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clinvar_alleles_example_750_rows.multi.b37.vcf
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clinvar_alleles_example_750_rows.multi.b37.vcf
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##fileformat=VCFv4.1
##source=clinvar
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##INFO=<ID=CLINICAL_SIGNIFICANCE,Number=1,Type=String,Description="CLINICAL_SIGNIFICANCE">
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##INFO=<ID=LIKELY_BENIGN,Number=1,Type=String,Description="LIKELY_BENIGN">
##INFO=<ID=BENIGN,Number=1,Type=String,Description="BENIGN">
##INFO=<ID=REVIEW_STATUS,Number=1,Type=String,Description="REVIEW_STATUS">
##INFO=<ID=REVIEW_STATUS_ORDERED,Number=1,Type=String,Description="REVIEW_STATUS_ORDERED">
##INFO=<ID=LAST_EVALUATED,Number=1,Type=String,Description="LAST_EVALUATED">
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##INFO=<ID=ALL_TRAITS,Number=1,Type=String,Description="ALL_TRAITS">
##INFO=<ID=ALL_PMIDS,Number=1,Type=String,Description="ALL_PMIDS">
##INFO=<ID=INHERITANCE_MODES,Number=1,Type=String,Description="INHERITANCE_MODES">
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##INFO=<ID=PREVALENCE,Number=1,Type=String,Description="PREVALENCE">
##INFO=<ID=DISEASE_MECHANISM,Number=1,Type=String,Description="DISEASE_MECHANISM">
##INFO=<ID=ORIGIN,Number=1,Type=String,Description="ORIGIN">
##INFO=<ID=XREFS,Number=1,Type=String,Description="XREFS">
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##reference=/Users/weisburd/hg19.fa
#CHROM POS ID REF ALT QUAL FILTER INFO
1 7869953 . C G . . START=7869953;STOP=7869953;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224889;RCV=RCV000210468;SCV=SCV000266565;ALLELE_ID=226735;SYMBOL=PER3;HGVS_C=NM_001289862.1:c.1243C>G;HGVS_P=NP_001276791.1:p.Pro415Ala;MOLECULAR_CONSEQUENCE=NM_001289862.1:c.1243C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Advanced_sleep_phase_syndrome..familial..3|ADVANCED_SLEEP_PHASE_SYNDROME..FAMILIAL..3_(1_family);ALL_PMIDS=26903630;ORIGIN=germline;XREFS=MedGen:C4225169|OMIM:616882|Orphanet:164736;DATES_ORDERED=2016-10-17
1 7869960 . A G . . START=7869960;STOP=7869960;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224889;RCV=RCV000210468;SCV=SCV000266565;ALLELE_ID=226734;SYMBOL=PER3;HGVS_C=NM_001289862.1:c.1250A>G;HGVS_P=NP_001276791.1:p.His417Arg;MOLECULAR_CONSEQUENCE=NM_001289862.1:c.1250A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Advanced_sleep_phase_syndrome..familial..3|ADVANCED_SLEEP_PHASE_SYNDROME..FAMILIAL..3_(1_family);ALL_PMIDS=26903630;ORIGIN=germline;XREFS=MedGen:C4225169|OMIM:616882|Orphanet:164736;DATES_ORDERED=2016-10-17
1 8045031 . G A . . START=8045031;STOP=8045031;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=60700;RCV=RCV000007484;SCV=SCV000027684;ALLELE_ID=22107;SYMBOL=PARK7;HGVS_C=NM_007262.4:c.487G>A;HGVS_P=NP_009193.2:p.Glu163Lys;MOLECULAR_CONSEQUENCE=NM_007262.4:c.487G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_08..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=16240358|20301402|23279440;ORIGIN=germline;XREFS=GeneReviews:NBK1223|Genetic_Alliance:Parkinson+disease+7/9090|MedGen:C1853445|OMIM:602533.0001|OMIM:602533.0002|OMIM:602533.0003|OMIM:602533.0004|OMIM:602533.0005|OMIM:602533.0006|OMIM:606324|Orphanet:2828;DATES_ORDERED=2012-10-08
1 25627552 . C G . . START=25627552;STOP=25627552;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166|208474;RCV=RCV000184007|RCV000190496;SCV=SCV000236501|SCV000245368;ALLELE_ID=198596;SYMBOL=RHD;HGVS_C=NM_016124.4:c.602C>G;HGVS_P=NP_057208.2:p.Thr201Arg;MOLECULAR_CONSEQUENCE=NM_016124.4:c.602C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25628043 . T G . . START=25628043;STOP=25628043;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166|208474;RCV=RCV000184007|RCV000190496;SCV=SCV000236501|SCV000245368;ALLELE_ID=198597;SYMBOL=RHD;HGVS_C=NM_016124.4:c.667T>G;HGVS_P=NP_057208.2:p.Phe223Val;MOLECULAR_CONSEQUENCE=NM_016124.4:c.667T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25628073 . G C . . START=25628073;STOP=25628073;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208474;RCV=RCV000190496;SCV=SCV000245368;ALLELE_ID=204995;SYMBOL=RHD;HGVS_C=NM_016124.4:c.697G>C;HGVS_P=NP_057208.2:p.Glu233Gln;MOLECULAR_CONSEQUENCE=NM_016124.4:c.697G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25628109 . G C . . START=25628109;STOP=25628109;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208474;RCV=RCV000190496;SCV=SCV000245368;ALLELE_ID=204996;SYMBOL=RHD;HGVS_C=NM_016124.4:c.733G>C;HGVS_P=NP_057208.2:p.Val245Leu;MOLECULAR_CONSEQUENCE=NM_016124.4:c.733G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25628120 . C T . . START=25628120;STOP=25628120;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166|208474;RCV=RCV000184007|RCV000190496;SCV=SCV000236501|SCV000245368;ALLELE_ID=198598;SYMBOL=RHD;HGVS_C=NM_016124.4:c.744C>T;HGVS_P=NP_057208.2:p.Ser248_eq_;MOLECULAR_CONSEQUENCE=NM_016124.4:c.744C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25633104 . G A . . START=25633104;STOP=25633104;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166;RCV=RCV000184007;SCV=SCV000236501;ALLELE_ID=198599;SYMBOL=RHD;HGVS_C=NM_016124.4:c.957G>A;HGVS_P=NP_057208.2:p.Val319_eq_;MOLECULAR_CONSEQUENCE=NM_001127691.2:c.939+3154G>A:intron_variant|NM_016124.4:c.957G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25633172 . T C . . START=25633172;STOP=25633172;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166;RCV=RCV000184007;SCV=SCV000236501;ALLELE_ID=198600;SYMBOL=RHD;HGVS_C=NM_001127691.2:c.939+3222T>C;HGVS_P=NP_057208.2:p.Ile342Thr;MOLECULAR_CONSEQUENCE=NM_001127691.2:c.939+3222T>C:intron_variant|NM_016124.4:c.1025T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25633210 . G A . . START=25633210;STOP=25633210;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166;RCV=RCV000184007;SCV=SCV000236501;ALLELE_ID=198601;SYMBOL=RHD;HGVS_C=NM_001127691.2:c.939+3260G>A;HGVS_P=NP_057208.2:p.Gly355Ser;MOLECULAR_CONSEQUENCE=NM_001127691.2:c.939+3260G>A:intron_variant|NM_016124.4:c.1063G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25701876 . C T . . START=25701876;STOP=25701876;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208474;RCV=RCV000190496;SCV=SCV000245368;ALLELE_ID=204997;SYMBOL=RHD;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00
1 25747230 . G C . . START=25747230;STOP=25747230;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17709;RCV=RCV000019283;SCV=SCV000039571;ALLELE_ID=32748;SYMBOL=RHCE;HGVS_C=NM_020485.5:c.48G_eq_;HGVS_P=NP_065231.3:p.Trp16_eq_;MOLECULAR_CONSEQUENCE=NM_020485.5:c.48G_eq_:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=RH_C/c_POLYMORPHISM|RH_C/c_POLYMORPHISM;ALL_PMIDS=8220426;ORIGIN=germline;XREFS=OMIM:111700.0002;DATES_ORDERED=1993-09-01
1 53676401 . T G . . START=53676401;STOP=53676401;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=30118;RCV=RCV000023026;SCV=SCV000044317;ALLELE_ID=39073;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1055T>G;HGVS_P=NP_000089.1:p.Phe352Cys;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1055T>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_07..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Encephalopathy..acute..infection-induced..4..susceptibility_to|ENCEPHALOPATHY..ACUTE..INFECTION-INDUCED..SUSCEPTIBILITY_TO..4;ALL_PMIDS=15811315|18306170|20934285|21697855;ORIGIN=germline;XREFS=Genetic_Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308|MedGen:C3280160|OMIM:614212|Orphanet:263524;DATES_ORDERED=2011-08-01
1 53676448 . G A . . START=53676448;STOP=53676448;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=30118;RCV=RCV000023026;SCV=SCV000044317;ALLELE_ID=39074;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1102G>A;HGVS_P=NP_000089.1:p.Val368Ile;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1102G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Encephalopathy..acute..infection-induced..4..susceptibility_to|ENCEPHALOPATHY..ACUTE..INFECTION-INDUCED..SUSCEPTIBILITY_TO..4;ALL_PMIDS=15811315|18306170|20934285|21697855;ORIGIN=germline;XREFS=Genetic_Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308|MedGen:C3280160|OMIM:614212|Orphanet:263524;DATES_ORDERED=2011-08-01
1 53676583 . CAG C . . START=53676585;STOP=53676586;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=60702;RCV=RCV000202553;SCV=SCV000153666;ALLELE_ID=98339;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1239_1240delGA;HGVS_P=NP_000089.1:p.Lys414Thrfs;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1239_1240delGA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Carnitine_palmitoyltransferase_II_deficiency|Carnitine_palmitoyltransferase_II_deficiency;ALL_PMIDS=10090476|20301431|25173338;ORIGIN=germline;XREFS=GeneReviews:NBK1253|MedGen:C0342790|Office_of_Rare_Diseases:1121|SNOMED_CT:238002005;DATES_ORDERED=2014-05-15
1 53676688 . T C . . START=53676688;STOP=53676688;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=60702;RCV=RCV000202553;SCV=SCV000153666;ALLELE_ID=23999;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1342T>C;HGVS_P=NP_000089.1:p.Phe448Leu;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1342T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Carnitine_palmitoyltransferase_II_deficiency|Carnitine_palmitoyltransferase_II_deficiency;ALL_PMIDS=10090476|20301431|25173338;ORIGIN=germline;XREFS=GeneReviews:NBK1253|MedGen:C0342790|Office_of_Rare_Diseases:1121|SNOMED_CT:238002005;DATES_ORDERED=2014-05-15
1 55331078 . C G . . START=55331078;STOP=55331078;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4368;RCV=RCV000004616;SCV=SCV000024790;ALLELE_ID=38433;SYMBOL=DHCR24;HGVS_C=NM_014762.3:c.918G>C;HGVS_P=NP_055577.1:p.Lys306Asn;MOLECULAR_CONSEQUENCE=NM_014762.3:c.918G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2001;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Desmosterolosis|DESMOSTEROLOSIS;ALL_PMIDS=11519011;ORIGIN=germline;XREFS=GeneTests:238860|Genetic_Alliance:Desmosterolosis/2221|MedGen:C1865596|OMIM:602398|Office_of_Rare_Diseases:10283|Orphanet:35107;DATES_ORDERED=2001-10-01
1 55331115 . T G . . START=55331115;STOP=55331115;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4368;RCV=RCV000004616;SCV=SCV000024790;ALLELE_ID=19407;SYMBOL=DHCR24;HGVS_C=NM_014762.3:c.881A>C;HGVS_P=NP_055577.1:p.Asn294Thr;MOLECULAR_CONSEQUENCE=NM_014762.3:c.881A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2001;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Desmosterolosis|DESMOSTEROLOSIS;ALL_PMIDS=11519011;ORIGIN=germline;XREFS=GeneTests:238860|Genetic_Alliance:Desmosterolosis/2221|MedGen:C1865596|OMIM:602398|Office_of_Rare_Diseases:10283|Orphanet:35107;DATES_ORDERED=2001-10-01
1 94467548 . C G . . START=94467548;STOP=94467548;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236131;RCV=RCV000408516;SCV=SCV000281924;ALLELE_ID=22923;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.6148G>C;HGVS_P=NP_000341.2:p.Val2050Leu;MOLECULAR_CONSEQUENCE=NM_000350.2:c.6148G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_17..2017;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01
1 94471055 . C T . . START=94471055;STOP=94471055;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236068;RCV=RCV000408532;SCV=SCV000281790;ALLELE_ID=105317;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.6089G>A;HGVS_P=NP_000341.2:p.Arg2030Gln;MOLECULAR_CONSEQUENCE=NM_000350.2:c.6089G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_02..2017;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01
1 94480178 . G T . . START=94480178;STOP=94480178;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236131;RCV=RCV000408516;SCV=SCV000281924;ALLELE_ID=105260;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.5381C>A;HGVS_P=NP_000341.2:p.Ala1794Asp;MOLECULAR_CONSEQUENCE=NM_000350.2:c.5381C>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01
1 94485181 . A C . . START=94485181;STOP=94485181;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236092;RCV=RCV000408474;SCV=SCV000281849;ALLELE_ID=237656;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.5153T>G;HGVS_P=NP_000341.2:p.Val1718Gly;MOLECULAR_CONSEQUENCE=NM_000350.2:c.5153T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01
1 94492973 . G A . . START=94492973;STOP=94492973;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225694;RCV=RCV000211040;SCV=SCV000267675;ALLELE_ID=227509;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.4539+2028C>T;MOLECULAR_CONSEQUENCE=NM_000350.2:c.4539+2028C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=0000-00-00
1 94508356 . T A . . START=94508356;STOP=94508356;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236091;RCV=RCV000408579;SCV=SCV000281848;ALLELE_ID=237681;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.3289A>T;HGVS_P=NP_000341.2:p.Arg1097Ter;MOLECULAR_CONSEQUENCE=NM_000350.2:c.3289A>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01
1 94508969 . G A . . START=94508969;STOP=94508969;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=7901;RCV=RCV000008358|RCV000008359;SCV=SCV000028566|SCV000028567;ALLELE_ID=22933;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.3113C>T;HGVS_P=NP_000341.2:p.Ala1038Val;MOLECULAR_CONSEQUENCE=NM_000350.2:c.3113C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_21..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Stargardt_disease_1|STARGARDT_DISEASE_1|Cone-rod_dystrophy_3;ALL_PMIDS=10958761|10958763|12796258|16103129|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827|Genetic_Alliance:Cone-Rod+Dystrophy+3/1769|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1858806|OMIM:604116|Office_of_Rare_Diseases:10653|Orphanet:1872;DATES_ORDERED=2005-10-01
1 94517254 . C G . . START=94517254;STOP=94517254;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236091|236092;RCV=RCV000408579|RCV000408474;SCV=SCV000281848|SCV000281849;ALLELE_ID=22918;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.2588G>C;HGVS_P=NP_000341.2:p.Gly863Ala;MOLECULAR_CONSEQUENCE=NM_000350.2:c.2588G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_24..2017;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01
1 94528806 . A G . . START=94528806;STOP=94528806;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=7901;RCV=RCV000008358|RCV000008359;SCV=SCV000028566|SCV000028567;ALLELE_ID=22940;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.1622T>C;HGVS_P=NP_000341.2:p.Leu541Pro;MOLECULAR_CONSEQUENCE=NM_000350.2:c.1622T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_12..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Stargardt_disease_1|STARGARDT_DISEASE_1|Cone-rod_dystrophy_3;ALL_PMIDS=10958761|10958763|12796258|16103129|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827|Genetic_Alliance:Cone-Rod+Dystrophy+3/1769|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1858806|OMIM:604116|Office_of_Rare_Diseases:10653|Orphanet:1872;DATES_ORDERED=2005-10-01
1 94576926 . G A . . START=94576926;STOP=94576926;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225694;RCV=RCV000211040;SCV=SCV000267675;ALLELE_ID=227508;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.302+68C>T;MOLECULAR_CONSEQUENCE=NM_000350.2:c.302+68C>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=0000-00-00
1 94586601 . T C . . START=94586601;STOP=94586601;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236068;RCV=RCV000408532;SCV=SCV000281790;ALLELE_ID=104999;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.1A>G;HGVS_P=NP_000341.2:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_000350.2:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01
1 116269619 . T C . . START=116269619;STOP=116269619;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=228471;RCV=RCV000217394;SCV=SCV000271536;ALLELE_ID=44436;SYMBOL=CASQ2;HGVS_C=NM_001232.3:c.731A>G;HGVS_P=NP_001223.2:p.His244Arg;MOLECULAR_CONSEQUENCE=NM_001232.3:c.731A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-05
1 116269620 . G A . . START=116269620;STOP=116269620;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=228471;RCV=RCV000217394;SCV=SCV000271536;ALLELE_ID=228262;SYMBOL=CASQ2;HGVS_C=NM_001232.3:c.730C>T;HGVS_P=NP_001223.2:p.His244Tyr;MOLECULAR_CONSEQUENCE=NM_001232.3:c.730C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_10..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-05
1 155204994 . C G . . START=155204994;STOP=155204994;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;SCV=SCV000024707|SCV000024708|SCV000024709|SCV000024710;ALLELE_ID=38385;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1497G>C;HGVS_P=NP_001005741.1:p.Val499_eq_;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1497G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=4;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_04..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=10685993|1437405|1594045|18197057|1899336|1972019|19888064|20301446|7857677|8118460|8929950;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:77261|SNOMED_CT:5963005|Genetic_Alliance:Gaucher+Disease+Perinatal+Lethal/3001|MedGen:C1842704|OMIM:608013;DATES_ORDERED=2000-03-01
1 155205008 . C G . . START=155205008;STOP=155205008;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;SCV=SCV000024707|SCV000024708|SCV000024709|SCV000024710;ALLELE_ID=38384;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1483G>C;HGVS_P=NP_001005741.1:p.Ala495Pro;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1483G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=4;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_24..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=10685993|1437405|1594045|18197057|1899336|1972019|19888064|20301446|7857677|8118460|8929950;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:77261|SNOMED_CT:5963005|Genetic_Alliance:Gaucher+Disease+Perinatal+Lethal/3001|MedGen:C1842704|OMIM:608013;DATES_ORDERED=2000-03-01
1 155205043 . A G . . START=155205043;STOP=155205043;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;SCV=SCV000024707|SCV000024708|SCV000024709|SCV000024710;ALLELE_ID=19327;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1448T>C;HGVS_P=NP_001005741.1:p.Leu483Pro;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1448T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=4;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=10685993|1437405|1594045|18197057|1899336|1972019|19888064|20301446|7857677|8118460|8929950;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:77261|SNOMED_CT:5963005|Genetic_Alliance:Gaucher+Disease+Perinatal+Lethal/3001|MedGen:C1842704|OMIM:608013;DATES_ORDERED=2000-03-01
1 155205518 . C G . . START=155205518;STOP=155205518;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4334;RCV=RCV000004580|RCV000004581;SCV=SCV000024754|SCV000024755;ALLELE_ID=19332;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1342G>C;HGVS_P=NP_001005741.1:p.Asp448His;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1342G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Acute_neuronopathic_Gaucher's_disease|GAUCHER_DISEASE..TYPE_II|Subacute_neuronopathic_Gaucher's_disease;ALL_PMIDS=15690354|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:355|Orphanet:77261|SNOMED_CT:5963005;DATES_ORDERED=2005-04-01
1 155206167 . C T . . START=155206167;STOP=155206167;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4299;RCV=RCV000004538;SCV=SCV000024712;ALLELE_ID=38432;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1093G>A;HGVS_P=NP_001005741.1:p.Glu365Lys;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1093G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_28..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I;ALL_PMIDS=10079102|11903352|15146461|18197057|1864608|19888064|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009;DATES_ORDERED=2004-06-01
1 155207249 . A C . . START=155207249;STOP=155207249;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4334;RCV=RCV000004580|RCV000004581;SCV=SCV000024754|SCV000024755;ALLELE_ID=19373;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.882T>G;HGVS_P=NP_001005741.1:p.His294Gln;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.882T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Acute_neuronopathic_Gaucher's_disease|GAUCHER_DISEASE..TYPE_II|Subacute_neuronopathic_Gaucher's_disease;ALL_PMIDS=15690354|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:355|Orphanet:77261|SNOMED_CT:5963005;DATES_ORDERED=2005-04-01
1 155208361 . C G . . START=155208361;STOP=155208361;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4299;RCV=RCV000004538;SCV=SCV000024712;ALLELE_ID=19338;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.535G>C;HGVS_P=NP_001005741.1:p.Asp179His;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.535G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_28..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I;ALL_PMIDS=10079102|11903352|15146461|18197057|1864608|19888064|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009;DATES_ORDERED=2004-06-01
1 156830751 . C T . . START=156830751;STOP=156830751;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12304;RCV=RCV000030667;SCV=SCV000033344;ALLELE_ID=27343;SYMBOL=NTRK1;HGVS_C=NM_002529.3:c.25C>T;HGVS_P=NP_002520.2:p.Gln9Ter;MOLECULAR_CONSEQUENCE=NM_001007792.1:c.123-3395C>T:intron_variant|NM_001012331.1:c.25C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_05..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344|11159935|20301726;ORIGIN=germline;XREFS=GeneReviews:NBK1769|Genetic_Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832|MedGen:C0020074|OMIM:256800|Office_of_Rare_Diseases:3006|Orphanet:642|SNOMED_CT:62985007;DATES_ORDERED=2001-02-01
1 156848918 . C T . . START=156848918;STOP=156848918;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12304;RCV=RCV000030667;SCV=SCV000033344;ALLELE_ID=38397;SYMBOL=NTRK1;HGVS_C=NM_002529.3:c.1810C>T;HGVS_P=NP_002520.2:p.His604Tyr;MOLECULAR_CONSEQUENCE=NM_001007792.1:c.1702C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344|11159935|20301726;ORIGIN=germline;XREFS=GeneReviews:NBK1769|Genetic_Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832|MedGen:C0020074|OMIM:256800|Office_of_Rare_Diseases:3006|Orphanet:642|SNOMED_CT:62985007;DATES_ORDERED=2001-02-01
1 156848946 . G T . . START=156848946;STOP=156848946;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12304;RCV=RCV000030667;SCV=SCV000033344;ALLELE_ID=27347;SYMBOL=NTRK1;HGVS_C=NM_002529.3:c.1838G>T;HGVS_P=NP_002520.2:p.Gly613Val;MOLECULAR_CONSEQUENCE=NM_001007792.1:c.1730G>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344|11159935|20301726;ORIGIN=germline;XREFS=GeneReviews:NBK1769|Genetic_Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832|MedGen:C0020074|OMIM:256800|Office_of_Rare_Diseases:3006|Orphanet:642|SNOMED_CT:62985007;DATES_ORDERED=2001-02-01
1 161276217 . G C . . START=161276217;STOP=161276217;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14182;RCV=RCV000015246;SCV=SCV000035505;ALLELE_ID=38403;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.486C>G;HGVS_P=NP_000521.2:p.Ile162Met;MOLECULAR_CONSEQUENCE=NM_000530.7:c.486C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2I|CHARCOT-MARIE-TOOTH_DISEASE..TYPE_2I;ALL_PMIDS=11835375|20301462|9222756;ORIGIN=germline;XREFS=GeneReviews:NBK1285|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300|MedGen:C1843251|OMIM:607677|Office_of_Rare_Diseases:9197|Orphanet:99942;DATES_ORDERED=2002-02-01
