;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.632A>T;HGVS_P=NP_000393.4:p.Asp211Val;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.542A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic|other;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM;ALL_TRAITS=G6PD_SANTAMARIA|G6PD_SANTAMARIA;ALL_PMIDS=1999409..6433630..8956035;ORIGIN=germline;XREFS=OMIM:305900.0023 +X 154535277 . T C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10361|10382;RCV=RCV000011075|RCV000011076|RCV000011077|RCV000011078|RCV000011079|RCV000011109;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=Likely_benign|Pathogenic|not_provided|other;PATHOGENIC=1;BENIGN=1;CONFLICTED=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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..1924316..1972698..1999409..2253938..2572288..2836867..2840819..3967887..5448..6015571..7106752..7221827..7291768..903703|1999409..6433630..8956035;INHERITANCE_MODES=X-linked_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096|Genetic_Testing_Registry_(GTR):GTR000500957|Genetic_Testing_Registry_(GTR):GTR000503100|Genetic_Testing_Registry_(GTR):GTR000503114|Genetic_Testing_Registry_(GTR):GTR000520114|Genetics_Home_Reference:glucose-6-phosphate-dehydrogenase-deficiency|MedGen:C0017758|Office_of_Rare_Diseases:6520|OMIM:305900.0002|OMIM:305900.0023 +X 154535336 . G C . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10392;RCV=RCV000011127;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=not_reported_for_simple_variant;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664..4125296;ORIGIN=germline;XREFS=MedGen:C4016535 +X 154536002 . C T . . MEASURESET_TYPE=Haplotype;MEASURESET_ID=10361;RCV=RCV000011075|RCV000011076|RCV000011077|RCV000011078|RCV000011079;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=reviewed_by_expert_panel;GOLD_STARS=3;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Glucose_6_phosphate_dehydrogenase_deficiency|G6PD_A-|G6PD_BETICA|G6PD_CASTILLA|G6PD_DISTRITO_FEDERAL|G6PD_TEPIC;ALL_PMIDS=10734064..1303173..1924316..1972698..1999409..2253938..2572288..2836867..2840819..3967887..5448..6015571..7106752..7221827..7291768..903703;INHERITANCE_MODES=X-linked_recessive_inheritance;ORIGIN=germline;XREFS=Genetic_Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096|Genetic_Testing_Registry_(GTR):GTR000500957|Genetic_Testing_Registry_(GTR):GTR000503100|Genetic_Testing_Registry_(GTR):GTR000503114|Genetic_Testing_Registry_(GTR):GTR000520114|Genetics_Home_Reference:glucose-6-phosphate-dehydrogenase-deficiency|MedGen:C0017758|Office_of_Rare_Diseases:6520|OMIM:305900.0002 diff --git a/output/b38/multi/clinvar_alleles_stats.multi.b38.txt b/output/b38/multi/clinvar_alleles_stats.multi.b38.txt index 797ccb8..b50a7a0 100644 --- a/output/b38/multi/clinvar_alleles_stats.multi.b38.txt +++ b/output/b38/multi/clinvar_alleles_stats.multi.b38.txt @@ -1,192 +1,581 @@ -Columns: 1: chrom, 2: pos, 3: ref, 4: alt, 5: measureset_type, 6: measureset_id, 7: rcv, 8: allele_id, 9: symbol, 10: hgvs_c, 11: hgvs_p, 12: molecular_consequence, 13: clinical_significance, 14: pathogenic, 15: benign, 16: conflicted, 17: review_status, 18: gold_stars, 19: all_submitters, 20: all_traits, 21: all_pmids, 22: inheritance_modes, 23: age_of_onset, 24: prevalence, 25: disease_mechanism, 26: origin, 27: xrefs +Columns: 1: chrom, 2: pos, 3: ref, 4: alt, 5: measureset_type, 6: measureset_id, 7: rcv, 8: allele_id, 9: symbol, 10: hgvs_c, 11: hgvs_p, 12: molecular_consequence, 13: clinical_significance, 14: pathogenic, 15: benign, 16: conflicted, 17: review_status, 18: last_evaluated, 19: gold_stars, 20: all_submitters, 21: all_traits, 22: all_pmids, 23: inheritance_modes, 24: age_of_onset, 25: prevalence, 26: disease_mechanism, 27: origin, 28: xrefs ================ -Total Rows: 767 +Total Rows: 516 ================ column 5: measureset_type - 437 Haplotype - 323 CompoundHeterozygote - 11 Phase unknown - 2 Distinct chromosomes + 444 Haplotype + 59 CompoundHeterozygote + 11 Phase unknown + 2 Distinct chromosomes ================ column 13: clinical_significance - 450 not reported for simple variant - 198 Pathogenic - 50 Uncertain significance - 45 not provided - 44 Benign - 43 Likely benign - 36 Likely pathogenic - 30 other - 7 drug response - 4 risk factor - 3 protective + 294 not reported for simple variant + 124 Pathogenic + 41 Benign + 39 not provided + 36 Uncertain significance + 36 Likely benign + 30 other + 16 Likely pathogenic + 7 drug response + 3 risk factor + 3 protective ================ column 14: pathogenic - 557 0 - 210 1 + 386 0 + 130 1 ================ column 15: benign - 702 0 - 65 1 + 460 0 + 56 1 ================ column 16: conflicted - 757 0 - 10 1 + 507 0 + 9 1 ================ column 17: review_status - 448 no assertion for the individual variant - 118 no assertion criteria provided - 81 criteria provided, single submitter - 67 criteria provided, multiple submitters, no conflicts - 38 criteria provided, conflicting interpretations - 10 no assertion provided - 4 reviewed by expert panel - 1 practice guideline + 292 no assertion for the individual variant + 85 no assertion criteria provided + 51 criteria provided, multiple submitters, no conflicts + 45 criteria provided, single submitter + 29 criteria provided, conflicting interpretations + 9 no assertion provided + 4 reviewed by expert panel + 1 practice guideline ================ -column 18: gold_stars - 576 0 - 119 1 - 67 2 - 4 3 - 1 4 +column 18: last_evaluated + 32 Jun 14, 2016 + 27 Jul 20, 2016 + 26 - + 15 Dec 04, 2012 + 9 Jan 01, 2016 + 8 May 18, 2015 + 7 Feb 04, 2013 + 6 Nov 27, 2014 + 6 May 10, 2012 + 6 Jan 08, 2013 + 4 Nov 08, 2016 + 4 Mar 25, 2016 + 4 Jul 08, 2015 + 4 Jan 08, 2015 + 4 Jan 01, 2007 + 4 Feb 10, 2011 + 4 Dec 01, 2015 + 4 Aug 29, 2013 + 4 Aug 08, 2016 + 3 Sep 23, 2016 + 3 Sep 22, 2016 + 3 Sep 13, 2016 + 3 Nov 21, 2016 + 3 Nov 05, 2014 + 3 Jun 17, 2016 + 3 Jul 02, 2013 + 3 Jan 01, 2000 + 3 Jan 01, 1997 + 3 Jan 01, 1994 + 3 Feb 01, 2002 + 3 Aug 29, 2016 + 3 Aug 15, 2000 + 3 Aug 12, 2016 + 3 Aug 01, 1995 + 2 Sep 30, 2016 + 2 Sep 27, 2013 + 2 Sep 26, 2006 + 2 Sep 14, 2016 + 2 Sep 06, 2016 + 2 Sep 03, 2015 + 2 Sep 01, 2013 + 2 Sep 01, 2009 + 2 Sep 01, 2007 + 2 Sep 01, 2006 + 2 Oct 31, 2016 + 2 Oct 29, 2015 + 2 Oct 18, 2012 + 2 Oct 17, 2016 + 2 Oct 09, 2016 + 2 Oct 08, 2010 + 2 Oct 01, 2015 + 2 Oct 01, 2014 + 2 Oct 01, 2001 + 2 Nov 18, 2014 + 2 Nov 01, 2013 + 2 Nov 01, 2004 + 2 Nov 01, 1992 + 2 May 31, 2011 + 2 May 28, 2016 + 2 May 25, 2016 + 2 May 17, 2011 + 2 May 13, 2016 + 2 May 11, 2016 + 2 May 09, 2013 + 2 May 08, 2008 + 2 May 07, 2015 + 2 May 01, 2013 + 2 May 01, 1998 + 2 May 01, 1993 + 2 Mar 26, 2015 + 2 Mar 19, 2009 + 2 Mar 16, 2016 + 2 Mar 03, 2011 + 2 Mar 01, 2013 + 2 Mar 01, 2003 + 2 Mar 01, 1997 + 2 Jun 15, 2006 + 2 Jun 07, 2016 + 2 Jun 01, 2015 + 2 Jun 01, 2006 + 2 Jul 31, 2016 + 2 Jul 25, 2014 + 2 Jul 24, 2012 + 2 Jul 15, 2016 + 2 Jul 14, 2014 + 2 Jul 12, 2016 + 2 Jul 11, 2016 + 2 Jul 01, 2009 + 2 Jul 01, 2008 + 2 Jul 01, 2003 + 2 Jul 01, 1997 + 2 Jul 01, 1996 + 2 Jan 29, 1993 + 2 Jan 09, 2017 + 2 Jan 09, 2015 + 2 Jan 01, 1999 + 2 Jan 01, 1998 + 2 Jan 01, 1993 + 2 Feb 29, 2016 + 2 Feb 24, 1997 + 2 Feb 21, 2017 + 2 Feb 19, 2013 + 2 Feb 15, 2017 + 2 Feb 10, 2017 + 2 Feb 08, 2017 + 2 Feb 08, 2013 + 2 Feb 01, 1993 + 2 Dec 31, 2016 + 2 Dec 28, 2016 + 2 Dec 24, 2015 + 2 Dec 18, 2015 + 2 Dec 15, 2016 + 2 Dec 10, 2015 + 2 Dec 09, 2014 + 2 Dec 03, 2015 + 2 Dec 01, 2009 + 2 Dec 01, 1997 + 2 Aug 31, 2016 + 2 Aug 30, 2016 + 2 Aug 18, 2016 + 2 Aug 18, 2014 + 2 Aug 01, 1992 + 2 Apr 20, 2016 + 2 Apr 18, 2006 + 2 Apr 15, 1997 + 2 Apr 14, 2015 + 2 Apr 08, 2016 + 2 Apr 08, 2015 + 2 Apr 04, 2014 + 2 Apr 03, 2016 + 2 Apr 02, 2015 + 2 Apr 01, 2006 + 2 Apr 01, 2005 + 2 Apr 01, 1997 + 1 Sep 28, 2016 + 1 Sep 25, 2013 + 1 Sep 16, 2016 + 1 Sep 15, 2005 + 1 Sep 10, 2015 + 1 Sep 10, 2014 + 1 Sep 08, 2009 + 1 Sep 07, 2012 + 1 Sep 03, 2002 + 1 Sep 01, 1993 + 1 Oct 20, 2015 + 1 Oct 08, 2012 + 1 Oct 03, 2016 + 1 Nov 18, 2016 + 1 Nov 01, 1998 + 1 Nov 01, 1989 + 1 Nov 01, 1977 + 1 May 23, 2006 + 1 May 20, 2015 + 1 May 16, 2007 + 1 May 13, 2015 + 1 May 12, 2015 + 1 May 11, 2005 + 1 May 03, 2016 + 1 May 01, 2005 + 1 Mar 27, 2016 + 1 Mar 24, 2016 + 1 Mar 11, 2016 + 1 Mar 10, 2016 + 1 Mar 10, 2015 + 1 Mar 02, 2015 + 1 Mar 01, 2011 + 1 Mar 01, 2006 + 1 Mar 01, 2004 + 1 Jun 27, 2016 + 1 Jun 12, 2014 + 1 Jun 09, 2010 + 1 Jun 01, 2014 + 1 Jun 01, 2009 + 1 Jun 01, 2004 + 1 Jun 01, 1997 + 1 Jun 01, 1992 + 1 Jul 27, 2016 + 1 Jul 21, 2015 + 1 Jul 18, 2014 + 1 Jul 15, 2011 + 1 Jul 14, 2016 + 1 Jul 10, 2015 + 1 Jul 09, 2015 + 1 Jul 08, 2016 + 1 Jul 03, 2013 + 1 Jul 01, 2016 + 1 Jul 01, 2015 + 1 Jul 01, 2004 + 1 Jan 24, 2013 + 1 Jan 21, 2015 + 1 Jan 20, 2015 + 1 Jan 11, 1991 + 1 Jan 05, 2010 + 1 Feb 26, 2016 + 1 Feb 26, 2015 + 1 Feb 22, 2013 + 1 Feb 18, 2016 + 1 Feb 17, 2014 + 1 Feb 15, 2016 + 1 Feb 14, 2017 + 1 Feb 02, 2015 + 1 Feb 01, 2013 + 1 Feb 01, 2006 + 1 Feb 01, 2003 + 1 Feb 01, 2000 + 1 Dec 29, 2016 + 1 Dec 17, 2013 + 1 Dec 14, 2016 + 1 Dec 12, 2014 + 1 Dec 08, 2016 + 1 Dec 02, 2013 + 1 Dec 01, 2013 + 1 Aug 30, 2013 + 1 Aug 23, 2016 + 1 Aug 11, 2015 + 1 Aug 10, 2015 + 1 Aug 07, 2014 + 1 Aug 05, 2016 + 1 Aug 05, 2008 + 1 Aug 02, 2016 + 1 Aug 01, 1998 + 1 Aug 01, 1993 + 1 Apr 26, 2016 + 1 Apr 18, 2013 + 1 Apr 10, 2014 + 1 Apr 01, 1995 + 1 Apr 01, 1984 ================ -column 19: all_submitters - 306 OMIM - 93 UCLA Clinical Genomics Center, UCLA - 43 GeneReviews - 37 Center for Genetic Medicine Research,Children's National Medical Center - 36 Mendelics Analise Genomica - 20 ARUP Institute,ARUP Laboratories - 19 Laboratory of Prof. Karen Avraham,Tel Aviv University - 18 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital - 16 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine - 16 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire - 15 Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale - 13 University of Washington Center for Mendelian Genomics, University of Washington - 11 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics - 9 Colsan,Colsan - 8 Medical Research Institute,Tokyo Medical and Dental University - 8 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health - 7 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg - 6 Section of Medical Genetics, Telemark Hospital - 6 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine - 6 Clinical Biochemistry Laboratory,Health Services Laboratory - 5 Tuberous sclerosis database (TSC2) - 5 Metabolic Research Unit,Children's University Hospital Muenster - 4 Eye Genetics Research Group,Children's Medical Research Institute - 3 Shaikh Laboratory, University of Colorado - 3 Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center - 3 Genetic Diagnostic Laboratory,University of Szeged - 2 emedgene Technologies - 2 Science and Research Branch, Islamic Azad University,Islamic Azad University - 2 RettBASE - 2 Research Centre for Medical Genetics - 2 Puck Laboratory, University of California, San Francisco - 2 Neurogenetics Research, Murdoch Childrens Research Institute - 2 NCBI curation - 2 Molecular Genetics and RNA Biology, Humanitas University - 2 Manipal Health Enterprises Pvt Ltd, Manipal Hospital - 2 Laboratory of Molecular Genetics,National Institutes of Health - 2 Laboratory of Molecular Genetics,CHU RENNES - 2 Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes - 2 Laboratorio de Medicina Genomica, Hospital General de Culiacan - 2 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata - 2 LDLR-LOVD, British Heart Foundation - 2 Innovations Lab, Hyderabad,Tata Consultancy Services Ltd - 2 Human Genetics Disease in Children – Taif University,Taif University - 2 HerediLab, Inc. - 2 Genomic Research Center,Shahid Beheshti University of Medical Sciences - 2 Genetics of Mitochondrial Disorders,HelmholtzZentrum Munchen - 2 Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong - 2 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - 2 Dr. Guy Rouleau's laboratory,McGill University - 2 Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS - 2 Department of Neurology,Children's Hospital of Fudan University - 2 Department of Medical Genetics,Oslo University Hospital - 2 Department of Human Genetics,McGill University - 2 Collagen Diagnostic Laboratory - 2 Clinical Genetics, Erasmus University Medical Center - 2 Bone Marrow Failure laboratory,Queen Mary University London - 2 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare - 2 Biochimie-Hormonologie,Robert Debre Hospital - 2 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University - 2 Baylor Miraca Genetics Laboratories - 2 Abrahams Lab,Albert Einstein College of Medicine - 2 ARUP Laboratories, Molecular Genetics and Genomics - 1 Medical Genomics Laboratory,Department of Genetics UAB - 1 Klein lab,Ludwig-Maximilians-University - 1 CFTR2 +column 19: gold_stars + 386 0 + 74 1 + 51 2 + 4 3 + 1 4 ================ -column 22: inheritance_modes - 489 - 199 Autosomal recessive inheritance - 72 Autosomal dominant inheritance - 8 X-linked recessive inheritance - 4 Sporadic - 3 X-linked inheritance - 2 X-linked dominant inheritance - 2 Codominant +column 22: all_pmids + 22 + 10 24033266 + 8 23261301 + 7 28118664 + 7 25741868 + 6 24579654 + 6 20301728 + 5 23273567 + 4 20301532,25025039 + 4 11093272,12915679,20301350,7629224 + 4 10400129,15776412,20301497,22378278,22475884 + 3 9683616 + 3 9222756 + 3 27854218 + 3 20301350,25741868 + 3 15623806,20301350,2249999,2845408 + 3 1353664,4125296 + 3 11835375,20301462,9222756 + 3 11739416,19469690,20301434,21863057,23788249,24893135,25356965,25394175,27854360,3078962,7907913,8099202,8103403,8918855 + 3 11001917,23479567,9827909 + 3 10942404,23016163 + 3 10685993,1437405,1594045,1972019,20301446,2349952,2914709,7857677,8929950 + 3 10685993,1437405,1594045,18197057,1972019,19888064,20301446,2349952,2914709,7857677,8929950 + 3 10400129,15060693,15776412,20301497,22378278,22475884 + 3 10330344,11159935,20301726 + 2 9915949 + 2 9814506 + 2 9671268 + 2 9537424 + 2 9109432 + 2 9070911 + 2 9042911 + 2 893139 + 2 8432868 + 2 8219240 + 2 7951254 + 2 7903454,7927337 + 2 7860732 + 2 6323533 + 2 5085670 + 2 3841063 + 2 3304460,9361033 + 2 27989324 + 2 27745835 + 2 27352967 + 2 27153399 + 2 27132593 + 2 27061120 + 2 26903630 + 2 26833330 + 2 26694549 + 2 26657938 + 2 26639818 + 2 26637979 + 2 26527198,28118664 + 2 26468571 + 2 2634673 + 2 26246518 + 2 25913036 + 2 25589244 + 2 25351951 + 2 25193783,9324076 + 2 2519378 + 2 24848070,9760199 + 2 24156116 + 2 23830146 + 2 23479567,9718354 + 2 23421845,9226182 + 2 23359570 + 2 23315541 + 2 23239121,26544806 + 2 22962670,8664327 + 2 22962670,8488843 + 2 22962670,2470732,2738044,7586659 + 2 22617344,23975875,24033266 + 2 22319799,7550339,9106524 + 2 21956720,24123876 + 2 2189492,3467311,9166865 + 2 21698661 + 2 21634085,9215682 + 2 21500874,22962670,8488843 + 2 21500874 + 2 21483807 + 2 21343949,25741868 + 2 21276947,26942291,26942292,632821 + 2 21031595 + 2 20942,7852084 + 2 20818383,22072591,23553477,24088041,26633545 + 2 20647424,24206458 + 2 20301791,25741868 + 2 20301779 + 2 20301764 + 2 20301677,21915151,24385074,24667081,25741868 + 2 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+ 2 18004641,20301351,21533827 + 2 17726488,9419367 + 2 17705025,20301760 + 2 17460142,20301460,22547750 + 2 17436313,20301705 + 2 1730728,21500874,22962670,25333069,2539388,6860421 + 2 1714434 + 2 1713245 + 2 17096168,20050888,20301317,20301333 + 2 17000984,21343949 + 2 16912710 + 2 16839424,20301486,21810866 + 2 16673358,20301687,22258520 + 2 16606836,20301509,21682876 + 2 16570191,20301601 + 2 16565724 + 2 16527897 + 2 16411219,20301331,2783977 + 2 1634360,19257 + 2 15979919,20301635 + 2 15845031,18506894,20301685,20482602,27854360 + 2 15811315,18306170,20934285,21697855 + 2 15776412,20301497,22378278,22475884 + 2 15768550 + 2 15690354,20301446 + 2 15685488,20301692,24121147 + 2 15666429 + 2 15477547,15824347,20301532,22189570,25025039 + 2 15470216,6166632 + 2 15208270,17909628 + 2 15182055 + 2 15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,7649546 + 2 15111592,15531312 + 2 14732627,14870754,16163667,16917943,20301325,23788249,25356965,27854360 + 2 14722581,16444274,20301299,23788249,24882528,25173340,25356965,27854360 + 2 14707518,15776412,20301497,22378278,22475884,9396567 + 2 14707518,15060693,19444543,20301351,21533827 + 2 14707518,15060693,15776412,20301497,22378278,22475884 + 2 14635115,20301742 + 2 1439789,15177124,21600525,22364837,23725921,23788249,24418289,24636176,25053660,25356965,25404096,27854360,8528204,9143924 + 2 14170898,6775529,8456556 + 2 1415222,2976595,8198136,8659543 + 2 13943409,5069596,5490239,5928902 + 2 1361196,1674745,22962670 + 2 1346492,1594605,3262827,4121586,830445,838841 + 2 12919135,18394004,20301421 + 2 12891677,15888660 + 2 12858176,15827106,16091483,16817821,17062770 + 2 12794697,20301451,21863056,25071396 + 2 12735292,1315715,16980809,20301469,20505683,20610207,21934708,23788249,23860966,25173338,25355838,25356965,27854360 + 2 12586610 + 2 12509788,21370513 + 2 12439895,15258581 + 2 12359137,20083419,20301497,22378278,22475884 + 2 1225575,893143 + 2 12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20301407,7709737,9751723 + 2 12205650,1353341,1353342,1353344,1439789,1469441,16227536,1671440,1671983,1684756,19038218,20298421,20301407,7709737,9751723 + 2 12181489 + 2 11857564,20301647 + 2 1177278,1244906,12709369,15108284,16370495,16540414,19440680,19460936,20437613,20704537,20838957,21119755,2930724,4613830,640855,893136 + 2 1177278,1244906,12709369,15108284,16370495,16540414,1787096,19440680,19460936,20437613,20704537,20838957,21119755,2930724,4613830,640855,893136 + 2 11739416,11788682,19469690,20301434,21863057,23788249,24893135,25356965,27854360,8797874,8918855 + 2 11668630,15776412,20301497,22378278,22475884,9396567 + 2 11666007,20004762 + 2 11598466,15604628,20301519,21368914,21813476,23788249,24310308,25356965,25452455,25645574,27087319,27854360 + 2 11570725,1177278,1244906,12709369,15108284,16370495,16540414,19440680,19460936,20437613,20704537,20838957,21119755,2930724,4613830,640855,893136 + 2 11519011 + 2 11468687,20301399,23519317,23788249 + 2 11280952,12394352,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,7679367,9580754 + 2 11280952,12394352,15744523,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,24014130,25431289,25981758,8528204,9580754 + 2 1112610,11179419,11939508,14282052,15108284,15502081,15543018,15710580,15710581,1732017,18254282,19783722,20704537,20854120,2930724,3859465,5481775,5915974,6716421,8195007,893136,9049622,9834244 + 2 10973849,12820704,14678125,1475667,14756674,20301308,21810866,23788249,25356965,27854360,8528244,9386136 + 2 10958761,10958763,12796258,16103129,28118664 + 2 10930446,20298421,20301669 + 2 10870883 + 2 10807545,11463728,11997281,12569159,12639704,14760,18378609,23788249,23994779 + 2 10802661,16104012,20301675 + 2 10801053,15776412,16435182,20301497,22378278,22475884 + 2 10790204,20301763,27209629 + 2 10746566,22972948 + 2 10734064,1303173,1924316,1972698,1999409,2253938,2572288,2836867,2840819,3967887,5448,6015571,7106752,7221827,7291768,903703 + 2 10731151,11264153,12697743,15208270,17909628,23716478 + 2 10652016 + 2 10647719,11565546,9097965,9618177 + 2 10618304,19251209,20129283,20301690,21321465,21810866,23788249,25356965,27854360,9521325 + 2 10607953,10983956,12746422,15070423,17041943,17666888,20083784,20201936,20668687,21298213,23826813,24033266,9529365 + 2 10543395,1778977,19444287 + 2 10532948,15851227,18599870,19841300,20129283,20301690,21810866,23788249,25356965,27854360 + 2 10485731,10896299,11809920,20301282,22126753 + 2 10485731 + 2 10408771,10424825,19224951,2011574,4759900,8522334,9012409 + 2 10408771,10424825,10649501,11216901,11286503,11754113,15633893,15841485,16838075,19224951,2011574,20301691,22475884 + 2 10400129,15776412,20301497,21228398,22378278,22475884,7509806,9375914,9654207 + 2 10400129,15776412,16435182,20301497,22378278,22475884,9396567 + 2 10400129,10801053,15776412,16435182,20301497,22378278,22475884,9396567 + 2 10335988,15008267,16178917,18932067,2079433,5097135,640855 + 2 10208641,12880540,15819814,15967990,8561894,8644731,9177237,9336428,9931345,9931346 + 2 10203101,1112610,11179419,14282052,15108284,15502081,15543018,15710580,15710581,1732017,18254282,19783722,20704537,20854120,25052315,2930724,3859465,5481775,5915974,6716421,8195007,893136,9049622,9834244 + 2 10199775,10323405,10739843,12620433,1727817,7714098,7904610,8784083 + 2 10090476,20301431,25173338 + 2 10090474,23519317 + 2 10079102,11903352,15146461,18197057,1864608,19888064,20301446 + 2 10024914,10090880,10364520,10612841,10787449,10980540,11484206,11938447,12401847,12929299,12955725,15942916,16255051,17331080,18097735,19967574,20041150,20534143,9668175 + 2 1,12560944,15633193,20301449,20301607,20497192,24785414 + 2 1,10,15604628,17392385,17508274,17924331,19305347,20,20065170,20301425,23188549,23788249,23918944,24366376,24366402,24432435,24493721,25356965,25394175,27008870,27854360,3,548,70 + 1 8220426 + 1 3191036 + 1 26833332 + 1 2478590 + 1 24753537 + 1 2309708,6162902 + 1 20301386,22166944 + 1 1849260 + 1 16717225,20050888,20301317,20301333 + 1 16240358,20301402,23279440 + 1 15798777,20301399,23519317,23788249 + 1 15759211 + 1 15221448,20301367 + 1 1511986 + 1 11810296,12073024,17188046,19581274 + 1 11280952,12394352,15789152,17761616,19888064,19914443,19914445,20301428,20605539,20675678,21422883,21938795,22475884,23974870,24014130,25431289,25981758,9580754 + 1 10862084,15604628,17636453,20065170,20301288,24893135,26189818 ================ -column 23: age_of_onset - 331 - 164 Infancy - 95 Childhood - 60 Adolescent - 56 All ages - 31 Adult - 28 Neonatal - 16 Antenatal - 2 Neonatal/infancy +column 23: inheritance_modes + 338 + 115 Autosomal recessive inheritance + 56 Autosomal dominant inheritance + 8 X-linked recessive inheritance + 3 X-linked inheritance + 2 Codominant ================ -column 24: prevalence - 378 - 146 <1 / 1 000 000 - 111 1-9 / 100 000 - 90 1-9 / 1 000 000 - 32 1-5 / 10 000 - 5 1:3200 - 5 1 in 2000-4000 depending on the population studied. - 4 Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. - 4 The precise incidence and prevalence of CCD, considered to be the most frequently occurring congenital myopathy, are unknown. - 4 Rare - 63 per million - 4 >1 / 1000 - 4 1 per million - 2 unknown, <1 per million - 2 The overall prevalence of hereditary neuropathies is estimated at approximately 3:10,000 population. About 30% of these individuals (1:10,000) may have CMT2. The prevalence of the various subtypes of CMT2 is unknown - 2 The frequency of NBIA is estimated to be approximately 1-3/1,000,000 individuals. - 2 Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. - 2 DI-CMTB is a rare cause of CMT. Up to 3.4% of CMT is caused by a DNM2 mutation - 2 DFNB1 accounts for approximately 50% of congenital, severe-to-profound, autosomal recessive nonsyndromic hearing loss in the United States, France, Britain, and New Zealand/Australia [Denoyelle et al 1997, Green et al 1999]. Its approximate prevalence in the general population is 14:100,000, based on the following calculation: the incidence of congenital hereditary hearing impairment is 1:2000 neonates, of which 70% have nonsyndromic hearing loss. Seventy-five to 80% of cases of nonsyndromic hearing loss are autosomal recessive: of these, 50% result from GJB2 mutations. Thus, 5:10,000 x 0.7 x 0.8 x 0.5 = 14:100,000. - 2 Currently, CMT4A is considered the most frequent of all autosomal recessive forms of CMT. Molecular genetic testing has shown that the following proportion of individuals with CMT have two disease-causing GDAP1 alleles: 1% - 15% individuals depending on the studied population - 2 Congenital deafness affects 1 in 1,000 births. - 2 Congenital deafness affects 1 in 1,000 births - 2 Alelle frequencies: CYP2C9*2- Caucasians 15%, Hispanics 7%, African-Americans 3%, Asians 3%: CYP2C9*3- Caucasians 6%, Hispanics 6%, African-Americans 2%, Asians 4%: VKORC1*2 (-1639G>A) - Caucasians 41%, Hispanics 44%, African-Americans 11%, Asians 90%. - 2 2:100 000 in Finland, 0,26:100 000 in the North of England - 2 2.29 to 3.2 per 100,000 individuals - 2 1:30,000 in males and 1:125,000 in females - 2 1:100,000 live births. Carrier frequency is estimated to be 1:150. - 2 1/200,000 - 2 1.3 per 100,000 - 2 1 in 248,000 (in combination with Niemann-Pick A) - 2 1 - 9 / 100 000 - 1 Estimates range from 1:250,000 to 1:50,000. - 1 1:3,000 +column 24: age_of_onset + 246 + 86 Infancy + 67 Childhood + 38 All ages + 33 Adolescent + 20 Neonatal + 20 Adult + 12 Antenatal ================ -column 25: disease_mechanism - 690 - 71 loss of function - 6 gain of function - 2 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A. +column 25: prevalence + 264 + 93 <1 / 1 000 000 + 83 1-9 / 100 000 + 47 1-9 / 1 000 000 + 23 1-5 / 10 000 + 5 1:3200 + 5 1 in 2000-4000 depending on the population studied. + 4 1 per million + 2 unknown, <1 per million + 2 Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. + 2 Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. + 2 DI-CMTB is a rare cause of CMT. Up to 3.4% of CMT is caused by a DNM2 mutation + 2 DFNB1 accounts for approximately 50% of congenital, severe-to-profound, autosomal recessive nonsyndromic hearing loss in the United States, France, Britain, and New Zealand/Australia [Denoyelle et al 1997, Green et al 1999]. Its approximate prevalence in the general population is 14:100,000, based on the following calculation: the incidence of congenital hereditary hearing impairment is 1:2000 neonates, of which 70% have nonsyndromic hearing loss. Seventy-five to 80% of cases of nonsyndromic hearing loss are autosomal recessive: of these, 50% result from GJB2 mutations. Thus, 5:10,000 x 0.7 x 0.8 x 0.5 = 14:100,000. + 2 Congenital deafness affects 1 in 1,000 births. + 2 Congenital deafness affects 1 in 1,000 births + 2 Alelle frequencies: CYP2C9*2- Caucasians 15%, Hispanics 7%, African-Americans 3%, Asians 3%: CYP2C9*3- Caucasians 6%, Hispanics 6%, African-Americans 2%, Asians 4%: VKORC1*2 (-1639G>A) - Caucasians 41%, Hispanics 44%, African-Americans 11%, Asians 90%. + 2 >1 / 1000 + 2 2.29 to 3.2 per 100,000 individuals + 2 1:30,000 in males and 1:125,000 in females + 2 1:100,000 live births. Carrier frequency is estimated to be 1:150. + 2 1.3 per 100,000 + 2 1 - 9 / 100 000 + 1 Estimates range from 1:250,000 to 1:50,000. + 1 1:3,000 ================ -column 26: origin - 551 germline - 90 unknown - 44 not provided - 42 inherited - 20 maternal - 8 de novo - 6 somatic - 6 paternal - 6 not applicable - 4 tested-inconclusive - 2 biparental +column 26: disease_mechanism + 469 + 43 loss of function + 4 gain of function + 2 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A. 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 old mode 100644 new mode 100755 index 49065e9..d8145cb 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 old mode 100644 new mode 100755 index 3ccbaaf..092d7d1 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 3328ce4..aa7940f 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 @@ -1,8 +1,12 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered review_status review_status_ordered all_submitters all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs 1 1014143 C T Variant 183381 RCV000162196 181485 ISG15 NM_005101.3:c.163C>T NP_005092.1:p.Gln55Ter NM_005101.3:c.163C>T:nonsense Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 +1 1014228 G A Variant 402986 RCV000455759 389314 ISG15 NM_005101.3:c.248G>A NP_005092.1:p.Ser83Asn NM_005101.3:c.248G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 1 1014316 C CG Variant 161455 RCV000148989 171289 ISG15 NM_005101.3:c.339dupG NP_005092.1:p.Leu114Alafs NM_005101.3:c.339dupG:frameshift variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 1,22859821,25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 1 1014359 G T Variant 161454 RCV000148988 171288 ISG15 NM_005101.3:c.379G>T NP_005092.1:p.Glu127Ter NM_005101.3:c.379G>T:nonsense Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 22859821,25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 -1 1020217 G T Variant 128310 RCV000116272 133759 AGRN NM_198576.3:c.45G>T NP_940978.2:p.Pro15= NM_198576.3:c.45G>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1020183 G C Variant 387476 RCV000424799 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1020216 C G Variant 377270 RCV000422793 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 +1 1020217 G T Variant 128310 RCV000116272 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1020221 C T Variant 388958 RCV000437701 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1020239 G C Variant 210112 RCV000193277 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1022188 A G Variant 263166 RCV000250556 249265 AGRN NM_198576.3:c.202-13A>G NM_198576.3:c.202-13A>G:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1022225 G A Variant 243036 RCV000235037 244110 AGRN NM_198576.3:c.226G>A NP_940978.2:p.Gly76Ser NM_198576.3:c.226G>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided GeneReviews Congenital myasthenic syndrome 20301347,24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 @@ -12,113 +16,143 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 1041174 C G Variant 263202 RCV000241878 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1041183 C T Variant 263203 RCV000246662 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1041218 C T Variant 263204 RCV000249809 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1041249 C T Variant 128320 RCV000116282 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Genetic Services Laboratory, University of Chicago not specified;AllHighlyPenetrant 18414213 germline MedGen:CN169374 +1 1041249 C T Variant 128320 RCV000116282 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified 18414213 germline MedGen:CN169374 1 1041582 C T Variant 126556 RCV000114428 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 22205389 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590 1 1041582 C T Variant 126556 RCV000235030 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1041583 A G Variant 128291 RCV000116253 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Likely benign Likely benign no assertion criteria provided no assertion criteria provided Genetic Services Laboratory, University of Chicago not specified;AllHighlyPenetrant germline MedGen:CN169374 +1 1041583 A G Variant 128291 RCV000116253 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified germline MedGen:CN169374 1 1041648 G T Variant 263158 RCV000243499 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 -1 1041950 T C Variant 128292 RCV000116254 133741 AGRN NM_198576.3:c.1178-6T>C NM_198576.3:c.1178-6T>C:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 +1 1041648 G T Variant 263158 RCV000430046 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 +1 1041950 T C Variant 128292 RCV000116254 133741 AGRN NM_198576.3:c.1178-6T>C NM_198576.3:c.1178-6T>C:intron variant Benign Benign;Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 1 1042136 T TC Variant 243038 RCV000235036 244112 AGRN NM_198576.3:c.1362dupC NP_940978.2:p.Ser455GlnfsTer8 NM_198576.3:c.1362dupC:frameshift variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 1 1042190 G A Variant 263159 RCV000251375 249309 AGRN NM_198576.3:c.1384+28G>A NM_198576.3:c.1384+28G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1043223 CCT C Variant 263160 RCV000244801 249310 AGRN NM_198576.3:c.1385-15_1385-14delCT NM_198576.3:c.1385-15_1385-14delCT:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1043248 C T Variant 263161 RCV000249555 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1043288 G A Variant 263162 RCV000254334 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1043382 G A Variant 263163 RCV000244472 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1043382 G A Variant 263163 RCV000244472 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 1 1043476 G A Variant 263164 RCV000249242 249314 AGRN NM_198576.3:c.1603+19G>A NM_198576.3:c.1603+19G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1043594 G A Variant 263165 RCV000254010 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1043930 G A Variant 390111 RCV000443642 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1044017 G A Variant 210106 RCV000192681 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 1 1044134 C G Variant 128293 RCV000116255 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1044176 G A Variant 263167 RCV000245482 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1044368 A T Variant 128294 RCV000116256 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 +1 1044368 A T Variant 128294 RCV000116256 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 1 1044455 G A Variant 263168 RCV000242021 249317 AGRN NM_198576.3:c.2254+16G>A NM_198576.3:c.2254+16G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045172 G A Variant 263169 RCV000245180 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045177 G A Variant 263170 RCV000249944 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045289 A G Variant 387477 RCV000419115 364327 AGRN NM_198576.3:c.2371+12A>G NM_198576.3:c.2371+12A>G:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1045393 C T Variant 128295 RCV000116257 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045444 G C Variant 190974 RCV000246474 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045460 C T Variant 210107 RCV000194095 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 criteria provided, single submitter criteria provided, single submitter Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 +1 1045486 T C Variant 389918 RCV000443602 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1045488 G A Variant 387869 RCV000424274 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1045568 C T Variant 263171 RCV000252843 249320 AGRN NM_198576.3:c.2536+45C>T NM_198576.3:c.2536+45C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045707 A G Variant 263172 RCV000243014 249321 AGRN NM_198576.3:c.2537-26A>G NM_198576.3:c.2537-26A>G:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045751 A G Variant 263173 RCV000247794 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045785 G A Variant 263174 RCV000252551 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045846 C T Variant 390809 RCV000425529 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1045948 C G Variant 263175 RCV000249068 249324 AGRN NM_198576.3:c.2681-16C>G NM_198576.3:c.2681-16C>G:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045965 C T Variant 263176 RCV000252248 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1045973 C T Variant 235570 RCV000224244 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 1 1046079 C T Variant 263177 RCV000244043 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1046488 C T Variant 263178 RCV000248800 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1046551 A G Variant 128297 RCV000116259 133746 AGRN NM_198576.3:c.3066A>G NP_940978.2:p.Ser1022= NM_198576.3:c.3066A>G:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 +1 1046551 A G Variant 128297 RCV000116259 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 1 1046562 C A Variant 263179 RCV000245361 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1046824 C T Variant 387478 RCV000429389 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1046833 G C Variant 128298 RCV000116260 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1046833 G C Variant 128298 RCV000431747 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 1 1046976 G A Variant 263180 RCV000253262 249329 AGRN NM_198576.3:c.3388+19G>A NM_198576.3:c.3388+19G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1047342 A G Variant 128299 RCV000116261 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1047403 T C Variant 128300 RCV000116262 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047464 G C Variant 128301 RCV000116263 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047561 T C Variant 263181 RCV000246305 249331 AGRN NM_198576.3:c.3517-12T>C NM_198576.3:c.3517-12T>C:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047614 T C Variant 128302 RCV000116264 133751 AGRN NM_198576.3:c.3558T>C NP_940978.2:p.Phe1186= NM_198576.3:c.3558T>C:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 +1 1047464 G C Variant 128301 RCV000116263 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1047561 T C Variant 263181 RCV000246305 249331 AGRN NM_198576.3:c.3517-12T>C NM_198576.3:c.3517-12T>C:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1047614 T C Variant 128302 RCV000116264 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 1 1047626 C T Variant 128303 RCV000116265 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1047841 C T Variant 390183 RCV000438400 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1047863 C T Variant 263182 RCV000247622 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1047876 C T Variant 210108 RCV000195120 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1048006 C T Variant 210109 RCV000192787 206695 AGRN NM_198576.3:c.3752-6C>T NM_198576.3:c.3752-6C>T:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 +1 1048079 C T Variant 390522 RCV000426153 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1048126 C T Variant 128304 RCV000116266 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1048224 C T Variant 128305 RCV000116267 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1048232 G A Variant 128306 RCV000116268 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1048877 C T Variant 210110 RCV000193826 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 criteria provided, single submitter criteria provided, single submitter Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 -1 1048922 T C Variant 128307 RCV000116269 133756 AGRN NM_198576.3:c.4161T>C NP_940978.2:p.Thr1387= NM_198576.3:c.4161T>C:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 +1 1048881 G T Variant 389927 RCV000438345 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1048892 C T Variant 392687 RCV000445318 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1048922 T C Variant 128307 RCV000116269 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 1 1049046 C T Variant 263183 RCV000248636 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1049070 A T Variant 263184 RCV000251783 249334 AGRN NM_198576.3:c.4298+11A>T NM_198576.3:c.4298+11A>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049076 C T Variant 387479 RCV000440496 364323 AGRN NM_198576.3:c.4298+17C>T NM_198576.3:c.4298+17C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1049289 C T Variant 263185 RCV000243502 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1049389 C T Variant 128308 RCV000116270 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049467 G C Variant 263186 RCV000253016 249336 AGRN NM_198576.3:c.4514+16G>C NM_198576.3:c.4514+16G>C:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049467 G C Variant 263186 RCV000253016 249336 AGRN NM_198576.3:c.4514+16G>C NM_198576.3:c.4514+16G>C:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 1 1049569 G A Variant 263187 RCV000244907 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1049591 G A Variant 128309 RCV000116271 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049690 G A Variant 252808 RCV000238604 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 criteria provided, single submitter criteria provided, single submitter Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 +1 1049690 G A Variant 252808 RCV000238604 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx not specified;not specified;not specified germline;unknown MedGen:CN169374 +1 1049746 G C Variant 387480 RCV000419307 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1049791 C T Variant 128311 RCV000116273 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049886 C T Variant 263188 RCV000250964 249338 AGRN NM_198576.3:c.4745-17C>T NM_198576.3:c.4745-17C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049886 C T Variant 263188 RCV000250964 249338 AGRN NM_198576.3:c.4745-17C>T NM_198576.3:c.4745-17C>T:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 1 1049927 GCCCCTGCCAGCCCAA G Variant 291137 RCV000296346 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 1049997 C T Variant 263189 RCV000254107 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1050027 C A Variant 282708 RCV000405008 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 1050054 T A Variant 263190 RCV000245933 249340 AGRN NM_198576.3:c.4879+17T>A NM_198576.3:c.4879+17T>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1050066 G T Variant 263191 RCV000250684 249341 AGRN NM_198576.3:c.4879+29G>T NM_198576.3:c.4879+29G>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1050069 G A Variant 263192 RCV000242423 249342 AGRN NM_198576.3:c.4879+32G>A NM_198576.3:c.4879+32G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050417 A G Variant 263193 RCV000247197 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050446 G A Variant 128312 RCV000116274 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1050417 A G Variant 263193 RCV000247197 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1050446 G A Variant 128312 RCV000116274 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 1 1050473 G A Variant 243039 RCV000235025 244113 AGRN NM_198576.3:c.5023G>A NP_940978.2:p.Gly1675Ser NM_198576.3:c.5023G>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1050475 C T Variant 263194 RCV000242085 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050520 C T Variant 128313 RCV000116275 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 +1 1050475 C T Variant 263194 RCV000242085 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1050520 C T Variant 128313 RCV000116275 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 1 1050575 G C Variant 18241 RCV000019902 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 19631309 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590 1 1050575 G C Variant 18241 RCV000235029 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided GeneReviews Congenital myasthenic syndrome 19631309,20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 1 1050763 G T Variant 126555 RCV000114427 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 22205389 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590 1 1050763 G T Variant 126555 RCV000235038 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided GeneReviews Congenital myasthenic syndrome 20301347,22205389 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1050785 G A Variant 263195 RCV000251658 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1050785 G A Variant 263195 RCV000251658 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 1 1051336 C T Variant 263196 RCV000246601 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1051351 C T Variant 263197 RCV000252836 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1051352 G A Variant 128314 RCV000116276 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 criteria provided, single submitter criteria provided, single submitter Genetic Services Laboratory, University of Chicago not provided;not provided 18414213 germline MedGen:CN221809 -1 1051352 G A Variant 128314 RCV000244639 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051357 T C Variant 128315 RCV000116277 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051380 G A Variant 263198 RCV000254171 249348 AGRN NM_198576.3:c.5370+11G>A NM_198576.3:c.5370+11G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1051352 G A Variant 128314 RCV000244639 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1051357 T C Variant 128315 RCV000116277 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1051380 G A Variant 263198 RCV000254171 249348 AGRN NM_198576.3:c.5370+11G>A NM_198576.3:c.5370+11G>A:intron variant Likely benign Likely benign;Likely benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1051469 G A Variant 424015 RCV000485746 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1051736 G A Variant 397549 RCV000449559 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 criteria provided, single submitter criteria provided, single submitter Genome Clinic of Geneva,University Hospital of Geneva Myasthenic syndrome, congenital, 8 25741868 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590 1 1051762 C T Variant 128316 RCV000116278 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 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 1051775 G A Variant 243040 RCV000235024 244114 AGRN NM_198576.3:c.5611G>A NP_940978.2:p.Gly1871Arg NM_198576.3:c.5611G>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1051779 G A Variant 388957 RCV000427038 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1051807 G A Variant 390523 RCV000433372 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1051811 G A Variant 263199 RCV000249073 249349 AGRN NM_198576.3:c.5647G>A NP_940978.2:p.Glu1883Lys NM_198576.3:c.5647G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051820 C T Variant 128317 RCV000116279 133766 AGRN NM_198576.3:c.5651+5C>T NM_198576.3:c.5651+5C>T:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 +1 1051820 C T Variant 128317 RCV000116279 133766 AGRN NM_198576.3:c.5651+5C>T NM_198576.3:c.5651+5C>T:intron variant Benign Benign;Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 1 1053827 G C Variant 128318 RCV000116280 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 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1053844 C T Variant 422180 RCV000485272 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1054431 C A Variant 263200 RCV000250424 249351 AGRN NM_198576.3:c.5877-17C>A NM_198576.3:c.5877-17C>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1054862 A G Variant 385926 RCV000425631 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1054897 G A Variant 263201 RCV000253570 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1054900 C T Variant 128319 RCV000116281 133768 AGRN NM_198576.3:c.6057C>T NP_940978.2:p.Asp2019= NM_198576.3:c.6057C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1055000 C T Variant 263157 RCV000252490 249353 AGRN NM_198576.3:c.*19C>T NM_198576.3:c.*19C>T:3 prime UTR variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1054900 C T Variant 128319 RCV000116281 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1055000 C T Variant 263157 RCV000252490 249353 AGRN NM_198576.3:c.*19C>T NM_198576.3:c.*19C>T:3 prime UTR variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1212042 C T Variant 403556 RCV000455786 389315 TNFRSF4 NM_003327.3:c.534G>A NP_003318.1:p.Glu178= NM_003327.3:c.534G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 1 1213738 G A Variant 96692 RCV000082860 102585 TNFRSF4 NM_003327.3:c.193C>T NP_003318.1:p.Arg65Cys NM_003327.3:c.193C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM IMMUNODEFICIENCY 16 (1 patient);IMMUNODEFICIENCY 16 (1 patient) 23897980 germline OMIM:600315.0001 +1 1232256 G A Variant 390144 RCV000433352 364446 B3GALT6 NM_080605.3:c.-23G>A Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1232279 A G Variant 60484 RCV000054390 75079 B3GALT6 NM_080605.3:c.1A>G NP_542172.2:p.Met1Val NM_080605.3:c.1A>G:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 1 1232294 C T Variant 60493 RCV000054399 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 1 1232300 T G Variant 193479 RCV000173551 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1232416 C T Variant 193478 RCV000173550 190642 B3GALT6 NM_080605.3:c.138C>T NP_542172.2:p.Ser46= NM_080605.3:c.138C>T:synonymous variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1232309 C T Variant 386485 RCV000444888 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1232324 C T Variant 391547 RCV000441345 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1232385 C T Variant 392324 RCV000431606 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1232416 C T Variant 193478 RCV000173550 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 1 1232458 A G Variant 288791 RCV000380808 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 1232471 A G Variant 60488 RCV000054394 75083 B3GALT6 NM_080605.3:c.193A>G NP_542172.2:p.Ser65Gly NM_080605.3:c.193A>G:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 1 1232478 C T Variant 60489 RCV000054395 75084 B3GALT6 NM_080605.3:c.200C>T NP_542172.2:p.Pro67Leu NM_080605.3:c.200C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 1 1232630 GA G Variant 60490 RCV000054396 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 +1 1232632 C CCTG Variant 421834 RCV000485868 404899 B3GALT6 NM_080605.3:c.365_367dupTGC NP_542172.2:p.Leu122_Pro123insLeu Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1232645 C T Variant 387709 RCV000432423 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1232684 GTGCTGGCCA G Variant 60494 RCV000054400 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 +1 1232735 C A Variant 390636 RCV000431776 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1232744 G A Variant 60486 RCV000054392 75081 B3GALT6 NM_080605.3:c.466G>A NP_542172.2:p.Asp156Asn NM_080605.3:c.466G>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 1 1232793 C T Variant 373234 RCV000413594 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 -1 1232800 G C Variant 281204 RCV000287240 265441 B3GALT6 NM_080605.3:c.522G>C NP_542172.2:p.Glu174Asp NM_080605.3:c.522G>C:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1232800 G C Variant 281204 RCV000287240 265441 B3GALT6 NM_080605.3:c.522G>C NP_542172.2:p.Glu174Asp NM_080605.3:c.522G>C:missense variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 1 1232859 CG C Variant 60492 RCV000054398 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 -1 1232865 G T Variant 281706 RCV000408441 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1232861 G C Variant 390607 RCV000425752 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1232865 G T Variant 281706 RCV000408441 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 +1 1232882 G A Variant 423210 RCV000478140 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1232897 G C Variant 60495 RCV000054401 75090 B3GALT6 NM_080605.3:c.619G>C NP_542172.2:p.Asp207His NM_080605.3:c.619G>C:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 1 1232927 G A Variant 60496 RCV000054402 75091 B3GALT6 NM_080605.3:c.649G>A NP_542172.2:p.Gly217Ser NM_080605.3:c.649G>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 1 1232972 C T Variant 60485 RCV000054391 75080 B3GALT6 NM_080605.3:c.694C>T NP_542172.2:p.Arg232Cys NM_080605.3:c.694C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 @@ -129,6 +163,7 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 1233177 G C Variant 60487 RCV000054393 75082 B3GALT6 NM_080605.3:c.899G>C NP_542172.2:p.Cys300Ser NM_080605.3:c.899G>C:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 1 1233187 G A Variant 193477 RCV000173549 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 1233203 T A Variant 60491 RCV000054397 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 +1 1336392 C T Variant 391198 RCV000437568 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1338000 CT C Variant 208047 RCV000193819 204306 DVL1 NM_004421.2:c.1615delA NP_004412.2:p.Ser539Alafs NM_004421.2:c.1615delA:frameshift variant Pathogenic Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 1 1338033 TAGGCAGG C Variant 208050 RCV000194315 204307 DVL1 NM_004421.2:c.1576_1583delCCTGCCTAinsG NP_004412.2:p.Pro526Alafs NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift variant Pathogenic Pathogenic;Pathogenic no assertion criteria provided no assertion criteria provided;no assertion criteria provided OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 22431878,25817014 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 1 1338045 AA G Variant 208043 RCV000192810 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 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 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 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 @@ -139,34 +174,44 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 1338098 GGGGGCAGCCGGGT G Variant 208044 RCV000193850 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 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 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 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 1 1338107 CG C Variant 208046 RCV000192930 204313 DVL1 NM_004421.2:c.1508delC NP_004412.2:p.Pro503Argfs NM_004421.2:c.1508delC:frameshift variant Pathogenic Pathogenic;Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 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 10319206,23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 1 1338529 G GGCATTGGC Variant 373812 RCV000413003 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 criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 -1 1512426 C T Variant 225697 RCV000412620 227512 ATAD3A NM_001170535.1:c.158C>T NP_001164006.1:p.Thr53Ile NM_001170535.1:c.158C>T:missense variant;NM_001170536.1:c.-297C>T:2KB upstream variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM HAREL-YOON SYNDROME;HAREL-YOON SYNDROME, AUTOSOMAL RECESSIVE 27640307 germline MedGen:CN239114;OMIM:612316.0001;OMIM:617183 -1 1529299 C T Variant 225696 RCV000412539 227511 ATAD3A NM_001170535.1:c.1582C>T NP_001164006.1:p.Arg528Trp NM_001170535.1:c.1582C>T:missense variant Pathogenic Pathogenic;Pathogenic no assertion criteria provided no assertion criteria provided;no assertion criteria provided OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine HAREL-YOON SYNDROME;HAREL-YOON SYNDROME 27640307 de novo;unknown MedGen:CN239114;OMIM:612316.0001;OMIM:617183 +1 1339388 G A Variant 391268 RCV000429612 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1341659 CCA C Variant 376849 RCV000429733 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign Likely Benign criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 +1 1353913 A T Variant 402162 RCV000454237 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 criteria provided, single submitter criteria provided, single submitter 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 +1 1455821 G A Variant 423820 RCV000479669 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1512426 C T Variant 225697 RCV000412620 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 no assertion criteria provided no assertion criteria provided OMIM HAREL-YOON SYNDROME;HAREL-YOON SYNDROME, AUTOSOMAL RECESSIVE 27640307 germline MedGen:CN239114;OMIM:612316.0001;OMIM:617183 +1 1529299 C T Variant 225696 RCV000412539 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Pathogenic Pathogenic;Pathogenic no assertion criteria provided no assertion criteria provided;no assertion criteria provided OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine HAREL-YOON SYNDROME;HAREL-YOON SYNDROME 27640307 de novo;unknown MedGen:CN239114;OMIM:612316.0001;OMIM:617183 1 1535370 G A Variant 161196 RCV000148348 171043 TMEM240 NM_001114748.1:c.511C>T NP_001108220.1:p.Arg171Trp NM_001114748.1:c.511C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 1 1535372 G A Variant 161192 RCV000148344 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 11160961,20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 1 1535372 G A Variant 161192 RCV000322616 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 1 1535392 G C Variant 161193 RCV000148345 171040 TMEM240 NM_001114748.1:c.489C>G NP_001108220.1:p.Tyr163Ter NM_001114748.1:c.489C>G:nonsense Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 +1 1535457 G A Variant 393221 RCV000424137 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1535589 C T Variant 373233 RCV000413204 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 1535616 G A Variant 161194 RCV000148346 171041 TMEM240 NM_001114748.1:c.346C>T NP_001108220.1:p.Arg116Cys NM_001114748.1:c.346C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 1 1535723 G A Variant 161195 RCV000148347 171042 TMEM240 NM_001114748.1:c.239C>T NP_001108220.1:p.Thr80Met NM_001114748.1:c.239C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 1 1535766 C T Variant 372833 RCV000413958 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 criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 1 1615612 C A Variant 218832 RCV000202894 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 criteria provided, single submitter criteria provided, single submitter Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 -1 1787378 C T Variant 224718 RCV000210260 226495 GNB1 NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr NM_002074.4:c.976G>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Muscular hypotonia 21956720 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:C1843367;MedGen:C1959629;MedGen:CN001147;MedGen:CN001157;MedGen:CN001871 -1 1804548 T C Variant 224717 RCV000210283 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided 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 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:C1836830;MedGen:C1843367;MedGen:C1847610;MedGen:C1959629;MedGen:CN001147;MedGen:CN001157;MedGen:CN001871;MedGen:CN002165;MedGen:CN116575;MedGen:CN166927 +1 1705645 TTTTC T Variant 421783 RCV000480151 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 1787378 C T Variant 224718 RCV000210260 226495 GNB1 NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr NM_002074.4:c.976G>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Muscular hypotonia 21956720 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 +1 1804548 T C Variant 224717 RCV000210283 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided 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 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 1 1804548 T C Variant 224717 RCV000225171 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 27108799 germline MedGen:CN236792;OMIM:616973 -1 1804565 A G Variant 224716 RCV000210270 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 no assertion criteria provided no assertion criteria provided 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 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:C0038379;MedGen:C0231246;MedGen:C0232466;MedGen:C0560046;MedGen:C1838391;MedGen:C1843367;MedGen:C1847610;MedGen:C1959629;MedGen:C1963184;MedGen:CN001147;MedGen:CN001157;MedGen:CN001379;MedGen:CN116575;MedGen:CN117595 -1 1806503 A G Variant 208722 RCV000190738 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 criteria provided, single submitter criteria provided, single submitter 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 germline MeSH:D030342;MedGen:C0950123 -1 1806503 A G Variant 208722 RCV000208571 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 no assertion criteria provided no assertion criteria provided 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 de novo GeneReviews:NBK1155;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:C0393593;MedGen:C1843367;MedGen:C1970931;MedGen:C2750951;MedGen:CN001379;MedGen:CN117790;MedGen:CN200780;OMIM:PS128100 -1 1806503 A G Variant 208722 RCV000210259 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 no assertion criteria provided no assertion criteria provided 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 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:C0038379;MedGen:C0231246;MedGen:C0560046;MedGen:C1836830;MedGen:C1838391;MedGen:C1847610;MedGen:C1959629;MedGen:C1963184;MedGen:CN001147;MedGen:CN001157;MedGen:CN001379;MedGen:CN116575;MedGen:CN166927 +1 1804548 T C Variant 224717 RCV000480671 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 criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 +1 1804565 A G Variant 224716 RCV000210270 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 no assertion criteria provided no assertion criteria provided 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 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 +1 1806476 T C Variant 422536 RCV000486531 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 criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 +1 1806503 A C Variant 391609 RCV000439050 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 +1 1806503 A G Variant 208722 RCV000190738 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 criteria provided, single submitter criteria provided, single submitter 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 germline MeSH:D030342;MedGen:C0950123 +1 1806503 A G Variant 208722 RCV000208571 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 no assertion criteria provided no assertion criteria provided 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 de novo GeneReviews:NBK1155;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 +1 1806503 A G Variant 208722 RCV000210259 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 no assertion criteria provided no assertion criteria provided 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 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 1 1806503 A G Variant 208722 RCV000225179 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 no assertion criteria provided no assertion criteria provided OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910,27108799 unknown MedGen:CN236792;OMIM:616973 -1 1806503 A G Variant 208722 RCV000225295 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 no assertion criteria provided no assertion criteria provided OMIM Myelodysplastic syndrome 25485910,27108799 Autosomal dominant inheritance;Somatic mutation All ages 1-9 / 100 000 somatic Genetic Alliance:Myelodysplastic+syndromes/5021;Genetic Testing Registry (GTR):GTR000501848;Genetic Testing Registry (GTR):GTR000508338;Genetic Testing Registry (GTR):GTR000518980;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520187;Genetic Testing Registry (GTR):GTR000520395;Genetic Testing Registry (GTR):GTR000521830;Genetic Testing Registry (GTR):GTR000525847;Genetic Testing Registry (GTR):GTR000525900;Genetic Testing Registry (GTR):GTR000525905;Genetic Testing Registry (GTR):GTR000527980;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000529055;Genetic Testing Registry (GTR):GTR000529137;Genetic Testing Registry (GTR):GTR000530327;Genetic Testing Registry (GTR):GTR000530631;Genetic Testing Registry (GTR):GTR000531723;Genetic Testing Registry (GTR):GTR000531726;Genetic Testing Registry (GTR):GTR000552115;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688 -1 1806503 A T Variant 224715 RCV000210280 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 no assertion criteria provided no assertion criteria provided 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 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:C0231246;MedGen:C0232466;MedGen:C1838391;MedGen:C1959629;MedGen:CN001147;MedGen:CN001157;MedGen:CN001379;MedGen:CN002165;MedGen:CN007871;MedGen:CN116575;MedGen:CN117595 +1 1806503 A G Variant 208722 RCV000225295 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 no assertion criteria provided no assertion criteria provided OMIM Myelodysplastic syndrome 25485910,27108799 Autosomal dominant inheritance;Somatic mutation All ages 1-9 / 100 000 somatic Genetic Alliance:Myelodysplastic+syndromes/5021;Genetic Testing Registry (GTR):GTR000501848;Genetic Testing Registry (GTR):GTR000508338;Genetic Testing Registry (GTR):GTR000518980;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520187;Genetic Testing Registry (GTR):GTR000520395;Genetic Testing Registry (GTR):GTR000521830;Genetic Testing Registry (GTR):GTR000525847;Genetic Testing Registry (GTR):GTR000525900;Genetic Testing Registry (GTR):GTR000525905;Genetic Testing Registry (GTR):GTR000527980;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000529055;Genetic Testing Registry (GTR):GTR000529137;Genetic Testing Registry (GTR):GTR000530327;Genetic Testing Registry (GTR):GTR000530631;Genetic Testing Registry (GTR):GTR000531723;Genetic Testing Registry (GTR):GTR000531726;Genetic Testing Registry (GTR):GTR000552115;MeSH:D009190;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688 +1 1806503 A G Variant 208722 RCV000418135 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 criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 +1 1806503 A T Variant 224715 RCV000210280 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 no assertion criteria provided no assertion criteria provided 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 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 1 1806503 A T Variant 224715 RCV000225195 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 no assertion criteria provided no assertion criteria provided OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910,27108799 unknown MedGen:CN236792;OMIM:616973 1 1806503 A T Variant 224715 RCV000225283 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 no assertion criteria provided no assertion criteria provided OMIM Acute lymphoid leukemia 25485910,27108799 All ages 1-9 / 100 000 somatic Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 -1 1806509 T C Variant 224714 RCV000210269 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 no assertion criteria provided no assertion criteria provided 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 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:C0038379;MedGen:C0232466;MedGen:C1959629;MedGen:CN001147;MedGen:CN001157;MedGen:CN001379;MedGen:CN007871;MedGen:CN166927 +1 1806509 T C Variant 224714 RCV000210269 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 no assertion criteria provided no assertion criteria provided 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 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 1 1806509 T C Variant 224714 RCV000225134 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 no assertion criteria provided no assertion criteria provided OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 27108799 germline MedGen:CN236792;OMIM:616973 -1 1806513 C T Variant 224713 RCV000210256 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 no assertion criteria provided no assertion criteria provided Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Global developmental delay;Muscular hypotonia 21956720 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:CN001147;MedGen:CN001157 -1 1806514 A C Variant 224712 RCV000210277 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 no assertion criteria provided no assertion criteria provided 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 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:C0038379;MedGen:C0231246;MedGen:C1838391;MedGen:C1959629;MedGen:CN001157;MedGen:CN002165 -1 1806515 T C Variant 224711 RCV000210265 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 no assertion criteria provided no assertion criteria provided Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Intellectual disability;Global developmental delay;Infantile muscular hypotonia;Muscular hypotonia 21956720 de novo 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:CN001147;MedGen:CN001157;MedGen:CN007871 +1 1806513 C T Variant 224713 RCV000210256 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 no assertion criteria provided no assertion criteria provided Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Global developmental delay;Muscular hypotonia 21956720 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 +1 1806514 A C Variant 224712 RCV000210277 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 no assertion criteria provided no assertion criteria provided 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 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 +1 1806515 T C Variant 224711 RCV000210265 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 no assertion criteria provided no assertion criteria provided Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Intellectual disability;Global developmental delay;Infantile muscular hypotonia;Muscular hypotonia 21956720 de novo 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 1 1806515 T C Variant 224711 RCV000225254 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 no assertion criteria provided no assertion criteria provided OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910,27108799 unknown MedGen:CN236792;OMIM:616973 1 1806515 T C Variant 224711 RCV000225357 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 no assertion criteria provided no assertion criteria provided OMIM Acute lymphoid leukemia 25485910,27108799 All ages 1-9 / 100 000 somatic Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 1 2024923 G A Variant 256824 RCV000245842 249668 GABRD NM_000815.4:c.69-19G>A NM_000815.4:c.69-19G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 @@ -180,7 +225,11 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 2029194 G A Variant 235308 RCV000224860 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 1 2029235 C T Variant 256825 RCV000248963 249670 GABRD NM_000815.4:c.816C>T NP_000806.2:p.Ser272= NM_000815.4:c.816C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2029969 C T Variant 256822 RCV000249647 249671 GABRD NM_000815.4:c.1060-14C>T NM_000815.4:c.1060-14C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2030031 G A Variant 375540 RCV000417018 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 criteria provided, single submitter criteria provided, single submitter Neurogenetics Laboratory - MEYER,AOU Meyer Epileptic encephalopathy 25741868 unknown Human Phenotype Ontology:HP:0200134;MedGen:C0543888;MedGen:CN176791 +1 2030031 G A Variant 375540 RCV000417018 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 criteria provided, single submitter criteria provided, single submitter Neurogenetics Laboratory - MEYER,AOU Meyer Epileptic encephalopathy 25741868 unknown Human Phenotype Ontology:HP:0200134;MedGen:C0543888 +1 2228725 G A Variant 392772 RCV000441067 364806 SKI NM_003036.3:c.-42G>A Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2228739 G T Variant 393061 RCV000425453 364809 SKI NM_003036.3:c.-28G>T Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2228748 G A Variant 386778 RCV000444804 364818 SKI NM_003036.3:c.-19G>A Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2228825 C T Variant 409969 RCV000457554 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2228828 T G Variant 224869 RCV000210450 226716 SKI NM_003036.3:c.62T>G NP_003027.1:p.Leu21Arg NM_003036.3:c.62T>G:missense variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454,23023332 Infancy <1 / 1 000 000 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 1 2228860 C G Variant 37259 RCV000030817 45849 SKI NM_003036.3:c.94C>G NP_003027.1:p.Leu32Val NM_003036.3:c.94C>G:missense variant Pathogenic Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230,24736733 Infancy <1 / 1 000 000 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 1 2228865 C G Variant 139112 RCV000173298 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter GeneDx;Emory Genetics Laboratory,Emory University;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,PreventionGenetics not specified;not specified;not specified;Not specified;NOT SPECIFIED 24033266,25741868 germline MedGen:CN169374 @@ -188,123 +237,178 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 2228866 G A Variant 37261 RCV000030819 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230,24736733 Infancy <1 / 1 000 000 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 1 2228866 G A Variant 37261 RCV000200686 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 1 2228866 G T Variant 37262 RCV000030820 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230 Infancy <1 / 1 000 000 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 -1 2228866 G T Variant 37262 RCV000197434 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter GeneDx not provided;not provided germline MedGen:CN221809 1 2228867 G A Variant 37260 RCV000030818 45850 SKI NM_003036.3:c.101G>A NP_003027.1:p.Gly34Asp NM_003036.3:c.101G>A:missense variant Pathogenic Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,24736733 Infancy <1 / 1 000 000 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 1 2228867 G T Variant 39783 RCV000033005 48382 SKI NM_003036.3:c.101G>T NP_003027.1:p.Gly34Val NM_003036.3:c.101G>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230,24736733 Infancy <1 / 1 000 000 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 1 2228869 C T Variant 39786 RCV000033008 48385 SKI NM_003036.3:c.103C>T NP_003027.1:p.Pro35Ser NM_003036.3:c.103C>T:missense variant Pathogenic Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230,24736733 Infancy <1 / 1 000 000 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 1 2228870 C A Variant 39785 RCV000033007 48384 SKI NM_003036.3:c.104C>A NP_003027.1:p.Pro35Gln NM_003036.3:c.104C>A:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2228870 C G Variant 409977 RCV000475694 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454,23023332,23103230 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2228871 G A Variant 386838 RCV000437914 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2228904 C T Variant 213665 RCV000198300 209445 SKI NM_003036.3:c.138C>T NP_003027.1:p.Ala46= NM_003036.3:c.138C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2228913 G A Variant 385331 RCV000445172 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2228951 C G Variant 139113 RCV000128047 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,PreventionGenetics not specified;not specified;Not specified;NOT SPECIFIED 24033266,25741868 germline MedGen:CN169374 +1 2228955 G GGTGCCC Variant 409976 RCV000467436 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2228982 C T Variant 193249 RCV000204079 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2228982 C T Variant 193249 RCV000225703 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2228982 C T Variant 193249 RCV000242995 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2229005 A AGCC Variant 264471 RCV000250462 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2228982 C T Variant 193249 RCV000242995 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2229005 A AGCC Variant 264471 RCV000250462 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2229014 C T Variant 409973 RCV000461038 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2229045 GTCCGACCGC G Variant 37263 RCV000030821 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 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332 Infancy <1 / 1 000 000 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 1 2229045 GTCCGACCGCTCC G Variant 39784 RCV000033006 48383 SKI NM_003036.3:c.280_291delTCCGACCGCTCC NP_003027.1:p.Ser94_Ser97del NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2229060 C T Variant 213681 RCV000198732 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2229060 C T Variant 213681 RCV000254475 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter 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 -1 2229077 T C Variant 264417 RCV000246817 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2229078 A T Variant 227947 RCV000215560 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 2229060 C T Variant 213681 RCV000198732 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2229060 C T Variant 213681 RCV000254475 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter 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 +1 2229060 C T Variant 213681 RCV000467477 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2229077 T C Variant 264417 RCV000246817 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2229078 A T Variant 227947 RCV000215560 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 2229108 G T Variant 390742 RCV000418308 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2229113 G A Variant 37258 RCV000030816 45848 SKI NM_003036.3:c.347G>A NP_003027.1:p.Gly116Glu NM_003036.3:c.347G>A:missense variant Pathogenic Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332 Infancy <1 / 1 000 000 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 1 2229115 G C Variant 224868 RCV000210472 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454,23023332 Infancy <1 / 1 000 000 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 1 2229118 G A Variant 222819 RCV000208203 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 criteria provided, single submitter criteria provided, single submitter Blueprint Genetics Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2229126 C T Variant 213682 RCV000200253 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 -1 2229159 G A Variant 264423 RCV000254423 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 +1 2229126 C T Variant 213682 RCV000461600 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2229159 G A Variant 264423 RCV000254423 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 criteria provided, single submitter criteria provided, single submitter 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 1 2229183 C T Variant 213683 RCV000196335 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2229183 C T Variant 213683 RCV000234780 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2229222 C T Variant 139111 RCV000128045 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2229222 C T Variant 139111 RCV000228536 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2229222 C T Variant 139111 RCV000245385 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter 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 +1 2229222 C T Variant 139111 RCV000245385 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter 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 1 2229230 C G Variant 373594 RCV000413541 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2229230 C G Variant 373594 RCV000461900 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2229237 G A Variant 239478 RCV000232451 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2229237 G A Variant 239478 RCV000247169 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2229253 G A Variant 239479 RCV000234052 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2229261 C T Variant 258901 RCV000250311 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2229265 CT GG Variant 213703 RCV000200337 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 criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 1 2229305 C T Variant 213684 RCV000198523 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 -1 2229391 C A Variant 264172 RCV000242214 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 +1 2229391 C A Variant 264172 RCV000242214 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 criteria provided, single submitter criteria provided, single submitter 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 1 2229406 A G Variant 213685 RCV000200824 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2229468 C G Variant 388701 RCV000441081 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2229492 C T Variant 381375 RCV000438601 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2229502 C T Variant 424243 RCV000484316 405059 SKI NM_003036.3:c.736C>T NP_003027.1:p.Gln246Ter NM_003036.3:c.736C>T:nonsense Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2229534 G A Variant 381998 RCV000435128 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2229564 C T Variant 193248 RCV000225717 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2229564 C T Variant 193248 RCV000243648 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 +1 2229564 C T Variant 193248 RCV000243648 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2229564 C T Variant 193248 RCV000465929 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2229565 C T Variant 213663 RCV000200723 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2229565 C T Variant 213663 RCV000228953 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2229610 C A Variant 264492 RCV000251439 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 +1 2229610 C A Variant 264492 RCV000251439 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2229611 G A Variant 393089 RCV000421845 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2229663 C T Variant 380753 RCV000417582 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2229663 C T Variant 380753 RCV000458602 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2229672 C T Variant 389154 RCV000442843 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2229685 G A Variant 213686 RCV000196881 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2229704 A G Variant 213687 RCV000199076 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2229714 G A Variant 213664 RCV000196098 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2229714 G A Variant 213664 RCV000231718 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2229730 C T Variant 264199 RCV000252076 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2302971 A G Variant 289941 RCV000284270 274178 SKI NM_003036.3:c.970-7A>G NM_003036.3:c.970-7A>G:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2229730 C T Variant 264199 RCV000252076 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2302971 A G Variant 289941 RCV000284270 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 1 2303008 C T Variant 213688 RCV000198950 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303013 A G Variant 392801 RCV000420643 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303041 G A Variant 213666 RCV000200606 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303041 G A Variant 213666 RCV000474882 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2303049 C T Variant 384269 RCV000417667 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303076 G A Variant 389348 RCV000436780 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303078 G A Variant 213689 RCV000195711 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303089 G A Variant 222820 RCV000208423 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 criteria provided, single submitter criteria provided, single submitter Blueprint Genetics not specified;not specified germline MedGen:CN169374 -1 2303101 A G Variant 213706 RCV000200205 209460 SKI NM_003036.3:c.1093A>G NP_003027.1:p.Lys365Glu NM_003036.3:c.1093A>G:missense variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303279 C T Variant 390923 RCV000443858 364886 SKI NM_003036.3:c.1096-6C>T NM_003036.3:c.1096-6C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303306 C T Variant 409970 RCV000465525 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2303328 G A Variant 213690 RCV000197996 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303351 G A Variant 213667 RCV000197343 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 -1 2303352 C T Variant 213668 RCV000198871 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Conflicting interpretations of pathogenicity Likely benign;Benign criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2303352 C T Variant 213668 RCV000198871 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2303352 C T Variant 213668 RCV000204037 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2303352 C T Variant 213668 RCV000436746 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 +1 2303353 G A Variant 415896 RCV000463122 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2303372 C T Variant 213691 RCV000198841 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303377 C T Variant 392508 RCV000422024 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303385 C T Variant 213692 RCV000195594 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2303385 C T Variant 213692 RCV000227742 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2303386 C A Variant 386213 RCV000438909 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303394 G A Variant 409972 RCV000466620 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2303410 C T Variant 213669 RCV000200400 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303410 C T Variant 213669 RCV000470601 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2303411 G A Variant 213670 RCV000197227 209467 SKI NM_003036.3:c.1211+11G>A NM_003036.3:c.1211+11G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303417 C T Variant 258899 RCV000248676 249763 SKI NM_003036.3:c.1211+17C>T NM_003036.3:c.1211+17C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2303419 C T Variant 258900 RCV000251824 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2303419 C T Variant 258900 RCV000251824 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 1 2303832 C T Variant 213671 RCV000199440 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2303832 C T Variant 213671 RCV000415889 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809 1 2303871 G A Variant 222821 RCV000208100 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 criteria provided, single submitter criteria provided, single submitter Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 1 2303875 C T Variant 213693 RCV000197794 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303882 C T Variant 392009 RCV000441456 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303886 G A Variant 220793 RCV000205977 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2303891 C T Variant 263904 RCV000252813 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 +1 2303891 C T Variant 263904 RCV000252813 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 criteria provided, single submitter criteria provided, single submitter 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 1 2303892 G A Variant 213707 RCV000196970 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303897 G A Variant 387432 RCV000431107 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2303899 C T Variant 423663 RCV000486959 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303929 C T Variant 213694 RCV000200090 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 -1 2303937 G A Variant 263895 RCV000251995 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 criteria provided, single submitter criteria provided, single submitter 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2303939 C G Variant 227946 RCV000221218 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 2303937 G A Variant 263895 RCV000251995 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2303937 G A Variant 263895 RCV000474123 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2303939 C G Variant 227946 RCV000221218 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 2303939 C G Variant 227946 RCV000462719 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2303939 C T Variant 139114 RCV000128048 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 1 2303939 C T Variant 139114 RCV000229389 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2303939 C T Variant 139114 RCV000249261 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter 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 +1 2303939 C T Variant 139114 RCV000249261 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter 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 +1 2303943 G A Variant 409971 RCV000457275 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2303957 C T Variant 385791 RCV000429448 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2303966 C T Variant 213672 RCV000195511 209472 SKI NM_003036.3:c.1338C>T NP_003027.1:p.Leu446= NM_003036.3:c.1338C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2304012 C G Variant 409974 RCV000467693 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2304038 C T Variant 213673 RCV000197717 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2304038 C T Variant 213673 RCV000458443 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2304048 C G Variant 373583 RCV000413715 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2304074 G A Variant 139115 RCV000178187 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter GeneDx;Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2304074 G A Variant 139115 RCV000233299 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2304074 G A Variant 139115 RCV000249175 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2304074 G A Variant 139115 RCV000249175 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 criteria provided, single submitter criteria provided, single submitter 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 1 2304084 G A Variant 229252 RCV000218491 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 1 2304298 T A Variant 373745 RCV000414146 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2304298 T A Variant 373745 RCV000460773 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2304323 C T Variant 377202 RCV000442707 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 1 2304345 C T Variant 213674 RCV000199331 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified;Not specified 24033266 germline MedGen:CN169374 -1 2304345 C T Variant 213674 RCV000245139 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2304345 C T Variant 213674 RCV000245139 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 criteria provided, single submitter criteria provided, single submitter 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 1 2304346 G A Variant 213695 RCV000195482 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2304373 C T Variant 213696 RCV000197672 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2304374 G A Variant 213675 RCV000196080 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 -1 2304386 C T Variant 180522 RCV000157499 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 no assertion criteria provided no assertion criteria provided Blueprint Genetics Arterial dissection;Arterial dissection germline Human Phenotype Ontology:HP:0005294;MedGen:CN004695 +1 2304386 C T Variant 180522 RCV000157499 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 no assertion criteria provided no assertion criteria provided Blueprint Genetics Arterial dissection;Arterial dissection germline Human Phenotype Ontology:HP:0005294;MedGen:C0002949;MedGen:CN004695 1 2304391 G A Variant 213676 RCV000197599 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2304398 ATGC A Variant 213704 RCV000197075 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2304411 T C Variant 213677 RCV000199803 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2304411 T C Variant 213677 RCV000466338 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2304437 C T Variant 213697 RCV000199881 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2304438 G A Variant 415898 RCV000456827 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2304450 C T Variant 213678 RCV000196639 209482 SKI NM_003036.3:c.1632C>T NP_003027.1:p.His544= NM_003036.3:c.1632C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2304552 C T Variant 415897 RCV000472195 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2304591 C T Variant 239476 RCV000227068 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2306080 C A Variant 213708 RCV000199152 209483 SKI NM_003036.3:c.1828C>A NP_003027.1:p.Arg610Ser NM_003036.3:c.1828C>A:missense variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2306038 G T Variant 393207 RCV000442849 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306086 C T Variant 139116 RCV000179418 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter GeneDx;Emory Genetics Laboratory,Emory University;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,PreventionGenetics not specified;not specified;not specified;Not specified;NOT SPECIFIED 24033266,25741868 germline MedGen:CN169374 1 2306086 C T Variant 139116 RCV000230962 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2306086 C T Variant 139116 RCV000243796 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 criteria provided, single submitter criteria provided, single submitter 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 +1 2306086 C T Variant 139116 RCV000243796 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 criteria provided, single submitter criteria provided, single submitter 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 1 2306103 G A Variant 198156 RCV000179419 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2306103 G A Variant 198156 RCV000473994 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2306112 C T Variant 415894 RCV000468377 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2306115 C T Variant 384451 RCV000430401 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306122 GAGA G Variant 213705 RCV000198612 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306129 A T Variant 213698 RCV000196715 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2306139 G A Variant 415893 RCV000476076 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2306142 C T Variant 198155 RCV000246302 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2306184 G A Variant 383505 RCV000419527 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306223 C T Variant 239477 RCV000233767 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2306226 C T Variant 139117 RCV000179417 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter GeneDx;Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 1 2306226 C T Variant 139117 RCV000227524 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2306585 C G Variant 213699 RCV000198240 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2306235 C T Variant 415895 RCV000475416 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2306561 C T Variant 388616 RCV000444316 364745 SKI NM_003036.3:c.1999-16C>T NM_003036.3:c.1999-16C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2306585 C G Variant 213699 RCV000198240 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306585 C G Variant 213699 RCV000230294 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2306585 C G Variant 213699 RCV000243311 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter 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 +1 2306585 C G Variant 213699 RCV000243311 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter 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 +1 2306587 T G Variant 409975 RCV000473086 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2306591 G A Variant 415892 RCV000460660 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2306634 G A Variant 213709 RCV000195941 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2306642 G C Variant 386021 RCV000425793 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306706 T C Variant 213710 RCV000196830 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306719 G A Variant 213679 RCV000197481 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306731 C G Variant 213680 RCV000199684 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306752 A C Variant 213700 RCV000199766 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2306761 C T Variant 213701 RCV000196525 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2306762 G C Variant 386048 RCV000429161 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 2306762 G C Variant 386048 RCV000474716 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 criteria provided, single submitter criteria provided, single submitter Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 1 2306765 GATT G Variant 222822 RCV000208246 224193 SKI NM_003036.3:c.