1 161276564 . C T . . START=161276564;STOP=161276564;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14180;RCV=RCV000015243;SCV=SCV000035502;ALLELE_ID=38402;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.382G>A;HGVS_P=NP_000521.2:p.Asp128Asn;MOLECULAR_CONSEQUENCE=NM_000530.7:c.382G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dejerine-sottas_syndrome..sporadic|DEJERINE-SOTTAS_SYNDROME..SPORADIC;ALL_PMIDS=9222756;ORIGIN=germline;XREFS=MedGen:C4016265;DATES_ORDERED=1997-01-01
1 161276600 . T G . . START=161276600;STOP=161276600;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14180;RCV=RCV000015243;SCV=SCV000035502;ALLELE_ID=38401;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.346A>C;HGVS_P=NP_000521.2:p.Asn116His;MOLECULAR_CONSEQUENCE=NM_000530.7:c.346A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dejerine-sottas_syndrome..sporadic|DEJERINE-SOTTAS_SYNDROME..SPORADIC;ALL_PMIDS=9222756;ORIGIN=germline;XREFS=MedGen:C4016265;DATES_ORDERED=1997-01-01
1 161276605 . A G . . START=161276605;STOP=161276605;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14180;RCV=RCV000015243;SCV=SCV000035502;ALLELE_ID=29219;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.341T>C;HGVS_P=NP_000521.2:p.Ile114Thr;MOLECULAR_CONSEQUENCE=NM_000530.7:c.341T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dejerine-sottas_syndrome..sporadic|DEJERINE-SOTTAS_SYNDROME..SPORADIC;ALL_PMIDS=9222756;ORIGIN=germline;XREFS=MedGen:C4016265;DATES_ORDERED=1997-01-01
1 161276609 . C A . . START=161276609;STOP=161276609;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208147;RCV=RCV000194363;SCV=SCV000243903;ALLELE_ID=49442;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.337G>T;HGVS_P=NP_000521.2:p.Val113Phe;MOLECULAR_CONSEQUENCE=NM_000530.7:c.337G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_26..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Charcot-Marie-Tooth_disease..demyelinating..type_1b|Charcot-Marie-Tooth_disease..type_IB;ALL_PMIDS=20301384;ORIGIN=germline;XREFS=GeneReviews:NBK1205|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285|MedGen:C0270912|OMIM:118200|Office_of_Rare_Diseases:1246|Orphanet:101082|SNOMED_CT:42986003;DATES_ORDERED=2015-03-26
1 161276672 . C T . . START=161276672;STOP=161276672;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14182;RCV=RCV000015246;SCV=SCV000035505;ALLELE_ID=38404;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.274G>A;HGVS_P=NP_000521.2:p.Val92Met;MOLECULAR_CONSEQUENCE=NM_000530.7:c.274G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2I|CHARCOT-MARIE-TOOTH_DISEASE..TYPE_2I;ALL_PMIDS=11835375|20301462|9222756;ORIGIN=germline;XREFS=GeneReviews:NBK1285|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300|MedGen:C1843251|OMIM:607677|Office_of_Rare_Diseases:9197|Orphanet:99942;DATES_ORDERED=2002-02-01
1 161276680 . A T . . START=161276680;STOP=161276680;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14182;RCV=RCV000015246;SCV=SCV000035505;ALLELE_ID=29221;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.266T>A;HGVS_P=NP_000521.2:p.Ile89Asn;MOLECULAR_CONSEQUENCE=NM_000530.7:c.266T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2I|CHARCOT-MARIE-TOOTH_DISEASE..TYPE_2I;ALL_PMIDS=11835375|20301462|9222756;ORIGIN=germline;XREFS=GeneReviews:NBK1285|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300|MedGen:C1843251|OMIM:607677|Office_of_Rare_Diseases:9197|Orphanet:99942;DATES_ORDERED=2002-02-01
1 161276705 . G A . . START=161276705;STOP=161276705;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208147;RCV=RCV000194363;SCV=SCV000243903;ALLELE_ID=49438;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.241C>T;HGVS_P=NP_000521.2:p.His81Tyr;MOLECULAR_CONSEQUENCE=NM_000530.7:c.241C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_26..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Charcot-Marie-Tooth_disease..demyelinating..type_1b|Charcot-Marie-Tooth_disease..type_IB;ALL_PMIDS=20301384;ORIGIN=germline;XREFS=GeneReviews:NBK1205|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285|MedGen:C0270912|OMIM:118200|Office_of_Rare_Diseases:1246|Orphanet:101082|SNOMED_CT:42986003;DATES_ORDERED=2015-03-26
1 161599693 . T C . . START=161599693;STOP=161599693;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=36924;RCV=RCV000030607;SCV=SCV000053285;ALLELE_ID=45587;SYMBOL=FCGR3B;HGVS_C=NM_000570.4:c.194A>G;HGVS_P=NP_000561.3:p.Asn65Ser;MOLECULAR_CONSEQUENCE=NM_000570.4:c.194A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..1989;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Neutrophil-specific_antigens_na1/na2|NEUTROPHIL-SPECIFIC_ANTIGENS_NA1/NA2;ALL_PMIDS=2478590;ORIGIN=germline;XREFS=MedGen:C4017227;DATES_ORDERED=1989-11-01
1 171076966 . G A . . START=171076966;STOP=171076966;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16318|217371;RCV=RCV000017711|RCV000201276|RCV000201278;SCV=SCV000037988|SCV000256060|SCV000256061;ALLELE_ID=38476;SYMBOL=FMO3;HGVS_C=NM_006894.5:c.472G>A;HGVS_P=NP_008825.4:p.Glu158Lys;MOLECULAR_CONSEQUENCE=NM_001002294.2:c.472G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Trimethylaminuria..mild|TRIMETHYLAMINURIA..MILD|Trimethylaminuria;ALL_PMIDS=10485731|10896299|11809920|20301282|22126753|19321370;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=MedGen:C4016101|GeneReviews:NBK1103|Genetic_Alliance:Trimethylaminuria/7223|Genetic_Testing_Registry_(GTR):GTR000505067|Genetic_Testing_Registry_(GTR):GTR000518973|Genetic_Testing_Registry_(GTR):GTR000520120|MedGen:C0342739|OMIM:602079|Office_of_Rare_Diseases:6447|SNOMED_CT:237959005;DATES_ORDERED=1999-09-04|2015-10-01
1 171077295 . T C . . START=171077295;STOP=171077295;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217371;RCV=RCV000201278;SCV=SCV000256061;ALLELE_ID=214011;SYMBOL=FMO3;HGVS_C=NM_006894.5:c.560T>C;HGVS_P=NP_008825.4:p.Val187Ala;MOLECULAR_CONSEQUENCE=NM_001002294.2:c.560T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Trimethylaminuria;ALL_PMIDS=19321370|20301282|22126753;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1103|Genetic_Alliance:Trimethylaminuria/7223|Genetic_Testing_Registry_(GTR):GTR000505067|Genetic_Testing_Registry_(GTR):GTR000518973|Genetic_Testing_Registry_(GTR):GTR000520120|MedGen:C0342739|OMIM:602079|Office_of_Rare_Diseases:6447|SNOMED_CT:237959005;DATES_ORDERED=2015-10-01
1 171083242 . A G . . START=171083242;STOP=171083242;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16318;RCV=RCV000017711|RCV000201276;SCV=SCV000037988|SCV000256060;ALLELE_ID=31357;SYMBOL=FMO3;HGVS_C=NM_006894.5:c.923A>G;HGVS_P=NP_008825.4:p.Glu308Gly;MOLECULAR_CONSEQUENCE=NM_001002294.2:c.923A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Trimethylaminuria..mild|TRIMETHYLAMINURIA..MILD|Trimethylaminuria;ALL_PMIDS=10485731|10896299|11809920|20301282|22126753;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=MedGen:C4016101|GeneReviews:NBK1103|Genetic_Alliance:Trimethylaminuria/7223|Genetic_Testing_Registry_(GTR):GTR000505067|Genetic_Testing_Registry_(GTR):GTR000518973|Genetic_Testing_Registry_(GTR):GTR000520120|MedGen:C0342739|OMIM:602079|Office_of_Rare_Diseases:6447|SNOMED_CT:237959005;DATES_ORDERED=1999-09-04|2015-10-01
1 179545050 . C A . . START=179545050;STOP=179545050;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225143;RCV=RCV000210779;SCV=SCV000266491;ALLELE_ID=227036;SYMBOL=NPHS2;HGVS_C=NM_014625.3:c.-51G>T;MOLECULAR_CONSEQUENCE=NM_014625.3:c.-51G>T:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;SUBMITTERS_ORDERED=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;ALL_TRAITS=Nephrotic_syndrome..idiopathic..steroid-resistant;ORIGIN=unknown;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149|MedGen:C1868672|OMIM:600995|Office_of_Rare_Diseases:3946|Orphanet:656;DATES_ORDERED=2016-01-01
1 179545051 . G C . . START=179545051;STOP=179545051;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225143;RCV=RCV000210779;SCV=SCV000266491;ALLELE_ID=227037;SYMBOL=NPHS2;HGVS_C=NM_014625.3:c.-52C>G;MOLECULAR_CONSEQUENCE=NM_014625.3:c.-52C>G:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;SUBMITTERS_ORDERED=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;ALL_TRAITS=Nephrotic_syndrome..idiopathic..steroid-resistant;ORIGIN=unknown;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149|MedGen:C1868672|OMIM:600995|Office_of_Rare_Diseases:3946|Orphanet:656;DATES_ORDERED=2016-01-01
1 183543642 . T C . . START=183543642;STOP=183543642;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2240;RCV=RCV000002328;SCV=SCV000022486;ALLELE_ID=38423;SYMBOL=NCF2;HGVS_C=NM_000433.3:c.481A>G;HGVS_P=NP_000424.2:p.Lys161Glu;MOLECULAR_CONSEQUENCE=NM_000433.3:c.481A>G:missense_variant|NM_001190789.1:c.366+3092A>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_24..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granulomatous_disease..autosomal_recessive_cytochrome_b-positive..type_2|GRANULOMATOUS_DISEASE..CHRONIC..AUTOSOMAL_RECESSIVE..CYTOCHROME_b-POSITIVE..TYPE_II;ALL_PMIDS=22876374|9070911;ORIGIN=germline;XREFS=GeneReviews:NBK99496|Genetic_Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977|MedGen:C1856245|OMIM:233710|Orphanet:379;DATES_ORDERED=1997-02-24
1 183543644 . T A . . START=183543644;STOP=183543644;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2240;RCV=RCV000002328;SCV=SCV000022486;ALLELE_ID=17279;SYMBOL=NCF2;HGVS_C=NM_000433.3:c.479A>T;HGVS_P=NP_000424.2:p.Asp160Val;MOLECULAR_CONSEQUENCE=NM_000433.3:c.479A>T:missense_variant|NM_001190789.1:c.366+3090A>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_24..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granulomatous_disease..autosomal_recessive_cytochrome_b-positive..type_2|GRANULOMATOUS_DISEASE..CHRONIC..AUTOSOMAL_RECESSIVE..CYTOCHROME_b-POSITIVE..TYPE_II;ALL_PMIDS=22876374|9070911;ORIGIN=germline;XREFS=GeneReviews:NBK99496|Genetic_Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977|MedGen:C1856245|OMIM:233710|Orphanet:379;DATES_ORDERED=1997-02-24
1 209880216 . C CA . . START=209880218;STOP=209880218;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=8911;RCV=RCV000009466;SCV=SCV000029684;ALLELE_ID=23950;SYMBOL=HSD11B1;HGVS_C=NM_181755.2:c.331+53_331+54insA;MOLECULAR_CONSEQUENCE=NM_181755.2:c.331+53_331+54insA:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_2|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=12858176|15827106|16091483|16817821|17062770;ORIGIN=germline;XREFS=Genetic_Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103|MedGen:C3553382|OMIM:614662|Orphanet:168588;DATES_ORDERED=2007-01-01
1 209880259 . T G . . START=209880259;STOP=209880259;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=8911;RCV=RCV000009466;SCV=SCV000029684;ALLELE_ID=76328;SYMBOL=HSD11B1;HGVS_C=NM_181755.2:c.332-29T>G;MOLECULAR_CONSEQUENCE=NM_181755.2:c.332-29T>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_2|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=12858176|15827106|16091483|16817821|17062770;ORIGIN=germline;XREFS=Genetic_Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103|MedGen:C3553382|OMIM:614662|Orphanet:168588;DATES_ORDERED=2007-01-01
1 211093297 . C G . . START=211093297;STOP=211093297;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=203434;RCV=RCV000185594;SCV=SCV000238503;ALLELE_ID=181518;SYMBOL=KCNH1;HGVS_C=NM_172362.2:c.1147G>C;HGVS_P=NP_758872.1:p.Val383Leu;MOLECULAR_CONSEQUENCE=NM_172362.2:c.1147G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Zimmermann-Laband_syndrome_1|ZIMMERMANN-LABAND_SYNDROME_1;ALL_PMIDS=18541964|25915598;ORIGIN=germline;XREFS=Gene:353173|Genetic_Alliance:Laband+syndrome/4062|MedGen:CN032818|OMIM:135500|Orphanet:3473;DATES_ORDERED=2015-06-01
1 211093389 . G T . . START=211093389;STOP=211093389;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=203434;RCV=RCV000185594;SCV=SCV000238503;ALLELE_ID=181521;SYMBOL=KCNH1;HGVS_C=NM_002238.3:c.974C>A;HGVS_P=NP_758872.1:p.Ser352Tyr;MOLECULAR_CONSEQUENCE=NM_172362.2:c.1055C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Zimmermann-Laband_syndrome_1|ZIMMERMANN-LABAND_SYNDROME_1;ALL_PMIDS=18541964|25915598;ORIGIN=germline;XREFS=Gene:353173|Genetic_Alliance:Laband+syndrome/4062|MedGen:CN032818|OMIM:135500|Orphanet:3473;DATES_ORDERED=2015-06-01
1 227170697 . C T . . START=227170697;STOP=227170697;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217876;RCV=RCV000201953;SCV=SCV000256872;ALLELE_ID=214530;SYMBOL=COQ8A;HGVS_C=NM_020247.4:c.1042C>T;HGVS_P=NP_064632.2:p.Arg348Ter;MOLECULAR_CONSEQUENCE=NM_020247.4:c.1042C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_23..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Coenzyme_Q10_deficiency..primary..4;ALL_PMIDS=18319072|20580948|28125198;ORIGIN=germline;XREFS=GeneReviews:NBK410087|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342|MedGen:C2677589|OMIM:612016|Orphanet:139485;DATES_ORDERED=2014-06-16
1 227173033 . G A . . START=227173033;STOP=227173033;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217876;RCV=RCV000201953;SCV=SCV000256872;ALLELE_ID=18675;SYMBOL=COQ8A;HGVS_C=NM_020247.4:c.1651G>A;HGVS_P=NP_064632.2:p.Glu551Lys;MOLECULAR_CONSEQUENCE=NM_020247.4:c.1651G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_11..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Coenzyme_Q10_deficiency..primary..4;ALL_PMIDS=18319072|20580948|28125198;ORIGIN=germline;XREFS=GeneReviews:NBK410087|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342|MedGen:C2677589|OMIM:612016|Orphanet:139485;DATES_ORDERED=2014-06-16
1 229568534 . G A . . START=229568534;STOP=229568534;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=18293;RCV=RCV000019955;SCV=SCV000040253;ALLELE_ID=38498;SYMBOL=ACTA1;HGVS_C=NM_001100.3:c.223C>T;HGVS_P=NP_001091.1:p.His75Tyr;MOLECULAR_CONSEQUENCE=NM_001100.3:c.223C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nemaline_myopathy_3|NEMALINE_MYOPATHY_3;ALL_PMIDS=19553116|20301465|22510848;ORIGIN=germline;XREFS=GeneReviews:NBK1288|Genetic_Alliance:Nemaline+myopathy+3/5125|MedGen:C1834336|OMIM:161800|Office_of_Rare_Diseases:10111;DATES_ORDERED=2009-07-01
1 229568535 . C A . . START=229568535;STOP=229568535;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=18293;RCV=RCV000019955;SCV=SCV000040253;ALLELE_ID=33332;SYMBOL=ACTA1;HGVS_C=NM_001100.3:c.222G>T;HGVS_P=NP_001091.1:p.Glu74Asp;MOLECULAR_CONSEQUENCE=NM_001100.3:c.222G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nemaline_myopathy_3|NEMALINE_MYOPATHY_3;ALL_PMIDS=19553116|20301465|22510848;ORIGIN=germline;XREFS=GeneReviews:NBK1288|Genetic_Alliance:Nemaline+myopathy+3/5125|MedGen:C1834336|OMIM:161800|Office_of_Rare_Diseases:10111;DATES_ORDERED=2009-07-01
2 47273468 . A G . . START=47273468;STOP=47273468;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190388;RCV=RCV000170526;SCV=SCV000223091;ALLELE_ID=188215;SYMBOL=TTC7A;HGVS_C=NM_020458.3:c.1817A>G;HGVS_P=NP_065191.2:p.Lys606Arg;MOLECULAR_CONSEQUENCE=NM_001288953.1:c.1715A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_25..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_gastrointestinal_atresias|GASTROINTESTINAL_DEFECTS_AND_IMMUNODEFICIENCY_SYNDROME;ALL_PMIDS=23830146;ORIGIN=germline;XREFS=MedGen:C0220744|OMIM:243150|OMIM:609332.0001|OMIM:609332.0002|OMIM:609332.0003|OMIM:609332.0004|OMIM:609332.0005|OMIM:609332.0006|OMIM:609332.0007|OMIM:609332.0008|OMIM:609332.0009|OMIM:609332.0010|OMIM:609332.0011|OMIM:609332.0012|OMIM:609332.0013|OMIM:609332.0014|OMIM:609332.0015|Office_of_Rare_Diseases:3013|Orphanet:2300|Orphanet:436252|SNOMED_CT:95472001;DATES_ORDERED=2013-09-01
2 47277182 . T C . . START=47277182;STOP=47277182;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190388;RCV=RCV000170526;SCV=SCV000223091;ALLELE_ID=188216;SYMBOL=TTC7A;HGVS_C=NM_020458.3:c.2014T>C;HGVS_P=NP_065191.2:p.Ser672Pro;MOLECULAR_CONSEQUENCE=NM_001288953.1:c.1912T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_25..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_gastrointestinal_atresias|GASTROINTESTINAL_DEFECTS_AND_IMMUNODEFICIENCY_SYNDROME;ALL_PMIDS=23830146;ORIGIN=germline;XREFS=MedGen:C0220744|OMIM:243150|OMIM:609332.0001|OMIM:609332.0002|OMIM:609332.0003|OMIM:609332.0004|OMIM:609332.0005|OMIM:609332.0006|OMIM:609332.0007|OMIM:609332.0008|OMIM:609332.0009|OMIM:609332.0010|OMIM:609332.0011|OMIM:609332.0012|OMIM:609332.0013|OMIM:609332.0014|OMIM:609332.0015|Office_of_Rare_Diseases:3013|Orphanet:2300|Orphanet:436252|SNOMED_CT:95472001;DATES_ORDERED=2013-09-01
2 74692046 . C T . . START=74692046;STOP=74692046;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375688;RCV=RCV000114957;SCV=SCV000148867;ALLELE_ID=214379;SYMBOL=MOGS;HGVS_C=NM_006302.2:c.329G>A;HGVS_P=NP_006293.2:p.Arg110His;MOLECULAR_CONSEQUENCE=NM_006302.2:c.329G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Congenital_disorder_of_glycosylation_type_2B|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIb;ALL_PMIDS=20301507|24716661;ORIGIN=germline;XREFS=Genetic_Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057|MedGen:C1853736|OMIM:606056|Office_of_Rare_Diseases:10767|Orphanet:79330;DATES_ORDERED=2014-04-24
2 74692310 . G T . . START=74692310;STOP=74692310;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375688;RCV=RCV000114957;SCV=SCV000148867;ALLELE_ID=132608;SYMBOL=MOGS;HGVS_C=NM_006302.2:c.65C>A;HGVS_P=NP_006293.2:p.Ala22Glu;MOLECULAR_CONSEQUENCE=NM_001146158.1:c.-59+131C>A:intron_variant|NM_006302.2:c.65C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_24..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Congenital_disorder_of_glycosylation_type_2B|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIb;ALL_PMIDS=20301507|24716661;ORIGIN=germline;XREFS=Genetic_Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057|MedGen:C1853736|OMIM:606056|Office_of_Rare_Diseases:10767|Orphanet:79330;DATES_ORDERED=2014-04-24
2 86444224 . T C . . START=86444224;STOP=86444224;STRAND=-;VARIATION_TYPE=Distinct_chromosomes;VARIATION_ID=157528;RCV=RCV000144873;SCV=SCV000172145;ALLELE_ID=167389;SYMBOL=REEP1;HGVS_C=NM_001164730.1:c.626A>G;HGVS_P=NP_001158202.1:p.Ter209Trp;MOLECULAR_CONSEQUENCE=NM_001164730.1:c.626A>G:stop_lost|NM_001164732.1:c.370A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2013;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|spasticity|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01
2 128412067 . G A . . START=128412067;STOP=128412067;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=222901;RCV=RCV000208555;SCV=SCV000264322;ALLELE_ID=224616;SYMBOL=LIMS2;HGVS_C=NM_001161404.1:c.275C>T;HGVS_P=NP_001154876.1:p.Pro92Leu;MOLECULAR_CONSEQUENCE=NM_001161404.1:c.275C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Muscular_dystrophy..limb-girdle..type_2W|MUSCULAR_DYSTROPHY..LIMB-GIRDLE..TYPE_2W_(1_family);ALL_PMIDS=25589244;ORIGIN=germline;XREFS=MedGen:C4225192|OMIM:616827;DATES_ORDERED=2016-08-12
2 128412081 . G C . . START=128412081;STOP=128412081;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=222901;RCV=RCV000208555;SCV=SCV000264322;ALLELE_ID=224615;SYMBOL=LIMS2;HGVS_C=NM_001136037.2:c.342C>G;HGVS_P=NP_001154876.1:p.Asn87Lys;MOLECULAR_CONSEQUENCE=NM_001161404.1:c.261C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Muscular_dystrophy..limb-girdle..type_2W|MUSCULAR_DYSTROPHY..LIMB-GIRDLE..TYPE_2W_(1_family);ALL_PMIDS=25589244;ORIGIN=germline;XREFS=MedGen:C4225192|OMIM:616827;DATES_ORDERED=2016-08-12
2 179395322 . AC A . . START=179395323;STOP=179395323;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=178839;RCV=RCV000155611;SCV=SCV000205319;ALLELE_ID=172806;SYMBOL=TTN;HGVS_C=NM_133378.4:c.98315delG;HGVS_P=NP_001254479.2:p.Gly35340Valfs;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.106019delG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_27..2013;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Autosomal_recessive_centronuclear_myopathy;ALL_PMIDS=22617344|23975875|24033266;ORIGIN=germline;XREFS=Genetic_Alliance:Autosomal+recessive+centronuclear+myopathy/7787|Genetics_Home_Reference:centronuclear-myopathy|MedGen:C0410204|OMIM:255200|Orphanet:169186|Orphanet:ORPHA169186|SNOMED_CT:240081004;DATES_ORDERED=2013-09-27
2 179434462 . ATGTT A . . START=179434463;STOP=179434466;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=178839;RCV=RCV000155611;SCV=SCV000205319;ALLELE_ID=172708;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.76393_76396delAACA;HGVS_P=NP_001254479.2:p.Asn25465Terfs;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.76393_76396delAACA:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_27..2013;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Autosomal_recessive_centronuclear_myopathy;ALL_PMIDS=22617344|23975875|24033266;ORIGIN=germline;XREFS=Genetic_Alliance:Autosomal+recessive+centronuclear+myopathy/7787|Genetics_Home_Reference:centronuclear-myopathy|MedGen:C0410204|OMIM:255200|Orphanet:169186|Orphanet:ORPHA169186|SNOMED_CT:240081004;DATES_ORDERED=2013-09-27
2 179472292 . T A . . START=179472292;STOP=179472292;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=179465;RCV=RCV000156254;SCV=SCV000205970;ALLELE_ID=56237;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.53123A>T;HGVS_P=NP_597676.3:p.Lys8768Ile;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.53123A>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04
2 179472293 . T C . . START=179472293;STOP=179472293;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=179465;RCV=RCV000156254;SCV=SCV000205970;ALLELE_ID=173874;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.53122A>G;HGVS_P=NP_001254479.2:p.Lys17708Glu;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.53122A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04
2 189861915 . C T . . START=189861915;STOP=189861915;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=101229;RCV=RCV000087466;SCV=SCV000120353;ALLELE_ID=106974;SYMBOL=COL3A1;HGVS_C=NM_000090.3:c.1786C>T;HGVS_P=NP_000081.1:p.Arg596Ter;MOLECULAR_CONSEQUENCE=NM_000090.3:c.1786C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_19..2017;ALL_SUBMITTERS=Collagen_Diagnostic_Laboratory;SUBMITTERS_ORDERED=Collagen_Diagnostic_Laboratory;ALL_TRAITS=Ehlers-Danlos_syndrome..type_4|Ehlers-Danlos_syndrome..type_4;ALL_PMIDS=20301667|23788249|24882528|25173340|25355838|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1494|Genetic_Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491|MedGen:C0268338|OMIM:130050|Orphanet:286|SNOMED_CT:17025000;DATES_ORDERED=0000-00-00
2 189874931 . G A . . START=189874931;STOP=189874931;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=101229;RCV=RCV000087466;SCV=SCV000120353;ALLELE_ID=106975;SYMBOL=COL3A1;HGVS_C=NM_000090.3:c.3851G>A;HGVS_P=NP_000081.1:p.Gly1284Glu;MOLECULAR_CONSEQUENCE=NM_000090.3:c.3851G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Collagen_Diagnostic_Laboratory;SUBMITTERS_ORDERED=Collagen_Diagnostic_Laboratory;ALL_TRAITS=Ehlers-Danlos_syndrome..type_4|Ehlers-Danlos_syndrome..type_4;ALL_PMIDS=20301667|23788249|24882528|25173340|25355838|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1494|Genetic_Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491|MedGen:C0268338|OMIM:130050|Orphanet:286|SNOMED_CT:17025000;DATES_ORDERED=0000-00-00
2 201436518 . CAG C . . START=201436522;STOP=201436523;VARIATION_TYPE=Haplotype;VARIATION_ID=375673;RCV=RCV000417144;SCV=SCV000494729;ALLELE_ID=362513;SYMBOL=CLDN14;HGVS_C=NM_152524.5:c.1453_1454delGA;HGVS_P=NP_689737.4:p.Glu485Lysfs;MOLECULAR_CONSEQUENCE=NM_152524.5:c.1453_1454delGA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_30..2016;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;ALL_TRAITS=Perrault_Syndrome|Deafness|Primary_ovarian_insufficiency|Perrault_Syndrome;ORIGIN=germline;XREFS=Illumina_Clinical_Services_Laboratory..Illumina:37522|MedGen:CN239459;DATES_ORDERED=2016-08-30
2 202574623 . G A . . START=202574623;STOP=202574623;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217879;RCV=RCV000201952;SCV=SCV000256875;ALLELE_ID=214531;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.4261C>T;HGVS_P=NP_065970.2:p.Arg1421Ter;MOLECULAR_CONSEQUENCE=NM_020919.3:c.4261C>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis;ALL_PMIDS=12919135|18394004|20301421;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819|Genetic_Testing_Registry_(GTR):GTR000249543|Genetic_Testing_Registry_(GTR):GTR000514976|Genetic_Testing_Registry_(GTR):GTR000528540|MedGen:C1846588|OMIM:607225|Office_of_Rare_Diseases:4914|Orphanet:293168;DATES_ORDERED=2014-07-14
2 202588048 . C G . . START=202588048;STOP=202588048;STRAND=-;VARIATION_TYPE=CompoundHeterozygote;VARIATION_ID=42162;RCV=RCV000034989;SCV=SCV000058622;ALLELE_ID=205072;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.3624+5G>C;MOLECULAR_CONSEQUENCE=NM_020919.3:c.3624+5G>C:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_2|ALS2-Related_Disorders;ALL_PMIDS=20018642|20301421|20301623;ORIGIN=not_provided;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Amyotrophic+Lateral+Sclerosis+Type+2/404|MedGen:C1859807|OMIM:205100|OMIM:606352.0001|OMIM:606352.0011|OMIM:606352.0016|OMIM:606352.0017|Office_of_Rare_Diseases:9470|Orphanet:300605;DATES_ORDERED=2011-02-10
2 202588111 . AC A . . START=202588112;STOP=202588112;STRAND=-;VARIATION_TYPE=CompoundHeterozygote;VARIATION_ID=42162;RCV=RCV000034989;SCV=SCV000058622;ALLELE_ID=51328;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.3565delG;HGVS_P=NP_065970.2:p.Val1189Trpfs;MOLECULAR_CONSEQUENCE=NM_020919.3:c.3565delG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_2|ALS2-Related_Disorders;ALL_PMIDS=20018642|20301421|20301623;ORIGIN=not_provided;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Amyotrophic+Lateral+Sclerosis+Type+2/404|MedGen:C1859807|OMIM:205100|OMIM:606352.0001|OMIM:606352.0011|OMIM:606352.0016|OMIM:606352.0017|Office_of_Rare_Diseases:9470|Orphanet:300605;DATES_ORDERED=2011-02-10
2 202588148 . C A . . START=202588148;STOP=202588148;STRAND=-;VARIATION_TYPE=CompoundHeterozygote;VARIATION_ID=42138;RCV=RCV000034965;SCV=SCV000058589;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis|ALS2-Related_Disorders;ALL_PMIDS=18394004|20301421;DISEASE_MECHANISM=loss_of_function;ORIGIN=not_provided;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819|Genetic_Testing_Registry_(GTR):GTR000249543|Genetic_Testing_Registry_(GTR):GTR000514976|Genetic_Testing_Registry_(GTR):GTR000528540|MedGen:C1846588|OMIM:607225|Office_of_Rare_Diseases:4914|Orphanet:293168;DATES_ORDERED=2011-02-10
2 202611376 . G T . . START=202611376;STOP=202611376;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217879;RCV=RCV000201952;SCV=SCV000256875;ALLELE_ID=214532;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.1911C>A;HGVS_P=NP_065970.2:p.Tyr637Ter;MOLECULAR_CONSEQUENCE=NM_020919.3:c.1911C>A:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis;ALL_PMIDS=12919135|18394004|20301421;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819|Genetic_Testing_Registry_(GTR):GTR000249543|Genetic_Testing_Registry_(GTR):GTR000514976|Genetic_Testing_Registry_(GTR):GTR000528540|MedGen:C1846588|OMIM:607225|Office_of_Rare_Diseases:4914|Orphanet:293168;DATES_ORDERED=2014-07-14
2 202611461 . T TCACTG . . START=202611462;STOP=202611466;STRAND=-;VARIATION_TYPE=CompoundHeterozygote;VARIATION_ID=42138;RCV=RCV000034965;SCV=SCV000058589;ALLELE_ID=51304;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.1821_1825dupCAGTG;HGVS_P=NP_065970.2:p.Glu609Alafs;MOLECULAR_CONSEQUENCE=NM_020919.3:c.1821_1825dupCAGTG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis|ALS2-Related_Disorders;ALL_PMIDS=18394004|20301421;DISEASE_MECHANISM=loss_of_function;ORIGIN=not_provided;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819|Genetic_Testing_Registry_(GTR):GTR000249543|Genetic_Testing_Registry_(GTR):GTR000514976|Genetic_Testing_Registry_(GTR):GTR000528540|MedGen:C1846588|OMIM:607225|Office_of_Rare_Diseases:4914|Orphanet:293168;DATES_ORDERED=2011-02-10
2 228137806 . G A . . START=228137806;STOP=228137806;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=397582;RCV=RCV000449541;SCV=SCV000537787;ALLELE_ID=384474;SYMBOL=COL4A3;HGVS_C=NM_000091.4:c.1900G>A;HGVS_P=NP_000082.2:p.Gly634Arg;MOLECULAR_CONSEQUENCE=NM_000091.4:c.1900G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386|22166944;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919;DATES_ORDERED=0000-00-00
2 228137833 . G A . . START=228137833;STOP=228137833;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=397582;RCV=RCV000449541;SCV=SCV000537787;ALLELE_ID=285718;SYMBOL=COL4A3;HGVS_C=NM_000091.4:c.1927G>A;HGVS_P=NP_000082.2:p.Gly643Ser;MOLECULAR_CONSEQUENCE=NM_000091.4:c.1927G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386|22166944;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919;DATES_ORDERED=0000-00-00
2 233348866 . G A . . START=233348866;STOP=233348866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235817;RCV=RCV000224367;SCV=SCV000281670;ALLELE_ID=48091;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1252C>T;HGVS_P=NP_004817.2:p.Arg418Cys;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1252C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08
2 233348866 . G T . . START=233348866;STOP=233348866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235818;RCV=RCV000224716;SCV=SCV000281671;ALLELE_ID=48089;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1252C>A;HGVS_P=NP_004817.2:p.Arg418Ser;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1252C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08
2 233349179 . T A . . START=233349179;STOP=233349179;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235818;RCV=RCV000224716;SCV=SCV000281671;ALLELE_ID=48090;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1184+3A>T;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1184+3A>T:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08
2 233349788 . T C . . START=233349788;STOP=233349788;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235820;RCV=RCV000224404;SCV=SCV000281673;ALLELE_ID=237475;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.869A>G;HGVS_P=NP_004817.2:p.Tyr290Cys;MOLECULAR_CONSEQUENCE=NM_004826.3:c.869A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08
2 233349963 . CCCAT AGC . . START=233349963;STOP=233349967;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235820;RCV=RCV000224404;SCV=SCV000281673;ALLELE_ID=237476;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.797_801delATGGGinsGCT;HGVS_P=NP_004817.2:p.Asp266Glyfs;MOLECULAR_CONSEQUENCE=NM_004826.3:c.797_801delATGGGinsGCT:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08
2 233350647 . G GT . . START=233350648;STOP=233350648;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235821;RCV=RCV000224209;SCV=SCV000281675;ALLELE_ID=48087;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.716dupA;HGVS_P=NP_004817.2:p.Tyr239Terfs;MOLECULAR_CONSEQUENCE=NM_004826.3:c.716dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08
2 233350774 . C T . . START=233350774;STOP=233350774;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235817;RCV=RCV000224367;SCV=SCV000281670;ALLELE_ID=48092;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.590G>A;HGVS_P=NP_004817.2:p.Gly197Asp;MOLECULAR_CONSEQUENCE=NM_004826.3:c.590G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08
2 233351008 . CTGGCGTCCAGGT C . . START=233351009;STOP=233351020;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235821;RCV=RCV000224209;SCV=SCV000281675;ALLELE_ID=48088;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.344_355delACCTGGACGCCA;HGVS_P=NP_004817.2:p.Asn115_Ala118del;MOLECULAR_CONSEQUENCE=NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08
2 241808719 . T TTCCTGGTTG . . START=241808720;STOP=241808728;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204181;RCV=RCV000186388;SCV=SCV000239738;ALLELE_ID=200465;SYMBOL=AGXT;HGVS_C=NM_000030.2:c.299_307dupTCCTGGTTG;HGVS_P=NP_000021.1:p.Val102_Gly103insValLeuVal;MOLECULAR_CONSEQUENCE=NM_000030.2:c.299_307dupTCCTGGTTG:inframe_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=17460142|20301460|22547750;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1283|Genetic_Alliance:Primary+hyperoxaluria+type+1/5947|Genetic_Testing_Registry_(GTR):GTR000118454|Genetic_Testing_Registry_(GTR):GTR000507681|Genetic_Testing_Registry_(GTR):GTR000514623|Genetic_Testing_Registry_(GTR):GTR000515735|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000521390|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001;DATES_ORDERED=2014-11-27
2 241808729 . G A . . START=241808729;STOP=241808729;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204181;RCV=RCV000186388;SCV=SCV000239738;ALLELE_ID=200466;SYMBOL=AGXT;HGVS_C=NM_000030.2:c.308G>A;HGVS_P=NP_000021.1:p.Gly103Glu;MOLECULAR_CONSEQUENCE=NM_000030.2:c.308G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=17460142|20301460|22547750;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1283|Genetic_Alliance:Primary+hyperoxaluria+type+1/5947|Genetic_Testing_Registry_(GTR):GTR000118454|Genetic_Testing_Registry_(GTR):GTR000507681|Genetic_Testing_Registry_(GTR):GTR000514623|Genetic_Testing_Registry_(GTR):GTR000515735|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000521390|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001;DATES_ORDERED=2014-11-27
2 241815403 . G GA . . START=241815404;STOP=241815405;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204202;RCV=RCV000186409;SCV=SCV000239759;ALLELE_ID=200559;SYMBOL=AGXT;HGVS_C=NM_000030.2:c.829_830insA;HGVS_P=NP_000021.1:p.Ala277Aspfs;MOLECULAR_CONSEQUENCE=NM_000030.2:c.829_830insA:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=20301460|22547750;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1283|Genetic_Alliance:Primary+hyperoxaluria+type+1/5947|Genetic_Testing_Registry_(GTR):GTR000118454|Genetic_Testing_Registry_(GTR):GTR000507681|Genetic_Testing_Registry_(GTR):GTR000514623|Genetic_Testing_Registry_(GTR):GTR000515735|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000521390|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001;DATES_ORDERED=2014-11-27
2 241815405 . C A . . START=241815405;STOP=241815405;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204202;RCV=RCV000186409;SCV=SCV000239759;ALLELE_ID=200560;SYMBOL=AGXT;HGVS_C=NM_000030.2:c.830C>A;HGVS_P=NP_000021.1:p.Ala277Asp;MOLECULAR_CONSEQUENCE=NM_000030.2:c.830C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=20301460|22547750;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1283|Genetic_Alliance:Primary+hyperoxaluria+type+1/5947|Genetic_Testing_Registry_(GTR):GTR000118454|Genetic_Testing_Registry_(GTR):GTR000507681|Genetic_Testing_Registry_(GTR):GTR000514623|Genetic_Testing_Registry_(GTR):GTR000515735|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000521390|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001;DATES_ORDERED=2014-11-27
3 15676984 . GCGGCTG TCC . . START=15676984;STOP=15676990;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38562;RCV=RCV000021886;SCV=SCV000042553;ALLELE_ID=16934;SYMBOL=BTD;HGVS_C=NM_000060.4:c.98_104delGCGGCTGinsTCC;HGVS_P=NP_000051.1:p.Cys33Phefs;MOLECULAR_CONSEQUENCE=NM_000060.4:c.98_104delGCGGCTGinsTCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_19..2017;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=14707518|15776412|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15677019 . G A . . START=15677019;STOP=15677019;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24975|38563;RCV=RCV000021890|RCV000021889;SCV=SCV000042558|SCV000042557;ALLELE_ID=36313;SYMBOL=BTD;HGVS_C=NM_000060.4:c.133G>A;HGVS_P=NP_000051.1:p.Gly45Arg;MOLECULAR_CONSEQUENCE=NM_000060.4:c.133G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_08..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=10400129|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15677045 . C A . . START=15677045;STOP=15677045;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24977;RCV=RCV000021892;SCV=SCV000042560;ALLELE_ID=36316;SYMBOL=BTD;HGVS_C=NM_000060.4:c.159C>A;HGVS_P=NP_000051.1:p.His53Gln;MOLECULAR_CONSEQUENCE=NM_000060.4:c.159C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15677046 . G T . . START=15677046;STOP=15677046;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24977;RCV=RCV000021892;SCV=SCV000042560;ALLELE_ID=36317;SYMBOL=BTD;HGVS_C=NM_000060.4:c.160G>T;HGVS_P=NP_000051.1:p.Glu54Ter;MOLECULAR_CONSEQUENCE=NM_000060.4:c.160G>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15677098 . T C . . START=15677098;STOP=15677098;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38562|38564;RCV=RCV000021886|RCV000021901;SCV=SCV000042553|SCV000042569;ALLELE_ID=47043;SYMBOL=BTD;HGVS_C=NM_000060.4:c.212T>C;HGVS_P=NP_000051.1:p.Leu71Pro;MOLECULAR_CONSEQUENCE=NM_000060.4:c.212T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_09..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=14707518|15776412|20301497|22378278|22475884|9396567|15060693;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15677121 . C T . . START=15677121;STOP=15677121;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38565|38566;RCV=RCV000021903|RCV000032009;SCV=SCV000042572|SCV000042573;ALLELE_ID=16944;SYMBOL=BTD;HGVS_C=NM_000060.4:c.235C>T;HGVS_P=NP_000051.1:p.Arg79Cys;MOLECULAR_CONSEQUENCE=NM_000060.4:c.235C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_28..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=10801053|15776412|16435182|20301497|22378278|22475884|10400129|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15677122 . G A . . START=15677122;STOP=15677122;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38564;RCV=RCV000021901;SCV=SCV000042569;ALLELE_ID=46851;SYMBOL=BTD;HGVS_C=NM_000060.4:c.236G>A;HGVS_P=NP_000051.1:p.Arg79His;MOLECULAR_CONSEQUENCE=NM_000060.4:c.236G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=14707518|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15677169 . C T . . START=15677169;STOP=15677169;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24994;RCV=RCV000021912;SCV=SCV000042581;ALLELE_ID=36332;SYMBOL=BTD;HGVS_C=NM_000060.4:c.283C>T;HGVS_P=NP_000051.1:p.Gln95Ter;MOLECULAR_CONSEQUENCE=NM_000060.4:c.283C>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15685833 . G A . . START=15685833;STOP=15685833;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38566|38568;RCV=RCV000032009|RCV000021933;SCV=SCV000042573|SCV000042602;ALLELE_ID=46845;SYMBOL=BTD;HGVS_C=NM_000060.4:c.470G>A;HGVS_P=NP_000051.1:p.Arg157His;MOLECULAR_CONSEQUENCE=NM_000060.4:c.470G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_25..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=10400129|10801053|15776412|16435182|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15685874 . G A . . START=15685874;STOP=15685874;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25016;RCV=RCV000021936;SCV=SCV000022135|SCV000042605;ALLELE_ID=36353;SYMBOL=BTD;HGVS_C=NM_000060.4:c.511G>A;HGVS_P=NP_000051.1:p.Ala171Thr;MOLECULAR_CONSEQUENCE=NM_000060.4:c.511G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|21228398|22378278|22475884|7509806|9375914|9654207;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2011-01-12|2012-12-04
3 15686004 . A G . . START=15686004;STOP=15686004;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25030;RCV=RCV000021952;SCV=SCV000042621;ALLELE_ID=36367;SYMBOL=BTD;HGVS_C=NM_000060.4:c.641A>G;HGVS_P=NP_000051.1:p.Asn214Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.641A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_18..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15686157 . A T . . START=15686157;STOP=15686157;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25042;RCV=RCV000021964;SCV=SCV000042634;ALLELE_ID=36378;SYMBOL=BTD;HGVS_C=NM_000060.4:c.794A>T;HGVS_P=NP_000051.1:p.His265Leu;MOLECULAR_CONSEQUENCE=NM_000060.4:c.794A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=12359137|20083419|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15686228 . G C . . START=15686228;STOP=15686228;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38563;RCV=RCV000021889;SCV=SCV000042557;ALLELE_ID=46848;SYMBOL=BTD;HGVS_C=NM_000060.4:c.865G>C;HGVS_P=NP_000051.1:p.Ala289Pro;MOLECULAR_CONSEQUENCE=NM_000060.4:c.865G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15686296 . T G . . START=15686296;STOP=15686296;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25042;RCV=RCV000021964;SCV=SCV000042634;ALLELE_ID=36379;SYMBOL=BTD;HGVS_C=NM_000060.4:c.933T>G;HGVS_P=NP_000051.1:p.Ser311Arg;MOLECULAR_CONSEQUENCE=NM_000060.4:c.933T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=12359137|20083419|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15686534 . C T . . START=15686534;STOP=15686534;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38571;RCV=RCV000021985;SCV=SCV000042655;ALLELE_ID=46849;SYMBOL=BTD;HGVS_C=NM_001281724.2:c.1177C>T;HGVS_P=NP_001268653.1:p.Pro393Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1171C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_22..2017;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=11668630|15776412|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15686570 . T G . . START=15686570;STOP=15686570;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1904;RCV=RCV000001981;SCV=SCV000022139|SCV000042659;ALLELE_ID=16943;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1207T>G;HGVS_P=NP_000051.1:p.Phe403Val;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1207T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=Apr_29..2016;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=1999-07-01|2012-12-04
3 15686634 . G C . . START=15686634;STOP=15686634;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24975;RCV=RCV000021890;SCV=SCV000042558;ALLELE_ID=36314;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1271G>C;HGVS_P=NP_000051.1:p.Cys424Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1271G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15686693 . G C . . START=15686693;STOP=15686693;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1904|24994|25016|25030|38568;RCV=RCV000001981|RCV000021912|RCV000021936|RCV000021952|RCV000021933;SCV=SCV000022139|SCV000042659|SCV000042581|SCV000022135|SCV000042605|SCV000042621|SCV000042602;ALLELE_ID=16939;SYMBOL=BTD;HGVS_C=NM_001281724.2:c.1336G>C;HGVS_P=NP_001268653.1:p.Asp446His;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1330G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=7;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_13..2017;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884|21228398|7509806|9375914|9654207|16435182|9396567;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=1999-07-01|2012-12-04|2011-01-12
3 15686697 . G T . . START=15686697;STOP=15686697;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38571;RCV=RCV000021985;SCV=SCV000042655;ALLELE_ID=36396;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1334G>T;HGVS_P=NP_000051.1:p.Gly445Val;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1334G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=11668630|15776412|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 15686724 . A C . . START=15686724;STOP=15686724;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38565;RCV=RCV000021903;SCV=SCV000042572;ALLELE_ID=36326;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1361A>C;HGVS_P=NP_000051.1:p.Tyr454Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1361A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10801053|15776412|16435182|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04
3 33060002 . G A . . START=33060002;STOP=33060002;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208495;RCV=RCV000190508;SCV=SCV000245394;ALLELE_ID=205010;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.1285C>T;HGVS_P=NP_000395.2:p.Pro429Ser;MOLECULAR_CONSEQUENCE=NM_000404.3:c.1285C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_13..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mucopolysaccharidosis..MPS-IV-B;ALL_PMIDS=24156116;ORIGIN=germline;XREFS=GeneReviews:NBK164500|Genetic_Alliance:Morquio+syndrome+B/4877|MedGen:C0086652|OMIM:253010|Orphanet:582|SNOMED_CT:238044004;DATES_ORDERED=2016-05-13
3 33065789 . G T . . START=33065789;STOP=33065789;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208495;RCV=RCV000190508;SCV=SCV000245394;ALLELE_ID=205011;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.1097C>A;HGVS_P=NP_000395.2:p.Pro366His;MOLECULAR_CONSEQUENCE=NM_000404.3:c.1097C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_13..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mucopolysaccharidosis..MPS-IV-B;ALL_PMIDS=24156116;ORIGIN=germline;XREFS=GeneReviews:NBK164500|Genetic_Alliance:Morquio+syndrome+B/4877|MedGen:C0086652|OMIM:253010|Orphanet:582|SNOMED_CT:238044004;DATES_ORDERED=2016-05-13
3 38593004 . G A . . START=38593004;STOP=38593004;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440848;RCV=RCV000009965;SCV=SCV000030186;ALLELE_ID=38446;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.4859C>T;HGVS_P=NP_932173.1:p.Thr1620Met;MOLECULAR_CONSEQUENCE=NM_000335.4:c.4856C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_10..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10618304|19251209|20129283|20301690|21321465|21810866|23788249|25356965|27854360|9521325;ORIGIN=germline;XREFS=GeneReviews:NBK1517|MedGen:CN029323|OMIM:601144|Orphanet:130;DATES_ORDERED=2000-01-04
3 38608046 . G A . . START=38608046;STOP=38608046;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440848;RCV=RCV000009965;SCV=SCV000030186;ALLELE_ID=24410;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.3694C>T;HGVS_P=NP_932173.1:p.Arg1232Trp;MOLECULAR_CONSEQUENCE=NM_000335.4:c.3691C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10618304|19251209|20129283|20301690|21321465|21810866|23788249|25356965|27854360|9521325;ORIGIN=germline;XREFS=GeneReviews:NBK1517|MedGen:CN029323|OMIM:601144|Orphanet:130;DATES_ORDERED=2000-01-04
3 38645420 . T C . . START=38645420;STOP=38645420;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440849;RCV=RCV000010000;SCV=SCV000030221;ALLELE_ID=38447;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.1673A>G;HGVS_P=NP_932173.1:p.His558Arg;MOLECULAR_CONSEQUENCE=NM_000335.4:c.1673A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Progressive_familial_heart_block_type_1A|PROGRESSIVE_FAMILIAL_HEART_BLOCK..TYPE_IA;ALL_PMIDS=10807545|11463728|11997281|12569159|12639704|14760|18378609|23788249|23994779|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Progressive+familial+heart+block+type+1A/5978|Genetics_Home_Reference:progressive-familial-heart-block|MedGen:C1879286|OMIM:113900|OMIM:600163.0009|OMIM:600163.0017|OMIM:600163.0018|OMIM:600163.0031|Office_of_Rare_Diseases:1093|Orphanet:871;DATES_ORDERED=2008-04-15