*1_*3delATT NM_003036.3:c.*1_*3delATT:3 prime UTR variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 +1 2306782 C T Variant 383970 RCV000425474 364926 SKI NM_003036.3:c.*17C>T Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 2404912 C T Variant 296252 RCV000386642 281775 PEX10 NM_153818.1:c.*854G>A NM_153818.1:c.*854G>A:3 prime UTR variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 1 2404928 G A Variant 296253 RCV000292328 280463 PEX10 NM_153818.1:c.*838C>T NM_153818.1:c.*838C>T:3 prime UTR variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 1 2404931 G A Variant 296254 RCV000347311 280132 PEX10 NM_153818.1:c.*835C>T NM_153818.1:c.*835C>T:3 prime UTR variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 @@ -342,7 +446,7 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 2406558 G A Variant 286808 RCV000407787 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 2406561 C A Variant 282334 RCV000289565 266571 PEX10 NM_153818.1:c.895G>T NP_722540.1:p.Glu299Ter NM_153818.1:c.895G>T:nonsense Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University Peroxisome biogenesis disorder 6A Neonatal germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 1 2406566 A G Variant 162432 RCV000149810 172123 PEX10 NM_153818.1:c.890T>C NP_722540.1:p.Leu297Pro NM_153818.1:c.890T>C:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411,6 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 -1 2406576 T C Variant 197887 RCV000179027 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2406576 T C Variant 197887 RCV000179027 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified;NOT SPECIFIED;not specified 24033266,25741868 germline MedGen:CN169374 1 2406580 C A Variant 289743 RCV000264178 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 2406580 CAG C Variant 296273 RCV000337969 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 10862081,12794690,19142205,20301621,21031596,22871920,27230853,9700193 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 1 2406580 CAG C Variant 296273 RCV000409050 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter Counsyl Peroxisome biogenesis disorder 6B 12794690 1-9 / 100 000 unknown MedGen:C3553948;OMIM:614871;Orphanet:44 @@ -350,7 +454,7 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 2406584 G A Variant 289191 RCV000281616 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 2406585 G T Variant 286993 RCV000388149 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 2406712 G A Variant 296274 RCV000400274 280483 PEX10 NM_153818.1:c.836+8C>T NM_153818.1:c.836+8C>T:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2406719 C G Variant 225040 RCV000210672 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter 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 +1 2406719 C G Variant 225040 RCV000210672 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter 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 1 2406723 C T Variant 290110 RCV000268088 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 2406736 C T Variant 296275 RCV000297739 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 1 2406766 G A Variant 162435 RCV000149813 172126 PEX10 NM_153818.1:c.790C>T NP_722540.1:p.Arg264Ter NM_153818.1:c.790C>T:nonsense Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 @@ -360,6 +464,7 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 2406791 C CT Variant 6774 RCV000149808 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic Pathogenic;Pathogenic criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter OMIM;Counsyl Peroxisome biogenesis disorder 6B 10862081,15542397,17702006,20695019,9683594 1-9 / 100 000 germline;unknown MedGen:C3553948;OMIM:614871;Orphanet:44 1 2406791 C CT Variant 6774 RCV000324305 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 1 2406811 C G Variant 296277 RCV000408360 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2406811 C G Variant 296277 RCV000425126 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 1 2406855 C T Variant 291156 RCV000343088 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 2406885 C T Variant 197386 RCV000178399 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 2406885 C T Variant 197386 RCV000315166 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 @@ -427,99 +532,174 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 2563206 C T Variant 135356 RCV000122171 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 no assertion provided no assertion provided ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 1 2563218 C T Variant 135357 RCV000122172 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 no assertion provided no assertion provided ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 1 3069246 C A Variant 228319 RCV000214266 228411 PRDM16 NM_022114.3:c.-14C>A NM_022114.3:c.-14C>A:5 prime UTR variant not provided not provided no assertion provided no assertion provided Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified germline MedGen:CN169374 -1 3186110 C T Variant 227038 RCV000222776 228410 PRDM16 NM_022114.3:c.38-15C>T NM_022114.3:c.38-15C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3186111 G A Variant 229168 RCV000219133 228412 PRDM16 NM_022114.3:c.38-14G>A NM_022114.3:c.38-14G>A:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3186187 G A Variant 227857 RCV000215109 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3069280 G A Variant 390136 RCV000439530 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3186110 C T Variant 227038 RCV000222776 228410 PRDM16 NM_022114.3:c.38-15C>T NM_022114.3:c.38-15C>T:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3186111 G A Variant 229168 RCV000219133 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3186187 G A Variant 227857 RCV000215109 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3186187 G A Variant 227857 RCV000228623 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3186188 C T Variant 406246 RCV000456657 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3186229 G A Variant 241420 RCV000234327 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3186229 G A Variant 241420 RCV000430883 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3186233 G A Variant 423614 RCV000486085 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3186287 C T Variant 406237 RCV000469281 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3186288 G A Variant 227864 RCV000220218 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 1 3186288 G A Variant 227864 RCV000228859 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3186434 T C Variant 391742 RCV000426483 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3186480 C T Variant 227039 RCV000216479 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3186480 C T Variant 227039 RCV000464355 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3244128 C T Variant 227040 RCV000219941 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3385157 C T Variant 227041 RCV000213616 228417 PRDM16 NM_022114.3:c.444C>T NP_071397.3:p.Ser148= NM_022114.3:c.444C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3385148 G T Variant 413869 RCV000463252 391188 PRDM16 NM_022114.3:c.439-4G>T NM_022114.3:c.439-4G>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3385157 C T Variant 227041 RCV000213616 228417 PRDM16 NM_022114.3:c.444C>T NP_071397.3:p.Ser148= NM_022114.3:c.444C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3385194 A G Variant 406240 RCV000475755 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3385201 C T Variant 391177 RCV000444937 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3385266 A G Variant 235271 RCV000224254 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 criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 -1 3396544 C T Variant 227042 RCV000217911 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3385295 G A Variant 413864 RCV000473521 391176 PRDM16 NM_022114.3:c.573+9G>A NM_022114.3:c.573+9G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3396467 TTCTC T Variant 422807 RCV000482222 405161 PRDM16 NM_022114.3:c.574-20_574-17delCTCT NM_022114.3:c.574-20_574-17delCTCT:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3396544 C T Variant 227042 RCV000217911 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3396544 C T Variant 227042 RCV000470033 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3396574 A C Variant 227872 RCV000217723 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3402775 G A Variant 381208 RCV000420246 365019 PRDM16 NM_022114.3:c.677-16G>A NM_022114.3:c.677-16G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3402828 C A Variant 227874 RCV000214448 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3402897 C T Variant 227043 RCV000220870 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3402897 C T Variant 227043 RCV000220870 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3402897 C T Variant 227043 RCV000228241 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3402936 C T Variant 227875 RCV000217462 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3402939 TG T Variant 377306 RCV000442803 364184 PRDM16 NM_022114.3:c.826delG NP_071397.3:p.Gly276Alafs NM_022114.3:c.826delG:frameshift variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 1 3402981 G A Variant 229169 RCV000223395 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 1 3402986 C T Variant 60728 RCV000054522 75288 PRDM16 NM_022114.3:c.872C>T NP_071397.3:p.Pro291Leu NM_022114.3:c.872C>T:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 +1 3404734 C T Variant 391408 RCV000431911 365024 PRDM16 NM_022114.3:c.885-5C>T NM_022114.3:c.885-5C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3404735 G A Variant 413870 RCV000457740 391323 PRDM16 NM_022114.3:c.885-4G>A NM_022114.3:c.885-4G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3405485 G A Variant 413861 RCV000466116 391327 PRDM16 NM_022114.3:c.1033-10G>A NM_022114.3:c.1033-10G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3405487 C T Variant 413872 RCV000465432 391224 PRDM16 NM_022114.3:c.1033-8C>T NM_022114.3:c.1033-8C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3405533 C T Variant 221025 RCV000204192 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3405533 C T Variant 221025 RCV000220538 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3405533 C T Variant 221025 RCV000220538 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3405543 G A Variant 229155 RCV000213682 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 1 3405555 G T Variant 229156 RCV000216650 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3405575 C T Variant 227022 RCV000214207 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3405578 G A Variant 227858 RCV000219433 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3405596 C G Variant 227859 RCV000222431 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3405575 C T Variant 227022 RCV000214207 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3405575 C T Variant 227022 RCV000475757 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3405578 G A Variant 227858 RCV000219433 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3405596 C G Variant 227859 RCV000222431 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3405596 C G Variant 227859 RCV000463379 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3411374 G C Variant 229157 RCV000221026 228431 PRDM16 NM_022114.3:c.1187-10G>C NM_022114.3:c.1187-10G>C:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411409 G A Variant 227023 RCV000217174 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3411409 G A Variant 227023 RCV000217174 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3411409 G A Variant 227023 RCV000230341 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3411522 G A Variant 373356 RCV000414577 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3411560 G A Variant 227860 RCV000214839 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3411590 C G Variant 406236 RCV000459138 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3411623 C T Variant 227024 RCV000221460 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411715 G A Variant 227025 RCV000214308 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3411623 C T Variant 227024 RCV000474106 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411682 G A Variant 406234 RCV000464362 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411715 G A Variant 227025 RCV000214308 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3411715 G A Variant 227025 RCV000461808 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3411734 G A Variant 241421 RCV000228195 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411742 G A Variant 413859 RCV000477564 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3411765 A AC Variant 280120 RCV000365162 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic Pathogenic criteria provided, single submitter criteria provided, single submitter GeneDx not provided;Not Provided germline MedGen:CN221809 1 3411771 G A Variant 229158 RCV000213365 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 1 3411775 G A Variant 227861 RCV000219165 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411794 T C Variant 227026 RCV000217271 228438 PRDM16 NM_022114.3:c.1597T>C NP_071397.3:p.Ser533Pro NM_022114.3:c.1597T>C:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3411775 G A Variant 227861 RCV000470998 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411794 T C Variant 227026 RCV000217271 228438 PRDM16 NM_022114.3:c.1597T>C NP_071397.3:p.Ser533Pro NM_022114.3:c.1597T>C:missense variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3411796 G A Variant 413858 RCV000471293 391333 PRDM16 NM_022114.3:c.1599G>A NP_071397.3:p.Ser533= NM_022114.3:c.1599G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3411829 C T Variant 241422 RCV000232157 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3411881 G A Variant 227862 RCV000223463 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3411881 G A Variant 227862 RCV000223463 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3411881 G A Variant 227862 RCV000459912 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3411916 G A Variant 241423 RCV000225997 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411994 G A Variant 390967 RCV000440662 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3412074 A T Variant 229159 RCV000217585 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412095 C T Variant 227027 RCV000221571 228440 PRDM16 NM_022114.3:c.1898C>T NP_071397.3:p.Pro633Leu NM_022114.3:c.1898C>T:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412079 G A Variant 406247 RCV000466162 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412095 C T Variant 227027 RCV000221571 228440 PRDM16 NM_022114.3:c.1898C>T NP_071397.3:p.Pro633Leu NM_022114.3:c.1898C>T:missense variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3412127 G A Variant 392339 RCV000431315 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3412159 G A Variant 413863 RCV000458957 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412162 C A Variant 391905 RCV000441266 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3412169 G C Variant 406241 RCV000462349 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412174 G A Variant 227863 RCV000215898 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412234 C T Variant 413865 RCV000461094 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412257 G C Variant 229160 RCV000221873 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 1 3412286 G T Variant 229161 RCV000214303 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 1 3412288 A T Variant 227028 RCV000215257 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412288 A T Variant 227028 RCV000470201 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412297 C T Variant 220733 RCV000204005 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412301 A T Variant 60724 RCV000054518 75284 PRDM16 NM_022114.3:c.2104A>T NP_071397.3:p.Lys702Ter NM_022114.3:c.2104A>T:nonsense Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412327 G A Variant 241424 RCV000232265 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412487 G A Variant 229162 RCV000217269 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412339 G A Variant 413867 RCV000462221 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412369 G A Variant 391055 RCV000418130 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3412478 G A Variant 406239 RCV000461410 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412487 G A Variant 229162 RCV000217269 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3412487 G A Variant 229162 RCV000226109 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412576 G A Variant 413873 RCV000473649 391232 PRDM16 NM_022114.3:c.2379G>A NP_071397.3:p.Ser793= NM_022114.3:c.2379G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412583 G A Variant 424068 RCV000478115 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3412603 G A Variant 390010 RCV000438891 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3412631 C T Variant 229163 RCV000221476 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412640 C T Variant 406222 RCV000468700 391182 PRDM16 NM_022114.3:c.2443C>T NP_071397.3:p.Gln815Ter NM_022114.3:c.2443C>T:nonsense Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412644 A G Variant 60726 RCV000054520 75286 PRDM16 NM_022114.3:c.2447A>G NP_071397.3:p.Asn816Ser NM_022114.3:c.2447A>G:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412645 C T Variant 388234 RCV000421212 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3412645 C T Variant 388234 RCV000471531 365129 PRDM16 NM_022114.3:c.2448C>T NP_071397.3:p.Asn816= NM_022114.3:c.2448C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412646 G A Variant 241425 RCV000230075 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412649 G A Variant 241426 RCV000232966 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412665 G C Variant 227865 RCV000223185 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266,26350513 germline MedGen:CN169374 +1 3412649 G A Variant 241426 RCV000418666 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3412664 C T Variant 406245 RCV000471354 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412665 G C Variant 227865 RCV000223185 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266,26350513 germline MedGen:CN169374 1 3412665 G C Variant 227865 RCV000226799 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412699 C T Variant 227029 RCV000219694 228449 PRDM16 NM_022114.3:c.2502C>T NP_071397.3:p.Gly834= NM_022114.3:c.2502C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412699 C T Variant 227029 RCV000219694 228449 PRDM16 NM_022114.3:c.2502C>T NP_071397.3:p.Gly834= NM_022114.3:c.2502C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3412703 G A Variant 227030 RCV000221333 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412703 G A Variant 227030 RCV000469328 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412733 C T Variant 406238 RCV000476374 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3412773 C T Variant 229164 RCV000215161 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 -1 3414590 C T Variant 227866 RCV000216924 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412773 C T Variant 229164 RCV000468206 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412820 C T Variant 381194 RCV000433986 365234 PRDM16 NM_022114.3:c.2603+20C>T NM_022114.3:c.2603+20C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3414590 C T Variant 227866 RCV000216924 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3414590 C T Variant 227866 RCV000469880 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3414602 G A Variant 413866 RCV000467739 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3414616 T C Variant 60729 RCV000054523 75289 PRDM16 NM_022114.3:c.2660T>C NP_071397.3:p.Leu887Pro NM_022114.3:c.2660T>C:missense variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 -1 3414629 G A Variant 227031 RCV000215017 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3414629 G A Variant 227031 RCV000215017 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3414629 G A Variant 227031 RCV000475588 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3414652 G A Variant 390179 RCV000437038 365238 PRDM16 NM_022114.3:c.2691+5G>A NM_022114.3:c.2691+5G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3417818 A G Variant 390108 RCV000434063 365235 PRDM16 NM_022114.3:c.2692-10A>G NM_022114.3:c.2692-10A>G:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3417818 A G Variant 390108 RCV000457891 365235 PRDM16 NM_022114.3:c.2692-10A>G NM_022114.3:c.2692-10A>G:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3417877 T C Variant 241427 RCV000229654 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3417883 C T Variant 218791 RCV000203205 215209 PRDM16 NM_022114.3:c.2747C>T NP_071397.3:p.Ala916Val NM_022114.3:c.2747C>T:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;Not specified unknown MedGen:CN169374 1 3417916 A C Variant 373755 RCV000413206 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3417922 C A Variant 229165 RCV000219521 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3417929 C T Variant 227032 RCV000219295 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3417929 C T Variant 227032 RCV000219295 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3417929 C T Variant 227032 RCV000233639 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3417941 A ACC Variant 229166 RCV000221072 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3417945 C G Variant 406243 RCV000475724 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3417949 C T Variant 406242 RCV000471782 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3417951 C G Variant 373801 RCV000414615 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3417951 C G Variant 373801 RCV000474992 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3417992 G A Variant 227867 RCV000219939 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3425563 C T Variant 392369 RCV000419766 365132 PRDM16 NM_022114.3:c.2940-18C>T NM_022114.3:c.2940-18C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3425564 G A Variant 386315 RCV000441639 365137 PRDM16 NM_022114.3:c.2940-17G>A NM_022114.3:c.2940-17G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3425566 G A Variant 229167 RCV000214743 228458 PRDM16 NM_022114.3:c.2940-15G>A NM_022114.3:c.2940-15G>A:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 1 3425594 G A Variant 373270 RCV000413640 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3425743 C T Variant 241428 RCV000226908 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3425760 G A Variant 227033 RCV000223403 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3425762 G C Variant 227868 RCV000213653 228460 PRDM16 NM_022114.3:c.3109+12G>C NM_022114.3:c.3109+12G>C:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3425743 C T Variant 241428 RCV000444388 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3425760 G A Variant 227033 RCV000223403 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3425760 G A Variant 227033 RCV000460045 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3425762 G C Variant 227868 RCV000213653 228460 PRDM16 NM_022114.3:c.3109+12G>C NM_022114.3:c.3109+12G>C:intron variant Likely benign Likely benign;Likely benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3426047 G A Variant 227869 RCV000217996 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3426047 G A Variant 227869 RCV000465584 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3426070 C T Variant 241429 RCV000230873 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3426071 C T Variant 227034 RCV000215790 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3426071 C T Variant 227034 RCV000215790 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3426071 C T Variant 227034 RCV000232612 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3426076 G A Variant 227870 RCV000220998 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3426080 C A Variant 423292 RCV000486279 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 criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3426210 C T Variant 241430 RCV000227583 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3426240 G T Variant 227035 RCV000218772 228464 PRDM16 NM_022114.3:c.3284+15G>T NM_022114.3:c.3284+15G>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3426211 G A Variant 413871 RCV000458810 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3426240 G T Variant 227035 RCV000218772 228464 PRDM16 NM_022114.3:c.3284+15G>T NM_022114.3:c.3284+15G>T:intron variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3430888 G A Variant 60727 RCV000054521 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 no assertion criteria provided no assertion criteria provided OMIM Dilated cardiomyopathy 1LL;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 23768516,27535533 germline MedGen:CN178850;OMIM:615373 1 3430888 G A Variant 60727 RCV000204421 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3430888 G A Variant 60727 RCV000223010 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3430950 G GGAC Variant 413868 RCV000475206 391341 PRDM16 NM_022114.3:c.3369_3371dupCGA NP_071397.3:p.Asp1125_Leu1126insAsp Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3430953 C T Variant 227871 RCV000213381 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 criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3430956 C T Variant 227036 RCV000216881 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3430956 C T Variant 227036 RCV000216881 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 1 3430956 C T Variant 227036 RCV000230406 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3431029 G A Variant 406233 RCV000460254 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3431031 G A Variant 413862 RCV000464489 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3431041 G A Variant 406235 RCV000473925 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 1 3432065 A T Variant 241431 RCV000234393 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3432131 T C Variant 227037 RCV000219826 228467 PRDM16 NM_022114.3:c.3687T>C NP_071397.3:p.Ala1229= NM_022114.3:c.3687T>C:synonymous variant Benign Benign criteria provided, single submitter criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3432131 T C Variant 227037 RCV000219826 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3432151 G A Variant 390334 RCV000438994 365138 PRDM16 NM_022114.3:c.3696+11G>A NM_022114.3:c.3696+11G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 +1 3433730 C T Variant 413860 RCV000456779 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 criteria provided, single submitter criteria provided, single submitter Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3433813 G A Variant 389898 RCV000440648 365038 PRDM16 NM_022114.3:c.*2G>A Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter GeneDx not specified;not specified germline MedGen:CN169374 1 3816372 T C Variant 221277 RCV000207283 222988 CEP104 NM_014704.3:c.2572-2A>G NM_014704.3:c.2572-2A>G:splice acceptor variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 1 3835079 T TA Variant 221275 RCV000207071 222986 CEP104 NM_014704.3:c.1328_1329insT NP_055519.1:p.Tyr444Leufs NM_014704.3:c.1328_1329insT:frameshift variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 1 3839606 A G Variant 221274 RCV000207253 222985 CEP104 NM_014704.3:c.735+2T>C NM_014704.3:c.735+2T>C:splice donor variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546,7 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 @@ -531,8 +711,9 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 5863239 G A Variant 297783 RCV000317634 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 1 5863239 G A Variant 297783 RCV000374332 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 criteria provided, single submitter criteria provided, single submitter 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 1 5863309 C T Variant 297784 RCV000282410 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5863309 C T Variant 297784 RCV000339705 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5863309 C T Variant 297784 RCV000339705 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina;Invitae Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 1 5863367 A T Variant 95686 RCV000081719 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 Benign Benign criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 +1 5863367 A T Variant 95686 RCV000476917 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis 0,2,27004616,27336129,95686 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 1 5863401 C T Variant 196631 RCV000177474 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 5863403 G A Variant 288025 RCV000266655 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 5863416 G A Variant 260560 RCV000246011 249993 NPHP4 NM_015102.4:c.4141-11C>T NM_015102.4:c.4141-11C>T:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 @@ -560,191 +741,10 @@ chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs 1 5864470 G A Variant 297786 RCV000264957 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 criteria provided, single submitter criteria provided, single submitter 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 1 5864470 G A Variant 297786 RCV000375871 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 1 5864483 C T Variant 286996 RCV000395711 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5864483 C T Variant 286996 RCV000477226 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 1 5864491 C A Variant 167370 RCV000153582 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 5864497 G A Variant 167371 RCV000153583 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 5864497 G A Variant 167371 RCV000199892 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 1 5865141 C T Variant 287096 RCV000278432 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 1 5865141 C T Variant 287096 RCV000322356 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 1 5865141 C T Variant 287096 RCV000379124 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5865156 C A Variant 297787 RCV000287037 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865156 C A Variant 297787 RCV000344394 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5865160 C T Variant 297788 RCV000290652 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865160 C T Variant 297788 RCV000382692 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5865161 G A Variant 286539 RCV000310947 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5865164 G A Variant 95684 RCV000081717 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5865195 G A Variant 297789 RCV000347891 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865195 G A Variant 297789 RCV000401689 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5865213 G A Variant 297790 RCV000312869 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865213 G A Variant 297790 RCV000352075 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5865215 G A Variant 297791 RCV000298425 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5865215 G A Variant 297791 RCV000407610 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865244 G A Variant 196032 RCV000176754 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5865244 G A Variant 196032 RCV000231868 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 criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865288 G A Variant 297792 RCV000263212 283017 NPHP4 NM_015102.4:c.3645-15C>T NM_015102.4:c.3645-15C>T:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865288 G A Variant 297792 RCV000355588 283017 NPHP4 NM_015102.4:c.3645-15C>T NM_015102.4:c.3645-15C>T:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5865311 G A Variant 260559 RCV000248599 249994 NPHP4 NM_015102.4:c.3645-38C>T NM_015102.4:c.3645-38C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5866405 C T Variant 297793 RCV000302018 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5866405 C T Variant 297793 RCV000359177 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5866442 C T Variant 195976 RCV000176676 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5866443 G A Variant 188389 RCV000168448 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 Uncertain significance Uncertain significance no assertion criteria provided no assertion criteria provided Invitae Nephronophthisis;Nephronophthisis 0,15776426,22550138,27336129,3574,4 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5866443 G A Variant 188389 RCV000271940 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified 15776426,26346198 germline MedGen:CN169374 -1 5866447 T C Variant 95683 RCV000081716 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;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 23757202,25741868 germline MedGen:CN169374 -1 5866447 T C Variant 95683 RCV000266333 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5866447 T C Variant 95683 RCV000324301 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5866476 AG A Variant 260558 RCV000253685 249995 NPHP4 NM_015102.4:c.3559-19delC NM_015102.4:c.3559-19delC:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5867070 C T Variant 297794 RCV000270302 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5867070 C T Variant 297794 RCV000362620 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5867109 G A Variant 220304 RCV000205285 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 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Invitae;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5867109 G A Variant 220304 RCV000248751 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 Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5867109 G A Variant 220304 RCV000384533 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5867131 T C Variant 260557 RCV000243373 249996 NPHP4 NM_015102.4:c.3473-16A>G NM_015102.4:c.3473-16A>G:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5867734 A G Variant 260556 RCV000251356 249997 NPHP4 NM_015102.4:c.3472+6T>C NM_015102.4:c.3472+6T>C:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5867758 G A Variant 195828 RCV000176491 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5867767 G A Variant 287251 RCV000353388 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5867827 C T Variant 289977 RCV000281891 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5867883 G A Variant 95682 RCV000081715 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5867883 G A Variant 95682 RCV000292444 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5867883 G A Variant 95682 RCV000331197 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5873220 C T Variant 260555 RCV000246810 249998 NPHP4 NM_015102.4:c.3315+32G>A NM_015102.4:c.3315+32G>A:intron variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5873324 C G Variant 95681 RCV000081714 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 Benign Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 23757202,25741868 germline MedGen:CN169374 -1 5873324 C G Variant 95681 RCV000296377 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5873324 C G Variant 95681 RCV000388001 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5874430 A G Variant 260554 RCV000252694 249999 NPHP4 NM_015102.4:c.3231+41T>C NM_015102.4:c.3231+41T>C:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5874440 T C Variant 260553 RCV000247753 250000 NPHP4 NM_015102.4:c.3231+31A>G NM_015102.4:c.3231+31A>G:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5874466 C T Variant 297795 RCV000335051 283022 NPHP4 NM_015102.4:c.3231+5G>A NM_015102.4:c.3231+5G>A:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5874466 C T Variant 297795 RCV000398811 283022 NPHP4 NM_015102.4:c.3231+5G>A NM_015102.4:c.3231+5G>A:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874521 C T Variant 167372 RCV000153584 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874534 G A Variant 288722 RCV000307652 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874542 G A Variant 190976 RCV000171147 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 criteria provided, single submitter criteria provided, single submitter Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre not provided;Not provided 25741868 germline MedGen:CN221809 -1 5874552 C T Variant 288724 RCV000273056 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874558 G A Variant 240970 RCV000234198 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 criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874584 T C Variant 286777 RCV000366209 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874592 T G Variant 291100 RCV000373342 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874621 C T Variant 260552 RCV000243174 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 criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5874624 G A Variant 297796 RCV000280994 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5874624 G A Variant 297796 RCV000338607 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874629 C G Variant 297797 RCV000303466 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874629 C G Variant 297797 RCV000392493 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5874650 C T Variant 220869 RCV000206676 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 criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874656 C T Variant 297798 RCV000360589 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874656 C T Variant 297798 RCV000392484 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5874661 G T Variant 297799 RCV000307136 280976 NPHP4 NM_015102.4:c.3045-4C>A NM_015102.4:c.3045-4C>A:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874661 G T Variant 297799 RCV000364227 280976 NPHP4 NM_015102.4:c.3045-4C>A NM_015102.4:c.3045-4C>A:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5874882 G A Variant 195613 RCV000176220 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5874890 C T Variant 195609 RCV000176217 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874891 G A Variant 297800 RCV000272007 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5874891 G A Variant 297800 RCV000329409 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874906 C T Variant 291268 RCV000379083 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874946 A G Variant 3402 RCV000003571 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 no assertion criteria provided no assertion criteria provided OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 -1 5874953 C T Variant 195608 RCV000176216 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874953 C T Variant 195608 RCV000261619 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874953 C T Variant 195608 RCV000367814 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5874954 G A Variant 290383 RCV000351809 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874959 C T Variant 286338 RCV000345507 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874973 T TGGAGC Variant 95680 RCV000081713 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 no assertion criteria provided no assertion criteria provided Emory Genetics Laboratory,Emory University not provided;not provided 23757202 germline MedGen:CN221809 -1 5874979 G A Variant 289035 RCV000400326 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875004 T C Variant 195610 RCV000176218 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 Benign criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875004 T C Variant 195610 RCV000224574 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 Likely benign Likely Benign criteria provided, single submitter criteria provided, single submitter Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 -1 5875016 C T Variant 291052 RCV000279729 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875026 G A Variant 195614 RCV000176221 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875036 C T Variant 167373 RCV000153585 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875036 C T Variant 167373 RCV000206662 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 criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5875042 C T Variant 240969 RCV000231338 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 Conflicting interpretations of pathogenicity Benign;Likely benign criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Invitae;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5875042 C T Variant 240969 RCV000389915 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter 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 -1 5875050 G A Variant 167374 RCV000153586 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 Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5875050 G A Variant 167374 RCV000295648 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter 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 -1 5875050 G A Variant 167374 RCV000331805 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5875069 C T Variant 291277 RCV000314498 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875098 C T Variant 260551 RCV000242359 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5875098 C T Variant 260551 RCV000291890 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5875098 C T Variant 260551 RCV000386368 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 Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5875120 G A Variant 195612 RCV000176219 192773 NPHP4 NM_015102.4:c.2818-20C>T NM_015102.4:c.2818-20C>T:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877098 C T Variant 260550 RCV000250885 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 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 -1 5877102 C T Variant 240968 RCV000227512 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 Conflicting interpretations of pathogenicity Benign;Likely benign criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Invitae;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5877102 C T Variant 240968 RCV000245940 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 Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 -1 5877102 C T Variant 240968 RCV000401361 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter 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 -1 5877103 G A Variant 284756 RCV000398485 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877103 G T Variant 167376 RCV000153588 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877108 G A Variant 95679 RCV000081712 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;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 23757202,25741868 germline MedGen:CN169374 -1 5877108 G A Variant 95679 RCV000288432 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5877108 G A Variant 95679 RCV000343148 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5877186 C T Variant 95678 RCV000081711 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 Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 23757202,25741868 germline MedGen:CN169374 -1 5877186 C T Variant 95678 RCV000303360 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5877186 C T Variant 95678 RCV000399353 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter 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 -1 5877200 C T Variant 297801 RCV000358103 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5877200 C T Variant 297801 RCV000407118 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5877209 G A Variant 297802 RCV000300044 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5877209 G A Variant 297802 RCV000354793 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5877223 C T Variant 286862 RCV000301378 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877257 T G Variant 291103 RCV000284900 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877257 TGTCCAC GGTCCAT Variant 291179 RCV000393877 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877263 C T Variant 291099 RCV000316330 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877267 C T Variant 95677 RCV000081710 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 Benign;Benign criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 23757202,25741868 germline MedGen:CN169374 -1 5877267 C T Variant 95677 RCV000260042 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5877267 C T Variant 95677 RCV000314742 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 Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter 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 -1 5877268 G A Variant 297803 RCV000274871 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5877268 G A Variant 297803 RCV000369396 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5877331 C T Variant 260547 RCV000243253 250004 NPHP4 NM_015102.4:c.2612-33G>A NM_015102.4:c.2612-33G>A:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5880156 G A Variant 288104 RCV000318135 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5880168 C A Variant 297804 RCV000330012 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5880168 C A Variant 297804 RCV000384597 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5880182 C T Variant 95676 RCV000081709 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5880183 G A Variant 95675 RCV000081708 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5880194 G A Variant 297805 RCV000271097 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5880194 G A Variant 297805 RCV000326128 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5880206 C T Variant 289888 RCV000334924 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5880215 C T Variant 194970 RCV000175463 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5887248 G A Variant 260546 RCV000253302 250005 NPHP4 NM_015102.4:c.2485+38C>T NM_015102.4:c.2485+38C>T:intron variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5887306 T C Variant 194865 RCV000175333 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5887312 C T Variant 297806 RCV000286794 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5887312 C T Variant 297806 RCV000380703 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5887313 G A Variant 287002 RCV000264657 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5887346 T C Variant 194866 RCV000175334 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5887352 G A Variant 297807 RCV000341820 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 criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5887352 G A Variant 297807 RCV000377653 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 criteria provided, single submitter criteria provided, single submitter 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 -1 5887394 G A Variant 3400 RCV000003569 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 no assertion criteria provided no assertion criteria provided OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 -1 5887403 C A Variant 3399 RCV000003568 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 no assertion criteria provided no assertion criteria provided OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 -1 5887411 A T Variant 156398 RCV000144480 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 no assertion criteria provided no assertion criteria provided 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;MedGen:C0339527;OMIM:204000;OMIM:PS204000;Office of Rare Diseases:634;Orphanet:ORPHA65;SNOMED CT:193413001 -1 5887436 G A Variant 3404 RCV000003573 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 no assertion criteria provided no assertion criteria provided OMIM Senior-Loken syndrome 4;SENIOR-LOKEN SYNDROME 4 11920287,12205563,6837691 Childhood <1 / 1 000 000 germline Genetic Alliance:Senior-Loken+syndrome+4/9280;Genetics Home Reference:senior-loken-syndrome;MedGen:C1846979;OMIM:606996;Orphanet:3156 -1 5887436 G A Variant 3404 RCV000234814 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 no assertion criteria provided no assertion criteria provided GeneReviews Nephronophthisis 12205563,27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890879 C T Variant 95674 RCV000081707 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 criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5890879 C T Variant 95674 RCV000196064 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 criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890912 C T Variant 297808 RCV000283252 282765 NPHP4 NM_015102.4:c.2260G>A NP_055917.1:p.Gly754Arg NM_015102.4:c.2260G>A:missense variant;NR_111987.1:n.2525G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 12205563,15776426,16339905,17558407,21546380,21866095,27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890912 C T Variant 297808 RCV000338114 282765 NPHP4 NM_015102.4:c.2260G>A NP_055917.1:p.Gly754Arg NM_015102.4:c.2260G>A:missense variant;NR_111987.1:n.2525G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5890913 G A Variant 289327 RCV000296052 273564 NPHP4 NM_015102.4:c.2259C>T NP_055917.1:p.Asp753= NM_015102.4:c.2259C>T:synonymous variant;NR_111987.1:n.2524C>T:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5890913 G A Variant 289327 RCV000298397 273564 NPHP4 NM_015102.4:c.2259C>T NP_055917.1:p.Asp753= NM_015102.4:c.2259C>T:synonymous variant;NR_111987.1:n.2524C>T:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5890913 G A Variant 289327 RCV000400933 273564 NPHP4 NM_015102.4:c.2259C>T NP_055917.1:p.Asp753= NM_015102.4:c.2259C>T:synonymous variant;NR_111987.1:n.2524C>T:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890915 C T Variant 194764 RCV000175205 191927 NPHP4 NM_015102.4:c.2257G>A NP_055917.1:p.Asp753Asn NM_015102.4:c.2257G>A:missense variant;NR_111987.1:n.2522G>A:non-coding transcript variant Benign Benign criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5890915 C T Variant 194764 RCV000204681 191927 NPHP4 NM_015102.4:c.2257G>A NP_055917.1:p.Asp753Asn NM_015102.4:c.2257G>A:missense variant;NR_111987.1:n.2522G>A:non-coding transcript variant Conflicting interpretations of pathogenicity Benign;Uncertain significance criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Invitae;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890915 C T Variant 194764 RCV000392070 191927 NPHP4 NM_015102.4:c.2257G>A NP_055917.1:p.Asp753Asn NM_015102.4:c.2257G>A:missense variant;NR_111987.1:n.2522G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5890926 A G Variant 297809 RCV000312745 281565 NPHP4 NM_015102.4:c.2246T>C NP_055917.1:p.Ile749Thr NM_015102.4:c.2246T>C:missense variant;NR_111987.1:n.2511T>C:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5890926 A G Variant 297809 RCV000367388 281565 NPHP4 NM_015102.4:c.2246T>C NP_055917.1:p.Ile749Thr NM_015102.4:c.2246T>C:missense variant;NR_111987.1:n.2511T>C:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890942 C T Variant 297810 RCV000272818 280978 NPHP4 NM_015102.4:c.2230G>A NP_055917.1:p.Val744Met NM_015102.4:c.2230G>A:missense variant;NR_111987.1:n.2495G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5890942 C T Variant 297810 RCV000309369 280978 NPHP4 NM_015102.4:c.2230G>A NP_055917.1:p.Val744Met NM_015102.4:c.2230G>A:missense variant;NR_111987.1:n.2495G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890953 C T Variant 240967 RCV000233672 238340 NPHP4 NM_015102.4:c.2219G>A NP_055917.1:p.Arg740His NM_015102.4:c.2219G>A:missense variant;NR_111987.1:n.2484G>A:non-coding transcript variant Conflicting interpretations of pathogenicity Benign;Likely benign criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Invitae;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890953 C T Variant 240967 RCV000248287 238340 NPHP4 NM_015102.4:c.2219G>A NP_055917.1:p.Arg740His NM_015102.4:c.2219G>A:missense variant;NR_111987.1:n.2484G>A:non-coding transcript variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5890953 C T Variant 240967 RCV000364078 238340 NPHP4 NM_015102.4:c.2219G>A NP_055917.1:p.Arg740His NM_015102.4:c.2219G>A:missense variant;NR_111987.1:n.2484G>A:non-coding transcript variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter 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 -1 5890969 G A Variant 194765 RCV000175206 191928 NPHP4 NM_015102.4:c.2203C>T NP_055917.1:p.Arg735Trp NM_015102.4:c.2203C>T:missense variant;NR_111987.1:n.2468C>T:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified 15776426 germline MedGen:CN169374 -1 5890974 C T Variant 156399 RCV000144481 166179 NPHP4 NM_015102.4:c.2198G>A NP_055917.1:p.Gly733Asp NM_015102.4:c.2198G>A:missense variant;NR_111987.1:n.2463G>A:non-coding transcript variant Uncertain significance Uncertain significance no assertion criteria provided no assertion criteria provided 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;MedGen:C0339527;OMIM:204000;OMIM:PS204000;Office of Rare Diseases:634;Orphanet:ORPHA65;SNOMED CT:193413001 -1 5904618 A T Variant 290903 RCV000349584 275140 NPHP4 NM_015102.4:c.2142T>A NP_055917.1:p.Ala714= NM_015102.4:c.2142T>A:synonymous variant;NR_111987.1:n.2407T>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5904645 A G Variant 297811 RCV000324605 283026 NPHP4 NM_015102.4:c.2115T>C NP_055917.1:p.Pro705= NM_015102.4:c.2115T>C:synonymous variant;NR_111987.1:n.2380T>C:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5904645 A G Variant 297811 RCV000379250 283026 NPHP4 NM_015102.4:c.2115T>C NP_055917.1:p.Pro705= NM_015102.4:c.2115T>C:synonymous variant;NR_111987.1:n.2380T>C:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5904709 T C Variant 283814 RCV000376589 268051 NPHP4 NM_015102.4:c.2051A>G NP_055917.1:p.Gln684Arg NM_015102.4:c.2051A>G:missense variant;NR_111987.1:n.2316A>G:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5904716 G A Variant 3401 RCV000003570 18440 NPHP4 NM_015102.4:c.2044C>T NP_055917.1:p.Arg682Ter NM_015102.4:c.2044C>T:nonsense;NR_111987.1:n.2309C>T:non-coding transcript variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 -1 5904716 G A Variant 3401 RCV000162133 18440 NPHP4 NM_015102.4:c.2044C>T NP_055917.1:p.Arg682Ter NM_015102.4:c.2044C>T:nonsense;NR_111987.1:n.2309C>T:non-coding transcript variant Likely pathogenic Likely pathogenic no assertion criteria provided no assertion criteria provided Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Infertility;Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities);Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities);Infertility 25558065 germline Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre:12DG0088;Human Phenotype Ontology:HP:0000789;MedGen:CN000737;MedGen:CN228268 -1 5904728 C A Variant 291245 RCV000384834 275482 NPHP4 NM_015102.4:c.2032G>T NP_055917.1:p.Ala678Ser NM_015102.4:c.2032G>T:missense variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5904729 G A Variant 240966 RCV000230949 238341 NPHP4 NM_015102.4:c.2031C>T NP_055917.1:p.Pro677= NM_015102.4:c.2031C>T:synonymous variant;NR_111987.1:n.2296C>T:non-coding transcript variant Conflicting interpretations of pathogenicity Benign;Likely benign criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Invitae;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5904729 G A Variant 240966 RCV000244563 238341 NPHP4 NM_015102.4:c.2031C>T NP_055917.1:p.Pro677= NM_015102.4:c.2031C>T:synonymous variant;NR_111987.1:n.2296C>T:non-coding transcript variant Benign Benign criteria provided, single submitter criteria provided, single submitter PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5904729 G A Variant 240966 RCV000266088 238341 NPHP4 NM_015102.4:c.2031C>T NP_055917.1:p.Pro677= NM_015102.4:c.2031C>T:synonymous variant;NR_111987.1:n.2296C>T:non-coding transcript variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter 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 -1 5904773 G T Variant 297812 RCV000280518 281570 NPHP4 NM_015102.4:c.1987C>A NP_055917.1:p.Pro663Thr NM_015102.4:c.1987C>A:missense variant;NR_111987.1:n.2252C>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5904773 G T Variant 297812 RCV000375877 281570 NPHP4 NM_015102.4:c.1987C>A NP_055917.1:p.Pro663Thr NM_015102.4:c.1987C>A:missense variant;NR_111987.1:n.2252C>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5904788 G A Variant 3405 RCV000003574 18444 NPHP4 NM_015102.4:c.1972C>T NP_055917.1:p.Arg658Ter NM_015102.4:c.1972C>T:nonsense;NR_111987.1:n.2237C>T:non-coding transcript variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided OMIM Senior-Loken syndrome 4;SENIOR-LOKEN SYNDROME 4 12205563,1248184 Childhood <1 / 1 000 000 germline Genetic Alliance:Senior-Loken+syndrome+4/9280;Genetics Home Reference:senior-loken-syndrome;MedGen:C1846979;OMIM:606996;Orphanet:3156 -1 5904788 G A Variant 3405 RCV000234826 18444 NPHP4 NM_015102.4:c.1972C>T NP_055917.1:p.Arg658Ter NM_015102.4:c.1972C>T:nonsense;NR_111987.1:n.2237C>T:non-coding transcript variant Pathogenic Pathogenic no assertion criteria provided no assertion criteria provided GeneReviews Nephronophthisis 12205563,27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5904794 C T Variant 194659 RCV000175082 191822 NPHP4 NM_015102.4:c.1966G>A NP_055917.1:p.Asp656Asn NM_015102.4:c.1966G>A:missense variant;NR_111987.1:n.2231G>A:non-coding transcript variant Benign Benign criteria provided, single submitter criteria provided, single submitter Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5904794 C T Variant 194659 RCV000335529 191822 NPHP4 NM_015102.4:c.1966G>A NP_055917.1:p.Asp656Asn NM_015102.4:c.1966G>A:missense variant;NR_111987.1:n.2231G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5904794 C T Variant 194659 RCV000371477 191822 NPHP4 NM_015102.4:c.1966G>A NP_055917.1:p.Asp656Asn NM_015102.4:c.1966G>A:missense variant;NR_111987.1:n.2231G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5905285 G T Variant 297813 RCV000295698 283037 NPHP4 NM_015102.4:c.1955+7C>A NM_015102.4:c.1955+7C>A:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 -1 5905285 G T Variant 297813 RCV000351664 283037 NPHP4 NM_015102.4:c.1955+7C>A NM_015102.4:c.1955+7C>A:intron variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5905312 T C Variant 215885 RCV000198366 212107 NPHP4 NM_015102.4:c.1935A>G NP_055917.1:p.Leu645= NM_015102.4:c.1935A>G:synonymous variant;NR_111987.1:n.2200A>G:non-coding transcript variant Likely benign Likely benign criteria provided, single submitter criteria provided, single submitter Invitae Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5905318 C T Variant 297814 RCV000312028 282769 NPHP4 NM_015102.4:c.1929G>A NP_055917.1:p.Met643Ile NM_015102.4:c.1929G>A:missense variant;NR_111987.1:n.2194G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5905318 C T Variant 297814 RCV000398959 282769 NPHP4 NM_015102.4:c.1929G>A NP_055917.1:p.Met643Ile NM_015102.4:c.1929G>A:missense variant;NR_111987.1:n.2194G>A:non-coding transcript variant Uncertain significance Uncertain significance criteria provided, single submitter criteria provided, single submitter 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 diff --git a/output/b38/single/clinvar_alleles.single.b38.tsv.gz b/output/b38/single/clinvar_alleles.single.b38.tsv.gz old mode 100644 new mode 100755 index f875a92..c3a2cea 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 old mode 100644 new mode 100755 index 0254ec5..f039bde 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 old mode 100644 new mode 100755 index ff532a7..07b324e 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 old mode 100644 new mode 100755 index f91f7b2..41147ee 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 aa9dfee..52c1f2b 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 @@ -1,750 +1,750 @@ -chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance pathogenic benign conflicted review_status gold_stars all_submitters all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs -1 1014143 C T Variant 183381 RCV000162196 181485 ISG15 NM_005101.3:c.163C>T NP_005092.1:p.Gln55Ter NM_005101.3:c.163C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 -1 1014316 C CG Variant 161455 RCV000148989 171289 ISG15 NM_005101.3:c.339dupG NP_005092.1:p.Leu114Alafs NM_005101.3:c.339dupG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 1,22859821,25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 -1 1014359 G T Variant 161454 RCV000148988 171288 ISG15 NM_005101.3:c.379G>T NP_005092.1:p.Glu127Ter NM_005101.3:c.379G>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 22859821,25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 -1 1020217 G T Variant 128310 RCV000116272 133759 AGRN NM_198576.3:c.45G>T NP_940978.2:p.Pro15= NM_198576.3:c.45G>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1020239 G C Variant 210112 RCV000193277 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1022188 A G Variant 263166 RCV000250556 249265 AGRN NM_198576.3:c.202-13A>G NM_198576.3:c.202-13A>G:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1022225 G A Variant 243036 RCV000235037 244110 AGRN NM_198576.3:c.226G>A NP_940978.2:p.Gly76Ser NM_198576.3:c.226G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Congenital myasthenic syndrome 20301347,24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1022260 C T Variant 128296 RCV000116258 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1022313 A T Variant 243037 RCV000235021 244111 AGRN NM_198576.3:c.314A>T NP_940978.2:p.Asn105Ile NM_198576.3:c.314A>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Congenital myasthenic syndrome 20301347,24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1040679 C T Variant 210111 RCV000195231 206691 AGRN NM_198576.3:c.526C>T NP_940978.2:p.Leu176= NM_198576.3:c.526C>T:synonymous variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1041174 C G Variant 263202 RCV000241878 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1041183 C T Variant 263203 RCV000246662 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1041218 C T Variant 263204 RCV000249809 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1041249 C T Variant 128320 RCV000116282 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago not specified;AllHighlyPenetrant 18414213 germline MedGen:CN169374 -1 1041582 C T Variant 126556 RCV000114428;RCV000235030 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 22205389;20301347 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590;GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1041583 A G Variant 128291 RCV000116253 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Likely benign 0 1 0 no assertion criteria provided 0 Genetic Services Laboratory, University of Chicago not specified;AllHighlyPenetrant germline MedGen:CN169374 -1 1041648 G T Variant 263158 RCV000243499 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 -1 1041950 T C Variant 128292 RCV000116254 133741 AGRN NM_198576.3:c.1178-6T>C NM_198576.3:c.1178-6T>C:intron variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1042136 T TC Variant 243038 RCV000235036 244112 AGRN NM_198576.3:c.1362dupC NP_940978.2:p.Ser455GlnfsTer8 NM_198576.3:c.1362dupC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1042190 G A Variant 263159 RCV000251375 249309 AGRN NM_198576.3:c.1384+28G>A NM_198576.3:c.1384+28G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1043223 CCT C Variant 263160 RCV000244801 249310 AGRN NM_198576.3:c.1385-15_1385-14delCT NM_198576.3:c.1385-15_1385-14delCT:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1043248 C T Variant 263161 RCV000249555 249311 AGRN NM_198576.3:c.1394C>T NP_940978.2:p.Pro465Leu NM_198576.3:c.1394C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1043288 G A Variant 263162 RCV000254334 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1043382 G A Variant 263163 RCV000244472 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1043476 G A Variant 263164 RCV000249242 249314 AGRN NM_198576.3:c.1603+19G>A NM_198576.3:c.1603+19G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1043594 G A Variant 263165 RCV000254010 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1044017 G A Variant 210106 RCV000192681 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1044134 C G Variant 128293 RCV000116255 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1044176 G A Variant 263167 RCV000245482 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1044368 A T Variant 128294 RCV000116256 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1044455 G A Variant 263168 RCV000242021 249317 AGRN NM_198576.3:c.2254+16G>A NM_198576.3:c.2254+16G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045172 G A Variant 263169 RCV000245180 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045177 G A Variant 263170 RCV000249944 249319 AGRN NM_198576.3:c.2271G>A NP_940978.2:p.Pro757= NM_198576.3:c.2271G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045393 C T Variant 128295 RCV000116257 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045444 G C Variant 190974 RCV000246474 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045460 C T Variant 210107 RCV000194095 206693 AGRN NM_198576.3:c.2473C>T NP_940978.2:p.Arg825Cys NM_198576.3:c.2473C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 -1 1045568 C T Variant 263171 RCV000252843 249320 AGRN NM_198576.3:c.2536+45C>T NM_198576.3:c.2536+45C>T:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045707 A G Variant 263172 RCV000243014 249321 AGRN NM_198576.3:c.2537-26A>G NM_198576.3:c.2537-26A>G:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045751 A G Variant 263173 RCV000247794 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045785 G A Variant 263174 RCV000252551 249323 AGRN NM_198576.3:c.2589G>A NP_940978.2:p.Thr863= NM_198576.3:c.2589G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045948 C G Variant 263175 RCV000249068 249324 AGRN NM_198576.3:c.2681-16C>G NM_198576.3:c.2681-16C>G:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045965 C T Variant 263176 RCV000252248 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1045973 C T Variant 235570 RCV000224244 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 -1 1046079 C T Variant 263177 RCV000244043 249326 AGRN NM_198576.3:c.2796C>T NP_940978.2:p.Asn932= NM_198576.3:c.2796C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1046488 C T Variant 263178 RCV000248800 249327 AGRN NM_198576.3:c.3003C>T NP_940978.2:p.Pro1001= NM_198576.3:c.3003C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1046551 A G Variant 128297 RCV000116259 133746 AGRN NM_198576.3:c.3066A>G NP_940978.2:p.Ser1022= NM_198576.3:c.3066A>G:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1046562 C A Variant 263179 RCV000245361 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1046833 G C Variant 128298 RCV000116260 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1046976 G A Variant 263180 RCV000253262 249329 AGRN NM_198576.3:c.3388+19G>A NM_198576.3:c.3388+19G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047342 A G Variant 128299 RCV000116261 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047403 T C Variant 128300 RCV000116262 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047464 G C Variant 128301 RCV000116263 133750 AGRN NM_198576.3:c.3516+10G>C NM_198576.3:c.3516+10G>C:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047561 T C Variant 263181 RCV000246305 249331 AGRN NM_198576.3:c.3517-12T>C NM_198576.3:c.3517-12T>C:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047614 T C Variant 128302 RCV000116264 133751 AGRN NM_198576.3:c.3558T>C NP_940978.2:p.Phe1186= NM_198576.3:c.3558T>C:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1047626 C T Variant 128303 RCV000116265 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047863 C T Variant 263182 RCV000247622 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1047876 C T Variant 210108 RCV000195120 206694 AGRN NM_198576.3:c.3732C>T NP_940978.2:p.His1244= NM_198576.3:c.3732C>T:synonymous variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1048006 C T Variant 210109 RCV000192787 206695 AGRN NM_198576.3:c.3752-6C>T NM_198576.3:c.3752-6C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 -1 1048126 C T Variant 128304 RCV000116266 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1048224 C T Variant 128305 RCV000116267 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1048232 G A Variant 128306 RCV000116268 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1048877 C T Variant 210110 RCV000193826 206696 AGRN NM_198576.3:c.4116C>T NP_940978.2:p.Ala1372= NM_198576.3:c.4116C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 -1 1048922 T C Variant 128307 RCV000116269 133756 AGRN NM_198576.3:c.4161T>C NP_940978.2:p.Thr1387= NM_198576.3:c.4161T>C:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1049046 C T Variant 263183 RCV000248636 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049070 A T Variant 263184 RCV000251783 249334 AGRN NM_198576.3:c.4298+11A>T NM_198576.3:c.4298+11A>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049289 C T Variant 263185 RCV000243502 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049389 C T Variant 128308 RCV000116270 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049467 G C Variant 263186 RCV000253016 249336 AGRN NM_198576.3:c.4514+16G>C NM_198576.3:c.4514+16G>C:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049569 G A Variant 263187 RCV000244907 249337 AGRN NM_198576.3:c.4518G>A NP_940978.2:p.Ala1506= NM_198576.3:c.4518G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049591 G A Variant 128309 RCV000116271 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049690 G A Variant 252808 RCV000238604 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 -1 1049791 C T Variant 128311 RCV000116273 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049886 C T Variant 263188 RCV000250964 249338 AGRN NM_198576.3:c.4745-17C>T NM_198576.3:c.4745-17C>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1049927 GCCCCTGCCAGCCCAA G Variant 291137 RCV000296346 275374 AGRN NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA NP_940978.2:p.Gln1593_Cys1597del NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1049997 C T Variant 263189 RCV000254107 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050027 C A Variant 282708 RCV000405008 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1050054 T A Variant 263190 RCV000245933 249340 AGRN NM_198576.3:c.4879+17T>A NM_198576.3:c.4879+17T>A:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050066 G T Variant 263191 RCV000250684 249341 AGRN NM_198576.3:c.4879+29G>T NM_198576.3:c.4879+29G>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050069 G A Variant 263192 RCV000242423 249342 AGRN NM_198576.3:c.4879+32G>A NM_198576.3:c.4879+32G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050417 A G Variant 263193 RCV000247197 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050446 G A Variant 128312 RCV000116274 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050473 G A Variant 243039 RCV000235025 244113 AGRN NM_198576.3:c.5023G>A NP_940978.2:p.Gly1675Ser NM_198576.3:c.5023G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1050475 C T Variant 263194 RCV000242085 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1050520 C T Variant 128313 RCV000116275 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1050575 G C Variant 18241 RCV000019902;RCV000235029 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 19631309;19631309,20301347 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590;GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1050763 G T Variant 126555 RCV000114427;RCV000235038 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 22205389;20301347,22205389 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590;GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1050785 G A Variant 263195 RCV000251658 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051336 C T Variant 263196 RCV000246601 249346 AGRN NM_198576.3:c.5337C>T NP_940978.2:p.Ala1779= NM_198576.3:c.5337C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051351 C T Variant 263197 RCV000252836 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051352 G A Variant 128314 RCV000116276;RCV000244639 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not provided;not specified;NOT SPECIFIED 18414213;25741868 germline MedGen:CN221809;MedGen:CN169374 -1 1051357 T C Variant 128315 RCV000116277 133764 AGRN NM_198576.3:c.5358T>C NP_940978.2:p.Gly1786= NM_198576.3:c.5358T>C:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051380 G A Variant 263198 RCV000254171 249348 AGRN NM_198576.3:c.5370+11G>A NM_198576.3:c.5370+11G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051762 C T Variant 128316 RCV000116278 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051775 G A Variant 243040 RCV000235024 244114 AGRN NM_198576.3:c.5611G>A NP_940978.2:p.Gly1871Arg NM_198576.3:c.5611G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 -1 1051811 G A Variant 263199 RCV000249073 249349 AGRN NM_198576.3:c.5647G>A NP_940978.2:p.Glu1883Lys NM_198576.3:c.5647G>A:missense variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1051820 C T Variant 128317 RCV000116279 133766 AGRN NM_198576.3:c.5651+5C>T NM_198576.3:c.5651+5C>T:intron variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1053827 G C Variant 128318 RCV000116280 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1054431 C A Variant 263200 RCV000250424 249351 AGRN NM_198576.3:c.5877-17C>A NM_198576.3:c.5877-17C>A:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1054897 G A Variant 263201 RCV000253570 249352 AGRN NM_198576.3:c.6054G>A NP_940978.2:p.Arg2018= NM_198576.3:c.6054G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1054900 C T Variant 128319 RCV000116281 133768 AGRN NM_198576.3:c.6057C>T NP_940978.2:p.Asp2019= NM_198576.3:c.6057C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 -1 1055000 C T Variant 263157 RCV000252490 249353 AGRN NM_198576.3:c.*19C>T NM_198576.3:c.*19C>T:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 1213738 G A Variant 96692 RCV000082860 102585 TNFRSF4 NM_003327.3:c.193C>T NP_003318.1:p.Arg65Cys NM_003327.3:c.193C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM IMMUNODEFICIENCY 16 (1 patient);IMMUNODEFICIENCY 16 (1 patient) 23897980 germline OMIM:600315.0001 -1 1232279 A G Variant 60484 RCV000054390 75079 B3GALT6 NM_080605.3:c.1A>G NP_542172.2:p.Met1Val NM_080605.3:c.1A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 -1 1232294 C T Variant 60493 RCV000054399 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 -1 1232300 T G Variant 193479 RCV000173551 190643 B3GALT6 NM_080605.3:c.22T>G NP_542172.2:p.Trp8Gly NM_080605.3:c.22T>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1232416 C T Variant 193478 RCV000173550 190642 B3GALT6 NM_080605.3:c.138C>T NP_542172.2:p.Ser46= NM_080605.3:c.138C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1232458 A G Variant 288791 RCV000380808 273028 B3GALT6 NM_080605.3:c.180A>G NP_542172.2:p.Ala60= NM_080605.3:c.180A>G:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1232471 A G Variant 60488 RCV000054394 75083 B3GALT6 NM_080605.3:c.193A>G NP_542172.2:p.Ser65Gly NM_080605.3:c.193A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 -1 1232478 C T Variant 60489 RCV000054395 75084 B3GALT6 NM_080605.3:c.200C>T NP_542172.2:p.Pro67Leu NM_080605.3:c.200C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 -1 1232630 GA G Variant 60490 RCV000054396 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 -1 1232684 GTGCTGGCCA G Variant 60494 RCV000054400 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 -1 1232744 G A Variant 60486 RCV000054392 75081 B3GALT6 NM_080605.3:c.466G>A NP_542172.2:p.Asp156Asn NM_080605.3:c.466G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 -1 1232793 C T Variant 373234 RCV000413594 359211 B3GALT6 NM_080605.3:c.515C>T NP_542172.2:p.Ala172Val NM_080605.3:c.515C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 1232800 G C Variant 281204 RCV000287240 265441 B3GALT6 NM_080605.3:c.522G>C NP_542172.2:p.Glu174Asp NM_080605.3:c.522G>C:missense variant Benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1232859 CG C Variant 60492 RCV000054398 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 -1 1232865 G T Variant 281706 RCV000408441 265943 B3GALT6 NM_080605.3:c.587G>T NP_542172.2:p.Gly196Val NM_080605.3:c.587G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1232897 G C Variant 60495 RCV000054401 75090 B3GALT6 NM_080605.3:c.619G>C NP_542172.2:p.Asp207His NM_080605.3:c.619G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 -1 1232927 G A Variant 60496 RCV000054402 75091 B3GALT6 NM_080605.3:c.649G>A NP_542172.2:p.Gly217Ser NM_080605.3:c.649G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 -1 1232972 C T Variant 60485 RCV000054391 75080 B3GALT6 NM_080605.3:c.694C>T NP_542172.2:p.Arg232Cys NM_080605.3:c.694C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 -1 1232977 C T Variant 290128 RCV000295132 274365 B3GALT6 NM_080605.3:c.699C>T NP_542172.2:p.Asp233= NM_080605.3:c.699C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1233031 G A Variant 283369 RCV000266846 267606 B3GALT6 NM_080605.3:c.753G>A NP_542172.2:p.Pro251= NM_080605.3:c.753G>A:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1233112 G A Variant 283589 RCV000389593 267826 B3GALT6 NM_080605.3:c.834G>A NP_542172.2:p.Thr278= NM_080605.3:c.834G>A:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1233131 G A Variant 283597 RCV000360273 267834 B3GALT6 NM_080605.3:c.853G>A NP_542172.2:p.Asp285Asn NM_080605.3:c.853G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1233177 G C Variant 60487 RCV000054393 75082 B3GALT6 NM_080605.3:c.899G>C NP_542172.2:p.Cys300Ser NM_080605.3:c.899G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 -1 1233187 G A Variant 193477 RCV000173549 190641 B3GALT6 NM_080605.3:c.909G>A NP_542172.2:p.Glu303= NM_080605.3:c.909G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 1233203 T A Variant 60491 RCV000054397 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 -1 1338000 CT C Variant 208047 RCV000193819 204306 DVL1 NM_004421.2:c.1615delA NP_004412.2:p.Ser539Alafs NM_004421.2:c.1615delA:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338033 TAGGCAGG C Variant 208050 RCV000194315 204307 DVL1 NM_004421.2:c.1576_1583delCCTGCCTAinsG NP_004412.2:p.Pro526Alafs NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 22431878,25817014 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338045 AA G Variant 208043 RCV000192810 204308 DVL1 NM_004421.2:c.1570_1571delTTinsC NP_004412.2:p.Phe524Profs NM_004421.2:c.1570_1571delTTinsC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 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 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338053 TG T Variant 208049 RCV000193267 204309 DVL1 NM_004421.2:c.1562delC NP_004412.2:p.Pro521Hisfs NM_004421.2:c.1562delC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 25045061,25817014 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338086 AC A Variant 208048 RCV000195217 204310 DVL1 NM_004421.2:c.1529delG NP_004412.2:p.Gly510Valfs NM_004421.2:c.1529delG:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086,24088041,25817016 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338092 AG A Variant 219223 RCV000208706 217239 DVL1 NM_004421.2:c.1522delC NP_004412.2:p.Pro508Leufs NM_004421.2:c.1522delC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 23806086,24088041,26924530 Infancy <1 / 1 000 000 de novo Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338096 CA C Variant 208045 RCV000195250 204311 DVL1 NM_004421.2:c.1519delT NP_004412.2:p.Trp507Glyfs NM_004421.2:c.1519delT:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 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 23806086,24088041,25045061,25817014,25817016 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338098 GGGGGCAGCCGGGT G Variant 208044 RCV000193850 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 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 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338107 CG C Variant 208046 RCV000192930 204313 DVL1 NM_004421.2:c.1508delC NP_004412.2:p.Pro503Argfs NM_004421.2:c.1508delC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 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 10319206,23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 -1 1338529 G GGCATTGGC Variant 373812 RCV000413003 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 GeneDx not provided;Not Provided germline MedGen:CN221809 -1 1512426 C T Variant 225697 RCV000412620 227512 ATAD3A NM_001170535.1:c.158C>T NP_001164006.1:p.Thr53Ile NM_001170535.1:c.158C>T:missense variant;NM_001170536.1:c.-297C>T:2KB upstream variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM HAREL-YOON SYNDROME;HAREL-YOON SYNDROME, AUTOSOMAL RECESSIVE 27640307 germline MedGen:CN239114;OMIM:612316.0001;OMIM:617183 -1 1529299 C T Variant 225696 RCV000412539 227511 ATAD3A NM_001170535.1:c.1582C>T NP_001164006.1:p.Arg528Trp NM_001170535.1:c.1582C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine HAREL-YOON SYNDROME;HAREL-YOON SYNDROME 27640307 de novo;unknown MedGen:CN239114;OMIM:612316.0001;OMIM:617183 -1 1535370 G A Variant 161196 RCV000148348 171043 TMEM240 NM_001114748.1:c.511C>T NP_001108220.1:p.Arg171Trp NM_001114748.1:c.511C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 -1 1535372 G A Variant 161192 RCV000148344;RCV000322616 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM;GeneDx Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21;not provided;Not Provided 11160961,20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773;MedGen:CN221809 -1 1535392 G C Variant 161193 RCV000148345 171040 TMEM240 NM_001114748.1:c.489C>G NP_001108220.1:p.Tyr163Ter NM_001114748.1:c.489C>G:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 -1 1535589 C T Variant 373233 RCV000413204 359223 TMEM240 NM_001114748.1:c.373G>A NP_001108220.1:p.Asp125Asn NM_001114748.1:c.373G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 1535616 G A Variant 161194 RCV000148346 171041 TMEM240 NM_001114748.1:c.346C>T NP_001108220.1:p.Arg116Cys NM_001114748.1:c.346C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 -1 1535723 G A Variant 161195 RCV000148347 171042 TMEM240 NM_001114748.1:c.239C>T NP_001108220.1:p.Thr80Met NM_001114748.1:c.239C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 -1 1535766 C T Variant 372833 RCV000413958 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 GeneDx not provided;Not Provided germline MedGen:CN221809 -1 1615612 C A Variant 218832 RCV000202894 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 0 1 0 criteria provided, single submitter 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 -1 1787378 C T Variant 224718 RCV000210260 226495 GNB1 NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr NM_002074.4:c.976G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Muscular hypotonia 21956720 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:C1843367;MedGen:C1959629;MedGen:CN001147;MedGen:CN001157;MedGen:CN001871 -1 1804548 T C Variant 224717 RCV000210283;RCV000225171 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM 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 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:C1836830;MedGen:C1843367;MedGen:C1847610;MedGen:C1959629;MedGen:CN001147;MedGen:CN001157;MedGen:CN001871;MedGen:CN002165;MedGen:CN116575;MedGen:CN166927;MedGen:CN236792;OMIM:616973 -1 1804565 A G Variant 224716 RCV000210270 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 1 0 0 no assertion criteria provided 0 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 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:C0038379;MedGen:C0231246;MedGen:C0232466;MedGen:C0560046;MedGen:C1838391;MedGen:C1843367;MedGen:C1847610;MedGen:C1959629;MedGen:C1963184;MedGen:CN001147;MedGen:CN001157;MedGen:CN001379;MedGen:CN116575;MedGen:CN117595 -1 1806503 A G Variant 208722 RCV000190738;RCV000208571;RCV000210259;RCV000225179;RCV000225295 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;Uncertain significance 1 0 0 criteria provided, conflicting interpretations 1 Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM 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 22947299,23037933,23169492,23619275,23652378,23881473,24022298,24121147,24394680,25356970,25560141,25626707,25730230;20301334,21956720,25485910;21956720;25485910,27108799 Autosomal dominant inheritance;Somatic mutation All ages 1-9 / 100 000 germline;de novo;unknown;somatic MeSH:D030342;MedGen:C0950123;GeneReviews:NBK1155;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:C0393593;MedGen:C1843367;MedGen:C1970931;MedGen:C2750951;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:C0038379;MedGen:C0231246;MedGen:C0560046;MedGen:C1836830;MedGen:C1838391;MedGen:C1847610;MedGen:C1959629;MedGen:C1963184;MedGen:CN001147;MedGen:CN001157;MedGen:CN116575;MedGen:CN166927;MedGen:CN236792;OMIM:616973;Genetic Alliance:Myelodysplastic+syndromes/5021;Genetic Testing Registry (GTR):GTR000501848;Genetic Testing Registry (GTR):GTR000508338;Genetic Testing Registry (GTR):GTR000518980;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520187;Genetic Testing Registry (GTR):GTR000520395;Genetic Testing Registry (GTR):GTR000521830;Genetic Testing Registry (GTR):GTR000525847;Genetic Testing Registry (GTR):GTR000525900;Genetic Testing Registry (GTR):GTR000525905;Genetic Testing Registry (GTR):GTR000527980;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000529055;Genetic Testing Registry (GTR):GTR000529137;Genetic Testing Registry (GTR):GTR000530327;Genetic Testing Registry (GTR):GTR000530631;Genetic Testing Registry (GTR):GTR000531723;Genetic Testing Registry (GTR):GTR000531726;Genetic Testing Registry (GTR):GTR000552115;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688 -1 1806503 A T Variant 224715 RCV000210280;RCV000225195;RCV000225283 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 1 0 0 no assertion criteria provided 0 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;25485910,27108799 All ages 1-9 / 100 000 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:C0231246;MedGen:C0232466;MedGen:C1838391;MedGen:C1959629;MedGen:CN001147;MedGen:CN001157;MedGen:CN001379;MedGen:CN002165;MedGen:CN007871;MedGen:CN116575;MedGen:CN117595;MedGen:CN236792;OMIM:616973;Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 -1 1806509 T C Variant 224714 RCV000210269;RCV000225134 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 1 0 0 no assertion criteria provided 0 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:C0038379;MedGen:C0232466;MedGen:C1959629;MedGen:CN001147;MedGen:CN001157;MedGen:CN001379;MedGen:CN007871;MedGen:CN166927;MedGen:CN236792;OMIM:616973 -1 1806513 C T Variant 224713 RCV000210256 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 1 0 0 no assertion criteria provided 0 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Global developmental delay;Muscular hypotonia 21956720 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:CN001147;MedGen:CN001157 -1 1806514 A C Variant 224712 RCV000210277 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 1 0 0 no assertion criteria provided 0 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 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:C0038379;MedGen:C0231246;MedGen:C1838391;MedGen:C1959629;MedGen:CN001157;MedGen:CN002165 -1 1806515 T C Variant 224711 RCV000210265;RCV000225254;RCV000225357 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 1 0 0 no assertion criteria provided 0 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;25485910,27108799 All ages 1-9 / 100 000 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:CN001147;MedGen:CN001157;MedGen:CN007871;MedGen:CN236792;OMIM:616973;Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 -1 2024923 G A Variant 256824 RCV000245842 249668 GABRD NM_000815.4:c.69-19G>A NM_000815.4:c.69-19G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2025020 C T Variant 374418 RCV000416042 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809 -1 2025598 T C Variant 256823 RCV000254456 249669 GABRD NM_000815.4:c.330T>C NP_000806.2:p.Gly110= NM_000815.4:c.330T>C:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2027636 A C Variant 16212 RCV000017598 31251 GABRD NM_000815.4:c.530A>C NP_000806.2:p.Glu177Ala NM_000815.4:c.530A>C:missense variant risk factor 0 0 0 no assertion criteria provided 0 OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO 15115768 germline MedGen:C3150401;OMIM:613060 -1 2028260 G A Variant 16213 RCV000017599;RCV000017600;RCV000022558 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor 0 0 0 no assertion criteria provided 0 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 MedGen:C3150401;OMIM:613060;MedGen:C2751604;OMIM:137163.0002;Genetic Alliance:Epilepsy%2C+idiopathic+generalized+10/8327;MedGen:C2751603 -1 2028269 C T Variant 218470 RCV000203171 215187 GABRD NM_000815.4:c.668C>T NP_000806.2:p.Thr223Met NM_000815.4:c.668C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 -1 2029194 G A Variant 235308 RCV000224860 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 -1 2029235 C T Variant 256825 RCV000248963 249670 GABRD NM_000815.4:c.816C>T NP_000806.2:p.Ser272= NM_000815.4:c.816C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2029969 C T Variant 256822 RCV000249647 249671 GABRD NM_000815.4:c.1060-14C>T NM_000815.4:c.1060-14C>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2030031 G A Variant 375540 RCV000417018 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Neurogenetics Laboratory - MEYER,AOU Meyer Epileptic encephalopathy 25741868 unknown Human Phenotype Ontology:HP:0200134;MedGen:C0543888;MedGen:CN176791 -1 2228828 T G Variant 224869 RCV000210450 226716 SKI NM_003036.3:c.62T>G NP_003027.1:p.Leu21Arg NM_003036.3:c.62T>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454,23023332 Infancy <1 / 1 000 000 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 -1 2228860 C G Variant 37259 RCV000030817 45849 SKI NM_003036.3:c.94C>G NP_003027.1:p.Leu32Val NM_003036.3:c.94C>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230,24736733 Infancy <1 / 1 000 000 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 -1 2228865 C G Variant 139112 RCV000173298;RCV000226611 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Emory Genetics Laboratory,Emory University;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,PreventionGenetics;Invitae not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 24033266,25741868;20301454 Infancy <1 / 1 000 000 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 -1 2228866 G A Variant 37261 RCV000030819;RCV000200686 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 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 Infancy <1 / 1 000 000 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 -1 2228866 G T Variant 37262 RCV000030820;RCV000197434 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME;not provided 20301454,23023332,23103230 Infancy <1 / 1 000 000 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 -1 2228867 G A Variant 37260 RCV000030818 45850 SKI NM_003036.3:c.101G>A NP_003027.1:p.Gly34Asp NM_003036.3:c.101G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,24736733 Infancy <1 / 1 000 000 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 -1 2228867 G T Variant 39783 RCV000033005 48382 SKI NM_003036.3:c.101G>T NP_003027.1:p.Gly34Val NM_003036.3:c.101G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230,24736733 Infancy <1 / 1 000 000 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 -1 2228869 C T Variant 39786 RCV000033008 48385 SKI NM_003036.3:c.103C>T NP_003027.1:p.Pro35Ser NM_003036.3:c.103C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230,24736733 Infancy <1 / 1 000 000 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 -1 2228870 C A Variant 39785 RCV000033007 48384 SKI NM_003036.3:c.104C>A NP_003027.1:p.Pro35Gln NM_003036.3:c.104C>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2228904 C T Variant 213665 RCV000198300 209445 SKI NM_003036.3:c.138C>T NP_003027.1:p.Ala46= NM_003036.3:c.138C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2228951 C G Variant 139113 RCV000128047 142816 SKI NM_003036.3:c.185C>G NP_003027.1:p.Ala62Gly NM_003036.3:c.185C>G:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,PreventionGenetics not specified;not specified;Not specified;NOT SPECIFIED 24033266,25741868 germline MedGen:CN169374 -1 2228982 C T Variant 193249 RCV000204079;RCV000225703;RCV000242995 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Invitae;Emory Genetics Laboratory,Emory University;GeneDx;PreventionGenetics,PreventionGenetics;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 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2229005 A AGCC Variant 264471 RCV000250462 257939 SKI NM_003036.3:c.249_251dupGCC NP_003027.1:p.Pro84_Val85insPro NM_003036.3:c.249_251dupGCC:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 2229045 GTCCGACCGC G Variant 37263 RCV000030821 45853 SKI NM_003036.3:c.283_291delGACCGCTCC NP_003027.1:p.Asp95_Ser97del NM_003036.3:c.283_291delGACCGCTCC:inframe_variant Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332 Infancy <1 / 1 000 000 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 -1 2229045 GTCCGACCGCTCC G Variant 39784 RCV000033006 48383 SKI NM_003036.3:c.280_291delTCCGACCGCTCC NP_003027.1:p.Ser94_Ser97del NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2229060 C T Variant 213681 RCV000198732;RCV000254475 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;PreventionGenetics,PreventionGenetics;Ambry Genetics not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;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 -1 2229077 T C Variant 264417 RCV000246817 257941 SKI NM_003036.3:c.311T>C NP_003027.1:p.Val104Ala NM_003036.3:c.311T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2229078 A T Variant 227947 RCV000215560 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 2229113 G A Variant 37258 RCV000030816 45848 SKI NM_003036.3:c.347G>A NP_003027.1:p.Gly116Glu NM_003036.3:c.347G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332 Infancy <1 / 1 000 000 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 -1 2229115 G C Variant 224868 RCV000210472 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454,23023332 Infancy <1 / 1 000 000 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 -1 2229118 G A Variant 222819 RCV000208203 224190 SKI NM_003036.3:c.352G>A NP_003027.1:p.Glu118Lys NM_003036.3:c.352G>A:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 Blueprint Genetics Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2229126 C T Variant 213682 RCV000200253 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2229159 G A Variant 264423 RCV000254423 257943 SKI NM_003036.3:c.393G>A NP_003027.1:p.Leu131= NM_003036.3:c.393G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2229183 C T Variant 213683 RCV000196335;RCV000234780 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;PreventionGenetics,PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 Infancy <1 / 1 000 000 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 -1 2229222 C T Variant 139111 RCV000128045;RCV000228536;RCV000245385 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;PreventionGenetics,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 Infancy <1 / 1 000 000 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 -1 2229230 C G Variant 373594 RCV000413541 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2229237 G A Variant 239478 RCV000232451;RCV000247169 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Invitae;PreventionGenetics,PreventionGenetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED 20301454;25741868 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-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 -1 2229253 G A Variant 239479 RCV000234052 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2229261 C T Variant 258901 RCV000250311 249732 SKI NM_003036.3:c.495C>T NP_003027.1:p.Gly165= NM_003036.3:c.495C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2229265 CT GG Variant 213703 RCV000200337 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 GeneDx not provided;Not Provided germline MedGen:CN221809 -1 2229305 C T Variant 213684 RCV000198523 209451 SKI NM_003036.3:c.539C>T NP_003027.1:p.Thr180Met NM_003036.3:c.539C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2229391 C A Variant 264172 RCV000242214 257942 SKI NM_003036.3:c.625C>A NP_003027.1:p.Leu209Met NM_003036.3:c.625C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2229406 A G Variant 213685 RCV000200824 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2229564 C T Variant 193248 RCV000225717;RCV000243648 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Emory Genetics Laboratory,Emory University;GeneDx;PreventionGenetics,PreventionGenetics;Ambry Genetics not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2229565 C T Variant 213663 RCV000200723;RCV000228953 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 -1 2229610 C A Variant 264492 RCV000251439 257944 SKI NM_003036.3:c.844C>A NP_003027.1:p.Arg282= NM_003036.3:c.844C>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2229685 G A Variant 213686 RCV000196881 209454 SKI NM_003036.3:c.919G>A NP_003027.1:p.Val307Met NM_003036.3:c.919G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2229704 A G Variant 213687 RCV000199076 209455 SKI NM_003036.3:c.938A>G NP_003027.1:p.Tyr313Cys NM_003036.3:c.938A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2229714 G A Variant 213664 RCV000196098;RCV000231718 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 -1 2229730 C T Variant 264199 RCV000252076 257945 SKI NM_003036.3:c.964C>T NP_003027.1:p.Pro322Ser NM_003036.3:c.964C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2302971 A G Variant 289941 RCV000284270 274178 SKI NM_003036.3:c.970-7A>G NM_003036.3:c.970-7A>G:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2303008 C T Variant 213688 RCV000198950 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303041 G A Variant 213666 RCV000200606 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303078 G A Variant 213689 RCV000195711 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303089 G A Variant 222820 RCV000208423 224191 SKI NM_003036.3:c.1081G>A NP_003027.1:p.Gly361Ser NM_003036.3:c.1081G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 Blueprint Genetics not specified;not specified germline MedGen:CN169374 -1 2303101 A G Variant 213706 RCV000200205 209460 SKI NM_003036.3:c.1093A>G NP_003027.1:p.Lys365Glu NM_003036.3:c.1093A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303328 G A Variant 213690 RCV000197996 209461 SKI NM_003036.3:c.1139G>A NP_003027.1:p.Arg380Gln NM_003036.3:c.1139G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303351 G A Variant 213667 RCV000197343 209462 SKI NM_003036.3:c.1162G>A NP_003027.1:p.Ala388Thr NM_003036.3:c.1162G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303352 C T Variant 213668 RCV000198871;RCV000204037 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;PreventionGenetics,PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 Infancy <1 / 1 000 000 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 -1 2303372 C T Variant 213691 RCV000198841 209464 SKI NM_003036.3:c.1183C>T NP_003027.1:p.Pro395Ser NM_003036.3:c.1183C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303385 C T Variant 213692 RCV000195594;RCV000227742 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 GeneDx;PreventionGenetics,PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 Infancy <1 / 1 000 000 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 -1 2303410 C T Variant 213669 RCV000200400 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303411 G A Variant 213670 RCV000197227 209467 SKI NM_003036.3:c.1211+11G>A NM_003036.3:c.1211+11G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303417 C T Variant 258899 RCV000248676 249763 SKI NM_003036.3:c.1211+17C>T NM_003036.3:c.1211+17C>T:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2303419 C T Variant 258900 RCV000251824 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2303832 C T Variant 213671 RCV000199440;RCV000415889 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 GeneDx;PreventionGenetics,PreventionGenetics;Praxis fuer Humangenetik Tuebingen, not specified;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 -1 2303871 G A Variant 222821 RCV000208100 224192 SKI NM_003036.3:c.1243G>A NP_003027.1:p.Val415Met NM_003036.3:c.1243G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 -1 2303875 C T Variant 213693 RCV000197794 209469 SKI NM_003036.3:c.1247C>T NP_003027.1:p.Ala416Val NM_003036.3:c.1247C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303886 G A Variant 220793 RCV000205977 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2303891 C T Variant 263904 RCV000252813 257947 SKI NM_003036.3:c.1263C>T NP_003027.1:p.Leu421= NM_003036.3:c.1263C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2303892 G A Variant 213707 RCV000196970 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303929 C T Variant 213694 RCV000200090 209471 SKI NM_003036.3:c.1301C>T NP_003027.1:p.Pro434Leu NM_003036.3:c.1301C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2303937 G A Variant 263895 RCV000251995 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 -1 2303939 C G Variant 227946 RCV000221218 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 2303939 C T Variant 139114 RCV000128048;RCV000229389;RCV000249261 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University;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 Infancy <1 / 1 000 000 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 -1 2303966 C T Variant 213672 RCV000195511 209472 SKI NM_003036.3:c.1338C>T NP_003027.1:p.Leu446= NM_003036.3:c.1338C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304038 C T Variant 213673 RCV000197717 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304048 C G Variant 373583 RCV000413715 359238 SKI NM_003036.3:c.1420C>G NP_003027.1:p.Pro474Ala NM_003036.3:c.1420C>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304074 G A Variant 139115 RCV000178187;RCV000233299;RCV000249175 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Emory Genetics Laboratory,Emory University;PreventionGenetics,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 Infancy <1 / 1 000 000 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 -1 2304084 G A Variant 229252 RCV000218491 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 2304298 T A Variant 373745 RCV000414146 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304345 C T Variant 213674 RCV000199331;RCV000245139 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;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 -1 2304346 G A Variant 213695 RCV000195482 209475 SKI NM_003036.3:c.1528G>A NP_003027.1:p.Ala510Thr NM_003036.3:c.1528G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304373 C T Variant 213696 RCV000197672 209476 SKI NM_003036.3:c.1555C>T NP_003027.1:p.Arg519Cys NM_003036.3:c.1555C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304374 G A Variant 213675 RCV000196080 209477 SKI NM_003036.3:c.1556G>A NP_003027.1:p.Arg519His NM_003036.3:c.1556G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304386 C T Variant 180522 RCV000157499 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Uncertain significance 0 0 0 no assertion criteria provided 0 Blueprint Genetics Arterial dissection;Arterial dissection germline Human Phenotype Ontology:HP:0005294;MedGen:CN004695 -1 2304391 G A Variant 213676 RCV000197599 209478 SKI NM_003036.3:c.1573G>A NP_003027.1:p.Val525Ile NM_003036.3:c.1573G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304398 ATGC A Variant 213704 RCV000197075 209479 SKI NM_003036.3:c.1584_1586delTGC NP_003027.1:p.Ala530del NM_003036.3:c.1584_1586delTGC:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304411 T C Variant 213677 RCV000199803 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2304437 C T Variant 213697 RCV000199881 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304450 C T Variant 213678 RCV000196639 209482 SKI NM_003036.3:c.1632C>T NP_003027.1:p.His544= NM_003036.3:c.1632C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2304591 C T Variant 239476 RCV000227068 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2306080 C A Variant 213708 RCV000199152 209483 SKI NM_003036.3:c.1828C>A NP_003027.1:p.Arg610Ser NM_003036.3:c.1828C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306086 C T Variant 139116 RCV000179418;RCV000230962;RCV000243796 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Emory Genetics Laboratory,Emory University;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,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 Infancy <1 / 1 000 000 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 -1 2306103 G A Variant 198156 RCV000179419 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2306122 GAGA G Variant 213705 RCV000198612 209485 SKI NM_003036.3:c.1877_1879delAGA NP_003027.1:p.Lys626del NM_003036.3:c.1877_1879delAGA:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306129 A T Variant 213698 RCV000196715 209484 SKI NM_003036.3:c.1877A>T NP_003027.1:p.Lys626Met NM_003036.3:c.1877A>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306142 C T Variant 198155 RCV000246302 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2306223 C T Variant 239477 RCV000233767 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 -1 2306226 C T Variant 139117 RCV000179417;RCV000227524 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 Infancy <1 / 1 000 000 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 -1 2306585 C G Variant 213699 RCV000198240;RCV000230294;RCV000243311 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 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 Infancy <1 / 1 000 000 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 -1 2306634 G A Variant 213709 RCV000195941 209487 SKI NM_003036.3:c.2056G>A NP_003027.1:p.Ala686Thr NM_003036.3:c.2056G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306706 T C Variant 213710 RCV000196830 209488 SKI NM_003036.3:c.2128T>C NP_003027.1:p.Trp710Arg NM_003036.3:c.2128T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306719 G A Variant 213679 RCV000197481 209489 SKI NM_003036.3:c.2141G>A NP_003027.1:p.Arg714His NM_003036.3:c.2141G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306731 C G Variant 213680 RCV000199684 209490 SKI NM_003036.3:c.2153C>G NP_003027.1:p.Ala718Gly NM_003036.3:c.2153C>G:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306752 A C Variant 213700 RCV000199766 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306761 C T Variant 213701 RCV000196525 209492 SKI NM_003036.3:c.2183C>T NP_003027.1:p.Pro728Leu NM_003036.3:c.2183C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 2306765 GATT G Variant 222822 RCV000208246 224193 SKI NM_003036.3:c.*1_*3delATT NM_003036.3:c.*1_*3delATT:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 -1 2404912 C T Variant 296252 RCV000386642 281775 PEX10 NM_153818.1:c.*854G>A NM_153818.1:c.*854G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2404928 G A Variant 296253 RCV000292328 280463 PEX10 NM_153818.1:c.*838C>T NM_153818.1:c.*838C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2404931 G A Variant 296254 RCV000347311 280132 PEX10 NM_153818.1:c.*835C>T NM_153818.1:c.*835C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2404968 G A Variant 296255 RCV000399261 280466 PEX10 NM_153818.1:c.*798C>T NM_153818.1:c.*798C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2404984 G T Variant 296256 RCV000289447 280467 PEX10 NM_153818.1:c.*782C>A NM_153818.1:c.*782C>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405021 G GC Variant 296257 RCV000344391 280468 PEX10 NM_153818.1:c.*744dupG NM_153818.1:c.*744dupG:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405034 C T Variant 296258 RCV000393898 280469 PEX10 NM_153818.1:c.*732G>A NM_153818.1:c.*732G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405078 C A Variant 296259 RCV000304680 280133 PEX10 NM_153818.1:c.*688G>T NM_153818.1:c.*688G>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405139 G A Variant 296260 RCV000359322 280471 PEX10 NM_153818.1:c.*627C>T NM_153818.1:c.*627C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405172 G A Variant 296261 RCV000391549 280134 PEX10 NM_153818.1:c.*594C>T NM_153818.1:c.*594C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405267 C T Variant 296262 RCV000301075 281924 PEX10 NM_153818.1:c.*499G>A NM_153818.1:c.*499G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405346 C T Variant 296263 RCV000355852 281926 PEX10 NM_153818.1:c.*420G>A NM_153818.1:c.*420G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405356 C T Variant 296264 RCV000261428 281776 PEX10 NM_153818.1:c.*410G>A NM_153818.1:c.*410G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405414 C T Variant 296265 RCV000316672 280473 PEX10 NM_153818.1:c.*352G>A NM_153818.1:c.*352G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405456 C T Variant 296266 RCV000371318 281778 PEX10 NM_153818.1:c.*310G>A NM_153818.1:c.*310G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405462 G A Variant 296267 RCV000276599 281935 PEX10 NM_153818.1:c.*304C>T NM_153818.1:c.*304C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405593 C T Variant 296268 RCV000331913 280474 PEX10 NM_153818.1:c.*173G>A NM_153818.1:c.*173G>A:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405675 T C Variant 296269 RCV000386410 281936 PEX10 NM_153818.1:c.*91A>G NM_153818.1:c.*91A>G:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405750 C T Variant 296270 RCV000292051 281780 PEX10 NM_153818.1:c.*16G>A NM_153818.1:c.*16G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405755 C T Variant 262787 RCV000245274;RCV000328360 249840 PEX10 NM_153818.1:c.*11G>A NM_153818.1:c.*11G>A:3 prime UTR variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405756 G A Variant 296271 RCV000380777 280479 PEX10 NM_153818.1:c.*10C>T NM_153818.1:c.*10C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405770 C T Variant 296272 RCV000286286 281940 PEX10 NM_153818.1:c.1037G>A NP_722540.1:p.Arg346His NM_153818.1:c.1037G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2405813 C T Variant 288707 RCV000358263 272944 PEX10 NM_153818.1:c.994G>A NP_722540.1:p.Glu332Lys NM_153818.1:c.994G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2405815 C T Variant 162433 RCV000149811 172124 PEX10 NM_153818.1:c.992G>A NP_722540.1:p.Arg331Gln NM_153818.1:c.992G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 -1 2405832 C T Variant 286858 RCV000393024 271095 PEX10 NM_153818.1:c.975G>A NP_722540.1:p.Ala325= NM_153818.1:c.975G>A:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2405838 C T Variant 262791 RCV000251204;RCV000341363 249841 PEX10 NM_153818.1:c.973-4G>A NM_153818.1:c.973-4G>A:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2406500 G A Variant 283862 RCV000398333;RCV000403122 268099 PEX10 NM_153818.1:c.956C>T NP_722540.1:p.Ala319Val NM_153818.1:c.956C>T:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Zellweger syndrome;Zellweger Syndrome;not specified 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN169374 -1 2406526 G C Variant 6771 RCV000007173 21810 PEX10 NM_153818.1:c.930C>G NP_722540.1:p.His310Gln NM_153818.1:c.930C>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 9683594 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 -1 2406527 T TC Variant 197886 RCV000179026 195047 PEX10 NM_153818.1:c.927_928insG NP_722540.1:p.His310Alafs NM_153818.1:c.927_928insG:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University Peroxisome biogenesis disorder 6A Neonatal germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 -1 2406553 C T Variant 262790 RCV000247875;RCV000282889 249842 PEX10 NM_153818.1:c.903G>A NP_722540.1:p.Arg301= NM_153818.1:c.903G>A:synonymous variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2406558 G A Variant 286808 RCV000407787 271045 PEX10 NM_153818.1:c.898C>T NP_722540.1:p.Arg300Cys NM_153818.1:c.898C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2406561 C A Variant 282334 RCV000289565 266571 PEX10 NM_153818.1:c.895G>T NP_722540.1:p.Glu299Ter NM_153818.1:c.895G>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University Peroxisome biogenesis disorder 6A Neonatal germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 -1 2406566 A G Variant 162432 RCV000149810 172123 PEX10 NM_153818.1:c.890T>C NP_722540.1:p.Leu297Pro NM_153818.1:c.890T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411,6 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 -1 2406576 T C Variant 197887 RCV000179027 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 2406580 C A Variant 289743 RCV000264178 273980 PEX10 NM_153818.1:c.876G>T NP_722540.1:p.Leu292= NM_153818.1:c.876G>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2406580 CAG C Variant 296273 RCV000337969;RCV000409050;RCV000411962 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 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;12794690 Autosomal recessive inheritance Neonatal 1-9 / 100 000 germline;unknown GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;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 -1 2406584 G A Variant 289191 RCV000281616 273428 PEX10 NM_153818.1:c.872C>T NP_722540.1:p.Pro291Leu NM_153818.1:c.872C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2406585 G T Variant 286993 RCV000388149 271230 PEX10 NM_153818.1:c.871C>A NP_722540.1:p.Pro291Thr NM_153818.1:c.871C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2406712 G A Variant 296274 RCV000400274 280483 PEX10 NM_153818.1:c.836+8C>T NM_153818.1:c.836+8C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2406719 C G Variant 225040 RCV000210672 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic 1 0 0 criteria provided, single submitter 1 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 -1 2406723 C T Variant 290110 RCV000268088 274347 PEX10 NM_153818.1:c.833G>A NP_722540.1:p.Arg278His NM_153818.1:c.833G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2406736 C T Variant 296275 RCV000297739 281804 PEX10 NM_153818.1:c.820G>A NP_722540.1:p.Gly274Ser NM_153818.1:c.820G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2406766 G A Variant 162435 RCV000149813 172126 PEX10 NM_153818.1:c.790C>T NP_722540.1:p.Arg264Ter NM_153818.1:c.790C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 -1 2406784 C G Variant 197385 RCV000178398 194546 PEX10 NM_153818.1:c.772G>C NP_722540.1:p.Gly258Arg NM_153818.1:c.772G>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2406785 G A Variant 296276 RCV000354897 280485 PEX10 NM_153818.1:c.771C>T NP_722540.1:p.Tyr257= NM_153818.1:c.771C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2406791 C CT Variant 6774 RCV000007176;RCV000149808;RCV000324305 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts 2 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 Neonatal 1-9 / 100 000 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 -1 2406811 C G Variant 296277 RCV000408360 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2406855 C T Variant 291156 RCV000343088 275393 PEX10 NM_153818.1:c.701G>A NP_722540.1:p.Arg234His NM_153818.1:c.701G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2406885 C T Variant 197386 RCV000178399;RCV000315166 194547 PEX10 NM_153818.1:c.671G>A NP_722540.1:p.Arg224His NM_153818.1:c.671G>A:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2406970 C T Variant 296278 RCV000367525 281805 PEX10 NM_153818.1:c.601-15G>A NM_153818.1:c.601-15G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408451 C T Variant 6770 RCV000007172 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 9683594 Neonatal germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 -1 2408497 G A Variant 296279 RCV000275159 281806 PEX10 NM_153818.1:c.555C>T NP_722540.1:p.His185= NM_153818.1:c.555C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408557 G A Variant 196588 RCV000177416 193749 PEX10 NM_153818.1:c.495C>T NP_722540.1:p.Phe165= NM_153818.1:c.495C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2408606 G A Variant 289259 RCV000378264 273496 PEX10 NM_153818.1:c.446C>T NP_722540.1:p.Thr149Met NM_153818.1:c.446C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2408634 C G Variant 296280 RCV000309150 281810 PEX10 NM_153818.1:c.418G>C NP_722540.1:p.Gly140Arg NM_153818.1:c.418G>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408679 G A Variant 6772 RCV000007174 21811 PEX10 NM_153818.1:c.373C>T NP_722540.1:p.Arg125Ter NM_153818.1:c.373C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 9683594 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 -1 2408700 G A Variant 371748 RCV000410037;RCV000411504 357074 PEX10 NM_153818.1:c.352C>T NP_722540.1:p.Gln118Ter NM_153818.1:c.352C>T:nonsense Likely pathogenic 1 0 0 criteria provided, single submitter 1 Counsyl Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B 10862081,21031596,25525159 Neonatal 1-9 / 100 000 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 -1 2408713 CA C Variant 235465 RCV000224922 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 -1 2408714 AG A Variant 162431 RCV000149809 172122 PEX10 NM_153818.1:c.337delC NP_722540.1:p.Leu113Trpfs NM_153818.1:c.337delC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411,8982949 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 -1 2408719 G A Variant 289556 RCV000356298 273793 PEX10 NM_153818.1:c.333C>T NP_722540.1:p.Leu111= NM_153818.1:c.333C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2408734 C T Variant 262789 RCV000249703;RCV000366305 249843 PEX10 NM_153818.1:c.318G>A NP_722540.1:p.Leu106= NM_153818.1:c.318G>A:synonymous variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408736 G A Variant 296281 RCV000269378 280503 PEX10 NM_153818.1:c.316C>T NP_722540.1:p.Leu106= NM_153818.1:c.316C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408761 T C Variant 129884 RCV000117902;RCV000326499 135330 PEX10 NM_153818.1:c.291A>G NP_722540.1:p.Thr97= NM_153818.1:c.291A>G:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;AllHighlyPenetrant;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408761 TG CA Variant 291010 RCV000356893 275247 PEX10 NM_153818.1:c.290_291delCAinsTG NP_722540.1:p.Thr97Met NM_153818.1:c.290_291delCAinsTG:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 2408772 C T Variant 296282 RCV000378821 281811 PEX10 NM_153818.1:c.280G>A NP_722540.1:p.Val94Met NM_153818.1:c.280G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408773 G A Variant 129883 RCV000117901;RCV000267822 135329 PEX10 NM_153818.1:c.279C>T NP_722540.1:p.Gly93= NM_153818.1:c.279C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;AllHighlyPenetrant;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408777 C T Variant 296283 RCV000320556 281812 PEX10 NM_153818.1:c.275G>A NP_722540.1:p.Arg92His NM_153818.1:c.275G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2408863 G A Variant 262788 RCV000250225;RCV000377774 249844 PEX10 NM_153818.1:c.194-5C>T NM_153818.1:c.194-5C>T:intron variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2412497 G C Variant 284321 RCV000280964;RCV000370857 268558 PEX10 NM_153818.1:c.6C>G NP_722540.1:p.Ala2= NM_153818.1:c.6C>G:synonymous variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Zellweger syndrome;Zellweger Syndrome;not specified 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN169374 -1 2412501 A G Variant 162434 RCV000149812 172125 PEX10 NM_153818.1:c.2T>C NP_722540.1:p.Met1Thr NM_153818.1:c.2T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 -1 2412502 T C Variant 280002 RCV000341916 263985 PEX10 NM_153818.1:c.1A>G NP_722540.1:p.Met1Val NM_153818.1:c.1A>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter 1 GeneDx not provided;Not Provided germline MedGen:CN221809 -1 2412552 CCA C Variant 296284 RCV000338225 281942 PEX10 NM_153818.1:c.-52_-51delTG NM_153818.1:c.-52_-51delTG:5 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 -1 2556714 A G Variant 135349 RCV000122164 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 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559013 C T Variant 133394 RCV000119896 137133 TNFRSF14 NM_003820.3:c.304+545C>T NM_003820.3:c.304+545C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559074 C G Variant 133395 RCV000119897 137134 TNFRSF14 NM_003820.3:c.304+606C>G NM_003820.3:c.304+606C>G:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559092 C T Variant 133396 RCV000119898 137135 TNFRSF14 NM_003820.3:c.304+624C>T NM_003820.3:c.304+624C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559110 C T Variant 133397 RCV000119899 137136 TNFRSF14 NM_003820.3:c.304+642C>T NM_003820.3:c.304+642C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559169 A G Variant 133398 RCV000119900 137137 TNFRSF14 NM_003820.3:c.305-654A>G NM_003820.3:c.305-654A>G:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559170 T C Variant 133399 RCV000119901 137138 TNFRSF14 NM_003820.3:c.305-653T>C NM_003820.3:c.305-653T>C:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559347 C T Variant 133400 RCV000119902 137139 TNFRSF14 NM_003820.3:c.305-476C>T NM_003820.3:c.305-476C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559361 G T Variant 133401 RCV000119903 137140 TNFRSF14 NM_003820.3:c.305-462G>T NM_003820.3:c.305-462G>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559422 G T Variant 133402 RCV000119904 137141 TNFRSF14 NM_003820.3:c.305-401G>T NM_003820.3:c.305-401G>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559426 T A Variant 133403 RCV000119905 137142 TNFRSF14 NM_003820.3:c.305-397T>A NM_003820.3:c.305-397T>A:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559459 C A Variant 133404 RCV000119906 137143 TNFRSF14 NM_003820.3:c.305-364C>A NM_003820.3:c.305-364C>A:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559495 C A Variant 133405 RCV000119907 137144 TNFRSF14 NM_003820.3:c.305-328C>A NM_003820.3:c.305-328C>A:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559503 C A Variant 133406 RCV000119908 137145 TNFRSF14 NM_003820.3:c.305-320C>A NM_003820.3:c.305-320C>A:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559515 C T Variant 133407 RCV000119909 137146 TNFRSF14 NM_003820.3:c.305-308C>T NM_003820.3:c.305-308C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559574 C T Variant 133408 RCV000119910 137147 TNFRSF14 NM_003820.3:c.305-249C>T NM_003820.3:c.305-249C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559622 G A Variant 133409 RCV000119911 137148 TNFRSF14 NM_003820.3:c.305-201G>A NM_003820.3:c.305-201G>A:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559632 C G Variant 133410 RCV000119912 137149 TNFRSF14 NM_003820.3:c.305-191C>G NM_003820.3:c.305-191C>G:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559632 C T Variant 133411 RCV000119913 137150 TNFRSF14 NM_003820.3:c.305-191C>T NM_003820.3:c.305-191C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559652 G A Variant 133412 RCV000119914 137151 TNFRSF14 NM_003820.3:c.305-171G>A NM_003820.3:c.305-171G>A:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559725 G A Variant 133413 RCV000119915 137152 TNFRSF14 NM_003820.3:c.305-98G>A NM_003820.3:c.305-98G>A:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559764 CCC ACT Variant 133415 RCV000119917 137154 TNFRSF14 NM_003820.3:c.305-59_305-57delCCCinsACT NM_003820.3:c.305-59_305-57delCCCinsACT:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559766 C T Variant 133414 RCV000119916 137153 TNFRSF14 NM_003820.3:c.305-57C>T NM_003820.3:c.305-57C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559866 C T Variant 135350 RCV000122165 139089 TNFRSF14 NM_003820.3:c.348C>T NP_003811.2:p.Asn116= NM_003820.3:c.348C>T:synonymous variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559867 G A Variant 135353 RCV000122168 139092 TNFRSF14 NM_003820.3:c.349G>A NP_003811.2:p.Ala117Thr NM_003820.3:c.349G>A:missense variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559923 C T Variant 135351 RCV000122166 139090 TNFRSF14 NM_003820.3:c.405C>T NP_003811.2:p.Cys135= NM_003820.3:c.405C>T:synonymous variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2559926 C T Variant 135352 RCV000122167 139091 TNFRSF14 NM_003820.3:c.408C>T NP_003811.2:p.Ala136= NM_003820.3:c.408C>T:synonymous variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2560684 G A Variant 135354 RCV000122169 139093 TNFRSF14 NM_003820.3:c.521G>A NP_003811.2:p.Gly174Glu NM_003820.3:c.521G>A:missense variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2561507 AG A Variant 133416 RCV000119918 137155 TNFRSF14 NM_003820.3:c.552-165delG NM_003820.3:c.552-165delG:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2561533 C T Variant 133417 RCV000119919 137156 TNFRSF14 NM_003820.3:c.552-140C>T NM_003820.3:c.552-140C>T:intron variant not provided 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2561679 C G Variant 91954 RCV000122511 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 0 0 0 no assertion criteria provided 0 Richard Lifton Laboratory, Yale University School of Medicine not provided;not provided somatic MedGen:CN221809 -1 2562891 G A Variant 135355 RCV000122170 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 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2563206 C T Variant 135356 RCV000122171 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 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 2563218 C T Variant 135357 RCV000122172 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 0 0 0 no assertion provided 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 -1 3069246 C A Variant 228319 RCV000214266 228411 PRDM16 NM_022114.3:c.-14C>A NM_022114.3:c.-14C>A:5 prime UTR variant not provided 0 0 0 no assertion provided 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified germline MedGen:CN169374 -1 3186110 C T Variant 227038 RCV000222776 228410 PRDM16 NM_022114.3:c.38-15C>T NM_022114.3:c.38-15C>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3186111 G A Variant 229168 RCV000219133 228412 PRDM16 NM_022114.3:c.38-14G>A NM_022114.3:c.38-14G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3186187 G A Variant 227857 RCV000215109;RCV000228623 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3186229 G A Variant 241420 RCV000234327 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3186288 G A Variant 227864 RCV000220218;RCV000228859 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3186480 C T Variant 227039 RCV000216479 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3244128 C T Variant 227040 RCV000219941 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3385157 C T Variant 227041 RCV000213616 228417 PRDM16 NM_022114.3:c.444C>T NP_071397.3:p.Ser148= NM_022114.3:c.444C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3385266 A G Variant 235271 RCV000224254 236958 PRDM16 NM_022114.3:c.553A>G NP_071397.3:p.Met185Val NM_022114.3:c.553A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 -1 3396544 C T Variant 227042 RCV000217911 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3396574 A C Variant 227872 RCV000217723 228419 PRDM16 NM_022114.3:c.657A>C NP_071397.3:p.Thr219= NM_022114.3:c.657A>C:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3402828 C A Variant 227874 RCV000214448 228420 PRDM16 NM_022114.3:c.714C>A NP_071397.3:p.Leu238= NM_022114.3:c.714C>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3402897 C T Variant 227043 RCV000220870;RCV000228241 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3402936 C T Variant 227875 RCV000217462 228423 PRDM16 NM_022114.3:c.822C>T NP_071397.3:p.Gly274= NM_022114.3:c.822C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3402981 G A Variant 229169 RCV000223395 228425 PRDM16 NM_022114.3:c.867G>A NP_071397.3:p.Met289Ile NM_022114.3:c.867G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3402986 C T Variant 60728 RCV000054522 75288 PRDM16 NM_022114.3:c.872C>T NP_071397.3:p.Pro291Leu NM_022114.3:c.872C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 -1 3405533 C T Variant 221025 RCV000204192;RCV000220538 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Invitae;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Left ventricular noncompaction 8;not specified;Not specified 24033266 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 -1 3405543 G A Variant 229155 RCV000213682 228426 PRDM16 NM_022114.3:c.1081G>A NP_071397.3:p.Val361Met NM_022114.3:c.1081G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3405555 G T Variant 229156 RCV000216650 228427 PRDM16 NM_022114.3:c.1093G>T NP_071397.3:p.Ala365Ser NM_022114.3:c.1093G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3405575 C T Variant 227022 RCV000214207 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3405578 G A Variant 227858 RCV000219433 228428 PRDM16 NM_022114.3:c.1116G>A NP_071397.3:p.Gly372= NM_022114.3:c.1116G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3405596 C G Variant 227859 RCV000222431 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411374 G C Variant 229157 RCV000221026 228431 PRDM16 NM_022114.3:c.1187-10G>C NM_022114.3:c.1187-10G>C:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411409 G A Variant 227023 RCV000217174;RCV000230341 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3411522 G A Variant 373356 RCV000414577 359261 PRDM16 NM_022114.3:c.1325G>A NP_071397.3:p.Arg442Gln NM_022114.3:c.1325G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 3411560 G A Variant 227860 RCV000214839 228433 PRDM16 NM_022114.3:c.1363G>A NP_071397.3:p.Gly455Ser NM_022114.3:c.1363G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411623 C T Variant 227024 RCV000221460 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411715 G A Variant 227025 RCV000214308 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411734 G A Variant 241421 RCV000228195 238269 PRDM16 NM_022114.3:c.1537G>A NP_071397.3:p.Gly513Ser NM_022114.3:c.1537G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3411765 A AC Variant 280120 RCV000365162 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter 1 GeneDx not provided;Not Provided germline MedGen:CN221809 -1 3411771 G A Variant 229158 RCV000213365 228436 PRDM16 NM_022114.3:c.1574G>A NP_071397.3:p.Arg525Gln NM_022114.3:c.1574G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411775 G A Variant 227861 RCV000219165 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411794 T C Variant 227026 RCV000217271 228438 PRDM16 NM_022114.3:c.1597T>C NP_071397.3:p.Ser533Pro NM_022114.3:c.1597T>C:missense variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411829 C T Variant 241422 RCV000232157 238270 PRDM16 NM_022114.3:c.1632C>T NP_071397.3:p.Asp544= NM_022114.3:c.1632C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3411881 G A Variant 227862 RCV000223463 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3411916 G A Variant 241423 RCV000225997 238271 PRDM16 NM_022114.3:c.1719G>A NP_071397.3:p.Ala573= NM_022114.3:c.1719G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412074 A T Variant 229159 RCV000217585 228441 PRDM16 NM_022114.3:c.1877A>T NP_071397.3:p.Asp626Val NM_022114.3:c.1877A>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412095 C T Variant 227027 RCV000221571 228440 PRDM16 NM_022114.3:c.1898C>T NP_071397.3:p.Pro633Leu NM_022114.3:c.1898C>T:missense variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412174 G A Variant 227863 RCV000215898 228442 PRDM16 NM_022114.3:c.1977G>A NP_071397.3:p.Pro659= NM_022114.3:c.1977G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412257 G C Variant 229160 RCV000221873 228443 PRDM16 NM_022114.3:c.2060G>C NP_071397.3:p.Gly687Ala NM_022114.3:c.2060G>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412286 G T Variant 229161 RCV000214303 228444 PRDM16 NM_022114.3:c.2089G>T NP_071397.3:p.Ala697Ser NM_022114.3:c.2089G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412288 A T Variant 227028 RCV000215257 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412297 C T Variant 220733 RCV000204005 221096 PRDM16 NM_022114.3:c.2100C>T NP_071397.3:p.Ala700= NM_022114.3:c.2100C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412301 A T Variant 60724 RCV000054518 75284 PRDM16 NM_022114.3:c.2104A>T NP_071397.3:p.Lys702Ter NM_022114.3:c.2104A>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412327 G A Variant 241424 RCV000232265 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412487 G A Variant 229162 RCV000217269;RCV000226109 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412631 C T Variant 229163 RCV000221476 228447 PRDM16 NM_022114.3:c.2434C>T NP_071397.3:p.Arg812Cys NM_022114.3:c.2434C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412644 A G Variant 60726 RCV000054520 75286 PRDM16 NM_022114.3:c.2447A>G NP_071397.3:p.Asn816Ser NM_022114.3:c.2447A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412646 G A Variant 241425 RCV000230075 238273 PRDM16 NM_022114.3:c.2449G>A NP_071397.3:p.Gly817Ser NM_022114.3:c.2449G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412649 G A Variant 241426 RCV000232966 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412665 G C Variant 227865 RCV000223185;RCV000226799 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266,26350513 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3412699 C T Variant 227029 RCV000219694 228449 PRDM16 NM_022114.3:c.2502C>T NP_071397.3:p.Gly834= NM_022114.3:c.2502C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412703 G A Variant 227030 RCV000221333 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3412773 C T Variant 229164 RCV000215161 228451 PRDM16 NM_022114.3:c.2576C>T NP_071397.3:p.Ser859Leu NM_022114.3:c.2576C>T:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 -1 3414590 C T Variant 227866 RCV000216924 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3414616 T C Variant 60729 RCV000054523 75289 PRDM16 NM_022114.3:c.2660T>C NP_071397.3:p.Leu887Pro NM_022114.3:c.2660T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 -1 3414629 G A Variant 227031 RCV000215017 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3417877 T C Variant 241427 RCV000229654 238275 PRDM16 NM_022114.3:c.2741T>C NP_071397.3:p.Met914Thr NM_022114.3:c.2741T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3417883 C T Variant 218791 RCV000203205 215209 PRDM16 NM_022114.3:c.2747C>T NP_071397.3:p.Ala916Val NM_022114.3:c.2747C>T:missense variant Benign 0 1 0 criteria provided, single submitter 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;Not specified unknown MedGen:CN169374 -1 3417916 A C Variant 373755 RCV000413206 359242 PRDM16 NM_022114.3:c.2780A>C NP_071397.3:p.His927Pro NM_022114.3:c.2780A>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 3417922 C A Variant 229165 RCV000219521 228454 PRDM16 NM_022114.3:c.2786C>A NP_071397.3:p.Pro929His NM_022114.3:c.2786C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3417929 C T Variant 227032 RCV000219295;RCV000233639 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3417941 A ACC Variant 229166 RCV000221072 228456 PRDM16 NM_022114.3:c.2809_2810dupCC NP_071397.3:p.Thr938Glnfs NM_022114.3:c.2809_2810dupCC:frameshift variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3417951 C G Variant 373801 RCV000414615 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 3417992 G A Variant 227867 RCV000219939 228457 PRDM16 NM_022114.3:c.2856G>A NP_071397.3:p.Thr952= NM_022114.3:c.2856G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3425566 G A Variant 229167 RCV000214743 228458 PRDM16 NM_022114.3:c.2940-15G>A NM_022114.3:c.2940-15G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3425594 G A Variant 373270 RCV000413640 359356 PRDM16 NM_022114.3:c.2953G>A NP_071397.3:p.Asp985Asn NM_022114.3:c.2953G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 3425743 C T Variant 241428 RCV000226908 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3425760 G A Variant 227033 RCV000223403 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3425762 G C Variant 227868 RCV000213653 228460 PRDM16 NM_022114.3:c.3109+12G>C NM_022114.3:c.3109+12G>C:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3426047 G A Variant 227869 RCV000217996 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3426070 C T Variant 241429 RCV000230873 238277 PRDM16 NM_022114.3:c.3129C>T NP_071397.3:p.Val1043= NM_022114.3:c.3129C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3426071 C T Variant 227034 RCV000215790;RCV000232612 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3426076 G A Variant 227870 RCV000220998 228463 PRDM16 NM_022114.3:c.3135G>A NP_071397.3:p.Thr1045= NM_022114.3:c.3135G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3426210 C T Variant 241430 RCV000227583 238278 PRDM16 NM_022114.3:c.3269C>T NP_071397.3:p.Thr1090Met NM_022114.3:c.3269C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3426240 G T Variant 227035 RCV000218772 228464 PRDM16 NM_022114.3:c.3284+15G>T NM_022114.3:c.3284+15G>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3430888 G A Variant 60727 RCV000054521;RCV000204421;RCV000223010 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 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 All ages 1-9 / 100 000 germline MedGen:CN178850;OMIM:615373;MedGen:C3809288;Orphanet:154;Orphanet:54260;MedGen:CN169374 -1 3430953 C T Variant 227871 RCV000213381 228465 PRDM16 NM_022114.3:c.3366C>T NP_071397.3:p.Asp1122= NM_022114.3:c.3366C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3430956 C T Variant 227036 RCV000216881;RCV000230406 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3432065 A T Variant 241431 RCV000234393 238279 PRDM16 NM_022114.3:c.3621A>T NP_071397.3:p.Glu1207Asp NM_022114.3:c.3621A>T:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 -1 3432131 T C Variant 227037 RCV000219826 228467 PRDM16 NM_022114.3:c.3687T>C NP_071397.3:p.Ala1229= NM_022114.3:c.3687T>C:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 3816372 T C Variant 221277 RCV000207283 222988 CEP104 NM_014704.3:c.2572-2A>G NM_014704.3:c.2572-2A>G:splice acceptor variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 -1 3835079 T TA Variant 221275 RCV000207071 222986 CEP104 NM_014704.3:c.1328_1329insT NP_055519.1:p.Tyr444Leufs NM_014704.3:c.1328_1329insT:frameshift variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 -1 3839606 A G Variant 221274 RCV000207253 222985 CEP104 NM_014704.3:c.735+2T>C NM_014704.3:c.735+2T>C:splice donor variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546,7 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 -1 3844977 G A Variant 221276 RCV000207197 222987 CEP104 NM_014704.3:c.496C>T NP_055519.1:p.Arg166Ter NM_014704.3:c.496C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 -1 5862951 A C Variant 297781 RCV000273736;RCV000332696 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 0 1 0 criteria provided, single submitter 1 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 -1 5863137 T G Variant 297782 RCV000260041;RCV000389549 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 0 1 0 criteria provided, single submitter 1 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 -1 5863239 G A Variant 297783 RCV000317634;RCV000374332 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 0 0 0 criteria provided, single submitter 1 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 -1 5863309 C T Variant 297784 RCV000282410;RCV000339705 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 Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5863367 A T Variant 95686 RCV000081719 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 Benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5863401 C T Variant 196631 RCV000177474 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5863403 G A Variant 288025 RCV000266655 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5863416 G A Variant 260560 RCV000246011;RCV000286079;RCV000377961 249993 NPHP4 NM_015102.4:c.4141-11C>T NM_015102.4:c.4141-11C>T:intron variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 PreventionGenetics,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 -1 5863916 G A Variant 215887 RCV000198249;RCV000407300 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 Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 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 -1 5863955 G A Variant 190975 RCV000171146;RCV000308383;RCV000346948 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 Likely pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations 1 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 -1 5863996 C T Variant 291157 RCV000312005;RCV000391142;RCV000407270 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 0 0 0 criteria provided, multiple submitters, no conflicts 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University 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 -1 5864350 C T Variant 215886 RCV000196648 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 0 1 0 criteria provided, single submitter 1 Invitae Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5864370 A C Variant 297785 RCV000276833;RCV000369051 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 0 0 0 criteria provided, single submitter 1 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 -1 5864374 G A Variant 282577 RCV000315514;RCV000353114;RCV000353952 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 0 0 0 criteria provided, multiple submitters, no conflicts 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University 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 -1 5864407 G A Variant 196137 RCV000176883 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5864423 T C Variant 196138 RCV000176884 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 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5864458 G A Variant 95685 RCV000081718;RCV000205951;RCV000261468 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 Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5864470 G A Variant 297786 RCV000264957;RCV000375871 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 0 0 0 criteria provided, single submitter 1 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 -1 5864483 C T Variant 286996 RCV000395711 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 Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5864491 C A Variant 167370 RCV000153582 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5864497 G A Variant 167371 RCV000153583;RCV000199892 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 Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865141 C T Variant 287096 RCV000278432;RCV000322356;RCV000379124 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 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;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 -1 5865156 C A Variant 297787 RCV000287037;RCV000344394 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 0 0 0 criteria provided, single submitter 1 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 -1 5865160 C T Variant 297788 RCV000290652;RCV000382692 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 0 0 0 criteria provided, single submitter 1 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 -1 5865161 G A Variant 286539 RCV000310947 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5865164 G A Variant 95684 RCV000081717 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5865195 G A Variant 297789 RCV000347891;RCV000401689 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 0 0 0 criteria provided, single submitter 1 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 -1 5865213 G A Variant 297790 RCV000312869;RCV000352075 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 0 0 0 criteria provided, single submitter 1 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 -1 5865215 G A Variant 297791 RCV000298425;RCV000407610 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 0 0 0 criteria provided, single submitter 1 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 -1 5865244 G A Variant 196032 RCV000176754;RCV000231868 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5865288 G A Variant 297792 RCV000263212;RCV000355588 283017 NPHP4 NM_015102.4:c.3645-15C>T NM_015102.4:c.3645-15C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5865311 G A Variant 260559 RCV000248599 249994 NPHP4 NM_015102.4:c.3645-38C>T NM_015102.4:c.3645-38C>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5866405 C T Variant 297793 RCV000302018;RCV000359177 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 0 0 0 criteria provided, single submitter 1 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 -1 5866442 C T Variant 195976 RCV000176676 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5866443 G A Variant 188389 RCV000168448;RCV000271940 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 Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Invitae;Emory Genetics Laboratory,Emory University Nephronophthisis;not specified 0,15776426,22550138,27336129,3574,4;15776426,26346198 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374 -1 5866447 T C Variant 95683 RCV000081716;RCV000266333;RCV000324301 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5866476 AG A Variant 260558 RCV000253685 249995 NPHP4 NM_015102.4:c.3559-19delC NM_015102.4:c.3559-19delC:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5867070 C T Variant 297794 RCV000270302;RCV000362620 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 0 0 0 criteria provided, single submitter 1 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 -1 5867109 G A Variant 220304 RCV000205285;RCV000248751;RCV000384533 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 Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Invitae;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics,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 -1 5867131 T C Variant 260557 RCV000243373 249996 NPHP4 NM_015102.4:c.3473-16A>G NM_015102.4:c.3473-16A>G:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5867734 A G Variant 260556 RCV000251356 249997 NPHP4 NM_015102.4:c.3472+6T>C NM_015102.4:c.3472+6T>C:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5867758 G A Variant 195828 RCV000176491 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5867767 G A Variant 287251 RCV000353388 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5867827 C T Variant 289977 RCV000281891 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5867883 G A Variant 95682 RCV000081715;RCV000292444;RCV000331197 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 Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina 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 -1 5873220 C T Variant 260555 RCV000246810 249998 NPHP4 NM_015102.4:c.3315+32G>A NM_015102.4:c.3315+32G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5873324 C G Variant 95681 RCV000081714;RCV000296377;RCV000388001 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 Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5874430 A G Variant 260554 RCV000252694 249999 NPHP4 NM_015102.4:c.3231+41T>C NM_015102.4:c.3231+41T>C:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5874440 T C Variant 260553 RCV000247753 250000 NPHP4 NM_015102.4:c.3231+31A>G NM_015102.4:c.3231+31A>G:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5874466 C T Variant 297795 RCV000335051;RCV000398811 283022 NPHP4 NM_015102.4:c.3231+5G>A NM_015102.4:c.3231+5G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5874521 C T Variant 167372 RCV000153584 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874534 G A Variant 288722 RCV000307652 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 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874542 G A Variant 190976 RCV000171147 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 1 0 0 criteria provided, single submitter 1 Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre not provided;Not provided 25741868 germline MedGen:CN221809 -1 5874552 C T Variant 288724 RCV000273056 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874558 G A Variant 240970 RCV000234198 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 0 1 0 criteria provided, single submitter 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874584 T C Variant 286777 RCV000366209 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874592 T G Variant 291100 RCV000373342 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874621 C T Variant 260552 RCV000243174 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 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5874624 G A Variant 297796 RCV000280994;RCV000338607 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 0 0 0 criteria provided, single submitter 1 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 -1 5874629 C G Variant 297797 RCV000303466;RCV000392493 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 0 0 0 criteria provided, single submitter 1 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 -1 5874650 C T Variant 220869 RCV000206676 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 0 0 0 criteria provided, single submitter 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5874656 C T Variant 297798 RCV000360589;RCV000392484 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 0 0 0 criteria provided, single submitter 1 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 -1 5874661 G T Variant 297799 RCV000307136;RCV000364227 280976 NPHP4 NM_015102.4:c.3045-4C>A NM_015102.4:c.3045-4C>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5874882 G A Variant 195613 RCV000176220 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5874890 C T Variant 195609 RCV000176217 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874891 G A Variant 297800 RCV000272007;RCV000329409 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 0 0 0 criteria provided, single submitter 1 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 -1 5874906 C T Variant 291268 RCV000379083 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874946 A G Variant 3402 RCV000003571 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 1 0 0 no assertion criteria provided 0 OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 -1 5874953 C T Variant 195608 RCV000176216;RCV000261619;RCV000367814 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 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;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 -1 5874954 G A Variant 290383 RCV000351809 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874959 C T Variant 286338 RCV000345507 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5874973 T TGGAGC Variant 95680 RCV000081713 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 1 0 0 no assertion criteria provided 0 Emory Genetics Laboratory,Emory University not provided;not provided 23757202 germline MedGen:CN221809 -1 5874979 G A Variant 289035 RCV000400326 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875004 T C Variant 195610 RCV000176218;RCV000224574 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 -1 5875016 C T Variant 291052 RCV000279729 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875026 G A Variant 195614 RCV000176221 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875036 C T Variant 167373 RCV000153585;RCV000206662 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5875042 C T Variant 240969 RCV000231338;RCV000389915 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 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 -1 5875050 G A Variant 167374 RCV000153586;RCV000295648;RCV000331805 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5875069 C T Variant 291277 RCV000314498 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5875098 C T Variant 260551 RCV000242359;RCV000291890;RCV000386368 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 Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 PreventionGenetics,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 -1 5875120 G A Variant 195612 RCV000176219 192773 NPHP4 NM_015102.4:c.2818-20C>T NM_015102.4:c.2818-20C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877098 C T Variant 260550 RCV000250885 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 -1 5877102 C T Variant 240968 RCV000227512;RCV000245940;RCV000401361 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Invitae;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University 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 -1 5877103 G A Variant 284756 RCV000398485 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877103 G T Variant 167376 RCV000153588 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877108 G A Variant 95679 RCV000081712;RCV000288432;RCV000343148 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5877186 C T Variant 95678 RCV000081711;RCV000303360;RCV000399353 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5877200 C T Variant 297801 RCV000358103;RCV000407118 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 0 0 0 criteria provided, single submitter 1 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 -1 5877209 G A Variant 297802 RCV000300044;RCV000354793 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 0 0 0 criteria provided, single submitter 1 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 -1 5877223 C T Variant 286862 RCV000301378 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877257 T G Variant 291103 RCV000284900 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877257 TGTCCAC GGTCCAT Variant 291179 RCV000393877 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877263 C T Variant 291099 RCV000316330 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5877267 C T Variant 95677 RCV000081710;RCV000260042;RCV000314742 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5877268 G A Variant 297803 RCV000274871;RCV000369396 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 0 0 0 criteria provided, single submitter 1 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 -1 5877331 C T Variant 260547 RCV000243253 250004 NPHP4 NM_015102.4:c.2612-33G>A NM_015102.4:c.2612-33G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5880156 G A Variant 288104 RCV000318135 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5880168 C A Variant 297804 RCV000330012;RCV000384597 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 0 0 0 criteria provided, single submitter 1 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 -1 5880182 C T Variant 95676 RCV000081709 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5880183 G A Variant 95675 RCV000081708 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 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5880194 G A Variant 297805 RCV000271097;RCV000326128 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 0 0 0 criteria provided, single submitter 1 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 -1 5880206 C T Variant 289888 RCV000334924 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5880215 C T Variant 194970 RCV000175463 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5887248 G A Variant 260546 RCV000253302 250005 NPHP4 NM_015102.4:c.2485+38C>T NM_015102.4:c.2485+38C>T:intron variant Benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5887306 T C Variant 194865 RCV000175333 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5887312 C T Variant 297806 RCV000286794;RCV000380703 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 