3 38645558 . G A . . START=38645558;STOP=38645558;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440849;RCV=RCV000010000;SCV=SCV000030221;ALLELE_ID=24437;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.1535C>T;HGVS_P=NP_932173.1:p.Thr512Ile;MOLECULAR_CONSEQUENCE=NM_198056.2:c.1535C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_27..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Progressive_familial_heart_block_type_1A|PROGRESSIVE_FAMILIAL_HEART_BLOCK..TYPE_IA;ALL_PMIDS=10807545|11463728|11997281|12569159|12639704|14760|18378609|23788249|23994779|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Progressive+familial+heart+block+type+1A/5978|Genetics_Home_Reference:progressive-familial-heart-block|MedGen:C1879286|OMIM:113900|OMIM:600163.0009|OMIM:600163.0017|OMIM:600163.0018|OMIM:600163.0031|Office_of_Rare_Diseases:1093|Orphanet:871;DATES_ORDERED=2008-04-15
3 39307162 . G A . . START=39307162;STOP=39307162;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8152;RCV=RCV000008629|RCV000008630|RCV000023109;SCV=SCV000028837|SCV000028838|SCV000044400;ALLELE_ID=36774;SYMBOL=CX3CR1;HGVS_C=NM_001171174.1:c.935C>T;HGVS_P=NP_001164645.1:p.Thr312Met;MOLECULAR_CONSEQUENCE=NM_001171174.1:c.935C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|protective|risk_factor;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Human_immunodeficiency_virus_type_1..rapid_progression_to_AIDS|HUMAN_IMMUNODEFICIENCY_VIRUS_TYPE_1..RAPID_PROGRESSION_TO_AIDS|Coronary_artery_disease..resistance_to|MACULAR_DEGENERATION..AGE-RELATED..12..SUSCEPTIBILITY_TO;ALL_PMIDS=10731151|11264153|12697743|15208270|17909628|23716478;ORIGIN=germline;XREFS=MedGen:C4016733|MedGen:C1832288|OMIM:601470.0001;DATES_ORDERED=2014-09-05|2015-05-18|2013-12-01
3 39307256 . C T . . START=39307256;STOP=39307256;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8152;RCV=RCV000008629|RCV000008630|RCV000023109;SCV=SCV000028837|SCV000028838|SCV000044400;ALLELE_ID=23191;SYMBOL=CX3CR1;HGVS_C=NM_001171174.1:c.841G>A;HGVS_P=NP_001164645.1:p.Val281Ile;MOLECULAR_CONSEQUENCE=NM_001171174.1:c.841G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|protective|risk_factor;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Human_immunodeficiency_virus_type_1..rapid_progression_to_AIDS|HUMAN_IMMUNODEFICIENCY_VIRUS_TYPE_1..RAPID_PROGRESSION_TO_AIDS|Coronary_artery_disease..resistance_to|MACULAR_DEGENERATION..AGE-RELATED..12..SUSCEPTIBILITY_TO;ALL_PMIDS=10731151|11264153|12697743|15208270|17909628|23716478;ORIGIN=germline;XREFS=MedGen:C4016733|MedGen:C1832288|OMIM:601470.0001;DATES_ORDERED=2014-09-05|2015-05-18|2013-12-01
3 42733468 . T C . . START=42733468;STOP=42733468;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=228777;RCV=RCV000213109;SCV=SCV000271889;ALLELE_ID=229063;SYMBOL=KLHL40;HGVS_C=NM_152393.3:c.1849T>C;HGVS_P=NP_689606.2:p.Cys617Arg;MOLECULAR_CONSEQUENCE=NM_152393.3:c.1849T>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-18
3 42733469 . G A . . START=42733469;STOP=42733469;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=228777;RCV=RCV000213109;SCV=SCV000271889;ALLELE_ID=229064;SYMBOL=KLHL40;HGVS_C=NM_152393.3:c.1850G>A;HGVS_P=NP_689606.2:p.Cys617Tyr;MOLECULAR_CONSEQUENCE=NM_152393.3:c.1850G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_18..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-18
3 49160612 . G A . . START=49160612;STOP=49160612;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14535;RCV=RCV000015634;SCV=SCV000035899;ALLELE_ID=38466;SYMBOL=LAMB2;HGVS_C=NM_002292.3:c.4177C>T;HGVS_P=NP_002283.3:p.Leu1393Phe;MOLECULAR_CONSEQUENCE=NM_002292.3:c.4177C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nephrotic_syndrome..type_5..with_or_without_ocular_abnormalities|NEPHROTIC_SYNDROME..TYPE_5..WITH_OCULAR_ABNORMALITIES;ALL_PMIDS=16912710;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989|MedGen:C3280113|OMIM:150325.0006|OMIM:150325.0007|OMIM:150325.0008|OMIM:150325.0009|OMIM:150325.0010|OMIM:150325.0011|OMIM:614199|Orphanet:306507;DATES_ORDERED=2006-09-01
3 49160649 . G T . . START=49160649;STOP=49160649;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14535;RCV=RCV000015634;SCV=SCV000035899;ALLELE_ID=29574;SYMBOL=LAMB2;HGVS_C=NM_002292.3:c.4140C>A;HGVS_P=NP_002283.3:p.Asn1380Lys;MOLECULAR_CONSEQUENCE=NM_002292.3:c.4140C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nephrotic_syndrome..type_5..with_or_without_ocular_abnormalities|NEPHROTIC_SYNDROME..TYPE_5..WITH_OCULAR_ABNORMALITIES;ALL_PMIDS=16912710;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989|MedGen:C3280113|OMIM:150325.0006|OMIM:150325.0007|OMIM:150325.0008|OMIM:150325.0009|OMIM:150325.0010|OMIM:150325.0011|OMIM:614199|Orphanet:306507;DATES_ORDERED=2006-09-01
3 64142981 . C T . . START=64142981;STOP=64142981;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=30731;RCV=RCV000023709;SCV=SCV000045000;ALLELE_ID=39689;SYMBOL=PRICKLE2;HGVS_C=NM_198859.3:c.457G>A;HGVS_P=NP_942559.1:p.Val153Ile;MOLECULAR_CONSEQUENCE=NM_198859.3:c.457G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_10..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947|26942291|26942292|632821;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:CN226157|OMIM:613832|Orphanet:402082;DATES_ORDERED=2011-02-11
3 64142995 . C T . . START=64142995;STOP=64142995;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=30731;RCV=RCV000023709;SCV=SCV000045000;ALLELE_ID=39688;SYMBOL=PRICKLE2;HGVS_C=NM_198859.3:c.443G>A;HGVS_P=NP_942559.1:p.Arg148His;MOLECULAR_CONSEQUENCE=NM_198859.3:c.443G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_20..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947|26942291|26942292|632821;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:CN226157|OMIM:613832|Orphanet:402082;DATES_ORDERED=2011-02-11
3 114057857 . C T . . START=114057857;STOP=114057857;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=253111;RCV=RCV000239523;SCV=SCV000297909;ALLELE_ID=247522;SYMBOL=ZBTB20;HGVS_C=NM_001164342.2:c.2221G>A;HGVS_P=NP_001157814.1:p.Gly741Arg;MOLECULAR_CONSEQUENCE=NM_001164342.2:c.2221G>A:missense_variant|NR_121662.1:n.883G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Primrose_syndrome|PRIMROSE_SYNDROME;ALL_PMIDS=27061120;ORIGIN=germline;XREFS=Genetic_Alliance:Primrose+syndrome/5964|MedGen:C0796121|OMIM:259050|Office_of_Rare_Diseases:4488;DATES_ORDERED=2016-08-08
3 114058231 . G A . . START=114058231;STOP=114058231;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=253111;RCV=RCV000239523;SCV=SCV000297909;ALLELE_ID=247523;SYMBOL=ZBTB20;HGVS_C=NM_001164342.2:c.1847C>T;HGVS_P=NP_001157814.1:p.Ser616Phe;MOLECULAR_CONSEQUENCE=NM_001164342.2:c.1847C>T:missense_variant|NR_121662.1:n.509C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Primrose_syndrome|PRIMROSE_SYNDROME;ALL_PMIDS=27061120;ORIGIN=germline;XREFS=Genetic_Alliance:Primrose+syndrome/5964|MedGen:C0796121|OMIM:259050|Office_of_Rare_Diseases:4488;DATES_ORDERED=2016-08-08
3 124454069 . A G . . START=124454069;STOP=124454069;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11906;RCV=RCV000012681;SCV=SCV000032916;ALLELE_ID=26945;SYMBOL=UMPS;HGVS_C=NM_000373.3:c.286A>G;HGVS_P=NP_000364.1:p.Arg96Gly;MOLECULAR_CONSEQUENCE=NM_000373.3:c.286A>G:missense_variant|NR_033434.1:n.263-2346A>G:intron_variant|NR_033437.1:n.491A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Orotic_aciduria|OROTIC_ACIDURIA;ALL_PMIDS=9042911;ORIGIN=germline;XREFS=Genetic_Alliance:Orotic+aciduria+hereditary/5431|MedGen:C0268128|OMIM:258900|OMIM:258920|Orphanet:30|SNOMED_CT:47641009|SNOMED_CT:90093009;DATES_ORDERED=1997-03-01
3 124462773 . G C . . START=124462773;STOP=124462773;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11906;RCV=RCV000012681;SCV=SCV000032916;ALLELE_ID=38455;SYMBOL=UMPS;HGVS_C=NM_000373.3:c.1285G>C;HGVS_P=NP_000364.1:p.Gly429Arg;MOLECULAR_CONSEQUENCE=NM_000373.3:c.1285G>C:missense_variant|NR_033434.1:n.1237G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Orotic_aciduria|OROTIC_ACIDURIA;ALL_PMIDS=9042911;ORIGIN=germline;XREFS=Genetic_Alliance:Orotic+aciduria+hereditary/5431|MedGen:C0268128|OMIM:258900|OMIM:258920|Orphanet:30|SNOMED_CT:47641009|SNOMED_CT:90093009;DATES_ORDERED=1997-03-01
3 193355102 . T C . . START=193355102;STOP=193355102;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5089;RCV=RCV000005394;SCV=SCV000025574;ALLELE_ID=101627;SYMBOL=OPA1;HGVS_C=NM_015560.2:c.870+32T>C;MOLECULAR_CONSEQUENCE=NM_015560.2:c.870+32T>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_22..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glaucoma..normal_tension..susceptibility_to|GLAUCOMA..NORMAL_TENSION..SUSCEPTIBILITY_TO;ALL_PMIDS=11810296|12073024|17188046|19581274;ORIGIN=germline;XREFS=Genetic_Alliance:Glaucoma%2C+normal+tension%2C+susceptibility+to/8467|MedGen:C1847730|OMIM:606657;DATES_ORDERED=2010-02-01
4 996555 . G C . . START=996555;STOP=996555;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11911;RCV=RCV000012686;SCV=SCV000032921;ALLELE_ID=26950;SYMBOL=IDUA;HGVS_C=NM_000203.4:c.1225G>C;HGVS_P=NP_000194.2:p.Gly409Arg;MOLECULAR_CONSEQUENCE=NM_000203.4:c.1225G>C:missense_variant|NR_110313.1:n.1313G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_08..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hurler_syndrome|HURLER_SYNDROME;ALL_PMIDS=20301341|8328452;ORIGIN=germline;XREFS=GeneReviews:NBK1162|Genetic_Alliance:Mucopolysaccharidosis+type+I/4912|MedGen:C0086795|OMIM:607014;DATES_ORDERED=1993-08-01
4 998181 . A T . . START=998181;STOP=998181;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11911;RCV=RCV000012686;SCV=SCV000032921;ALLELE_ID=38456;SYMBOL=IDUA;HGVS_C=NM_000203.4:c.1962A>T;HGVS_P=NP_000194.2:p.Ter654Cys;MOLECULAR_CONSEQUENCE=NM_000203.4:c.1962A>T:stop_lost|NR_110313.1:n.2054A>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hurler_syndrome|HURLER_SYNDROME;ALL_PMIDS=20301341|8328452;ORIGIN=germline;XREFS=GeneReviews:NBK1162|Genetic_Alliance:Mucopolysaccharidosis+type+I/4912|MedGen:C0086795|OMIM:607014;DATES_ORDERED=1993-08-01
4 70898903 . G A . . START=70898903;STOP=70898903;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=14913;RCV=RCV000016048;SCV=SCV000036315;ALLELE_ID=38467;SYMBOL=HTN3;HGVS_C=NM_000200.2:c.122G>A;HGVS_P=NP_000191.1:p.Arg41Gln;MOLECULAR_CONSEQUENCE=NM_000200.2:c.122G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1994;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HIS2*1/HIS2*2_POLYMORPHISM|HIS2*1/HIS2*2_POLYMORPHISM;ALL_PMIDS=7951254;ORIGIN=germline;XREFS=OMIM:142702.0001;DATES_ORDERED=1994-01-01
4 70898922 . T A . . START=70898922;STOP=70898922;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=14913;RCV=RCV000016048;SCV=SCV000036315;ALLELE_ID=29952;SYMBOL=HTN3;HGVS_C=NM_000200.2:c.141T>A;HGVS_P=NP_000191.1:p.Tyr47Ter;MOLECULAR_CONSEQUENCE=NM_000200.2:c.141T>A:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1994;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HIS2*1/HIS2*2_POLYMORPHISM|HIS2*1/HIS2*2_POLYMORPHISM;ALL_PMIDS=7951254;ORIGIN=germline;XREFS=OMIM:142702.0001;DATES_ORDERED=1994-01-01
4 103189073 . C G . . START=103189073;STOP=103189073;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=218898;RCV=RCV000203237;SCV=SCV000258313;ALLELE_ID=215658;SYMBOL=SLC39A8;HGVS_C=NM_022154.5:c.1004G>C;HGVS_P=NP_071437.3:p.Ser335Thr;MOLECULAR_CONSEQUENCE=NM_022154.5:c.1004G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:C4225234|OMIM:608732.0001|OMIM:608732.0002|OMIM:608732.0003|OMIM:608732.0004|OMIM:616721;DATES_ORDERED=2015-12-03
4 103265723 . C T . . START=103265723;STOP=103265723;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=218898;RCV=RCV000203237;SCV=SCV000258313;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:C4225234|OMIM:608732.0001|OMIM:608732.0002|OMIM:608732.0003|OMIM:608732.0004|OMIM:616721;DATES_ORDERED=2015-12-03
4 109088743 . A G . . START=109088743;STOP=109088743;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14382;RCV=RCV000015459;SCV=SCV000035724;ALLELE_ID=38464;SYMBOL=LEF1;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Sebaceous_tumors..somatic|SEBACEOUS_TUMORS..SOMATIC;ALL_PMIDS=16565724;ORIGIN=somatic;XREFS=MedGen:C1835244;DATES_ORDERED=2006-04-01
4 109088791 . C T . . START=109088791;STOP=109088791;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14382;RCV=RCV000015459;SCV=SCV000035724;ALLELE_ID=29421;SYMBOL=LEF1;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Sebaceous_tumors..somatic|SEBACEOUS_TUMORS..SOMATIC;ALL_PMIDS=16565724;ORIGIN=somatic;XREFS=MedGen:C1835244;DATES_ORDERED=2006-04-01
5 225549 . G C . . START=225549;STOP=225549;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190221;RCV=RCV000170440;SCV=SCV000222878;ALLELE_ID=188048;SYMBOL=SDHA;HGVS_C=NM_004168.3:c.328G>C;HGVS_P=NP_004159.2:p.Ala110Pro;MOLECULAR_CONSEQUENCE=NM_001294332.1:c.313-449G>C:intron_variant|NM_004168.3:c.328G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_10..2015;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mitochondrial_complex_II_deficiency|Mitochondrial_complex_II_deficiency;ALL_PMIDS=10746566|22972948;ORIGIN=germline;XREFS=Genetic_Alliance:Mitochondrial+complex+II+deficiency/4824|MedGen:C1855008|OMIM:252011|Office_of_Rare_Diseases:5053|Orphanet:3208;DATES_ORDERED=2015-03-10
5 240589 . A G . . START=240589;STOP=240589;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190221;RCV=RCV000170440;SCV=SCV000222878;ALLELE_ID=188049;SYMBOL=SDHA;HGVS_C=NM_004168.3:c.1549A>G;HGVS_P=NP_004159.2:p.Lys517Glu;MOLECULAR_CONSEQUENCE=NM_004168.3:c.1549A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_10..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mitochondrial_complex_II_deficiency|Mitochondrial_complex_II_deficiency;ALL_PMIDS=10746566|22972948;ORIGIN=germline;XREFS=Genetic_Alliance:Mitochondrial+complex+II+deficiency/4824|MedGen:C1855008|OMIM:252011|Office_of_Rare_Diseases:5053|Orphanet:3208;DATES_ORDERED=2015-03-10
5 1266634 . C T . . START=1266634;STOP=1266634;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=36946;RCV=RCV000030627;SCV=SCV000053305;ALLELE_ID=45604;SYMBOL=TERT;HGVS_C=NM_198253.2:c.2599G>A;HGVS_P=NP_937983.2:p.Val867Met;MOLECULAR_CONSEQUENCE=NM_198253.2:c.2599G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pulmonary_fibrosis_and/or_bone_marrow_failure..telomere-related..1|PULMONARY_FIBROSIS..TELOMERE-RELATED..1;ALL_PMIDS=21483807;ORIGIN=germline;XREFS=MedGen:C3553617|OMIM:187270.0001|OMIM:187270.0002|OMIM:187270.0003|OMIM:187270.0004|OMIM:187270.0005|OMIM:187270.0008|OMIM:187270.0009|OMIM:187270.0010|OMIM:187270.0015|OMIM:187270.0016|OMIM:187270.0017|OMIM:614742|Orphanet:88;DATES_ORDERED=2011-03-01
5 1272311 . C T . . START=1272311;STOP=1272311;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=36946;RCV=RCV000030627;SCV=SCV000053305;ALLELE_ID=45603;SYMBOL=TERT;HGVS_C=NM_198253.2:c.2371G>A;HGVS_P=NP_937983.2:p.Val791Ile;MOLECULAR_CONSEQUENCE=NM_198253.2:c.2371G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pulmonary_fibrosis_and/or_bone_marrow_failure..telomere-related..1|PULMONARY_FIBROSIS..TELOMERE-RELATED..1;ALL_PMIDS=21483807;ORIGIN=germline;XREFS=MedGen:C3553617|OMIM:187270.0001|OMIM:187270.0002|OMIM:187270.0003|OMIM:187270.0004|OMIM:187270.0005|OMIM:187270.0008|OMIM:187270.0009|OMIM:187270.0010|OMIM:187270.0015|OMIM:187270.0016|OMIM:187270.0017|OMIM:614742|Orphanet:88;DATES_ORDERED=2011-03-01
5 41853537 . A T . . START=41853537;STOP=41853537;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8165;RCV=RCV000008643;SCV=SCV000028852;ALLELE_ID=38389;SYMBOL=OXCT1;HGVS_C=NM_000436.3:c.398T>A;HGVS_P=NP_000427.1:p.Val133Glu;MOLECULAR_CONSEQUENCE=NM_000436.3:c.398T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Succinyl-CoA_acetoacetate_transferase_deficiency|SUCCINYL-CoA:3-OXOACID-CoA_TRANSFERASE_DEFICIENCY;ALL_PMIDS=9671268;ORIGIN=germline;XREFS=Genetic_Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918|MedGen:C0342792|OMIM:245050|Office_of_Rare_Diseases:5057|Orphanet:832|SNOMED_CT:238004006;DATES_ORDERED=1998-01-01
5 41862758 . G A . . START=41862758;STOP=41862758;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8165;RCV=RCV000008643;SCV=SCV000028852;ALLELE_ID=23204;SYMBOL=OXCT1;HGVS_C=NM_000436.3:c.173C>T;HGVS_P=NP_000427.1:p.Thr58Met;MOLECULAR_CONSEQUENCE=NM_000436.3:c.173C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Succinyl-CoA_acetoacetate_transferase_deficiency|SUCCINYL-CoA:3-OXOACID-CoA_TRANSFERASE_DEFICIENCY;ALL_PMIDS=9671268;ORIGIN=germline;XREFS=Genetic_Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918|MedGen:C0342792|OMIM:245050|Office_of_Rare_Diseases:5057|Orphanet:832|SNOMED_CT:238004006;DATES_ORDERED=1998-01-01
5 112043220 . A C . . START=112043220;STOP=112043220;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=243004;RCV=RCV000234986;SCV=SCV000292335;ALLELE_ID=244097;SYMBOL=APC;HGVS_C=NM_001127511.2:c.-195A>C;MOLECULAR_CONSEQUENCE=NM_001127511.2:c.-195A>C:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_adenomatous_polyposis_1|FAMILIAL_ADENOMATOUS_POLYPOSIS_1_OF_PROXIMAL_STOMACH;ALL_PMIDS=11598466|15604628|20301519|21368914|21813476|23788249|24310308|25356965|25452455|25645574|27087319|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1345|Genetic_Testing_Registry_(GTR):GTR000172265|Genetic_Testing_Registry_(GTR):GTR000321103|Genetic_Testing_Registry_(GTR):GTR000326160|Genetic_Testing_Registry_(GTR):GTR000330056|Genetic_Testing_Registry_(GTR):GTR000500363|Genetic_Testing_Registry_(GTR):GTR000500599|Genetic_Testing_Registry_(GTR):GTR000500894|Genetic_Testing_Registry_(GTR):GTR000501393|Genetic_Testing_Registry_(GTR):GTR000501394|Genetic_Testing_Registry_(GTR):GTR000501794|Genetic_Testing_Registry_(GTR):GTR000508954|Genetic_Testing_Registry_(GTR):GTR000512300|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000515534|Genetic_Testing_Registry_(GTR):GTR000515885|Genetic_Testing_Registry_(GTR):GTR000515899|Genetic_Testing_Registry_(GTR):GTR000520026|Genetic_Testing_Registry_(GTR):GTR000520047|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520077|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520868|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521915|Genetic_Testing_Registry_(GTR):GTR000522559|Genetic_Testing_Registry_(GTR):GTR000527982|Genetic_Testing_Registry_(GTR):GTR000527984|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000529017|Genetic_Testing_Registry_(GTR):GTR000530028|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552290|Genetic_Testing_Registry_(GTR):GTR000552303|MedGen:C2713442|OMIM:175100|OMIM:611731.0021|OMIM:611731.0028|OMIM:611731.0034|OMIM:611731.0035|OMIM:611731.0036|OMIM:611731.0038|OMIM:611731.0042|OMIM:611731.0043|OMIM:611731.0049;DATES_ORDERED=2016-07-12
5 112043289 . GA G . . START=112043290;STOP=112043290;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=243004;RCV=RCV000234986;SCV=SCV000292335;ALLELE_ID=244084;SYMBOL=APC;HGVS_C=NM_001127511.2:c.-125delA;MOLECULAR_CONSEQUENCE=NM_001127511.2:c.-125delA:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_adenomatous_polyposis_1|FAMILIAL_ADENOMATOUS_POLYPOSIS_1_OF_PROXIMAL_STOMACH;ALL_PMIDS=11598466|15604628|20301519|21368914|21813476|23788249|24310308|25356965|25452455|25645574|27087319|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1345|Genetic_Testing_Registry_(GTR):GTR000172265|Genetic_Testing_Registry_(GTR):GTR000321103|Genetic_Testing_Registry_(GTR):GTR000326160|Genetic_Testing_Registry_(GTR):GTR000330056|Genetic_Testing_Registry_(GTR):GTR000500363|Genetic_Testing_Registry_(GTR):GTR000500599|Genetic_Testing_Registry_(GTR):GTR000500894|Genetic_Testing_Registry_(GTR):GTR000501393|Genetic_Testing_Registry_(GTR):GTR000501394|Genetic_Testing_Registry_(GTR):GTR000501794|Genetic_Testing_Registry_(GTR):GTR000508954|Genetic_Testing_Registry_(GTR):GTR000512300|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000515534|Genetic_Testing_Registry_(GTR):GTR000515885|Genetic_Testing_Registry_(GTR):GTR000515899|Genetic_Testing_Registry_(GTR):GTR000520026|Genetic_Testing_Registry_(GTR):GTR000520047|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520077|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520868|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521915|Genetic_Testing_Registry_(GTR):GTR000522559|Genetic_Testing_Registry_(GTR):GTR000527982|Genetic_Testing_Registry_(GTR):GTR000527984|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000529017|Genetic_Testing_Registry_(GTR):GTR000530028|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552290|Genetic_Testing_Registry_(GTR):GTR000552303|MedGen:C2713442|OMIM:175100|OMIM:611731.0021|OMIM:611731.0028|OMIM:611731.0034|OMIM:611731.0035|OMIM:611731.0036|OMIM:611731.0038|OMIM:611731.0042|OMIM:611731.0043|OMIM:611731.0049;DATES_ORDERED=2016-07-12
5 135392443 . C A . . START=135392443;STOP=135392443;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7874;RCV=RCV000008323;SCV=SCV000028531;ALLELE_ID=22913;SYMBOL=TGFBI;HGVS_C=NM_000358.2:c.1637C>A;HGVS_P=NP_000349.1:p.Ala546Asp;MOLECULAR_CONSEQUENCE=NM_000358.2:c.1637C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Lattice_corneal_dystrophy_Type_I|CORNEAL_DYSTROPHY..LATTICE_TYPE_I;ALL_PMIDS=15111592|15531312;ORIGIN=germline;XREFS=Genetic_Alliance:Lattice+corneal+dystrophy+type+1/4117|Genetics_Home_Reference:lattice-corneal-dystrophy-type-i|MedGen:C1690006|OMIM:122200|Office_of_Rare_Diseases:9678|Orphanet:98964|SNOMED_CT:419197009;DATES_ORDERED=2004-11-01
5 135392458 . C A . . START=135392458;STOP=135392458;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7874;RCV=RCV000008323;SCV=SCV000028531;ALLELE_ID=38388;SYMBOL=TGFBI;HGVS_C=NM_000358.2:c.1652C>A;HGVS_P=NP_000349.1:p.Pro551Gln;MOLECULAR_CONSEQUENCE=NM_000358.2:c.1652C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Lattice_corneal_dystrophy_Type_I|CORNEAL_DYSTROPHY..LATTICE_TYPE_I;ALL_PMIDS=15111592|15531312;ORIGIN=germline;XREFS=Genetic_Alliance:Lattice+corneal+dystrophy+type+1/4117|Genetics_Home_Reference:lattice-corneal-dystrophy-type-i|MedGen:C1690006|OMIM:122200|Office_of_Rare_Diseases:9678|Orphanet:98964|SNOMED_CT:419197009;DATES_ORDERED=2004-11-01
5 176942003 . G T . . START=176942003;STOP=176942003;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=403734;RCV=RCV000465916;SCV=SCV000541081;ALLELE_ID=390711;SYMBOL=DDX41;HGVS_C=NM_016222.3:c.712C>A;HGVS_P=NP_057306.2:p.Pro238Thr;MOLECULAR_CONSEQUENCE=NM_016222.3:c.712C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Acute_myeloid_leukemia|Myelodysplasia;ALL_PMIDS=20963938|22138009|23970018|26944477;ORIGIN=germline;XREFS=GeneReviews:NBK47457|Genetic_Testing_Registry_(GTR):GTR000500636|Human_Phenotype_Ontology:HP:0002863|Human_Phenotype_Ontology:HP:0004832|Human_Phenotype_Ontology:HP:0006730|MeSH:D015470|MedGen:C0023467|MedGen:C1851971|OMIM:601626|Orphanet:519|SNOMED_CT:17788007;DATES_ORDERED=0000-00-00
5 176942004 . C A . . START=176942004;STOP=176942004;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=403734;RCV=RCV000465916;SCV=SCV000541081;ALLELE_ID=390712;SYMBOL=DDX41;HGVS_C=NM_016222.3:c.711G>T;HGVS_P=NP_057306.2:p.Leu237Phe;MOLECULAR_CONSEQUENCE=NM_016222.3:c.711G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Acute_myeloid_leukemia|Myelodysplasia;ALL_PMIDS=20963938|22138009|23970018|26944477;ORIGIN=germline;XREFS=GeneReviews:NBK47457|Genetic_Testing_Registry_(GTR):GTR000500636|Human_Phenotype_Ontology:HP:0002863|Human_Phenotype_Ontology:HP:0004832|Human_Phenotype_Ontology:HP:0006730|MeSH:D015470|MedGen:C0023467|MedGen:C1851971|OMIM:601626|Orphanet:519|SNOMED_CT:17788007;DATES_ORDERED=0000-00-00