0 0 0 criteria provided, single submitter 1 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 -1 5887313 G A Variant 287002 RCV000264657 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 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5887346 T C Variant 194866 RCV000175334 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 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5887352 G A Variant 297807 RCV000341820;RCV000377653 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 0 0 0 criteria provided, single submitter 1 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 -1 5887394 G A Variant 3400 RCV000003569 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 1 0 0 no assertion criteria provided 0 OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 -1 5887403 C A Variant 3399 RCV000003568 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 1 0 0 no assertion criteria provided 0 OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 -1 5887411 A T Variant 156398 RCV000144480 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 0 0 0 no assertion criteria provided 0 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;MedGen:C0339527;OMIM:204000;OMIM:PS204000;Office of Rare Diseases:634;Orphanet:ORPHA65;SNOMED CT:193413001 -1 5887436 G A Variant 3404 RCV000003573;RCV000234814 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 1 0 0 no assertion criteria provided 0 OMIM;GeneReviews Senior-Loken syndrome 4;SENIOR-LOKEN SYNDROME 4;Nephronophthisis 11920287,12205563,6837691;12205563,27336129 Childhood <1 / 1 000 000 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 -1 5890879 C T Variant 95674 RCV000081707;RCV000196064 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 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 23757202;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5890912 C T Variant 297808 RCV000283252;RCV000338114 282765 NPHP4 NM_015102.4:c.2260G>A NP_055917.1:p.Gly754Arg NM_015102.4:c.2260G>A:missense variant;NR_111987.1:n.2525G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 12205563,15776426,16339905,17558407,21546380,21866095,27336129 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 -1 5890913 G A Variant 289327 RCV000296052;RCV000298397;RCV000400933 273564 NPHP4 NM_015102.4:c.2259C>T NP_055917.1:p.Asp753= NM_015102.4:c.2259C>T:synonymous variant;NR_111987.1:n.2524C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 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 -1 5890915 C T Variant 194764 RCV000175205;RCV000204681;RCV000392070 191927 NPHP4 NM_015102.4:c.2257G>A NP_055917.1:p.Asp753Asn NM_015102.4:c.2257G>A:missense variant;NR_111987.1:n.2522G>A:non-coding transcript variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Emory Genetics Laboratory,Emory University;Invitae;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 -1 5890926 A G Variant 297809 RCV000312745;RCV000367388 281565 NPHP4 NM_015102.4:c.2246T>C NP_055917.1:p.Ile749Thr NM_015102.4:c.2246T>C:missense variant;NR_111987.1:n.2511T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5890942 C T Variant 297810 RCV000272818;RCV000309369 280978 NPHP4 NM_015102.4:c.2230G>A NP_055917.1:p.Val744Met NM_015102.4:c.2230G>A:missense variant;NR_111987.1:n.2495G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5890953 C T Variant 240967 RCV000233672;RCV000248287;RCV000364078 238340 NPHP4 NM_015102.4:c.2219G>A NP_055917.1:p.Arg740His NM_015102.4:c.2219G>A:missense variant;NR_111987.1:n.2484G>A:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Invitae;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics,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 -1 5890969 G A Variant 194765 RCV000175206 191928 NPHP4 NM_015102.4:c.2203C>T NP_055917.1:p.Arg735Trp NM_015102.4:c.2203C>T:missense variant;NR_111987.1:n.2468C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified 15776426 germline MedGen:CN169374 -1 5890974 C T Variant 156399 RCV000144481 166179 NPHP4 NM_015102.4:c.2198G>A NP_055917.1:p.Gly733Asp NM_015102.4:c.2198G>A:missense variant;NR_111987.1:n.2463G>A:non-coding transcript variant Uncertain significance 0 0 0 no assertion criteria provided 0 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;MedGen:C0339527;OMIM:204000;OMIM:PS204000;Office of Rare Diseases:634;Orphanet:ORPHA65;SNOMED CT:193413001 -1 5904618 A T Variant 290903 RCV000349584 275140 NPHP4 NM_015102.4:c.2142T>A NP_055917.1:p.Ala714= NM_015102.4:c.2142T>A:synonymous variant;NR_111987.1:n.2407T>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5904645 A G Variant 297811 RCV000324605;RCV000379250 283026 NPHP4 NM_015102.4:c.2115T>C NP_055917.1:p.Pro705= NM_015102.4:c.2115T>C:synonymous variant;NR_111987.1:n.2380T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5904709 T C Variant 283814 RCV000376589 268051 NPHP4 NM_015102.4:c.2051A>G NP_055917.1:p.Gln684Arg NM_015102.4:c.2051A>G:missense variant;NR_111987.1:n.2316A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5904716 G A Variant 3401 RCV000003570;RCV000162133 18440 NPHP4 NM_015102.4:c.2044C>T NP_055917.1:p.Arg682Ter NM_015102.4:c.2044C>T:nonsense;NR_111987.1:n.2309C>T:non-coding transcript variant Likely pathogenic;Pathogenic 1 0 0 no assertion criteria provided 0 OMIM;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Nephronophthisis 4;NEPHRONOPHTHISIS 4;Infertility;Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) 12244321;25558065 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre:12DG0088;Human Phenotype Ontology:HP:0000789;MedGen:CN000737;MedGen:CN228268 -1 5904728 C A Variant 291245 RCV000384834 275482 NPHP4 NM_015102.4:c.2032G>T NP_055917.1:p.Ala678Ser NM_015102.4:c.2032G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5904729 G A Variant 240966 RCV000230949;RCV000244563;RCV000266088 238341 NPHP4 NM_015102.4:c.2031C>T NP_055917.1:p.Pro677= NM_015102.4:c.2031C>T:synonymous variant;NR_111987.1:n.2296C>T:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Invitae;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics,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 -1 5904773 G T Variant 297812 RCV000280518;RCV000375877 281570 NPHP4 NM_015102.4:c.1987C>A NP_055917.1:p.Pro663Thr NM_015102.4:c.1987C>A:missense variant;NR_111987.1:n.2252C>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5904788 G A Variant 3405 RCV000003574;RCV000234826 18444 NPHP4 NM_015102.4:c.1972C>T NP_055917.1:p.Arg658Ter NM_015102.4:c.1972C>T:nonsense;NR_111987.1:n.2237C>T:non-coding transcript variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM;GeneReviews Senior-Loken syndrome 4;SENIOR-LOKEN SYNDROME 4;Nephronophthisis 12205563,1248184;12205563,27336129 Childhood <1 / 1 000 000 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 -1 5904794 C T Variant 194659 RCV000175082;RCV000335529;RCV000371477 191822 NPHP4 NM_015102.4:c.1966G>A NP_055917.1:p.Asp656Asn NM_015102.4:c.1966G>A:missense variant;NR_111987.1:n.2231G>A:non-coding transcript variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Emory Genetics Laboratory,Emory University;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 -1 5905285 G T Variant 297813 RCV000295698;RCV000351664 283037 NPHP4 NM_015102.4:c.1955+7C>A NM_015102.4:c.1955+7C>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5905312 T C Variant 215885 RCV000198366 212107 NPHP4 NM_015102.4:c.1935A>G NP_055917.1:p.Leu645= NM_015102.4:c.1935A>G:synonymous variant;NR_111987.1:n.2200A>G:non-coding transcript variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5905318 C T Variant 297814 RCV000312028;RCV000398959 282769 NPHP4 NM_015102.4:c.1929G>A NP_055917.1:p.Met643Ile NM_015102.4:c.1929G>A:missense variant;NR_111987.1:n.2194G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5905320 T C Variant 194539 RCV000174926 191702 NPHP4 NM_015102.4:c.1927A>G NP_055917.1:p.Met643Val NM_015102.4:c.1927A>G:missense variant;NR_111987.1:n.2192A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5905321 C T Variant 95673 RCV000081706;RCV000348170;RCV000392232 101570 NPHP4 NM_015102.4:c.1926G>A NP_055917.1:p.Glu642= NM_015102.4:c.1926G>A:synonymous variant;NR_111987.1:n.2191G>A:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5905324 G A Variant 286805 RCV000308350;RCV000363050;RCV000400262 271042 NPHP4 NM_015102.4:c.1923C>T NP_055917.1:p.Asn641= NM_015102.4:c.1923C>T:synonymous variant;NR_111987.1:n.2188C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;not specified 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;MedGen:CN169374 -1 5905373 G A Variant 297815 RCV000304601;RCV000392231 283038 NPHP4 NM_015102.4:c.1874C>T NP_055917.1:p.Pro625Leu NM_015102.4:c.1874C>T:missense variant;NR_111987.1:n.2139C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5905380 T C Variant 281976 RCV000284712 266213 NPHP4 NM_015102.4:c.1867A>G NP_055917.1:p.Thr623Ala NM_015102.4:c.1867A>G:missense variant;NR_111987.1:n.2132A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5905395 C T Variant 240965 RCV000226987;RCV000248016 238342 NPHP4 NM_015102.4:c.1852G>A NP_055917.1:p.Glu618Lys NM_015102.4:c.1852G>A:missense variant;NR_111987.1:n.2117G>A:non-coding transcript variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Invitae;PreventionGenetics,PreventionGenetics Nephronophthisis;not specified;NOT SPECIFIED 27336129;25741868 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374 -1 5905488 G A Variant 297816 RCV000264546;RCV000359321 283040 NPHP4 NM_015102.4:c.1764-5C>T NM_015102.4:c.1764-5C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5905690 G C Variant 235419 RCV000224162;RCV000244128 237104 NPHP4 NM_015102.4:c.1705C>G NP_055917.1:p.Gln569Glu NM_015102.4:c.1705C>G:missense variant;NR_111987.1:n.1970C>G:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;PreventionGenetics,PreventionGenetics not provided;not specified;NOT SPECIFIED 25741868 germline MedGen:CN221809;MedGen:CN169374 -1 5905727 G A Variant 297817 RCV000319687;RCV000355974 283041 NPHP4 NM_015102.4:c.1668C>T NP_055917.1:p.Thr556= NM_015102.4:c.1668C>T:synonymous variant;NR_111987.1:n.1933C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5905763 G A Variant 194411 RCV000174775;RCV000261125;RCV000316449 191574 NPHP4 NM_015102.4:c.1632C>T NP_055917.1:p.Ala544= NM_015102.4:c.1632C>T:synonymous variant;NR_111987.1:n.1897C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 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 -1 5905764 G C Variant 260545 RCV000252129;RCV000293641;RCV000389624 250006 NPHP4 NM_015102.4:c.1631C>G NP_055917.1:p.Ala544Gly NM_015102.4:c.1631C>G:missense variant;NR_111987.1:n.1896C>G:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 PreventionGenetics,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 -1 5905773 G A Variant 282763 RCV000329954;RCV000384528;RCV000403180 267000 NPHP4 NM_015102.4:c.1622C>T NP_055917.1:p.Pro541Leu NM_015102.4:c.1622C>T:missense variant;NR_111987.1:n.1887C>T:non-coding transcript variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis;not specified 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;MedGen:CN169374 -1 5907106 G A Variant 95672 RCV000081705;RCV000289949;RCV000344879 101569 NPHP4 NM_015102.4:c.1611+9C>T NM_015102.4:c.1611+9C>T:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 23757202;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 -1 5907184 C T Variant 219984 RCV000206457 221111 NPHP4 NM_001291593.1:c.76-1404G>A NP_055917.1:p.Pro514= NM_001291593.1:c.76-1404G>A:intron variant;NM_015102.4:c.1542G>A:synonymous variant;NR_111987.1:n.1810G>A:non-coding transcript variant Benign 0 1 0 criteria provided, single submitter 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5907193 C T Variant 194253 RCV000174579 191416 NPHP4 NM_001291593.1:c.76-1413G>A NP_055917.1:p.Pro511= NM_001291593.1:c.76-1413G>A:intron variant;NM_015102.4:c.1533G>A:synonymous variant;NR_111987.1:n.1801G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5907199 G A Variant 297818 RCV000286277;RCV000400158 281571 NPHP4 NM_001291593.1:c.76-1419C>T NP_055917.1:p.Ala509= NM_001291593.1:c.76-1419C>T:intron variant;NM_015102.4:c.1527C>T:synonymous variant;NR_111987.1:n.1795C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5909142 C T Variant 297819 RCV000341292;RCV000399273 283060 NPHP4 NM_015102.4:c.1503+10G>A NM_015102.4:c.1503+10G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5909155 T C Variant 260544 RCV000247575 250007 NPHP4 NM_001291593.1:c.76-3375A>G NP_055917.1:p.Pro500= NM_001291593.1:c.76-3375A>G:intron variant;NM_015102.4:c.1500A>G:synonymous variant;NR_111987.1:n.1768A>G:non-coding transcript variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5909165 G C Variant 215518 RCV000199316;RCV000356919 212108 NPHP4 NM_001291593.1:c.76-3385C>G NP_055917.1:p.Pro497Arg NM_001291593.1:c.76-3385C>G:intron variant;NM_015102.4:c.1490C>G:missense variant;NR_111987.1:n.1758C>G:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 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 -1 5909173 C T Variant 215517 RCV000197103 212109 NPHP4 NM_001291593.1:c.76-3393G>A NP_055917.1:p.Gln494= NM_001291593.1:c.76-3393G>A:intron variant;NM_015102.4:c.1482G>A:synonymous variant;NR_111987.1:n.1750G>A:non-coding transcript variant Benign 0 1 0 criteria provided, single submitter 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5909185 G A Variant 260543 RCV000242594;RCV000298314;RCV000407163 250008 NPHP4 NM_001291593.1:c.76-3405C>T NP_055917.1:p.Leu490= NM_001291593.1:c.76-3405C>T:intron variant;NM_015102.4:c.1470C>T:synonymous variant;NR_111987.1:n.1738C>T:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 PreventionGenetics,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 -1 5909193 G A Variant 297820 RCV000353231 283062 NPHP4 NM_001291593.1:c.76-3413C>T NP_055917.1:p.Arg488Ter NM_001291593.1:c.76-3413C>T:intron variant;NM_015102.4:c.1462C>T:nonsense;NR_111987.1:n.1730C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina NPHP4-Related Disorders;NPHP4-Related Disorders 15776426,21866095 germline Illumina Clinical Services Laboratory,Illumina:454178 -1 5909210 G A Variant 284999 RCV000277373;RCV000332355;RCV000343427 269236 NPHP4 NM_001291593.1:c.76-3430C>T NP_055917.1:p.Pro482Leu NM_001291593.1:c.76-3430C>T:intron variant;NM_015102.4:c.1445C>T:missense variant;NR_111987.1:n.1713C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;not specified 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;MedGen:CN169374 -1 5909220 G A Variant 166893 RCV000153042;RCV000274055;RCV000368626 177610 NPHP4 NM_015102.4:c.1442-7C>T NM_015102.4:c.1442-7C>T:intron variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5927636 T C Variant 95671 RCV000081704;RCV000328999;RCV000383592 101568 NPHP4 NM_015102.4:c.1441+13A>G NM_015102.4:c.1441+13A>G:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 -1 5927660 G A Variant 286321 RCV000311799 270558 NPHP4 NM_015102.4:c.1430C>T NP_055917.1:p.Thr477Met NM_015102.4:c.1430C>T:missense variant;NR_111987.1:n.1698C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5927682 G A Variant 297821 RCV000289380;RCV000325654 282770 NPHP4 NM_001291593.1:c.42C>T NP_001278522.1:p.Gly14= NM_001291593.1:c.42C>T:synonymous variant;NM_015102.4:c.1408C>T:missense variant;NR_111987.1:n.1676C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5927714 G T Variant 240964 RCV000233283 238343 NPHP4 NM_015102.4:c.1376C>A NP_055917.1:p.Thr459Lys NM_001291593.1:c.10C>A:synonymous variant;NM_015102.4:c.1376C>A:missense variant;NR_111987.1:n.1644C>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5927760 G A Variant 297822 RCV000285959;RCV000380350 282778 NPHP4 NM_015102.4:c.1330C>T NP_055917.1:p.Arg444Trp NM_001291593.1:c.-37C>T:5 prime UTR variant;NM_015102.4:c.1330C>T:missense variant;NR_111987.1:n.1598C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5927771 G A Variant 193899 RCV000174129;RCV000229308 191062 NPHP4 NM_015102.4:c.1319C>T NP_055917.1:p.Ser440Leu NM_001291593.1:c.-48C>T:5 prime UTR variant;NM_015102.4:c.1319C>T:missense variant;NR_111987.1:n.1587C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5933245 A T Variant 287256 RCV000331202 271493 NPHP4 NM_015102.4:c.1204T>A NP_055917.1:p.Ser402Thr NM_001291593.1:c.-163T>A:5 prime UTR variant;NM_015102.4:c.1204T>A:missense variant;NR_111987.1:n.1472T>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5933253 T C Variant 297823 RCV000340961;RCV000389927 282780 NPHP4 NM_015102.4:c.1196A>G NP_055917.1:p.Glu399Gly NM_001291593.1:c.-171A>G:5 prime UTR variant;NM_015102.4:c.1196A>G:missense variant;NR_111987.1:n.1464A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5933283 A G Variant 297824 RCV000280582;RCV000337930 281572 NPHP4 NM_015102.4:c.1166T>C NP_055917.1:p.Val389Ala NM_001291593.1:c.-201T>C:5 prime UTR variant;NM_015102.4:c.1166T>C:missense variant;NR_111987.1:n.1434T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5933322 G A Variant 288535 RCV000270134;RCV000298117;RCV000401015 272772 NPHP4 NM_015102.4:c.1127C>T NP_055917.1:p.Ser376Leu NM_001291593.1:c.-240C>T:5 prime UTR variant;NM_015102.4:c.1127C>T:missense variant;NR_111987.1:n.1395C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;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 -1 5933342 C A Variant 297825 RCV000350599;RCV000391847 280979 NPHP4 NM_015102.4:c.1120-13G>T NM_015102.4:c.1120-13G>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5947109 C T Variant 290074 RCV000278266 274311 NPHP4 NM_015102.4:c.1114G>A NP_055917.1:p.Gly372Ser NM_001291593.1:c.-253G>A:5 prime UTR variant;NM_015102.4:c.1114G>A:missense variant;NR_111987.1:n.1382G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5947134 C A Variant 199135 RCV000180648 196294 NPHP4 NM_015102.4:c.1089G>T NP_055917.1:p.Val363= NM_001291593.1:c.-278G>T:5 prime UTR variant;NM_015102.4:c.1089G>T:synonymous variant;NR_111987.1:n.1357G>T:non-coding transcript variant Benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5947144 A G Variant 199134 RCV000180647 196293 NPHP4 NM_015102.4:c.1079T>C NP_055917.1:p.Leu360Pro NM_001291593.1:c.-288T>C:5 prime UTR variant;NM_015102.4:c.1079T>C:missense variant;NR_111987.1:n.1347T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5947158 C T Variant 297826 RCV000313161;RCV000365411 280984 NPHP4 NM_015102.4:c.1065G>A NP_055917.1:p.Ala355= NM_001291593.1:c.-302G>A:5 prime UTR variant;NM_015102.4:c.1065G>A:synonymous variant;NR_111987.1:n.1333G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5947175 C T Variant 288723 RCV000362398 272960 NPHP4 NM_015102.4:c.1048G>A NP_055917.1:p.Gly350Ser NM_001291593.1:c.-319G>A:5 prime UTR variant;NM_015102.4:c.1048G>A:missense variant;NR_111987.1:n.1316G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5947176 G A Variant 297827 RCV000273284;RCV000307384 281573 NPHP4 NM_015102.4:c.1047C>T NP_055917.1:p.Val349= NM_001291593.1:c.-320C>T:5 prime UTR variant;NM_015102.4:c.1047C>T:synonymous variant;NR_111987.1:n.1315C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5947199 G A Variant 281181 RCV000357469 265418 NPHP4 NM_015102.4:c.1024C>T NP_055917.1:p.Arg342Cys NM_001291593.1:c.-343C>T:5 prime UTR variant;NM_015102.4:c.1024C>T:missense variant;NR_111987.1:n.1292C>T:non-coding transcript variant Likely benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5947218 T C Variant 95670 RCV000081703 101567 NPHP4 NM_015102.4:c.1005A>G NP_055917.1:p.Gln335= NM_001291593.1:c.-362A>G:5 prime UTR variant;NM_015102.4:c.1005A>G:synonymous variant;NR_111987.1:n.1273A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5947226 C T Variant 285517 RCV000320446 269754 NPHP4 NM_015102.4:c.997G>A NP_055917.1:p.Gly333Arg NM_001291593.1:c.-370G>A:5 prime UTR variant;NM_015102.4:c.997G>A:missense variant;NR_111987.1:n.1265G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5948117 C T Variant 198869 RCV000180327 196029 NPHP4 NM_015102.4:c.945G>A NP_055917.1:p.Thr315= NM_001291593.1:c.-422G>A:5 prime UTR variant;NM_015102.4:c.945G>A:synonymous variant;NR_111987.1:n.1213G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5948194 C A Variant 291291 RCV000352642 275528 NPHP4 NM_015102.4:c.868G>T NP_055917.1:p.Gly290Cys NM_001291593.1:c.-499G>T:5 prime UTR variant;NM_015102.4:c.868G>T:missense variant;NR_111987.1:n.1136G>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5948242 G C Variant 297828 RCV000267411;RCV000364127 283071 NPHP4 NM_015102.4:c.820C>G NP_055917.1:p.Pro274Ala NM_001291593.1:c.-547C>G:5 prime UTR variant;NM_015102.4:c.820C>G:missense variant;NR_111987.1:n.1088C>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5952710 T A Variant 288173 RCV000296994;RCV000324865;RCV000377050 272410 NPHP4 NM_015102.4:c.800A>T NP_055917.1:p.His267Leu NM_001291593.1:c.-556-4459A>T:intron variant;NM_001291594.1:c.-567A>T:5 prime UTR variant;NM_015102.4:c.800A>T:missense variant;NR_111987.1:n.1068A>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;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 -1 5952721 G A Variant 288804 RCV000291432 273041 NPHP4 NM_015102.4:c.789C>T NP_055917.1:p.His263= NM_001291593.1:c.-556-4470C>T:intron variant;NM_001291594.1:c.-578C>T:5 prime UTR variant;NM_015102.4:c.789C>T:synonymous variant;NR_111987.1:n.1057C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5952797 G T Variant 198564 RCV000179946 195725 NPHP4 NM_015102.4:c.713C>A NP_055917.1:p.Thr238Lys NM_001291593.1:c.-556-4546C>A:intron variant;NM_001291594.1:c.-654C>A:5 prime UTR variant;NM_015102.4:c.713C>A:missense variant;NR_111987.1:n.981C>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5961868 T C Variant 240971 RCV000228425 238344 NPHP4 NM_015102.4:c.599A>G NP_055917.1:p.His200Arg NM_001291593.1:c.-631A>G:5 prime UTR variant;NM_015102.4:c.599A>G:missense variant;NR_111987.1:n.867A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5967305 C T Variant 235474 RCV000224782;RCV000250562 237156 NPHP4 NM_015102.4:c.511G>A NP_055917.1:p.Ala171Thr NM_001291593.1:c.-719G>A:5 prime UTR variant;NM_015102.4:c.511G>A:missense variant;NR_111987.1:n.779G>A:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;PreventionGenetics,PreventionGenetics not provided;not specified;NOT SPECIFIED 25741868 germline MedGen:CN221809;MedGen:CN169374 -1 5967324 G A Variant 215888 RCV000200461 212110 NPHP4 NM_015102.4:c.492C>T NP_055917.1:p.His164= NM_001291593.1:c.-738C>T:5 prime UTR variant;NM_015102.4:c.492C>T:synonymous variant;NR_111987.1:n.760C>T:non-coding transcript variant Likely benign 0 1 0 criteria provided, single submitter 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5967349 T C Variant 297829 RCV000265815;RCV000318634 282783 NPHP4 NM_015102.4:c.467A>G NP_055917.1:p.His156Arg NM_001291593.1:c.-763A>G:5 prime UTR variant;NM_015102.4:c.467A>G:missense variant;NR_111987.1:n.735A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5967390 C T Variant 95687 RCV000081720 101584 NPHP4 NM_015102.4:c.453-27G>A NM_015102.4:c.453-27G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 -1 5969265 G C Variant 260549 RCV000250158 250009 NPHP4 NM_015102.4:c.280-6C>G NM_015102.4:c.280-6C>G:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 -1 5978259 C T Variant 260548 RCV000245616;RCV000278717;RCV000375486 250010 NPHP4 NM_015102.4:c.279+11G>A NM_015102.4:c.279+11G>A:intron variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations 1 PreventionGenetics,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 -1 5978270 C A Variant 196470 RCV000177287 193631 NPHP4 NM_015102.4:c.279G>T NP_055917.1:p.Glu93Asp NM_001291593.1:c.-951G>T:5 prime UTR variant;NM_001291594.1:c.-1087-9011G>T:intron variant;NM_015102.4:c.279G>T:missense variant;NR_111987.1:n.547G>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5978275 T C Variant 286807 RCV000336223;RCV000339486;RCV000388363 271044 NPHP4 NM_015102.4:c.274A>G NP_055917.1:p.Asn92Asp NM_001291593.1:c.-956A>G:5 prime UTR variant;NM_001291594.1:c.-1087-9016A>G:intron variant;NM_015102.4:c.274A>G:missense variant;NR_111987.1:n.542A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;not specified;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 -1 5978278 A G Variant 196471 RCV000177288 193632 NPHP4 NM_015102.4:c.271T>C NP_055917.1:p.Phe91Leu NM_001291593.1:c.-959T>C:5 prime UTR variant;NM_001291594.1:c.-1087-9019T>C:intron variant;NM_015102.4:c.271T>C:missense variant;NR_111987.1:n.539T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified 15776426,21068128,21546380,22550138 germline MedGen:CN169374 -1 5978282 G A Variant 196469 RCV000177286 193630 NPHP4 NM_015102.4:c.267C>T NP_055917.1:p.Ile89= NM_001291593.1:c.-963C>T:5 prime UTR variant;NM_001291594.1:c.-1087-9023C>T:intron variant;NM_015102.4:c.267C>T:synonymous variant;NR_111987.1:n.535C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5978286 C T Variant 289039 RCV000312350 273276 NPHP4 NM_015102.4:c.263G>A NP_055917.1:p.Arg88Lys NM_001291593.1:c.-967G>A:5 prime UTR variant;NM_001291594.1:c.-1087-9027G>A:intron variant;NM_015102.4:c.263G>A:missense variant;NR_111987.1:n.531G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5978292 G A Variant 297830 RCV000296483;RCV000349088 280985 NPHP4 NM_015102.4:c.257C>T NP_055917.1:p.Pro86Leu NM_001291593.1:c.-973C>T:5 prime UTR variant;NM_001291594.1:c.-1087-9033C>T:intron variant;NM_015102.4:c.257C>T:missense variant;NR_111987.1:n.525C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5978416 AG A Variant 220231 RCV000204739;RCV000308778 221112 NPHP4 NM_015102.4:c.136-4delC NM_015102.4:c.136-4delC:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 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 -1 5978425 C G Variant 297831 RCV000347268;RCV000390158 283079 NPHP4 NM_015102.4:c.136-12G>C NM_015102.4:c.136-12G>C:intron variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5986204 G A Variant 260561 RCV000253888;RCV000307502;RCV000359933 250011 NPHP4 NM_015102.4:c.86C>T NP_055917.1:p.Thr29Met NM_001291593.1:c.-1144C>T:5 prime UTR variant;NM_001291594.1:c.-1088+6040C>T:intron variant;NM_015102.4:c.86C>T:missense variant;NR_111987.1:n.354C>T:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 PreventionGenetics,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 -1 5986251 A C Variant 195305 RCV000175868 192466 NPHP4 NM_015102.4:c.39T>G NP_055917.1:p.Leu13= NM_001291593.1:c.-1191T>G:5 prime UTR variant;NM_001291594.1:c.-1088+5993T>G:intron variant;NM_015102.4:c.39T>G:synonymous variant;NR_111987.1:n.307T>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5986281 G A Variant 290374 RCV000316701 274611 NPHP4 NM_015102.4:c.9C>T NP_055917.1:p.Asp3= NM_001291593.1:c.-1221C>T:5 prime UTR variant;NM_001291594.1:c.-1088+5963C>T:intron variant;NM_015102.4:c.9C>T:synonymous variant;NR_111987.1:n.277C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 5986284 G A Variant 297832 RCV000267615;RCV000301621 281583 NPHP4 NM_015102.4:c.6C>T NP_055917.1:p.Asn2= NM_001291593.1:c.-1224C>T:5 prime UTR variant;NM_001291594.1:c.-1088+5960C>T:intron variant;NM_015102.4:c.6C>T:synonymous variant;NR_111987.1:n.274C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5992257 C A Variant 297833 RCV000262067;RCV000359155 283085 NPHP4 NM_015102.4:c.-52G>T NM_015102.4:c.-52G>T:5 prime UTR variant;NR_111987.1:n.217G>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5992295 T A Variant 297834 RCV000319568;RCV000371989 283086 NPHP4 NM_015102.4:c.-90A>T NM_015102.4:c.-90A>T:5 prime UTR variant;NR_111987.1:n.179A>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5992407 G A Variant 297835 RCV000260959;RCV000332443 281588 NPHP4 NM_015102.4:c.-202C>T NM_015102.4:c.-202C>T:5 prime UTR variant;NR_111987.1:n.67C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5992411 G T Variant 297836 RCV000292646;RCV000389299 280988 NPHP4 NM_015102.4:c.-206C>A NM_015102.4:c.-206C>A:5 prime UTR variant;NR_111987.1:n.63C>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5992430 C T Variant 297837 RCV000346570;RCV000384831 282784 NPHP4 NM_015102.4:c.-225G>A NM_015102.4:c.-225G>A:5 prime UTR variant;NR_111987.1:n.44G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5992440 C T Variant 297838 RCV000288159;RCV000345426 281592 NPHP4 NM_015102.4:c.-235G>A NM_015102.4:c.-235G>A:5 prime UTR variant;NR_111987.1:n.34G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5992441 G A Variant 297839 RCV000287021;RCV000400674 283087 NPHP4 NM_015102.4:c.-236C>T NM_015102.4:c.-236C>T:5 prime UTR variant;NR_111987.1:n.33C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 5992442 C G Variant 297840 RCV000339732;RCV000399861 283088 NPHP4 NM_015102.4:c.-237G>C NM_015102.4:c.-237G>C:5 prime UTR variant;NR_111987.1:n.32G>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter 1 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 -1 6098509 A G Variant 218544 RCV000203075 215211 KCNAB2 NM_001199861.1:c.1039A>G NP_001186790.1:p.Ile347Val NM_001199861.1:c.1039A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 -1 6254689 G A Variant 208391 RCV000202336 204612 GPR153 NM_207370.2:c.217C>T NP_997253.2:p.Arg73Cys NM_207370.2:c.217C>T:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter 1 Dr. Guy Rouleau's laboratory,McGill University Childhood-Onset Schizophrenia;Childhood Onset Schizophrenia 26508570 de novo MeSH:D012561;MedGen:C0036346;Office of Rare Diseases:4766 -1 6428268 C T Variant 228670 RCV000217424 228498 ESPN NM_031475.2:c.337C>T NP_113663.2:p.Arg113Cys NM_031475.2:c.337C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6428313 G T Variant 180073 RCV000156876 172590 ESPN NM_031475.2:c.382G>T NP_113663.2:p.Gly128Cys NM_031475.2:c.382G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6428370 G A Variant 179234 RCV000156021 172452 ESPN NM_031475.2:c.439G>A NP_113663.2:p.Ala147Thr NM_031475.2:c.439G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6440984 C G Variant 226636 RCV000219021 228499 ESPN NM_031475.2:c.909C>G NP_113663.2:p.Arg303= NM_031475.2:c.909C>G:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6441006 C A Variant 228671 RCV000221051 228500 ESPN NM_031475.2:c.931C>A NP_113663.2:p.Leu311Met NM_031475.2:c.931C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444506 G A Variant 163411 RCV000150655 172591 ESPN NM_031475.2:c.1016G>A NP_113663.2:p.Arg339Gln NM_031475.2:c.1016G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444515 C T Variant 228668 RCV000220787 228501 ESPN NM_031475.2:c.1025C>T NP_113663.2:p.Ser342Phe NM_031475.2:c.1025C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444538 C T Variant 163412 RCV000150656 172453 ESPN NM_031475.2:c.1048C>T NP_113663.2:p.Pro350Ser NM_031475.2:c.1048C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444539 C G Variant 227356 RCV000218932 228502 ESPN NM_031475.2:c.1049C>G NP_113663.2:p.Pro350Arg NM_031475.2:c.1049C>G:missense variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444559 C T Variant 178607 RCV000155360 172592 ESPN NM_031475.2:c.1069C>T NP_113663.2:p.Pro357Ser NM_031475.2:c.1069C>T:missense variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444570 G A Variant 227357 RCV000223461 228503 ESPN NM_031475.2:c.1080G>A NP_113663.2:p.Thr360= NM_031475.2:c.1080G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444584 C T Variant 179446 RCV000156235 172454 ESPN NM_031475.2:c.1094C>T NP_113663.2:p.Pro365Leu NM_031475.2:c.1094C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444594 T G Variant 163413 RCV000150657 172593 ESPN NM_031475.2:c.1104T>G NP_113663.2:p.Phe368Leu NM_031475.2:c.1104T>G:missense variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6444690 T C Variant 227358 RCV000215895 228504 ESPN NM_031475.2:c.1192+8T>C NM_031475.2:c.1192+8T>C:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6451634 G A Variant 227359 RCV000218825 228505 ESPN NM_031475.2:c.1947G>A NP_113663.2:p.Thr649= NM_031475.2:c.1947G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6451637 C T Variant 226633 RCV000218711 228506 ESPN NM_031475.2:c.1950C>T NP_113663.2:p.Gly650= NM_031475.2:c.1950C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6451713 A G Variant 179396 RCV000156185 172455 ESPN NM_031475.2:c.2026A>G NP_113663.2:p.Thr676Ala NM_031475.2:c.2026A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6451755 G A Variant 226634 RCV000222342 228507 ESPN NM_031475.2:c.2061+7G>A NM_031475.2:c.2061+7G>A:intron variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6451841 G A Variant 226635 RCV000215336 228508 ESPN NM_031475.2:c.2070G>A NP_113663.2:p.Ser690= NM_031475.2:c.2070G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6451891 C T Variant 228669 RCV000213795 228509 ESPN NM_031475.2:c.2120C>T NP_113663.2:p.Pro707Leu NM_031475.2:c.2120C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6451926 A C Variant 4420 RCV000004670 19459 ESPN NM_031475.2:c.2155A>C NP_113663.2:p.Ser719Arg NM_031475.2:c.2155A>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Deafness, without vestibular involvement, autosomal dominant;DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT 15930085 germline MedGen:CN068820 -1 6452001 G A Variant 4421 RCV000004671 19460 ESPN NM_031475.2:c.2230G>A NP_113663.2:p.Asp744Asn NM_031475.2:c.2230G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Deafness, without vestibular involvement, autosomal dominant;DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT 15930085 germline MedGen:CN068820 -1 6452024 C T Variant 227360 RCV000223058 228510 ESPN NM_031475.2:c.2253C>T NP_113663.2:p.Pro751= NM_031475.2:c.2253C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6452028 T C Variant 225044 RCV000210616 226886 ESPN NM_031475.2:c.2257T>C NP_113663.2:p.Trp753Arg NM_031475.2:c.2257T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Ambry Genetics Inborn genetic diseases;MR/ID/DD;Audiologic/Otolaryngologic (child onset);Musculoskeletal/Structural (child onset);Neurologic (child onset) 22947299,23037933,23169492,23619275,23652378,23881473,24022298,24121147,24394680,25356970,25560141,25626707,25730230 germline MeSH:D030342;MedGen:C0950123 -1 6452092 G A Variant 4422 RCV000004672 19461 ESPN NM_031475.2:c.2321G>A NP_113663.2:p.Arg774Gln NM_031475.2:c.2321G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Deafness, without vestibular involvement, autosomal dominant;DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT 15930085 germline MedGen:CN068820 -1 6457275 G A Variant 227361 RCV000216795 228511 ESPN NM_031475.2:c.2405+12G>A NM_031475.2:c.2405+12G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6460085 G A Variant 163414 RCV000150658 172594 ESPN NM_031475.2:c.2504G>A NP_113663.2:p.Ser835Asn NM_031475.2:c.2504G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6460152 G A Variant 227355 RCV000214566 228512 ESPN NM_031475.2:c.*6G>A NM_031475.2:c.*6G>A:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 -1 6466123 G A Variant 297904 RCV000399468 281043 TNFRSF25 NM_020631.4:c.*1440C>T NM_020631.4:c.*1440C>T:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466142 CCGTGCTCT C Variant 297905 RCV000302421 281645 TNFRSF25 NM_020631.4:c.*1413_*1420delAGAGCACG NM_020631.4:c.*1413_*1420delAGAGCACG:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466180 GCGCC G Variant 297906 RCV000361894 281648 TNFRSF25 NM_020631.4:c.*1379_*1382delGGCG NM_020631.4:c.*1379_*1382delGGCG:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466209 A G Variant 297907 RCV000267378 283149 PLEKHG5 NM_020631.4:c.*1354T>C NM_020631.4:c.*1354T>C:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466216 C A Variant 297908 RCV000317801 281650 PLEKHG5 NM_020631.4:c.*1347G>T NM_020631.4:c.*1347G>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466250 G A Variant 297909 RCV000354040 281654 PLEKHG5 NM_020631.4:c.*1313C>T NM_020631.4:c.*1313C>T:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466259 C T Variant 297910 RCV000263899 281658 PLEKHG5 NM_020631.4:c.*1304G>A NM_020631.4:c.*1304G>A:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466274 G C Variant 297911 RCV000318513 282863 PLEKHG5 NM_020631.4:c.*1289C>G NM_020631.4:c.*1289C>G:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466405 C G Variant 297912 RCV000387093 283150 PLEKHG5 NM_020631.4:c.*1158G>C NM_020631.4:c.*1158G>C:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466511 C T Variant 297913 RCV000274419 281660 PLEKHG5 NM_020631.4:c.*1052G>A NM_020631.4:c.*1052G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466547 T C Variant 297914 RCV000334142 283151 PLEKHG5 NM_020631.4:c.*1016A>G NM_020631.4:c.*1016A>G:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466557 G A Variant 297915 RCV000388631 282864 PLEKHG5 NM_020631.4:c.*1006C>T NM_020631.4:c.*1006C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466573 G A Variant 297916 RCV000289591 283153 PLEKHG5 NM_020631.4:c.*990C>T NM_020631.4:c.*990C>T:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466581 T TG Variant 297917 RCV000344475 281044 PLEKHG5 NM_020631.4:c.*981dupC NM_020631.4:c.*981dupC:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466658 C T Variant 297918 RCV000385045 283155 PLEKHG5 NM_020631.4:c.*905G>A NM_020631.4:c.*905G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466720 C A Variant 297919 RCV000284113 283156 PLEKHG5 NM_020631.4:c.*843G>T NM_020631.4:c.*843G>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466762 C T Variant 297920 RCV000339117 281048 PLEKHG5 NM_020631.4:c.*801G>A NM_020631.4:c.*801G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466788 A C Variant 297921 RCV000398989 281661 PLEKHG5 NM_020631.4:c.*775T>G NM_020631.4:c.*775T>G:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466797 TA T Variant 297922 RCV000304183 283165 PLEKHG5 NM_020631.4:c.*765delT NM_020631.4:c.*765delT:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466798 A T Variant 297923 RCV000335455 283157 PLEKHG5 NM_020631.4:c.*765T>A NM_020631.4:c.*765T>A:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466812 AG A Variant 297924 RCV000402408 283172 PLEKHG5 NM_020631.4:c.*750delC NM_020631.4:c.*750delC:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6466866 G A Variant 297925 RCV000300543 282865 PLEKHG5 NM_020631.4:c.*697C>T NM_020631.4:c.*697C>T:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467008 A T Variant 297926 RCV000355377 281663 PLEKHG5 NM_020631.4:c.*555T>A NM_020631.4:c.*555T>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467200 G C Variant 297927 RCV000274872 281666 PLEKHG5 NM_020631.4:c.*363C>G Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467273 A G Variant 297928 RCV000311319 282866 PLEKHG5 NM_020631.4:c.*290T>C NM_020631.4:c.*290T>C:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467371 C T Variant 297929 RCV000370553 282869 PLEKHG5 NM_020631.4:c.*192G>A NM_020631.4:c.*192G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467455 C T Variant 297930 RCV000276085 281049 PLEKHG5 NM_020631.4:c.*108G>A NM_020631.4:c.*108G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467495 G A Variant 297931 RCV000326556 283173 PLEKHG5 NM_020631.4:c.*68C>T NM_020631.4:c.*68C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467536 A G Variant 297932 RCV000381122 281054 PLEKHG5 NM_020631.4:c.*27T>C NM_020631.4:c.*27T>C:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467884 G A Variant 297933 RCV000272719 282872 PLEKHG5 NM_020631.4:c.2952C>T NP_065682.2:p.Thr984= NM_001265594.1:c.2752C>T:missense variant;NM_020631.4:c.2952C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6467936 C A Variant 246207 RCV000236324 244276 PLEKHG5 NM_020631.4:c.2900G>T NP_065682.2:p.Arg967Met NM_001265594.1:c.2738-38G>T:intron variant;NM_020631.4:c.2900G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 6467969 C T Variant 195526 RCV000236844 192687 PLEKHG5 NM_020631.4:c.2867G>A NP_065682.2:p.Arg956Lys NM_001265594.1:c.2738-71G>A:intron variant;NM_020631.4:c.2867G>A:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 -1 6467988 C A Variant 246359 RCV000236991 244277 PLEKHG5 NM_020631.4:c.2848G>T NP_065682.2:p.Ala950Ser NM_001265594.1:c.2738-90G>T:intron variant;NM_020631.4:c.2848G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 6468009 C G Variant 287488 RCV000271172;RCV000327806 271725 PLEKHG5 NM_020631.4:c.2827G>C NP_065682.2:p.Gly943Arg NM_001265594.1:c.2737+90G>C:intron variant;NM_020631.4:c.2827G>C:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:CN169374;MedGen:C0393541;SNOMED CT:230247001 -1 6468034 G A Variant 282038 RCV000263498 266275 PLEKHG5 NM_020631.4:c.2802C>T NP_065682.2:p.Ser934= NM_001265594.1:c.2737+65C>T:intron variant;NM_020631.4:c.2802C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 6468074 TGAG T Variant 297934 RCV000377811 281667 PLEKHG5 NM_020631.4:c.2759_2761delCTC NP_065682.2:p.Pro920del NM_001265594.1:c.2737+22_2737+24delCTC:intron variant;NM_020631.4:c.2759_2761delCTC:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6468090 T G Variant 297935 RCV000284414 281668 PLEKHG5 NM_020631.4:c.2746A>C NP_065682.2:p.Thr916Pro NM_001265594.1:c.2737+9A>C:intron variant;NM_020631.4:c.2746A>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6468116 A G Variant 195527 RCV000176112 192688 PLEKHG5 NM_020631.4:c.2720T>C NP_065682.2:p.Leu907Pro NM_020631.4:c.2720T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 6468145 G A Variant 297936 RCV000341721 283176 PLEKHG5 NM_020631.4:c.2691C>T NP_065682.2:p.Ala897= NM_020631.4:c.2691C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6468202 G A Variant 297937 RCV000379985 282874 PLEKHG5 NM_020631.4:c.2634C>T NP_065682.2:p.Ser878= NM_020631.4:c.2634C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6468224 G A Variant 297938 RCV000278418 283179 PLEKHG5 NM_020631.4:c.2612C>T NP_065682.2:p.Pro871Leu NM_020631.4:c.2612C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6468227 G A Variant 246413 RCV000236354 244278 PLEKHG5 NM_020631.4:c.2609C>T NP_065682.2:p.Pro870Leu NM_020631.4:c.2609C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 6468242 T C Variant 235230 RCV000224958;RCV000312080;RCV000335865 236918 PLEKHG5 NM_020631.4:c.2594A>G NP_065682.2:p.Gln865Arg NM_020631.4:c.2594A>G:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not provided;not specified;Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy 25741868 germline MedGen:CN221809;MedGen:CN169374;MedGen:C0393541;SNOMED CT:230247001 -1 6468254 C T Variant 297939 RCV000395914 282876 PLEKHG5 NM_020631.4:c.2582G>A NP_065682.2:p.Arg861His NM_020631.4:c.2582G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6468260 C T Variant 287487 RCV000300757;RCV000365803 271724 PLEKHG5 NM_020631.4:c.2576G>A NP_065682.2:p.Arg859His NM_020631.4:c.2576G>A:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy;not specified germline MedGen:C0393541;SNOMED CT:230247001;MedGen:CN169374 -1 6468272 G A Variant 195528 RCV000176113 192689 PLEKHG5 NM_020631.4:c.2564C>T NP_065682.2:p.Ser855Leu NM_020631.4:c.2564C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 -1 6468293 C T Variant 297940 RCV000348442 282883 PLEKHG5 NM_020631.4:c.2543G>A NP_065682.2:p.Arg848Gln NM_020631.4:c.2543G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6468311 C T Variant 245769 RCV000235516 244279 PLEKHG5 NM_020631.4:c.2525G>A NP_065682.2:p.Arg842Gln NM_020631.4:c.2525G>A:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts 2 GeneDx;Emory Genetics Laboratory,Emory University not specified;not specified;not specified germline MedGen:CN169374 -1 6468351 C A Variant 297941 RCV000390391 282886 PLEKHG5 NM_020631.4:c.2485G>T NP_065682.2:p.Asp829Tyr NM_020631.4:c.2485G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 -1 6468378 C G Variant 60779 RCV000054546 75318 PLEKHG5 NM_020631.4:c.2458G>C NP_065682.2:p.Gly820Arg NM_020631.4:c.2458G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided 0 OMIM Charcot-Marie-Tooth disease, recessive intermediate c;CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C 23844677 Adult <1 / 1 000 000 germline MedGen:C3809309;OMIM:615376;Orphanet:369867 -1 6468378 C T Variant 234692 RCV000221669 231498 PLEKHG5 NM_001265593.1:c.2665G>A NP_001252522.1:p.Gly889Ser NM_020631.4:c.2458G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter 1 GeneDx not specified;not specified germline MedGen:CN169374 -1 6468379 G A Variant 297942 RCV000313474 282891 PLEKHG5 NM_020631.4:c.2457C>T NP_065682.2:p.Tyr819= NM_020631.4:c.2457C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +chrom pos ref alt measureset_type measureset_id rcv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance pathogenic benign conflicted review_status last_evaluated gold_stars all_submitters all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs +1 1014143 C T Variant 183381 RCV000162196 181485 ISG15 NM_005101.3:c.163C>T NP_005092.1:p.Gln55Ter NM_005101.3:c.163C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided Jan 01, 2015 0 OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 +1 1014316 C CG Variant 161455 RCV000148989 171289 ISG15 NM_005101.3:c.339dupG NP_005092.1:p.Leu114Alafs NM_005101.3:c.339dupG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jan 01, 2015 0 OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 1,22859821,25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 +1 1014359 G T Variant 161454 RCV000148988 171288 ISG15 NM_005101.3:c.379G>T NP_005092.1:p.Glu127Ter NM_005101.3:c.379G>T:nonsense Pathogenic 1 0 0 no assertion criteria provided Jan 01, 2015 0 OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 22859821,25307056 Childhood <1 / 1 000 000 germline MedGen:CN221808;OMIM:616126;Orphanet:319563 +1 1020217 G T Variant 128310 RCV000116272 133759 AGRN NM_198576.3:c.45G>T NP_940978.2:p.Pro15= NM_198576.3:c.45G>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 29, 2014 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1020239 G C Variant 210112 RCV000193277 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Sep 29, 2014 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1022188 A G Variant 263166 RCV000250556 249265 AGRN NM_198576.3:c.202-13A>G NM_198576.3:c.202-13A>G:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1022225 G A Variant 243036 RCV000235037 244110 AGRN NM_198576.3:c.226G>A NP_940978.2:p.Gly76Ser NM_198576.3:c.226G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 14, 2016 0 GeneReviews Congenital myasthenic syndrome 20301347,24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1022260 C T Variant 128296 RCV000116258 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1022313 A T Variant 243037 RCV000235021 244111 AGRN NM_198576.3:c.314A>T NP_940978.2:p.Asn105Ile NM_198576.3:c.314A>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 14, 2016 0 GeneReviews Congenital myasthenic syndrome 20301347,24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1040679 C T Variant 210111 RCV000195231 206691 AGRN NM_198576.3:c.526C>T NP_940978.2:p.Leu176= NM_198576.3:c.526C>T:synonymous variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Oct 28, 2014 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1041174 C G Variant 263202 RCV000241878 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1041183 C T Variant 263203 RCV000246662 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1041218 C T Variant 263204 RCV000249809 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1041249 C T Variant 128320 RCV000116282 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Aug 15, 2013 1 Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified 18414213 germline MedGen:CN169374 +1 1041582 C T Variant 126556 RCV000114428;RCV000235030 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided Jul 14, 2016 0 OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 22205389;20301347 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590;GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1041583 A G Variant 128291 RCV000116253 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Likely benign 0 1 0 no assertion criteria provided - 0 Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified germline MedGen:CN169374 +1 1041648 G T Variant 263158 RCV000243499;RCV000430046 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Sep 14, 2015 2 PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 +1 1041950 T C Variant 128292 RCV000116254 133741 AGRN NM_198576.3:c.1178-6T>C NM_198576.3:c.1178-6T>C:intron variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 15, 2013 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1042136 T TC Variant 243038 RCV000235036 244112 AGRN NM_198576.3:c.1362dupC NP_940978.2:p.Ser455GlnfsTer8 NM_198576.3:c.1362dupC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jul 14, 2016 0 GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1042190 G A Variant 263159 RCV000251375 249309 AGRN NM_198576.3:c.1384+28G>A NM_198576.3:c.1384+28G>A:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1043223 CCT C Variant 263160 RCV000244801 249310 AGRN NM_198576.3:c.1385-15_1385-14delCT NM_198576.3:c.1385-15_1385-14delCT:intron variant Benign 0 1 0 criteria provided, single submitter Jan 27, 2016 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1043248 C T Variant 263161 RCV000249555 249311 AGRN NM_198576.3:c.1394C>T NP_940978.2:p.Pro465Leu NM_198576.3:c.1394C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1043288 G A Variant 263162 RCV000254334 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1043382 G A Variant 263163 RCV000244472 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1043476 G A Variant 263164 RCV000249242 249314 AGRN NM_198576.3:c.1603+19G>A NM_198576.3:c.1603+19G>A:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1043594 G A Variant 263165 RCV000254010 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1044017 G A Variant 210106 RCV000192681 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Apr 30, 2014 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 18414213,25741868 germline MedGen:CN169374 +1 1044134 C G Variant 128293 RCV000116255 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1044176 G A Variant 263167 RCV000245482 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1044368 A T Variant 128294 RCV000116256 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 15, 2013 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1044455 G A Variant 263168 RCV000242021 249317 AGRN NM_198576.3:c.2254+16G>A NM_198576.3:c.2254+16G>A:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045172 G A Variant 263169 RCV000245180 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045177 G A Variant 263170 RCV000249944 249319 AGRN NM_198576.3:c.2271G>A NP_940978.2:p.Pro757= NM_198576.3:c.2271G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045393 C T Variant 128295 RCV000116257 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045444 G C Variant 190974 RCV000246474 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Sep 28, 2016 2 Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045460 C T Variant 210107 RCV000194095 206693 AGRN NM_198576.3:c.2473C>T NP_940978.2:p.Arg825Cys NM_198576.3:c.2473C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 14, 2015 1 Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 +1 1045568 C T Variant 263171 RCV000252843 249320 AGRN NM_198576.3:c.2536+45C>T NM_198576.3:c.2536+45C>T:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045707 A G Variant 263172 RCV000243014 249321 AGRN NM_198576.3:c.2537-26A>G NM_198576.3:c.2537-26A>G:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045751 A G Variant 263173 RCV000247794 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045785 G A Variant 263174 RCV000252551 249323 AGRN NM_198576.3:c.2589G>A NP_940978.2:p.Thr863= NM_198576.3:c.2589G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045948 C G Variant 263175 RCV000249068 249324 AGRN NM_198576.3:c.2681-16C>G NM_198576.3:c.2681-16C>G:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045965 C T Variant 263176 RCV000252248 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1045973 C T Variant 235570 RCV000224244 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 21, 2015 1 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 +1 1046079 C T Variant 263177 RCV000244043 249326 AGRN NM_198576.3:c.2796C>T NP_940978.2:p.Asn932= NM_198576.3:c.2796C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1046488 C T Variant 263178 RCV000248800 249327 AGRN NM_198576.3:c.3003C>T NP_940978.2:p.Pro1001= NM_198576.3:c.3003C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1046551 A G Variant 128297 RCV000116259 133746 AGRN NM_198576.3:c.3066A>G NP_940978.2:p.Ser1022= NM_198576.3:c.3066A>G:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 15, 2013 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1046562 C A Variant 263179 RCV000245361 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1046833 G C Variant 128298 RCV000116260;RCV000431747 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,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 +1 1046976 G A Variant 263180 RCV000253262 249329 AGRN NM_198576.3:c.3388+19G>A NM_198576.3:c.3388+19G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1047342 A G Variant 128299 RCV000116261 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1047403 T C Variant 128300 RCV000116262 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1047464 G C Variant 128301 RCV000116263 133750 AGRN NM_198576.3:c.3516+10G>C NM_198576.3:c.3516+10G>C:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Sep 28, 2016 2 Genetic Services Laboratory, University of Chicago;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1047561 T C Variant 263181 RCV000246305 249331 AGRN NM_198576.3:c.3517-12T>C NM_198576.3:c.3517-12T>C:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1047614 T C Variant 128302 RCV000116264 133751 AGRN NM_198576.3:c.3558T>C NP_940978.2:p.Phe1186= NM_198576.3:c.3558T>C:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 15, 2013 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1047626 C T Variant 128303 RCV000116265 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1047863 C T Variant 263182 RCV000247622 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1047876 C T Variant 210108 RCV000195120 206694 AGRN NM_198576.3:c.3732C>T NP_940978.2:p.His1244= NM_198576.3:c.3732C>T:synonymous variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Aug 06, 2014 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1048006 C T Variant 210109 RCV000192787 206695 AGRN NM_198576.3:c.3752-6C>T NM_198576.3:c.3752-6C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 12, 2015 1 Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 +1 1048126 C T Variant 128304 RCV000116266 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1048224 C T Variant 128305 RCV000116267 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1048232 G A Variant 128306 RCV000116268 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1048877 C T Variant 210110 RCV000193826 206696 AGRN NM_198576.3:c.4116C>T NP_940978.2:p.Ala1372= NM_198576.3:c.4116C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter May 04, 2015 1 Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 +1 1048922 T C Variant 128307 RCV000116269 133756 AGRN NM_198576.3:c.4161T>C NP_940978.2:p.Thr1387= NM_198576.3:c.4161T>C:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 15, 2013 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1049046 C T Variant 263183 RCV000248636 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049070 A T Variant 263184 RCV000251783 249334 AGRN NM_198576.3:c.4298+11A>T NM_198576.3:c.4298+11A>T:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049289 C T Variant 263185 RCV000243502 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049389 C T Variant 128308 RCV000116270 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049467 G C Variant 263186 RCV000253016 249336 AGRN NM_198576.3:c.4514+16G>C NM_198576.3:c.4514+16G>C:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1049569 G A Variant 263187 RCV000244907 249337 AGRN NM_198576.3:c.4518G>A NP_940978.2:p.Ala1506= NM_198576.3:c.4518G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049591 G A Variant 128309 RCV000116271 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049690 G A Variant 252808 RCV000238604 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 18, 2015 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx not specified;not specified;not specified germline;unknown MedGen:CN169374 +1 1049791 C T Variant 128311 RCV000116273 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1049886 C T Variant 263188 RCV000250964 249338 AGRN NM_198576.3:c.4745-17C>T NM_198576.3:c.4745-17C>T:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1049927 GCCCCTGCCAGCCCAA G Variant 291137 RCV000296346 275374 AGRN NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA NP_940978.2:p.Gln1593_Cys1597del NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 06, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1049997 C T Variant 263189 RCV000254107 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1050027 C A Variant 282708 RCV000405008 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 14, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1050054 T A Variant 263190 RCV000245933 249340 AGRN NM_198576.3:c.4879+17T>A NM_198576.3:c.4879+17T>A:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1050066 G T Variant 263191 RCV000250684 249341 AGRN NM_198576.3:c.4879+29G>T NM_198576.3:c.4879+29G>T:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1050069 G A Variant 263192 RCV000242423 249342 AGRN NM_198576.3:c.4879+32G>A NM_198576.3:c.4879+32G>A:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1050417 A G Variant 263193 RCV000247197 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1050446 G A Variant 128312 RCV000116274 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1050473 G A Variant 243039 RCV000235025 244113 AGRN NM_198576.3:c.5023G>A NP_940978.2:p.Gly1675Ser NM_198576.3:c.5023G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 14, 2016 0 GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1050475 C T Variant 263194 RCV000242085 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1050520 C T Variant 128313 RCV000116275 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 15, 2013 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1050575 G C Variant 18241 RCV000019902;RCV000235029 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 14, 2016 0 OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 19631309;19631309,20301347 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590;GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1050763 G T Variant 126555 RCV000114427;RCV000235038 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 14, 2016 0 OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 22205389;20301347,22205389 Infancy 1-9 / 1 000 000 germline MedGen:C3808739;OMIM:615120;Orphanet:590;GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1050785 G A Variant 263195 RCV000251658 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1051336 C T Variant 263196 RCV000246601 249346 AGRN NM_198576.3:c.5337C>T NP_940978.2:p.Ala1779= NM_198576.3:c.5337C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1051351 C T Variant 263197 RCV000252836 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1051352 G A Variant 128314 RCV000116276;RCV000244639 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Aug 23, 2013 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not provided;not specified;NOT SPECIFIED 18414213;25741868 germline MedGen:CN221809;MedGen:CN169374 +1 1051357 T C Variant 128315 RCV000116277 133764 AGRN NM_198576.3:c.5358T>C NP_940978.2:p.Gly1786= NM_198576.3:c.5358T>C:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1051380 G A Variant 263198 RCV000254171 249348 AGRN NM_198576.3:c.5370+11G>A NM_198576.3:c.5370+11G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1051762 C T Variant 128316 RCV000116278 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1051775 G A Variant 243040 RCV000235024 244114 AGRN NM_198576.3:c.5611G>A NP_940978.2:p.Gly1871Arg NM_198576.3:c.5611G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 14, 2016 0 GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 +1 1051811 G A Variant 263199 RCV000249073 249349 AGRN NM_198576.3:c.5647G>A NP_940978.2:p.Glu1883Lys NM_198576.3:c.5647G>A:missense variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1051820 C T Variant 128317 RCV000116279 133766 AGRN NM_198576.3:c.5651+5C>T NM_198576.3:c.5651+5C>T:intron variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 15, 2013 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1053827 G C Variant 128318 RCV000116280 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Likely benign 0 1 0 criteria provided, single submitter - 1 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1054431 C A Variant 263200 RCV000250424 249351 AGRN NM_198576.3:c.5877-17C>A NM_198576.3:c.5877-17C>A:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1054897 G A Variant 263201 RCV000253570 249352 AGRN NM_198576.3:c.6054G>A NP_940978.2:p.Arg2018= NM_198576.3:c.6054G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 1054900 C T Variant 128319 RCV000116281 133768 AGRN NM_198576.3:c.6057C>T NP_940978.2:p.Asp2019= NM_198576.3:c.6057C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 15, 2013 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213,25741868 germline MedGen:CN169374 +1 1055000 C T Variant 263157 RCV000252490 249353 AGRN NM_198576.3:c.*19C>T NM_198576.3:c.*19C>T:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 1213738 G A Variant 96692 RCV000082860 102585 TNFRSF4 NM_003327.3:c.193C>T NP_003318.1:p.Arg65Cys NM_003327.3:c.193C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Aug 26, 2013 0 OMIM IMMUNODEFICIENCY 16 (1 patient);IMMUNODEFICIENCY 16 (1 patient) 23897980 germline OMIM:600315.0001 +1 1232279 A G Variant 60484 RCV000054390 75079 B3GALT6 NM_080605.3:c.1A>G NP_542172.2:p.Met1Val NM_080605.3:c.1A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 +1 1232294 C T Variant 60493 RCV000054399 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 +1 1232300 T G Variant 193479 RCV000173551 190643 B3GALT6 NM_080605.3:c.22T>G NP_542172.2:p.Trp8Gly NM_080605.3:c.22T>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 05, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1232416 C T Variant 193478 RCV000173550 190642 B3GALT6 NM_080605.3:c.138C>T NP_542172.2:p.Ser46= NM_080605.3:c.138C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Feb 10, 2015 1 Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 +1 1232458 A G Variant 288791 RCV000380808 273028 B3GALT6 NM_080605.3:c.180A>G NP_542172.2:p.Ala60= NM_080605.3:c.180A>G:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 21, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1232471 A G Variant 60488 RCV000054394 75083 B3GALT6 NM_080605.3:c.193A>G NP_542172.2:p.Ser65Gly NM_080605.3:c.193A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 +1 1232478 C T Variant 60489 RCV000054395 75084 B3GALT6 NM_080605.3:c.200C>T NP_542172.2:p.Pro67Leu NM_080605.3:c.200C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 +1 1232630 GA G Variant 60490 RCV000054396 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 +1 1232684 GTGCTGGCCA G Variant 60494 RCV000054400 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 +1 1232744 G A Variant 60486 RCV000054392 75081 B3GALT6 NM_080605.3:c.466G>A NP_542172.2:p.Asp156Asn NM_080605.3:c.466G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 +1 1232793 C T Variant 373234 RCV000413594 359211 B3GALT6 NM_080605.3:c.515C>T NP_542172.2:p.Ala172Val NM_080605.3:c.515C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 25, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 1232800 G C Variant 281204 RCV000287240 265441 B3GALT6 NM_080605.3:c.522G>C NP_542172.2:p.Glu174Asp NM_080605.3:c.522G>C:missense variant Benign 0 1 0 criteria provided, single submitter Mar 04, 2016 1 Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 +1 1232859 CG C Variant 60492 RCV000054398 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 +1 1232865 G T Variant 281706 RCV000408441 265943 B3GALT6 NM_080605.3:c.587G>T NP_542172.2:p.Gly196Val NM_080605.3:c.587G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 25, 2015 1 Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 +1 1232897 G C Variant 60495 RCV000054401 75090 B3GALT6 NM_080605.3:c.619G>C NP_542172.2:p.Asp207His NM_080605.3:c.619G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 +1 1232927 G A Variant 60496 RCV000054402 75091 B3GALT6 NM_080605.3:c.649G>A NP_542172.2:p.Gly217Ser NM_080605.3:c.649G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 +1 1232972 C T Variant 60485 RCV000054391 75080 B3GALT6 NM_080605.3:c.694C>T NP_542172.2:p.Arg232Cys NM_080605.3:c.694C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 +1 1232977 C T Variant 290128 RCV000295132 274365 B3GALT6 NM_080605.3:c.699C>T NP_542172.2:p.Asp233= NM_080605.3:c.699C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 05, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1233031 G A Variant 283369 RCV000266846 267606 B3GALT6 NM_080605.3:c.753G>A NP_542172.2:p.Pro251= NM_080605.3:c.753G>A:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Oct 04, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1233112 G A Variant 283589 RCV000389593 267826 B3GALT6 NM_080605.3:c.834G>A NP_542172.2:p.Thr278= NM_080605.3:c.834G>A:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Oct 08, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1233131 G A Variant 283597 RCV000360273 267834 B3GALT6 NM_080605.3:c.853G>A NP_542172.2:p.Asp285Asn NM_080605.3:c.853G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Oct 08, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1233177 G C Variant 60487 RCV000054393 75082 B3GALT6 NM_080605.3:c.899G>C NP_542172.2:p.Cys300Ser NM_080605.3:c.899G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 Infancy <1 / 1 000 000 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 +1 1233187 G A Variant 193477 RCV000173549 190641 B3GALT6 NM_080605.3:c.909G>A NP_542172.2:p.Glu303= NM_080605.3:c.909G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Feb 10, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 1233203 T A Variant 60491 RCV000054397 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jun 06, 2013 0 OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 Childhood <1 / 1 000 000 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 +1 1338000 CT C Variant 208047 RCV000193819 204306 DVL1 NM_004421.2:c.1615delA NP_004412.2:p.Ser539Alafs NM_004421.2:c.1615delA:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Jul 30, 2015 1 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338033 TAGGCAGG C Variant 208050 RCV000194315 204307 DVL1 NM_004421.2:c.1576_1583delCCTGCCTAinsG NP_004412.2:p.Pro526Alafs NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jul 30, 2015 0 OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 22431878,25817014 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338045 AA G Variant 208043 RCV000192810 204308 DVL1 NM_004421.2:c.1570_1571delTTinsC NP_004412.2:p.Phe524Profs NM_004421.2:c.1570_1571delTTinsC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Jul 30, 2015 1 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 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338053 TG T Variant 208049 RCV000193267 204309 DVL1 NM_004421.2:c.1562delC NP_004412.2:p.Pro521Hisfs NM_004421.2:c.1562delC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jul 30, 2015 0 OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 25045061,25817014 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338086 AC A Variant 208048 RCV000195217 204310 DVL1 NM_004421.2:c.1529delG NP_004412.2:p.Gly510Valfs NM_004421.2:c.1529delG:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Jul 30, 2015 1 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086,24088041,25817016 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338092 AG A Variant 219223 RCV000208706 217239 DVL1 NM_004421.2:c.1522delC NP_004412.2:p.Pro508Leufs NM_004421.2:c.1522delC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Dec 01, 2015 1 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 23806086,24088041,26924530 Infancy <1 / 1 000 000 de novo Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338096 CA C Variant 208045 RCV000195250 204311 DVL1 NM_004421.2:c.1519delT NP_004412.2:p.Trp507Glyfs NM_004421.2:c.1519delT:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Jul 30, 2015 1 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 23806086,24088041,25045061,25817014,25817016 Infancy <1 / 1 000 000 germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338098 GGGGGCAGCCGGGT G Variant 208044 RCV000193850 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Jul 30, 2015 1 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 23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338107 CG C Variant 208046 RCV000192930 204313 DVL1 NM_004421.2:c.1508delC NP_004412.2:p.Pro503Argfs NM_004421.2:c.1508delC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Jul 30, 2015 1 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 10319206,23806086,24088041,25817016 Infancy <1 / 1 000 000 de novo;germline Genetics Home Reference:robinow-syndrome;MedGen:CN229715;OMIM:616331;Orphanet:3107;Orphanet:97360 +1 1338529 G GGCATTGGC Variant 373812 RCV000413003 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic 1 0 0 criteria provided, single submitter Dec 08, 2016 1 GeneDx not provided;Not Provided germline MedGen:CN221809 +1 1512426 C T Variant 225697 RCV000412620 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 1 0 0 no assertion criteria provided Nov 29, 2016 0 OMIM HAREL-YOON SYNDROME;HAREL-YOON SYNDROME, AUTOSOMAL RECESSIVE 27640307 germline MedGen:CN239114;OMIM:612316.0001;OMIM:617183 +1 1529299 C T Variant 225696 RCV000412539 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Nov 29, 2016 0 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine HAREL-YOON SYNDROME;HAREL-YOON SYNDROME 27640307 de novo;unknown MedGen:CN239114;OMIM:612316.0001;OMIM:617183 +1 1535370 G A Variant 161196 RCV000148348 171043 TMEM240 NM_001114748.1:c.511C>T NP_001108220.1:p.Arg171Trp NM_001114748.1:c.511C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Oct 01, 2014 0 OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 +1 1535372 G A Variant 161192 RCV000148344;RCV000322616 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter Nov 26, 2015 1 OMIM;GeneDx Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21;not provided;Not Provided 11160961,20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773;MedGen:CN221809 +1 1535392 G C Variant 161193 RCV000148345 171040 TMEM240 NM_001114748.1:c.489C>G NP_001108220.1:p.Tyr163Ter NM_001114748.1:c.489C>G:nonsense Pathogenic 1 0 0 no assertion criteria provided Oct 01, 2014 0 OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 +1 1535589 C T Variant 373233 RCV000413204 359223 TMEM240 NM_001114748.1:c.373G>A NP_001108220.1:p.Asp125Asn NM_001114748.1:c.373G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 22, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 1535616 G A Variant 161194 RCV000148346 171041 TMEM240 NM_001114748.1:c.346C>T NP_001108220.1:p.Arg116Cys NM_001114748.1:c.346C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Oct 01, 2014 0 OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 +1 1535723 G A Variant 161195 RCV000148347 171042 TMEM240 NM_001114748.1:c.239C>T NP_001108220.1:p.Thr80Met NM_001114748.1:c.239C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Oct 01, 2014 0 OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888,20301317,25070513 Adolescent <1 / 1 000 000 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 +1 1535766 C T Variant 372833 RCV000413958 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter Jan 27, 2016 1 GeneDx not provided;Not Provided germline MedGen:CN221809 +1 1615612 C A Variant 218832 RCV000202894 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 0 1 0 criteria provided, single submitter Jun 11, 2015 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 +1 1787378 C T Variant 224718 RCV000210260 226495 GNB1 NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr NM_002074.4:c.976G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 10, 2016 0 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Muscular hypotonia 21956720 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 +1 1804548 T C Variant 224717 RCV000210283;RCV000225171;RCV000480671 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Aug 08, 2016 0 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:CN236792;OMIM:616973;MedGen:CN221809 +1 1804565 A G Variant 224716 RCV000210270 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 1 0 0 no assertion criteria provided Feb 10, 2016 0 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 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 +1 1806503 A G Variant 208722 RCV000190738;RCV000208571;RCV000210259;RCV000225179;RCV000225295;RCV000418135 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;Uncertain significance 1 0 0 criteria provided, conflicting interpretations Aug 08, 2016 1 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;20301334,21956720,25485910;21956720;25485910,27108799 Autosomal dominant inheritance;Somatic mutation All ages 1-9 / 100 000 germline;de novo;unknown;somatic MeSH:D030342;MedGen:C0950123;GeneReviews:NBK1155;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:CN236792;OMIM:616973;Genetic Alliance:Myelodysplastic+syndromes/5021;Genetic Testing Registry (GTR):GTR000501848;Genetic Testing Registry (GTR):GTR000508338;Genetic Testing Registry (GTR):GTR000518980;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520187;Genetic Testing Registry (GTR):GTR000520395;Genetic Testing Registry (GTR):GTR000521830;Genetic Testing Registry (GTR):GTR000525847;Genetic Testing Registry (GTR):GTR000525900;Genetic Testing Registry (GTR):GTR000525905;Genetic Testing Registry (GTR):GTR000527980;Genetic Testing Registry (GTR):GTR000528909;Genetic Testing Registry (GTR):GTR000529055;Genetic Testing Registry (GTR):GTR000529137;Genetic Testing Registry (GTR):GTR000530327;Genetic Testing Registry (GTR):GTR000530631;Genetic Testing Registry (GTR):GTR000531723;Genetic Testing Registry (GTR):GTR000531726;Genetic Testing Registry (GTR):GTR000552115;MeSH:D009190;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688;MedGen:CN221809 +1 1806503 A T Variant 224715 RCV000210280;RCV000225195;RCV000225283 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 1 0 0 no assertion criteria provided Aug 08, 2016 0 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;25485910,27108799 All ages 1-9 / 100 000 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:CN236792;OMIM:616973;Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 +1 1806509 T C Variant 224714 RCV000210269;RCV000225134 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 1 0 0 no assertion criteria provided Aug 08, 2016 0 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:CN236792;OMIM:616973 +1 1806513 C T Variant 224713 RCV000210256 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 1 0 0 no assertion criteria provided Feb 10, 2016 0 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Global developmental delay;Muscular hypotonia 21956720 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 +1 1806514 A C Variant 224712 RCV000210277 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 1 0 0 no assertion criteria provided Feb 10, 2016 0 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 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 +1 1806515 T C Variant 224711 RCV000210265;RCV000225254;RCV000225357 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 1 0 0 no assertion criteria provided Aug 08, 2016 0 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;25485910,27108799 All ages 1-9 / 100 000 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:CN236792;OMIM:616973;Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 +1 2024923 G A Variant 256824 RCV000245842 249668 GABRD NM_000815.4:c.69-19G>A NM_000815.4:c.69-19G>A:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2025020 C T Variant 374418 RCV000416042 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 31, 2016 1 Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809 +1 2025598 T C Variant 256823 RCV000254456 249669 GABRD NM_000815.4:c.330T>C NP_000806.2:p.Gly110= NM_000815.4:c.330T>C:synonymous variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2027636 A C Variant 16212 RCV000017598 31251 GABRD NM_000815.4:c.530A>C NP_000806.2:p.Glu177Ala NM_000815.4:c.530A>C:missense variant risk factor 0 0 0 no assertion criteria provided Jul 01, 2004 0 OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO 15115768 germline MedGen:C3150401;OMIM:613060 +1 2028260 G A Variant 16213 RCV000017599;RCV000017600;RCV000022558 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor 0 0 0 no assertion criteria provided Jun 01, 2005 0 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 MedGen:C3150401;OMIM:613060;MedGen:C2751604;OMIM:137163.0002;Genetic Alliance:Epilepsy%2C+idiopathic+generalized+10/8327;MedGen:C2751603 +1 2028269 C T Variant 218470 RCV000203171 215187 GABRD NM_000815.4:c.668C>T NP_000806.2:p.Thr223Met NM_000815.4:c.668C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 14, 2015 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 +1 2029194 G A Variant 235308 RCV000224860 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 01, 2016 1 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 +1 2029235 C T Variant 256825 RCV000248963 249670 GABRD NM_000815.4:c.816C>T NP_000806.2:p.Ser272= NM_000815.4:c.816C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2029969 C T Variant 256822 RCV000249647 249671 GABRD NM_000815.4:c.1060-14C>T NM_000815.4:c.1060-14C>T:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2030031 G A Variant 375540 RCV000417018 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 16, 2016 1 Neurogenetics Laboratory - MEYER,AOU Meyer Epileptic encephalopathy 25741868 unknown Human Phenotype Ontology:HP:0200134;MedGen:C0543888 +1 2228828 T G Variant 224869 RCV000210450 226716 SKI NM_003036.3:c.62T>G NP_003027.1:p.Leu21Arg NM_003036.3:c.62T>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter - 1 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454,23023332 Infancy <1 / 1 000 000 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 +1 2228860 C G Variant 37259 RCV000030817 45849 SKI NM_003036.3:c.94C>G NP_003027.1:p.Leu32Val NM_003036.3:c.94C>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter Feb 01, 2015 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230,24736733 Infancy <1 / 1 000 000 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 +1 2228865 C G Variant 139112 RCV000173298;RCV000226611 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 07, 2016 2 GeneDx;Emory Genetics Laboratory,Emory University;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,PreventionGenetics;Invitae not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 24033266,25741868;20301454 Infancy <1 / 1 000 000 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 +1 2228866 G A Variant 37261 RCV000030819;RCV000200686 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Feb 01, 2015 2 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 Infancy <1 / 1 000 000 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 +1 2228866 G T Variant 37262 RCV000030820 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Apr 18, 2014 2 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230 Infancy <1 / 1 000 000 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 +1 2228867 G A Variant 37260 RCV000030818 45850 SKI NM_003036.3:c.101G>A NP_003027.1:p.Gly34Asp NM_003036.3:c.101G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter Feb 01, 2015 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,24736733 Infancy <1 / 1 000 000 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 +1 2228867 G T Variant 39783 RCV000033005 48382 SKI NM_003036.3:c.101G>T NP_003027.1:p.Gly34Val NM_003036.3:c.101G>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 01, 2015 0 OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230,24736733 Infancy <1 / 1 000 000 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 +1 2228869 C T Variant 39786 RCV000033008 48385 SKI NM_003036.3:c.103C>T NP_003027.1:p.Pro35Ser NM_003036.3:c.103C>T:missense variant Pathogenic 1 0 0 criteria provided, single submitter Feb 01, 2015 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332,23103230,24736733 Infancy <1 / 1 000 000 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 +1 2228870 C A Variant 39785 RCV000033007 48384 SKI NM_003036.3:c.104C>A NP_003027.1:p.Pro35Gln NM_003036.3:c.104C>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Nov 02, 2012 0 OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2228904 C T Variant 213665 RCV000198300 209445 SKI NM_003036.3:c.138C>T NP_003027.1:p.Ala46= NM_003036.3:c.138C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Jan 06, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2228951 C G Variant 139113 RCV000128047 142816 SKI NM_003036.3:c.185C>G NP_003027.1:p.Ala62Gly NM_003036.3:c.185C>G:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 20, 2015 2 GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,PreventionGenetics not specified;not specified;Not specified;NOT SPECIFIED 24033266,25741868 germline MedGen:CN169374 +1 2228982 C T Variant 193249 RCV000204079;RCV000225703;RCV000242995 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jan 07, 2016 1 Invitae;Emory Genetics Laboratory,Emory University;GeneDx;PreventionGenetics,PreventionGenetics;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 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-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 +1 2229005 A AGCC Variant 264471 RCV000250462 257939 SKI NM_003036.3:c.249_251dupGCC NP_003027.1:p.Pro84_Val85insPro NM_003036.3:c.249_251dupGCC:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 10, 2015 1 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 +1 2229045 GTCCGACCGC G Variant 37263 RCV000030821 45853 SKI NM_003036.3:c.283_291delGACCGCTCC NP_003027.1:p.Asp95_Ser97del NM_003036.3:c.283_291delGACCGCTCC:inframe_variant Pathogenic 1 0 0 criteria provided, single submitter Nov 01, 2012 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332 Infancy <1 / 1 000 000 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 +1 2229045 GTCCGACCGCTCC G Variant 39784 RCV000033006 48383 SKI NM_003036.3:c.280_291delTCCGACCGCTCC NP_003027.1:p.Ser94_Ser97del NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant Pathogenic 1 0 0 no assertion criteria provided Nov 02, 2012 0 OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23103230 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2229060 C T Variant 213681 RCV000198732;RCV000254475;RCV000467477 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 11, 2015 2 PreventionGenetics,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 Infancy <1 / 1 000 000 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 +1 2229077 T C Variant 264417 RCV000246817 257941 SKI NM_003036.3:c.311T>C NP_003027.1:p.Val104Ala NM_003036.3:c.311T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 17, 2015 1 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 +1 2229078 A T Variant 227947 RCV000215560 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Aug 11, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 2229113 G A Variant 37258 RCV000030816 45848 SKI NM_003036.3:c.347G>A NP_003027.1:p.Gly116Glu NM_003036.3:c.347G>A:missense variant Pathogenic 1 0 0 criteria provided, single submitter Nov 01, 2012 1 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454,23023332 Infancy <1 / 1 000 000 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 +1 2229115 G C Variant 224868 RCV000210472 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic 1 0 0 criteria provided, single submitter - 1 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454,23023332 Infancy <1 / 1 000 000 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 +1 2229118 G A Variant 222819 RCV000208203 224190 SKI NM_003036.3:c.352G>A NP_003027.1:p.Glu118Lys NM_003036.3:c.352G>A:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter Oct 22, 2015 1 Blueprint Genetics Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2229126 C T Variant 213682 RCV000200253;RCV000461600 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter May 06, 2015 1 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2229159 G A Variant 264423 RCV000254423 257943 SKI NM_003036.3:c.393G>A NP_003027.1:p.Leu131= NM_003036.3:c.393G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Oct 04, 2015 1 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 +1 2229183 C T Variant 213683 RCV000196335;RCV000234780 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 27, 2016 2 GeneDx;PreventionGenetics,PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 Infancy <1 / 1 000 000 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 +1 2229222 C T Variant 139111 RCV000128045;RCV000228536;RCV000245385 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 29, 2016 2 GeneDx;PreventionGenetics,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 Infancy <1 / 1 000 000 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 +1 2229230 C G Variant 373594 RCV000413541;RCV000461900 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 29, 2016 1 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2229237 G A Variant 239478 RCV000232451;RCV000247169 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 27, 2016 2 Invitae;PreventionGenetics,PreventionGenetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED 20301454;25741868 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-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 +1 2229253 G A Variant 239479 RCV000234052 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 12, 2016 1 Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2229261 C T Variant 258901 RCV000250311 249732 SKI NM_003036.3:c.495C>T NP_003027.1:p.Gly165= NM_003036.3:c.495C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2229265 CT GG Variant 213703 RCV000200337 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter Aug 08, 2016 1 GeneDx not provided;Not Provided germline MedGen:CN221809 +1 2229305 C T Variant 213684 RCV000198523 209451 SKI NM_003036.3:c.539C>T NP_003027.1:p.Thr180Met NM_003036.3:c.539C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 07, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2229391 C A Variant 264172 RCV000242214 257942 SKI NM_003036.3:c.625C>A NP_003027.1:p.Leu209Met NM_003036.3:c.625C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 24, 2015 1 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 +1 2229406 A G Variant 213685 RCV000200824 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 21, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2229564 C T Variant 193248 RCV000225717;RCV000243648;RCV000465929 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Mar 06, 2015 1 Emory Genetics Laboratory,Emory University;GeneDx;PreventionGenetics,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 Infancy <1 / 1 000 000 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 +1 2229565 C T Variant 213663 RCV000200723;RCV000228953 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Dec 25, 2015 2 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2229610 C A Variant 264492 RCV000251439 257944 SKI NM_003036.3:c.844C>A NP_003027.1:p.Arg282= NM_003036.3:c.844C>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Nov 06, 2015 1 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 +1 2229685 G A Variant 213686 RCV000196881 209454 SKI NM_003036.3:c.919G>A NP_003027.1:p.Val307Met NM_003036.3:c.919G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 17, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2229704 A G Variant 213687 RCV000199076 209455 SKI NM_003036.3:c.938A>G NP_003027.1:p.Tyr313Cys NM_003036.3:c.938A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 02, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2229714 G A Variant 213664 RCV000196098;RCV000231718 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 15, 2016 2 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2229730 C T Variant 264199 RCV000252076 257945 SKI NM_003036.3:c.964C>T NP_003027.1:p.Pro322Ser NM_003036.3:c.964C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 14, 2015 1 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 +1 2302971 A G Variant 289941 RCV000284270 274178 SKI NM_003036.3:c.970-7A>G NM_003036.3:c.970-7A>G:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 26, 2016 1 Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 +1 2303008 C T Variant 213688 RCV000198950 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter May 29, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303041 G A Variant 213666 RCV000200606;RCV000474882 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Dec 21, 2015 1 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2303078 G A Variant 213689 RCV000195711 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 18, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303089 G A Variant 222820 RCV000208423 224191 SKI NM_003036.3:c.1081G>A NP_003027.1:p.Gly361Ser NM_003036.3:c.1081G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Jul 01, 2015 1 Blueprint Genetics not specified;not specified germline MedGen:CN169374 +1 2303328 G A Variant 213690 RCV000197996 209461 SKI NM_003036.3:c.1139G>A NP_003027.1:p.Arg380Gln NM_003036.3:c.1139G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 16, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303351 G A Variant 213667 RCV000197343 209462 SKI NM_003036.3:c.1162G>A NP_003027.1:p.Ala388Thr NM_003036.3:c.1162G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 29, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303352 C T Variant 213668 RCV000198871;RCV000204037;RCV000436746 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 27, 2016 2 GeneDx;PreventionGenetics,PreventionGenetics;Invitae;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;not provided 25741868;20301454 Infancy <1 / 1 000 000 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 +1 2303372 C T Variant 213691 RCV000198841 209464 SKI NM_003036.3:c.1183C>T NP_003027.1:p.Pro395Ser NM_003036.3:c.1183C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 02, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303385 C T Variant 213692 RCV000195594;RCV000227742 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Aug 24, 2016 1 GeneDx;PreventionGenetics,PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 Infancy <1 / 1 000 000 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 +1 2303410 C T Variant 213669 RCV000200400;RCV000470601 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign 0 1 0 criteria provided, single submitter Feb 04, 2015 1 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2303411 G A Variant 213670 RCV000197227 209467 SKI NM_003036.3:c.1211+11G>A NM_003036.3:c.1211+11G>A:intron variant Benign 0 1 0 criteria provided, single submitter Aug 08, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303417 C T Variant 258899 RCV000248676 249763 SKI NM_003036.3:c.1211+17C>T NM_003036.3:c.1211+17C>T:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2303419 C T Variant 258900 RCV000251824 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 2303832 C T Variant 213671 RCV000199440;RCV000415889 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Aug 31, 2016 1 GeneDx;PreventionGenetics,PreventionGenetics;Praxis fuer Humangenetik Tuebingen, not specified;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 +1 2303871 G A Variant 222821 RCV000208100 224192 SKI NM_003036.3:c.1243G>A NP_003027.1:p.Val415Met NM_003036.3:c.1243G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 01, 2015 1 Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 +1 2303875 C T Variant 213693 RCV000197794 209469 SKI NM_003036.3:c.1247C>T NP_003027.1:p.Ala416Val NM_003036.3:c.1247C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 06, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303886 G A Variant 220793 RCV000205977 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Oct 28, 2015 1 Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2303891 C T Variant 263904 RCV000252813 257947 SKI NM_003036.3:c.1263C>T NP_003027.1:p.Leu421= NM_003036.3:c.1263C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Feb 04, 2015 1 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 +1 2303892 G A Variant 213707 RCV000196970 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Oct 20, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303929 C T Variant 213694 RCV000200090 209471 SKI NM_003036.3:c.1301C>T NP_003027.1:p.Pro434Leu NM_003036.3:c.1301C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 09, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2303937 G A Variant 263895 RCV000251995;RCV000474123 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Oct 29, 2015 1 Ambry Genetics,;Invitae Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 20301299,24882528,25173340;20301454 Infancy <1 / 1 000 000 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 +1 2303939 C G Variant 227946 RCV000221218;RCV000462719 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Aug 11, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454 Infancy <1 / 1 000 000 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 +1 2303939 C T Variant 139114 RCV000128048;RCV000229389;RCV000249261 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 29, 2016 2 GeneDx;PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University;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 Infancy <1 / 1 000 000 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 +1 2303966 C T Variant 213672 RCV000195511 209472 SKI NM_003036.3:c.1338C>T NP_003027.1:p.Leu446= NM_003036.3:c.1338C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Jun 18, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304038 C T Variant 213673 RCV000197717;RCV000458443 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Jun 22, 2015 1 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2304048 C G Variant 373583 RCV000413715 359238 SKI NM_003036.3:c.1420C>G NP_003027.1:p.Pro474Ala NM_003036.3:c.1420C>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 06, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304074 G A Variant 139115 RCV000178187;RCV000233299;RCV000249175 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 07, 2016 2 GeneDx;Emory Genetics Laboratory,Emory University;PreventionGenetics,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 Infancy <1 / 1 000 000 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 +1 2304084 G A Variant 229252 RCV000218491 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 11, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 2304298 T A Variant 373745 RCV000414146;RCV000460773 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 12, 2016 1 GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2304345 C T Variant 213674 RCV000199331;RCV000245139 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 24, 2015 2 GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;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 +1 2304346 G A Variant 213695 RCV000195482 209475 SKI NM_003036.3:c.1528G>A NP_003027.1:p.Ala510Thr NM_003036.3:c.1528G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 26, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304373 C T Variant 213696 RCV000197672 209476 SKI NM_003036.3:c.1555C>T NP_003027.1:p.Arg519Cys NM_003036.3:c.1555C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 11, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304374 G A Variant 213675 RCV000196080 209477 SKI NM_003036.3:c.1556G>A NP_003027.1:p.Arg519His NM_003036.3:c.1556G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Dec 04, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304386 C T Variant 180522 RCV000157499 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Uncertain significance 0 0 0 no assertion criteria provided Oct 06, 2014 0 Blueprint Genetics Arterial dissection;Arterial dissection germline Human Phenotype Ontology:HP:0005294;MedGen:C0002949;MedGen:CN004695 +1 2304391 G A Variant 213676 RCV000197599 209478 SKI NM_003036.3:c.1573G>A NP_003027.1:p.Val525Ile NM_003036.3:c.1573G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Jul 17, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304398 ATGC A Variant 213704 RCV000197075 209479 SKI NM_003036.3:c.1584_1586delTGC NP_003027.1:p.Ala530del NM_003036.3:c.1584_1586delTGC:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter May 05, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304411 T C Variant 213677 RCV000199803;RCV000466338 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jul 01, 2015 2 GeneDx;PreventionGenetics,PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 Infancy <1 / 1 000 000 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 +1 2304437 C T Variant 213697 RCV000199881 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 30, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304450 C T Variant 213678 RCV000196639 209482 SKI NM_003036.3:c.1632C>T NP_003027.1:p.His544= NM_003036.3:c.1632C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Jul 31, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2304591 C T Variant 239476 RCV000227068 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 21, 2015 1 Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2306086 C T Variant 139116 RCV000179418;RCV000230962;RCV000243796 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Nov 30, 2015 2 GeneDx;Emory Genetics Laboratory,Emory University;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics,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 Infancy <1 / 1 000 000 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 +1 2306103 G A Variant 198156 RCV000179419;RCV000473994 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter Apr 02, 2015 1 Emory Genetics Laboratory,Emory University;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 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 +1 2306122 GAGA G Variant 213705 RCV000198612 209485 SKI NM_003036.3:c.1877_1879delAGA NP_003027.1:p.Lys626del NM_003036.3:c.1877_1879delAGA:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter May 06, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2306129 A T Variant 213698 RCV000196715 209484 SKI NM_003036.3:c.1877A>T NP_003027.1:p.Lys626Met NM_003036.3:c.1877A>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 21, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2306142 C T Variant 198155 RCV000246302 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Nov 12, 2014 1 Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 2306223 C T Variant 239477 RCV000233767 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Dec 25, 2015 1 Invitae Shprintzen-Goldberg syndrome 20301454 Infancy <1 / 1 000 000 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 +1 2306226 C T Variant 139117 RCV000179417;RCV000227524 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 27, 2016 2 GeneDx;Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 Infancy <1 / 1 000 000 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 +1 2306585 C G Variant 213699 RCV000198240;RCV000230294;RCV000243311 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Dec 14, 2015 1 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 Infancy <1 / 1 000 000 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 +1 2306634 G A Variant 213709 RCV000195941 209487 SKI NM_003036.3:c.2056G>A NP_003027.1:p.Ala686Thr NM_003036.3:c.2056G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 01, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2306706 T C Variant 213710 RCV000196830 209488 SKI NM_003036.3:c.2128T>C NP_003027.1:p.Trp710Arg NM_003036.3:c.2128T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 20, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2306719 G A Variant 213679 RCV000197481 209489 SKI NM_003036.3:c.2141G>A NP_003027.1:p.Arg714His NM_003036.3:c.2141G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Jul 23, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2306731 C G Variant 213680 RCV000199684 209490 SKI NM_003036.3:c.2153C>G NP_003027.1:p.Ala718Gly NM_003036.3:c.2153C>G:missense variant Likely benign 0 1 0 criteria provided, single submitter Aug 11, 2014 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2306752 A C Variant 213700 RCV000199766 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 27, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2306761 C T Variant 213701 RCV000196525 209492 SKI NM_003036.3:c.2183C>T NP_003027.1:p.Pro728Leu NM_003036.3:c.2183C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 08, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 2306765 GATT G Variant 222822 RCV000208246 224193 SKI NM_003036.3:c.*1_*3delATT NM_003036.3:c.*1_*3delATT:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 01, 2015 1 Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 +1 2404912 C T Variant 296252 RCV000386642 281775 PEX10 NM_153818.1:c.*854G>A NM_153818.1:c.*854G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2404928 G A Variant 296253 RCV000292328 280463 PEX10 NM_153818.1:c.*838C>T NM_153818.1:c.*838C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2404931 G A Variant 296254 RCV000347311 280132 PEX10 NM_153818.1:c.*835C>T NM_153818.1:c.*835C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2404968 G A Variant 296255 RCV000399261 280466 PEX10 NM_153818.1:c.*798C>T NM_153818.1:c.*798C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2404984 G T Variant 296256 RCV000289447 280467 PEX10 NM_153818.1:c.*782C>A NM_153818.1:c.*782C>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405021 G GC Variant 296257 RCV000344391 280468 PEX10 NM_153818.1:c.*744dupG NM_153818.1:c.*744dupG:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405034 C T Variant 296258 RCV000393898 280469 PEX10 NM_153818.1:c.*732G>A NM_153818.1:c.*732G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405078 C A Variant 296259 RCV000304680 280133 PEX10 NM_153818.1:c.*688G>T NM_153818.1:c.*688G>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405139 G A Variant 296260 RCV000359322 280471 PEX10 NM_153818.1:c.*627C>T NM_153818.1:c.*627C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405172 G A Variant 296261 RCV000391549 280134 PEX10 NM_153818.1:c.*594C>T NM_153818.1:c.*594C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405267 C T Variant 296262 RCV000301075 281924 PEX10 NM_153818.1:c.*499G>A NM_153818.1:c.*499G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405346 C T Variant 296263 RCV000355852 281926 PEX10 NM_153818.1:c.*420G>A NM_153818.1:c.*420G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405356 C T Variant 296264 RCV000261428 281776 PEX10 NM_153818.1:c.*410G>A NM_153818.1:c.*410G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405414 C T Variant 296265 RCV000316672 280473 PEX10 NM_153818.1:c.*352G>A NM_153818.1:c.*352G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405456 C T Variant 296266 RCV000371318 281778 PEX10 NM_153818.1:c.*310G>A NM_153818.1:c.*310G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405462 G A Variant 296267 RCV000276599 281935 PEX10 NM_153818.1:c.*304C>T NM_153818.1:c.*304C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405593 C T Variant 296268 RCV000331913 280474 PEX10 NM_153818.1:c.*173G>A NM_153818.1:c.*173G>A:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405675 T C Variant 296269 RCV000386410 281936 PEX10 NM_153818.1:c.*91A>G NM_153818.1:c.*91A>G:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405750 C T Variant 296270 RCV000292051 281780 PEX10 NM_153818.1:c.*16G>A NM_153818.1:c.*16G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405755 C T Variant 262787 RCV000245274;RCV000328360 249840 PEX10 NM_153818.1:c.*11G>A NM_153818.1:c.*11G>A:3 prime UTR variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405756 G A Variant 296271 RCV000380777 280479 PEX10 NM_153818.1:c.*10C>T NM_153818.1:c.*10C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405770 C T Variant 296272 RCV000286286 281940 PEX10 NM_153818.1:c.1037G>A NP_722540.1:p.Arg346His NM_153818.1:c.1037G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2405813 C T Variant 288707 RCV000358263 272944 PEX10 NM_153818.1:c.994G>A NP_722540.1:p.Glu332Lys NM_153818.1:c.994G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 09, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2405815 C T Variant 162433 RCV000149811 172124 PEX10 NM_153818.1:c.992G>A NP_722540.1:p.Arg331Gln NM_153818.1:c.992G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Jan 12, 2015 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 +1 2405832 C T Variant 286858 RCV000393024 271095 PEX10 NM_153818.1:c.975G>A NP_722540.1:p.Ala325= NM_153818.1:c.975G>A:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 09, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2405838 C T Variant 262791 RCV000251204;RCV000341363 249841 PEX10 NM_153818.1:c.973-4G>A NM_153818.1:c.973-4G>A:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2406500 G A Variant 283862 RCV000398333;RCV000403122 268099 PEX10 NM_153818.1:c.956C>T NP_722540.1:p.Ala319Val NM_153818.1:c.956C>T:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Zellweger syndrome;Zellweger Syndrome;not specified 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN169374 +1 2406526 G C Variant 6771 RCV000007173 21810 PEX10 NM_153818.1:c.930C>G NP_722540.1:p.His310Gln NM_153818.1:c.930C>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Aug 01, 1998 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 9683594 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 +1 2406527 T TC Variant 197886 RCV000179026 195047 PEX10 NM_153818.1:c.927_928insG NP_722540.1:p.His310Alafs NM_153818.1:c.927_928insG:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Feb 04, 2015 1 Emory Genetics Laboratory,Emory University Peroxisome biogenesis disorder 6A Neonatal germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 +1 2406553 C T Variant 262790 RCV000247875;RCV000282889 249842 PEX10 NM_153818.1:c.903G>A NP_722540.1:p.Arg301= NM_153818.1:c.903G>A:synonymous variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2406558 G A Variant 286808 RCV000407787 271045 PEX10 NM_153818.1:c.898C>T NP_722540.1:p.Arg300Cys NM_153818.1:c.898C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 22, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2406561 C A Variant 282334 RCV000289565 266571 PEX10 NM_153818.1:c.895G>T NP_722540.1:p.Glu299Ter NM_153818.1:c.895G>T:nonsense Pathogenic 1 0 0 criteria provided, single submitter Aug 12, 2015 1 Emory Genetics Laboratory,Emory University Peroxisome biogenesis disorder 6A Neonatal germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 +1 2406566 A G Variant 162432 RCV000149810 172123 PEX10 NM_153818.1:c.890T>C NP_722540.1:p.Leu297Pro NM_153818.1:c.890T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Jan 12, 2015 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411,6 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 +1 2406576 T C Variant 197887 RCV000179027 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Nov 23, 2014 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified;NOT SPECIFIED;not specified 24033266,25741868 germline MedGen:CN169374 +1 2406580 C A Variant 289743 RCV000264178 273980 PEX10 NM_153818.1:c.876G>T NP_722540.1:p.Leu292= NM_153818.1:c.876G>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 27, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2406580 CAG C Variant 296273 RCV000337969;RCV000409050;RCV000411962 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Aug 16, 2016 2 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;12794690 Autosomal recessive inheritance Neonatal 1-9 / 100 000 germline;unknown GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;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 +1 2406584 G A Variant 289191 RCV000281616 273428 PEX10 NM_153818.1:c.872C>T NP_722540.1:p.Pro291Leu NM_153818.1:c.872C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 30, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2406585 G T Variant 286993 RCV000388149 271230 PEX10 NM_153818.1:c.871C>A NP_722540.1:p.Pro291Thr NM_153818.1:c.871C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 05, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2406712 G A Variant 296274 RCV000400274 280483 PEX10 NM_153818.1:c.836+8C>T NM_153818.1:c.836+8C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2406719 C G Variant 225040 RCV000210672 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic 1 0 0 criteria provided, single submitter - 1 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 +1 2406723 C T Variant 290110 RCV000268088 274347 PEX10 NM_153818.1:c.833G>A NP_722540.1:p.Arg278His NM_153818.1:c.833G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 31, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2406736 C T Variant 296275 RCV000297739 281804 PEX10 NM_153818.1:c.820G>A NP_722540.1:p.Gly274Ser NM_153818.1:c.820G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2406766 G A Variant 162435 RCV000149813 172126 PEX10 NM_153818.1:c.790C>T NP_722540.1:p.Arg264Ter NM_153818.1:c.790C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided Jan 12, 2015 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 +1 2406784 C G Variant 197385 RCV000178398 194546 PEX10 NM_153818.1:c.772G>C NP_722540.1:p.Gly258Arg NM_153818.1:c.772G>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 04, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2406785 G A Variant 296276 RCV000354897 280485 PEX10 NM_153818.1:c.771C>T NP_722540.1:p.Tyr257= NM_153818.1:c.771C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2406791 C CT Variant 6774 RCV000007176;RCV000149808;RCV000324305 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic 1 0 0 criteria provided, multiple submitters, no conflicts Jul 22, 2016 2 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 Neonatal 1-9 / 100 000 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 +1 2406811 C G Variant 296277 RCV000408360;RCV000425126 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Zellweger syndrome;Zellweger Syndrome;not provided 20301621;25741868 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN221809 +1 2406855 C T Variant 291156 RCV000343088 275393 PEX10 NM_153818.1:c.701G>A NP_722540.1:p.Arg234His NM_153818.1:c.701G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 08, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2406885 C T Variant 197386 RCV000178399;RCV000315166 194547 PEX10 NM_153818.1:c.671G>A NP_722540.1:p.Arg224His NM_153818.1:c.671G>A:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2406970 C T Variant 296278 RCV000367525 281805 PEX10 NM_153818.1:c.601-15G>A NM_153818.1:c.601-15G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408451 C T Variant 6770 RCV000007172 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic 1 0 0 no assertion criteria provided Aug 01, 1998 0 OMIM Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 9683594 Neonatal germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 +1 2408497 G A Variant 296279 RCV000275159 281806 PEX10 NM_153818.1:c.555C>T NP_722540.1:p.His185= NM_153818.1:c.555C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408557 G A Variant 196588 RCV000177416 193749 PEX10 NM_153818.1:c.495C>T NP_722540.1:p.Phe165= NM_153818.1:c.495C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Sep 06, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2408606 G A Variant 289259 RCV000378264 273496 PEX10 NM_153818.1:c.446C>T NP_722540.1:p.Thr149Met NM_153818.1:c.446C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 05, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2408634 C G Variant 296280 RCV000309150 281810 PEX10 NM_153818.1:c.418G>C NP_722540.1:p.Gly140Arg NM_153818.1:c.418G>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408679 G A Variant 6772 RCV000007174 21811 PEX10 NM_153818.1:c.373C>T NP_722540.1:p.Arg125Ter NM_153818.1:c.373C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided Aug 01, 1998 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 9683594 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 +1 2408700 G A Variant 371748 RCV000410037;RCV000411504 357074 PEX10 NM_153818.1:c.352C>T NP_722540.1:p.Gln118Ter NM_153818.1:c.352C>T:nonsense Likely pathogenic 1 0 0 criteria provided, single submitter Oct 21, 2016 1 Counsyl Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B 10862081,21031596,25525159 Neonatal 1-9 / 100 000 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 +1 2408713 CA C Variant 235465 RCV000224922 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic 1 0 0 criteria provided, single submitter Jan 11, 2016 1 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 +1 2408714 AG A Variant 162431 RCV000149809 172122 PEX10 NM_153818.1:c.337delC NP_722540.1:p.Leu113Trpfs NM_153818.1:c.337delC:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Jan 12, 2015 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411,8982949 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 +1 2408719 G A Variant 289556 RCV000356298 273793 PEX10 NM_153818.1:c.333C>T NP_722540.1:p.Leu111= NM_153818.1:c.333C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 15, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2408734 C T Variant 262789 RCV000249703;RCV000366305 249843 PEX10 NM_153818.1:c.318G>A NP_722540.1:p.Leu106= NM_153818.1:c.318G>A:synonymous variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408736 G A Variant 296281 RCV000269378 280503 PEX10 NM_153818.1:c.316C>T NP_722540.1:p.Leu106= NM_153818.1:c.316C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408761 T C Variant 129884 RCV000117902;RCV000326499 135330 PEX10 NM_153818.1:c.291A>G NP_722540.1:p.Thr97= NM_153818.1:c.291A>G:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;AllHighlyPenetrant;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408761 TG CA Variant 291010 RCV000356893 275247 PEX10 NM_153818.1:c.290_291delCAinsTG NP_722540.1:p.Thr97Met NM_153818.1:c.290_291delCAinsTG:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 09, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 2408772 C T Variant 296282 RCV000378821 281811 PEX10 NM_153818.1:c.280G>A NP_722540.1:p.Val94Met NM_153818.1:c.280G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408773 G A Variant 129883 RCV000117901;RCV000267822 135329 PEX10 NM_153818.1:c.279C>T NP_722540.1:p.Gly93= NM_153818.1:c.279C>T:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Genetic Services Laboratory, University of Chicago;PreventionGenetics,PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;AllHighlyPenetrant;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408777 C T Variant 296283 RCV000320556 281812 PEX10 NM_153818.1:c.275G>A NP_722540.1:p.Arg92His NM_153818.1:c.275G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2408863 G A Variant 262788 RCV000250225;RCV000377774 249844 PEX10 NM_153818.1:c.194-5C>T NM_153818.1:c.194-5C>T:intron variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 Autosomal recessive inheritance Neonatal germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2412497 G C Variant 284321 RCV000280964;RCV000370857 268558 PEX10 NM_153818.1:c.6C>G NP_722540.1:p.Ala2= NM_153818.1:c.6C>G:synonymous variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Zellweger syndrome;Zellweger Syndrome;not specified 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN169374 +1 2412501 A G Variant 162434 RCV000149812 172125 PEX10 NM_153818.1:c.2T>C NP_722540.1:p.Met1Thr NM_153818.1:c.2T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Jan 12, 2015 0 OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 1-9 / 100 000 germline MedGen:C3553948;OMIM:614871;Orphanet:44 +1 2412502 T C Variant 280002 RCV000341916 263985 PEX10 NM_153818.1:c.1A>G NP_722540.1:p.Met1Val NM_153818.1:c.1A>G:missense variant Pathogenic 1 0 0 criteria provided, single submitter Nov 25, 2015 1 GeneDx not provided;Not Provided germline MedGen:CN221809 +1 2412552 CCA C Variant 296284 RCV000338225 281942 PEX10 NM_153818.1:c.-52_-51delTG NM_153818.1:c.-52_-51delTG:5 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 Autosomal recessive inheritance Neonatal germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetic Testing Registry (GTR):GTR000552033;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 +1 2556714 A G Variant 135349 RCV000122164 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 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559013 C T Variant 133394 RCV000119896 137133 TNFRSF14 NM_003820.3:c.304+545C>T NM_003820.3:c.304+545C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559074 C G Variant 133395 RCV000119897 137134 TNFRSF14 NM_003820.3:c.304+606C>G NM_003820.3:c.304+606C>G:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559092 C T Variant 133396 RCV000119898 137135 TNFRSF14 NM_003820.3:c.304+624C>T NM_003820.3:c.304+624C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559110 C T Variant 133397 RCV000119899 137136 TNFRSF14 NM_003820.3:c.304+642C>T NM_003820.3:c.304+642C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559169 A G Variant 133398 RCV000119900 137137 TNFRSF14 NM_003820.3:c.305-654A>G NM_003820.3:c.305-654A>G:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559170 T C Variant 133399 RCV000119901 137138 TNFRSF14 NM_003820.3:c.305-653T>C NM_003820.3:c.305-653T>C:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559347 C T Variant 133400 RCV000119902 137139 TNFRSF14 NM_003820.3:c.305-476C>T NM_003820.3:c.305-476C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559361 G T Variant 133401 RCV000119903 137140 TNFRSF14 NM_003820.3:c.305-462G>T NM_003820.3:c.305-462G>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559422 G T Variant 133402 RCV000119904 137141 TNFRSF14 NM_003820.3:c.305-401G>T NM_003820.3:c.305-401G>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559426 T A Variant 133403 RCV000119905 137142 TNFRSF14 NM_003820.3:c.305-397T>A NM_003820.3:c.305-397T>A:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559459 C A Variant 133404 RCV000119906 137143 TNFRSF14 NM_003820.3:c.305-364C>A NM_003820.3:c.305-364C>A:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559495 C A Variant 133405 RCV000119907 137144 TNFRSF14 NM_003820.3:c.305-328C>A NM_003820.3:c.305-328C>A:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559503 C A Variant 133406 RCV000119908 137145 TNFRSF14 NM_003820.3:c.305-320C>A NM_003820.3:c.305-320C>A:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559515 C T Variant 133407 RCV000119909 137146 TNFRSF14 NM_003820.3:c.305-308C>T NM_003820.3:c.305-308C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559574 C T Variant 133408 RCV000119910 137147 TNFRSF14 NM_003820.3:c.305-249C>T NM_003820.3:c.305-249C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559622 G A Variant 133409 RCV000119911 137148 TNFRSF14 NM_003820.3:c.305-201G>A NM_003820.3:c.305-201G>A:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559632 C G Variant 133410 RCV000119912 137149 TNFRSF14 NM_003820.3:c.305-191C>G NM_003820.3:c.305-191C>G:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559632 C T Variant 133411 RCV000119913 137150 TNFRSF14 NM_003820.3:c.305-191C>T NM_003820.3:c.305-191C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559652 G A Variant 133412 RCV000119914 137151 TNFRSF14 NM_003820.3:c.305-171G>A NM_003820.3:c.305-171G>A:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559725 G A Variant 133413 RCV000119915 137152 TNFRSF14 NM_003820.3:c.305-98G>A NM_003820.3:c.305-98G>A:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559764 CCC ACT Variant 133415 RCV000119917 137154 TNFRSF14 NM_003820.3:c.305-59_305-57delCCCinsACT NM_003820.3:c.305-59_305-57delCCCinsACT:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559766 C T Variant 133414 RCV000119916 137153 TNFRSF14 NM_003820.3:c.305-57C>T NM_003820.3:c.305-57C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559866 C T Variant 135350 RCV000122165 139089 TNFRSF14 NM_003820.3:c.348C>T NP_003811.2:p.Asn116= NM_003820.3:c.348C>T:synonymous variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559867 G A Variant 135353 RCV000122168 139092 TNFRSF14 NM_003820.3:c.349G>A NP_003811.2:p.Ala117Thr NM_003820.3:c.349G>A:missense variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559923 C T Variant 135351 RCV000122166 139090 TNFRSF14 NM_003820.3:c.405C>T NP_003811.2:p.Cys135= NM_003820.3:c.405C>T:synonymous variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2559926 C T Variant 135352 RCV000122167 139091 TNFRSF14 NM_003820.3:c.408C>T NP_003811.2:p.Ala136= NM_003820.3:c.408C>T:synonymous variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2560684 G A Variant 135354 RCV000122169 139093 TNFRSF14 NM_003820.3:c.521G>A NP_003811.2:p.Gly174Glu NM_003820.3:c.521G>A:missense variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2561507 AG A Variant 133416 RCV000119918 137155 TNFRSF14 NM_003820.3:c.552-165delG NM_003820.3:c.552-165delG:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2561533 C T Variant 133417 RCV000119919 137156 TNFRSF14 NM_003820.3:c.552-140C>T NM_003820.3:c.552-140C>T:intron variant not provided 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2561679 C G Variant 91954 RCV000122511 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 0 0 0 no assertion criteria provided - 0 Richard Lifton Laboratory, Yale University School of Medicine not provided;not provided somatic MedGen:CN221809 +1 2562891 G A Variant 135355 RCV000122170 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 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2563206 C T Variant 135356 RCV000122171 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 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 2563218 C T Variant 135357 RCV000122172 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 0 0 0 no assertion provided Sep 19, 2013 0 ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 +1 3069246 C A Variant 228319 RCV000214266 228411 PRDM16 NM_022114.3:c.-14C>A NM_022114.3:c.-14C>A:5 prime UTR variant not provided 0 0 0 no assertion provided Apr 07, 2016 0 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified germline MedGen:CN169374 +1 3186110 C T Variant 227038 RCV000222776 228410 PRDM16 NM_022114.3:c.38-15C>T NM_022114.3:c.38-15C>T:intron variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3186111 G A Variant 229168 RCV000219133 228412 PRDM16 NM_022114.3:c.38-14G>A NM_022114.3:c.38-14G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 14, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3186187 G A Variant 227857 RCV000215109;RCV000228623 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 19, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3186229 G A Variant 241420 RCV000234327;RCV000430883 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Nov 17, 2015 1 Invitae;GeneDx Left ventricular noncompaction 8;not specified All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 +1 3186288 G A Variant 227864 RCV000220218;RCV000228859 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 25, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3186480 C T Variant 227039 RCV000216479;RCV000464355 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign 0 1 0 criteria provided, single submitter Jun 10, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3244128 C T Variant 227040 RCV000219941 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3385157 C T Variant 227041 RCV000213616 228417 PRDM16 NM_022114.3:c.444C>T NP_071397.3:p.Ser148= NM_022114.3:c.444C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Mar 04, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3385266 A G Variant 235271 RCV000224254 236958 PRDM16 NM_022114.3:c.553A>G NP_071397.3:p.Met185Val NM_022114.3:c.553A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 11, 2016 1 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 +1 3396544 C T Variant 227042 RCV000217911;RCV000470033 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3396574 A C Variant 227872 RCV000217723 228419 PRDM16 NM_022114.3:c.657A>C NP_071397.3:p.Thr219= NM_022114.3:c.657A>C:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Apr 01, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3402828 C A Variant 227874 RCV000214448 228420 PRDM16 NM_022114.3:c.714C>A NP_071397.3:p.Leu238= NM_022114.3:c.714C>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3402897 C T Variant 227043 RCV000220870;RCV000228241 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 27, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3402936 C T Variant 227875 RCV000217462 228423 PRDM16 NM_022114.3:c.822C>T NP_071397.3:p.Gly274= NM_022114.3:c.822C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3402981 G A Variant 229169 RCV000223395 228425 PRDM16 NM_022114.3:c.867G>A NP_071397.3:p.Met289Ile NM_022114.3:c.867G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 14, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3402986 C T Variant 60728 RCV000054522 75288 PRDM16 NM_022114.3:c.872C>T NP_071397.3:p.Pro291Leu NM_022114.3:c.872C>T:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 11, 2013 0 OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 +1 3405533 C T Variant 221025 RCV000204192;RCV000220538 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Nov 02, 2015 2 Invitae;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Left ventricular noncompaction 8;not specified;Not specified 24033266 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 +1 3405543 G A Variant 229155 RCV000213682 228426 PRDM16 NM_022114.3:c.1081G>A NP_071397.3:p.Val361Met NM_022114.3:c.1081G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 08, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3405555 G T Variant 229156 RCV000216650 228427 PRDM16 NM_022114.3:c.1093G>T NP_071397.3:p.Ala365Ser NM_022114.3:c.1093G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter May 28, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3405575 C T Variant 227022 RCV000214207;RCV000475757 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3405578 G A Variant 227858 RCV000219433 228428 PRDM16 NM_022114.3:c.1116G>A NP_071397.3:p.Gly372= NM_022114.3:c.1116G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Jun 10, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3405596 C G Variant 227859 RCV000222431;RCV000463379 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Mar 24, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411374 G C Variant 229157 RCV000221026 228431 PRDM16 NM_022114.3:c.1187-10G>C NM_022114.3:c.1187-10G>C:intron variant Uncertain significance 0 0 0 criteria provided, single submitter May 26, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3411409 G A Variant 227023 RCV000217174;RCV000230341 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Nov 17, 2015 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411522 G A Variant 373356 RCV000414577 359261 PRDM16 NM_022114.3:c.1325G>A NP_071397.3:p.Arg442Gln NM_022114.3:c.1325G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 21, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 3411560 G A Variant 227860 RCV000214839 228433 PRDM16 NM_022114.3:c.1363G>A NP_071397.3:p.Gly455Ser NM_022114.3:c.1363G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Nov 24, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3411623 C T Variant 227024 RCV000221460;RCV000474106 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411715 G A Variant 227025 RCV000214308;RCV000461808 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411734 G A Variant 241421 RCV000228195 238269 PRDM16 NM_022114.3:c.1537G>A NP_071397.3:p.Gly513Ser NM_022114.3:c.1537G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 28, 2016 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411765 A AC Variant 280120 RCV000365162 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic 1 0 0 criteria provided, single submitter Feb 08, 2016 1 GeneDx not provided;Not Provided germline MedGen:CN221809 +1 3411771 G A Variant 229158 RCV000213365 228436 PRDM16 NM_022114.3:c.1574G>A NP_071397.3:p.Arg525Gln NM_022114.3:c.1574G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 26, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3411775 G A Variant 227861 RCV000219165;RCV000470998 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Jan 22, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411794 T C Variant 227026 RCV000217271 228438 PRDM16 NM_022114.3:c.1597T>C NP_071397.3:p.Ser533Pro NM_022114.3:c.1597T>C:missense variant Benign 0 1 0 criteria provided, single submitter Mar 04, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3411829 C T Variant 241422 RCV000232157 238270 PRDM16 NM_022114.3:c.1632C>T NP_071397.3:p.Asp544= NM_022114.3:c.1632C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Feb 26, 2016 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411881 G A Variant 227862 RCV000223463;RCV000459912 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Likely benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3411916 G A Variant 241423 RCV000225997 238271 PRDM16 NM_022114.3:c.1719G>A NP_071397.3:p.Ala573= NM_022114.3:c.1719G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Mar 13, 2016 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412074 A T Variant 229159 RCV000217585 228441 PRDM16 NM_022114.3:c.1877A>T NP_071397.3:p.Asp626Val NM_022114.3:c.1877A>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 26, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412095 C T Variant 227027 RCV000221571 228440 PRDM16 NM_022114.3:c.1898C>T NP_071397.3:p.Pro633Leu NM_022114.3:c.1898C>T:missense variant Benign 0 1 0 criteria provided, single submitter Mar 04, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3412174 G A Variant 227863 RCV000215898 228442 PRDM16 NM_022114.3:c.1977G>A NP_071397.3:p.Pro659= NM_022114.3:c.1977G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Mar 11, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412257 G C Variant 229160 RCV000221873 228443 PRDM16 NM_022114.3:c.2060G>C NP_071397.3:p.Gly687Ala NM_022114.3:c.2060G>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 22, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412286 G T Variant 229161 RCV000214303 228444 PRDM16 NM_022114.3:c.2089G>T NP_071397.3:p.Ala697Ser NM_022114.3:c.2089G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 22, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412288 A T Variant 227028 RCV000215257;RCV000470201 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412297 C T Variant 220733 RCV000204005 221096 PRDM16 NM_022114.3:c.2100C>T NP_071397.3:p.Ala700= NM_022114.3:c.2100C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Nov 25, 2015 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412301 A T Variant 60724 RCV000054518 75284 PRDM16 NM_022114.3:c.2104A>T NP_071397.3:p.Lys702Ter NM_022114.3:c.2104A>T:nonsense Pathogenic 1 0 0 no assertion criteria provided Jul 11, 2013 0 OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412327 G A Variant 241424 RCV000232265 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter Mar 29, 2016 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412487 G A Variant 229162 RCV000217269;RCV000226109 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Mar 11, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412631 C T Variant 229163 RCV000221476 228447 PRDM16 NM_022114.3:c.2434C>T NP_071397.3:p.Arg812Cys NM_022114.3:c.2434C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 02, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3412644 A G Variant 60726 RCV000054520 75286 PRDM16 NM_022114.3:c.2447A>G NP_071397.3:p.Asn816Ser NM_022114.3:c.2447A>G:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 11, 2013 0 OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412646 G A Variant 241425 RCV000230075 238273 PRDM16 NM_022114.3:c.2449G>A NP_071397.3:p.Gly817Ser NM_022114.3:c.2449G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 15, 2016 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412649 G A Variant 241426 RCV000232966;RCV000418666 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Benign 0 1 0 criteria provided, single submitter Dec 22, 2015 1 Invitae;GeneDx Left ventricular noncompaction 8;not specified All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 +1 3412665 G C Variant 227865 RCV000223185;RCV000226799 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 10, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266,26350513 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412699 C T Variant 227029 RCV000219694 228449 PRDM16 NM_022114.3:c.2502C>T NP_071397.3:p.Gly834= NM_022114.3:c.2502C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Mar 11, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3412703 G A Variant 227030 RCV000221333;RCV000469328 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3412773 C T Variant 229164 RCV000215161;RCV000468206 228451 PRDM16 NM_022114.3:c.2576C>T NP_071397.3:p.Ser859Leu NM_022114.3:c.2576C>T:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Nov 28, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3414590 C T Variant 227866 RCV000216924;RCV000469880 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Oct 22, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3414616 T C Variant 60729 RCV000054523 75289 PRDM16 NM_022114.3:c.2660T>C NP_071397.3:p.Leu887Pro NM_022114.3:c.2660T>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 11, 2013 0 OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 +1 3414629 G A Variant 227031 RCV000215017;RCV000475588 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3417877 T C Variant 241427 RCV000229654 238275 PRDM16 NM_022114.3:c.2741T>C NP_071397.3:p.Met914Thr NM_022114.3:c.2741T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 17, 2015 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3417883 C T Variant 218791 RCV000203205 215209 PRDM16 NM_022114.3:c.2747C>T NP_071397.3:p.Ala916Val NM_022114.3:c.2747C>T:missense variant Benign 0 1 0 criteria provided, single submitter Apr 12, 2015 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;Not specified unknown MedGen:CN169374 +1 3417916 A C Variant 373755 RCV000413206 359242 PRDM16 NM_022114.3:c.2780A>C NP_071397.3:p.His927Pro NM_022114.3:c.2780A>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 09, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 3417922 C A Variant 229165 RCV000219521 228454 PRDM16 NM_022114.3:c.2786C>A NP_071397.3:p.Pro929His NM_022114.3:c.2786C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 21, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3417929 C T Variant 227032 RCV000219295;RCV000233639 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Mar 06, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3417941 A ACC Variant 229166 RCV000221072 228456 PRDM16 NM_022114.3:c.2809_2810dupCC NP_071397.3:p.Thr938Glnfs NM_022114.3:c.2809_2810dupCC:frameshift variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 02, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3417951 C G Variant 373801 RCV000414615;RCV000474992 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 14, 2016 1 GeneDx;Invitae not specified;Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3417992 G A Variant 227867 RCV000219939 228457 PRDM16 NM_022114.3:c.2856G>A NP_071397.3:p.Thr952= NM_022114.3:c.2856G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Mar 21, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3425566 G A Variant 229167 RCV000214743 228458 PRDM16 NM_022114.3:c.2940-15G>A NM_022114.3:c.2940-15G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 23, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3425594 G A Variant 373270 RCV000413640 359356 PRDM16 NM_022114.3:c.2953G>A NP_071397.3:p.Asp985Asn NM_022114.3:c.2953G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 21, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 3425743 C T Variant 241428 RCV000226908;RCV000444388 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter Jan 10, 2016 1 Invitae;GeneDx Left ventricular noncompaction 8;not specified All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 +1 3425760 G A Variant 227033 RCV000223403;RCV000460045 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3425762 G C Variant 227868 RCV000213653 228460 PRDM16 NM_022114.3:c.3109+12G>C NM_022114.3:c.3109+12G>C:intron variant Likely benign 0 1 0 criteria provided, single submitter Jul 08, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3426047 G A Variant 227869 RCV000217996;RCV000465584 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter Apr 16, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3426070 C T Variant 241429 RCV000230873 238277 PRDM16 NM_022114.3:c.3129C>T NP_071397.3:p.Val1043= NM_022114.3:c.3129C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Nov 25, 2015 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3426071 C T Variant 227034 RCV000215790;RCV000232612 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 10, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3426076 G A Variant 227870 RCV000220998 228463 PRDM16 NM_022114.3:c.3135G>A NP_071397.3:p.Thr1045= NM_022114.3:c.3135G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter May 06, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3426210 C T Variant 241430 RCV000227583 238278 PRDM16 NM_022114.3:c.3269C>T NP_071397.3:p.Thr1090Met NM_022114.3:c.3269C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 12, 2016 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3426240 G T Variant 227035 RCV000218772 228464 PRDM16 NM_022114.3:c.3284+15G>T NM_022114.3:c.3284+15G>T:intron variant Benign 0 1 0 criteria provided, single submitter Mar 04, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3430888 G A Variant 60727 RCV000054521;RCV000204421;RCV000223010 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Dec 02, 2016 1 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 All ages 1-9 / 100 000 germline MedGen:CN178850;OMIM:615373;MedGen:C3809288;Orphanet:154;Orphanet:54260;MedGen:CN169374 +1 3430953 C T Variant 227871 RCV000213381 228465 PRDM16 NM_022114.3:c.3366C>T NP_071397.3:p.Asp1122= NM_022114.3:c.3366C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Aug 13, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 3430956 C T Variant 227036 RCV000216881;RCV000230406 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Jan 02, 2016 2 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 All ages 1-9 / 100 000 germline MedGen:CN169374;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3432065 A T Variant 241431 RCV000234393 238279 PRDM16 NM_022114.3:c.3621A>T NP_071397.3:p.Glu1207Asp NM_022114.3:c.3621A>T:missense variant Likely benign 0 1 0 criteria provided, single submitter Feb 24, 2016 1 Invitae Left ventricular noncompaction 8 All ages 1-9 / 100 000 germline MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 +1 3432131 T C Variant 227037 RCV000219826 228467 PRDM16 NM_022114.3:c.3687T>C NP_071397.3:p.Ala1229= NM_022114.3:c.3687T>C:synonymous variant Benign 0 1 0 criteria provided, single submitter Nov 24, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 +1 3816372 T C Variant 221277 RCV000207283 222988 CEP104 NM_014704.3:c.2572-2A>G NM_014704.3:c.2572-2A>G:splice acceptor variant Pathogenic 1 0 0 no assertion criteria provided Feb 02, 2016 0 OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 +1 3835079 T TA Variant 221275 RCV000207071 222986 CEP104 NM_014704.3:c.1328_1329insT NP_055519.1:p.Tyr444Leufs NM_014704.3:c.1328_1329insT:frameshift variant Pathogenic 1 0 0 no assertion criteria provided Feb 02, 2016 0 OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 +1 3839606 A G Variant 221274 RCV000207253 222985 CEP104 NM_014704.3:c.735+2T>C NM_014704.3:c.735+2T>C:splice donor variant Pathogenic 1 0 0 no assertion criteria provided Feb 02, 2016 0 OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546,7 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 +1 3844977 G A Variant 221276 RCV000207197 222987 CEP104 NM_014704.3:c.496C>T NP_055519.1:p.Arg166Ter NM_014704.3:c.496C>T:nonsense Pathogenic 1 0 0 no assertion criteria provided Feb 02, 2016 0 OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 26477546 Antenatal 1-9 / 100 000 germline MedGen:CN235076;OMIM:616781;Orphanet:475 +1 5862951 A C Variant 297781 RCV000273736;RCV000332696 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 0 1 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5863137 T G Variant 297782 RCV000260041;RCV000389549 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 0 1 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5863239 G A Variant 297783 RCV000317634;RCV000374332 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5863309 C T Variant 297784 RCV000282410;RCV000339705 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 Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5863367 A T Variant 95686 RCV000081719;RCV000476917 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 Benign 0 1 0 criteria provided, single submitter Feb 22, 2013 1 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 23757202;0,2,27004616,27336129,95686 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5863401 C T Variant 196631 RCV000177474 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 0 0 0 criteria provided, single submitter Jul 11, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5863403 G A Variant 288025 RCV000266655 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 0 0 0 criteria provided, single submitter May 12, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5863416 G A Variant 260560 RCV000246011;RCV000286079;RCV000377961 249993 NPHP4 NM_015102.4:c.4141-11C>T NM_015102.4:c.4141-11C>T:intron variant Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 PreventionGenetics,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 +1 5863916 G A Variant 215887 RCV000198249;RCV000407300 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 Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 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 +1 5863955 G A Variant 190975 RCV000171146;RCV000308383;RCV000346948 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 Likely pathogenic;Uncertain significance 1 0 0 criteria provided, conflicting interpretations Jun 14, 2016 1 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 +1 5863996 C T Variant 291157 RCV000312005;RCV000391142;RCV000407270 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 0 0 0 criteria provided, multiple submitters, no conflicts Sep 08, 2016 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University 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 +1 5864350 C T Variant 215886 RCV000196648 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 0 1 0 criteria provided, single submitter Mar 16, 2015 1 Invitae Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5864370 A C Variant 297785 RCV000276833;RCV000369051 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5864374 G A Variant 282577 RCV000315514;RCV000353114;RCV000353952 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 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University 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 +1 5864407 G A Variant 196137 RCV000176883 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 0 0 0 criteria provided, single submitter Apr 23, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5864423 T C Variant 196138 RCV000176884 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 0 1 0 criteria provided, single submitter Jul 26, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5864458 G A Variant 95685 RCV000081718;RCV000205951;RCV000261468 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 Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5864470 G A Variant 297786 RCV000264957;RCV000375871 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5864483 C T Variant 286996 RCV000395711;RCV000477226 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 Uncertain significance 0 0 0 criteria provided, single submitter Apr 23, 2016 1 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5864491 C A Variant 167370 RCV000153582 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 0 0 0 criteria provided, single submitter Aug 11, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5864497 G A Variant 167371 RCV000153583;RCV000199892 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 Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5865141 C T Variant 287096 RCV000278432;RCV000322356;RCV000379124 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 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;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 +1 5865156 C A Variant 297787 RCV000287037;RCV000344394 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5865160 C T Variant 297788 RCV000290652;RCV000382692 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5865161 G A Variant 286539 RCV000310947 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 0 0 0 criteria provided, single submitter Feb 25, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5865164 G A Variant 95684 RCV000081717 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 0 0 0 criteria provided, single submitter Jan 09, 2013 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 +1 5865195 G A Variant 297789 RCV000347891;RCV000401689 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5865213 G A Variant 297790 RCV000312869;RCV000352075 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5865215 G A Variant 297791 RCV000298425;RCV000407610 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5865244 G A Variant 196032 RCV000176754;RCV000231868 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 0 1 0 criteria provided, multiple submitters, no conflicts Jan 20, 2016 2 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5865288 G A Variant 297792 RCV000263212;RCV000355588 283017 NPHP4 NM_015102.4:c.3645-15C>T NM_015102.4:c.3645-15C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5865311 G A Variant 260559 RCV000248599 249994 NPHP4 NM_015102.4:c.3645-38C>T NM_015102.4:c.3645-38C>T:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5866405 C T Variant 297793 RCV000302018;RCV000359177 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5866442 C T Variant 195976 RCV000176676 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 0 0 0 criteria provided, single submitter Oct 17, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5866443 G A Variant 188389 RCV000168448;RCV000271940 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 Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 30, 2016 1 Invitae;Emory Genetics Laboratory,Emory University Nephronophthisis;not specified 0,15776426,22550138,27336129,3574,4;15776426,26346198 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374 +1 5866447 T C Variant 95683 RCV000081716;RCV000266333;RCV000324301 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5866476 AG A Variant 260558 RCV000253685 249995 NPHP4 NM_015102.4:c.3559-19delC NM_015102.4:c.3559-19delC:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5867070 C T Variant 297794 RCV000270302;RCV000362620 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5867109 G A Variant 220304 RCV000205285;RCV000248751;RCV000384533 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 Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Invitae;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics,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 +1 5867131 T C Variant 260557 RCV000243373 249996 NPHP4 NM_015102.4:c.3473-16A>G NM_015102.4:c.3473-16A>G:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5867734 A G Variant 260556 RCV000251356 249997 NPHP4 NM_015102.4:c.3472+6T>C NM_015102.4:c.3472+6T>C:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5867758 G A Variant 195828 RCV000176491 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 0 0 0 criteria provided, single submitter Aug 11, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5867767 G A Variant 287251 RCV000353388 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 0 0 0 criteria provided, single submitter Mar 29, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5867827 C T Variant 289977 RCV000281891 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 0 0 0 criteria provided, single submitter Aug 02, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5867883 G A Variant 95682 RCV000081715;RCV000292444;RCV000331197 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 Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;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 +1 5873220 C T Variant 260555 RCV000246810 249998 NPHP4 NM_015102.4:c.3315+32G>A NM_015102.4:c.3315+32G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5873324 C G Variant 95681 RCV000081714;RCV000296377;RCV000388001 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 Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5874430 A G Variant 260554 RCV000252694 249999 NPHP4 NM_015102.4:c.3231+41T>C NM_015102.4:c.3231+41T>C:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5874440 T C Variant 260553 RCV000247753 250000 NPHP4 NM_015102.4:c.3231+31A>G NM_015102.4:c.3231+31A>G:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5874466 C T Variant 297795 RCV000335051;RCV000398811 283022 NPHP4 NM_015102.4:c.3231+5G>A NM_015102.4:c.3231+5G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5874521 C T Variant 167372 RCV000153584 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 0 0 0 criteria provided, single submitter Aug 11, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874534 G A Variant 288722 RCV000307652 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 0 1 0 criteria provided, single submitter Jun 09, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874542 G A Variant 190976 RCV000171147 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 1 0 0 criteria provided, single submitter - 1 Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre not provided;Not provided 25741868 germline MedGen:CN221809 +1 5874552 C T Variant 288724 RCV000273056 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 0 0 0 criteria provided, single submitter Jun 09, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874558 G A Variant 240970 RCV000234198 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 0 1 0 criteria provided, single submitter Jan 19, 2016 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5874584 T C Variant 286777 RCV000366209 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 0 0 0 criteria provided, single submitter Mar 14, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874592 T G Variant 291100 RCV000373342 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 0 0 0 criteria provided, single submitter Sep 02, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874621 C T Variant 260552 RCV000243174 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 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5874624 G A Variant 297796 RCV000280994;RCV000338607 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5874629 C G Variant 297797 RCV000303466;RCV000392493 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5874650 C T Variant 220869 RCV000206676 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 0 0 0 criteria provided, single submitter Oct 29, 2015 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5874656 C T Variant 297798 RCV000360589;RCV000392484 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5874661 G T Variant 297799 RCV000307136;RCV000364227 280976 NPHP4 NM_015102.4:c.3045-4C>A NM_015102.4:c.3045-4C>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5874882 G A Variant 195613 RCV000176220 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 0 1 0 criteria provided, multiple submitters, no conflicts Mar 02, 2015 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5874890 C T Variant 195609 RCV000176217 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 0 0 0 criteria provided, single submitter Jul 09, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874891 G A Variant 297800 RCV000272007;RCV000329409 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5874906 C T Variant 291268 RCV000379083 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 0 0 0 criteria provided, single submitter Sep 21, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874946 A G Variant 3402 RCV000003571 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 1 0 0 no assertion criteria provided Oct 01, 2002 0 OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 +1 5874953 C T Variant 195608 RCV000176216;RCV000261619;RCV000367814 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 0 0 0 criteria provided, multiple submitters, no conflicts Jul 07, 2016 2 Emory Genetics Laboratory,Emory University;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 +1 5874954 G A Variant 290383 RCV000351809 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 0 0 0 criteria provided, single submitter Aug 11, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874959 C T Variant 286338 RCV000345507 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 0 0 0 criteria provided, single submitter Feb 25, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5874973 T TGGAGC Variant 95680 RCV000081713 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 1 0 0 no assertion criteria provided Aug 30, 2013 0 Emory Genetics Laboratory,Emory University not provided;not provided 23757202 germline MedGen:CN221809 +1 5874979 G A Variant 289035 RCV000400326 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 0 0 0 criteria provided, single submitter Jun 21, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5875004 T C Variant 195610 RCV000176218;RCV000224574 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 0 1 0 criteria provided, multiple submitters, no conflicts May 22, 2015 2 Emory Genetics Laboratory,Emory University;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 +1 5875016 C T Variant 291052 RCV000279729 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 0 0 0 criteria provided, single submitter Sep 20, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5875026 G A Variant 195614 RCV000176221 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 0 0 0 criteria provided, single submitter Feb 19, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5875036 C T Variant 167373 RCV000153585;RCV000206662 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 0 1 0 criteria provided, multiple submitters, no conflicts Aug 28, 2015 2 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5875042 C T Variant 240969 RCV000231338;RCV000389915 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 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 +1 5875050 G A Variant 167374 RCV000153586;RCV000295648;RCV000331805 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5875069 C T Variant 291277 RCV000314498 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 0 0 0 criteria provided, single submitter Sep 23, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5875098 C T Variant 260551 RCV000242359;RCV000291890;RCV000386368 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 Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 PreventionGenetics,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 +1 5875120 G A Variant 195612 RCV000176219 192773 NPHP4 NM_015102.4:c.2818-20C>T NM_015102.4:c.2818-20C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 21, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5877098 C T Variant 260550 RCV000250885 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 0 1 0 criteria provided, multiple submitters, no conflicts Dec 09, 2015 2 PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 +1 5877102 C T Variant 240968 RCV000227512;RCV000245940;RCV000401361 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Invitae;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics,PreventionGenetics;Emory Genetics Laboratory,Emory University 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 +1 5877103 G A Variant 284756 RCV000398485 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 0 0 0 criteria provided, single submitter Dec 17, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5877103 G T Variant 167376 RCV000153588 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 0 0 0 criteria provided, single submitter Jul 25, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5877108 G A Variant 95679 RCV000081712;RCV000288432;RCV000343148 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5877186 C T Variant 95678 RCV000081711;RCV000303360;RCV000399353 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5877200 C T Variant 297801 RCV000358103;RCV000407118 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5877209 G A Variant 297802 RCV000300044;RCV000354793 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5877223 C T Variant 286862 RCV000301378 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 0 0 0 criteria provided, single submitter Mar 10, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5877257 T G Variant 291103 RCV000284900 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 0 0 0 criteria provided, single submitter Sep 02, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5877257 TGTCCAC GGTCCAT Variant 291179 RCV000393877 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 0 0 0 criteria provided, single submitter Sep 07, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5877263 C T Variant 291099 RCV000316330 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 0 0 0 criteria provided, single submitter Sep 02, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5877267 C T Variant 95677 RCV000081710;RCV000260042;RCV000314742 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 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5877268 G A Variant 297803 RCV000274871;RCV000369396 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5877331 C T Variant 260547 RCV000243253 250004 NPHP4 NM_015102.4:c.2612-33G>A NM_015102.4:c.2612-33G>A:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5880156 G A Variant 288104 RCV000318135 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 0 0 0 criteria provided, single submitter May 13, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5880168 C A Variant 297804 RCV000330012;RCV000384597 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5880182 C T Variant 95676 RCV000081709 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 0 0 0 criteria provided, single submitter Jun 08, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 +1 5880183 G A Variant 95675 RCV000081708 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 0 1 0 criteria provided, single submitter Feb 22, 2013 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 +1 5880194 G A Variant 297805 RCV000271097;RCV000326128 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5880206 C T Variant 289888 RCV000334924 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 0 0 0 criteria provided, single submitter Aug 02, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5880215 C T Variant 194970 RCV000175463 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 0 0 0 criteria provided, single submitter Nov 17, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5887248 G A Variant 260546 RCV000253302 250005 NPHP4 NM_015102.4:c.2485+38C>T NM_015102.4:c.2485+38C>T:intron variant Benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5887306 T C Variant 194865 RCV000175333 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 0 0 0 criteria provided, single submitter Jun 12, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5887312 C T Variant 297806 RCV000286794;RCV000380703 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5887313 G A Variant 287002 RCV000264657 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 0 1 0 criteria provided, single submitter Aug 25, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5887346 T C Variant 194866 RCV000175334 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 0 0 0 criteria provided, single submitter Mar 02, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5887352 G A Variant 297807 RCV000341820;RCV000377653 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 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5887394 G A Variant 3400 RCV000003569 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 1 0 0 no assertion criteria provided Oct 01, 2002 0 OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 +1 5887403 C A Variant 3399 RCV000003568 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 1 0 0 no assertion criteria provided Oct 01, 2002 0 OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655 +1 5887411 A T Variant 156398 RCV000144480 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 0 0 0 no assertion criteria provided Sep 18, 2014 0 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;MedGen:C0339527;OMIM:204000;OMIM:PS204000;Office of Rare Diseases:634;Orphanet:ORPHA65;SNOMED CT:193413001 +1 5887436 G A Variant 3404 RCV000003573;RCV000234814 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 1 0 0 no assertion criteria provided Feb 10, 2016 0 OMIM;GeneReviews Senior-Loken syndrome 4;SENIOR-LOKEN SYNDROME 4;Nephronophthisis 11920287,12205563,6837691;12205563,27336129 Childhood <1 / 1 000 000 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 +1 5890879 C T Variant 95674 RCV000081707;RCV000196064 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 0 1 0 criteria provided, multiple submitters, no conflicts Sep 02, 2015 2 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 23757202;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5890912 C T Variant 297808 RCV000283252;RCV000338114 282765 NPHP4 NM_015102.4:c.2260G>A NP_055917.1:p.Gly754Arg NM_015102.4:c.2260G>A:missense variant;NR_111987.1:n.2525G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 12205563,15776426,16339905,17558407,21546380,21866095,27336129 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 +1 5890913 G A Variant 289327 RCV000296052;RCV000298397;RCV000400933 273564 NPHP4 NM_015102.4:c.2259C>T NP_055917.1:p.Asp753= NM_015102.4:c.2259C>T:synonymous variant;NR_111987.1:n.2524C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Aug 05, 2016 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 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 +1 5890915 C T Variant 194764 RCV000175205;RCV000204681;RCV000392070 191927 NPHP4 NM_015102.4:c.2257G>A NP_055917.1:p.Asp753Asn NM_015102.4:c.2257G>A:missense variant;NR_111987.1:n.2522G>A:non-coding transcript variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Emory Genetics Laboratory,Emory University;Invitae;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 +1 5890926 A G Variant 297809 RCV000312745;RCV000367388 281565 NPHP4 NM_015102.4:c.2246T>C NP_055917.1:p.Ile749Thr NM_015102.4:c.2246T>C:missense variant;NR_111987.1:n.2511T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5890942 C T Variant 297810 RCV000272818;RCV000309369 280978 NPHP4 NM_015102.4:c.2230G>A NP_055917.1:p.Val744Met NM_015102.4:c.2230G>A:missense variant;NR_111987.1:n.2495G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5890953 C T Variant 240967 RCV000233672;RCV000248287;RCV000364078 238340 NPHP4 NM_015102.4:c.2219G>A NP_055917.1:p.Arg740His NM_015102.4:c.2219G>A:missense variant;NR_111987.1:n.2484G>A:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Invitae;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics,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 +1 5890969 G A Variant 194765 RCV000175206 191928 NPHP4 NM_015102.4:c.2203C>T NP_055917.1:p.Arg735Trp NM_015102.4:c.2203C>T:missense variant;NR_111987.1:n.2468C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 19, 2014 1 Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified 15776426 germline MedGen:CN169374 +1 5890974 C T Variant 156399 RCV000144481 166179 NPHP4 NM_015102.4:c.2198G>A NP_055917.1:p.Gly733Asp NM_015102.4:c.2198G>A:missense variant;NR_111987.1:n.2463G>A:non-coding transcript variant Uncertain significance 0 0 0 no assertion criteria provided Sep 18, 2014 0 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;MedGen:C0339527;OMIM:204000;OMIM:PS204000;Office of Rare Diseases:634;Orphanet:ORPHA65;SNOMED CT:193413001 +1 5904618 A T Variant 290903 RCV000349584 275140 NPHP4 NM_015102.4:c.2142T>A NP_055917.1:p.Ala714= NM_015102.4:c.2142T>A:synonymous variant;NR_111987.1:n.2407T>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 24, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5904645 A G Variant 297811 RCV000324605;RCV000379250 283026 NPHP4 NM_015102.4:c.2115T>C NP_055917.1:p.Pro705= NM_015102.4:c.2115T>C:synonymous variant;NR_111987.1:n.2380T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5904709 T C Variant 283814 RCV000376589 268051 NPHP4 NM_015102.4:c.2051A>G NP_055917.1:p.Gln684Arg NM_015102.4:c.2051A>G:missense variant;NR_111987.1:n.2316A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Oct 20, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5904716 G A Variant 3401 RCV000003570;RCV000162133 18440 NPHP4 NM_015102.4:c.2044C>T NP_055917.1:p.Arg682Ter NM_015102.4:c.2044C>T:nonsense;NR_111987.1:n.2309C>T:non-coding transcript variant Likely pathogenic;Pathogenic 1 0 0 no assertion criteria provided Dec 01, 2014 0 OMIM;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Nephronophthisis 4;NEPHRONOPHTHISIS 4;Infertility;Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) 12244321;25558065 Autosomal recessive inheritance All ages 1-9 / 100 000 germline GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;Genetic Testing Registry (GTR):GTR000502429;Genetic Testing Registry (GTR):GTR000502875;Genetic Testing Registry (GTR):GTR000511662;Genetics Home Reference:nephronophthisis;MedGen:C1847013;OMIM:606966;Orphanet:655;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre:12DG0088;Human Phenotype Ontology:HP:0000789;MedGen:CN000737;MedGen:CN228268 +1 5904728 C A Variant 291245 RCV000384834 275482 NPHP4 NM_015102.4:c.2032G>T NP_055917.1:p.Ala678Ser NM_015102.4:c.2032G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 15, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5904729 G A Variant 240966 RCV000230949;RCV000244563;RCV000266088 238341 NPHP4 NM_015102.4:c.2031C>T NP_055917.1:p.Pro677= NM_015102.4:c.2031C>T:synonymous variant;NR_111987.1:n.2296C>T:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Invitae;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics,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 +1 5904773 G T Variant 297812 RCV000280518;RCV000375877 281570 NPHP4 NM_015102.4:c.1987C>A NP_055917.1:p.Pro663Thr NM_015102.4:c.1987C>A:missense variant;NR_111987.1:n.2252C>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5904788 G A Variant 3405 RCV000003574;RCV000234826 18444 NPHP4 NM_015102.4:c.1972C>T NP_055917.1:p.Arg658Ter NM_015102.4:c.1972C>T:nonsense;NR_111987.1:n.2237C>T:non-coding transcript variant Pathogenic 1 0 0 no assertion criteria provided Feb 10, 2016 0 OMIM;GeneReviews Senior-Loken syndrome 4;SENIOR-LOKEN SYNDROME 4;Nephronophthisis 12205563,1248184;12205563,27336129 Childhood <1 / 1 000 000 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 +1 5904794 C T Variant 194659 RCV000175082;RCV000335529;RCV000371477 191822 NPHP4 NM_015102.4:c.1966G>A NP_055917.1:p.Asp656Asn NM_015102.4:c.1966G>A:missense variant;NR_111987.1:n.2231G>A:non-coding transcript variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Emory Genetics Laboratory,Emory University;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 +1 5905285 G T Variant 297813 RCV000295698;RCV000351664 283037 NPHP4 NM_015102.4:c.1955+7C>A NM_015102.4:c.1955+7C>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5905312 T C Variant 215885 RCV000198366 212107 NPHP4 NM_015102.4:c.1935A>G NP_055917.1:p.Leu645= NM_015102.4:c.1935A>G:synonymous variant;NR_111987.1:n.2200A>G:non-coding transcript variant Likely benign 0 1 0 criteria provided, single submitter Jan 18, 2015 1 Invitae Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5905318 C T Variant 297814 RCV000312028;RCV000398959 282769 NPHP4 NM_015102.4:c.1929G>A NP_055917.1:p.Met643Ile NM_015102.4:c.1929G>A:missense variant;NR_111987.1:n.2194G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5905320 T C Variant 194539 RCV000174926 191702 NPHP4 NM_015102.4:c.1927A>G NP_055917.1:p.Met643Val NM_015102.4:c.1927A>G:missense variant;NR_111987.1:n.2192A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 02, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5905321 C T Variant 95673 RCV000081706;RCV000348170;RCV000392232 101570 NPHP4 NM_015102.4:c.1926G>A NP_055917.1:p.Glu642= NM_015102.4:c.1926G>A:synonymous variant;NR_111987.1:n.2191G>A:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5905324 G A Variant 286805 RCV000308350;RCV000363050;RCV000400262 271042 NPHP4 NM_015102.4:c.1923C>T NP_055917.1:p.Asn641= NM_015102.4:c.1923C>T:synonymous variant;NR_111987.1:n.2188C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;not specified 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;MedGen:CN169374 +1 5905373 G A Variant 297815 RCV000304601;RCV000392231 283038 NPHP4 NM_015102.4:c.1874C>T NP_055917.1:p.Pro625Leu NM_015102.4:c.1874C>T:missense variant;NR_111987.1:n.2139C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5905380 T C Variant 281976 RCV000284712 266213 NPHP4 NM_015102.4:c.1867A>G NP_055917.1:p.Thr623Ala NM_015102.4:c.1867A>G:missense variant;NR_111987.1:n.2132A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 24, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5905395 C T Variant 240965 RCV000226987;RCV000248016 238342 NPHP4 NM_015102.4:c.1852G>A NP_055917.1:p.Glu618Lys NM_015102.4:c.1852G>A:missense variant;NR_111987.1:n.2117G>A:non-coding transcript variant Benign 0 1 0 criteria provided, multiple submitters, no conflicts Feb 15, 2016 2 Invitae;PreventionGenetics,PreventionGenetics Nephronophthisis;not specified;NOT SPECIFIED 27336129;25741868 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374 +1 5905488 G A Variant 297816 RCV000264546;RCV000359321 283040 NPHP4 NM_015102.4:c.1764-5C>T NM_015102.4:c.1764-5C>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5905690 G C Variant 235419 RCV000224162;RCV000244128 237104 NPHP4 NM_015102.4:c.1705C>G NP_055917.1:p.Gln569Glu NM_015102.4:c.1705C>G:missense variant;NR_111987.1:n.1970C>G:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 25, 2015 2 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;PreventionGenetics,PreventionGenetics not provided;not specified;NOT SPECIFIED 25741868 germline MedGen:CN221809;MedGen:CN169374 +1 5905727 G A Variant 297817 RCV000319687;RCV000355974 283041 NPHP4 NM_015102.4:c.1668C>T NP_055917.1:p.Thr556= NM_015102.4:c.1668C>T:synonymous variant;NR_111987.1:n.1933C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5905763 G A Variant 194411 RCV000174775;RCV000261125;RCV000316449 191574 NPHP4 NM_015102.4:c.1632C>T NP_055917.1:p.Ala544= NM_015102.4:c.1632C>T:synonymous variant;NR_111987.1:n.1897C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 23, 2016 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 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 +1 5905764 G C Variant 260545 RCV000252129;RCV000293641;RCV000389624 250006 NPHP4 NM_015102.4:c.1631C>G NP_055917.1:p.Ala544Gly NM_015102.4:c.1631C>G:missense variant;NR_111987.1:n.1896C>G:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 PreventionGenetics,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 +1 5905773 G A Variant 282763 RCV000329954;RCV000384528;RCV000403180 267000 NPHP4 NM_015102.4:c.1622C>T NP_055917.1:p.Pro541Leu NM_015102.4:c.1622C>T:missense variant;NR_111987.1:n.1887C>T:non-coding transcript variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis;not specified 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;MedGen:CN169374 +1 5907106 G A Variant 95672 RCV000081705;RCV000289949;RCV000344879 101569 NPHP4 NM_015102.4:c.1611+9C>T NM_015102.4:c.1611+9C>T:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina;Invitae not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 23757202;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 +1 5907184 C T Variant 219984 RCV000206457 221111 NPHP4 NM_001291593.1:c.76-1404G>A NP_055917.1:p.Pro514= NM_001291593.1:c.76-1404G>A:intron variant;NM_015102.4:c.1542G>A:synonymous variant;NR_111987.1:n.1810G>A:non-coding transcript variant Benign 0 1 0 criteria provided, single submitter Aug 26, 2015 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5907193 C T Variant 194253 RCV000174579 191416 NPHP4 NM_001291593.1:c.76-1413G>A NP_055917.1:p.Pro511= NM_001291593.1:c.76-1413G>A:intron variant;NM_015102.4:c.1533G>A:synonymous variant;NR_111987.1:n.1801G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 13, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5907199 G A Variant 297818 RCV000286277;RCV000400158 281571 NPHP4 NM_001291593.1:c.76-1419C>T NP_055917.1:p.Ala509= NM_001291593.1:c.76-1419C>T:intron variant;NM_015102.4:c.1527C>T:synonymous variant;NR_111987.1:n.1795C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5909142 C T Variant 297819 RCV000341292;RCV000399273 283060 NPHP4 NM_015102.4:c.1503+10G>A NM_015102.4:c.1503+10G>A:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5909155 T C Variant 260544 RCV000247575 250007 NPHP4 NM_001291593.1:c.76-3375A>G NP_055917.1:p.Pro500= NM_001291593.1:c.76-3375A>G:intron variant;NM_015102.4:c.1500A>G:synonymous variant;NR_111987.1:n.1768A>G:non-coding transcript variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5909165 G C Variant 215518 RCV000199316;RCV000356919 212108 NPHP4 NM_001291593.1:c.76-3385C>G NP_055917.1:p.Pro497Arg NM_001291593.1:c.76-3385C>G:intron variant;NM_015102.4:c.1490C>G:missense variant;NR_111987.1:n.1758C>G:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 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 +1 5909173 C T Variant 215517 RCV000197103 212109 NPHP4 NM_001291593.1:c.76-3393G>A NP_055917.1:p.Gln494= NM_001291593.1:c.76-3393G>A:intron variant;NM_015102.4:c.1482G>A:synonymous variant;NR_111987.1:n.1750G>A:non-coding transcript variant Benign 0 1 0 criteria provided, single submitter Sep 02, 2015 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5909185 G A Variant 260543 RCV000242594;RCV000298314;RCV000407163 250008 NPHP4 NM_001291593.1:c.76-3405C>T NP_055917.1:p.Leu490= NM_001291593.1:c.76-3405C>T:intron variant;NM_015102.4:c.1470C>T:synonymous variant;NR_111987.1:n.1738C>T:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 PreventionGenetics,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 +1 5909193 G A Variant 297820 RCV000353231 283062 NPHP4 NM_001291593.1:c.76-3413C>T NP_055917.1:p.Arg488Ter NM_001291593.1:c.76-3413C>T:intron variant;NM_015102.4:c.1462C>T:nonsense;NR_111987.1:n.1730C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina NPHP4-Related Disorders;NPHP4-Related Disorders 15776426,21866095 germline Illumina Clinical Services Laboratory,Illumina:454178 +1 5909210 G A Variant 284999 RCV000277373;RCV000332355;RCV000343427 269236 NPHP4 NM_001291593.1:c.76-3430C>T NP_055917.1:p.Pro482Leu NM_001291593.1:c.76-3430C>T:intron variant;NM_015102.4:c.1445C>T:missense variant;NR_111987.1:n.1713C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;not specified 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;MedGen:CN169374 +1 5909220 G A Variant 166893 RCV000153042;RCV000274055;RCV000368626 177610 NPHP4 NM_015102.4:c.1442-7C>T NM_015102.4:c.1442-7C>T:intron variant Benign;Likely benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5927636 T C Variant 95671 RCV000081704;RCV000328999;RCV000383592 101568 NPHP4 NM_015102.4:c.1441+13A>G NM_015102.4:c.1441+13A>G:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;PreventionGenetics,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 +1 5927660 G A Variant 286321 RCV000311799 270558 NPHP4 NM_015102.4:c.1430C>T NP_055917.1:p.Thr477Met NM_015102.4:c.1430C>T:missense variant;NR_111987.1:n.1698C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 25, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5927682 G A Variant 297821 RCV000289380;RCV000325654 282770 NPHP4 NM_001291593.1:c.42C>T NP_001278522.1:p.Gly14= NM_001291593.1:c.42C>T:synonymous variant;NM_015102.4:c.1408C>T:missense variant;NR_111987.1:n.1676C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5927714 G T Variant 240964 RCV000233283 238343 NPHP4 NM_015102.4:c.1376C>A NP_055917.1:p.Thr459Lys NM_001291593.1:c.10C>A:synonymous variant;NM_015102.4:c.1376C>A:missense variant;NR_111987.1:n.1644C>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 05, 2016 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5927760 G A Variant 297822 RCV000285959;RCV000380350 282778 NPHP4 NM_015102.4:c.1330C>T NP_055917.1:p.Arg444Trp NM_001291593.1:c.