6 10874613 . A T . . START=10874613;STOP=10874613;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375590;RCV=RCV000417072;SCV=SCV000494617;ALLELE_ID=362401;SYMBOL=GCM2;HGVS_C=NM_004752.3:c.1136T>A;HGVS_P=NP_004743.1:p.Leu379Gln;MOLECULAR_CONSEQUENCE=NM_004752.3:c.1136T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperparathyroidism_4|HYPERPARATHYROIDISM_4;ALL_PMIDS=27745835;ORIGIN=germline;XREFS=MedGen:CN240514|OMIM:617343;DATES_ORDERED=2017-02-10
6 10874998 . G C . . START=10874998;STOP=10874998;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375590;RCV=RCV000417072;SCV=SCV000494617;ALLELE_ID=362400;SYMBOL=GCM2;HGVS_C=NM_004752.3:c.751C>G;HGVS_P=NP_004743.1:p.Gln251Glu;MOLECULAR_CONSEQUENCE=NM_004752.3:c.751C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperparathyroidism_4|HYPERPARATHYROIDISM_4;ALL_PMIDS=27745835;ORIGIN=germline;XREFS=MedGen:CN240514|OMIM:617343;DATES_ORDERED=2017-02-10
6 18130918 . T C . . START=18130918;STOP=18130918;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12722;RCV=RCV000013559;SCV=SCV000033806;ALLELE_ID=27764;SYMBOL=TPMT;HGVS_C=NM_000367.4:c.719A>G;HGVS_P=NP_000358.1:p.Tyr240Cys;MOLECULAR_CONSEQUENCE=NM_000367.4:c.719A>G:missense_variant;CLINICAL_SIGNIFICANCE=drug_response..other;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_21..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Thiopurine_methyltransferase_deficiency|THIOPURINES..POOR_METABOLISM_OF..1;ALL_PMIDS=10208641|12880540|15819814|15967990|8561894|8644731|9177237|9336428|9931345|9931346;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Thiopurine+S+methyltranferase+deficiency/54|Genetic_Testing_Registry_(GTR):GTR000299976|Genetic_Testing_Registry_(GTR):GTR000502252|Genetic_Testing_Registry_(GTR):GTR000509706|Genetic_Testing_Registry_(GTR):GTR000520079|Genetic_Testing_Registry_(GTR):GTR000522313|Genetic_Testing_Registry_(GTR):GTR000522314|Genetic_Testing_Registry_(GTR):GTR000525921|Genetic_Testing_Registry_(GTR):GTR000553222|MedGen:C0342801|OMIM:187680.0001|OMIM:187680.0002|OMIM:187680.0003|OMIM:187680.0004|OMIM:187680.0005|OMIM:187680.0006|OMIM:187680.0007|OMIM:610460|Office_of_Rare_Diseases:5173|Office_of_Rare_Diseases:9153|PharmGKB:PA356|SNOMED_CT:238012003;DATES_ORDERED=2005-06-28
6 18139228 . C T . . START=18139228;STOP=18139228;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12722;RCV=RCV000013559;SCV=SCV000033806;ALLELE_ID=27761;SYMBOL=TPMT;HGVS_C=NM_000367.4:c.460G>A;HGVS_P=NP_000358.1:p.Ala154Thr;MOLECULAR_CONSEQUENCE=NM_000367.4:c.460G>A:missense_variant;CLINICAL_SIGNIFICANCE=drug_response..other;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Thiopurine_methyltransferase_deficiency|THIOPURINES..POOR_METABOLISM_OF..1;ALL_PMIDS=10208641|12880540|15819814|15967990|8561894|8644731|9177237|9336428|9931345|9931346;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Thiopurine+S+methyltranferase+deficiency/54|Genetic_Testing_Registry_(GTR):GTR000299976|Genetic_Testing_Registry_(GTR):GTR000502252|Genetic_Testing_Registry_(GTR):GTR000509706|Genetic_Testing_Registry_(GTR):GTR000520079|Genetic_Testing_Registry_(GTR):GTR000522313|Genetic_Testing_Registry_(GTR):GTR000522314|Genetic_Testing_Registry_(GTR):GTR000525921|Genetic_Testing_Registry_(GTR):GTR000553222|MedGen:C0342801|OMIM:187680.0001|OMIM:187680.0002|OMIM:187680.0003|OMIM:187680.0004|OMIM:187680.0005|OMIM:187680.0006|OMIM:187680.0007|OMIM:610460|Office_of_Rare_Diseases:5173|Office_of_Rare_Diseases:9153|PharmGKB:PA356|SNOMED_CT:238012003;DATES_ORDERED=2005-06-28
6 32007584 . T A . . START=32007584;STOP=32007584;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=31662;RCV=RCV000012947;SCV=SCV000033191;ALLELE_ID=33507;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.710T>A;HGVS_P=NP_000491.4:p.Ile237Asn;MOLECULAR_CONSEQUENCE=NM_000500.7:c.710T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY..SALT-WASTING_TYPE;ALL_PMIDS=15623806|20301350|2249999|2845408;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2005-04-01
6 32007587 . T A . . START=32007587;STOP=32007587;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=31662|65613;RCV=RCV000012947|RCV000055823;SCV=SCV000033191|SCV000086807;ALLELE_ID=27212;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.713T>A;HGVS_P=NP_000491.4:p.Val238Glu;MOLECULAR_CONSEQUENCE=NM_000500.7:c.713T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathologic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2013;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY..SALT-WASTING_TYPE|21-Hydroxylase-Deficient_Congenital_Adrenal_Hyperplasia;ALL_PMIDS=15623806|20301350|2249999|2845408;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2005-04-01|2013-08-29
6 32007593 . T A . . START=32007593;STOP=32007593;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=31662|65613;RCV=RCV000012947|RCV000055823;SCV=SCV000033191|SCV000086807;ALLELE_ID=40032;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.719T>A;HGVS_P=NP_000491.4:p.Met240Lys;MOLECULAR_CONSEQUENCE=NM_000500.7:c.719T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathologic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2013;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY..SALT-WASTING_TYPE|21-Hydroxylase-Deficient_Congenital_Adrenal_Hyperplasia;ALL_PMIDS=15623806|20301350|2249999|2845408;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2005-04-01|2013-08-29
6 32007887 . G T . . START=32007887;STOP=32007887;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=27190;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.844G>T;HGVS_P=NP_000491.4:p.Val282Leu;MOLECULAR_CONSEQUENCE=NM_000500.7:c.844G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01
6 32007959 . G GT . . START=32007966;STOP=32007966;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=76519;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.923dupT;HGVS_P=NP_000491.4:p.Leu308Phefs;MOLECULAR_CONSEQUENCE=NM_000500.7:c.923dupT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01
6 32008198 . C T . . START=32008198;STOP=32008198;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=27208;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.955C>T;HGVS_P=NP_000491.4:p.Gln319Ter;MOLECULAR_CONSEQUENCE=NM_000500.7:c.955C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01
6 32008312 . C T . . START=32008312;STOP=32008312;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=27191;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.1069C>T;HGVS_P=NP_000491.4:p.Arg357Trp;MOLECULAR_CONSEQUENCE=NM_000500.7:c.1069C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01
6 39877666 . G A . . START=39877666;STOP=39877666;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208497;RCV=RCV000190510;SCV=SCV000245396;ALLELE_ID=205013;SYMBOL=MOCS1;HGVS_C=NM_001075098.3:c.1015C>T;HGVS_P=NP_001068566.1:p.Arg339Trp;MOLECULAR_CONSEQUENCE=NM_001075098.3:c.1015C>T:missense_variant|NR_033233.1:n.1022C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_31..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Molybdenum_cofactor_deficiency..complementation_group_A;ALL_PMIDS=21031595;ORIGIN=germline;XREFS=Genetics_Home_Reference:molybdenum-cofactor-deficiency|MedGen:C1854988|OMIM:252150|Orphanet:833;DATES_ORDERED=2016-05-13
6 39880653 . C T . . START=39880653;STOP=39880653;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208497;RCV=RCV000190510;SCV=SCV000245396;ALLELE_ID=205014;SYMBOL=MOCS1;HGVS_C=NM_005943.5:c.853G>A;HGVS_P=NP_005934.2:p.Glu285Lys;MOLECULAR_CONSEQUENCE=NM_001075098.3:c.853G>A:missense_variant|NR_033233.1:n.860G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_31..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Molybdenum_cofactor_deficiency..complementation_group_A;ALL_PMIDS=21031595;ORIGIN=germline;XREFS=Genetics_Home_Reference:molybdenum-cofactor-deficiency|MedGen:C1854988|OMIM:252150|Orphanet:833;DATES_ORDERED=2016-05-13
6 49580217 . C T . . START=49580217;STOP=49580217;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=13065;RCV=RCV000013940;SCV=SCV000034187;ALLELE_ID=38460;SYMBOL=RHAG;HGVS_C=NM_000324.2:c.838G>A;HGVS_P=NP_000315.2:p.Gly280Arg;MOLECULAR_CONSEQUENCE=NM_000324.2:c.838G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1999;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Rh-null_hemolytic_anemia..regulator_type|RH-NULL_HEMOLYTIC_ANEMIA..REGULATOR_TYPE;ALL_PMIDS=9915949;ORIGIN=germline;XREFS=MedGen:C4016364;DATES_ORDERED=1999-01-01
6 49580247 . C T . . START=49580247;STOP=49580247;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=13065;RCV=RCV000013940;SCV=SCV000034187;ALLELE_ID=28104;SYMBOL=RHAG;HGVS_C=NM_000324.2:c.808G>A;HGVS_P=NP_000315.2:p.Val270Ile;MOLECULAR_CONSEQUENCE=NM_000324.2:c.808G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Rh-null_hemolytic_anemia..regulator_type|RH-NULL_HEMOLYTIC_ANEMIA..REGULATOR_TYPE;ALL_PMIDS=9915949;ORIGIN=germline;XREFS=MedGen:C4016364;DATES_ORDERED=1999-01-01
6 52288909 . C A . . START=52288909;STOP=52288909;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2067;RCV=RCV000002148;SCV=SCV000022306;ALLELE_ID=17106;SYMBOL=EFHC1;HGVS_C=NM_018100.3:c.229C>A;HGVS_P=NP_060570.2:p.Pro77Thr;MOLECULAR_CONSEQUENCE=NM_018100.3:c.229C>A:missense_variant|NR_033327.1:n.444C>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Myoclonic_epilepsy..juvenile_1|MYOCLONIC_EPILEPSY..JUVENILE..SUSCEPTIBILITY_TO..1;ALL_PMIDS=12439895|15258581;ORIGIN=germline;DATES_ORDERED=2004-08-01
6 52317574 . G A . . START=52317574;STOP=52317574;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2067;RCV=RCV000002148;SCV=SCV000022306;ALLELE_ID=38421;SYMBOL=EFHC1;HGVS_C=NM_018100.3:c.662G>A;HGVS_P=NP_060570.2:p.Arg221His;MOLECULAR_CONSEQUENCE=NM_018100.3:c.662G>A:missense_variant|NR_033327.1:n.877G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Myoclonic_epilepsy..juvenile_1|MYOCLONIC_EPILEPSY..JUVENILE..SUSCEPTIBILITY_TO..1;ALL_PMIDS=12439895|15258581;ORIGIN=germline;DATES_ORDERED=2004-08-01
6 129601216 . A C . . START=129601216;STOP=129601216;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190218;RCV=RCV000170437;SCV=SCV000222875;ALLELE_ID=188050;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.2461A>C;HGVS_P=NP_000417.2:p.Thr821Pro;MOLECULAR_CONSEQUENCE=NM_000426.3:c.2461A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_08..2015;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468|21078917|22420014|22675738;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008;DATES_ORDERED=2015-04-08
6 129823841 . T C . . START=129823841;STOP=129823841;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190218;RCV=RCV000170437;SCV=SCV000222875;ALLELE_ID=188051;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.8282T>C;HGVS_P=NP_000417.2:p.Ile2761Thr;MOLECULAR_CONSEQUENCE=NM_000426.3:c.8282T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_08..2015;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468|21078917|22420014|22675738;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008;DATES_ORDERED=2015-04-08
6 152697578 . C T . . START=152697578;STOP=152697578;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=92124;RCV=RCV000077790;SCV=SCV000109616;ALLELE_ID=97550;SYMBOL=SYNE1;HGVS_C=NM_033071.3:c.9283G>A;HGVS_P=NP_149062.1:p.Ala3095Thr;MOLECULAR_CONSEQUENCE=NM_182961.3:c.9262G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Intellectual_functioning_disability|VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21956720|24123876;ORIGIN=germline;XREFS=MedGen:C0025362|SNOMED_CT:228156007|SNOMED_CT:91138005;DATES_ORDERED=2013-12-01
6 152784621 . T C . . START=152784621;STOP=152784621;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=92124;RCV=RCV000077790;SCV=SCV000109616;ALLELE_ID=97551;SYMBOL=SYNE1;HGVS_C=NM_033071.3:c.1985A>G;HGVS_P=NP_149062.1:p.Gln662Arg;MOLECULAR_CONSEQUENCE=NM_182961.3:c.1964A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_07..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Intellectual_functioning_disability|VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21956720|24123876;ORIGIN=germline;XREFS=MedGen:C0025362|SNOMED_CT:228156007|SNOMED_CT:91138005;DATES_ORDERED=2013-12-01
7 87072999 . G C . . START=87072999;STOP=87072999;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217883;RCV=RCV000201938;SCV=SCV000256879;ALLELE_ID=214536;SYMBOL=ABCB4;HGVS_C=NM_018849.2:c.1210C>G;HGVS_P=NP_061337.1:p.Pro404Ala;MOLECULAR_CONSEQUENCE=NM_018849.2:c.1210C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_25..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Progressive_familial_intrahepatic_cholestasis_3;ALL_PMIDS=17726488|9419367;ORIGIN=germline;XREFS=Genetic_Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351|Genetics_Home_Reference:progressive-familial-intrahepatic-cholestasis|MedGen:C1865643|OMIM:602347|Office_of_Rare_Diseases:1289|Orphanet:79305;DATES_ORDERED=2014-07-25
7 87082365 . C T . . START=87082365;STOP=87082365;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217883;RCV=RCV000201938;SCV=SCV000256879;ALLELE_ID=214537;SYMBOL=ABCB4;HGVS_C=NM_018849.2:c.431G>A;HGVS_P=NP_061337.1:p.Arg144Gln;MOLECULAR_CONSEQUENCE=NM_018849.2:c.431G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_25..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Progressive_familial_intrahepatic_cholestasis_3;ALL_PMIDS=17726488|9419367;ORIGIN=germline;XREFS=Genetic_Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351|Genetics_Home_Reference:progressive-familial-intrahepatic-cholestasis|MedGen:C1865643|OMIM:602347|Office_of_Rare_Diseases:1289|Orphanet:79305;DATES_ORDERED=2014-07-25
7 107336408 . A C . . START=107336408;STOP=107336408;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=4816;RCV=RCV000005085;SCV=SCV000025261;ALLELE_ID=38434;SYMBOL=SLC26A4;HGVS_C=NM_000441.1:c.1468A>C;HGVS_P=NP_000432.1:p.Ile490Leu;MOLECULAR_CONSEQUENCE=NM_000441.1:c.1468A>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome|DEAFNESS..AUTOSOMAL_RECESSIVE_4..WITH_ENLARGED_VESTIBULAR_AQUEDUCT;ALL_PMIDS=18310264|20301607|20301640|9500541;ORIGIN=germline;XREFS=GeneReviews:NBK1467|Genetic_Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542|Genetic_Testing_Registry_(GTR):GTR000500213|MedGen:C1863752|OMIM:600791|OMIM:601093.0001|OMIM:601093.0002|OMIM:602208.0008|OMIM:602208.0009|OMIM:605646.0004|OMIM:605646.0009|OMIM:605646.0010|OMIM:605646.0011|OMIM:605646.0012|OMIM:605646.0013|OMIM:605646.0014|OMIM:605646.0015|OMIM:605646.0027|OMIM:605646.0028|OMIM:605646.0029|OMIM:605646.0030|OMIM:605646.0031|Office_of_Rare_Diseases:8651|Orphanet:90636;DATES_ORDERED=2008-07-01
7 107336429 . G A . . START=107336429;STOP=107336429;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=4816;RCV=RCV000005085;SCV=SCV000025261;ALLELE_ID=19855;SYMBOL=SLC26A4;HGVS_C=NM_000441.1:c.1489G>A;HGVS_P=NP_000432.1:p.Gly497Ser;MOLECULAR_CONSEQUENCE=NM_000441.1:c.1489G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome|DEAFNESS..AUTOSOMAL_RECESSIVE_4..WITH_ENLARGED_VESTIBULAR_AQUEDUCT;ALL_PMIDS=18310264|20301607|20301640|9500541;ORIGIN=germline;XREFS=GeneReviews:NBK1467|Genetic_Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542|Genetic_Testing_Registry_(GTR):GTR000500213|MedGen:C1863752|OMIM:600791|OMIM:601093.0001|OMIM:601093.0002|OMIM:602208.0008|OMIM:602208.0009|OMIM:605646.0004|OMIM:605646.0009|OMIM:605646.0010|OMIM:605646.0011|OMIM:605646.0012|OMIM:605646.0013|OMIM:605646.0014|OMIM:605646.0015|OMIM:605646.0027|OMIM:605646.0028|OMIM:605646.0029|OMIM:605646.0030|OMIM:605646.0031|Office_of_Rare_Diseases:8651|Orphanet:90636;DATES_ORDERED=2008-07-01
7 117171029 . G A . . START=117171029;STOP=117171029;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=209047;RCV=RCV000190992;SCV=SCV000245925;ALLELE_ID=22148;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.350G>A;HGVS_P=NP_000483.3:p.Arg117His;MOLECULAR_CONSEQUENCE=NM_000492.3:c.350G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=practice_guideline;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=May_22..2017;ALL_SUBMITTERS=CFTR2;SUBMITTERS_ORDERED=CFTR2;ALL_TRAITS=Cystic_fibrosis|Cystic_fibrosis;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|23974870|24014130|25431289|25981758;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=0000-00-00
7 117180359 . C A . . START=117180359;STOP=117180359;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=40200;RCV=RCV000007589;SCV=SCV000027790;ALLELE_ID=22208;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.1075C>A;HGVS_P=NP_000483.3:p.Gln359Lys;MOLECULAR_CONSEQUENCE=NM_000492.3:c.1075C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|7679367;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=1993-01-01
7 117180363 . C A . . START=117180363;STOP=117180363;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=40200;RCV=RCV000007589;SCV=SCV000027790;ALLELE_ID=38441;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.1079C>A;HGVS_P=NP_000483.3:p.Thr360Lys;MOLECULAR_CONSEQUENCE=NM_000492.3:c.1079C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|7679367;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=1993-01-01
7 117243663 . C T . . START=117243663;STOP=117243663;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7239;RCV=RCV000007661;SCV=SCV000027862;ALLELE_ID=22244;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.2735C>T;HGVS_P=NP_000483.3:p.Ser912Leu;MOLECULAR_CONSEQUENCE=NM_000492.3:c.2735C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15744523|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|8528204;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=2005-05-01
7 117282505 . G T . . START=117282505;STOP=117282505;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7239;RCV=RCV000007661;SCV=SCV000027862;ALLELE_ID=22278;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.3731G>T;HGVS_P=NP_000483.3:p.Gly1244Val;MOLECULAR_CONSEQUENCE=NM_000492.3:c.3731G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15744523|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|8528204;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=2005-05-01
8 1719428 . C T . . START=1719428;STOP=1719428;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217887;RCV=RCV000201947;SCV=SCV000256883;ALLELE_ID=214538;SYMBOL=CLN8;HGVS_C=NM_018941.3:c.208C>T;HGVS_P=NP_061764.2:p.Arg70Cys;MOLECULAR_CONSEQUENCE=NM_018941.3:c.208C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=16570191|20301601;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264;DATES_ORDERED=2014-08-18
8 1728664 . C G . . START=1728664;STOP=1728664;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217887;RCV=RCV000201947;SCV=SCV000256883;ALLELE_ID=106601;SYMBOL=CLN8;HGVS_C=NM_018941.3:c.792C>G;HGVS_P=NP_061764.2:p.Asn264Lys;MOLECULAR_CONSEQUENCE=NM_018941.3:c.792C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=16570191|20301601;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264;DATES_ORDERED=2014-08-18
8 30922450 . A T . . START=30922450;STOP=30922450;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5453;RCV=RCV000005786;SCV=SCV000025968;ALLELE_ID=20492;SYMBOL=WRN;HGVS_C=NM_000553.5:c.375A>T;HGVS_P=NP_000544.2:p.Lys125Asn;MOLECULAR_CONSEQUENCE=NM_000553.5:c.375A>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Werner_syndrome|WERNER_SYNDROME;ALL_PMIDS=16673358|20301687|22258520;ORIGIN=germline;XREFS=GeneReviews:NBK1514|Genetic_Alliance:Werner%27s+syndrome/7471|Genetics_Home_Reference:werner-syndrome|MedGen:C0043119|OMIM:277700|Office_of_Rare_Diseases:7885|Orphanet:902|SNOMED_CT:51626007;DATES_ORDERED=2006-06-01
8 30922478 . A G . . START=30922478;STOP=30922478;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5453;RCV=RCV000005786;SCV=SCV000025968;ALLELE_ID=38386;SYMBOL=WRN;HGVS_C=NM_000553.5:c.403A>G;HGVS_P=NP_000544.2:p.Lys135Glu;MOLECULAR_CONSEQUENCE=NM_000553.5:c.403A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Werner_syndrome|WERNER_SYNDROME;ALL_PMIDS=16673358|20301687|22258520;ORIGIN=germline;XREFS=GeneReviews:NBK1514|Genetic_Alliance:Werner%27s+syndrome/7471|Genetics_Home_Reference:werner-syndrome|MedGen:C0043119|OMIM:277700|Office_of_Rare_Diseases:7885|Orphanet:902|SNOMED_CT:51626007;DATES_ORDERED=2006-06-01
8 38271684 . G C . . START=38271684;STOP=38271684;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16292;RCV=RCV000030930;SCV=SCV000037962;ALLELE_ID=38475;SYMBOL=FGFR1;HGVS_C=NM_023110.2:c.2172C>G;HGVS_P=NP_075598.2:p.Asn724Lys;MOLECULAR_CONSEQUENCE=NM_023110.2:c.2172C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_18..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Kallmann_syndrome_2|HYPOGONADOTROPIC_HYPOGONADISM_2_WITHOUT_ANOSMIA..SUSCEPTIBILITY_TO;ALL_PMIDS=16606836|20301509;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Endocrinology_Clinic..Seth_G.S._Medical_College:FGFR1sn_4|GeneReviews:NBK1334|Genetic_Alliance:Kallmann+syndrome+2/3947|Genetic_Testing_Registry_(GTR):GTR000508944|Genetic_Testing_Registry_(GTR):GTR000511562|Genetic_Testing_Registry_(GTR):GTR000511608|Genetic_Testing_Registry_(GTR):GTR000511609|Genetic_Testing_Registry_(GTR):GTR000511610|Genetic_Testing_Registry_(GTR):GTR000511611|Genetic_Testing_Registry_(GTR):GTR000511612|Genetic_Testing_Registry_(GTR):GTR000511613|Genetic_Testing_Registry_(GTR):GTR000512869|Genetic_Testing_Registry_(GTR):GTR000556729|Genetic_Testing_Registry_(GTR):GTR000556731|Genetic_Testing_Registry_(GTR):GTR000558347|MedGen:C1563720|OMIM:136350.0004|OMIM:136350.0013|OMIM:136350.0014|OMIM:136350.0015|OMIM:136350.0016|OMIM:136350.0020|OMIM:136350.0023|OMIM:136350.0024|OMIM:136350.0025|OMIM:147950|Office_of_Rare_Diseases:3070|Orphanet:478;DATES_ORDERED=2006-04-18
8 38271691 . G T . . START=38271691;STOP=38271691;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16292;RCV=RCV000030930;SCV=SCV000037962;ALLELE_ID=31331;SYMBOL=FGFR1;HGVS_C=NM_023110.2:c.2165C>A;HGVS_P=NP_075598.2:p.Pro722His;MOLECULAR_CONSEQUENCE=NM_023110.2:c.2165C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_18..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Kallmann_syndrome_2|HYPOGONADOTROPIC_HYPOGONADISM_2_WITHOUT_ANOSMIA..SUSCEPTIBILITY_TO;ALL_PMIDS=16606836|20301509;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Endocrinology_Clinic..Seth_G.S._Medical_College:FGFR1sn_4|GeneReviews:NBK1334|Genetic_Alliance:Kallmann+syndrome+2/3947|Genetic_Testing_Registry_(GTR):GTR000508944|Genetic_Testing_Registry_(GTR):GTR000511562|Genetic_Testing_Registry_(GTR):GTR000511608|Genetic_Testing_Registry_(GTR):GTR000511609|Genetic_Testing_Registry_(GTR):GTR000511610|Genetic_Testing_Registry_(GTR):GTR000511611|Genetic_Testing_Registry_(GTR):GTR000511612|Genetic_Testing_Registry_(GTR):GTR000511613|Genetic_Testing_Registry_(GTR):GTR000512869|Genetic_Testing_Registry_(GTR):GTR000556729|Genetic_Testing_Registry_(GTR):GTR000556731|Genetic_Testing_Registry_(GTR):GTR000558347|MedGen:C1563720|OMIM:136350.0004|OMIM:136350.0013|OMIM:136350.0014|OMIM:136350.0015|OMIM:136350.0016|OMIM:136350.0020|OMIM:136350.0023|OMIM:136350.0024|OMIM:136350.0025|OMIM:147950|Office_of_Rare_Diseases:3070|Orphanet:478;DATES_ORDERED=2006-04-18
8 143994266 . A G . . START=143994266;STOP=143994266;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16876|16877;RCV=RCV000018372|RCV000018373;SCV=SCV000038654|SCV000038655;ALLELE_ID=31916;SYMBOL=CYP11B2;HGVS_C=NM_000498.3:c.1157T>C;HGVS_P=NP_000489.3:p.Val386Ala;MOLECULAR_CONSEQUENCE=NM_000498.3:c.1157T>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_2_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_II_DEFICIENCY|Corticosterone_methyloxidase_type_1_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_I_DEFICIENCY;ALL_PMIDS=1346492|1594605|3262827|4121586|830445|838841|9814506;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102|Genetic_Testing_Registry_(GTR):GTR000500407|Genetics_Home_Reference:corticosterone-methyloxidase-deficiency|MedGen:C3463917|OMIM:610600|Orphanet:427|Genetic_Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101|Genetic_Testing_Registry_(GTR):GTR000507687|MedGen:CN074214|OMIM:203400|Office_of_Rare_Diseases:5660;DATES_ORDERED=1992-06-01|1998-11-01
8 143996463 . T G . . START=143996463;STOP=143996463;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16877;RCV=RCV000018373;SCV=SCV000038655;ALLELE_ID=38484;SYMBOL=CYP11B2;HGVS_C=NM_000498.3:c.594A>C;HGVS_P=NP_000489.3:p.Glu198Asp;MOLECULAR_CONSEQUENCE=NM_000498.3:c.594A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_1_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_I_DEFICIENCY;ALL_PMIDS=9814506;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101|Genetic_Testing_Registry_(GTR):GTR000500407|Genetic_Testing_Registry_(GTR):GTR000507687|Genetics_Home_Reference:corticosterone-methyloxidase-deficiency|MedGen:CN074214|OMIM:203400|Office_of_Rare_Diseases:5660|Orphanet:427;DATES_ORDERED=1998-11-01
8 143996516 . G A . . START=143996516;STOP=143996516;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16876;RCV=RCV000018372;SCV=SCV000038654;ALLELE_ID=31915;SYMBOL=CYP11B2;HGVS_C=NM_000498.3:c.541C>T;HGVS_P=NP_000489.3:p.Arg181Trp;MOLECULAR_CONSEQUENCE=NM_000498.3:c.541C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_2_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_II_DEFICIENCY;ALL_PMIDS=1346492|1594605|3262827|4121586|830445|838841;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102|Genetic_Testing_Registry_(GTR):GTR000500407|Genetics_Home_Reference:corticosterone-methyloxidase-deficiency|MedGen:C3463917|OMIM:610600|Orphanet:427;DATES_ORDERED=1992-06-01
9 2115860 . G C . . START=2115860;STOP=2115860;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=374221;RCV=RCV000415335;SCV=SCV000493071;ALLELE_ID=361134;SYMBOL=SMARCA2;HGVS_C=NM_003070.4:c.3495G>C;HGVS_P=NP_003061.3:p.Gln1165His;MOLECULAR_CONSEQUENCE=NM_003070.4:c.3495G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..CHU_RENNES;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..CHU_RENNES;ALL_TRAITS=Nicolaides-Baraitser_syndrome|Nicolaides_Baraitser_syndrome;ALL_PMIDS=26468571;ORIGIN=de_novo;XREFS=GeneReviews:NBK321516|Genetic_Alliance:Nicolaides+Baraitser+syndrome/5221|Genetics_Home_Reference:nicolaides-baraitser-syndrome|MedGen:C1303073|OMIM:601358|Orphanet:3051|SNOMED_CT:401046009;DATES_ORDERED=0000-00-00
9 2123873 . G A . . START=2123873;STOP=2123873;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=374221;RCV=RCV000415335;SCV=SCV000493071;ALLELE_ID=361135;SYMBOL=SMARCA2;HGVS_C=NM_003070.4:c.3917G>A;HGVS_P=NP_003061.3:p.Arg1306Lys;MOLECULAR_CONSEQUENCE=NM_003070.4:c.3917G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..CHU_RENNES;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..CHU_RENNES;ALL_TRAITS=Nicolaides-Baraitser_syndrome|Nicolaides_Baraitser_syndrome;ALL_PMIDS=26468571;ORIGIN=de_novo;XREFS=GeneReviews:NBK321516|Genetic_Alliance:Nicolaides+Baraitser+syndrome/5221|Genetics_Home_Reference:nicolaides-baraitser-syndrome|MedGen:C1303073|OMIM:601358|Orphanet:3051|SNOMED_CT:401046009;DATES_ORDERED=0000-00-00
9 34646572 . CCAGT C . . START=34646583;STOP=34646586;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=140570;RCV=RCV000128642;SCV=SCV000148002;ALLELE_ID=36445;SYMBOL=GALT;HGVS_C=NM_000155.3:c.-67-52_-67-49delGTCA;MOLECULAR_CONSEQUENCE=NM_000155.3:c.-119_-116del:2KB_upstream_variant|NM_000155.3:c.-67-52_-67-49delGTCA:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_05..2017;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase;ALL_PMIDS=10408771|10424825|10649501|11216901|11286503|11754113|15633893|15841485|16838075|19224951|2011574|20301691|22475884|25473725;ORIGIN=germline;XREFS=GeneReviews:NBK1518|Genetic_Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206|MedGen:C0268151|OMIM:230400|Office_of_Rare_Diseases:2424|Orphanet:352|Orphanet:79239|SNOMED_CT:124354006;DATES_ORDERED=2014-04-03
9 34648418 . C T . . START=34648418;STOP=34648418;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3620;RCV=RCV000003804;SCV=SCV000023969;ALLELE_ID=18659;SYMBOL=GALT;HGVS_C=NM_000155.3:c.652C>T;HGVS_P=NP_000146.2:p.Leu218_eq_;MOLECULAR_CONSEQUENCE=NM_000155.3:c.652C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=GALT_POLYMORPHISM_(LOS_ANGELES..D1)|GALT_POLYMORPHISM_(LOS_ANGELES..D1);ALL_PMIDS=10408771|10424825|19224951|2011574|4759900|8522334|9012409;ORIGIN=germline;XREFS=OMIM:606999.0012;DATES_ORDERED=2009-05-01
9 34649442 . A G . . START=34649442;STOP=34649442;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=140570|3620;RCV=RCV000128642|RCV000003804;SCV=SCV000148002|SCV000023969;ALLELE_ID=18652;SYMBOL=GALT;HGVS_C=NM_000155.3:c.940A>G;HGVS_P=NP_000146.2:p.Asn314Asp;MOLECULAR_CONSEQUENCE=NM_000155.3:c.940A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|benign;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_09..2017;ALL_SUBMITTERS=GeneReviews|OMIM;SUBMITTERS_ORDERED=GeneReviews|OMIM;ALL_TRAITS=Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|GALT_POLYMORPHISM_(LOS_ANGELES..D1);ALL_PMIDS=10408771|10424825|10649501|11216901|11286503|11754113|15633893|15841485|16838075|19224951|2011574|20301691|22475884|25473725|4759900|8522334|9012409;ORIGIN=germline;XREFS=GeneReviews:NBK1518|Genetic_Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206|MedGen:C0268151|OMIM:230400|Office_of_Rare_Diseases:2424|Orphanet:352|Orphanet:79239|SNOMED_CT:124354006|OMIM:606999.0012;DATES_ORDERED=2014-04-03|2009-05-01
9 37424827 . TCC T . . START=37424829;STOP=37424830;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204246;RCV=RCV000186453;SCV=SCV000239808;ALLELE_ID=200618;SYMBOL=GRHPR;HGVS_C=NM_012203.1:c.84-13_84-12delCC;MOLECULAR_CONSEQUENCE=NM_012203.1:c.84-13_84-12delCC:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_II|Primary_hyperoxaluria..type_II;ALL_PMIDS=14635115|20301742;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK2692|Genetic_Alliance:Primary+hyperoxaluria+type+2/5948|Genetic_Testing_Registry_(GTR):GTR000118462|Genetic_Testing_Registry_(GTR):GTR000507682|Genetic_Testing_Registry_(GTR):GTR000522211|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268165|OMIM:260000|Office_of_Rare_Diseases:2836|Orphanet:416|Orphanet:93599|SNOMED_CT:40951006;DATES_ORDERED=2014-11-27
9 37424833 . TCCCC T . . START=37424834;STOP=37424837;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204246;RCV=RCV000186453;SCV=SCV000239808;ALLELE_ID=200619;SYMBOL=GRHPR;HGVS_C=NM_012203.1:c.84-8_84-5delCCCC;MOLECULAR_CONSEQUENCE=NM_012203.1:c.84-8_84-5delCCCC:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_II|Primary_hyperoxaluria..type_II;ALL_PMIDS=14635115|20301742;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK2692|Genetic_Alliance:Primary+hyperoxaluria+type+2/5948|Genetic_Testing_Registry_(GTR):GTR000118462|Genetic_Testing_Registry_(GTR):GTR000507682|Genetic_Testing_Registry_(GTR):GTR000522211|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268165|OMIM:260000|Office_of_Rare_Diseases:2836|Orphanet:416|Orphanet:93599|SNOMED_CT:40951006;DATES_ORDERED=2014-11-27
9 101340316 . T C . . START=101340316;STOP=101340316;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3331;RCV=RCV000003495;SCV=SCV000023653;ALLELE_ID=18370;SYMBOL=GABBR2;HGVS_C=NM_005458.7:c.360A>G;HGVS_P=NP_005449.5:p.Ala120_eq_;MOLECULAR_CONSEQUENCE=NM_005458.7:c.360A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_09..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Tobacco_addiction..susceptibility_to|NICOTINE_DEPENDENCE..SUSCEPTIBILITY_TO;ALL_PMIDS=15759211;ORIGIN=germline;XREFS=Genetic_Alliance:Tobacco+addiction%2C+susceptibility+to/9410|MedGen:C1861063|OMIM:188890|OMIM:607340.0001|OMIM:607340.0002;DATES_ORDERED=2010-06-09
9 127262853 . G A . . START=127262853;STOP=127262853;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12809;RCV=RCV000013657|RCV000022775;SCV=SCV000033904|SCV000044064;ALLELE_ID=38458;SYMBOL=NR5A1;HGVS_C=NM_004959.4:c.386C>T;HGVS_P=NP_004950.2:p.Pro129Leu;MOLECULAR_CONSEQUENCE=NM_004959.4:c.386C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_08..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Premature_ovarian_failure_7|PREMATURE_OVARIAN_FAILURE_7|Spermatogenic_failure_8;ALL_PMIDS=19246354|20887963;ORIGIN=germline;XREFS=Genetic_Alliance:Premature+ovarian+failure+7/9153|MedGen:C2751825|OMIM:612964|Genetic_Alliance:Spermatogenic+failure+8/9327|MedGen:C3151406|OMIM:613957;DATES_ORDERED=2010-10-08
9 127262871 . C G . . START=127262871;STOP=127262871;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12809;RCV=RCV000013657|RCV000022775;SCV=SCV000033904|SCV000044064;ALLELE_ID=27848;SYMBOL=NR5A1;HGVS_C=NM_004959.4:c.368G>C;HGVS_P=NP_004950.2:p.Gly123Ala;MOLECULAR_CONSEQUENCE=NM_004959.4:c.368G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_08..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Premature_ovarian_failure_7|PREMATURE_OVARIAN_FAILURE_7|Spermatogenic_failure_8;ALL_PMIDS=19246354|20887963;ORIGIN=germline;XREFS=Genetic_Alliance:Premature+ovarian+failure+7/9153|MedGen:C2751825|OMIM:612964|Genetic_Alliance:Spermatogenic+failure+8/9327|MedGen:C3151406|OMIM:613957;DATES_ORDERED=2010-10-08
9 135203176 . G A . . START=135203176;STOP=135203176;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157525;RCV=RCV000144869;SCV=SCV000172140;ALLELE_ID=167387;SYMBOL=SETX;HGVS_C=NM_015046.5:c.3809C>T;HGVS_P=NP_055861.3:p.Pro1270Leu;MOLECULAR_CONSEQUENCE=NM_015046.5:c.3809C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01
9 135203908 . C CTCA . . START=135203909;STOP=135203910;VARIATION_TYPE=Distinct_chromosomes;VARIATION_ID=157528;RCV=RCV000144873;SCV=SCV000172145;ALLELE_ID=167390;SYMBOL=REEP1;HGVS_C=NM_015046.5:c.3075_3076insTGA;HGVS_P=NP_055861.3:p.Arg1026_Lys1360delinsTer;MOLECULAR_CONSEQUENCE=NM_015046.5:c.3075_3076insTGA:inframe_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2013;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|spasticity|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01
9 135224757 . C T . . START=135224757;STOP=135224757;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157525;RCV=RCV000144869;SCV=SCV000172140;ALLELE_ID=167386;SYMBOL=SETX;HGVS_C=NM_015046.5:c.59G>A;HGVS_P=NP_055861.3:p.Arg20His;MOLECULAR_CONSEQUENCE=NM_015046.5:c.59G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_06..2016;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01
9 136131315 . C G . . START=136131315;STOP=136131315;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17738;RCV=RCV000019312;SCV=SCV000039601;ALLELE_ID=38414;SYMBOL=ABO;HGVS_C=NM_020469.2:c.803G>C;HGVS_P=NP_065202.2:p.Gly268Ala;MOLECULAR_CONSEQUENCE=NM_020469.2:c.803G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=association;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=ABO_blood_group_system|ABO_BLOOD_GROUP_SYSTEM..CIS-AB_PHENOTYPE;ALL_PMIDS=14170898|6775529|8456556;ORIGIN=germline;XREFS=MedGen:C0000778|OMIM:110300.0001|OMIM:110300.0002|OMIM:110300.0003|OMIM:110300.0004|OMIM:110300.0005|OMIM:616093|SNOMED_CT:63915006;DATES_ORDERED=2015-05-18
9 136131651 . G A . . START=136131651;STOP=136131651;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17738;RCV=RCV000019312;SCV=SCV000039601;ALLELE_ID=32777;SYMBOL=ABO;HGVS_C=NM_020469.2:c.467C>T;HGVS_P=NP_065202.2:p.Pro156Leu;MOLECULAR_CONSEQUENCE=NM_020469.2:c.467C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=association;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=ABO_blood_group_system|ABO_BLOOD_GROUP_SYSTEM..CIS-AB_PHENOTYPE;ALL_PMIDS=14170898|6775529|8456556;ORIGIN=germline;XREFS=MedGen:C0000778|OMIM:110300.0001|OMIM:110300.0002|OMIM:110300.0003|OMIM:110300.0004|OMIM:110300.0005|OMIM:616093|SNOMED_CT:63915006;DATES_ORDERED=2015-05-18
9 136301982 . C G . . START=136301982;STOP=136301982;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5813;RCV=RCV000006169;SCV=SCV000026351;ALLELE_ID=20852;SYMBOL=ADAMTS13;HGVS_C=NM_139025.4:c.1342C>G;HGVS_P=NP_620594.1:p.Gln448Glu;MOLECULAR_CONSEQUENCE=NM_139025.4:c.1342C>G:missense_variant|NR_024514.2:n.993-2504C>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Upshaw-Schulman_syndrome|THROMBOTIC_THROMBOCYTOPENIC_PURPURA..CONGENITAL;ALL_PMIDS=12181489;ORIGIN=germline;XREFS=Genetic_Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089|Genetics_Home_Reference:thrombotic-thrombocytopenic-purpura|MedGen:C1268935|OMIM:274150|Office_of_Rare_Diseases:9430|SNOMED_CT:373420004;DATES_ORDERED=2002-09-03
9 136302956 . G A . . START=136302956;STOP=136302956;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5813;RCV=RCV000006169;SCV=SCV000026351;ALLELE_ID=38438;SYMBOL=ADAMTS13;HGVS_C=NM_139025.4:c.1523G>A;HGVS_P=NP_620594.1:p.Cys508Tyr;MOLECULAR_CONSEQUENCE=NM_139025.4:c.1523G>A:missense_variant|NR_024514.2:n.993-1530G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_03..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Upshaw-Schulman_syndrome|THROMBOTIC_THROMBOCYTOPENIC_PURPURA..CONGENITAL;ALL_PMIDS=12181489;ORIGIN=germline;XREFS=Genetic_Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089|Genetics_Home_Reference:thrombotic-thrombocytopenic-purpura|MedGen:C1268935|OMIM:274150|Office_of_Rare_Diseases:9430|SNOMED_CT:373420004;DATES_ORDERED=2002-09-03
9 136501794 . G A . . START=136501794;STOP=136501794;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1752;RCV=RCV000001822;SCV=SCV000021978;ALLELE_ID=16791;SYMBOL=DBH;HGVS_C=NM_000787.3:c.301G>A;HGVS_P=NP_000778.3:p.Val101Met;MOLECULAR_CONSEQUENCE=NM_000787.3:c.301G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_29..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dopamine_beta_hydroxylase_deficiency|DOPAMINE_BETA-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11857564|20301647;ORIGIN=germline;XREFS=GeneReviews:NBK1474|Genetic_Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316|MedGen:C1857209|OMIM:223360|Office_of_Rare_Diseases:1903|Orphanet:230;DATES_ORDERED=2002-03-01
9 136512976 . G A . . START=136512976;STOP=136512976;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1752;RCV=RCV000001822;SCV=SCV000021978;ALLELE_ID=38418;SYMBOL=DBH;HGVS_C=NM_000787.3:c.1033G>A;HGVS_P=NP_000778.3:p.Asp345Asn;MOLECULAR_CONSEQUENCE=NM_000787.3:c.1033G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_29..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dopamine_beta_hydroxylase_deficiency|DOPAMINE_BETA-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11857564|20301647;ORIGIN=germline;XREFS=GeneReviews:NBK1474|Genetic_Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316|MedGen:C1857209|OMIM:223360|Office_of_Rare_Diseases:1903|Orphanet:230;DATES_ORDERED=2002-03-01
10 43609944 . G C . . START=43609944;STOP=43609944;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13906;RCV=RCV000014920;SCV=SCV000035176;ALLELE_ID=28945;SYMBOL=RET;HGVS_C=NM_020975.4:c.1896G>C;HGVS_P=NP_066124.1:p.Glu632Asp;MOLECULAR_CONSEQUENCE=NM_020975.4:c.1896G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1994;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2a|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIA;ALL_PMIDS=11739416|19469690|20301434|21863057|23788249|24893135|25356965|25394175|27854360|3078962|7907913|8099202|8103403|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|MeSH:D018813|MedGen:C0025268|OMIM:164761.0001|OMIM:164761.0002|OMIM:164761.0003|OMIM:164761.0004|OMIM:164761.0005|OMIM:164761.0006|OMIM:164761.0007|OMIM:164761.0008|OMIM:164761.0009|OMIM:164761.0010|OMIM:164761.0011|OMIM:164761.0012|OMIM:164761.0024|OMIM:164761.0025|OMIM:164761.0033|OMIM:164761.0040|OMIM:164761.0047|OMIM:164761.0049|OMIM:171400|Orphanet:653|SNOMED_CT:61808009;DATES_ORDERED=1994-01-01
10 43609945 . C G . . START=43609945;STOP=43609945;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13906;RCV=RCV000014920;SCV=SCV000035176;ALLELE_ID=38399;SYMBOL=RET;HGVS_C=NM_020975.4:c.1897C>G;HGVS_P=NP_066124.1:p.Leu633Val;MOLECULAR_CONSEQUENCE=NM_020975.4:c.1897C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2a|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIA;ALL_PMIDS=11739416|19469690|20301434|21863057|23788249|24893135|25356965|25394175|27854360|3078962|7907913|8099202|8103403|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|MeSH:D018813|MedGen:C0025268|OMIM:164761.0001|OMIM:164761.0002|OMIM:164761.0003|OMIM:164761.0004|OMIM:164761.0005|OMIM:164761.0006|OMIM:164761.0007|OMIM:164761.0008|OMIM:164761.0009|OMIM:164761.0010|OMIM:164761.0011|OMIM:164761.0012|OMIM:164761.0024|OMIM:164761.0025|OMIM:164761.0033|OMIM:164761.0040|OMIM:164761.0047|OMIM:164761.0049|OMIM:171400|Orphanet:653|SNOMED_CT:61808009;DATES_ORDERED=1994-01-01
10 43609948 . T C . . START=43609948;STOP=43609948;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13906;RCV=RCV000014920;SCV=SCV000035176;ALLELE_ID=28956;SYMBOL=RET;HGVS_C=NM_020975.4:c.1900T>C;HGVS_P=NP_066124.1:p.Cys634Arg;MOLECULAR_CONSEQUENCE=NM_020975.4:c.1900T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2a|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIA;ALL_PMIDS=11739416|19469690|20301434|21863057|23788249|24893135|25356965|25394175|27854360|3078962|7907913|8099202|8103403|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|MeSH:D018813|MedGen:C0025268|OMIM:164761.0001|OMIM:164761.0002|OMIM:164761.0003|OMIM:164761.0004|OMIM:164761.0005|OMIM:164761.0006|OMIM:164761.0007|OMIM:164761.0008|OMIM:164761.0009|OMIM:164761.0010|OMIM:164761.0011|OMIM:164761.0012|OMIM:164761.0024|OMIM:164761.0025|OMIM:164761.0033|OMIM:164761.0040|OMIM:164761.0047|OMIM:164761.0049|OMIM:171400|Orphanet:653|SNOMED_CT:61808009;DATES_ORDERED=1994-01-01
10 43614996 . G A . . START=43614996;STOP=43614996;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13945;RCV=RCV000014972;SCV=SCV000035228;ALLELE_ID=28984;SYMBOL=RET;HGVS_C=NM_020975.4:c.2410G>A;HGVS_P=NP_066124.1:p.Val804Met;MOLECULAR_CONSEQUENCE=NM_020975.4:c.2410G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_13..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2b|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIB;ALL_PMIDS=11739416|11788682|19469690|20301434|21863057|23788249|24893135|25356965|27854360|8797874|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|MeSH:D018814|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001;DATES_ORDERED=2002-01-01
10 43615632 . C G . . START=43615632;STOP=43615632;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13945;RCV=RCV000014972;SCV=SCV000035228;ALLELE_ID=36303;SYMBOL=RET;HGVS_C=NM_020975.4:c.2711C>G;HGVS_P=NP_066124.1:p.Ser904Cys;MOLECULAR_CONSEQUENCE=NM_020975.4:c.2711C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2b|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIB;ALL_PMIDS=11739416|11788682|19469690|20301434|21863057|23788249|24893135|25356965|27854360|8797874|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|MeSH:D018814|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001;DATES_ORDERED=2002-01-01
10 64573251 . C A . . START=64573251;STOP=64573251;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16751;RCV=RCV000018235;SCV=SCV000038514;ALLELE_ID=38481;SYMBOL=EGR2;HGVS_C=NM_000399.4:c.1147G>T;HGVS_P=NP_000390.2:p.Asp383Tyr;MOLECULAR_CONSEQUENCE=NM_000399.4:c.1147G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_18..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Neuropathy..congenital_hypomyelinating..autosomal_dominant|NEUROPATHY..CONGENITAL_HYPOMYELINATING..AUTOSOMAL_DOMINANT;ALL_PMIDS=9537424;ORIGIN=germline;XREFS=MedGen:CN069993;DATES_ORDERED=1998-04-01
10 64573252 . A C . . START=64573252;STOP=64573252;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16751;RCV=RCV000018235;SCV=SCV000038514;ALLELE_ID=31790;SYMBOL=EGR2;HGVS_C=NM_000399.4:c.1146T>G;HGVS_P=NP_000390.2:p.Ser382Arg;MOLECULAR_CONSEQUENCE=NM_000399.4:c.1146T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_18..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Neuropathy..congenital_hypomyelinating..autosomal_dominant|NEUROPATHY..CONGENITAL_HYPOMYELINATING..AUTOSOMAL_DOMINANT;ALL_PMIDS=9537424;ORIGIN=germline;XREFS=MedGen:CN069993;DATES_ORDERED=1998-04-01
10 72643759 . C T . . START=72643759;STOP=72643759;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=180130;RCV=RCV000156929;SCV=SCV000206650;ALLELE_ID=178310;SYMBOL=PCBD1;HGVS_C=NM_000281.3:c.263G>A;HGVS_P=NP_000272.1:p.Arg88Gln;MOLECULAR_CONSEQUENCE=NM_000281.3:c.263G>A:missense_variant|NM_001323004.1:c.216+1150G>A:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperphenylalaninemia..BH4-deficient..D|HYPERPHENYLALANINEMIA..BH4-DEFICIENT..D;ALL_PMIDS=24848070|9760199;ORIGIN=germline;XREFS=Genetic_Alliance:Hyperphenylalaninemia+with+primapterinuria/3595|MedGen:C1849700|OMIM:264070|Orphanet:238583;DATES_ORDERED=2014-10-01
10 72645611 . C A . . START=72645611;STOP=72645611;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=180130;RCV=RCV000156929;SCV=SCV000206650;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperphenylalaninemia..BH4-deficient..D|HYPERPHENYLALANINEMIA..BH4-DEFICIENT..D;ALL_PMIDS=24848070|9760199;ORIGIN=germline;XREFS=Genetic_Alliance:Hyperphenylalaninemia+with+primapterinuria/3595|MedGen:C1849700|OMIM:264070|Orphanet:238583;DATES_ORDERED=2014-10-01
10 96073100 . T C . . START=96073100;STOP=96073100;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=266012;RCV=RCV000256386;SCV=SCV000323171;ALLELE_ID=260792;SYMBOL=PLCE1;HGVS_C=NM_016341.3:c.6093T>C;HGVS_P=NP_057425.3:p.Thr2031_eq_;MOLECULAR_CONSEQUENCE=NM_016341.3:c.6093T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Nephrotic_syndrome..type_3;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+3/8988|MedGen:C1853124|OMIM:610725|Orphanet:656;DATES_ORDERED=0000-00-00
10 96084728 . G A . . START=96084728;STOP=96084728;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=266012;RCV=RCV000256386;SCV=SCV000323171;ALLELE_ID=260793;SYMBOL=PLCE1;HGVS_C=NM_016341.3:c.6800G>A;HGVS_P=NP_057425.3:p.Arg2267Gln;MOLECULAR_CONSEQUENCE=NM_016341.3:c.6800G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Nephrotic_syndrome..type_3;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+3/8988|MedGen:C1853124|OMIM:610725|Orphanet:656;DATES_ORDERED=0000-00-00
10 96702047 . C T . . START=96702047;STOP=96702047;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=177709;RCV=RCV000154312;SCV=SCV000203973;ALLELE_ID=23448;SYMBOL=CYP2C9;HGVS_C=NM_000771.3:c.430C>T;HGVS_P=NP_000762.2:p.Arg144Cys;MOLECULAR_CONSEQUENCE=NM_000771.3:c.430C>T:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_28..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Warfarin_response|Warfarin_Metabolism;ALL_PMIDS=18281915|18281922|24251364|26186657;ORIGIN=germline;XREFS=Genetic_Alliance:Warfarin+response/9469|MedGen:CN078029|OMIM:122700|OMIM:122720.0001|OMIM:122720.0005|OMIM:608547.0002|OMIM:608547.0003|OMIM:608547.0004|OMIM:608547.0005|OMIM:608547.0007|PharmGKB:PA451906;DATES_ORDERED=2006-11-20
10 96741053 . A C . . START=96741053;STOP=96741053;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=163021;RCV=RCV000150378;SCV=SCV000197513;ALLELE_ID=23447;SYMBOL=CYP2C9;HGVS_C=NM_000771.3:c.1075A>C;HGVS_P=NP_000762.2:p.Ile359Leu;MOLECULAR_CONSEQUENCE=NM_000771.3:c.1075A>C:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_10..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Warfarin_response|Warfarin_Metabolism;ALL_PMIDS=18281915|18281922|24251364|26186657;ORIGIN=germline;XREFS=Genetic_Alliance:Warfarin+response/9469|MedGen:CN078029|OMIM:122700|OMIM:122720.0001|OMIM:122720.0005|OMIM:608547.0002|OMIM:608547.0003|OMIM:608547.0004|OMIM:608547.0005|OMIM:608547.0007|PharmGKB:PA451906;DATES_ORDERED=2006-11-20