-37C>T:5 prime UTR variant;NM_015102.4:c.1330C>T:missense variant;NR_111987.1:n.1598C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5927771 G A Variant 193899 RCV000174129;RCV000229308 191062 NPHP4 NM_015102.4:c.1319C>T NP_055917.1:p.Ser440Leu NM_001291593.1:c.-48C>T:5 prime UTR variant;NM_015102.4:c.1319C>T:missense variant;NR_111987.1:n.1587C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Feb 07, 2016 2 Emory Genetics Laboratory,Emory University;Invitae not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5933245 A T Variant 287256 RCV000331202 271493 NPHP4 NM_015102.4:c.1204T>A NP_055917.1:p.Ser402Thr NM_001291593.1:c.-163T>A:5 prime UTR variant;NM_015102.4:c.1204T>A:missense variant;NR_111987.1:n.1472T>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 29, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5933253 T C Variant 297823 RCV000340961;RCV000389927 282780 NPHP4 NM_015102.4:c.1196A>G NP_055917.1:p.Glu399Gly NM_001291593.1:c.-171A>G:5 prime UTR variant;NM_015102.4:c.1196A>G:missense variant;NR_111987.1:n.1464A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5933283 A G Variant 297824 RCV000280582;RCV000337930 281572 NPHP4 NM_015102.4:c.1166T>C NP_055917.1:p.Val389Ala NM_001291593.1:c.-201T>C:5 prime UTR variant;NM_015102.4:c.1166T>C:missense variant;NR_111987.1:n.1434T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5933322 G A Variant 288535 RCV000270134;RCV000298117;RCV000401015 272772 NPHP4 NM_015102.4:c.1127C>T NP_055917.1:p.Ser376Leu NM_001291593.1:c.-240C>T:5 prime UTR variant;NM_015102.4:c.1127C>T:missense variant;NR_111987.1:n.1395C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;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 +1 5933342 C A Variant 297825 RCV000350599;RCV000391847 280979 NPHP4 NM_015102.4:c.1120-13G>T NM_015102.4:c.1120-13G>T:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5947109 C T Variant 290074 RCV000278266 274311 NPHP4 NM_015102.4:c.1114G>A NP_055917.1:p.Gly372Ser NM_001291593.1:c.-253G>A:5 prime UTR variant;NM_015102.4:c.1114G>A:missense variant;NR_111987.1:n.1382G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 12, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5947134 C A Variant 199135 RCV000180648 196294 NPHP4 NM_015102.4:c.1089G>T NP_055917.1:p.Val363= NM_001291593.1:c.-278G>T:5 prime UTR variant;NM_015102.4:c.1089G>T:synonymous variant;NR_111987.1:n.1357G>T:non-coding transcript variant Benign 0 1 0 criteria provided, single submitter Mar 26, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5947144 A G Variant 199134 RCV000180647 196293 NPHP4 NM_015102.4:c.1079T>C NP_055917.1:p.Leu360Pro NM_001291593.1:c.-288T>C:5 prime UTR variant;NM_015102.4:c.1079T>C:missense variant;NR_111987.1:n.1347T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 03, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5947158 C T Variant 297826 RCV000313161;RCV000365411 280984 NPHP4 NM_015102.4:c.1065G>A NP_055917.1:p.Ala355= NM_001291593.1:c.-302G>A:5 prime UTR variant;NM_015102.4:c.1065G>A:synonymous variant;NR_111987.1:n.1333G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5947175 C T Variant 288723 RCV000362398 272960 NPHP4 NM_015102.4:c.1048G>A NP_055917.1:p.Gly350Ser NM_001291593.1:c.-319G>A:5 prime UTR variant;NM_015102.4:c.1048G>A:missense variant;NR_111987.1:n.1316G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 09, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5947176 G A Variant 297827 RCV000273284;RCV000307384 281573 NPHP4 NM_015102.4:c.1047C>T NP_055917.1:p.Val349= NM_001291593.1:c.-320C>T:5 prime UTR variant;NM_015102.4:c.1047C>T:synonymous variant;NR_111987.1:n.1315C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5947199 G A Variant 281181 RCV000357469 265418 NPHP4 NM_015102.4:c.1024C>T NP_055917.1:p.Arg342Cys NM_001291593.1:c.-343C>T:5 prime UTR variant;NM_015102.4:c.1024C>T:missense variant;NR_111987.1:n.1292C>T:non-coding transcript variant Likely benign 0 1 0 criteria provided, single submitter Feb 29, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5947218 T C Variant 95670 RCV000081703 101567 NPHP4 NM_015102.4:c.1005A>G NP_055917.1:p.Gln335= NM_001291593.1:c.-362A>G:5 prime UTR variant;NM_015102.4:c.1005A>G:synonymous variant;NR_111987.1:n.1273A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 14, 2013 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 +1 5947226 C T Variant 285517 RCV000320446 269754 NPHP4 NM_015102.4:c.997G>A NP_055917.1:p.Gly333Arg NM_001291593.1:c.-370G>A:5 prime UTR variant;NM_015102.4:c.997G>A:missense variant;NR_111987.1:n.1265G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 22, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5948117 C T Variant 198869 RCV000180327 196029 NPHP4 NM_015102.4:c.945G>A NP_055917.1:p.Thr315= NM_001291593.1:c.-422G>A:5 prime UTR variant;NM_015102.4:c.945G>A:synonymous variant;NR_111987.1:n.1213G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 02, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5948194 C A Variant 291291 RCV000352642 275528 NPHP4 NM_015102.4:c.868G>T NP_055917.1:p.Gly290Cys NM_001291593.1:c.-499G>T:5 prime UTR variant;NM_015102.4:c.868G>T:missense variant;NR_111987.1:n.1136G>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 22, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5948242 G C Variant 297828 RCV000267411;RCV000364127 283071 NPHP4 NM_015102.4:c.820C>G NP_055917.1:p.Pro274Ala NM_001291593.1:c.-547C>G:5 prime UTR variant;NM_015102.4:c.820C>G:missense variant;NR_111987.1:n.1088C>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5952710 T A Variant 288173 RCV000296994;RCV000324865;RCV000377050 272410 NPHP4 NM_015102.4:c.800A>T NP_055917.1:p.His267Leu NM_001291593.1:c.-556-4459A>T:intron variant;NM_001291594.1:c.-567A>T:5 prime UTR variant;NM_015102.4:c.800A>T:missense variant;NR_111987.1:n.1068A>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;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 +1 5952721 G A Variant 288804 RCV000291432 273041 NPHP4 NM_015102.4:c.789C>T NP_055917.1:p.His263= NM_001291593.1:c.-556-4470C>T:intron variant;NM_001291594.1:c.-578C>T:5 prime UTR variant;NM_015102.4:c.789C>T:synonymous variant;NR_111987.1:n.1057C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5952797 G T Variant 198564 RCV000179946 195725 NPHP4 NM_015102.4:c.713C>A NP_055917.1:p.Thr238Lys NM_001291593.1:c.-556-4546C>A:intron variant;NM_001291594.1:c.-654C>A:5 prime UTR variant;NM_015102.4:c.713C>A:missense variant;NR_111987.1:n.981C>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Mar 06, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5961868 T C Variant 240971 RCV000228425 238344 NPHP4 NM_015102.4:c.599A>G NP_055917.1:p.His200Arg NM_001291593.1:c.-631A>G:5 prime UTR variant;NM_015102.4:c.599A>G:missense variant;NR_111987.1:n.867A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 20, 2016 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5967305 C T Variant 235474 RCV000224782;RCV000250562 237156 NPHP4 NM_015102.4:c.511G>A NP_055917.1:p.Ala171Thr NM_001291593.1:c.-719G>A:5 prime UTR variant;NM_015102.4:c.511G>A:missense variant;NR_111987.1:n.779G>A:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Aug 25, 2015 2 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;PreventionGenetics,PreventionGenetics not provided;not specified;NOT SPECIFIED 25741868 germline MedGen:CN221809;MedGen:CN169374 +1 5967324 G A Variant 215888 RCV000200461 212110 NPHP4 NM_015102.4:c.492C>T NP_055917.1:p.His164= NM_001291593.1:c.-738C>T:5 prime UTR variant;NM_015102.4:c.492C>T:synonymous variant;NR_111987.1:n.760C>T:non-coding transcript variant Likely benign 0 1 0 criteria provided, single submitter Aug 31, 2015 1 Invitae Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5967349 T C Variant 297829 RCV000265815;RCV000318634 282783 NPHP4 NM_015102.4:c.467A>G NP_055917.1:p.His156Arg NM_001291593.1:c.-763A>G:5 prime UTR variant;NM_015102.4:c.467A>G:missense variant;NR_111987.1:n.735A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5967390 C T Variant 95687 RCV000081720 101584 NPHP4 NM_015102.4:c.453-27G>A NM_015102.4:c.453-27G>A:intron variant Benign 0 1 0 criteria provided, single submitter Aug 28, 2012 1 Emory Genetics Laboratory,Emory University not specified;not specified 23757202 germline MedGen:CN169374 +1 5969265 G C Variant 260549 RCV000250158 250009 NPHP4 NM_015102.4:c.280-6C>G NM_015102.4:c.280-6C>G:intron variant Likely benign 0 1 0 criteria provided, single submitter - 1 PreventionGenetics,PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 +1 5978259 C T Variant 260548 RCV000245616;RCV000278717;RCV000375486 250010 NPHP4 NM_015102.4:c.279+11G>A NM_015102.4:c.279+11G>A:intron variant Benign;Uncertain significance 0 1 0 criteria provided, conflicting interpretations Jun 14, 2016 1 PreventionGenetics,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 +1 5978270 C A Variant 196470 RCV000177287 193631 NPHP4 NM_015102.4:c.279G>T NP_055917.1:p.Glu93Asp NM_001291593.1:c.-951G>T:5 prime UTR variant;NM_001291594.1:c.-1087-9011G>T:intron variant;NM_015102.4:c.279G>T:missense variant;NR_111987.1:n.547G>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 21, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5978275 T C Variant 286807 RCV000336223;RCV000339486;RCV000388363 271044 NPHP4 NM_015102.4:c.274A>G NP_055917.1:p.Asn92Asp NM_001291593.1:c.-956A>G:5 prime UTR variant;NM_001291594.1:c.-1087-9016A>G:intron variant;NM_015102.4:c.274A>G:missense variant;NR_111987.1:n.542A>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;not specified;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 +1 5978278 A G Variant 196471 RCV000177288 193632 NPHP4 NM_015102.4:c.271T>C NP_055917.1:p.Phe91Leu NM_001291593.1:c.-959T>C:5 prime UTR variant;NM_001291594.1:c.-1087-9019T>C:intron variant;NM_015102.4:c.271T>C:missense variant;NR_111987.1:n.539T>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 21, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified 15776426,21068128,21546380,22550138 germline MedGen:CN169374 +1 5978282 G A Variant 196469 RCV000177286 193630 NPHP4 NM_015102.4:c.267C>T NP_055917.1:p.Ile89= NM_001291593.1:c.-963C>T:5 prime UTR variant;NM_001291594.1:c.-1087-9023C>T:intron variant;NM_015102.4:c.267C>T:synonymous variant;NR_111987.1:n.535C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jan 21, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5978286 C T Variant 289039 RCV000312350 273276 NPHP4 NM_015102.4:c.263G>A NP_055917.1:p.Arg88Lys NM_001291593.1:c.-967G>A:5 prime UTR variant;NM_001291594.1:c.-1087-9027G>A:intron variant;NM_015102.4:c.263G>A:missense variant;NR_111987.1:n.531G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 21, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5978292 G A Variant 297830 RCV000296483;RCV000349088 280985 NPHP4 NM_015102.4:c.257C>T NP_055917.1:p.Pro86Leu NM_001291593.1:c.-973C>T:5 prime UTR variant;NM_001291594.1:c.-1087-9033C>T:intron variant;NM_015102.4:c.257C>T:missense variant;NR_111987.1:n.525C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5978416 AG A Variant 220231 RCV000204739;RCV000308778 221112 NPHP4 NM_015102.4:c.136-4delC NM_015102.4:c.136-4delC:intron variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 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 +1 5978425 C G Variant 297831 RCV000347268;RCV000390158 283079 NPHP4 NM_015102.4:c.136-12G>C NM_015102.4:c.136-12G>C:intron variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5986204 G A Variant 260561 RCV000253888;RCV000307502;RCV000359933 250011 NPHP4 NM_015102.4:c.86C>T NP_055917.1:p.Thr29Met NM_001291593.1:c.-1144C>T:5 prime UTR variant;NM_001291594.1:c.-1088+6040C>T:intron variant;NM_015102.4:c.86C>T:missense variant;NR_111987.1:n.354C>T:non-coding transcript variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 PreventionGenetics,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 +1 5986251 A C Variant 195305 RCV000175868 192466 NPHP4 NM_015102.4:c.39T>G NP_055917.1:p.Leu13= NM_001291593.1:c.-1191T>G:5 prime UTR variant;NM_001291594.1:c.-1088+5993T>G:intron variant;NM_015102.4:c.39T>G:synonymous variant;NR_111987.1:n.307T>G:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 10, 2014 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5986281 G A Variant 290374 RCV000316701 274611 NPHP4 NM_015102.4:c.9C>T NP_055917.1:p.Asp3= NM_001291593.1:c.-1221C>T:5 prime UTR variant;NM_001291594.1:c.-1088+5963C>T:intron variant;NM_015102.4:c.9C>T:synonymous variant;NR_111987.1:n.277C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 11, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 5986284 G A Variant 297832 RCV000267615;RCV000301621 281583 NPHP4 NM_015102.4:c.6C>T NP_055917.1:p.Asn2= NM_001291593.1:c.-1224C>T:5 prime UTR variant;NM_001291594.1:c.-1088+5960C>T:intron variant;NM_015102.4:c.6C>T:synonymous variant;NR_111987.1:n.274C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5992257 C A Variant 297833 RCV000262067;RCV000359155 283085 NPHP4 NM_015102.4:c.-52G>T NM_015102.4:c.-52G>T:5 prime UTR variant;NR_111987.1:n.217G>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5992295 T A Variant 297834 RCV000319568;RCV000371989 283086 NPHP4 NM_015102.4:c.-90A>T NM_015102.4:c.-90A>T:5 prime UTR variant;NR_111987.1:n.179A>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5992407 G A Variant 297835 RCV000260959;RCV000332443 281588 NPHP4 NM_015102.4:c.-202C>T NM_015102.4:c.-202C>T:5 prime UTR variant;NR_111987.1:n.67C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5992411 G T Variant 297836 RCV000292646;RCV000389299 280988 NPHP4 NM_015102.4:c.-206C>A NM_015102.4:c.-206C>A:5 prime UTR variant;NR_111987.1:n.63C>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5992430 C T Variant 297837 RCV000346570;RCV000384831 282784 NPHP4 NM_015102.4:c.-225G>A NM_015102.4:c.-225G>A:5 prime UTR variant;NR_111987.1:n.44G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5992440 C T Variant 297838 RCV000288159;RCV000345426 281592 NPHP4 NM_015102.4:c.-235G>A NM_015102.4:c.-235G>A:5 prime UTR variant;NR_111987.1:n.34G>A:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5992441 G A Variant 297839 RCV000287021;RCV000400674 283087 NPHP4 NM_015102.4:c.-236C>T NM_015102.4:c.-236C>T:5 prime UTR variant;NR_111987.1:n.33C>T:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 5992442 C G Variant 297840 RCV000339732;RCV000399861 283088 NPHP4 NM_015102.4:c.-237G>C NM_015102.4:c.-237G>C:5 prime UTR variant;NR_111987.1:n.32G>C:non-coding transcript variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 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 +1 6098509 A G Variant 218544 RCV000203075 215211 KCNAB2 NM_001199861.1:c.1039A>G NP_001186790.1:p.Ile347Val NM_001199861.1:c.1039A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 14, 2015 1 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 +1 6254689 G A Variant 208391 RCV000202336 204612 GPR153 NM_207370.3:c.217C>T NP_997253.2:p.Arg73Cys NM_207370.3:c.217C>T:missense variant Likely pathogenic 1 0 0 criteria provided, single submitter Jan 01, 2014 1 Dr. Guy Rouleau's laboratory,McGill University Childhood-Onset Schizophrenia;Childhood Onset Schizophrenia 26508570 de novo MeSH:D012561;MedGen:C0036346;Office of Rare Diseases:4766 +1 6428268 C T Variant 228670 RCV000217424 228498 ESPN NM_031475.2:c.337C>T NP_113663.2:p.Arg113Cys NM_031475.2:c.337C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 20, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6428313 G T Variant 180073 RCV000156876 172590 ESPN NM_031475.2:c.382G>T NP_113663.2:p.Gly128Cys NM_031475.2:c.382G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 02, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6428370 G A Variant 179234 RCV000156021 172452 ESPN NM_031475.2:c.439G>A NP_113663.2:p.Ala147Thr NM_031475.2:c.439G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 03, 2013 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6440984 C G Variant 226636 RCV000219021 228499 ESPN NM_031475.2:c.909C>G NP_113663.2:p.Arg303= NM_031475.2:c.909C>G:synonymous variant Benign 0 1 0 criteria provided, single submitter Oct 20, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6441006 C A Variant 228671 RCV000221051 228500 ESPN NM_031475.2:c.931C>A NP_113663.2:p.Leu311Met NM_031475.2:c.931C>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 05, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6444506 G A Variant 163411 RCV000150655 172591 ESPN NM_031475.2:c.1016G>A NP_113663.2:p.Arg339Gln NM_031475.2:c.1016G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Sep 11, 2014 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6444515 C T Variant 228668 RCV000220787 228501 ESPN NM_031475.2:c.1025C>T NP_113663.2:p.Ser342Phe NM_031475.2:c.1025C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter May 05, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6444538 C T Variant 163412 RCV000150656;RCV000477776 172453 ESPN NM_031475.2:c.1048C>T NP_113663.2:p.Pro350Ser NM_031475.2:c.1048C>T:missense variant Likely benign 0 1 0 criteria provided, single submitter Oct 22, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Division of Human Genetics,Children's Hospital of Philadelphia not specified;Not specified;Deafness, autosomal recessive 36, with or without vestibular involvement 24033266;20301607 Infancy germline;paternal MedGen:CN169374;GeneReviews:NBK1434;Genetic Alliance:Deafness%2C+autosomal+recessive+36%2C+with+or+without+vestibular+involvement/8173;MedGen:C1837007;OMIM:606351.0001;OMIM:606351.0002;OMIM:609006;Orphanet:90636 +1 6444539 C G Variant 227356 RCV000218932 228502 ESPN NM_031475.2:c.1049C>G NP_113663.2:p.Pro350Arg NM_031475.2:c.1049C>G:missense variant Likely benign 0 1 0 criteria provided, single submitter Jan 26, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6444559 C T Variant 178607 RCV000155360 172592 ESPN NM_031475.2:c.1069C>T NP_113663.2:p.Pro357Ser NM_031475.2:c.1069C>T:missense variant Benign 0 1 0 criteria provided, single submitter May 07, 2012 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6444570 G A Variant 227357 RCV000223461 228503 ESPN NM_031475.2:c.1080G>A NP_113663.2:p.Thr360= NM_031475.2:c.1080G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Feb 04, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6444584 C T Variant 179446 RCV000156235 172454 ESPN NM_031475.2:c.1094C>T NP_113663.2:p.Pro365Leu NM_031475.2:c.1094C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 12, 2013 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6444594 T G Variant 163413 RCV000150657;RCV000430501 172593 ESPN NM_031475.2:c.1104T>G NP_113663.2:p.Phe368Leu NM_031475.2:c.1104T>G:missense variant Benign 0 1 0 criteria provided, single submitter Apr 30, 2012 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;Not specified;not provided 24033266;25741868 germline MedGen:CN169374;MedGen:CN221809 +1 6444690 T C Variant 227358 RCV000215895 228504 ESPN NM_031475.2:c.1192+8T>C NM_031475.2:c.1192+8T>C:intron variant Likely benign 0 1 0 criteria provided, single submitter Feb 04, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6451634 G A Variant 227359 RCV000218825 228505 ESPN NM_031475.2:c.1947G>A NP_113663.2:p.Thr649= NM_031475.2:c.1947G>A:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Feb 26, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6451637 C T Variant 226633 RCV000218711 228506 ESPN NM_031475.2:c.1950C>T NP_113663.2:p.Gly650= NM_031475.2:c.1950C>T:synonymous variant Benign 0 1 0 criteria provided, single submitter May 07, 2012 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6451713 A G Variant 179396 RCV000156185 172455 ESPN NM_031475.2:c.2026A>G NP_113663.2:p.Thr676Ala NM_031475.2:c.2026A>G:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Oct 31, 2013 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6451755 G A Variant 226634 RCV000222342 228507 ESPN NM_031475.2:c.2061+7G>A NM_031475.2:c.2061+7G>A:intron variant Benign 0 1 0 criteria provided, single submitter Oct 15, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6451841 G A Variant 226635 RCV000215336 228508 ESPN NM_031475.2:c.2070G>A NP_113663.2:p.Ser690= NM_031475.2:c.2070G>A:synonymous variant Benign 0 1 0 criteria provided, single submitter Apr 30, 2012 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6451891 C T Variant 228669 RCV000213795 228509 ESPN NM_031475.2:c.2120C>T NP_113663.2:p.Pro707Leu NM_031475.2:c.2120C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 04, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6451926 A C Variant 4420 RCV000004670 19459 ESPN NM_031475.2:c.2155A>C NP_113663.2:p.Ser719Arg NM_031475.2:c.2155A>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 01, 2006 0 OMIM Deafness, without vestibular involvement, autosomal dominant;DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT 15930085 germline MedGen:CN068820 +1 6452001 G A Variant 4421 RCV000004671 19460 ESPN NM_031475.2:c.2230G>A NP_113663.2:p.Asp744Asn NM_031475.2:c.2230G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 01, 2006 0 OMIM Deafness, without vestibular involvement, autosomal dominant;DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT 15930085 germline MedGen:CN068820 +1 6452024 C T Variant 227360 RCV000223058 228510 ESPN NM_031475.2:c.2253C>T NP_113663.2:p.Pro751= NM_031475.2:c.2253C>T:synonymous variant Likely benign 0 1 0 criteria provided, single submitter Aug 11, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6452028 T C Variant 225044 RCV000210616 226886 ESPN NM_031475.2:c.2257T>C NP_113663.2:p.Trp753Arg NM_031475.2:c.2257T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter - 1 Ambry Genetics, Inborn genetic diseases;MR/ID/DD;Audiologic/Otolaryngologic (child onset);Musculoskeletal/Structural (child onset);Neurologic (child onset) 22947299,23037933,23169492,23619275,23652378,23881473,24022298,24121147,24394680,25356970,25560141,25626707,25730230 germline MeSH:D030342;MedGen:C0950123 +1 6452092 G A Variant 4422 RCV000004672 19461 ESPN NM_031475.2:c.2321G>A NP_113663.2:p.Arg774Gln NM_031475.2:c.2321G>A:missense variant Pathogenic 1 0 0 no assertion criteria provided Feb 01, 2006 0 OMIM Deafness, without vestibular involvement, autosomal dominant;DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT 15930085 germline MedGen:CN068820 +1 6457275 G A Variant 227361 RCV000216795 228511 ESPN NM_031475.2:c.2405+12G>A NM_031475.2:c.2405+12G>A:intron variant Likely benign 0 1 0 criteria provided, single submitter Mar 29, 2016 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6460085 G A Variant 163414 RCV000150658 172594 ESPN NM_031475.2:c.2504G>A NP_113663.2:p.Ser835Asn NM_031475.2:c.2504G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Nov 06, 2013 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6460152 G A Variant 227355 RCV000214566 228512 ESPN NM_031475.2:c.*6G>A NM_031475.2:c.*6G>A:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter May 27, 2015 1 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 +1 6466123 G A Variant 297904 RCV000399468 281043 TNFRSF25 NM_020631.4:c.*1440C>T NM_020631.4:c.*1440C>T:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466142 CCGTGCTCT C Variant 297905 RCV000302421 281645 TNFRSF25 NM_020631.4:c.*1413_*1420delAGAGCACG NM_020631.4:c.*1413_*1420delAGAGCACG:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466180 GCGCC G Variant 297906 RCV000361894 281648 TNFRSF25 NM_020631.4:c.*1379_*1382delGGCG NM_020631.4:c.*1379_*1382delGGCG:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466209 A G Variant 297907 RCV000267378 283149 PLEKHG5 NM_020631.4:c.*1354T>C NM_020631.4:c.*1354T>C:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466216 C A Variant 297908 RCV000317801 281650 PLEKHG5 NM_020631.4:c.*1347G>T NM_020631.4:c.*1347G>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466250 G A Variant 297909 RCV000354040 281654 PLEKHG5 NM_020631.4:c.*1313C>T NM_020631.4:c.*1313C>T:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466259 C T Variant 297910 RCV000263899 281658 PLEKHG5 NM_020631.4:c.*1304G>A NM_020631.4:c.*1304G>A:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466274 G C Variant 297911 RCV000318513 282863 PLEKHG5 NM_020631.4:c.*1289C>G NM_020631.4:c.*1289C>G:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466405 C G Variant 297912 RCV000387093 283150 PLEKHG5 NM_020631.4:c.*1158G>C NM_020631.4:c.*1158G>C:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466511 C T Variant 297913 RCV000274419 281660 PLEKHG5 NM_020631.4:c.*1052G>A NM_020631.4:c.*1052G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466547 T C Variant 297914 RCV000334142 283151 PLEKHG5 NM_020631.4:c.*1016A>G NM_020631.4:c.*1016A>G:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466557 G A Variant 297915 RCV000388631 282864 PLEKHG5 NM_020631.4:c.*1006C>T NM_020631.4:c.*1006C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466573 G A Variant 297916 RCV000289591 283153 PLEKHG5 NM_020631.4:c.*990C>T NM_020631.4:c.*990C>T:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466581 T TG Variant 297917 RCV000344475 281044 PLEKHG5 NM_020631.4:c.*981dupC NM_020631.4:c.*981dupC:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466658 C T Variant 297918 RCV000385045 283155 PLEKHG5 NM_020631.4:c.*905G>A NM_020631.4:c.*905G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466720 C A Variant 297919 RCV000284113 283156 PLEKHG5 NM_020631.4:c.*843G>T NM_020631.4:c.*843G>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466762 C T Variant 297920 RCV000339117 281048 PLEKHG5 NM_020631.4:c.*801G>A NM_020631.4:c.*801G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466788 A C Variant 297921 RCV000398989 281661 PLEKHG5 NM_020631.4:c.*775T>G NM_020631.4:c.*775T>G:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466797 TA T Variant 297922 RCV000304183 283165 PLEKHG5 NM_020631.4:c.*765delT NM_020631.4:c.*765delT:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466798 A T Variant 297923 RCV000335455 283157 PLEKHG5 NM_020631.4:c.*765T>A NM_020631.4:c.*765T>A:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466812 AG A Variant 297924 RCV000402408 283172 PLEKHG5 NM_020631.4:c.*750delC NM_020631.4:c.*750delC:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6466866 G A Variant 297925 RCV000300543 282865 PLEKHG5 NM_020631.4:c.*697C>T NM_020631.4:c.*697C>T:3 prime UTR variant Likely benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467008 A T Variant 297926 RCV000355377 281663 PLEKHG5 NM_020631.4:c.*555T>A NM_020631.4:c.*555T>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467200 G C Variant 297927 RCV000274872 281666 PLEKHG5 NM_020631.4:c.*363C>G Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467273 A G Variant 297928 RCV000311319 282866 PLEKHG5 NM_020631.4:c.*290T>C NM_020631.4:c.*290T>C:3 prime UTR variant Benign 0 1 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467371 C T Variant 297929 RCV000370553 282869 PLEKHG5 NM_020631.4:c.*192G>A NM_020631.4:c.*192G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467455 C T Variant 297930 RCV000276085 281049 PLEKHG5 NM_020631.4:c.*108G>A NM_020631.4:c.*108G>A:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467495 G A Variant 297931 RCV000326556 283173 PLEKHG5 NM_020631.4:c.*68C>T NM_020631.4:c.*68C>T:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467536 A G Variant 297932 RCV000381122 281054 PLEKHG5 NM_020631.4:c.*27T>C NM_020631.4:c.*27T>C:3 prime UTR variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467884 G A Variant 297933 RCV000272719 282872 PLEKHG5 NM_020631.4:c.2952C>T NP_065682.2:p.Thr984= NM_001265594.1:c.2752C>T:missense variant;NM_020631.4:c.2952C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6467936 C A Variant 246207 RCV000236324 244276 PLEKHG5 NM_020631.4:c.2900G>T NP_065682.2:p.Arg967Met NM_001265594.1:c.2738-38G>T:intron variant;NM_020631.4:c.2900G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 02, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 6467969 C T Variant 195526 RCV000236844 192687 PLEKHG5 NM_020631.4:c.2867G>A NP_065682.2:p.Arg956Lys NM_001265594.1:c.2738-71G>A:intron variant;NM_020631.4:c.2867G>A:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Feb 25, 2016 2 Emory Genetics Laboratory,Emory University;GeneDx not specified;not specified;not specified germline MedGen:CN169374 +1 6467988 C A Variant 246359 RCV000236991 244277 PLEKHG5 NM_020631.4:c.2848G>T NP_065682.2:p.Ala950Ser NM_001265594.1:c.2738-90G>T:intron variant;NM_020631.4:c.2848G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 09, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 6468009 C G Variant 287488 RCV000271172;RCV000327806 271725 PLEKHG5 NM_020631.4:c.2827G>C NP_065682.2:p.Gly943Arg NM_001265594.1:c.2737+90G>C:intron variant;NM_020631.4:c.2827G>C:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Emory Genetics Laboratory,Emory University;Illumina Clinical Services Laboratory,Illumina not specified;Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:CN169374;MedGen:C0393541;SNOMED CT:230247001 +1 6468034 G A Variant 282038 RCV000263498 266275 PLEKHG5 NM_020631.4:c.2802C>T NP_065682.2:p.Ser934= NM_001265594.1:c.2737+65C>T:intron variant;NM_020631.4:c.2802C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jul 28, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 6468074 TGAG T Variant 297934 RCV000377811 281667 PLEKHG5 NM_020631.4:c.2759_2761delCTC NP_065682.2:p.Pro920del NM_001265594.1:c.2737+22_2737+24delCTC:intron variant;NM_020631.4:c.2759_2761delCTC:inframe_variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6468090 T G Variant 297935 RCV000284414 281668 PLEKHG5 NM_020631.4:c.2746A>C NP_065682.2:p.Thr916Pro NM_001265594.1:c.2737+9A>C:intron variant;NM_020631.4:c.2746A>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6468116 A G Variant 195527 RCV000176112 192688 PLEKHG5 NM_020631.4:c.2720T>C NP_065682.2:p.Leu907Pro NM_020631.4:c.2720T>C:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 15, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 6468145 G A Variant 297936 RCV000341721 283176 PLEKHG5 NM_020631.4:c.2691C>T NP_065682.2:p.Ala897= NM_020631.4:c.2691C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6468202 G A Variant 297937 RCV000379985 282874 PLEKHG5 NM_020631.4:c.2634C>T NP_065682.2:p.Ser878= NM_020631.4:c.2634C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6468224 G A Variant 297938 RCV000278418 283179 PLEKHG5 NM_020631.4:c.2612C>T NP_065682.2:p.Pro871Leu NM_020631.4:c.2612C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6468227 G A Variant 246413 RCV000236354 244278 PLEKHG5 NM_020631.4:c.2609C>T NP_065682.2:p.Pro870Leu NM_020631.4:c.2609C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Feb 26, 2016 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 6468242 T C Variant 235230 RCV000224958;RCV000312080;RCV000335865 236918 PLEKHG5 NM_020631.4:c.2594A>G NP_065682.2:p.Gln865Arg NM_020631.4:c.2594A>G:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jul 21, 2016 2 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Emory Genetics Laboratory,Emory University;GeneDx;Illumina Clinical Services Laboratory,Illumina not provided;not specified;Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy 25741868 germline MedGen:CN221809;MedGen:CN169374;MedGen:C0393541;SNOMED CT:230247001 +1 6468254 C T Variant 297939 RCV000395914 282876 PLEKHG5 NM_020631.4:c.2582G>A NP_065682.2:p.Arg861His NM_020631.4:c.2582G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6468260 C T Variant 287487 RCV000300757;RCV000365803 271724 PLEKHG5 NM_020631.4:c.2576G>A NP_065682.2:p.Arg859His NM_020631.4:c.2576G>A:missense variant Benign;Likely benign 0 1 0 criteria provided, multiple submitters, no conflicts Jun 14, 2016 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy;not specified germline MedGen:C0393541;SNOMED CT:230247001;MedGen:CN169374 +1 6468272 G A Variant 195528 RCV000176113 192689 PLEKHG5 NM_020631.4:c.2564C>T NP_065682.2:p.Ser855Leu NM_020631.4:c.2564C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Apr 14, 2015 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 +1 6468293 C T Variant 297940 RCV000348442 282883 PLEKHG5 NM_020631.4:c.2543G>A NP_065682.2:p.Arg848Gln NM_020631.4:c.2543G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6468311 C T Variant 245769 RCV000235516 244279 PLEKHG5 NM_020631.4:c.2525G>A NP_065682.2:p.Arg842Gln NM_020631.4:c.2525G>A:missense variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Nov 13, 2015 2 GeneDx;Emory Genetics Laboratory,Emory University not specified;not specified;not specified germline MedGen:CN169374 +1 6468351 C A Variant 297941 RCV000390391 282886 PLEKHG5 NM_020631.4:c.2485G>T NP_065682.2:p.Asp829Tyr NM_020631.4:c.2485G>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy germline MedGen:C0393541;SNOMED CT:230247001 +1 6468378 C G Variant 60779 RCV000054546 75318 PLEKHG5 NM_020631.4:c.2458G>C NP_065682.2:p.Gly820Arg NM_020631.4:c.2458G>C:missense variant Pathogenic 1 0 0 no assertion criteria provided Jul 12, 2013 0 OMIM Charcot-Marie-Tooth disease, recessive intermediate c;CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C 23844677 Adult <1 / 1 000 000 germline MedGen:C3809309;OMIM:615376;Orphanet:369867 +1 6468378 C T Variant 234692 RCV000221669 231498 PLEKHG5 NM_001265593.1:c.2665G>A NP_001252522.1:p.Gly889Ser NM_020631.4:c.2458G>A:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Dec 29, 2015 1 GeneDx not specified;not specified germline MedGen:CN169374 +1 6468379 G A Variant 297942 RCV000313474;RCV000433148 282891 PLEKHG5 NM_020631.4:c.2457C>T NP_065682.2:p.Tyr819= NM_020631.4:c.2457C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, single submitter Jun 14, 2016 1 Illumina Clinical Services Laboratory,Illumina;GeneDx Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy;not specified germline MedGen:C0393541;SNOMED CT:230247001;MedGen:CN169374 +1 6468403 G A Variant 287911 RCV000370490;RCV000381489 272148 PLEKHG5 NM_020631.4:c.2433C>T NP_065682.2:p.Arg811= NM_020631.4:c.2433C>T:synonymous variant Uncertain significance 0 0 0 criteria provided, multiple submitters, no conflicts Jun 21, 2016 2 Illumina Clinical Services Laboratory,Illumina;Emory Genetics Laboratory,Emory University Distal spinal muscular atrophy;Distal Spinal Muscular Atrophy;not specified germline MedGen:C0393541;SNOMED CT:230247001;MedGen:CN169374 +1 6468405 G A Variant 290013 RCV000394398 274250 PLEKHG5 NM_020631.4:c.2431C>T NP_065682.2:p.Arg811Cys NM_020631.4:c.2431C>T:missense variant Uncertain significance 0 0 0 criteria provided, single submitter Aug 04, 2016 1 Emory Genetics Laboratory,Emory University not specified;not specified germline MedGen:CN169374 diff --git a/output/b38/single/clinvar_alleles_example_750_rows.single.b38.vcf b/output/b38/single/clinvar_alleles_example_750_rows.single.b38.vcf index 61078b4..65ae03d 100644 --- a/output/b38/single/clinvar_alleles_example_750_rows.single.b38.vcf +++ b/output/b38/single/clinvar_alleles_example_750_rows.single.b38.vcf @@ -53,7 +53,7 @@ 1 1014143 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=183381;RCV=RCV000162196;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=25307056;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:CN221808|OMIM:616126|Orphanet:319563 1 1014316 . C CG . . MEASURESET_TYPE=Variant;MEASURESET_ID=161455;RCV=RCV000148989;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=1..22859821..25307056;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:CN221808|OMIM:616126|Orphanet:319563 1 1014359 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=161454;RCV=RCV000148988;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=22859821..25307056;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=MedGen:CN221808|OMIM:616126|Orphanet:319563 -1 1020217 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128310;RCV=RCV000116272;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1020217 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128310;RCV=RCV000116272;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1020239 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=210112;RCV=RCV000193277;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1022188 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=263166;RCV=RCV000250556;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1022225 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=243036;RCV=RCV000235037;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347..24951643;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462 @@ -63,23 +63,23 @@ 1 1041174 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=263202;RCV=RCV000241878;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1041183 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263203;RCV=RCV000246662;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1041218 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263204;RCV=RCV000249809;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1041249 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128320;RCV=RCV000116282;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1041249 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128320;RCV=RCV000116282;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified;ALL_PMIDS=18414213;ORIGIN=germline;XREFS=MedGen:CN169374 1 1041582 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=126556;RCV=RCV000114428|RCV000235030;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=22205389|20301347;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3808739|OMIM:615120|Orphanet:590|GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462 -1 1041583 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=128291;RCV=RCV000116253;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1041648 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263158;RCV=RCV000243499;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1041950 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128292;RCV=RCV000116254;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1041583 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=128291;RCV=RCV000116253;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1041648 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263158;RCV=RCV000243499|RCV000430046;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|Emory_Genetics_Laboratory..Emory_University|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 +1 1041950 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128292;RCV=RCV000116254;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1042136 . T TC . . MEASURESET_TYPE=Variant;MEASURESET_ID=243038;RCV=RCV000235036;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462 1 1042190 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263159;RCV=RCV000251375;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1043223 . CCT C . . MEASURESET_TYPE=Variant;MEASURESET_ID=263160;RCV=RCV000244801;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1043248 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263161;RCV=RCV000249555;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1043288 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263162;RCV=RCV000254334;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1043382 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263163;RCV=RCV000244472;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1043382 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263163;RCV=RCV000244472;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1043476 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263164;RCV=RCV000249242;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1043594 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263165;RCV=RCV000254010;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1044017 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=210106;RCV=RCV000192681;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1044134 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=128293;RCV=RCV000116255;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1044176 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263167;RCV=RCV000245482;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1044368 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128294;RCV=RCV000116256;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1044368 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128294;RCV=RCV000116256;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1044455 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263168;RCV=RCV000242021;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1045172 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263169;RCV=RCV000245180;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1045177 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263170;RCV=RCV000249944;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 @@ -95,15 +95,15 @@ 1 1045973 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=235570;RCV=RCV000224244;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 1046079 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263177;RCV=RCV000244043;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1046488 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263178;RCV=RCV000248800;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1046551 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=128297;RCV=RCV000116259;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1046551 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=128297;RCV=RCV000116259;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1046562 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263179;RCV=RCV000245361;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1046833 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128298;RCV=RCV000116260;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1046833 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128298;RCV=RCV000116260|RCV000431747;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..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 1 1046976 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263180;RCV=RCV000253262;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1047342 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=128299;RCV=RCV000116261;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1047403 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128300;RCV=RCV000116262;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1047464 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128301;RCV=RCV000116263;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1047561 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=263181;RCV=RCV000246305;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1047614 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128302;RCV=RCV000116264;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1047464 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128301;RCV=RCV000116263;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1047561 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=263181;RCV=RCV000246305;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1047614 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128302;RCV=RCV000116264;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1047626 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128303;RCV=RCV000116265;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1047863 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263182;RCV=RCV000247622;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1047876 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=210108;RCV=RCV000195120;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 @@ -112,50 +112,50 @@ 1 1048224 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128305;RCV=RCV000116267;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1048232 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=128306;RCV=RCV000116268;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1048877 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=210110;RCV=RCV000193826;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1048922 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128307;RCV=RCV000116269;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1048922 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128307;RCV=RCV000116269;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1049046 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263183;RCV=RCV000248636;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1049070 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263184;RCV=RCV000251783;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1049289 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263185;RCV=RCV000243502;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1049389 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128308;RCV=RCV000116270;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1049467 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=263186;RCV=RCV000253016;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1049467 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=263186;RCV=RCV000253016;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1049569 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263187;RCV=RCV000244907;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1049591 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=128309;RCV=RCV000116271;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1049690 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=252808;RCV=RCV000238604;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374 +1 1049690 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=252808;RCV=RCV000238604;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline|unknown;XREFS=MedGen:CN169374 1 1049791 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128311;RCV=RCV000116273;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1049886 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263188;RCV=RCV000250964;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1049886 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263188;RCV=RCV000250964;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1049927 . GCCCCTGCCAGCCCAA G . . MEASURESET_TYPE=Variant;MEASURESET_ID=291137;RCV=RCV000296346;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 1049997 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263189;RCV=RCV000254107;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1050027 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=282708;RCV=RCV000405008;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 1050054 . T A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263190;RCV=RCV000245933;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1050066 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263191;RCV=RCV000250684;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1050069 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263192;RCV=RCV000242423;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1050417 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=263193;RCV=RCV000247197;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1050446 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=128312;RCV=RCV000116274;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1050417 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=263193;RCV=RCV000247197;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1050446 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=128312;RCV=RCV000116274;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1050473 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=243039;RCV=RCV000235025;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462 -1 1050475 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263194;RCV=RCV000242085;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1050520 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128313;RCV=RCV000116275;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1050475 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263194;RCV=RCV000242085;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1050520 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128313;RCV=RCV000116275;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1050575 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=18241;RCV=RCV000019902|RCV000235029;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=19631309|19631309..20301347;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3808739|OMIM:615120|Orphanet:590|GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462 1 1050763 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=126555;RCV=RCV000114427|RCV000235038;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=22205389|20301347..22205389;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;XREFS=MedGen:C3808739|OMIM:615120|Orphanet:590|GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462 -1 1050785 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263195;RCV=RCV000251658;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1050785 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263195;RCV=RCV000251658;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1051336 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263196;RCV=RCV000246601;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1051351 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263197;RCV=RCV000252836;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1051352 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=128314;RCV=RCV000116276|RCV000244639;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=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_provided|not_specified|NOT_SPECIFIED;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN169374 -1 1051357 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128315;RCV=RCV000116277;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1051380 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263198;RCV=RCV000254171;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1051352 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=128314;RCV=RCV000116276|RCV000244639;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=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_provided|not_specified|NOT_SPECIFIED;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN169374 +1 1051357 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128315;RCV=RCV000116277;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1051380 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263198;RCV=RCV000254171;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1051762 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128316;RCV=RCV000116278;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1051775 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=243040;RCV=RCV000235024;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462 1 1051811 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263199;RCV=RCV000249073;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1051820 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128317;RCV=RCV000116279;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1051820 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128317;RCV=RCV000116279;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1053827 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=128318;RCV=RCV000116280;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1054431 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263200;RCV=RCV000250424;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1054897 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263201;RCV=RCV000253570;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1054900 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128319;RCV=RCV000116281;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1055000 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263157;RCV=RCV000252490;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1054900 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=128319;RCV=RCV000116281;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1055000 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263157;RCV=RCV000252490;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 1213738 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=96692;RCV=RCV000082860;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=IMMUNODEFICIENCY_16_(1_patient)|IMMUNODEFICIENCY_16_(1_patient);ALL_PMIDS=23897980;ORIGIN=germline;XREFS=OMIM:600315.0001 1 1232279 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=60484;RCV=RCV000054390;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 1232294 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=60493;RCV=RCV000054399;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496 1 1232300 . T G . . MEASURESET_TYPE=Variant;MEASURESET_ID=193479;RCV=RCV000173551;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1232416 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=193478;RCV=RCV000173550;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1232416 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=193478;RCV=RCV000173550;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 1232458 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=288791;RCV=RCV000380808;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 1232471 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=60488;RCV=RCV000054394;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 1232478 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=60489;RCV=RCV000054395;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 @@ -163,9 +163,9 @@ 1 1232684 . GTGCTGGCCA G . . MEASURESET_TYPE=Variant;MEASURESET_ID=60494;RCV=RCV000054400;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496 1 1232744 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=60486;RCV=RCV000054392;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 1232793 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=373234;RCV=RCV000413594;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 1232800 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=281204;RCV=RCV000287240;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1232800 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=281204;RCV=RCV000287240;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 1232859 . CG C . . MEASURESET_TYPE=Variant;MEASURESET_ID=60492;RCV=RCV000054398;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496 -1 1232865 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=281706;RCV=RCV000408441;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 1232865 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=281706;RCV=RCV000408441;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 1232897 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=60495;RCV=RCV000054401;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 1 1232927 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=60496;RCV=RCV000054402;ALLELE_ID=75091;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.649G>A;HGVS_P=NP_542172.2:p.Gly217Ser;MOLECULAR_CONSEQUENCE=NM_080605.3:c.649G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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 1 1232972 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=60485;RCV=RCV000054391;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 @@ -186,8 +186,8 @@ 1 1338098 . GGGGGCAGCCGGGT G . . MEASURESET_TYPE=Variant;MEASURESET_ID=208044;RCV=RCV000193850;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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..25817016;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;XREFS=Genetics_Home_Reference:robinow-syndrome|MedGen:CN229715|OMIM:616331|Orphanet:3107|Orphanet:97360 1 1338107 . CG C . . MEASURESET_TYPE=Variant;MEASURESET_ID=208046;RCV=RCV000192930;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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..25817016;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;XREFS=Genetics_Home_Reference:robinow-syndrome|MedGen:CN229715|OMIM:616331|Orphanet:3107|Orphanet:97360 1 1338529 . G GGCATTGGC . . MEASURESET_TYPE=Variant;MEASURESET_ID=373812;RCV=RCV000413003;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809 -1 1512426 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=225697;RCV=RCV000412620;ALLELE_ID=227512;SYMBOL=ATAD3A;HGVS_C=NM_001170535.1:c.158C>T;HGVS_P=NP_001164006.1:p.Thr53Ile;MOLECULAR_CONSEQUENCE=NM_001170535.1:c.158C>T:missense_variant|NM_001170536.1:c.-297C>T:2KB_upstream_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HAREL-YOON_SYNDROME|HAREL-YOON_SYNDROME..AUTOSOMAL_RECESSIVE;ALL_PMIDS=27640307;ORIGIN=germline;XREFS=MedGen:CN239114|OMIM:612316.0001|OMIM:617183 -1 1529299 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=225696;RCV=RCV000412539;ALLELE_ID=227511;SYMBOL=ATAD3A;HGVS_C=NM_001170535.1:c.1582C>T;HGVS_P=NP_001164006.1:p.Arg528Trp;MOLECULAR_CONSEQUENCE=NM_001170535.1:c.1582C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=HAREL-YOON_SYNDROME|HAREL-YOON_SYNDROME;ALL_PMIDS=27640307;ORIGIN=de_novo|unknown;XREFS=MedGen:CN239114|OMIM:612316.0001|OMIM:617183 +1 1512426 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=225697;RCV=RCV000412620;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=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=HAREL-YOON_SYNDROME|HAREL-YOON_SYNDROME..AUTOSOMAL_RECESSIVE;ALL_PMIDS=27640307;ORIGIN=germline;XREFS=MedGen:CN239114|OMIM:612316.0001|OMIM:617183 +1 1529299 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=225696;RCV=RCV000412539;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=HAREL-YOON_SYNDROME|HAREL-YOON_SYNDROME;ALL_PMIDS=27640307;ORIGIN=de_novo|unknown;XREFS=MedGen:CN239114|OMIM:612316.0001|OMIM:617183 1 1535370 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=161196;RCV=RCV000148348;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773 1 1535372 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=161192;RCV=RCV000148344|RCV000322616;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM|GeneDx;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21|not_provided|Not_Provided;ALL_PMIDS=11160961..20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773|MedGen:CN221809 1 1535392 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=161193;RCV=RCV000148345;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773 @@ -196,15 +196,15 @@ 1 1535723 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=161195;RCV=RCV000148347;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773 1 1535766 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=372833;RCV=RCV000413958;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809 1 1615612 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=218832;RCV=RCV000202894;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374 -1 1787378 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=224718;RCV=RCV000210260;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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;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:C1843367|MedGen:C1959629|MedGen:CN001147|MedGen:CN001157|MedGen:CN001871 -1 1804548 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224717;RCV=RCV000210283|RCV000225171;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;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;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:C1836830|MedGen:C1843367|MedGen:C1847610|MedGen:C1959629|MedGen:CN001147|MedGen:CN001157|MedGen:CN001871|MedGen:CN002165|MedGen:CN116575|MedGen:CN166927|MedGen:CN236792|OMIM:616973 -1 1804565 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=224716;RCV=RCV000210270;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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;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:C0038379|MedGen:C0231246|MedGen:C0232466|MedGen:C0560046|MedGen:C1838391|MedGen:C1843367|MedGen:C1847610|MedGen:C1959629|MedGen:C1963184|MedGen:CN001147|MedGen:CN001157|MedGen:CN001379|MedGen:CN116575|MedGen:CN117595 -1 1806503 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=208722;RCV=RCV000190738|RCV000208571|RCV000210259|RCV000225179|RCV000225295;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=Pathogenic|Uncertain_significance;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;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;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;ALL_PMIDS=22947299..23037933..23169492..23619275..23652378..23881473..24022298..24121147..24394680..25356970..25560141..25626707..25730230|20301334..21956720..25485910|21956720|25485910..27108799;INHERITANCE_MODES=Autosomal_dominant_inheritance|Somatic_mutation;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline|de_novo|unknown|somatic;XREFS=MeSH:D030342|MedGen:C0950123|GeneReviews:NBK1155|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:C0393593|MedGen:C1843367|MedGen:C1970931|MedGen:C2750951|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:C0038379|MedGen:C0231246|MedGen:C0560046|MedGen:C1836830|MedGen:C1838391|MedGen:C1847610|MedGen:C1959629|MedGen:C1963184|MedGen:CN001147|MedGen:CN001157|MedGen:CN116575|MedGen:CN166927|MedGen:CN236792|OMIM:616973|Genetic_Alliance:Myelodysplastic+syndromes/5021|Genetic_Testing_Registry_(GTR):GTR000501848|Genetic_Testing_Registry_(GTR):GTR000508338|Genetic_Testing_Registry_(GTR):GTR000518980|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520187|Genetic_Testing_Registry_(GTR):GTR000520395|Genetic_Testing_Registry_(GTR):GTR000521830|Genetic_Testing_Registry_(GTR):GTR000525847|Genetic_Testing_Registry_(GTR):GTR000525900|Genetic_Testing_Registry_(GTR):GTR000525905|Genetic_Testing_Registry_(GTR):GTR000527980|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000529055|Genetic_Testing_Registry_(GTR):GTR000529137|Genetic_Testing_Registry_(GTR):GTR000530327|Genetic_Testing_Registry_(GTR):GTR000530631|Genetic_Testing_Registry_(GTR):GTR000531723|Genetic_Testing_Registry_(GTR):GTR000531726|Genetic_Testing_Registry_(GTR):GTR000552115|MedGen:C0026986|OMIM:137295.0002|OMIM:137295.0014|OMIM:614286|Orphanet:52688 -1 1806503 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=224715;RCV=RCV000210280|RCV000225195|RCV000225283;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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|25485910..27108799;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;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:C0231246|MedGen:C0232466|MedGen:C1838391|MedGen:C1959629|MedGen:CN001147|MedGen:CN001157|MedGen:CN001379|MedGen:CN002165|MedGen:CN007871|MedGen:CN116575|MedGen:CN117595|MedGen:CN236792|OMIM:616973|Gene:100310785|Genetic_Alliance:Acute+Lymphoblastic+Leukemia/188|MedGen:C0023449|OMIM:613065|Office_of_Rare_Diseases:522|Orphanet:513|SNOMED_CT:91857003 -1 1806509 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224714;RCV=RCV000210269|RCV000225134;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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:C0038379|MedGen:C0232466|MedGen:C1959629|MedGen:CN001147|MedGen:CN001157|MedGen:CN001379|MedGen:CN007871|MedGen:CN166927|MedGen:CN236792|OMIM:616973 -1 1806513 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=224713;RCV=RCV000210256;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Global_developmental_delay|Muscular_hypotonia;ALL_PMIDS=21956720;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:CN001147|MedGen:CN001157 -1 1806514 . A C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224712;RCV=RCV000210277;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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;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:C0038379|MedGen:C0231246|MedGen:C1838391|MedGen:C1959629|MedGen:CN001157|MedGen:CN002165 -1 1806515 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224711;RCV=RCV000210265|RCV000225254|RCV000225357;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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|25485910..27108799;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;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:CN001147|MedGen:CN001157|MedGen:CN007871|MedGen:CN236792|OMIM:616973|Gene:100310785|Genetic_Alliance:Acute+Lymphoblastic+Leukemia/188|MedGen:C0023449|OMIM:613065|Office_of_Rare_Diseases:522|Orphanet:513|SNOMED_CT:91857003 +1 1787378 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=224718;RCV=RCV000210260;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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;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 +1 1804548 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224717;RCV=RCV000210283|RCV000225171|RCV000480671;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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:CN236792|OMIM:616973|MedGen:CN221809 +1 1804565 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=224716;RCV=RCV000210270;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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;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 +1 1806503 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=208722;RCV=RCV000190738|RCV000208571|RCV000210259|RCV000225179|RCV000225295|RCV000418135;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=Pathogenic|Uncertain_significance;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;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;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|20301334..21956720..25485910|21956720|25485910..27108799;INHERITANCE_MODES=Autosomal_dominant_inheritance|Somatic_mutation;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline|de_novo|unknown|somatic;XREFS=MeSH:D030342|MedGen:C0950123|GeneReviews:NBK1155|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:CN236792|OMIM:616973|Genetic_Alliance:Myelodysplastic+syndromes/5021|Genetic_Testing_Registry_(GTR):GTR000501848|Genetic_Testing_Registry_(GTR):GTR000508338|Genetic_Testing_Registry_(GTR):GTR000518980|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520187|Genetic_Testing_Registry_(GTR):GTR000520395|Genetic_Testing_Registry_(GTR):GTR000521830|Genetic_Testing_Registry_(GTR):GTR000525847|Genetic_Testing_Registry_(GTR):GTR000525900|Genetic_Testing_Registry_(GTR):GTR000525905|Genetic_Testing_Registry_(GTR):GTR000527980|Genetic_Testing_Registry_(GTR):GTR000528909|Genetic_Testing_Registry_(GTR):GTR000529055|Genetic_Testing_Registry_(GTR):GTR000529137|Genetic_Testing_Registry_(GTR):GTR000530327|Genetic_Testing_Registry_(GTR):GTR000530631|Genetic_Testing_Registry_(GTR):GTR000531723|Genetic_Testing_Registry_(GTR):GTR000531726|Genetic_Testing_Registry_(GTR):GTR000552115|MeSH:D009190|MedGen:C0026986|OMIM:137295.0002|OMIM:137295.0014|OMIM:614286|Orphanet:52688|MedGen:CN221809 +1 1806503 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=224715;RCV=RCV000210280|RCV000225195|RCV000225283;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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|25485910..27108799;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;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:CN236792|OMIM:616973|Gene:100310785|Genetic_Alliance:Acute+Lymphoblastic+Leukemia/188|MedGen:C0023449|OMIM:613065|Office_of_Rare_Diseases:522|Orphanet:513|SNOMED_CT:91857003 +1 1806509 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224714;RCV=RCV000210269|RCV000225134;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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:CN236792|OMIM:616973 +1 1806513 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=224713;RCV=RCV000210256;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Global_developmental_delay|Muscular_hypotonia;ALL_PMIDS=21956720;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 +1 1806514 . A C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224712;RCV=RCV000210277;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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;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 +1 1806515 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224711;RCV=RCV000210265|RCV000225254|RCV000225357;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=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|25485910..27108799;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;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:CN236792|OMIM:616973|Gene:100310785|Genetic_Alliance:Acute+Lymphoblastic+Leukemia/188|MedGen:C0023449|OMIM:613065|Office_of_Rare_Diseases:522|Orphanet:513|SNOMED_CT:91857003 1 2024923 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=256824;RCV=RCV000245842;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 2025020 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=374418;RCV=RCV000416042;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809 1 2025598 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=256823;RCV=RCV000254456;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 @@ -214,98 +214,96 @@ 1 2029194 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=235308;RCV=RCV000224860;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 2029235 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=256825;RCV=RCV000248963;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 2029969 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=256822;RCV=RCV000249647;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2030031 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=375540;RCV=RCV000417018;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Neurogenetics_Laboratory_-_MEYER..AOU_Meyer;ALL_TRAITS=Epileptic_encephalopathy;ALL_PMIDS=25741868;ORIGIN=unknown;XREFS=Human_Phenotype_Ontology:HP:0200134|MedGen:C0543888|MedGen:CN176791 +1 2030031 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=375540;RCV=RCV000417018;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Neurogenetics_Laboratory_-_MEYER..AOU_Meyer;ALL_TRAITS=Epileptic_encephalopathy;ALL_PMIDS=25741868;ORIGIN=unknown;XREFS=Human_Phenotype_Ontology:HP:0200134|MedGen:C0543888 1 2228828 . T G . . MEASURESET_TYPE=Variant;MEASURESET_ID=224869;RCV=RCV000210450;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454..23023332;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2228860 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=37259;RCV=RCV000030817;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2228865 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=139112;RCV=RCV000173298|RCV000226611;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics..PreventionGenetics|Invitae;ALL_TRAITS=not_specified|Not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266..25741868|20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2228866 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=37261;RCV=RCV000030819|RCV000200686;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2228866 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=37262;RCV=RCV000030820|RCV000197434;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME|not_provided;ALL_PMIDS=20301454..23023332..23103230;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2228866 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=37262;RCV=RCV000030820;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332..23103230;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2228867 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=37260;RCV=RCV000030818;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332..24736733;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2228867 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=39783;RCV=RCV000033005;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23103230..24736733;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2228869 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=39786;RCV=RCV000033008;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2228870 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=39785;RCV=RCV000033007;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23103230;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2228904 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213665;RCV=RCV000198300;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2228951 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=139113;RCV=RCV000128047;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|not_specified|Not_specified|NOT_SPECIFIED;ALL_PMIDS=24033266..25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2228982 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=193249;RCV=RCV000204079|RCV000225703|RCV000242995;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=Benign|Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Invitae|Emory_Genetics_Laboratory..Emory_University|GeneDx|PreventionGenetics..PreventionGenetics|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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 -1 2229005 . A AGCC . . MEASURESET_TYPE=Variant;MEASURESET_ID=264471;RCV=RCV000250462;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 2228982 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=193249;RCV=RCV000204079|RCV000225703|RCV000242995;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=Benign|Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Invitae|Emory_Genetics_Laboratory..Emory_University|GeneDx|PreventionGenetics..PreventionGenetics|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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2229005 . A AGCC . . MEASURESET_TYPE=Variant;MEASURESET_ID=264471;RCV=RCV000250462;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 2229045 . GTCCGACCGC G . . MEASURESET_TYPE=Variant;MEASURESET_ID=37263;RCV=RCV000030821;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2229045 . GTCCGACCGCTCC G . . MEASURESET_TYPE=Variant;MEASURESET_ID=39784;RCV=RCV000033006;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23103230;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2229060 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213681;RCV=RCV000198732|RCV000254475;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|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 -1 2229077 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=264417;RCV=RCV000246817;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 -1 2229078 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227947;RCV=RCV000215560;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2229060 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213681;RCV=RCV000198732|RCV000254475|RCV000467477;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=PreventionGenetics..