10 120790050 . G A . . START=120790050;STOP=120790050;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65392;RCV=RCV000055619;SCV=SCV000083844;ALLELE_ID=76326;SYMBOL=NANOS1;HGVS_C=NM_199461.3:c.737G>A;HGVS_P=NP_955631.1:p.Arg246His;MOLECULAR_CONSEQUENCE=NM_199461.3:c.737G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spermatogenic_failure_12|SPERMATOGENIC_FAILURE_12;ALL_PMIDS=23315541;ORIGIN=germline;XREFS=MedGen:C3809427|OMIM:615413;DATES_ORDERED=2013-03-01
10 120790139 . CG TA . . START=120790139;STOP=120790140;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65392;RCV=RCV000055619;SCV=SCV000083844;ALLELE_ID=76327;SYMBOL=NANOS1;HGVS_C=NM_199461.3:c.826_827delCGinsTA;HGVS_P=NP_955631.1:p.Arg276Tyr;MOLECULAR_CONSEQUENCE=NM_199461.3:c.826_827delCGinsTA:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spermatogenic_failure_12|SPERMATOGENIC_FAILURE_12;ALL_PMIDS=23315541;ORIGIN=germline;XREFS=MedGen:C3809427|OMIM:615413;DATES_ORDERED=2013-03-01
10 135339605 . G C . . START=135339605;STOP=135339605;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16887;RCV=RCV000018383;SCV=SCV000038665;ALLELE_ID=136523;SYMBOL=CYP2E1;HGVS_C=NM_000773.3:c.-1295G>C;MOLECULAR_CONSEQUENCE=NM_000773.3:c.-1295G>C:2KB_upstream_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=CYP2E1*5B_ALLELE|CYP2E1*5B_ALLELE;ALL_PMIDS=10543395|1778977|19444287;ORIGIN=germline;XREFS=OMIM:124040.0001;DATES_ORDERED=2016-04-20
10 135339845 . C T . . START=135339845;STOP=135339845;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16887;RCV=RCV000018383;SCV=SCV000038665;ALLELE_ID=136524;SYMBOL=CYP2E1;HGVS_C=NM_000773.3:c.-1055C>T;MOLECULAR_CONSEQUENCE=NM_000773.3:c.-1055C>T:2KB_upstream_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=CYP2E1*5B_ALLELE|CYP2E1*5B_ALLELE;ALL_PMIDS=10543395|1778977|19444287;ORIGIN=germline;XREFS=OMIM:124040.0001;DATES_ORDERED=2016-04-20
11 5246839 . T A . . START=5246839;STOP=5246839;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15617;RCV=RCV000016884;SCV=SCV000037154;ALLELE_ID=38409;SYMBOL=HBB;HGVS_C=NM_000518.4:c.433A>T;HGVS_P=NP_000509.1:p.Lys145Ter;MOLECULAR_CONSEQUENCE=NM_000518.4:c.433A>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_KOCHI|HEMOGLOBIN_KOCHI;ALL_PMIDS=15768550;ORIGIN=germline;XREFS=OMIM:141900.0532;DATES_ORDERED=2016-07-20
11 5246844 . G A . . START=5246844;STOP=5246844;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15337;RCV=RCV000016580;SCV=SCV000036849;ALLELE_ID=38472;SYMBOL=HBB;HGVS_C=NM_000518.4:c.428C>T;HGVS_P=NP_000509.1:p.Ala143Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.428C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(TRAVIS)|HEMOGLOBIN_S_(TRAVIS);ALL_PMIDS=1634360|19257;ORIGIN=germline;XREFS=OMIM:141900.0247;DATES_ORDERED=1992-01-01
11 5246848 . G C . . START=5246848;STOP=5246848;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15617;RCV=RCV000016884;SCV=SCV000037154;ALLELE_ID=30656;SYMBOL=HBB;HGVS_C=NM_000518.4:c.424C>G;HGVS_P=NP_000509.1:p.Leu142Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.424C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_KOCHI|HEMOGLOBIN_KOCHI;ALL_PMIDS=15768550;ORIGIN=germline;XREFS=OMIM:141900.0532;DATES_ORDERED=2016-07-20
11 5246905 . A G . . START=5246905;STOP=5246905;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15581;RCV=RCV000016848;SCV=SCV000037118;ALLELE_ID=30619;SYMBOL=HBB;HGVS_C=NM_000518.4:c.367T>C;HGVS_P=NP_000509.1:p.Phe123Leu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.367T>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CASABLANCA|HEMOGLOBIN_CASABLANCA;ALL_PMIDS=10870883;ORIGIN=germline;XREFS=OMIM:141900.0493;DATES_ORDERED=2016-07-20
11 5246908 . C G . . START=5246908;STOP=5246908;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15366|15496|15591;RCV=RCV000016617|RCV000016758|RCV000016858;SCV=SCV000036886|SCV000037028|SCV000037128;ALLELE_ID=30191;SYMBOL=HBB;HGVS_C=NM_000518.4:c.364G>C;HGVS_P=NP_000509.1:p.Glu122Gln;MOLECULAR_CONSEQUENCE=NM_000518.4:c.364G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_T_(CAMBODIA)|HEMOGLOBIN_CLEVELAND|HEMOGLOBIN_D_(AGRI);ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136|1787096|11570725;ORIGIN=germline;XREFS=OMIM:141900.0276|OMIM:141900.0407|OMIM:141900.0502;DATES_ORDERED=2016-07-20
11 5246908 . C T . . START=5246908;STOP=5246908;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15335|15596;RCV=RCV000016577|RCV000016863;SCV=SCV000036846|SCV000037133;ALLELE_ID=30331;SYMBOL=HBB;HGVS_C=NM_000518.4:c.364G>A;HGVS_P=NP_000509.1:p.Glu122Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.364G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|other;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Sickle_cell-Hemoglobin_O_Arab_disease|HEMOGLOBIN_S_(OMAN)|HEMOGLOBIN_O_(TIBESTI);ALL_PMIDS=10203101|1112610|11179419|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|25052315|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244|11939508;ORIGIN=germline;XREFS=MedGen:C1264000|OMIM:141900.0245|SNOMED_CT:127048005|OMIM:141900.0507;DATES_ORDERED=1999-04-01|2016-07-20
11 5246913 . C T . . START=5246913;STOP=5246913;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15165|15262;RCV=RCV000016336|RCV000016486;SCV=SCV000036604|SCV000036754;ALLELE_ID=38469;SYMBOL=HBB;HGVS_C=NM_000518.4:c.359G>A;HGVS_P=NP_000509.1:p.Gly120Asp;MOLECULAR_CONSEQUENCE=NM_000518.4:c.359G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_MASUDA;ALL_PMIDS=20942|7852084|2634673;ORIGIN=germline;XREFS=OMIM:141900.0075|OMIM:141900.0172;DATES_ORDERED=2017-02-27|2016-07-20
11 5246929 . G T . . START=5246929;STOP=5246929;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15262;RCV=RCV000016486;SCV=SCV000036754;ALLELE_ID=30525;SYMBOL=HBB;HGVS_C=NM_000518.4:c.343C>A;HGVS_P=NP_000509.1:p.Leu115Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.343C>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MASUDA|HEMOGLOBIN_MASUDA;ALL_PMIDS=2634673;ORIGIN=germline;XREFS=OMIM:141900.0172;DATES_ORDERED=2016-07-20
11 5246938 . C G . . START=5246938;STOP=5246938;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15165;RCV=RCV000016336;SCV=SCV000036604;ALLELE_ID=30204;SYMBOL=HBB;HGVS_C=NM_000518.4:c.334G>C;HGVS_P=NP_000509.1:p.Val112Leu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.334G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_FANNIN-LUBBOCK;ALL_PMIDS=20942|7852084;ORIGIN=germline;XREFS=OMIM:141900.0075;DATES_ORDERED=2017-02-27
11 5247827 . C T . . START=5247827;STOP=5247827;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15541;RCV=RCV000016807;SCV=SCV000037077;ALLELE_ID=30280;SYMBOL=HBB;HGVS_C=NM_000518.4:c.295G>A;HGVS_P=NP_000509.1:p.Val99Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.295G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MEDICINE_LAKE|HEMOGLOBIN_MEDICINE_LAKE;ALL_PMIDS=7860732;ORIGIN=germline;XREFS=OMIM:141900.0452;DATES_ORDERED=2016-07-20
11 5247836 . T C . . START=5247836;STOP=5247836;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15098;RCV=RCV000016251;SCV=SCV000036519;ALLELE_ID=30317;SYMBOL=HBB;HGVS_C=NM_000518.4:c.286A>G;HGVS_P=NP_000509.1:p.Lys96Glu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.286A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_10..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ARLINGTON_PARK|HEMOGLOBIN_ARLINGTON_PARK;ALL_PMIDS=893139;ORIGIN=germline;XREFS=OMIM:141900.0010;DATES_ORDERED=2016-07-20
11 5247842 . A G . . START=5247842;STOP=5247842;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15496;RCV=RCV000016758;SCV=SCV000037028;ALLELE_ID=30336;SYMBOL=HBB;HGVS_C=NM_000518.4:c.280T>C;HGVS_P=NP_000509.1:p.Cys94Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.280T>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CLEVELAND|HEMOGLOBIN_CLEVELAND;ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|1787096|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0407;DATES_ORDERED=2016-07-20
11 5247844 . T G . . START=5247844;STOP=5247844;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15516;RCV=RCV000016780;SCV=SCV000037050;ALLELE_ID=30326;SYMBOL=HBB;HGVS_C=NM_000518.4:c.278A>C;HGVS_P=NP_000509.1:p.His93Pro;MOLECULAR_CONSEQUENCE=NM_000518.4:c.278A>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_DUINO|HEMOGLOBIN_DUINO;ALL_PMIDS=1511986;ORIGIN=germline;XREFS=OMIM:141900.0427;DATES_ORDERED=2016-07-20
11 5247851 . C T . . START=5247851;STOP=5247851;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15610;RCV=RCV000016877;SCV=SCV000037147;ALLELE_ID=30130;SYMBOL=HBB;HGVS_C=NM_000518.4:c.271G>A;HGVS_P=NP_000509.1:p.Glu91Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.271G>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(CAMEROON)|HEMOGLOBIN_S_(CAMEROON);ALL_PMIDS=15182055;ORIGIN=germline;XREFS=OMIM:141900.0521;DATES_ORDERED=2004-05-01
11 5247863 . C G . . START=5247863;STOP=5247863;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15313;RCV=RCV000016553;SCV=SCV000036821;ALLELE_ID=30650;SYMBOL=HBB;HGVS_C=NM_000518.4:c.259G>C;HGVS_P=NP_000509.1:p.Ala87Pro;MOLECULAR_CONSEQUENCE=NM_000518.4:c.259G>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_POISSY|HEMOGLOBIN_POISSY;ALL_PMIDS=3841063;ORIGIN=germline;XREFS=OMIM:141900.0223;DATES_ORDERED=2016-07-20
11 5247902 . C T . . START=5247902;STOP=5247902;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15127;RCV=RCV000016286;SCV=SCV000036554;ALLELE_ID=30283;SYMBOL=HBB;HGVS_C=NM_000518.4:c.220G>A;HGVS_P=NP_000509.1:p.Asp74Asn;MOLECULAR_CONSEQUENCE=NM_000518.4:c.220G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(GEORGETOWN);ALL_PMIDS=13943409|5069596|5490239|5928902;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040;DATES_ORDERED=2017-02-27
11 5247917 . G A . . START=5247917;STOP=5247917;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15612;RCV=RCV000016879;SCV=SCV000037149;ALLELE_ID=30652;SYMBOL=HBB;HGVS_C=NM_000518.4:c.205C>T;HGVS_P=NP_000509.1:p.Leu69Phe;MOLECULAR_CONSEQUENCE=NM_000518.4:c.205C>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_JAMAICA_PLAIN|HEMOGLOBIN_JAMAICA_PLAIN;ALL_PMIDS=15470216|6166632;ORIGIN=germline;XREFS=OMIM:141900.0523;DATES_ORDERED=2017-02-27
11 5247925 . T A . . START=5247925;STOP=5247925;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15581;RCV=RCV000016848;SCV=SCV000037118;ALLELE_ID=30250;SYMBOL=HBB;HGVS_C=NM_000518.4:c.197A>T;HGVS_P=NP_000509.1:p.Lys66Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.197A>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CASABLANCA|HEMOGLOBIN_CASABLANCA;ALL_PMIDS=10870883;ORIGIN=germline;XREFS=OMIM:141900.0493;DATES_ORDERED=2016-07-20
11 5247946 . G C . . START=5247946;STOP=5247946;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15128;RCV=RCV000030905;SCV=SCV000036556;ALLELE_ID=30437;SYMBOL=HBB;HGVS_C=NM_000518.4:c.176C>G;HGVS_P=NP_000509.1:p.Pro59Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.176C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(ZIGUINCHOR);ALL_PMIDS=1225575|893143;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040;DATES_ORDERED=2016-07-20
11 5247953 . C G . . START=5247953;STOP=5247953;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15313;RCV=RCV000016553;SCV=SCV000036821;ALLELE_ID=30227;SYMBOL=HBB;HGVS_C=NM_000518.4:c.169G>C;HGVS_P=NP_000509.1:p.Gly57Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.169G>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_POISSY|HEMOGLOBIN_POISSY;ALL_PMIDS=3841063;ORIGIN=germline;XREFS=OMIM:141900.0223;DATES_ORDERED=2016-07-20
11 5247965 . C T . . START=5247965;STOP=5247965;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15497;RCV=RCV000016759;SCV=SCV000037029;ALLELE_ID=30341;SYMBOL=HBB;HGVS_C=NM_000518.4:c.157G>A;HGVS_P=NP_000509.1:p.Asp53Asn;MOLECULAR_CONSEQUENCE=NM_000518.4:c.157G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_GRENOBLE|HEMOGLOBIN_GRENOBLE;ALL_PMIDS=10335988|15008267|16178917|18932067|2079433|5097135|640855;ORIGIN=germline;XREFS=OMIM:141900.0408;DATES_ORDERED=2016-07-20
11 5247968 . G A . . START=5247968;STOP=5247968;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15497;RCV=RCV000016759;SCV=SCV000037029;ALLELE_ID=30536;SYMBOL=HBB;HGVS_C=NM_000518.4:c.154C>T;HGVS_P=NP_000509.1:p.Pro52Ser;MOLECULAR_CONSEQUENCE=NM_000518.4:c.154C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_GRENOBLE|HEMOGLOBIN_GRENOBLE;ALL_PMIDS=10335988|15008267|16178917|18932067|2079433|5097135|640855;ORIGIN=germline;XREFS=OMIM:141900.0408;DATES_ORDERED=2016-07-20
11 5248024 . A T . . START=5248024;STOP=5248024;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15541;RCV=RCV000016807;SCV=SCV000037077;ALLELE_ID=30572;SYMBOL=HBB;HGVS_C=NM_000518.4:c.98T>A;HGVS_P=NP_000509.1:p.Leu33Gln;MOLECULAR_CONSEQUENCE=NM_000518.4:c.98T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MEDICINE_LAKE|HEMOGLOBIN_MEDICINE_LAKE;ALL_PMIDS=7860732;ORIGIN=germline;XREFS=OMIM:141900.0452;DATES_ORDERED=2016-07-20
11 5248173 . C T . . START=5248173;STOP=5248173;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15366;RCV=RCV000016617;SCV=SCV000036886;ALLELE_ID=30200;SYMBOL=HBB;HGVS_C=NM_000518.4:c.79G>A;HGVS_P=NP_000509.1:p.Glu27Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.79G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other..protective;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_16..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_T_(CAMBODIA)|HEMOGLOBIN_T_(CAMBODIA);ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0276;DATES_ORDERED=2016-07-20
11 5248182 . C T . . START=5248182;STOP=5248182;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15334;RCV=RCV000016576;SCV=SCV000036845;ALLELE_ID=38470;SYMBOL=HBB;HGVS_C=NM_000518.4:c.70G>A;HGVS_P=NP_000509.1:p.Val24Ile;MOLECULAR_CONSEQUENCE=NM_000518.4:c.70G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(ANTILLES)|HEMOGLOBIN_S_(ANTILLES);ALL_PMIDS=2189492|3467311|9166865;ORIGIN=germline;XREFS=OMIM:141900.0244;DATES_ORDERED=1997-06-01
11 5248218 . C T . . START=5248218;STOP=5248218;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15596;RCV=RCV000016863;SCV=SCV000037133;ALLELE_ID=30228;SYMBOL=HBB;HGVS_C=NM_000518.4:c.34G>A;HGVS_P=NP_000509.1:p.Val12Ile;MOLECULAR_CONSEQUENCE=NM_000518.4:c.34G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_O_(TIBESTI)|HEMOGLOBIN_O_(TIBESTI);ALL_PMIDS=1112610|11179419|11939508|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244;ORIGIN=germline;XREFS=OMIM:141900.0507;DATES_ORDERED=2016-07-20
11 5248223 . G T . . START=5248223;STOP=5248223;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15591;RCV=RCV000016858;SCV=SCV000037128;ALLELE_ID=30658;SYMBOL=HBB;HGVS_C=NM_000518.4:c.29C>A;HGVS_P=NP_000509.1:p.Ser10Tyr;MOLECULAR_CONSEQUENCE=NM_000518.4:c.29C>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_D_(AGRI)|HEMOGLOBIN_D_(AGRI);ALL_PMIDS=11570725|1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0502;DATES_ORDERED=2016-07-20
11 5248232 . T A . . START=5248232;STOP=5248232;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15127|15128|15334|15335|15336|15337|15610|15612;RCV=RCV000016286|RCV000030905|RCV000016576|RCV000016577|RCV000016579|RCV000016580|RCV000016877|RCV000016879;SCV=SCV000036554|SCV000036556|SCV000036845|SCV000036846|SCV000036848|SCV000036849|SCV000037147|SCV000037149;ALLELE_ID=30372;SYMBOL=HBB;HGVS_C=NM_000518.4:c.20A>T;HGVS_P=NP_000509.1:p.Glu7Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.20A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other..protective;CLINICAL_SIGNIFICANCE_ORDERED=other|pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(GEORGETOWN)|HEMOGLOBIN_C_(ZIGUINCHOR)|HEMOGLOBIN_S_(ANTILLES)|Sickle_cell-Hemoglobin_O_Arab_disease|HEMOGLOBIN_S_(OMAN)|HEMOGLOBIN_S_(PROVIDENCE)|HEMOGLOBIN_S_(TRAVIS)|HEMOGLOBIN_S_(CAMEROON)|HEMOGLOBIN_JAMAICA_PLAIN;ALL_PMIDS=13943409|5069596|5490239|5928902|1225575|893143|2189492|3467311|9166865|10203101|1112610|11179419|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|25052315|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244|3191036|1634360|19257|15182055|15470216|6166632;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040|OMIM:141900.0244|MedGen:C1264000|OMIM:141900.0245|SNOMED_CT:127048005|OMIM:141900.0246|OMIM:141900.0247|OMIM:141900.0521|OMIM:141900.0523;DATES_ORDERED=2017-02-27|2016-07-20|1997-06-01|1999-04-01|1988-10-01|1992-01-01|2004-05-01
11 5248233 . C T . . START=5248233;STOP=5248233;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15098;RCV=RCV000016251;SCV=SCV000036519;ALLELE_ID=30165;SYMBOL=HBB;HGVS_C=NM_000518.4:c.19G>A;HGVS_P=NP_000509.1:p.Glu7Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.19G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..protective;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ARLINGTON_PARK|HEMOGLOBIN_ARLINGTON_PARK;ALL_PMIDS=893139;ORIGIN=germline;XREFS=OMIM:141900.0010;DATES_ORDERED=2016-07-20
11 5269623 . G C . . START=5269623;STOP=5269623;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15036;RCV=RCV000016180;SCV=SCV000036448;ALLELE_ID=38468;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.410C>G;HGVS_P=NP_000550.2:p.Ala137Gly;MOLECULAR_CONSEQUENCE=NM_000559.2:c.410C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_15..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(CHARLOTTE);ALL_PMIDS=1714434;ORIGIN=germline;XREFS=OMIM:142200.0032;DATES_ORDERED=2011-07-15
11 5269624 . C A . . START=5269624;STOP=5269624;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15041;RCV=RCV000016185;SCV=SCV000036453;ALLELE_ID=30080;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.409G>T;HGVS_P=NP_000550.2:p.Ala137Ser;MOLECULAR_CONSEQUENCE=NM_000559.2:c.409G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(PORTO_TORRES)|HEMOGLOBIN_F_(PORTO_TORRES);ALL_PMIDS=15666429;ORIGIN=germline;XREFS=OMIM:142200.0037;DATES_ORDERED=2016-08-18
11 5270686 . G A . . START=5270686;STOP=5270686;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15036|15041;RCV=RCV000016180|RCV000016185;SCV=SCV000036448|SCV000036453;ALLELE_ID=30044;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.227C>T;HGVS_P=NP_000550.2:p.Thr76Ile;MOLECULAR_CONSEQUENCE=NM_000559.2:c.227C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(PORTO_TORRES);ALL_PMIDS=1714434|15666429;ORIGIN=germline;XREFS=OMIM:142200.0032|OMIM:142200.0037;DATES_ORDERED=2011-07-15|2016-08-18
11 36596373 . C T . . START=36596373;STOP=36596373;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13157;RCV=RCV000014043;SCV=SCV000034290;ALLELE_ID=28196;SYMBOL=RAG1;HGVS_C=NM_000448.2:c.1519C>T;HGVS_P=NP_000439.1:p.Arg507Trp;MOLECULAR_CONSEQUENCE=NM_000448.2:c.1519C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_08..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Combined_cellular_and_humoral_immune_defects_with_granulomas|COMBINED_CELLULAR_AND_HUMORAL_IMMUNE_DEFECTS_WITH_GRANULOMAS;ALL_PMIDS=18463379;ORIGIN=germline;XREFS=Genetic_Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008|MedGen:C2673536|OMIM:233650;DATES_ORDERED=2008-05-08
11 36597064 . G A . . START=36597064;STOP=36597064;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13157;RCV=RCV000014043;SCV=SCV000034290;ALLELE_ID=28188;SYMBOL=RAG1;HGVS_C=NM_000448.2:c.2210G>A;HGVS_P=NP_000439.1:p.Arg737His;MOLECULAR_CONSEQUENCE=NM_000448.2:c.2210G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_08..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Combined_cellular_and_humoral_immune_defects_with_granulomas|COMBINED_CELLULAR_AND_HUMORAL_IMMUNE_DEFECTS_WITH_GRANULOMAS;ALL_PMIDS=18463379;ORIGIN=germline;XREFS=Genetic_Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008|MedGen:C2673536|OMIM:233650;DATES_ORDERED=2008-05-08
11 44129522 . T G . . START=44129522;STOP=44129522;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=218894;RCV=RCV000203245;SCV=SCV000258309;ALLELE_ID=137950;SYMBOL=EXT2;HGVS_C=NM_000401.3:c.359T>G;HGVS_P=NP_997005.1:p.Met87Arg;MOLECULAR_CONSEQUENCE=NM_207122.1:c.260T>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Seizures..scoliosis..and_macrocephaly_syndrome|SEIZURES..SCOLIOSIS..AND_MACROCEPHALY_SYNDROME_(1_family);ALL_PMIDS=26246518;ORIGIN=germline;XREFS=MedGen:C4225248|OMIM:616682;DATES_ORDERED=2015-10-01
11 44129545 . C T . . START=44129545;STOP=44129545;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=218894;RCV=RCV000203245;SCV=SCV000258309;ALLELE_ID=215653;SYMBOL=EXT2;HGVS_C=NM_000401.3:c.382C>T;HGVS_P=NP_997005.1:p.Arg95Cys;MOLECULAR_CONSEQUENCE=NM_207122.1:c.283C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Seizures..scoliosis..and_macrocephaly_syndrome|SEIZURES..SCOLIOSIS..AND_MACROCEPHALY_SYNDROME_(1_family);ALL_PMIDS=26246518;ORIGIN=germline;XREFS=MedGen:C4225248|OMIM:616682;DATES_ORDERED=2015-10-01
11 66113551 . G A . . START=66113551;STOP=66113551;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=51008;RCV=RCV000043695;SCV=SCV000071708;ALLELE_ID=65678;SYMBOL=B4GAT1;HGVS_C=NM_006876.2:c.1217C>T;HGVS_P=NP_006867.1:p.Ala406Val;MOLECULAR_CONSEQUENCE=NM_006876.2:c.1217C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)..type_a..13|MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES)..TYPE_A..13;ALL_PMIDS=23359570;ORIGIN=germline;XREFS=MedGen:C3809042|OMIM:615287|Orphanet:899;DATES_ORDERED=2013-05-01
11 66113600 . T C . . START=66113600;STOP=66113600;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=51008;RCV=RCV000043695;SCV=SCV000071708;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)..type_a..13|MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES)..TYPE_A..13;ALL_PMIDS=23359570;ORIGIN=germline;XREFS=MedGen:C3809042|OMIM:615287|Orphanet:899;DATES_ORDERED=2013-05-01
11 71936057 . C CG . . START=71936063;STOP=71936063;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235823;RCV=RCV000224773;SCV=SCV000281677;ALLELE_ID=237478;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.35dupG;HGVS_P=NP_001558.3:p.Ala13Argfs;MOLECULAR_CONSEQUENCE=NM_001567.3:c.35dupG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=unknown;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08
11 71940602 . G C . . START=71940602;STOP=71940602;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235822;RCV=RCV000224420;SCV=SCV000281676;ALLELE_ID=237479;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.753G>C;HGVS_P=NP_001558.3:p.Gln251His;MOLECULAR_CONSEQUENCE=NM_001567.3:c.753G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08
11 71940720 . CAG C . . START=71940721;STOP=71940722;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235825;RCV=RCV000224914;SCV=SCV000281680;ALLELE_ID=237480;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.768_769delAG;HGVS_P=NP_001558.3:p.Glu258Alafs;MOLECULAR_CONSEQUENCE=NM_001567.3:c.768_769delAG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08
11 71943347 . GTCACC G . . START=71943355;STOP=71943359;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235823;RCV=RCV000224773;SCV=SCV000281677;ALLELE_ID=237481;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.1687_1691delACCTC;HGVS_P=NP_001558.3:p.Thr563Glyfs;MOLECULAR_CONSEQUENCE=NM_001567.3:c.1687_1691delACCTC:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=unknown;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08