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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2229077 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=264417;RCV=RCV000246817;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 2229078 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227947;RCV=RCV000215560;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 2229113 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=37258;RCV=RCV000030816;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2229115 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=224868;RCV=RCV000210472;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454..23023332;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2229118 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=222819;RCV=RCV000208203;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2229126 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213682;RCV=RCV000200253;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2229159 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=264423;RCV=RCV000254423;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 +1 2229126 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213682;RCV=RCV000200253|RCV000461600;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2229159 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=264423;RCV=RCV000254423;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 2229183 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213683;RCV=RCV000196335|RCV000234780;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2229222 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=139111;RCV=RCV000128045|RCV000228536|RCV000245385;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2229230 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=373594;RCV=RCV000413541;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2229222 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=139111;RCV=RCV000128045|RCV000228536|RCV000245385;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2229230 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=373594;RCV=RCV000413541|RCV000461900;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2229237 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=239478;RCV=RCV000232451|RCV000247169;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Invitae|PreventionGenetics..PreventionGenetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified|NOT_SPECIFIED;ALL_PMIDS=20301454|25741868;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2229253 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=239479;RCV=RCV000234052;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2229261 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=258901;RCV=RCV000250311;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 2229265 . CT GG . . MEASURESET_TYPE=Variant;MEASURESET_ID=213703;RCV=RCV000200337;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809 1 2229305 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213684;RCV=RCV000198523;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2229391 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=264172;RCV=RCV000242214;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 +1 2229391 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=264172;RCV=RCV000242214;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 2229406 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=213685;RCV=RCV000200824;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2229564 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=193248;RCV=RCV000225717|RCV000243648;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=Benign|Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx|PreventionGenetics..PreventionGenetics|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 +1 2229564 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=193248;RCV=RCV000225717|RCV000243648|RCV000465929;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=Benign|Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx|PreventionGenetics..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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2229565 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213663;RCV=RCV000200723|RCV000228953;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2229610 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=264492;RCV=RCV000251439;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 +1 2229610 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=264492;RCV=RCV000251439;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 2229685 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213686;RCV=RCV000196881;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2229704 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=213687;RCV=RCV000199076;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2229714 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213664;RCV=RCV000196098|RCV000231718;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2229730 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=264199;RCV=RCV000252076;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 -1 2302971 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=289941;RCV=RCV000284270;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2229730 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=264199;RCV=RCV000252076;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 2302971 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=289941;RCV=RCV000284270;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303008 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213688;RCV=RCV000198950;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2303041 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213666;RCV=RCV000200606;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2303041 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213666;RCV=RCV000200606|RCV000474882;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2303078 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213689;RCV=RCV000195711;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303089 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=222820;RCV=RCV000208423;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2303101 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=213706;RCV=RCV000200205;ALLELE_ID=209460;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1093A>G;HGVS_P=NP_003027.1:p.Lys365Glu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1093A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303328 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213690;RCV=RCV000197996;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303351 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213667;RCV=RCV000197343;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2303352 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213668;RCV=RCV000198871|RCV000204037;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2303352 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213668;RCV=RCV000198871|RCV000204037|RCV000436746;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2303372 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213691;RCV=RCV000198841;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303385 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213692;RCV=RCV000195594|RCV000227742;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2303410 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213669;RCV=RCV000200400;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2303410 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213669;RCV=RCV000200400|RCV000470601;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2303411 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213670;RCV=RCV000197227;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303417 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=258899;RCV=RCV000248676;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2303419 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=258900;RCV=RCV000251824;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2303419 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=258900;RCV=RCV000251824;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303832 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213671;RCV=RCV000199440|RCV000415889;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=Benign|Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809 1 2303871 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=222821;RCV=RCV000208100;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=Marfanoid_habitus;ORIGIN=germline;XREFS=MedGen:C1839796 1 2303875 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213693;RCV=RCV000197794;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303886 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=220793;RCV=RCV000205977;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2303891 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263904;RCV=RCV000252813;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 +1 2303891 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=263904;RCV=RCV000252813;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 2303892 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213707;RCV=RCV000196970;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2303929 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213694;RCV=RCV000200090;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2303937 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263895;RCV=RCV000251995;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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|MedGen:CN118826|OMIM:PS607086|Orphanet:91387 -1 2303939 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=227946;RCV=RCV000221218;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2303939 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=139114;RCV=RCV000128048|RCV000229389|RCV000249261;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|Emory_Genetics_Laboratory..Emory_University|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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2303937 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=263895;RCV=RCV000251995|RCV000474123;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2303939 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=227946;RCV=RCV000221218|RCV000462719;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2303939 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=139114;RCV=RCV000128048|RCV000229389|RCV000249261;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|Emory_Genetics_Laboratory..Emory_University|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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2303966 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213672;RCV=RCV000195511;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2304038 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213673;RCV=RCV000197717;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2304038 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213673;RCV=RCV000197717|RCV000458443;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2304048 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=373583;RCV=RCV000413715;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2304074 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=139115;RCV=RCV000178187|RCV000233299|RCV000249175;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2304074 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=139115;RCV=RCV000178187|RCV000233299|RCV000249175;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2304084 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229252;RCV=RCV000218491;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2304298 . T A . . MEASURESET_TYPE=Variant;MEASURESET_ID=373745;RCV=RCV000414146;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2304345 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213674;RCV=RCV000199331|RCV000245139;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|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 +1 2304298 . T A . . MEASURESET_TYPE=Variant;MEASURESET_ID=373745;RCV=RCV000414146|RCV000460773;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2304345 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213674;RCV=RCV000199331|RCV000245139;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|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 1 2304346 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213695;RCV=RCV000195482;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2304373 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213696;RCV=RCV000197672;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2304374 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213675;RCV=RCV000196080;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2304386 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=180522;RCV=RCV000157499;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=Arterial_dissection|Arterial_dissection;ORIGIN=germline;XREFS=Human_Phenotype_Ontology:HP:0005294|MedGen:CN004695 +1 2304386 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=180522;RCV=RCV000157499;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=Arterial_dissection|Arterial_dissection;ORIGIN=germline;XREFS=Human_Phenotype_Ontology:HP:0005294|MedGen:C0002949|MedGen:CN004695 1 2304391 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213676;RCV=RCV000197599;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2304398 . ATGC A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213704;RCV=RCV000197075;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2304411 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=213677;RCV=RCV000199803;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2304411 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=213677;RCV=RCV000199803|RCV000466338;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|PreventionGenetics..PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2304437 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213697;RCV=RCV000199881;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2304450 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213678;RCV=RCV000196639;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2304591 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=239476;RCV=RCV000227068;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2306080 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213708;RCV=RCV000199152;ALLELE_ID=209483;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1828C>A;HGVS_P=NP_003027.1:p.Arg610Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1828C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 2306086 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=139116;RCV=RCV000179418|RCV000230962|RCV000243796;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics..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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2306103 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=198156;RCV=RCV000179419;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2306086 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=139116;RCV=RCV000179418|RCV000230962|RCV000243796;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics..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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2306103 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=198156;RCV=RCV000179419|RCV000473994;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2306122 . GAGA G . . MEASURESET_TYPE=Variant;MEASURESET_ID=213705;RCV=RCV000198612;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2306129 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=213698;RCV=RCV000196715;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2306142 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=198155;RCV=RCV000246302;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 2306223 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=239477;RCV=RCV000233767;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2306226 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=139117;RCV=RCV000179417|RCV000227524;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 -1 2306585 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=213699;RCV=RCV000198240|RCV000230294|RCV000243311;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|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 +1 2306585 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=213699;RCV=RCV000198240|RCV000230294|RCV000243311;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|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;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 1 2306634 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213709;RCV=RCV000195941;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2306706 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=213710;RCV=RCV000196830;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2306719 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=213679;RCV=RCV000197481;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 @@ -346,20 +344,20 @@ 1 2406558 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=286808;RCV=RCV000407787;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2406561 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=282334;RCV=RCV000289565;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A;AGE_OF_ONSET=Neonatal;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 1 2406566 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=162432;RCV=RCV000149810;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=19127411..6;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44 -1 2406576 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=197887;RCV=RCV000179027;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 +1 2406576 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=197887;RCV=RCV000179027;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..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 1 2406580 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=289743;RCV=RCV000264178;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2406580 . CAG C . . MEASURESET_TYPE=Variant;MEASURESET_ID=296273;RCV=RCV000337969|RCV000409050|RCV000411962;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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|12794690;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline|unknown;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetic_Testing_Registry_(GTR):GTR000552033|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 1 2406584 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=289191;RCV=RCV000281616;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2406585 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=286993;RCV=RCV000388149;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2406712 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=296274;RCV=RCV000400274;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetic_Testing_Registry_(GTR):GTR000552033|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006 -1 2406719 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=225040;RCV=RCV000210672;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 2406719 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=225040;RCV=RCV000210672;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 2406723 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=290110;RCV=RCV000268088;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2406736 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=296275;RCV=RCV000297739;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetic_Testing_Registry_(GTR):GTR000552033|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006 1 2406766 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=162435;RCV=RCV000149813;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44 1 2406784 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=197385;RCV=RCV000178398;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2406785 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=296276;RCV=RCV000354897;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetic_Testing_Registry_(GTR):GTR000552033|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006 1 2406791 . C CT . . MEASURESET_TYPE=Variant;MEASURESET_ID=6774;RCV=RCV000007176|RCV000149808|RCV000324305;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_100_000;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 -1 2406811 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=296277;RCV=RCV000408360;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetic_Testing_Registry_(GTR):GTR000552033|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006 +1 2406811 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=296277;RCV=RCV000408360|RCV000425126;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetic_Testing_Registry_(GTR):GTR000552033|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:CN221809 1 2406855 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=291156;RCV=RCV000343088;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 2406885 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=197386;RCV=RCV000178399|RCV000315166;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetic_Testing_Registry_(GTR):GTR000552033|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006 1 2406970 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=296278;RCV=RCV000367525;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Neonatal;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetic_Testing_Registry_(GTR):GTR000552033|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006 @@ -420,87 +418,87 @@ 1 2563206 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=135356;RCV=RCV000122171;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374 1 2563218 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=135357;RCV=RCV000122172;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374 1 3069246 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=228319;RCV=RCV000214266;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_provided;GOLD_STARS=0;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3186110 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227038;RCV=RCV000222776;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3186111 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229168;RCV=RCV000219133;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3186187 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227857;RCV=RCV000215109|RCV000228623;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3186229 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=241420;RCV=RCV000234327;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3186110 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227038;RCV=RCV000222776;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 3186111 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229168;RCV=RCV000219133;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 3186187 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227857;RCV=RCV000215109|RCV000228623;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3186229 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=241420;RCV=RCV000234327|RCV000430883;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374 1 3186288 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227864;RCV=RCV000220218|RCV000228859;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3186480 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227039;RCV=RCV000216479;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3186480 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227039;RCV=RCV000216479|RCV000464355;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3244128 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227040;RCV=RCV000219941;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3385157 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227041;RCV=RCV000213616;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3385157 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227041;RCV=RCV000213616;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 3385266 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=235271;RCV=RCV000224254;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 -1 3396544 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227042;RCV=RCV000217911;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3396544 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227042;RCV=RCV000217911|RCV000470033;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3396574 . A C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227872;RCV=RCV000217723;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3402828 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227874;RCV=RCV000214448;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3402897 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227043;RCV=RCV000220870|RCV000228241;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3402897 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227043;RCV=RCV000220870|RCV000228241;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3402936 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227875;RCV=RCV000217462;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3402981 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229169;RCV=RCV000223395;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3402986 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=60728;RCV=RCV000054522;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Dilated_cardiomyopathy_1LL|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373 -1 3405533 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=221025;RCV=RCV000204192|RCV000220538;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Invitae|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified|Not_specified;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374 +1 3405533 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=221025;RCV=RCV000204192|RCV000220538;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Invitae|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified|Not_specified;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374 1 3405543 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229155;RCV=RCV000213682;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3405555 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=229156;RCV=RCV000216650;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3405575 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227022;RCV=RCV000214207;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3405578 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227858;RCV=RCV000219433;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3405596 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=227859;RCV=RCV000222431;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3405575 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227022;RCV=RCV000214207|RCV000475757;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3405578 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227858;RCV=RCV000219433;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 3405596 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=227859;RCV=RCV000222431|RCV000463379;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3411374 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=229157;RCV=RCV000221026;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3411409 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227023;RCV=RCV000217174|RCV000230341;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3411409 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227023;RCV=RCV000217174|RCV000230341;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3411522 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=373356;RCV=RCV000414577;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 3411560 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227860;RCV=RCV000214839;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3411623 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227024;RCV=RCV000221460;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3411715 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227025;RCV=RCV000214308;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3411623 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227024;RCV=RCV000221460|RCV000474106;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3411715 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227025;RCV=RCV000214308|RCV000461808;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3411734 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=241421;RCV=RCV000228195;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3411765 . A AC . . MEASURESET_TYPE=Variant;MEASURESET_ID=280120;RCV=RCV000365162;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809 1 3411771 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229158;RCV=RCV000213365;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3411775 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227861;RCV=RCV000219165;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3411794 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227026;RCV=RCV000217271;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3411775 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227861;RCV=RCV000219165|RCV000470998;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3411794 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227026;RCV=RCV000217271;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 3411829 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=241422;RCV=RCV000232157;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3411881 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227862;RCV=RCV000223463;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3411881 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227862;RCV=RCV000223463|RCV000459912;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3411916 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=241423;RCV=RCV000225997;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3412074 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=229159;RCV=RCV000217585;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3412095 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227027;RCV=RCV000221571;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3412095 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227027;RCV=RCV000221571;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 3412174 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227863;RCV=RCV000215898;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3412257 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=229160;RCV=RCV000221873;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3412286 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=229161;RCV=RCV000214303;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3412288 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227028;RCV=RCV000215257;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3412288 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227028;RCV=RCV000215257|RCV000470201;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3412297 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=220733;RCV=RCV000204005;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3412301 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=60724;RCV=RCV000054518;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Left_ventricular_noncompaction_8|LEFT_VENTRICULAR_NONCOMPACTION_8;ALL_PMIDS=23768516;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3412327 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=241424;RCV=RCV000232265;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3412487 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229162;RCV=RCV000217269|RCV000226109;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3412487 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229162;RCV=RCV000217269|RCV000226109;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=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3412631 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=229163;RCV=RCV000221476;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3412644 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=60726;RCV=RCV000054520;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Left_ventricular_noncompaction_8|LEFT_VENTRICULAR_NONCOMPACTION_8;ALL_PMIDS=23768516;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3412646 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=241425;RCV=RCV000230075;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3412649 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=241426;RCV=RCV000232966;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3412665 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227865;RCV=RCV000223185|RCV000226799;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266..26350513;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3412699 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227029;RCV=RCV000219694;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3412703 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227030;RCV=RCV000221333;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3412773 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=229164;RCV=RCV000215161;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=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 -1 3414590 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227866;RCV=RCV000216924;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3412649 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=241426;RCV=RCV000232966|RCV000418666;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374 +1 3412665 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227865;RCV=RCV000223185|RCV000226799;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266..26350513;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3412699 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227029;RCV=RCV000219694;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 3412703 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227030;RCV=RCV000221333|RCV000469328;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3412773 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=229164;RCV=RCV000215161|RCV000468206;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3414590 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227866;RCV=RCV000216924|RCV000469880;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=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3414616 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=60729;RCV=RCV000054523;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;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Dilated_cardiomyopathy_1LL|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373 -1 3414629 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227031;RCV=RCV000215017;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3414629 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227031;RCV=RCV000215017|RCV000475588;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3417877 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=241427;RCV=RCV000229654;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3417883 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=218791;RCV=RCV000203205;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|Not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374 1 3417916 . A C . . MEASURESET_TYPE=Variant;MEASURESET_ID=373755;RCV=RCV000413206;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 3417922 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229165;RCV=RCV000219521;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3417929 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227032;RCV=RCV000219295|RCV000233639;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3417929 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227032;RCV=RCV000219295|RCV000233639;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3417941 . A ACC . . MEASURESET_TYPE=Variant;MEASURESET_ID=229166;RCV=RCV000221072;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3417951 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=373801;RCV=RCV000414615;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3417951 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=373801;RCV=RCV000414615|RCV000474992;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=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3417992 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227867;RCV=RCV000219939;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3425566 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=229167;RCV=RCV000214743;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3425594 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=373270;RCV=RCV000413640;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3425743 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=241428;RCV=RCV000226908;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3425760 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227033;RCV=RCV000223403;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3425762 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227868;RCV=RCV000213653;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3426047 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227869;RCV=RCV000217996;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3425743 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=241428;RCV=RCV000226908|RCV000444388;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374 +1 3425760 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227033;RCV=RCV000223403|RCV000460045;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3425762 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227868;RCV=RCV000213653;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 +1 3426047 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227869;RCV=RCV000217996|RCV000465584;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3426070 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=241429;RCV=RCV000230873;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3426071 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227034;RCV=RCV000215790|RCV000232612;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3426071 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227034;RCV=RCV000215790|RCV000232612;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3426076 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227870;RCV=RCV000220998;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 3426210 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=241430;RCV=RCV000227583;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;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3426240 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227035;RCV=RCV000218772;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3426240 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227035;RCV=RCV000218772;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 3430888 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=60727;RCV=RCV000054521|RCV000204421|RCV000223010;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=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=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;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373|MedGen:C3809288|Orphanet:154|Orphanet:54260|MedGen:CN169374 1 3430953 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227871;RCV=RCV000213381;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 3430956 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227036;RCV=RCV000216881|RCV000230406;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 +1 3430956 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227036;RCV=RCV000216881|RCV000230406;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 1 3432065 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=241431;RCV=RCV000234393;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260 -1 3432131 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227037;RCV=RCV000219826;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 3432131 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227037;RCV=RCV000219826;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;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=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 1 3816372 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=221277;RCV=RCV000207283;ALLELE_ID=222988;SYMBOL=CEP104;HGVS_C=NM_014704.3:c.2572-2A>G;MOLECULAR_CONSEQUENCE=NM_014704.3:c.2572-2A>G:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Joubert_syndrome_25|JOUBERT_SYNDROME_25;ALL_PMIDS=26477546;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN235076|OMIM:616781|Orphanet:475 1 3835079 . T TA . . MEASURESET_TYPE=Variant;MEASURESET_ID=221275;RCV=RCV000207071;ALLELE_ID=222986;SYMBOL=CEP104;HGVS_C=NM_014704.3:c.1328_1329insT;HGVS_P=NP_055519.1:p.Tyr444Leufs;MOLECULAR_CONSEQUENCE=NM_014704.3:c.1328_1329insT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Joubert_syndrome_25|JOUBERT_SYNDROME_25;ALL_PMIDS=26477546;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN235076|OMIM:616781|Orphanet:475 1 3839606 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=221274;RCV=RCV000207253;ALLELE_ID=222985;SYMBOL=CEP104;HGVS_C=NM_014704.3:c.735+2T>C;MOLECULAR_CONSEQUENCE=NM_014704.3:c.735+2T>C:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Joubert_syndrome_25|JOUBERT_SYNDROME_25;ALL_PMIDS=26477546..7;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline;XREFS=MedGen:CN235076|OMIM:616781|Orphanet:475 @@ -508,8 +506,8 @@ 1 5862951 . A C . . MEASURESET_TYPE=Variant;MEASURESET_ID=297781;RCV=RCV000273736|RCV000332696;ALLELE_ID=283011;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.*314T>G;MOLECULAR_CONSEQUENCE=NM_015102.4:c.*314T>G:3_prime_UTR_variant|NR_111987.1:n.5410T>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 5863137 . T G . . MEASURESET_TYPE=Variant;MEASURESET_ID=297782;RCV=RCV000260041|RCV000389549;ALLELE_ID=281526;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.*128A>C;MOLECULAR_CONSEQUENCE=NM_015102.4:c.*128A>C:3_prime_UTR_variant|NR_111987.1:n.5224A>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 5863239 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=297783;RCV=RCV000317634|RCV000374332;ALLELE_ID=280972;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.*26C>T;MOLECULAR_CONSEQUENCE=NM_015102.4:c.*26C>T:3_prime_UTR_variant|NR_111987.1:n.5122C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 -1 5863309 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=297784;RCV=RCV000282410|RCV000339705;ALLELE_ID=282746;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.4237G>A;HGVS_P=NP_055917.1:p.Asp1413Asn;MOLECULAR_CONSEQUENCE=NM_015102.4:c.4237G>A:missense_variant|NR_111987.1:n.5052G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 -1 5863367 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=95686;RCV=RCV000081719;ALLELE_ID=101583;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.4179T>A;HGVS_P=NP_055917.1:p.Phe1393Leu;MOLECULAR_CONSEQUENCE=NM_015102.4:c.4179T>A:missense_variant|NR_111987.1:n.4994T>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;XREFS=MedGen:CN169374 +1 5863309 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=297784;RCV=RCV000282410|RCV000339705;ALLELE_ID=282746;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.4237G>A;HGVS_P=NP_055917.1:p.Asp1413Asn;MOLECULAR_CONSEQUENCE=NM_015102.4:c.4237G>A:missense_variant|NR_111987.1:n.5052G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|Invitae;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 +1 5863367 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=95686;RCV=RCV000081719|RCV000476917;ALLELE_ID=101583;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.4179T>A;HGVS_P=NP_055917.1:p.Phe1393Leu;MOLECULAR_CONSEQUENCE=NM_015102.4:c.4179T>A:missense_variant|NR_111987.1:n.4994T>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Nephronophthisis;ALL_PMIDS=23757202|0..2..27004616..27336129..95686;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK368475|GeneTests:72016|MedGen:C0687120|OMIM:PS256100|SNOMED_CT:204958008 1 5863401 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=196631;RCV=RCV000177474;ALLELE_ID=193792;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.4145G>A;HGVS_P=NP_055917.1:p.Gly1382Glu;MOLECULAR_CONSEQUENCE=NM_015102.4:c.4145G>A:missense_variant|NR_111987.1:n.4960G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5863403 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=288025;RCV=RCV000266655;ALLELE_ID=272262;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.4143C>T;HGVS_P=NP_055917.1:p.Val1381_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.4143C>T:synonymous_variant|NR_111987.1:n.4958C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5863416 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=260560;RCV=RCV000246011|RCV000286079|RCV000377961;ALLELE_ID=249993;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.4141-11C>T;MOLECULAR_CONSEQUENCE=NM_015102.4:c.4141-11C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=25741868|27336129;ORIGIN=germline;XREFS=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 @@ -523,7 +521,7 @@ 1 5864423 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=196138;RCV=RCV000176884;ALLELE_ID=193299;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3911A>G;HGVS_P=NP_055917.1:p.His1304Arg;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3911A>G:missense_variant|NR_111987.1:n.4726A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5864458 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=95685;RCV=RCV000081718|RCV000205951|RCV000261468;ALLELE_ID=101582;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3876C>T;HGVS_P=NP_055917.1:p.Gly1292_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3876C>T:synonymous_variant|NR_111987.1:n.4691C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics|Invitae|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=23757202..25741868|27336129;ORIGIN=germline;XREFS=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 1 5864470 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=297786;RCV=RCV000264957|RCV000375871;ALLELE_ID=280973;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3864C>T;HGVS_P=NP_055917.1:p.Asp1288_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3864C>T:synonymous_variant|NR_111987.1:n.4679C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 -1 5864483 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=286996;RCV=RCV000395711;ALLELE_ID=271233;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3851G>A;HGVS_P=NP_055917.1:p.Arg1284His;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3851G>A:missense_variant|NR_111987.1:n.4666G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 +1 5864483 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=286996;RCV=RCV000395711|RCV000477226;ALLELE_ID=271233;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3851G>A;HGVS_P=NP_055917.1:p.Arg1284His;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3851G>A:missense_variant|NR_111987.1:n.4666G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK368475|GeneTests:72016|MedGen:C0687120|OMIM:PS256100|SNOMED_CT:204958008 1 5864491 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=167370;RCV=RCV000153582;ALLELE_ID=177882;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3843G>T;HGVS_P=NP_055917.1:p.Leu1281_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3843G>T:synonymous_variant|NR_111987.1:n.4658G>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5864497 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=167371;RCV=RCV000153583|RCV000199892;ALLELE_ID=177883;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3837C>T;HGVS_P=NP_055917.1:p.Phe1279_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3837C>T:synonymous_variant|NR_111987.1:n.4652C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK368475|GeneTests:72016|MedGen:C0687120|OMIM:PS256100|SNOMED_CT:204958008 1 5865141 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=287096;RCV=RCV000278432|RCV000322356|RCV000379124;ALLELE_ID=271333;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3777G>A;HGVS_P=NP_055917.1:p.Arg1259_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3777G>A:synonymous_variant|NR_111987.1:n.4592G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 @@ -549,9 +547,9 @@ 1 5867758 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=195828;RCV=RCV000176491;ALLELE_ID=192989;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3454C>T;HGVS_P=NP_055917.1:p.Pro1152Ser;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3454C>T:missense_variant|NR_111987.1:n.4269C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5867767 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=287251;RCV=RCV000353388;ALLELE_ID=271488;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3445C>T;HGVS_P=NP_055917.1:p.Arg1149Cys;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3445C>T:missense_variant|NR_111987.1:n.4260C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5867827 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=289977;RCV=RCV000281891;ALLELE_ID=274214;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3385G>A;HGVS_P=NP_055917.1:p.Val1129Met;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3385G>A:missense_variant|NR_111987.1:n.4200G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 -1 5867883 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=95682;RCV=RCV000081715|RCV000292444|RCV000331197;ALLELE_ID=101579;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3329C>T;HGVS_P=NP_055917.1:p.Ala1110Val;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3329C>T:missense_variant|NR_111987.1:n.4144C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=23757202|27336129;ORIGIN=germline;XREFS=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 +1 5867883 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=95682;RCV=RCV000081715|RCV000292444|RCV000331197;ALLELE_ID=101579;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3329C>T;HGVS_P=NP_055917.1:p.Ala1110Val;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3329C>T:missense_variant|NR_111987.1:n.4144C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx|Illumina_Clinical_Services_Laboratory..Illumina|Invitae;ALL_TRAITS=not_specified|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=23757202|27336129;ORIGIN=germline;XREFS=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 1 5873220 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=260555;RCV=RCV000246810;ALLELE_ID=249998;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3315+32G>A;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3315+32G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 -1 5873324 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=95681;RCV=RCV000081714|RCV000296377|RCV000388001;ALLELE_ID=101578;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3243G>C;HGVS_P=NP_055917.1:p.Gly1081_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3243G>C:synonymous_variant|NR_111987.1:n.4058G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=23757202..25741868|27336129;ORIGIN=germline;XREFS=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 +1 5873324 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=95681;RCV=RCV000081714|RCV000296377|RCV000388001;ALLELE_ID=101578;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3243G>C;HGVS_P=NP_055917.1:p.Gly1081_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3243G>C:synonymous_variant|NR_111987.1:n.4058G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=23757202..25741868|27336129;ORIGIN=germline;XREFS=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 1 5874430 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=260554;RCV=RCV000252694;ALLELE_ID=249999;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3231+41T>C;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3231+41T>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 5874440 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=260553;RCV=RCV000247753;ALLELE_ID=250000;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3231+31A>G;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3231+31A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374 1 5874466 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=297795;RCV=RCV000335051|RCV000398811;ALLELE_ID=283022;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.3231+5G>A;MOLECULAR_CONSEQUENCE=NM_015102.4:c.3231+5G>A:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 @@ -592,7 +590,7 @@ 1 5877103 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=284756;RCV=RCV000398485;ALLELE_ID=268993;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2807C>T;HGVS_P=NP_055917.1:p.Thr936Met;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2807C>T:missense_variant|NR_111987.1:n.3359C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5877103 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=167376;RCV=RCV000153588;ALLELE_ID=177064;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2807C>A;HGVS_P=NP_055917.1:p.Thr936Lys;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2807C>A:missense_variant|NR_111987.1:n.3359C>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5877108 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=95679;RCV=RCV000081712|RCV000288432|RCV000343148;ALLELE_ID=101576;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2802C>T;HGVS_P=NP_055917.1:p.Arg934_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2802C>T:synonymous_variant|NR_111987.1:n.3354C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=23757202..25741868|27336129;ORIGIN=germline;XREFS=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 -1 5877186 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=95678;RCV=RCV000081711|RCV000303360|RCV000399353;ALLELE_ID=101575;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2724G>A;HGVS_P=NP_055917.1:p.Ser908_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2724G>A:synonymous_variant|NR_111987.1:n.3276G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=23757202..25741868|27336129;ORIGIN=germline;XREFS=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 +1 5877186 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=95678;RCV=RCV000081711|RCV000303360|RCV000399353;ALLELE_ID=101575;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2724G>A;HGVS_P=NP_055917.1:p.Ser908_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2724G>A:synonymous_variant|NR_111987.1:n.3276G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|PreventionGenetics..PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=23757202..25741868|27336129;ORIGIN=germline;XREFS=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 1 5877200 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=297801;RCV=RCV000358103|RCV000407118;ALLELE_ID=282760;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2710G>A;HGVS_P=NP_055917.1:p.Val904Ile;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2710G>A:missense_variant|NR_111987.1:n.3262G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 5877209 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=297802;RCV=RCV000300044|RCV000354793;ALLELE_ID=281556;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2701C>T;HGVS_P=NP_055917.1:p.Pro901Ser;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2701C>T:missense_variant|NR_111987.1:n.3253C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 5877223 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=286862;RCV=RCV000301378;ALLELE_ID=271099;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2687G>A;HGVS_P=NP_055917.1:p.Arg896Gln;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2687G>A:missense_variant|NR_111987.1:n.3239G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 @@ -626,7 +624,7 @@ 1 5890926 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=297809;RCV=RCV000312745|RCV000367388;ALLELE_ID=281565;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2246T>C;HGVS_P=NP_055917.1:p.Ile749Thr;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2246T>C:missense_variant|NR_111987.1:n.2511T>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 5890942 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=297810;RCV=RCV000272818|RCV000309369;ALLELE_ID=280978;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2230G>A;HGVS_P=NP_055917.1:p.Val744Met;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2230G>A:missense_variant|NR_111987.1:n.2495G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 5890953 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=240967;RCV=RCV000233672|RCV000248287|RCV000364078;ALLELE_ID=238340;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2219G>A;HGVS_P=NP_055917.1:p.Arg740His;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2219G>A:missense_variant|NR_111987.1:n.2484G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Invitae|Illumina_Clinical_Services_Laboratory..Illumina|PreventionGenetics..PreventionGenetics;ALL_TRAITS=Nephronophthisis|not_specified|NOT_SPECIFIED|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=27336129|25741868;ORIGIN=germline;XREFS=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 -1 5890969 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=194765;RCV=RCV000175206;ALLELE_ID=191928;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2203C>T;HGVS_P=NP_055917.1:p.Arg735Trp;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2203C>T:missense_variant|NR_111987.1:n.2468C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=15776426;ORIGIN=germline;XREFS=MedGen:CN169374 +1 5890969 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=194765;RCV=RCV000175206;ALLELE_ID=191928;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2203C>T;HGVS_P=NP_055917.1:p.Arg735Trp;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2203C>T:missense_variant|NR_111987.1:n.2468C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ALL_PMIDS=15776426;ORIGIN=germline;XREFS=MedGen:CN169374 1 5890974 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=156399;RCV=RCV000144481;ALLELE_ID=166179;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2198G>A;HGVS_P=NP_055917.1:p.Gly733Asp;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2198G>A:missense_variant|NR_111987.1:n.2463G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=Molecular_Diagnostics_Laboratory..Seoul_National_University_Hospital;ALL_TRAITS=Leber_congenital_amaurosis|Leber_congenital_amaurosis;ALL_PMIDS=20301475;ORIGIN=unknown;XREFS=GeneReviews:NBK1298|Genetic_Alliance:Leber+congenital+amaurosis/4130|Genetics_Home_Reference:leber-congenital-amaurosis|MedGen:C0339527|OMIM:204000|OMIM:PS204000|Office_of_Rare_Diseases:634|Orphanet:ORPHA65|SNOMED_CT:193413001 1 5904618 . A T . . MEASURESET_TYPE=Variant;MEASURESET_ID=290903;RCV=RCV000349584;ALLELE_ID=275140;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2142T>A;HGVS_P=NP_055917.1:p.Ala714_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2142T>A:synonymous_variant|NR_111987.1:n.2407T>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5904645 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=297811;RCV=RCV000324605|RCV000379250;ALLELE_ID=283026;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.2115T>C;HGVS_P=NP_055917.1:p.Pro705_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.2115T>C:synonymous_variant|NR_111987.1:n.2380T>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 @@ -652,7 +650,7 @@ 1 5905763 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=194411;RCV=RCV000174775|RCV000261125|RCV000316449;ALLELE_ID=191574;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.1632C>T;HGVS_P=NP_055917.1:p.Ala544_eq_;MOLECULAR_CONSEQUENCE=NM_015102.4:c.1632C>T:synonymous_variant|NR_111987.1:n.1897C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 5905764 . G C . . MEASURESET_TYPE=Variant;MEASURESET_ID=260545;RCV=RCV000252129|RCV000293641|RCV000389624;ALLELE_ID=250006;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.1631C>G;HGVS_P=NP_055917.1:p.Ala544Gly;MOLECULAR_CONSEQUENCE=NM_015102.4:c.1631C>G:missense_variant|NR_111987.1:n.1896C>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=PreventionGenetics..PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=25741868|27336129;ORIGIN=germline;XREFS=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 1 5905773 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=282763;RCV=RCV000329954|RCV000384528|RCV000403180;ALLELE_ID=267000;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.1622C>T;HGVS_P=NP_055917.1:p.Pro541Leu;MOLECULAR_CONSEQUENCE=NM_015102.4:c.1622C>T:missense_variant|NR_111987.1:n.1887C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign|Uncertain_significance;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis|not_specified;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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|MedGen:CN169374 -1 5907106 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=95672;RCV=RCV000081705|RCV000289949|RCV000344879;ALLELE_ID=101569;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.1611+9C>T;MOLECULAR_CONSEQUENCE=NM_015102.4:c.1611+9C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=23757202|27336129;ORIGIN=germline;XREFS=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 +1 5907106 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=95672;RCV=RCV000081705|RCV000289949|RCV000344879;ALLELE_ID=101569;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.1611+9C>T;MOLECULAR_CONSEQUENCE=NM_015102.4:c.1611+9C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;GOLD_STARS=2;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Illumina_Clinical_Services_Laboratory..Illumina|Invitae;ALL_TRAITS=not_specified|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=23757202|27336129;ORIGIN=germline;XREFS=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 1 5907184 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=219984;RCV=RCV000206457;ALLELE_ID=221111;SYMBOL=NPHP4;HGVS_C=NM_001291593.1:c.76-1404G>A;HGVS_P=NP_055917.1:p.Pro514_eq_;MOLECULAR_CONSEQUENCE=NM_001291593.1:c.76-1404G>A:intron_variant|NM_015102.4:c.1542G>A:synonymous_variant|NR_111987.1:n.1810G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=GeneReviews:NBK368475|GeneTests:72016|MedGen:C0687120|OMIM:PS256100|SNOMED_CT:204958008 1 5907193 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=194253;RCV=RCV000174579;ALLELE_ID=191416;SYMBOL=NPHP4;HGVS_C=NM_001291593.1:c.76-1413G>A;HGVS_P=NP_055917.1:p.Pro511_eq_;MOLECULAR_CONSEQUENCE=NM_001291593.1:c.76-1413G>A:intron_variant|NM_015102.4:c.1533G>A:synonymous_variant|NR_111987.1:n.1801G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374 1 5907199 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=297818;RCV=RCV000286277|RCV000400158;ALLELE_ID=281571;SYMBOL=NPHP4;HGVS_C=NM_001291593.1:c.76-1419C>T;HGVS_P=NP_055917.1:p.Ala509_eq_;MOLECULAR_CONSEQUENCE=NM_001291593.1:c.76-1419C>T:intron_variant|NM_015102.4:c.1527C>T:synonymous_variant|NR_111987.1:n.1795C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 @@ -718,7 +716,7 @@ 1 5992441 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=297839;RCV=RCV000287021|RCV000400674;ALLELE_ID=283087;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.-236C>T;MOLECULAR_CONSEQUENCE=NM_015102.4:c.-236C>T:5_prime_UTR_variant|NR_111987.1:n.33C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 5992442 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=297840;RCV=RCV000339732|RCV000399861;ALLELE_ID=283088;SYMBOL=NPHP4;HGVS_C=NM_015102.4:c.-237G>C;MOLECULAR_CONSEQUENCE=NM_015102.4:c.-237G>C:5_prime_UTR_variant|NR_111987.1:n.32G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|Senior-Loken_Syndrome;ALL_PMIDS=27336129;ORIGIN=germline;XREFS=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 1 6098509 . A G . . MEASURESET_TYPE=Variant;MEASURESET_ID=218544;RCV=RCV000203075;ALLELE_ID=215211;SYMBOL=KCNAB2;HGVS_C=NM_001199861.1:c.1039A>G;HGVS_P=NP_001186790.1:p.Ile347Val;MOLECULAR_CONSEQUENCE=NM_001199861.1:c.1039A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374 -1 6254689 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=208391;RCV=RCV000202336;ALLELE_ID=204612;SYMBOL=GPR153;HGVS_C=NM_207370.2:c.217C>T;HGVS_P=NP_997253.2:p.Arg73Cys;MOLECULAR_CONSEQUENCE=NM_207370.2:c.217C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Dr._Guy_Rouleau's_laboratory..McGill_University;ALL_TRAITS=Childhood-Onset_Schizophrenia|Childhood_Onset_Schizophrenia;ALL_PMIDS=26508570;ORIGIN=de_novo;XREFS=MeSH:D012561|MedGen:C0036346|Office_of_Rare_Diseases:4766 +1 6254689 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=208391;RCV=RCV000202336;ALLELE_ID=204612;SYMBOL=GPR153;HGVS_C=NM_207370.3:c.217C>T;HGVS_P=NP_997253.2:p.Arg73Cys;MOLECULAR_CONSEQUENCE=NM_207370.3:c.217C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Dr._Guy_Rouleau's_laboratory..McGill_University;ALL_TRAITS=Childhood-Onset_Schizophrenia|Childhood_Onset_Schizophrenia;ALL_PMIDS=26508570;ORIGIN=de_novo;XREFS=MeSH:D012561|MedGen:C0036346|Office_of_Rare_Diseases:4766 1 6428268 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=228670;RCV=RCV000217424;ALLELE_ID=228498;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.337C>T;HGVS_P=NP_113663.2:p.Arg113Cys;MOLECULAR_CONSEQUENCE=NM_031475.2:c.337C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6428313 . G T . . MEASURESET_TYPE=Variant;MEASURESET_ID=180073;RCV=RCV000156876;ALLELE_ID=172590;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.382G>T;HGVS_P=NP_113663.2:p.Gly128Cys;MOLECULAR_CONSEQUENCE=NM_031475.2:c.382G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6428370 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=179234;RCV=RCV000156021;ALLELE_ID=172452;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.439G>A;HGVS_P=NP_113663.2:p.Ala147Thr;MOLECULAR_CONSEQUENCE=NM_031475.2:c.439G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 @@ -726,12 +724,12 @@ 1 6441006 . C A . . MEASURESET_TYPE=Variant;MEASURESET_ID=228671;RCV=RCV000221051;ALLELE_ID=228500;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.931C>A;HGVS_P=NP_113663.2:p.Leu311Met;MOLECULAR_CONSEQUENCE=NM_031475.2:c.931C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6444506 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=163411;RCV=RCV000150655;ALLELE_ID=172591;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1016G>A;HGVS_P=NP_113663.2:p.Arg339Gln;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1016G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6444515 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=228668;RCV=RCV000220787;ALLELE_ID=228501;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1025C>T;HGVS_P=NP_113663.2:p.Ser342Phe;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1025C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 6444538 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=163412;RCV=RCV000150656;ALLELE_ID=172453;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1048C>T;HGVS_P=NP_113663.2:p.Pro350Ser;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1048C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 6444538 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=163412;RCV=RCV000150656|RCV000477776;ALLELE_ID=172453;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1048C>T;HGVS_P=NP_113663.2:p.Pro350Ser;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1048C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Division_of_Human_Genetics..Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|Not_specified|Deafness..autosomal_recessive_36..with_or_without_vestibular_involvement;ALL_PMIDS=24033266|20301607;AGE_OF_ONSET=Infancy;ORIGIN=germline|paternal;XREFS=MedGen:CN169374|GeneReviews:NBK1434|Genetic_Alliance:Deafness%2C+autosomal+recessive+36%2C+with+or+without+vestibular+involvement/8173|MedGen:C1837007|OMIM:606351.0001|OMIM:606351.0002|OMIM:609006|Orphanet:90636 1 6444539 . C G . . MEASURESET_TYPE=Variant;MEASURESET_ID=227356;RCV=RCV000218932;ALLELE_ID=228502;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1049C>G;HGVS_P=NP_113663.2:p.Pro350Arg;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1049C>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6444559 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=178607;RCV=RCV000155360;ALLELE_ID=172592;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1069C>T;HGVS_P=NP_113663.2:p.Pro357Ser;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1069C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6444570 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227357;RCV=RCV000223461;ALLELE_ID=228503;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1080G>A;HGVS_P=NP_113663.2:p.Thr360_eq_;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1080G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6444584 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=179446;RCV=RCV000156235;ALLELE_ID=172454;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1094C>T;HGVS_P=NP_113663.2:p.Pro365Leu;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1094C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 6444594 . T G . . MEASURESET_TYPE=Variant;MEASURESET_ID=163413;RCV=RCV000150657;ALLELE_ID=172593;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1104T>G;HGVS_P=NP_113663.2:p.Phe368Leu;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1104T>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 +1 6444594 . T G . . MEASURESET_TYPE=Variant;MEASURESET_ID=163413;RCV=RCV000150657|RCV000430501;ALLELE_ID=172593;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1104T>G;HGVS_P=NP_113663.2:p.Phe368Leu;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1104T>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|Not_specified|not_provided;ALL_PMIDS=24033266|25741868;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809 1 6444690 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=227358;RCV=RCV000215895;ALLELE_ID=228504;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1192+8T>C;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1192+8T>C:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6451634 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227359;RCV=RCV000218825;ALLELE_ID=228505;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1947G>A;HGVS_P=NP_113663.2:p.Thr649_eq_;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1947G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6451637 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=226633;RCV=RCV000218711;ALLELE_ID=228506;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.1950C>T;HGVS_P=NP_113663.2:p.Gly650_eq_;MOLECULAR_CONSEQUENCE=NM_031475.2:c.1950C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 @@ -742,9 +740,11 @@ 1 6451926 . A C . . MEASURESET_TYPE=Variant;MEASURESET_ID=4420;RCV=RCV000004670;ALLELE_ID=19459;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.2155A>C;HGVS_P=NP_113663.2:p.Ser719Arg;MOLECULAR_CONSEQUENCE=NM_031475.2:c.2155A>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..without_vestibular_involvement..autosomal_dominant|DEAFNESS..AUTOSOMAL_DOMINANT..WITHOUT_VESTIBULAR_INVOLVEMENT;ALL_PMIDS=15930085;ORIGIN=germline;XREFS=MedGen:CN068820 1 6452001 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=4421;RCV=RCV000004671;ALLELE_ID=19460;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.2230G>A;HGVS_P=NP_113663.2:p.Asp744Asn;MOLECULAR_CONSEQUENCE=NM_031475.2:c.2230G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..without_vestibular_involvement..autosomal_dominant|DEAFNESS..AUTOSOMAL_DOMINANT..WITHOUT_VESTIBULAR_INVOLVEMENT;ALL_PMIDS=15930085;ORIGIN=germline;XREFS=MedGen:CN068820 1 6452024 . C T . . MEASURESET_TYPE=Variant;MEASURESET_ID=227360;RCV=RCV000223058;ALLELE_ID=228510;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.2253C>T;HGVS_P=NP_113663.2:p.Pro751_eq_;MOLECULAR_CONSEQUENCE=NM_031475.2:c.2253C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 -1 6452028 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=225044;RCV=RCV000210616;ALLELE_ID=226886;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.2257T>C;HGVS_P=NP_113663.2:p.Trp753Arg;MOLECULAR_CONSEQUENCE=NM_031475.2:c.2257T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Ambry_Genetics;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Audiologic/Otolaryngologic_(child_onset)|Musculoskeletal/Structural_(child_onset)|Neurologic_(child_onset);ALL_PMIDS=22947299..23037933..23169492..23619275..23652378..23881473..24022298..24121147..24394680..25356970..25560141..25626707..25730230;ORIGIN=germline;XREFS=MeSH:D030342|MedGen:C0950123 +1 6452028 . T C . . MEASURESET_TYPE=Variant;MEASURESET_ID=225044;RCV=RCV000210616;ALLELE_ID=226886;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.2257T>C;HGVS_P=NP_113663.2:p.Trp753Arg;MOLECULAR_CONSEQUENCE=NM_031475.2:c.2257T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Ambry_Genetics..;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Audiologic/Otolaryngologic_(child_onset)|Musculoskeletal/Structural_(child_onset)|Neurologic_(child_onset);ALL_PMIDS=22947299..23037933..23169492..23619275..23652378..23881473..24022298..24121147..24394680..25356970..25560141..25626707..25730230;ORIGIN=germline;XREFS=MeSH:D030342|MedGen:C0950123 1 6452092 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=4422;RCV=RCV000004672;ALLELE_ID=19461;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.2321G>A;HGVS_P=NP_113663.2:p.Arg774Gln;MOLECULAR_CONSEQUENCE=NM_031475.2:c.2321G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;PATHOGENIC=1;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=no_assertion_criteria_provided;GOLD_STARS=0;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..without_vestibular_involvement..autosomal_dominant|DEAFNESS..AUTOSOMAL_DOMINANT..WITHOUT_VESTIBULAR_INVOLVEMENT;ALL_PMIDS=15930085;ORIGIN=germline;XREFS=MedGen:CN068820 1 6457275 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227361;RCV=RCV000216795;ALLELE_ID=228511;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.2405+12G>A;MOLECULAR_CONSEQUENCE=NM_031475.2:c.2405+12G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6460085 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=163414;RCV=RCV000150658;ALLELE_ID=172594;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.2504G>A;HGVS_P=NP_113663.2:p.Ser835Asn;MOLECULAR_CONSEQUENCE=NM_031475.2:c.2504G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;PATHOGENIC=0;BENIGN=0;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6460152 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=227355;RCV=RCV000214566;ALLELE_ID=228512;SYMBOL=ESPN;HGVS_C=NM_031475.2:c.*6G>A;MOLECULAR_CONSEQUENCE=NM_031475.2:c.*6G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Likely_benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374 1 6466123 . G A . . MEASURESET_TYPE=Variant;MEASURESET_ID=297904;RCV=RCV000399468;ALLELE_ID=281043;SYMBOL=TNFRSF25;HGVS_C=NM_020631.4:c.*1440C>T;MOLECULAR_CONSEQUENCE=NM_020631.4:c.*1440C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Distal_spinal_muscular_atrophy|Distal_Spinal_Muscular_Atrophy;ORIGIN=germline;XREFS=MedGen:C0393541|SNOMED_CT:230247001 +1 6466142 . CCGTGCTCT C . . MEASURESET_TYPE=Variant;MEASURESET_ID=297905;RCV=RCV000302421;ALLELE_ID=281645;SYMBOL=TNFRSF25;HGVS_C=NM_020631.4:c.*1413_*1420delAGAGCACG;MOLECULAR_CONSEQUENCE=NM_020631.4:c.*1413_*1420delAGAGCACG:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Distal_spinal_muscular_atrophy|Distal_Spinal_Muscular_Atrophy;ORIGIN=germline;XREFS=MedGen:C0393541|SNOMED_CT:230247001 +1 6466180 . GCGCC G . . MEASURESET_TYPE=Variant;MEASURESET_ID=297906;RCV=RCV000361894;ALLELE_ID=281648;SYMBOL=TNFRSF25;HGVS_C=NM_020631.4:c.*1379_*1382delGGCG;MOLECULAR_CONSEQUENCE=NM_020631.4:c.