11 71945660 . G A . . START=71945660;STOP=71945660;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235825;RCV=RCV000224914;SCV=SCV000281680;ALLELE_ID=48075;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.2415+1G>A;MOLECULAR_CONSEQUENCE=NM_001567.3:c.2415+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08
11 121037361 . C T . . START=121037361;STOP=121037361;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7013;RCV=RCV000007428;SCV=SCV000027628;ALLELE_ID=22052;SYMBOL=TECTA;HGVS_C=NM_005422.2:c.5458C>T;HGVS_P=NP_005413.2:p.Leu1820Phe;MOLECULAR_CONSEQUENCE=NM_005422.2:c.5458C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Deafness..autosomal_dominant_12|DEAFNESS..AUTOSOMAL_DOMINANT_12;ALL_PMIDS=20301607|9590290;ORIGIN=germline;XREFS=Genetic_Alliance:Deafness%2C+autosomal+dominant+12/8133|MedGen:C1832187|OMIM:601543|Orphanet:90635;DATES_ORDERED=1998-05-01
11 121037374 . G A . . START=121037374;STOP=121037374;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7013;RCV=RCV000007428;SCV=SCV000027628;ALLELE_ID=38440;SYMBOL=TECTA;HGVS_C=NM_005422.2:c.5471G>A;HGVS_P=NP_005413.2:p.Gly1824Asp;MOLECULAR_CONSEQUENCE=NM_005422.2:c.5471G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Deafness..autosomal_dominant_12|DEAFNESS..AUTOSOMAL_DOMINANT_12;ALL_PMIDS=20301607|9590290;ORIGIN=germline;XREFS=Genetic_Alliance:Deafness%2C+autosomal+dominant+12/8133|MedGen:C1832187|OMIM:601543|Orphanet:90635;DATES_ORDERED=1998-05-01
12 57894189 . G A . . START=57894189;STOP=57894189;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=189364;RCV=RCV000169765|RCV000173000;SCV=SCV000196708|SCV000224019;ALLELE_ID=187252;SYMBOL=MARS;HGVS_C=NM_004990.3:c.1177G>A;HGVS_P=NP_004981.2:p.Ala393Thr;MOLECULAR_CONSEQUENCE=NM_004990.3:c.1177G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_07..2015;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;ALL_TRAITS=Pulmonary_alveolar_proteinosis|Interstitial_lung_and_liver_disease|INTERSTITIAL_LUNG_AND_LIVER_DISEASE;ALL_PMIDS=25913036;ORIGIN=germline;XREFS=MedGen:C0034050|SNOMED_CT:10501004|MedGen:C3809651|OMIM:615486;DATES_ORDERED=2014-12-02|2015-05-07
12 57906083 . C T . . START=57906083;STOP=57906083;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=189364;RCV=RCV000169765|RCV000173000;SCV=SCV000196708|SCV000224019;ALLELE_ID=187253;SYMBOL=MARS;HGVS_C=NM_004990.3:c.1700C>T;HGVS_P=NP_004981.2:p.Ser567Leu;MOLECULAR_CONSEQUENCE=NM_004990.3:c.1700C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_07..2015;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;ALL_TRAITS=Pulmonary_alveolar_proteinosis|Interstitial_lung_and_liver_disease|INTERSTITIAL_LUNG_AND_LIVER_DISEASE;ALL_PMIDS=25913036;ORIGIN=germline;XREFS=MedGen:C0034050|SNOMED_CT:10501004|MedGen:C3809651|OMIM:615486;DATES_ORDERED=2014-12-02|2015-05-07
12 80752660 . A G . . START=80752660;STOP=80752660;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=229122;RCV=RCV000217831;SCV=SCV000272283;ALLELE_ID=230419;SYMBOL=OTOGL;HGVS_C=NM_173591.3:c.6220A>G;HGVS_P=NP_775862.3:p.Ile2074Val;MOLECULAR_CONSEQUENCE=NM_173591.3:c.6220A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-01
12 80752661 . T C . . START=80752661;STOP=80752661;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=229122;RCV=RCV000217831;SCV=SCV000272283;ALLELE_ID=230420;SYMBOL=OTOGL;HGVS_C=NM_173591.3:c.6221T>C;HGVS_P=NP_775862.3:p.Ile2074Thr;MOLECULAR_CONSEQUENCE=NM_173591.3:c.6221T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-01
12 102151032 . G A . . START=102151032;STOP=102151032;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39094;RCV=RCV000032361;SCV=SCV000056008;ALLELE_ID=47698;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.3392C>T;HGVS_P=NP_077288.2:p.Ser1131Phe;MOLECULAR_CONSEQUENCE=NM_024312.4:c.3392C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10
12 102151034 . A AG . . START=102151035;STOP=102151036;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39094;RCV=RCV000032361;SCV=SCV000056008;ALLELE_ID=47699;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.3388_3389insC;HGVS_P=NP_077288.2:p.Val1130Alafs;MOLECULAR_CONSEQUENCE=NM_024312.4:c.3388_3389insC:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10
12 102155393 . G A . . START=102155393;STOP=102155393;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39093;RCV=RCV000032360;SCV=SCV000056007;ALLELE_ID=47696;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.2864C>T;HGVS_P=NP_077288.2:p.Ala955Val;MOLECULAR_CONSEQUENCE=NM_024312.4:c.2864C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10
12 102155474 . T C . . START=102155474;STOP=102155474;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39093;RCV=RCV000032360;SCV=SCV000056007;ALLELE_ID=47697;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.2783A>G;HGVS_P=NP_077288.2:p.Lys928Arg;MOLECULAR_CONSEQUENCE=NM_024312.4:c.2783A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10
12 102174357 . T G . . START=102174357;STOP=102174357;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39095;RCV=RCV000032362;SCV=SCV000056009;ALLELE_ID=47700;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.614A>C;HGVS_P=NP_077288.2:p.Gln205Pro;MOLECULAR_CONSEQUENCE=NM_024312.4:c.614A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10
12 102179816 . A T . . START=102179816;STOP=102179816;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39095;RCV=RCV000032362;SCV=SCV000056009;ALLELE_ID=47701;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.545T>A;HGVS_P=NP_077288.2:p.Val182Asp;MOLECULAR_CONSEQUENCE=NM_024312.4:c.545T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10
12 103246681 . G A . . START=103246681;STOP=103246681;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217885;RCV=RCV000201954;SCV=SCV000256881;ALLELE_ID=15623;SYMBOL=PAH;HGVS_C=NM_000277.2:c.754C>T;HGVS_P=NP_000268.1:p.Arg252Trp;MOLECULAR_CONSEQUENCE=NM_000277.2:c.754C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_26..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|2574153|9429153;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2014-08-07
12 103246700 . C T . . START=103246700;STOP=103246700;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=402236;RCV=RCV000454199;SCV=SCV000538053;ALLELE_ID=98655;SYMBOL=PAH;HGVS_C=NM_000277.2:c.735G>A;HGVS_P=NP_000268.1:p.Val245_eq_;MOLECULAR_CONSEQUENCE=NM_000277.2:c.735G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;SUBMITTERS_ORDERED=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|25741868;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2015-08-13
12 103246712 . GC G . . START=103246713;STOP=103246713;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=402236;RCV=RCV000454199;SCV=SCV000538053;ALLELE_ID=108542;SYMBOL=PAH;HGVS_C=NM_000277.2:c.722delG;HGVS_P=NP_000268.1:p.Arg241Profs;MOLECULAR_CONSEQUENCE=NM_000277.2:c.722delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_13..2015;ALL_SUBMITTERS=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;SUBMITTERS_ORDERED=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|25741868;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2015-08-13
12 103271835 . C A . . START=103271835;STOP=103271835;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217885;RCV=RCV000201954;SCV=SCV000256881;ALLELE_ID=214540;SYMBOL=PAH;HGVS_C=NM_000277.2:c.353-507G>T;MOLECULAR_CONSEQUENCE=NM_000277.2:c.353-507G>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_07..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|2574153|9429153;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2014-08-07
13 20763313 . G T . . START=20763313;STOP=20763313;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267367;RCV=RCV000258130;SCV=SCV000328260|SCV000599732;ALLELE_ID=186856;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.408C>A;HGVS_P=NP_003995.2:p.Tyr136Ter;MOLECULAR_CONSEQUENCE=NM_004004.5:c.408C>A:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=Deafness..autosomal_recessive_1A|DEAFNESS..AUTOSOMAL_RECESSIVE_1A|Deafness..autosomal_recessive_1A;ALL_PMIDS=1|12560944|15633193|20301449|20301607|20497192|24785414;ORIGIN=germline;XREFS=GeneReviews:NBK1272|Genetic_Alliance:Deafness%2C+autosomal+recessive+1A/8159|MedGen:C2673759|OMIM:220290|Office_of_Rare_Diseases:1697|Orphanet:90636;DATES_ORDERED=2010-11-01|2017-05-09
13 20763380 . T C . . START=20763380;STOP=20763380;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=177819;RCV=RCV000154452;SCV=SCV000204121;ALLELE_ID=53906;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.341A>G;HGVS_P=NP_003995.2:p.Glu114Gly;MOLECULAR_CONSEQUENCE=NM_004004.5:c.341A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=10607953|10983956|12746422|15070423|17041943|17666888|20083784|20201936|20668687|21298213|23826813|24033266|9529365;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-28
13 20763587 . C T . . START=20763587;STOP=20763587;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267367;RCV=RCV000258130;SCV=SCV000328260|SCV000599732;ALLELE_ID=32072;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.134G>A;HGVS_P=NP_003995.2:p.Gly45Glu;MOLECULAR_CONSEQUENCE=NM_004004.5:c.134G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=Deafness..autosomal_recessive_1A|DEAFNESS..AUTOSOMAL_RECESSIVE_1A|Deafness..autosomal_recessive_1A;ALL_PMIDS=1|12560944|15633193|20301449|20301607|20497192|24785414;ORIGIN=germline;XREFS=GeneReviews:NBK1272|Genetic_Alliance:Deafness%2C+autosomal+recessive+1A/8159|MedGen:C2673759|OMIM:220290|Office_of_Rare_Diseases:1697|Orphanet:90636;DATES_ORDERED=2010-11-01|2017-05-09
13 20763642 . C T . . START=20763642;STOP=20763642;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=177819;RCV=RCV000154452;SCV=SCV000204121;ALLELE_ID=44943;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.79G>A;HGVS_P=NP_003995.2:p.Val27Ile;MOLECULAR_CONSEQUENCE=NM_004004.5:c.79G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=10607953|10983956|12746422|15070423|17041943|17666888|20083784|20201936|20668687|21298213|23826813|24033266|9529365;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-28
13 52515247 . C T . . START=52515247;STOP=52515247;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3863;RCV=RCV000004067;SCV=SCV000024233;ALLELE_ID=38430;SYMBOL=ATP7B;HGVS_C=NM_000053.3:c.3526G>A;HGVS_P=NP_000044.2:p.Gly1176Arg;MOLECULAR_CONSEQUENCE=NM_000053.3:c.3526G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Wilson_disease|WILSON_DISEASE;ALL_PMIDS=15845031|18506894|20301685|20482602|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1512|Genetic_Alliance:Wilson+disease/7506|Genetic_Testing_Registry_(GTR):GTR000260623|Genetic_Testing_Registry_(GTR):GTR000501125|Genetic_Testing_Registry_(GTR):GTR000503091|Genetic_Testing_Registry_(GTR):GTR000507952|Genetic_Testing_Registry_(GTR):GTR000508735|Genetic_Testing_Registry_(GTR):GTR000509712|Genetic_Testing_Registry_(GTR):GTR000515523|Genetic_Testing_Registry_(GTR):GTR000520457|Genetic_Testing_Registry_(GTR):GTR000521900|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528632|Genetic_Testing_Registry_(GTR):GTR000528928|Genetic_Testing_Registry_(GTR):GTR000530035|Genetic_Testing_Registry_(GTR):GTR000530097|Genetic_Testing_Registry_(GTR):GTR000552345|Genetic_Testing_Registry_(GTR):GTR000553937|Genetics_Home_Reference:wilson-disease|MedGen:C0019202|OMIM:277900|Office_of_Rare_Diseases:7893|Orphanet:905|SNOMED_CT:88518009;DATES_ORDERED=2005-05-01
13 52515330 . A G . . START=52515330;STOP=52515330;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3863;RCV=RCV000004067;SCV=SCV000024233;ALLELE_ID=18902;SYMBOL=ATP7B;HGVS_C=NM_000053.3:c.3443T>C;HGVS_P=NP_000044.2:p.Ile1148Thr;MOLECULAR_CONSEQUENCE=NM_000053.3:c.3443T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_10..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Wilson_disease|WILSON_DISEASE;ALL_PMIDS=15845031|18506894|20301685|20482602|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1512|Genetic_Alliance:Wilson+disease/7506|Genetic_Testing_Registry_(GTR):GTR000260623|Genetic_Testing_Registry_(GTR):GTR000501125|Genetic_Testing_Registry_(GTR):GTR000503091|Genetic_Testing_Registry_(GTR):GTR000507952|Genetic_Testing_Registry_(GTR):GTR000508735|Genetic_Testing_Registry_(GTR):GTR000509712|Genetic_Testing_Registry_(GTR):GTR000515523|Genetic_Testing_Registry_(GTR):GTR000520457|Genetic_Testing_Registry_(GTR):GTR000521900|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528632|Genetic_Testing_Registry_(GTR):GTR000528928|Genetic_Testing_Registry_(GTR):GTR000530035|Genetic_Testing_Registry_(GTR):GTR000530097|Genetic_Testing_Registry_(GTR):GTR000552345|Genetic_Testing_Registry_(GTR):GTR000553937|Genetics_Home_Reference:wilson-disease|MedGen:C0019202|OMIM:277900|Office_of_Rare_Diseases:7893|Orphanet:905|SNOMED_CT:88518009;DATES_ORDERED=2005-05-01
13 103701773 . G A . . START=103701773;STOP=103701773;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8241;RCV=RCV000008724;SCV=SCV000028933;ALLELE_ID=38442;SYMBOL=SLC10A2;HGVS_C=NM_000452.2:c.785C>T;HGVS_P=NP_000443.1:p.Thr262Met;MOLECULAR_CONSEQUENCE=NM_000452.2:c.785C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_15..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Bile_acid_malabsorption..primary|BILE_ACID_MALABSORPTION..PRIMARY;ALL_PMIDS=9109432;ORIGIN=germline;XREFS=Genetic_Alliance:Bile+acid+malabsorption%2C+primary/7818|MedGen:C2750087|OMIM:613291;DATES_ORDERED=1997-04-15
13 103703640 . A G . . START=103703640;STOP=103703640;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8241;RCV=RCV000008724;SCV=SCV000028933;ALLELE_ID=23280;SYMBOL=SLC10A2;HGVS_C=NM_000452.2:c.728T>C;HGVS_P=NP_000443.1:p.Leu243Pro;MOLECULAR_CONSEQUENCE=NM_000452.2:c.728T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_15..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Bile_acid_malabsorption..primary|BILE_ACID_MALABSORPTION..PRIMARY;ALL_PMIDS=9109432;ORIGIN=germline;XREFS=Genetic_Alliance:Bile+acid+malabsorption%2C+primary/7818|MedGen:C2750087|OMIM:613291;DATES_ORDERED=1997-04-15
14 29237048 . C G . . START=29237048;STOP=29237048;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=189607;RCV=RCV000170068;SCV=SCV000222377;ALLELE_ID=169055;SYMBOL=FOXG1;HGVS_C=NM_005249.4:c.563C>G;HGVS_P=NP_005240.3:p.Ala188Gly;MOLECULAR_CONSEQUENCE=NM_005249.4:c.563C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_08..2013;ALL_SUBMITTERS=RettBASE;SUBMITTERS_ORDERED=RettBASE;ALL_TRAITS=not_provided|Not_provided;ORIGIN=de_novo;XREFS=MedGen:CN221809;DATES_ORDERED=2011-02-15
14 29237129 . TC CT . . START=29237129;STOP=29237130;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=189607;RCV=RCV000170068;SCV=SCV000222377;ALLELE_ID=187407;SYMBOL=FOXG1;HGVS_C=NM_005249.4:c.644_645delTCinsCT;HGVS_P=NP_005240.3:p.Phe215Ser;MOLECULAR_CONSEQUENCE=NM_005249.4:c.644_645delTCinsCT:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_08..2013;ALL_SUBMITTERS=RettBASE;SUBMITTERS_ORDERED=RettBASE;ALL_TRAITS=not_provided|Not_provided;ORIGIN=de_novo;XREFS=MedGen:CN221809;DATES_ORDERED=2011-02-15
14 32031331 . G A . . START=32031331;STOP=32031331;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7;RCV=RCV000000017;SCV=SCV000020160|SCV000245520;ALLELE_ID=15046;SYMBOL=NUBPL;HGVS_C=NM_025152.2:c.166G>A;HGVS_P=NP_079428.2:p.Gly56Arg;MOLECULAR_CONSEQUENCE=NM_025152.2:c.166G>A:missense_variant|NR_120408.1:n.221G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_22..2017;ALL_SUBMITTERS=OMIM|Baylor_Miraca_Genetics_Laboratories;SUBMITTERS_ORDERED=OMIM|Baylor_Miraca_Genetics_Laboratories;ALL_TRAITS=Mitochondrial_complex_I_deficiency|MITOCHONDRIAL_COMPLEX_I_DEFICIENCY|Mitochondrial_complex_I_deficiency;ALL_PMIDS=20818383|22072591|23553477|24088041|26633545;ORIGIN=germline|maternal|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609;DATES_ORDERED=2013-05-02|2014-04-09
14 32319298 . T C . . START=32319298;STOP=32319298;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7;RCV=RCV000000017;SCV=SCV000020160|SCV000245520;ALLELE_ID=59458;SYMBOL=NUBPL;HGVS_C=NM_025152.2:c.815-27T>C;MOLECULAR_CONSEQUENCE=NM_025152.2:c.815-27T>C:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_09..2017;ALL_SUBMITTERS=OMIM|Baylor_Miraca_Genetics_Laboratories;SUBMITTERS_ORDERED=OMIM|Baylor_Miraca_Genetics_Laboratories;ALL_TRAITS=Mitochondrial_complex_I_deficiency|MITOCHONDRIAL_COMPLEX_I_DEFICIENCY|Mitochondrial_complex_I_deficiency;ALL_PMIDS=20818383|22072591|23553477|24088041|26633545;ORIGIN=germline|maternal|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609;DATES_ORDERED=2013-05-02|2014-04-09
14 51378443 . AGTAC A . . START=51378444;STOP=51378447;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=38368;RCV=RCV000020505;SCV=SCV000040956;ALLELE_ID=46929;SYMBOL=PYGL;HGVS_C=NM_002863.4:c.1969+1_1969+4delGTAC;MOLECULAR_CONSEQUENCE=NM_002863.4:c.1969+1_1969+4delGTAC:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_17..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Glycogen_storage_disease..type_VI|Glycogen_Storage_Disease_Type_VI;ALL_PMIDS=17705025|20301760;ORIGIN=not_provided;XREFS=GeneReviews:NBK5941|Genetic_Alliance:Glycogen+Storage+Disease+Type+6/3126|MedGen:C0017925|OMIM:232700|Office_of_Rare_Diseases:6529|Orphanet:369|SNOMED_CT:237971004|SNOMED_CT:29291001;DATES_ORDERED=2011-05-17
14 51378448 . CTTTTT AAAAAG . . START=51378448;STOP=51378453;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=38368;RCV=RCV000020505;SCV=SCV000040956;ALLELE_ID=46930;SYMBOL=PYGL;HGVS_C=NM_002863.4:c.1964_1969invAAAAAG;HGVS_P=NP_002854.3:p.Glu655_Lys656del;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_17..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Glycogen_storage_disease..type_VI|Glycogen_Storage_Disease_Type_VI;ALL_PMIDS=17705025|20301760;ORIGIN=not_provided;XREFS=GeneReviews:NBK5941|Genetic_Alliance:Glycogen+Storage+Disease+Type+6/3126|MedGen:C0017925|OMIM:232700|Office_of_Rare_Diseases:6529|Orphanet:369|SNOMED_CT:237971004|SNOMED_CT:29291001;DATES_ORDERED=2011-05-17
14 75570544 . C A . . START=75570544;STOP=75570544;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=242987;RCV=RCV000234965;SCV=SCV000292296;ALLELE_ID=248590;SYMBOL=NEK9;HGVS_C=NM_033116.5:c.1731+1G>T;MOLECULAR_CONSEQUENCE=NM_033116.5:c.1731+1G>T:splice_donor_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nevus_comedonicus|NEVUS_COMEDONICUS..SOMATIC;ALL_PMIDS=27153399;ORIGIN=somatic;XREFS=MedGen:C0265987|OMIM:617025;DATES_ORDERED=2016-07-11
14 75570561 . C A . . START=75570561;STOP=75570561;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=242987;RCV=RCV000234965;SCV=SCV000292296;ALLELE_ID=244069;SYMBOL=NEK9;HGVS_C=NM_033116.5:c.1715G>T;HGVS_P=NP_149107.4:p.Gly572Val;MOLECULAR_CONSEQUENCE=NM_033116.5:c.1715G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nevus_comedonicus|NEVUS_COMEDONICUS..SOMATIC;ALL_PMIDS=27153399;ORIGIN=somatic;XREFS=MedGen:C0265987|OMIM:617025;DATES_ORDERED=2016-07-11
14 94847262 . T A . . START=94847262;STOP=94847262;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440500|440501;RCV=RCV000508742|RCV000508836;SCV=SCV000605935|SCV000605936;ALLELE_ID=33008;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.863A>T;HGVS_P=NP_001121173.1:p.Glu288Val;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.863A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_24..2017;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency|Alpha-1_Antitrypsin_Deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2016-07-12|2015-11-13
14 94847386 . G A . . START=94847386;STOP=94847386;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=219354;RCV=RCV000205893;SCV=SCV000259189;ALLELE_ID=33000;SYMBOL=SERPINA1;HGVS_C=NM_001127707.1:c.739C>T;HGVS_P=NP_001121179.1:p.Arg247Cys;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.739C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2015-07-23
14 94848973 . T C . . START=94848973;STOP=94848973;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440500;RCV=RCV000508742;SCV=SCV000605935;ALLELE_ID=434125;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.602A>G;HGVS_P=NP_001121173.1:p.Asp201Gly;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.602A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency|Alpha-1_Antitrypsin_Deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2016-07-12
14 94849061 . C T . . START=94849061;STOP=94849061;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17972;RCV=RCV000019572;SCV=SCV000039869;ALLELE_ID=33011;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.514G>A;HGVS_P=NP_001121173.1:p.Gly172Arg;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.514G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=PI_M(NICHINAN)|PI_M(NICHINAN);ALL_PMIDS=2309708|6162902;ORIGIN=germline;XREFS=OMIM:107400.0017;DATES_ORDERED=2016-07-15
14 94849345 . GAGA G . . START=94849346;STOP=94849348;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17972;RCV=RCV000019572;SCV=SCV000039869;ALLELE_ID=321860;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.227_229delTCT;HGVS_P=NP_001121173.1:p.Phe76del;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.227_229delTCT:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=PI_M(NICHINAN)|PI_M(NICHINAN);ALL_PMIDS=2309708|6162902;ORIGIN=germline;XREFS=OMIM:107400.0017;DATES_ORDERED=2016-07-15
14 94849385 . G T . . START=94849385;STOP=94849385;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440501;RCV=RCV000508836;SCV=SCV000605936;ALLELE_ID=434128;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.190C>A;HGVS_P=NP_001121173.1:p.Gln64Lys;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.190C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_13..2015;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency|Alpha-1_Antitrypsin_Deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2015-11-13
14 94849388 . G A . . START=94849388;STOP=94849388;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=219354;RCV=RCV000205893;SCV=SCV000259189;ALLELE_ID=33013;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.187C>T;HGVS_P=NP_001121173.1:p.Arg63Cys;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.187C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_11..2016;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2015-07-23
15 50782626 . T G . . START=50782626;STOP=50782626;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=161994;RCV=RCV000149419;SCV=SCV000192010;ALLELE_ID=171716;SYMBOL=USP8;HGVS_C=NM_005154.4:c.2138T>G;HGVS_P=NP_005145.3:p.Leu713Arg;MOLECULAR_CONSEQUENCE=NM_001128610.2:c.2138T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_18..2014;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar;ALL_TRAITS=Pituitary_dependent_hypercortisolism|Pituitary_dependent_hypercortisolism;ALL_PMIDS=22720333;ORIGIN=somatic;XREFS=GeneReviews:NBK97965|Genetic_Alliance:Pituitary+dependent+hypercortisolism/9118|MedGen:C0221406|OMIM:219090|Orphanet:96253|SNOMED_CT:190502001;DATES_ORDERED=2014-11-18
15 50782638 . A G . . START=50782638;STOP=50782638;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=161994;RCV=RCV000149419;SCV=SCV000192010;ALLELE_ID=171717;SYMBOL=USP8;HGVS_C=NM_005154.4:c.2150A>G;HGVS_P=NP_005145.3:p.Tyr717Cys;MOLECULAR_CONSEQUENCE=NM_001128610.2:c.2150A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_18..2014;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar;ALL_TRAITS=Pituitary_dependent_hypercortisolism|Pituitary_dependent_hypercortisolism;ALL_PMIDS=22720333;ORIGIN=somatic;XREFS=GeneReviews:NBK97965|Genetic_Alliance:Pituitary+dependent+hypercortisolism/9118|MedGen:C0221406