*1379_*1382delGGCG:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign;PATHOGENIC=0;BENIGN=1;CONFLICTED=0;REVIEW_STATUS=criteria_provided..single_submitter;GOLD_STARS=1;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Distal_spinal_muscular_atrophy|Distal_Spinal_Muscular_Atrophy;ORIGIN=germline;XREFS=MedGen:C0393541|SNOMED_CT:230247001 diff --git a/output/b38/single/clinvar_alleles_stats.single.b38.txt b/output/b38/single/clinvar_alleles_stats.single.b38.txt index 24fcc5c..242024c 100644 --- a/output/b38/single/clinvar_alleles_stats.single.b38.txt +++ b/output/b38/single/clinvar_alleles_stats.single.b38.txt @@ -1,846 +1,42864 @@ -Columns: 1: chrom, 2: pos, 3: ref, 4: alt, 5: measureset_type, 6: measureset_id, 7: rcv, 8: allele_id, 9: symbol, 10: hgvs_c, 11: hgvs_p, 12: molecular_consequence, 13: clinical_significance, 14: pathogenic, 15: benign, 16: conflicted, 17: review_status, 18: gold_stars, 19: all_submitters, 20: all_traits, 21: all_pmids, 22: inheritance_modes, 23: age_of_onset, 24: prevalence, 25: disease_mechanism, 26: origin, 27: xrefs +Columns: 1: chrom, 2: pos, 3: ref, 4: alt, 5: measureset_type, 6: measureset_id, 7: rcv, 8: allele_id, 9: symbol, 10: hgvs_c, 11: hgvs_p, 12: molecular_consequence, 13: clinical_significance, 14: pathogenic, 15: benign, 16: conflicted, 17: review_status, 18: last_evaluated, 19: gold_stars, 20: all_submitters, 21: all_traits, 22: all_pmids, 23: inheritance_modes, 24: age_of_onset, 25: prevalence, 26: disease_mechanism, 27: origin, 28: xrefs ================ -Total Rows: 243506 +Total Rows: 242464 ================ column 5: measureset_type - 243506 Variant +242464 Variant ================ column 13: clinical_significance - 111792 Uncertain significance - 49975 Likely benign - 43322 Pathogenic - 32590 Benign - 17297 not provided - 13250 Likely pathogenic - 1938 other - 647 risk factor - 336 drug response - 145 association - 111 Affects - 57 protective - 2 not reported for simple variant +111345 Uncertain significance +49930 Likely benign +43012 Pathogenic +32556 Benign +17293 not provided +13037 Likely pathogenic +1938 other + 648 risk factor + 336 drug response + 145 association + 111 Affects + 57 protective + 13 not reported for simple variant ================ column 14: pathogenic - 189129 0 - 54377 1 +188610 0 +53854 1 ================ column 15: benign - 170979 0 - 72527 1 +170016 0 +72448 1 ================ column 16: conflicted - 242997 0 - 509 1 +241954 0 + 510 1 ================ column 17: review_status - 160526 criteria provided, single submitter - 31740 no assertion criteria provided - 23967 criteria provided, multiple submitters, no conflicts - 11178 no assertion provided - 8804 criteria provided, conflicting interpretations - 7268 reviewed by expert panel - 23 practice guideline +159488 criteria provided, single submitter +31728 no assertion criteria provided +23964 criteria provided, multiple submitters, no conflicts +11176 no assertion provided +8805 criteria provided, conflicting interpretations +7269 reviewed by expert panel + 23 practice guideline + 11 no assertion for the individual variant ================ -column 18: gold_stars - 169330 1 - 42918 0 - 23967 2 - 7268 3 - 23 4 +column 18: last_evaluated +93377 Jun 14, 2016 +20153 - +2033 Sep 08, 2016 +2033 Feb 01, 2013 +1748 Sep 19, 2013 +1625 Mar 25, 2016 +1556 Feb 08, 2013 +1503 Sep 05, 2013 +1440 Oct 18, 2016 +1011 Dec 04, 2012 + 901 Dec 01, 2015 + 813 Jan 12, 2015 + 711 Aug 18, 2011 + 670 Jun 24, 2013 + 636 Jul 20, 2016 + 455 Oct 02, 2015 + 442 Jan 01, 2016 + 431 Aug 31, 2016 + 375 Mar 27, 2016 + 342 Mar 01, 2016 + 323 Nov 24, 2014 + 320 Feb 23, 2015 + 319 Feb 25, 2016 + 311 Mar 08, 2016 + 304 Sep 28, 2016 + 302 Mar 28, 2016 + 294 Feb 24, 2016 + 287 Feb 26, 2016 + 286 Mar 31, 2016 + 276 Mar 03, 2016 + 268 Jul 31, 2016 + 264 Apr 30, 2012 + 256 Nov 27, 2014 + 256 Feb 05, 2015 + 253 Mar 14, 2016 + 250 Nov 24, 2015 + 249 Jan 07, 2016 + 249 Dec 22, 2015 + 246 Dec 16, 2015 + 244 Mar 10, 2016 + 243 Jan 29, 2016 + 242 Feb 11, 2016 + 241 May 10, 2012 + 238 Mar 13, 2014 + 237 Mar 17, 2016 + 229 Feb 19, 2016 + 227 Mar 29, 2016 + 227 Feb 01, 2016 + 222 Oct 08, 2014 + 220 Feb 23, 2016 + 218 Feb 09, 2016 + 213 Mar 04, 2016 + 213 Jan 18, 2016 + 209 Jan 25, 2016 + 209 Feb 05, 2016 + 206 Feb 12, 2016 + 205 Mar 18, 2016 + 203 Jan 08, 2015 + 199 Apr 13, 2016 + 195 Sep 03, 2015 + 195 Nov 20, 2015 + 195 Jun 07, 2016 + 195 Dec 20, 2014 + 192 Feb 18, 2016 + 191 Jan 12, 2016 + 186 Nov 25, 2015 + 186 Dec 07, 2015 + 185 Jun 01, 2014 + 185 Feb 02, 2016 + 185 Apr 22, 2016 + 184 Jan 27, 2016 + 183 Jan 22, 2016 + 181 Sep 06, 2016 + 180 Jul 30, 2015 + 179 Jun 11, 2014 + 178 Feb 15, 2016 + 177 Jun 01, 2015 + 177 Jan 14, 2016 + 176 Jan 21, 2016 + 174 Sep 14, 2016 + 174 Nov 19, 2015 + 173 Sep 01, 2016 + 173 Oct 31, 2014 + 173 Dec 01, 2014 + 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2015 + 141 Aug 08, 2016 + 140 Sep 20, 2016 + 140 Nov 12, 2015 + 140 Nov 05, 2015 + 140 Mar 02, 2016 + 140 Jul 01, 2015 + 140 Jan 19, 2016 + 140 Dec 28, 2015 + 140 Dec 23, 2015 + 139 Sep 22, 2016 + 139 Nov 17, 2015 + 139 Mar 06, 2015 + 139 Jun 30, 2016 + 139 Apr 01, 2015 + 138 Sep 01, 2009 + 138 Aug 18, 2015 + 137 Nov 06, 2014 + 137 Jun 16, 2015 + 137 Feb 10, 2016 + 136 Jul 16, 2015 + 136 Feb 06, 2016 + 136 Dec 03, 2015 + 136 Aug 12, 2016 + 135 Sep 15, 2016 + 135 Jan 15, 2016 + 134 Jun 02, 2015 + 134 Aug 01, 2013 + 133 Mar 05, 2016 + 133 Jul 28, 2015 + 133 Feb 20, 2015 + 133 Aug 26, 2016 + 132 Sep 28, 2015 + 132 Nov 13, 2015 + 132 Mar 11, 2015 + 132 Jan 13, 2015 + 132 Jan 01, 2014 + 132 Feb 26, 2015 + 132 Dec 25, 2015 + 132 Dec 21, 2015 + 132 Aug 15, 2016 + 131 May 28, 2015 + 130 Nov 03, 2016 + 130 May 19, 2015 + 130 Mar 12, 2015 + 130 Dec 08, 2016 + 129 Mar 30, 2015 + 129 Feb 21, 2013 + 129 Feb 04, 2016 + 129 Aug 30, 2016 + 128 Sep 10, 2015 + 128 Oct 13, 2015 + 128 Nov 18, 2015 + 128 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23, 2003 + 1 May 23, 1996 + 1 May 22, 2009 + 1 May 21, 2010 + 1 May 21, 2009 + 1 May 21, 2008 + 1 May 21, 2003 + 1 May 21, 1993 + 1 May 20, 2011 + 1 May 20, 2009 + 1 May 20, 1997 + 1 May 19, 2008 + 1 May 19, 2006 + 1 May 19, 2001 + 1 May 19, 1999 + 1 May 19, 1997 + 1 May 18, 2013 + 1 May 18, 2004 + 1 May 17, 2010 + 1 May 17, 1990 + 1 May 16, 2007 + 1 May 16, 2002 + 1 May 15, 2011 + 1 May 15, 2009 + 1 May 15, 2008 + 1 May 15, 1997 + 1 May 15, 1993 + 1 May 15, 1989 + 1 May 14, 2004 + 1 May 14, 1993 + 1 May 13, 2005 + 1 May 13, 1994 + 1 May 11, 2004 + 1 May 10, 2011 + 1 May 10, 2005 + 1 May 09, 2011 + 1 May 09, 2008 + 1 May 09, 1995 + 1 May 08, 1998 + 1 May 07, 2010 + 1 May 07, 2008 + 1 May 07, 1998 + 1 May 06, 2009 + 1 May 05, 2006 + 1 May 03, 1996 + 1 May 02, 2011 + 1 May 02, 1992 + 1 May 01, 1987 + 1 Mar 31, 1993 + 1 Mar 30, 2009 + 1 Mar 29, 2010 + 1 Mar 28, 2012 + 1 Mar 28, 2011 + 1 Mar 27, 2008 + 1 Mar 27, 2003 + 1 Mar 26, 2011 + 1 Mar 26, 2010 + 1 Mar 26, 2002 + 1 Mar 26, 1998 + 1 Mar 25, 2009 + 1 Mar 25, 1992 + 1 Mar 24, 2012 + 1 Mar 24, 2010 + 1 Mar 23, 2013 + 1 Mar 23, 2011 + 1 Mar 23, 2010 + 1 Mar 22, 2010 + 1 Mar 22, 1996 + 1 Mar 21, 2006 + 1 Mar 20, 2007 + 1 Mar 20, 1986 + 1 Mar 19, 2002 + 1 Mar 19, 1992 + 1 Mar 17, 2011 + 1 Mar 17, 2008 + 1 Mar 17, 2004 + 1 Mar 16, 2011 + 1 Mar 16, 2007 + 1 Mar 15, 1996 + 1 Mar 15, 1995 + 1 Mar 14, 2010 + 1 Mar 14, 2009 + 1 Mar 14, 2007 + 1 Mar 14, 2003 + 1 Mar 14, 1995 + 1 Mar 13, 2001 + 1 Mar 12, 2002 + 1 Mar 11, 2009 + 1 Mar 11, 1990 + 1 Mar 10, 2012 + 1 Mar 10, 1999 + 1 Mar 10, 1995 + 1 Mar 09, 2009 + 1 Mar 09, 2004 + 1 Mar 08, 2007 + 1 Mar 07, 2006 + 1 Mar 07, 1989 + 1 Mar 06, 2007 + 1 Mar 05, 2009 + 1 Mar 05, 2000 + 1 Mar 04, 2010 + 1 Mar 04, 2005 + 1 Mar 04, 1999 + 1 Mar 03, 2008 + 1 Mar 02, 2007 + 1 Mar 02, 2006 + 1 Mar 02, 2004 + 1 Mar 02, 1995 + 1 Mar 02, 1994 + 1 Jun 30, 2005 + 1 Jun 30, 1998 + 1 Jun 30, 1993 + 1 Jun 29, 2012 + 1 Jun 29, 2007 + 1 Jun 29, 2006 + 1 Jun 29, 2001 + 1 Jun 29, 1989 + 1 Jun 28, 2010 + 1 Jun 28, 2002 + 1 Jun 27, 1967 + 1 Jun 26, 2010 + 1 Jun 26, 2008 + 1 Jun 25, 2008 + 1 Jun 25, 2004 + 1 Jun 25, 1990 + 1 Jun 24, 2012 + 1 Jun 24, 2005 + 1 Jun 24, 2003 + 1 Jun 24, 1999 + 1 Jun 24, 1992 + 1 Jun 23, 2004 + 1 Jun 23, 1999 + 1 Jun 23, 1995 + 1 Jun 22, 1998 + 1 Jun 21, 1999 + 1 Jun 20, 2008 + 1 Jun 20, 2005 + 1 Jun 20, 2002 + 1 Jun 20, 1992 + 1 Jun 19, 2000 + 1 Jun 18, 2009 + 1 Jun 17, 2008 + 1 Jun 17, 1991 + 1 Jun 16, 2010 + 1 Jun 16, 1988 + 1 Jun 15, 2011 + 1 Jun 15, 2004 + 1 Jun 15, 2003 + 1 Jun 15, 2002 + 1 Jun 15, 2001 + 1 Jun 15, 1996 + 1 Jun 14, 2009 + 1 Jun 14, 2005 + 1 Jun 14, 1996 + 1 Jun 13, 2010 + 1 Jun 13, 2008 + 1 Jun 13, 1997 + 1 Jun 13, 1994 + 1 Jun 12, 2011 + 1 Jun 12, 2009 + 1 Jun 12, 2007 + 1 Jun 12, 1997 + 1 Jun 11, 2011 + 1 Jun 11, 2008 + 1 Jun 11, 2007 + 1 Jun 11, 1996 + 1 Jun 10, 2010 + 1 Jun 10, 2009 + 1 Jun 10, 1994 + 1 Jun 09, 2013 + 1 Jun 09, 2008 + 1 Jun 08, 2009 + 1 Jun 08, 1999 + 1 Jun 07, 2014 + 1 Jun 07, 2011 + 1 Jun 07, 2001 + 1 Jun 07, 1994 + 1 Jun 06, 2008 + 1 Jun 06, 2005 + 1 Jun 06, 2002 + 1 Jun 05, 2008 + 1 Jun 04, 2010 + 1 Jun 04, 1999 + 1 Jun 03, 2008 + 1 Jun 02, 2012 + 1 Jun 02, 2010 + 1 Jun 02, 2009 + 1 Jun 02, 2006 + 1 Jun 02, 2005 + 1 Jun 02, 2000 + 1 Jun 02, 1995 + 1 Jun 01, 1989 + 1 Jun 01, 1983 + 1 Jun 01, 1980 + 1 Jul 31, 2006 + 1 Jul 31, 2000 + 1 Jul 31, 1995 + 1 Jul 31, 1993 + 1 Jul 31, 1991 + 1 Jul 30, 2011 + 1 Jul 30, 2009 + 1 Jul 30, 2008 + 1 Jul 30, 1999 + 1 Jul 29, 1998 + 1 Jul 29, 1977 + 1 Jul 28, 2012 + 1 Jul 28, 2009 + 1 Jul 27, 2014 + 1 Jul 26, 2002 + 1 Jul 25, 2010 + 1 Jul 25, 2006 + 1 Jul 25, 1997 + 1 Jul 25, 1989 + 1 Jul 24, 2003 + 1 Jul 24, 1995 + 1 Jul 23, 2002 + 1 Jul 22, 2009 + 1 Jul 22, 2002 + 1 Jul 22, 2001 + 1 Jul 21, 2013 + 1 Jul 19, 2011 + 1 Jul 18, 1995 + 1 Jul 16, 2016 + 1 Jul 15, 2004 + 1 Jul 15, 1997 + 1 Jul 15, 1991 + 1 Jul 15, 1988 + 1 Jul 14, 2008 + 1 Jul 13, 2001 + 1 Jul 12, 2011 + 1 Jul 12, 2007 + 1 Jul 12, 2006 + 1 Jul 12, 1996 + 1 Jul 11, 2001 + 1 Jul 11, 1997 + 1 Jul 10, 1997 + 1 Jul 10, 1980 + 1 Jul 09, 2004 + 1 Jul 09, 1998 + 1 Jul 08, 2009 + 1 Jul 08, 2003 + 1 Jul 08, 1999 + 1 Jul 08, 1993 + 1 Jul 07, 2006 + 1 Jul 07, 2000 + 1 Jul 07, 1999 + 1 Jul 07, 1998 + 1 Jul 06, 2014 + 1 Jul 06, 2010 + 1 Jul 06, 2004 + 1 Jul 05, 1992 + 1 Jul 05, 1986 + 1 Jul 04, 2006 + 1 Jul 03, 2010 + 1 Jul 03, 2008 + 1 Jul 03, 2003 + 1 Jul 02, 2010 + 1 Jul 02, 2009 + 1 Jul 02, 2004 + 1 Jan 31, 2011 + 1 Jan 31, 2008 + 1 Jan 31, 1997 + 1 Jan 31, 1995 + 1 Jan 31, 1992 + 1 Jan 30, 2007 + 1 Jan 30, 2006 + 1 Jan 28, 2011 + 1 Jan 28, 2003 + 1 Jan 28, 2000 + 1 Jan 27, 2013 + 1 Jan 27, 2004 + 1 Jan 26, 2011 + 1 Jan 26, 2007 + 1 Jan 26, 2005 + 1 Jan 26, 1996 + 1 Jan 25, 2002 + 1 Jan 25, 1991 + 1 Jan 24, 2008 + 1 Jan 24, 2007 + 1 Jan 24, 2003 + 1 Jan 23, 2009 + 1 Jan 23, 1997 + 1 Jan 22, 2008 + 1 Jan 22, 2004 + 1 Jan 22, 1998 + 1 Jan 22, 1996 + 1 Jan 21, 2017 + 1 Jan 21, 2009 + 1 Jan 21, 2003 + 1 Jan 21, 1993 + 1 Jan 20, 2017 + 1 Jan 20, 2013 + 1 Jan 19, 2010 + 1 Jan 19, 1995 + 1 Jan 18, 2011 + 1 Jan 17, 2008 + 1 Jan 17, 2007 + 1 Jan 17, 2006 + 1 Jan 16, 1998 + 1 Jan 16, 1993 + 1 Jan 16, 1992 + 1 Jan 15, 2009 + 1 Jan 15, 2004 + 1 Jan 15, 1998 + 1 Jan 15, 1996 + 1 Jan 15, 1995 + 1 Jan 14, 2012 + 1 Jan 14, 2005 + 1 Jan 13, 2005 + 1 Jan 13, 1998 + 1 Jan 13, 1995 + 1 Jan 12, 2007 + 1 Jan 12, 2006 + 1 Jan 12, 2002 + 1 Jan 12, 2001 + 1 Jan 12, 1999 + 1 Jan 11, 2015 + 1 Jan 11, 2011 + 1 Jan 11, 2010 + 1 Jan 11, 1996 + 1 Jan 10, 2009 + 1 Jan 10, 2008 + 1 Jan 10, 2003 + 1 Jan 09, 2009 + 1 Jan 08, 2010 + 1 Jan 08, 2008 + 1 Jan 07, 2009 + 1 Jan 06, 2017 + 1 Jan 06, 2009 + 1 Jan 05, 2009 + 1 Jan 05, 2007 + 1 Jan 05, 1992 + 1 Jan 05, 1989 + 1 Jan 04, 2012 + 1 Jan 04, 2011 + 1 Jan 04, 2008 + 1 Jan 03, 2017 + 1 Jan 03, 1998 + 1 Jan 02, 2003 + 1 Jan 02, 2002 + 1 Jan 01, 1987 + 1 Jan 01, 1986 + 1 Jan 01, 1985 + 1 Jan 01, 1983 + 1 Jan 01, 1981 + 1 Jan 01, 1979 + 1 Jan 01, 1972 + 1 Feb 28, 2007 + 1 Feb 28, 2006 + 1 Feb 28, 2003 + 1 Feb 27, 2007 + 1 Feb 27, 2003 + 1 Feb 27, 2001 + 1 Feb 27, 1998 + 1 Feb 26, 2009 + 1 Feb 26, 1999 + 1 Feb 25, 2010 + 1 Feb 25, 2008 + 1 Feb 25, 1999 + 1 Feb 25, 1992 + 1 Feb 25, 1989 + 1 Feb 24, 2017 + 1 Feb 24, 2013 + 1 Feb 24, 2009 + 1 Feb 24, 2006 + 1 Feb 24, 1997 + 1 Feb 23, 2010 + 1 Feb 23, 2009 + 1 Feb 22, 2011 + 1 Feb 22, 2010 + 1 Feb 22, 2001 + 1 Feb 21, 2011 + 1 Feb 21, 1997 + 1 Feb 20, 1993 + 1 Feb 19, 2012 + 1 Feb 19, 2009 + 1 Feb 19, 1999 + 1 Feb 19, 1990 + 1 Feb 18, 2010 + 1 Feb 18, 1994 + 1 Feb 17, 2006 + 1 Feb 17, 2005 + 1 Feb 17, 2003 + 1 Feb 17, 1998 + 1 Feb 17, 1994 + 1 Feb 16, 2013 + 1 Feb 16, 2011 + 1 Feb 16, 1999 + 1 Feb 15, 2010 + 1 Feb 15, 2007 + 1 Feb 15, 2006 + 1 Feb 15, 1994 + 1 Feb 15, 1989 + 1 Feb 13, 1992 + 1 Feb 12, 1999 + 1 Feb 11, 2003 + 1 Feb 11, 1997 + 1 Feb 11, 1994 + 1 Feb 10, 2010 + 1 Feb 10, 2006 + 1 Feb 10, 1995 + 1 Feb 10, 1990 + 1 Feb 09, 2013 + 1 Feb 09, 2001 + 1 Feb 08, 2011 + 1 Feb 08, 2007 + 1 Feb 08, 2002 + 1 Feb 07, 2009 + 1 Feb 06, 1993 + 1 Feb 05, 2010 + 1 Feb 03, 2017 + 1 Feb 03, 2013 + 1 Feb 03, 2010 + 1 Feb 03, 1998 + 1 Feb 01, 1989 + 1 Feb 01, 1986 + 1 Dec 31, 2008 + 1 Dec 31, 1993 + 1 Dec 30, 2016 + 1 Dec 29, 2012 + 1 Dec 29, 2009 + 1 Dec 29, 2000 + 1 Dec 28, 2009 + 1 Dec 28, 2006 + 1 Dec 27, 2002 + 1 Dec 26, 2007 + 1 Dec 26, 1995 + 1 Dec 25, 2013 + 1 Dec 25, 2011 + 1 Dec 25, 2008 + 1 Dec 24, 1993 + 1 Dec 23, 2008 + 1 Dec 22, 2013 + 1 Dec 22, 2006 + 1 Dec 21, 2009 + 1 Dec 21, 2006 + 1 Dec 20, 2002 + 1 Dec 20, 1993 + 1 Dec 18, 2016 + 1 Dec 18, 2001 + 1 Dec 18, 1998 + 1 Dec 17, 2008 + 1 Dec 17, 2004 + 1 Dec 17, 1998 + 1 Dec 15, 2011 + 1 Dec 15, 1995 + 1 Dec 15, 1990 + 1 Dec 15, 1988 + 1 Dec 14, 2013 + 1 Dec 14, 2011 + 1 Dec 13, 2010 + 1 Dec 13, 2007 + 1 Dec 13, 2005 + 1 Dec 13, 2002 + 1 Dec 12, 2009 + 1 Dec 12, 2008 + 1 Dec 12, 1997 + 1 Dec 10, 2008 + 1 Dec 10, 2002 + 1 Dec 10, 1987 + 1 Dec 09, 2012 + 1 Dec 09, 2009 + 1 Dec 09, 1997 + 1 Dec 08, 2012 + 1 Dec 07, 2013 + 1 Dec 07, 2010 + 1 Dec 07, 2000 + 1 Dec 06, 2005 + 1 Dec 05, 2011 + 1 Dec 05, 1996 + 1 Dec 05, 1995 + 1 Dec 05, 1993 + 1 Dec 04, 2007 + 1 Dec 04, 2006 + 1 Dec 04, 2003 + 1 Dec 03, 2009 + 1 Dec 03, 2004 + 1 Dec 03, 1998 + 1 Dec 02, 1999 + 1 Dec 02, 1994 + 1 Dec 01, 1988 + 1 Dec 01, 1984 + 1 Dec 01, 1980 + 1 Aug 31, 2009 + 1 Aug 31, 1995 + 1 Aug 31, 1992 + 1 Aug 31, 1991 + 1 Aug 30, 2014 + 1 Aug 30, 2006 + 1 Aug 30, 2005 + 1 Aug 30, 2004 + 1 Aug 30, 1994 + 1 Aug 30, 1991 + 1 Aug 30, 1988 + 1 Aug 29, 2011 + 1 Aug 29, 2008 + 1 Aug 28, 2001 + 1 Aug 28, 2000 + 1 Aug 27, 2010 + 1 Aug 27, 2008 + 1 Aug 27, 1998 + 1 Aug 26, 1994 + 1 Aug 24, 2007 + 1 Aug 24, 2000 + 1 Aug 24, 1990 + 1 Aug 23, 2010 + 1 Aug 23, 2005 + 1 Aug 23, 2002 + 1 Aug 22, 2006 + 1 Aug 22, 2002 + 1 Aug 21, 2009 + 1 Aug 21, 1980 + 1 Aug 20, 1992 + 1 Aug 19, 2004 + 1 Aug 19, 1999 + 1 Aug 18, 2013 + 1 Aug 17, 2007 + 1 Aug 16, 2014 + 1 Aug 16, 2011 + 1 Aug 16, 1994 + 1 Aug 16, 1993 + 1 Aug 15, 1998 + 1 Aug 15, 1995 + 1 Aug 15, 1989 + 1 Aug 14, 2007 + 1 Aug 14, 1998 + 1 Aug 13, 2016 + 1 Aug 13, 2011 + 1 Aug 13, 2009 + 1 Aug 12, 2000 + 1 Aug 12, 1998 + 1 Aug 10, 2007 + 1 Aug 10, 1990 + 1 Aug 09, 2010 + 1 Aug 09, 2003 + 1 Aug 09, 2000 + 1 Aug 09, 1988 + 1 Aug 08, 1997 + 1 Aug 07, 2009 + 1 Aug 07, 2008 + 1 Aug 07, 2000 + 1 Aug 06, 2010 + 1 Aug 06, 2008 + 1 Aug 06, 1992 + 1 Aug 05, 1991 + 1 Aug 04, 2006 + 1 Aug 04, 2000 + 1 Aug 03, 2011 + 1 Aug 03, 2010 + 1 Aug 02, 2000 + 1 Aug 02, 1994 + 1 Aug 01, 1988 + 1 Aug 01, 1985 + 1 Apr 30, 2011 + 1 Apr 30, 2007 + 1 Apr 30, 1992 + 1 Apr 29, 2011 + 1 Apr 29, 2010 + 1 Apr 29, 2009 + 1 Apr 29, 2008 + 1 Apr 29, 1994 + 1 Apr 28, 2011 + 1 Apr 28, 2006 + 1 Apr 27, 2007 + 1 Apr 27, 1999 + 1 Apr 27, 1971 + 1 Apr 26, 1994 + 1 Apr 25, 2011 + 1 Apr 25, 2002 + 1 Apr 25, 2000 + 1 Apr 25, 1996 + 1 Apr 24, 2016 + 1 Apr 24, 2006 + 1 Apr 24, 1998 + 1 Apr 23, 1999 + 1 Apr 22, 2012 + 1 Apr 22, 2008 + 1 Apr 22, 2003 + 1 Apr 21, 2012 + 1 Apr 20, 2011 + 1 Apr 20, 2007 + 1 Apr 20, 2004 + 1 Apr 20, 2001 + 1 Apr 19, 2011 + 1 Apr 19, 2010 + 1 Apr 19, 2007 + 1 Apr 19, 2005 + 1 Apr 19, 1996 + 1 Apr 18, 2006 + 1 Apr 17, 2016 + 1 Apr 17, 1998 + 1 Apr 16, 2016 + 1 Apr 16, 2010 + 1 Apr 16, 2009 + 1 Apr 16, 2007 + 1 Apr 15, 1997 + 1 Apr 15, 1995 + 1 Apr 15, 1993 + 1 Apr 15, 1990 + 1 Apr 14, 2010 + 1 Apr 14, 2008 + 1 Apr 14, 2006 + 1 Apr 14, 2001 + 1 Apr 14, 1997 + 1 Apr 13, 2009 + 1 Apr 13, 2004 + 1 Apr 13, 1998 + 1 Apr 12, 2005 + 1 Apr 12, 1990 + 1 Apr 11, 2008 + 1 Apr 11, 1995 + 1 Apr 10, 2016 + 1 Apr 10, 2007 + 1 Apr 10, 2004 + 1 Apr 10, 2000 + 1 Apr 10, 1999 + 1 Apr 09, 2009 + 1 Apr 09, 2008 + 1 Apr 09, 2004 + 1 Apr 09, 1998 + 1 Apr 08, 2009 + 1 Apr 08, 2003 + 1 Apr 08, 2002 + 1 Apr 08, 1993 + 1 Apr 07, 1983 + 1 Apr 06, 2007 + 1 Apr 06, 2006 + 1 Apr 06, 2001 + 1 Apr 06, 1992 + 1 Apr 05, 2007 + 1 Apr 05, 1999 + 1 Apr 04, 2011 + 1 Apr 04, 1991 + 1 Apr 02, 2002 + 1 Apr 01, 1981 ================ -column 19: all_submitters - 94559 Illumina Clinical Services Laboratory,Illumina - 31470 GeneDx - 28497 Emory Genetics Laboratory,Emory University - 22054 Invitae - 21042 OMIM - 19246 Ambry Genetics - 16183 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine - 15685 PreventionGenetics,PreventionGenetics - 10246 Genetic Services Laboratory, University of Chicago - 5671 Counsyl - 5268 GeneReviews - 4816 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - 3006 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge - 2690 ITMI - 2231 Sharing Clinical Reports Project (SCRP) - 2211 Biesecker Lab/Human Development Section,National Institutes of Health - 2105 InSiGHT - 1872 Breast Cancer Information Core (BIC) (BRCA2) - 1655 Breast Cancer Information Core (BIC) (BRCA1) - 1640 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia - 1573 Tuberous sclerosis database (TSC2) - 1526 Retina International - 1521 LabCorp - 1521 LDLR-LOVD, British Heart Foundation - 1516 Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust - 1231 ARUP Institute,ARUP Laboratories - 1197 Blueprint Genetics - 1081 Epithelial Biology, Institute of Medical Biology, Singapore - 1052 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics - 1024 Systems Biology Platform Zhejiang California International NanoSystems Institute - 973 Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - 921 UniProtKB/Swiss-Prot - 903 University of Washington Department of Laboratory Medicine,University of Washington - 828 Juha Muilu Group, Institute for Molecular Medicine Finland (FIMM) - 770 RettBASE - 692 CSER_CC_NCGL, University of Washington Medical Center - 629 Unité médicale des maladies autoinflammatoires, CHRU Montpellier - 564 Praxis fuer Humangenetik Tuebingen, - 556 Tuberous sclerosis database (TSC1) - 535 Human Evolutionary Genetics, Institut Pasteur - 534 Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre - 531 Stanford Center for Inherited Cardiovascular Disease,Stanford University - 524 DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE - 509 Centre for Mendelian Genomics,University Medical Centre Ljubljana - 482 Quest Diagnostics Nichols Institute San Juan Capistrano - 439 Baylor Miraca Genetics Laboratories - 407 Science for Life laboratory, Karolinska Institutet - 395 Richard Lifton Laboratory, Yale University School of Medicine - 385 Mayo Clinic Genetic Testing Laboratories,Mayo Clinic - 385 Collagen Diagnostic Laboratory - 379 Academic Unit of Haematology, University of Sheffield - 376 Leiden Muscular Dystrophy (RYR1) - 332 VIB Department of Molecular Genetics, University of Antwerp - 321 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine - 316 Michigan Medical Genetics Laboratories,University of Michigan - 315 GenMed Metabolism Lab - 302 Clinical Biochemistry Laboratory,Health Services Laboratory - 280 UW Hindbrain Malformation Research Program,University of Washington - 276 Athena Diagnostics Inc - 245 Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge - 238 Pathway Genomics - 236 Psychiatry Genetics Yale University - 234 Martin Pollak Laboratory, Beth Israel Deaconess Medical Center - 227 CFTR2 - 221 ClinVar Staff, National Center for Biotechnology Information (NCBI) - 213 Center for Bioinformatics, Peking University - 212 PALB2 database - 191 Department of Ophthalmology and Visual Sciences Kyoto University - 181 HudsonAlpha Institute for Biotechnology - 172 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg - 171 Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals - 164 PharmGKB - 163 UCLA Clinical Genomics Center, UCLA - 159 Knight Diagnostic Laboratories,Oregon Health and Sciences University - 155 Robarts Research Institute,University of Western Ontario - 148 Color Genomics, Inc. - 146 ARUP Laboratories, Molecular Genetics and Genomics - 137 Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital - 117 Medical Research Institute,Tokyo Medical and Dental University - 116 Vantari Genetics - 114 Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University - 112 SNPedia - 106 Diasio Lab, Mayo Clinic - 101 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire - 99 Harris Lab, University of Minnesota - 97 Genomic Research Center,Shahid Beheshti University of Medical Sciences - 96 Claritas Genomics, - 95 NEI DNA Diagnostic Laboratory,National Institutes of Health - 94 Cancer Genetics Laboratory,Peter MacCallum Cancer Centre - 91 Laboratory of Genetics and Molecular Cardiology,University of São Paulo - 87 University Children's Hospital, University of Zurich - 87 Mendelics Analise Genomica - 86 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare - 82 International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota - 82 GeneKor MSA - 80 Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center - 79 University of Washington Center for Mendelian Genomics, University of Washington - 79 Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital - 79 Dept. of Genetics and Pharmacogenomics, Merck Research Labs - 72 Division of Human Genetics,Children's Hospital of Philadelphia - 70 Agnes Ginges Centre for Molecular Cardiology,Centenary Institute - 69 Inserm U 954, Faculté de Médecine de Nancy - 67 Neurogenetics Laboratory - MEYER,AOU Meyer - 66 Leiden Muscular Dystrophy (CAV3) - 65 Laboratory of Molecular Genetics,CHU RENNES - 64 Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics - 63 Paul Sabatier University EA-4555, Paul Sabatier University - 63 Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine - 61 Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere - 61 Genome Clinic of Geneva,University Hospital of Geneva - 58 Department of Zoology Govt. MVM College - 56 Center for Genetic Medicine Research,Children's National Medical Center - 53 ZMPSTE24 homepage - Leiden Muscular Dystrophy pages - 53 Laboratory of Genomics and Molecular Biology,A. C. Camargo Cancer Center - 53 Eye Genetics Research Group,Children's Medical Research Institute - 52 Casey Eye Institute Glaucoma Genetics Lab - 50 Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics - 48 Leiden Muscular Dystrophy (MYPN) - 47 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University - 46 Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology - 46 Albrecht-Kossel-Institute,Medical University Rostock - 45 Division of Human Genetics Innsbruck,Medical University Innsbruck - 44 Immunobiology Lab, University of Kashmir - 44 Center for Medical Genetics Ghent,University of Ghent - 42 University of Sydney Medical Foundation - 42 Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children - 42 Courtagen Diagnostics Laboratory,Courtagen Life Sciences - 42 CHU Sainte-Justine Research Center,University of Montreal - 40 Laboratory of Translational Genomics, National Cancer Institute - 39 Genetic Testing Lab,Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences - 37 Northcott Neuroscience Laboratory, ANZAC Research Institute - 37 Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. - 36 Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital - 36 Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital - 35 Molecular Psychiatry Laboratory, RIKEN - 33 Willoughby Group, Queen's University Belfast - 33 Victorian Clinical Genetics Services,Murdoch Childrens Research Institute - 33 Research Lab, National Institute of Public Health - 32 Department of Medical Genetics,University Hospital of North Norway - 32 ANO5 homepage - Leiden Muscular Dystrophy pages - 31 Leiden Muscular Dystrophy (TPM1) - 30 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata - 29 Laboratory of Prof. Karen Avraham,Tel Aviv University - 28 Centre for molecular medicine, Karolinska Institutet - 27 Diagnostic Laboratory,Strasbourg University Hospital - 26 Molecular Diagnostics Laboratory,Seoul National University Hospital - 26 Medical Genetics Unit, Ain Shams University Pediatrics Hospital - 26 Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust - 26 Division of Molecular Genetics and Division of Molecular Medicine, Department of Research and Development,Faculty of Medicine Siriraj Hospital, Mahidol University - 26 Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee - 25 Institut de genetique medicale,Centre Hospitalier Regional Universitaire de Lille - 24 Institute for Integrative and Experimental Genomics,University of Luebeck - 24 Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital - 23 Wellcome Trust Centre for Mitochondrial Research, Newcastle University - 23 TPM2 homepage - Leiden Muscular Dystrophy pages - 23 Section of Medical Genetics, Telemark Hospital - 23 Gray Institute for Radiation Oncology & Biology, University of Oxford - 23 Department of Molecular and Human Genetics, Baylor College of Medicine - 23 Center for Neuroscience and Cell Biology,University of Coimbra, Portugal - 23 American College of Medical Genetics and Genomics (ACMG) - 22 Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia, Istituto Superiore di Sanità - 22 Rajkovic Lab, University of Pittsburgh - 22 Leiden Muscular Dystrophy (MYL2) - 22 Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) - 22 Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS - 22 Clinical Genetics Research Group, University of Calgary - 21 Tulane Cancer Center,Tulane University - 21 Dr. Guy Rouleau's laboratory,McGill University - 21 Chan Lab,Boston Children's Hospital - 20 Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela - 20 Medical Biology Lab, Gaziantep University - 20 James Howe Lab,University of Iowa Hospital and Clinics - 20 Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. - 19 SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation - 19 Institute. of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague - 19 HerediLab, Inc. - 19 Familial Cancer Clinic,Veneto Institute of Oncology - 19 Department of Medical Genetics,Oslo University Hospital - 18 NeuroMeGen,Hospital Clinico Santiago de Compostela - 18 Lee Lab(KAT6B), Baylor College of Medicine - 18 Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center - 18 Human Genetics Disease in Children – Taif University,Taif University - 18 Division of Medical Genetics, Sainte-Justine Hospital - 18 Cardiovascular Biomarker Research Laboratory,Mayo Clinic - 17 Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health - 17 TPM3 homepage - Leiden Muscular Dystrophy pages - 17 Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. - 16 Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd - 16 Molecular Pathology, SA Pathology - 16 Elahi Laboratory, University of Tehran - 15 Shanghain Institute for Pediatric Research - 15 Neurogenetics Laboratory,Royal Perth Hospital - 15 National Institute of Mental Health and Neurosciences - 15 Molecular Genetics Laboratory, Baylor College of Medicine - 15 Department of Internal Medicine, University of Texas Health Science Center at Houston - 15 Department of Genetics,Robert DEBRE University Hospital - 15 Deafness Gene Diagnosis,Xijing Hospital - 14 Whole genome laboratory, Baylor College of Medicine - 14 Shaikh Laboratory, University of Colorado - 14 Service de Génétique Moléculaire,Hôpital Robert Debré - 14 Leiden Muscular Dystrophy (MYL3) - 14 Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health - 14 Cytogenetics Laboratory,Banaras Hindu University - 13 State Key Lab of Medical Genetics, Central South University - 13 Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília - 13 Laboratory of Genomics, Instituto Nacional de Cardiología Ignacio Chávez - 13 Karsan Lab,BC Cancer Agency - 13 Genetic Diagnostic Laboratory,University of Szeged - 13 Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences - 13 Department of Molecular Biophysics, University of Lodz - 13 Department of Immunology,Hospital Universitario Virgen del Rocio - 13 Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital - 12 Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute - 12 Leiden Muscular Dystrophy (TNNT1) - 12 Institute of Human Genetics,University of Wuerzburg - 12 GOLD service, Hunter New England Health - 12 Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry - 12 Centre of Medical Genetics, University of Antwerp - 12 Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, - 11 Seattle Children's Research Institute - 11 Osteogenesis Imperfecta Variant Database (PPIB) - 11 Klein lab,Ludwig-Maximilians-University - 11 Department of Pharmacy and Biotechnology,University of Bologna - 11 Center for Human Genetics,University of Leuven - 10 Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) - 10 Neurogenetics Research, Murdoch Childrens Research Institute - 10 Molecular and Medical Genetics Group,King's College London - 10 McDonnell Genome Institute,Washington University in St. Louis - 10 Leiden Muscular Dystrophy (TNNT3) - 10 Centre de Recherche Saint Antoine, Université Pierre et Marie Curie - 9 UMR_S938_Pr. Le Bouc INSERM - 9 Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University - 9 National Institute on Deafness and Communication Disorders,National Institutes of Health - 9 MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA - 9 Leiden Muscular Dystrophy (DAG1) - 9 Leeds Vision Research Group,University of Leeds - 9 Leeds Amelogenesis Imperfecta Research Group,Leeds University - 9 Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) - 9 Institute for Medical Genetics and Human Genetics,Charité - Universitätsmedizin Berlin - 9 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center - 9 IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) - 9 Human Genetics School of Medicine of Albacete, Castilla-La Mancha University - 9 Genomics and Pathology Services,Washington University in St.Louis - 9 Functional Genomics, Thrombosis Research Institute, India - 9 Dr. Peter K. Rogan Lab,Western University - 9 Department of Medical Genetics, Faculty of Medicine,Ege University - 9 Center for Statistical Genetics,Baylor College of Medicine - 9 Center for Individualized Medicine,Mayo Clinic - 8 TNNI2 homepage - Leiden Muscular Dystrophy pages - 8 Neurogenetics of motion laboratory,Montreal Neurological Institute - 8 Molecular Genetics and Enzymology, National Research Centre - 8 Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories - 8 Medizinische Klinik 1/ Institut für Bioinformatik,Universitätsklinikum Großhadern, München/ Helmholtz Zentrum München - 8 Leiden Muscular Dystrophy pages (B3GALNT2) - 8 Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven - 8 Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM - 8 Laboratorio de Genetica Humana, Universidad de los Andes - 8 Karolinska institutet - 8 Johns Hopkins Genetic Resources Core Facility, Johns Hopkins University - 8 Institute for Ophthalmic Research,University Tuebingen - 8 Genetics Research Center,University of Social Welfare and Rehabilitation Sciences - 8 Faculty of Pharmacy,Medical University of Gdansk - 8 Center for Genomic Medicine,Kyoto University Graduate School of Medicine - 7 Samuels research lab,Centre de Recherche du CHU Ste-Justine - 7 Molecular Genetics Lab,Istituto Giannina Gaslini - 7 Laboratory of Molecular Genetics, Faculty of Medical Sciences - University of Campinas - 7 Laboratory of Metabolic Disorders,Peking University First Hospital - 7 L V Prasad Eye Institute, Hyderabad Eye Research Foundation - 7 Institute of Human Genetics,Cologne University - 7 Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer - 7 Forschungslabor Klinik Innere Medizin A University Medicine Greifswald - 7 Department of Breast and Endocrine Surgery,Kumamoto University - 7 Centro de Genética y Biología Molecular,Universidad de San Martín de Porres - 6 Weber Lab,Hannover Medical School - 6 Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas - 6 Translational Genetics in Neurodegenerative disease,Karolinska Institutet - 6 Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development - 6 STRNAD Lab, University Hospital of Ulm - 6 Pediatric Endocrinology Laboratory, Christian Albrechts University of Kiel - 6 Neurogenetic Laboratory,Oslo University Hospital - 6 Narod's Lab, University of Toronto - 6 Leiden Muscular Dystrophy (MYOZ2) - 6 Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg - 6 Hehr Laboratory,Center for Human Genetics - University of Regensburg - 6 Genetics, Bhagwan Mahavir Medical Research Centre - 6 Faculty of Pharmacy, Ain Shams University - 6 Bone Marrow Failure laboratory,Queen Mary University London - 6 Andelfinger Lab,Centre de Recherche, CHU Sainte Justine - 5 Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics - 5 Science and Research Branch, Islamic Azad University,Islamic Azad University - 5 Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust - 5 Medical Genomics Laboratory,Department of Genetics UAB - 5 Laboratory of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital - 5 Laboratoire de Génétique Moléculaire, CHU Pontchaillou - 5 Institute of Human Genetics,University Medical Center Hamburg-Eppendorf - 5 George Lab Vanderbilt University - 5 Genetics Research Lab, Taif University - 5 Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) - 5 Flinders Ophthalmology,Flinders University - 5 Department of Psychiatry,Nagoya University - 5 Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences - 5 Department of Immunology, Genetics and Pathology, Uppsala University - 5 DST/NWU Preclinical Drug Development Platform,North-West University - 5 Curoverse - 5 Cole and Hamvas Lab, Washington University - St. Louis - 5 Centre for Genetic Disorders, Banaras Hindu University - 5 Centre de Biotechnologie de Sfax,Université de Sfax - 5 Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory,Brigham and Women's Hospital - 5 Brain and Spine Institute,INSERM - 5 Bonnen Lab,Baylor College of Medicine - 5 Blood Cell Research,Sanquin - 5 Australian Red Cross Blood Service - 4 Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS - 4 Veritas Genetics,Veritas Genetics - 4 Unit U781, INSERM (Institut National de la Santé Et de la Recherche Médicale) - 4 UF de Génétique Moléculaire,Hôpital Lariboisière - 4 Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) - 4 Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus - 4 Pediatric Services,National Institutes of Health, Clinical Center - 4 Oral and Maxillofacial Surgery,Tokyo Medical and Dental University - 4 Nyegaard lab, Aarhus University - 4 Medical Molecular Genetics,University of Birmingham - 4 Medical Genetics of Dicle University - 4 MVZ Praenatalmedizin und Genetik Nuernberg - 4 Lyon Laboratory, Cold Spring Harbor Laboratory - 4 Ludwig Lab, Institute of Human Genetics, University Hospital Bonn - 4 Leiden Muscular Dystrophy (PDLIM3) - 4 Kruer lab,Phoenix Children's Hospital - 4 Institute of Human Genetics,University Hospital Ulm - 4 Institute for Genetics of Heart Diseases, University Hospital Muenster - 4 Institut Pasteur du Maroc - 4 Gene Discovery Core-Manton Center,Boston Children's Hospital - 4 Endocrine Unit 2,University Hospital of Pisa - 4 Division of Blood Purification,Kakanzawa University’ - 4 Department of Prenatal Diagnosis, Center for Genetic Medicine,Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University - 4 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences - 4 Department of Human Genetics,University of Michigan - 4 Department of Hematology,University of Health Sciences - 4 Congenital Heart Disease Genetic Program Lab,American University of Beirut - 4 Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire,Strasbourg University - CNRS UMR 7104 - Inserm U 964 - 4 Centre for Genomic Sciences,University of Hong Kong - 4 Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics - 4 Center for Narcolepsy, Stanford University - 4 AG Schumann,Charité Universitätsmedizin Berlin - 3 Universitäts-Kinderspital Zürich - 3 University of British Columbia - 3 UCL Genetics Institute,UCL - 3 TilsonLab,Columbia University - 3 Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute - 3 Puck Laboratory, University of California, San Francisco - 3 Peking Union Medical College Hospital - 3 Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine,University Medical Center Freiburg - 3 Pediatric Diabetes Laboratory, Experimental and Clinical Research Center (ECRC) - 3 Osteogenesis Imperfecta Variant Database (SERPINF1) - 3 National Center for Biotechnology Information, National Institutes of Health - 3 Mount Sinai Genetic Testing Laboratory,Icahn School of Medicine at Mount Sinai - 3 Molecular Oncology Laboratory,Centre Jean Perrin - 3 Molecular Genetics and RNA Biology,University of Milan - 3 Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences - 3 Medical Genetic Department,Shiraz University Of Medical Science - 3 McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University - 3 Mayo Muscle Lab, Mayo Clinic - 3 Leiden Muscular Dystrophy (DPM3) - 3 Language and Genetics Department,Max Planck Institute for Psycholinguistics - 3 Laboratory of Molecular Genetics,National Institutes of Health - 3 Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion - 3 Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics - 3 Laboratoire de Génétique et de Physiologie Neuroendocrinienne, Faculté des Sciences - 3 Lab of Dermatology, Peking University First Hospital - 3 Institute of Microbiology, University Hospital and Univeristy of Lausanne - 3 Human Genetics,Philipps Universitaet Marburg - 3 Hospital of the University of Pennsylvania,Center for Personalized Diagnostics - 3 Harry Perkins Institute of Medical Research,University of Western Australia - 3 Genome Diagnostics Laboratory,University Medical Center Utrecht - 3 Garry R Cutting Laboratory,Johns Hopkins University - 3 Engle Laboratory,Boston Children's Hospital - 3 E. Rossignol Lab,CHU Ste-Justine, Universite de Montreal - 3 Department of Research and Development,Institute Hermes Pardini - 3 Department of Plant Molecular and Cellular Biology Adam Mickiewicz University - 3 Department of Pediatrics,Kobe University - 3 Department of Neurology, University Hospital of Strasbourg - 3 Department of Endocrinology and Metabolism,The First Affiliated Hospital of Sun Yet-sen University - 3 Department of Clinical Genetics,Oxford University Hospitals NHS Trust - 3 Department of Biological Science,Sunandan Divatia School of Science, NMIMS University - 3 Clinical Genetics Laboratory of Dermatology,Peking University First Hospital - 3 Child and Family Research Institute - 3 Centre of Chronic Immunodeficiency, Freiburg University - 3 Centre for Genomic and Experimental Medicine,University of Edinburgh - 3 Biology Pathology Center,Lille University Hospital - 3 Atomic Energy Commission of Syria (AECS) - 3 Akiko Shimamura Lab,Fred Hutchinson Cancer Research Center - 2 idemuth, Charité - Universiätsmedizin Berlin - 2 University of Arizona Genetics Core,University of Arizona - 2 U955 Equipe 11,INSERM - 2 Systems Biology Division, Zhejiang-California International Nanosystems Institute - 2 Shendure Lab,University of Washington - 2 Sharon E. Plon Laboratory,Baylor College of Medicine - 2 Reutter Lab, Institute of Human Genetics,University Hospital Bonn - 2 Reproductive Endocrinology and immunology College of Medicine, National Cheng Kung University - 2 Radiation Cancer Biology Lab, University of Rajasthan Jaipur - 2 Northern Blood Research Centre, University of Sydney - 2 Neurology Department,Peking University First Hospital - 2 Molecular Neurogenomics lab,VIB Department of Molecular Genetics, University of Antwerp - 2 Molecular Genetics and RNA Biology, Humanitas University - 2 Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute - 2 Mitochondrial Research, Murdoch Childrens Research Institute - 2 Miller Lab NIH/NIDDK - 2 Medical Genetics,University of Parma - 2 Mayo Clinic Health System - Franciscan Health care,Mayo Clinic Health System - 2 Manipal Health Enterprises Pvt Ltd, Manipal Hospital - 2 Laboratório de Genética Molecula,r University of Campinas - Unicamp - 2 Laboratório de Genética Humana e Médica, Universidade Federal do Pará - 2 Laboratory of Human Genetics, Universidade de São Paulo - 2 Lab. of Molecular Biology of Arterial Hypertension University of Padova - 2 Korbonits Lab,Queen Mary University of London - 2 King Laboratory,University of Washington - 2 Kangwon National University Hospital - 2 Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University - 2 Institute of Human Genetics,University of Goettingen - 2 Institute of Experimental Endocrinology,Slovak Academy of Sciences - 2 Institut für Integrative und Experimentelle Genomik, Universität zu Lübeck - 2 Innovations Lab, Hyderabad,Tata Consultancy Services Ltd - 2 Human Genetics and Genome Research Division,National Research Centre - 2 Heart Center,Academic Medical Center Amsterdam - 2 Hauner Childrens Hospital, Department of Pediatrics,Dr. von Hauner Children's Hospital, Ludwig Maximilians University - 2 Genomic Medicine Lab,University of Southampton - 2 GenePathDx,Causeway Health Care Private Ltd - 2 FRIGE's Institute of Human Genetics - 2 FORGE Canada,Children's Hospital of Eastern Ontario - 2 Erez Levanon lab,Bar Ilan University - 2 Duke University Health System Sequencing Clinic,Duke University Health System - 2 Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center - 2 Devine Lab Institute for Genome Sciences, University of Maryland School of Medicine - 2 Department of Prosthodontics,Peking University School and Hospital of Stomatology - 2 Department of Oral Pathology,Peking University School and Hospital of Stomatology - 2 Department of Neurology The University of Tokyo, Graduate School of Medicine - 2 Department of Medical Genetics,Gazi University - 2 Department of Immunology, School of Medicine,Complutense University - 2 Department of Endocrinology,The Affiliated hospital of QingDao University - 2 DNA Repair Laboratory,Institute of Biomedical Sciences - University of Sao Paulo - 2 Clinics for Rare Diseases Referral (Hong Kong),The University of Hong Kong - 2 Clinical Genetics Karolinska University Hospital,Karolinska University Hospital - 2 Center for Personalized Medicine, Roswell Park Cancer Institute - 2 Center for Human Genetics,University Hospitals Case Medical Center/Case Western Reserve University - 2 Center for Applied Genomics,Children's Hospital of Philadelphia - 2 Care4Rare,CHEO - 2 American University of Beirut,Same Uiversity Hospital - 2 Alzheimer Center and Department of Neurology, VU University Medical Center - 1 emedgene Technologies - 1 University of Washington School of Medicine - 1 University of Mississippi Medical Center,University of Mississippi - 1 UZ-KU Leuven,KU Leuven - 1 UDP Translational Laboratory,National Institute of Health - 1 Toronto General Hospital,University of Toronto - 1 Thoracic Oncology,University of Hawaii Cancer Center - 1 The International Peace Maternity & Child Health Hospital,Shanghai Jiao Tong University School of Medicine - 1 The Institute of Human Genetics, Galilee Medical Center - 1 The Institute for Molecular Bioscience,The University of Queensland - 1 The Canberra Hospital - 1 Texas Scottish Rite Hospital for Children - 1 Stoller Lab Children's Hospital of Philadelphia - 1 Sidra Medical and Research Center - 1 Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences - 1 Shiraz Comprehensive Medical Genetics Center,Shiraz University of Medical Sciences - 1 Servicio inmunologia,Hospital 12 de Octubre - 1 Scientific Bio-Minds - 1 School of Biological Sciences, University of the Punjab - 1 Sankaran Lab,Boston Children's Hospital - 1 Russ Altman Lab,Stanford University - 1 Rui Chen Lab,Baylor College of Medicine - 1 Research lab,Institute of Genetics and Molecular and Cellular Biology - 1 Research Centre for Medical Genetics - 1 Research Center for Immunodeficiencies,Tehran University of Medical Sciences - 1 Rappaport Faculty of Medicine,Technion-Israel Institute of Technology - 1 Rademakers Lab,Mayo Clinic - 1 QMC Molecular Diagnostics,Queen's Medical Center - 1 Pôle de Biologie Pathologie Génétique,CHRU LILLE - 1 Programa de Ciencias Genomicas e Biotecnologia,Universidade Catolica de Brasilia - 1 Pharmacogenetics and Inflammatory Diseases Research Group, University of Otago - 1 Petrovsky National Research Centre of Surgery,The Federal Agency for Scientific Organizations - 1 Personalis, Inc. - 1 Osteogenesis Imperfecta Variant Database (SP7) - 1 Neurology IV Unit, Fondazione Istituto Neurologico C. Besta - 1 Neurogenetics Laboratory,GH Pitie Salpetriere APHP - 1 NeuroCure Clinial Research Center,Charite Universitaetsmedizin Berlin - 1 National Centre for Medical Genetics,Crumlin Children's Hospital, Dublin - 1 NCBI curation - 1 Mutsuddi Laboratory, Department of Molecular and Human Genetics,Banaras Hindu University - 1 Molecular and pathophysiological bases of cognitive disorders,Institute Imagine - 1 Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics - 1 Molecular Metabolic laboratory,Sheba Medical Center Tel-Hashomer - 1 Molecular Genetics Unit, Terrassa Hospital - 1 Molecular Genetics Laboratory, Institute for Ophthalmic Research - 1 Molecular Genetics Department,Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology - 1 Molecular Genetic Center,Genetaq - 1 Molecular Diagnostics Laboratory,Hospital Sainte-Justine - 1 Molecular Diagnostics Lab,GoPath Laboratories - 1 Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital - 1 Miami Human Genetics,University of Miami Miller School of Medicine - 1 Medical Genetics,Meyer Children Hospital - 1 Medical Genetics and Mitochondrial Research group,Latvian Biomedical Research and Study center - 1 Medical Genetics Unit,Zeynep Kamil Women and Children's Hospital - 1 Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro - 1 McDonald Lab, Albert Einstein College of Medicine - 1 Max Planck Institute for Molecular Genetics - 1 MS Genetics Lab,University of British Columbia - 1 Laboratory of Personalized Genomic Medicine,Columbia University Medical Center - 1 Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology - 1 Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes - 1 Laboratory of Molecular Biology and Genetics,St Antoine Hospital - APHP - 1 Laboratorio de Biomedicina,Instituto de Biotecnología de Misiones - 1 Laboratoire de Biologie Moléculaire,Centre Hospitalo-Universitaire - 1 Labor Lademannbogen MVZ GmbH - 1 Lab of Molecular Dermatology,University Medical Center Freiburg - 1 Keegan Laboratory,University of Michigan - 1 Kariminejad-Najmabadi Pathology and Genetics Center,KNPGC - 1 Institute of metabolic science - 1 Institute of Human Genetics,Martin-Luther-Universität Halle-Wittemberg - 1 Institute of Human Genetics,Justus-Liebig University - 1 Institute of Human Genetics,FAU Erlangen-Nuremberg - 1 Institute of Human Genetics, RWTH University Hospital Aachen - 1 Institute of Experimental Medicine, Department of Genetics,Istanbul University - 1 Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo - 1 Institute for Clinical Genetics, TU Dresden - 1 Inherited Metabolic Diseases Molecular Laboratory,University of Cape Town / National Health Laboratory Services - 1 INSERM U1051,Institut des Neurosciences de Montpellier - 1 Human Population Biology Research Unit, Department of Anatomy and Anthropology, Sackler Faculty of Medicine,Tel Aviv University - 1 Human Molecular Genetics Lab,Quaid-I-Azam University - 1 Human Genetics,Leiden University Medical Centre - 1 Human Genetics Research Group, DBT,Shri Mata Vaishno Devi University - 1 Human Genetics Research Centre, St George's University of London - 1 Hadassah Hebrew University Medical center - 1 Génétique des Anomalies du Développement (GAD), Université de Bourgogne - 1 Guangxi Key laboratory of Metabolic Diseases Research, Guilin 181st Hospital - 1 Gromoll Lab CeRA, University of Muenster - 1 Genome Sciences Centre,British Columbia Cancer Agency - 1 Genetic Testing Lab, University of Kentucky College of Medicine - 1 Genetech,Genetech Research Institute - 1 Geha Laboratory, Boston Childrens Hospital - 1 Garg Lab, Nationwide Children's Hospital - 1 Gahl Group, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health - 1 GENETICS INSTITUTE,National university of Colombia - 1 Fulgent Genetics,Fulgent Genetics - 1 Fujian Institute of Hematology, Fujian Medical University - 1 Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences - 1 Foundation Medicine, Inc. - 1 Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong - 1 Faculty of Medicine, Iran University of Medical Sciences (IUMS) - 1 Faculty of Health Sciences-Genetics Diagnosis Lab,Islamic University of Gaza - 1 Evolutionary and Medical Genetics Laboratory,Center for Cellular and Molecular Biology - 1 Dhiti Omics Technologies Pvt. Ltd. - 1 Dept of Medicine and Surgery, University of Milano-Bicocca - 1 Dept of Medical Genetics, Shandong University - 1 Dept of Clinical Genetics,Karolinska University Hospital Solna - 1 Department of Zoology,University of the Punjab, Lahore - 1 Department of Women and Children's Health,University of New South Wales - 1 Department of Pediatrics,1st Faculty of Medicine, Charles University in Prague - 1 Department of Paediatric Surgery,The Canberra Hospital - 1 Department of Neuroscience, King Faisal Specialist Hospital - 1 Department of Molecular and Medical Genetics,Osaka Medical Center for Cancer and Cardiovascular Diseases - 1 Department of Medicine, University of Cambridge - 1 Department of Medical Genetics,University of Szeged - 1 Department of Medical Genetics,National Institute of Health - 1 Department of Human Genetics Rambam Health Care Campus - 1 Department of Genetics,Yale University - 1 Department of Genetics,University Medical Center Groningen, University of Groningen - 1 Department of Genetics, Osmania University - 1 Department of Clinical Science, University of Bergen - 1 Department of Anatomy, Embryology and Physiology,Academic Medical Center - 1 Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon - 1 Datar Genetics Limited, India,Datar Genetics Limited, India - 1 Community Genetics, University of British Columbia - 1 College of Pharmacy,University of Babylon - 1 Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation - 1 Clinical Genetics, Erasmus University Medical Center - 1 Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm - 1 Choi Lab,Seoul National University - 1 Childrens Diabetes Center,University of Wisconsin-Madison - 1 Centro Hospitalar S Joao,Faculty of Medicine of Porto - 1 Centro Diagnostico Italiano - 1 Centre for Translational Omics - GOSgene,University College London - 1 Centre for Molecular Medicine and Therapeutics,University of British Columbia - 1 Central Laboratory, The First Affiliated Hospital, Jinan University - 1 Center for Medical Genomics, Jagiellonian University Medical College - 1 Center for Genomic Medicine,University of Copenhagen - 1 Center for Breast Cancer,National Cancer Center - 1 Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute - 1 CVG, University of British Columbia - 1 Brunetti-Pierri's lab TIGEM - 1 Biosciences and Nutrition,Karolinska Institutet - 1 Biomedicum, University of Helsinki - 1 Biochimie Génétique et moléculaire,CHUGA - 1 Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona - 1 BioTalentum Ltd. - 1 Ahituv Lab,University of California San Francisco - 1 Abrahams Lab,Albert Einstein College of Medicine +column 19: gold_stars +168293 1 +42915 0 +23964 2 +7269 3 + 23 4 ================ -column 22: inheritance_modes - 162162 - 54586 Autosomal dominant inheritance - 27072 Autosomal recessive inheritance - 3018 X-linked inheritance - 1287 Somatic mutation - 979 Sporadic - 709 X-linked recessive inheritance - 626 X-linked dominant inheritance - 399 Mitochondrial inheritance - 169 Autosomal unknown - 141 Other - 99 Codominant - 47 Sex-limited autosomal dominant +column 22: all_pmids +83994 +14927 25741868 +13607 23788249 +8897 24033266 +8527 23788249,25394175 +7447 25394175 +6529 15604628,17392385,17508274,19305347,20065170,20301425,23188549,23788249,23918944,24366376,24366402,24432435,24493721,25356965,25394175,27854360 +3134 11598466,15604628,20301390,23408351,23535968,23788249,24310308,24493721,25003300,25070057,25356965,25452455,25645574,25711197,27854360 +2470 23757202 +2013 18414213 +1973 24728327 +1736 23788249,24033266 +1692 20301486 +1495 24033266,25741868 +1474 20301301 +1424 12692171,15604628,17392385,17508274,18163131,19305347,20065170,20301425,23188549,23788249,23918944,24366376,24366402,24432435,24493721,25356965,27854360 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0,000031091,000048077,10923033,12692171,15604628,17392385,17508274,17924331,18163131,19305347,2,20065170,20301425,21990134,22144684,23188549,23788249,23918944,24366376,24366402,24432435,24493721,25356965,27854360,80357271 ================ -column 23: age_of_onset - 160590 - 22845 Infancy - 20029 All ages - 16586 Childhood - 8126 Adolescent - 7446 Adult - 7088 Antenatal - 6755 Neonatal - 1165 Neonatal/infancy - 15 Variable - 1 Adolescence / Young adulthood +column 23: inheritance_modes +158800 +56309 Autosomal dominant inheritance +27915 Autosomal recessive inheritance +3188 X-linked inheritance +1414 Somatic mutation +1024 Sporadic + 735 X-linked recessive inheritance + 663 X-linked dominant inheritance + 399 Mitochondrial inheritance + 167 Autosomal unknown + 148 Other + 102 Codominant + 47 Sex-limited autosomal dominant ================ -column 24: prevalence - 166387 - 30109 1-9 / 100 000 - 26505 <1 / 1 000 000 - 15204 1-9 / 1 000 000 - 7951 Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. - 6191 1-5 / 10 000 - 2168 http://www.ncbi.nlm.nih.gov/books/NBK1247/ - 1230 1:3200 - 1230 1 in 2000-4000 depending on the population studied. - 998 Prevalence in Finland is at least 9:100,000 individuals. - 677 2.29 to 3.2 per 100,000 individuals - 530 1:3,000 - 508 >1 / 1000 - 396 The precise incidence and prevalence of CCD, considered to be the most frequently occurring congenital myopathy, are unknown. - 338 Rett syndrome is an X linked condition that occurs in 1 in 10,000 to 1 in 15,000 live births. - 318 MmD is thought to be rare. Actual prevalence figures are unknown. - 278 Cornelia de Lange syndrome occurs in 1 in 10-100,000 live births. - 278 CdLS occurs in 1 in 10-100,000 live births. - 263 ~1:10,000 but HHT is suspected to be under-diagnosed due to variability in clinical symptoms - 263 1:10,000 - 260 CHARGE syndrome occurs in at least one in 10,000 births. - 260 CHARGE syndrome is an autosomal dominant condition that occurs in 1 in 12,000 live births. - 231 Hennekam et al [1990b] reported a birth prevalence of 1:100,000 to 1:125,000 for RSTS in the Netherlands. - 228 Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. - 225 1 per million - 213 Sotos syndrome occurs in 1 in 14,000 live births. - 213 Sotos syndrome is an autosomal dominant condition that occurs in 1 in 14,000 live births. - 199 1 in 5,000 male live births - 187 < 1 / 1 000 000 - 186 The prevalence of MEN 2 has been estimated at 1:35,000 [DeLellis et al 2004]. - 186 1/35000 - 180 The estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births - 176 The prevalence of AS is one in 12,000-20,000 population. - 176 The prevalence of AS is one in 12,000-20,000 population - 167 1:15,000 - 167 1/15 000 - 165 Occurs in 1 in approximately 32,000 live births - 165 KMS is an autosomal dominant condition that occurs in 1 in approximately 32,000 live births - 156 The prevalence of the G20210A in the general population is estimated to be 2.0%. The prevalence of the G20210A substitution varies by ethnicity. It is most common in Europeans. the incidence is approximately 3.0% in southern Europeans, and 1.7% in northern Europeans. G20210A appears to be very rare in individuals of Asian and African descent. - 156 20210G>A heterozygosity occurs in 1.7%-3% of the general US and European populations: in the US, the prevalence of 20210G>A heterozygosity is 2%-5% in whites and 0%-0.3% in African Americans: among adults with VTE, 20210G>A heterozygosity is present in 6%-14% of those with a first VTE, and 18%-21% of those with a personal or family history of recurrent VTE: the prevalence of 20210G>A homozygosity is approximately one in 10,000. Double heterozygosity for the 20210G>A and factor V Leiden alleles occurs in approximately one in 1000 individuals in the general population and 2%-4.5% of persons with VTE - 156 1: 30,000 - 154 XLMTM is an X-linked condition that occurs in 1 in 50,000 male live births. Less than 20% of these cases are due to de novo mutations. Recurrence risk for a carrier female is 50%. All daughters of affected males are obligate carriers and at risk for having affected sons. Germline mosaicism has been observed. - 154 XLMTM is an X-linked condition that occurs in 1 in 50,000 male live births - 154 6-9 / 10 000 - 153 1 in every 600-1500 pregnancies in Western Countries - 153 1 in every 600-1000 pregnancies in Western Countries - 144 Pitt-Hopkins syndrome is a severe congenital encephalopathy that occurs in approximately 1 in 40,000 individuals - 138 The mutation in heterozygous form was also found in approximately 3.5% of the normal population. - 138 Heterozygosity for factor V Leiden occurs in 3%-8% of the general US and European populations: the mutation is extremely rare in Asian, African, and indigenous Australian populations. The factor V Leiden mutation is present in approximately 15%-20% of individuals with a first DVT: and up to 50% of individuals with recurrent venous thromboembolism or an estrogen-related thrombosis. - 135 Rare - 63 per million - 132 HMSN/ACC has a high prevalence in the French Canadian population of the Saguenay-Lac-St-Jean region and Charlevoix County of northeastern Quebec. The overall incidence at birth is approximately 1 in 2000 live births and the carrier rate is approximately 1 in 23 in this specific population. - 132 HMSN/ACC has a high prevalence in the French Canadian population of the Saguenay-Lac-St-Jean region and Charlevoix County of northeastern Quebec. The overall incidence at birth is approximately 1 in 2000 live births and the carrier rate is approximately 1 in 23 in this specific population. - 132 21-25% in familial FTLD and 6% in sporadic FTLD in North Americans and Europeans - 132 1:2117 live births and carrier rate is 1:23 inhabitants in the French-Canadian population of the Saguenay and Lac-St-Jean regions of Quebec, Canada - 128 1/200,000 - 121 1 - 9 / 100 000 - 116 1:5 million - 112 Estimates range from 1:250,000 to 1:50,000. - 99 Classic lissencephaly is rare. Birth prevalence is estimated to range from 11.7 per million births to 40 per million births - 92 rare, unknown - 86 The incidence of Menkes disease and its variants is estimated at one in 100,000 births. - 86 1/20,000 births in general population - 86 1/20,000 births (in all ethnic groups) - 82 RBS is rare: no accurate estimates of prevalence have been published. Approximately 150 individuals of diverse racial and ethnic backgrounds have been reported. - 78 DFNB1 accounts for approximately 50% of congenital, severe-to-profound, autosomal recessive nonsyndromic hearing loss in the United States, France, Britain, and New Zealand/Australia [Denoyelle et al 1997, Green et al 1999]. Its approximate prevalence in the general population is 14:100,000, based on the following calculation: the incidence of congenital hereditary hearing impairment is 1:2000 neonates, of which 70% have nonsyndromic hearing loss. Seventy-five to 80% of cases of nonsyndromic hearing loss are autosomal recessive: of these, 50% result from GJB2 mutations. Thus, 5:10,000 x 0.7 x 0.8 x 0.5 = 14:100,000. - 78 Congenital deafness affects 1 in 1,000 births. - 78 Congenital deafness affects 1 in 1,000 births - 71 1:100,000 live births. Carrier frequency is estimated to be 1:150. - 70 Beta-thalassemia is one of the most common autosomal recessive disorders worldwide. 10% depending on the studied population - 69 1 in 25,000 live male births - 63 Many common variants - 63 BWS is a panethnic disorder with an estimated population incidence of 1 in 13 700. - 56 Of all forms of LGMD the prevalence ranges from one in 14,500 to one in 123,000. The estimated prevalence of primary sarcoglycanopathies is approximately one in 178,000 with a carrier frequency of sarcogycanopathy at 1:150. 30-50% of patients with Duchenne-like) muscular dystrophy have mutations on SGCA - 55 1 in 248,000 (combined Niemann-Pick A/B) - 51 Rare. 18% approximately of MODY patients have mutations in HNF1A. - 50 unknown, <1 per million - 50 11.8% of sporadic male patients suffer from an autosomal rather than an X-chromosomal mutation, most often LGMD2C or LGMD2D. Of all forms of LGMD the prevalence ranges from one in 14,500 to one in 123,000. The estimated prevalence of primary sarcoglycanopathies is approximately one in 178,000 with a carrier frequency of sarcogycanopathy at 1:150. - 47 1 in 200,000 - 45 The frequency of NBIA is estimated to be approximately 1-3/1,000,000 individuals. - 44 Rare. Populations with individuals described include northern and southern European, Lebanese/Middle eastern, Latino. Disease allele frequency appears highest in specific migrant Lebanese populations. - 42 DI-CMTB is a rare cause of CMT. Up to 3.4% of CMT is caused by a DNM2 mutation - 40 unknown - 38 2:100 000 in Finland, 0,26:100 000 in the North of England - 37 The prevalence of individuals homozygous for the variant p.Cys282Tyr is approximately 3:1000 to 5:1000, or 1:200 to 1:400 [Adams et al 2005]: - 37 Hereditary haemochromatosis which affects 1:400 individuals of Northern European decent, has a carrier rate in this population of 1:10 - 37 Based on rates of biochemical diagnosis of CDPX2 compared to Smith-Lemli-Opitz syndrome (incidence of 1 in 75-100,000 births) in one laboratory, the recognized incidence of CDPX2 is no more than one fifth the rate for Smith-Lemli-Opitz syndrome, or no greater than approximately one in 400,000 births. This number may be an underestimate because of individuals with milder features who may not be accurately diagnosed. - 37 2 to 3 per 1000. I varies according to the population studied. - 37 1:250 (Caucasians) - 37 1:200 to 1:500 for the C282Y variant - 35 1 in 1,846 live births (Saguenay-Lac Saint-Jean region of Québec) - 35 1 in 1,000-2,500 - 30 Prevalence is estimated to be 1-3 in 1,000,000 - 28 Unknown - 28 Prevalence of MCT8-specific thyroid hormone cell transporter deficiency remains unknown. However, the identification of more than 50 families in approximately five years suggests that the syndrome is more common than previously suggested. - 27 Rare. 4% approximately of MODY patients have mutations in HNF1A. - 27 1:30,000 in males and 1:125,000 in females - 27 1/100,000 - 26 Rare - 26 6-7:100,000. - 26 1/250,000 - 26 0.1 per 10,000 live births - 24 1:14,000 - 22 1 in 248,000 (in combination with Niemann-Pick A) - 19 MCPHA has been found primarily in the Old Order Amish who have ancestors in Lancaster County, Pennsylvania. At least 61 affected infants have been born to 33 nuclear families in the past 40 years. In this population, incidence is approximately one in 500 births. The report of Siu et al [2010] shows that the phenotype is not limited to the Old Order Amish population, although prevalence is difficult to estimate. - 19 1:50,000-100,000 births. - 18 Of all forms of LGMD the prevalence ranges from one in 14,500 to one in 123,000. The estimated prevalence of primary sarcoglycanopathies is approximately one in 178,000 with a carrier frequency of sarcogycanopathy at 1:150. - 18 Gastric cancer is the 4th most frequently diagnosed cancer and the 2nd leading cause of death from cancer, with an estimated 990000 new cases and 738000 deaths registered. - 18 3.2-7.6% - 17 5-8/1000 live births - 16 Bernard-Soulier syndrome is a rare autosomal recessive disorder, occurring in less than 1 in 1,000,000 live births in European, North American, and Japanese populations. The incidence may vary depending on ethnic origin. - 14 The incidence of Crigler-Najjar syndrome is estimated to be approximately one in a million live births - 14 The incidence of CN is estimated to be approximately one in a million live births - 14 Risk of 40%-80% for breast cancer 1:400 - 14 1–2% of the population of infertile, but otherwise healthy, males and up to 25% of those with obstructive azoospermia. Among CBAVD patients, 78% had at least one CFTR mutation, 46% having two and 28% only one. Moreover, the common heterozygous F508del/5T and F508del/R117H were observed in 17 and 4% of CBAVD cases respectively. - 14 1–2% of the population of infertile, but otherwise healthy, males and up to 25% of those with obstructive azoospermia - 13 Familial hyperinsulinism has been reported in virtually all major ethnic groups. Prevalence has been estimated at 1:50,000 in the European population, whereas consanguineous populations of central Finland and Saudi Arabia have disease prevalence of approximately 1:2,500. The apparent increased prevalence among Ashkenazi Jews has not been rigorously studied. - 12 CDPX1 is a rare, X-linked recessive condition, occurring in less than 1:1,000,000 live births. - 12 Alelle frequencies: CYP2C9*2- Caucasians 15%, Hispanics 7%, African-Americans 3%, Asians 3%: CYP2C9*3- Caucasians 6%, Hispanics 6%, African-Americans 2%, Asians 4%: VKORC1*2 (-1639G>A) - Caucasians 41%, Hispanics 44%, African-Americans 11%, Asians 90%. - 11 The overall prevalence of hereditary neuropathies is estimated at approximately 3:10,000 population. About 30% of these individuals (1:10,000) may have CMT2. The prevalence of the various subtypes of CMT2 is unknown - 11 CMT has a prevalence of 1 in 3,300, but mutations in DNM2 are a rare cause of CMT. - 9 A Dutch study reported a prevalence of 1:85,000 for lissencephaly type 1. However, the study presumably included individuals with non-DCX-related lissencephaly. - 7 1/300,000 births - 6 The prevalence of Joubert syndrome and related disorders has not been determined. Many authors use a range between 1:80,000 and 1:100,000, but this may represent an underestimate - 6 1.3 per 100,000 - 6 1 / 1 000 000 - 5 1:8,000 - 4 Primary microcephaly has an incidence of 1:30,000 to 1:250,000. - 3 Mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases. - 3 Bernard-Soulier syndrome is a rare autosomal recessive disorder, occurring in less than 1 in 1,000,000 live births in European, North American, and Japanese populations. The incidence may vary depending on ethnic origin. - 3 1 / 900 - 2 Currently, CMT4A is considered the most frequent of all autosomal recessive forms of CMT. Molecular genetic testing has shown that the following proportion of individuals with CMT have two disease-causing GDAP1 alleles: 1% - 15% individuals depending on the studied population - 1 males affected with fragile X syndrome: 1:2,564 to 1:6,250 females affected with fragile X syndrome: approximately one-half the males prevalence Unaffected female FMR1 carriers: 1:113 to 1:382 Females with FMR1-related POF: 1:7 (1:15 for the general population) - 1 males affected with fragile X syndrome: 16 to 25:100,000 females affected with fragile X syndrome: approximately one-half the males prevalence Unaffected female FMR1 carriers: 1:113 to 1:259 Females with FMR1-related POF: 4%-6% of all cases of 46,XX,POI FXTAS males: an estimated 2%-4% of men with adult-onset cerebellar ataxia who represent simplex cases have a premutation in FMR1. - 1 The prevalence is estimated to be one in 100,000 - 1 The overall prevalence of hereditary neuropathies is estimated at approximately 3:10,000 population. About 30% of these individuals (1:10,000) may have CMT2. The prevalence of the various subtypes of CMT2 is unknown. - 1 The JAK2 V617F is present in 95% to 98% of polycythemia vera, 50% to 60% of primary myelofibrosis, and 50% to 60% of essential thrombocythemia. It has also been described infrequently in other myeloid neoplasms, including chronic myelomonocytic leukemia and myelodysplastic syndrome. - 1 Estimates of the prevalence of DM1 range from approximately 1:100,000 in some areas of Japan to approximately 1:10,000 in Iceland, with an overall worldwide prevalence of approximately 1:20,000 - 1 2:100.000 - 1 2:100,000-4:100,000. The carrier frequency is 1:60-1:100. - 1 1:100,000 - 1 1/100,000 births +column 24: age_of_onset +156347 +23370 Infancy +21586 All ages +17581 Childhood +9243 Adolescent +7804 Adult +7195 Antenatal +6937 Neonatal +1196 Neonatal/infancy + 15 Variable + 3 Adolescence / Young adulthood ================ -column 25: disease_mechanism - 215817 - 25367 loss of function - 1417 gain of function - 801 Disease mechanisms vary by gene. - 181 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A. - 124 Affects gamma-sarcoglycan and also disrupts the integrity of the entire sarcoglycan complex. - 105 Other - 63 May be benign - 17 unknown - 1 Dominant Negative +column 25: prevalence +161838 +31858 1-9 / 100 000 +27702 <1 / 1 000 000 +15661 1-9 / 1 000 000 +7950 Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. +6813 1-5 / 10 000 +2930 http://www.ncbi.nlm.nih.gov/books/NBK1247/ +1235 1:3200 +1235 1 in 2000-4000 depending on the population studied. + 999 Prevalence in Finland is at least 9:100,000 individuals. + 787 2.29 to 3.2 per 100,000 individuals + 639 1:3,000 + 488 >1 / 1000 + 396 The precise incidence and prevalence of CCD, considered to be the most frequently occurring congenital myopathy, are unknown. + 364 Rett syndrome is an X linked condition that occurs in 1 in 10,000 to 1 in 15,000 live births. + 318 MmD is thought to be rare. Actual prevalence figures are unknown. + 278 Cornelia de Lange syndrome occurs in 1 in 10-100,000 live births. + 278 CdLS occurs in 1 in 10-100,000 live births. + 269 CHARGE syndrome occurs in at least one in 10,000 births. + 269 CHARGE syndrome is an autosomal dominant condition that occurs in 1 in 12,000 live births. + 264 ~1:10,000 but HHT is suspected to be under-diagnosed due to variability in clinical symptoms + 264 1:10,000 + 231 Hennekam et al [1990b] reported a birth prevalence of 1:100,000 to 1:125,000 for RSTS in the Netherlands. + 228 Wilson disease is an autosomal recessive disorder with a prevalence of 1/30,000, and a carrier frequency of 1/90. + 225 1 per million + 213 Sotos syndrome occurs in 1 in 14,000 live births. + 213 Sotos syndrome is an autosomal dominant condition that occurs in 1 in 14,000 live births. + 212 The prevalence of AS is one in 12,000-20,000 population. + 212 The prevalence of AS is one in 12,000-20,000 population + 211 The prevalence of MEN 2 has been estimated at 1:35,000 [DeLellis et al 2004]. + 211 1/35000 + 199 1 in 5,000 male live births + 187 < 1 / 1 000 000 + 180 The estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births + 168 1:15,000 + 168 1/15 000 + 167 6-9 / 10 000 + 165 Occurs in 1 in approximately 32,000 live births + 165 KMS is an autosomal dominant condition that occurs in 1 in approximately 32,000 live births + 159 1: 30,000 + 156 The prevalence of the G20210A in the general population is estimated to be 2.0%. The prevalence of the G20210A substitution varies by ethnicity. It is most common in Europeans. the incidence is approximately 3.0% in southern Europeans, and 1.7% in northern Europeans. G20210A appears to be very rare in individuals of Asian and African descent. + 156 20210G>A heterozygosity occurs in 1.7%-3% of the general US and European populations: in the US, the prevalence of 20210G>A heterozygosity is 2%-5% in whites and 0%-0.3% in African Americans: among adults with VTE, 20210G>A heterozygosity is present in 6%-14% of those with a first VTE, and 18%-21% of those with a personal or family history of recurrent VTE: the prevalence of 20210G>A homozygosity is approximately one in 10,000. Double heterozygosity for the 20210G>A and factor V Leiden alleles occurs in approximately one in 1000 individuals in the general population and 2%-4.5% of persons with VTE + 154 XLMTM is an X-linked condition that occurs in 1 in 50,000 male live births. Less than 20% of these cases are due to de novo mutations. Recurrence risk for a carrier female is 50%. All daughters of affected males are obligate carriers and at risk for having affected sons. Germline mosaicism has been observed. + 154 XLMTM is an X-linked condition that occurs in 1 in 50,000 male live births + 153 The common sporadic form of hydatidiform moles affects 1 in every 600-1500 pregnancies in Western Countries. Recurrent hydatidiform moles affect 1-9.4% of patients with a prior hydatidiform mole. + 153 1 in every 600-1500 pregnancies in Western Countries + 153 1 in every 600-1000 pregnancies in Western Countries + 144 Pitt-Hopkins syndrome is a severe congenital encephalopathy that occurs in approximately 1 in 40,000 individuals + 139 The mutation in heterozygous form was also found in approximately 3.5% of the normal population. + 139 Heterozygosity for factor V Leiden occurs in 3%-8% of the general US and European populations: the mutation is extremely rare in Asian, African, and indigenous Australian populations. The factor V Leiden mutation is present in approximately 15%-20% of individuals with a first DVT: and up to 50% of individuals with recurrent venous thromboembolism or an estrogen-related thrombosis. + 136 Rare - 63 per million + 132 HMSN/ACC has a high prevalence in the French Canadian population of the Saguenay-Lac-St-Jean region and Charlevoix County of northeastern Quebec. The overall incidence at birth is approximately 1 in 2000 live births and the carrier rate is approximately 1 in 23 in this specific population. + 132 HMSN/ACC has a high prevalence in the French Canadian population of the Saguenay-Lac-St-Jean region and Charlevoix County of northeastern Quebec. The overall incidence at birth is approximately 1 in 2000 live births and the carrier rate is approximately 1 in 23 in this specific population. + 132 21-25% in familial FTLD and 6% in sporadic FTLD in North Americans and Europeans + 132 1:2117 live births and carrier rate is 1:23 inhabitants in the French-Canadian population of the Saguenay and Lac-St-Jean regions of Quebec, Canada + 128 1/200,000 + 121 1 - 9 / 100 000 + 117 Estimates range from 1:250,000 to 1:50,000. + 116 1:5 million + 104 20-30% HER2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed HER2/neu gene amplification. + 99 Classic lissencephaly is rare. Birth prevalence is estimated to range from 11.7 per million births to 40 per million births + 92 rare, unknown + 91 Beta-thalassemia is one of the most common autosomal recessive disorders worldwide. 10% depending on the studied population + 86 The incidence of Menkes disease and its variants is estimated at one in 100,000 births. + 86 1/20,000 births in general population + 86 1/20,000 births (in all ethnic groups) + 83 BWS is a panethnic disorder with an estimated population incidence of 1 in 13 700. + 82 RBS is rare: no accurate estimates of prevalence have been published. Approximately 150 individuals of diverse racial and ethnic backgrounds have been reported. + 78 DFNB1 accounts for approximately 50% of congenital, severe-to-profound, autosomal recessive nonsyndromic hearing loss in the United States, France, Britain, and New Zealand/Australia [Denoyelle et al 1997, Green et al 1999]. Its approximate prevalence in the general population is 14:100,000, based on the following calculation: the incidence of congenital hereditary hearing impairment is 1:2000 neonates, of which 70% have nonsyndromic hearing loss. Seventy-five to 80% of cases of nonsyndromic hearing loss are autosomal recessive: of these, 50% result from GJB2 mutations. Thus, 5:10,000 x 0.7 x 0.8 x 0.5 = 14:100,000. + 78 Congenital deafness affects 1 in 1,000 births. + 78 Congenital deafness affects 1 in 1,000 births + 71 1:100,000 live births. Carrier frequency is estimated to be 1:150. + 69 1 in 25,000 live male births + 63 Many common variants + 56 Of all forms of LGMD the prevalence ranges from one in 14,500 to one in 123,000. The estimated prevalence of primary sarcoglycanopathies is approximately one in 178,000 with a carrier frequency of sarcogycanopathy at 1:150. 30-50% of patients with Duchenne-like) muscular dystrophy have mutations on SGCA + 56 11.8% of sporadic male patients suffer from an autosomal rather than an X-chromosomal mutation, most often LGMD2C or LGMD2D. Of all forms of LGMD the prevalence ranges from one in 14,500 to one in 123,000. The estimated prevalence of primary sarcoglycanopathies is approximately one in 178,000 with a carrier frequency of sarcogycanopathy at 1:150. + 55 1 in 248,000 (combined Niemann-Pick A/B) + 51 Rare. 18% approximately of MODY patients have mutations in HNF1A. + 50 unknown, <1 per million + 47 1 in 200,000 + 45 The frequency of NBIA is estimated to be approximately 1-3/1,000,000 individuals. + 44 Rare. Populations with individuals described include northern and southern European, Lebanese/Middle eastern, Latino. Disease allele frequency appears highest in specific migrant Lebanese populations. + 42 DI-CMTB is a rare cause of CMT. Up to 3.4% of CMT is caused by a DNM2 mutation + 41 The prevalence of individuals homozygous for the variant p.Cys282Tyr is approximately 3:1000 to 5:1000, or 1:200 to 1:400 [Adams et al 2005]: + 41 Hereditary haemochromatosis which affects 1:400 individuals of Northern European decent, has a carrier rate in this population of 1:10 + 41 2 to 3 per 1000. I varies according to the population studied. + 41 1:250 (Caucasians) + 41 1:200 to 1:500 for the C282Y variant + 40 unknown + 38 2:100 000 in Finland, 0,26:100 000 in the North of England + 37 Based on rates of biochemical diagnosis of CDPX2 compared to Smith-Lemli-Opitz syndrome (incidence of 1 in 75-100,000 births) in one laboratory, the recognized incidence of CDPX2 is no more than one fifth the rate for Smith-Lemli-Opitz syndrome, or no greater than approximately one in 400,000 births. This number may be an underestimate because of individuals with milder features who may not be accurately diagnosed. + 37 0.1 per 10,000 live births + 35 1 in 1,846 live births (Saguenay-Lac Saint-Jean region of Québec) + 35 1 in 1,000-2,500 + 30 Prevalence is estimated to be 1-3 in 1,000,000 + 28 Unknown + 28 Prevalence of MCT8-specific thyroid hormone cell transporter deficiency remains unknown. However, the identification of more than 50 families in approximately five years suggests that the syndrome is more common than previously suggested. + 28 1/100,000 + 27 Rare. 4% approximately of MODY patients have mutations in HNF1A. + 27 1:30,000 in males and 1:125,000 in females + 27 1/250,000 + 26 Rare + 26 6-7:100,000. + 24 1:14,000 + 22 1 in 248,000 (in combination with Niemann-Pick A) + 21 CMT has a prevalence of 1 in 3,300, but mutations in DNM2 are a rare cause of CMT. + 20 Gastric cancer is the 4th most frequently diagnosed cancer and the 2nd leading cause of death from cancer, with an estimated 990000 new cases and 738000 deaths registered. + 19 MCPHA has been found primarily in the Old Order Amish who have ancestors in Lancaster County, Pennsylvania. At least 61 affected infants have been born to 33 nuclear families in the past 40 years. In this population, incidence is approximately one in 500 births. The report of Siu et al [2010] shows that the phenotype is not limited to the Old Order Amish population, although prevalence is difficult to estimate. + 19 1:50,000-100,000 births. + 18 Of all forms of LGMD the prevalence ranges from one in 14,500 to one in 123,000. The estimated prevalence of primary sarcoglycanopathies is approximately one in 178,000 with a carrier frequency of sarcogycanopathy at 1:150. + 18 3.2-7.6% + 17 5-8/1000 live births + 16 Bernard-Soulier syndrome is a rare autosomal recessive disorder, occurring in less than 1 in 1,000,000 live births in European, North American, and Japanese populations. The incidence may vary depending on ethnic origin. + 15 1–2% of the population of infertile, but otherwise healthy, males and up to 25% of those with obstructive azoospermia. Among CBAVD patients, 78% had at least one CFTR mutation, 46% having two and 28% only one. Moreover, the common heterozygous F508del/5T and F508del/R117H were observed in 17 and 4% of CBAVD cases respectively. + 15 1–2% of the population of infertile, but otherwise healthy, males and up to 25% of those with obstructive azoospermia + 14 The incidence of Crigler-Najjar syndrome is estimated to be approximately one in a million live births + 14 The incidence of CN is estimated to be approximately one in a million live births + 14 Risk of 40%-80% for breast cancer 1:400 + 13 Familial hyperinsulinism has been reported in virtually all major ethnic groups. Prevalence has been estimated at 1:50,000 in the European population, whereas consanguineous populations of central Finland and Saudi Arabia have disease prevalence of approximately 1:2,500. The apparent increased prevalence among Ashkenazi Jews has not been rigorously studied. + 12 CDPX1 is a rare, X-linked recessive condition, occurring in less than 1:1,000,000 live births. + 12 Alelle frequencies: CYP2C9*2- Caucasians 15%, Hispanics 7%, African-Americans 3%, Asians 3%: CYP2C9*3- Caucasians 6%, Hispanics 6%, African-Americans 2%, Asians 4%: VKORC1*2 (-1639G>A) - Caucasians 41%, Hispanics 44%, African-Americans 11%, Asians 90%. + 11 The overall prevalence of hereditary neuropathies is estimated at approximately 3:10,000 population. About 30% of these individuals (1:10,000) may have CMT2. The prevalence of the various subtypes of CMT2 is unknown + 9 A Dutch study reported a prevalence of 1:85,000 for lissencephaly type 1. However, the study presumably included individuals with non-DCX-related lissencephaly. + 7 1/300,000 births + 6 The prevalence of Joubert syndrome and related disorders has not been determined. Many authors use a range between 1:80,000 and 1:100,000, but this may represent an underestimate + 6 1.3 per 100,000 + 6 1 / 1 000 000 + 5 1:8,000 + 4 Primary microcephaly has an incidence of 1:30,000 to 1:250,000. + 3 Mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases. + 3 Bernard-Soulier syndrome is a rare autosomal recessive disorder, occurring in less than 1 in 1,000,000 live births in European, North American, and Japanese populations. The incidence may vary depending on ethnic origin. + 3 1 / 900 + 2 Currently, CMT4A is considered the most frequent of all autosomal recessive forms of CMT. Molecular genetic testing has shown that the following proportion of individuals with CMT have two disease-causing GDAP1 alleles: 1% - 15% individuals depending on the studied population + 1 males affected with fragile X syndrome: 1:2,564 to 1:6,250 females affected with fragile X syndrome: approximately one-half the males prevalence Unaffected female FMR1 carriers: 1:113 to 1:382 Females with FMR1-related POF: 1:7 (1:15 for the general population) + 1 males affected with fragile X syndrome: 16 to 25:100,000 females affected with fragile X syndrome: approximately one-half the males prevalence Unaffected female FMR1 carriers: 1:113 to 1:259 Females with FMR1-related POF: 4%-6% of all cases of 46,XX,POI FXTAS males: an estimated 2%-4% of men with adult-onset cerebellar ataxia who represent simplex cases have a premutation in FMR1. + 1 The prevalence is estimated to be one in 100,000 + 1 The overall prevalence of hereditary neuropathies is estimated at approximately 3:10,000 population. About 30% of these individuals (1:10,000) may have CMT2. The prevalence of the various subtypes of CMT2 is unknown. + 1 The JAK2 V617F is present in 95% to 98% of polycythemia vera, 50% to 60% of primary myelofibrosis, and 50% to 60% of essential thrombocythemia. It has also been described infrequently in other myeloid neoplasms, including chronic myelomonocytic leukemia and myelodysplastic syndrome. + 1 Estimates of the prevalence of DM1 range from approximately 1:100,000 in some areas of Japan to approximately 1:10,000 in Iceland, with an overall worldwide prevalence of approximately 1:20,000 + 1 2:100.000 + 1 2:100,000-4:100,000. The carrier frequency is 1:60-1:100. + 1 1:100,000 + 1 1/100,000 births ================ -column 26: origin - 224930 germline - 13497 unknown - 11858 not provided - 1937 somatic - 1425 de novo - 536 inherited - 452 maternal - 271 paternal - 103 not applicable - 20 tested-inconclusive - 19 biparental - 6 uniparental - 1 not-reported - 1 +column 26: disease_mechanism +213549 +26431 loss of function +1548 gain of function + 831 Disease mechanisms vary by gene. + 183 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A. + 130 Affects gamma-sarcoglycan and also disrupts the integrity of the entire sarcoglycan complex. + 105 Other + 63 May be benign + 17 unknown + 1 Dominant Negative diff --git a/src/join_data.R b/src/join_data.R old mode 100644 new mode 100755 index 5c22587..cfa9583 --- a/src/join_data.R +++ b/src/join_data.R @@ -34,9 +34,9 @@ print(dim(txt_download)) colnames(txt_download) = gsub('\\.','_',tolower(colnames(txt_download))) colnames(txt_download) = replace(colnames(txt_download), 1, "allele_id") -desired_columns<-c('allele_id','clinicalsignificance','reviewstatus') +desired_columns<-c('allele_id','clinicalsignificance','reviewstatus','lastevaluated') txt_extract = subset(txt_download, assembly == 'GRCh37', select=desired_columns) -colnames(txt_extract)<-c('allele_id','clinical_significance','review_status') +colnames(txt_extract)<-c('allele_id','clinical_significance','review_status','last_evaluated') #drop the clinical_significance and review_status in clinvar_record.tsv #use the summary ones in variant_summary.txt xml_extract = subset(xml_raw,select=-c(clinical_significance,review_status)) @@ -71,7 +71,7 @@ combined$conflicted = as.integer(grepl('athogenic',combined$clinical_significanc combined$benign = as.integer(grepl('enign',combined$clinical_significance)) # re-order the columns -combined = combined[,c('chrom','pos','ref','alt','measureset_type','measureset_id','rcv','allele_id','symbol', 'hgvs_c','hgvs_p','molecular_consequence','clinical_significance', 'pathogenic', 'benign', 'conflicted', 'review_status', 'gold_stars','all_submitters','all_traits','all_pmids', 'inheritance_modes', 'age_of_onset','prevalence', 'disease_mechanism', 'origin', 'xrefs')] +combined = combined[,c('chrom','pos','ref','alt','measureset_type','measureset_id','rcv','allele_id','symbol', 'hgvs_c','hgvs_p','molecular_consequence','clinical_significance', 'pathogenic', 'benign', 'conflicted', 'review_status','last_evaluated', 'gold_stars','all_submitters','all_traits','all_pmids', 'inheritance_modes', 'age_of_onset','prevalence', 'disease_mechanism', 'origin', 'xrefs')] write.table(combined, output_table, sep='\t', row.names=F, col.names=T, quote=F) diff --git a/src/master.py b/src/master.py old mode 100644 new mode 100755 index 105a589..16186f6 --- a/src/master.py +++ b/src/master.py @@ -147,9 +147,9 @@ def download_if_changed(job_runner, local_path, ftp_host, ftp_path): # sort job.add(("cat " + - "<(zcat IN:%(tmp_dir)s/clinvar_table_normalized.%(fsuffix)s.tsv.gz | head -1) " # header row - "<(zcat IN:%(tmp_dir)s/clinvar_table_normalized.%(fsuffix)s.tsv.gz | tail -n +2 | egrep -v \"^[XYM]\" | sort -k1,1n -k2,2n -k3,3 -k4,4 ) " + # numerically sort chroms 1-22 - "<(zcat IN:%(tmp_dir)s/clinvar_table_normalized.%(fsuffix)s.tsv.gz | tail -n +2 | egrep \"^[XYM]\" | sort -k1,1 -k2,2n -k3,3 -k4,4 ) " + #sort chroms X,Y,M + "<(gunzip -c IN:%(tmp_dir)s/clinvar_table_normalized.%(fsuffix)s.tsv.gz | head -1) " # header row + "<(gunzip -c IN:%(tmp_dir)s/clinvar_table_normalized.%(fsuffix)s.tsv.gz | tail -n +2 | egrep -v \"^[XYM]\" | sort -k1,1n -k2,2n -k3,3 -k4,4 ) " + # numerically sort chroms 1-22 + "<(gunzip -c IN:%(tmp_dir)s/clinvar_table_normalized.%(fsuffix)s.tsv.gz | tail -n +2 | egrep \"^[XYM]\" | sort -k1,1 -k2,2n -k3,3 -k4,4 ) " + #sort chroms X,Y,M " | bgzip -c > OUT:%(tmp_dir)s/clinvar_allele_trait_pairs.%(fsuffix)s.tsv.gz") % locals()) # lexicogaraphically sort non-numerical chroms at end # tabix and copy to output dir @@ -167,9 +167,9 @@ def download_if_changed(job_runner, local_path, ftp_host, ftp_path): # sort again by genomic coordinates (because R's merge function doesn't preserve order) job.add(("cat " + - "<(zcat IN:%(tmp_dir)s/clinvar_alleles_combined.%(fsuffix)s.tsv.gz | head -1) " # header row - "<(zcat IN:%(tmp_dir)s/clinvar_alleles_combined.%(fsuffix)s.tsv.gz | tail -n +2 | egrep -v \"^[XYM]\" | sort -k1,1n -k2,2n -k3,3 -k4,4 ) " + # numerically sort chroms 1-22 - "<(zcat IN:%(tmp_dir)s/clinvar_alleles_combined.%(fsuffix)s.tsv.gz | tail -n +2 | egrep \"^[XYM]\" | sort -k1,1 -k2,2n -k3,3 -k4,4 ) " + #sort chroms X,Y,M + "<(gunzip -c IN:%(tmp_dir)s/clinvar_alleles_combined.%(fsuffix)s.tsv.gz | head -1) " # header row + "<(gunzip -c IN:%(tmp_dir)s/clinvar_alleles_combined.%(fsuffix)s.tsv.gz | tail -n +2 | egrep -v \"^[XYM]\" | sort -k1,1n -k2,2n -k3,3 -k4,4 ) " + # numerically sort chroms 1-22 + "<(gunzip -c IN:%(tmp_dir)s/clinvar_alleles_combined.%(fsuffix)s.tsv.gz | tail -n +2 | egrep \"^[XYM]\" | sort -k1,1 -k2,2n -k3,3 -k4,4 ) " + #sort chroms X,Y,M " | bgzip -c > OUT:%(tmp_dir)s/clinvar_alleles.%(fsuffix)s.tsv.gz") % locals()) # lexicogaraphically sort non-numerical chroms at end # tabix and copy to output dir diff --git a/src/parse_clinvar_xml.py b/src/parse_clinvar_xml.py index 1d0c65e..156d9f1 100644 --- a/src/parse_clinvar_xml.py +++ b/src/parse_clinvar_xml.py @@ -66,7 +66,8 @@ def parse_clinvar_tree(handle, dest=sys.stdout, multi=None, verbose=True, genome else: current_row['rcv']=rcv.attrib.get('Acc') - measureset = elem.findall(".//ReferenceClinVarAssertion/MeasureSet") + ReferenceClinVarAssertion=elem.findall(".//ReferenceClinVarAssertion") + measureset = ReferenceClinVarAssertion[0].findall(".//MeasureSet") #only the ones with just one measure set can be recorded if len(measureset) > 1: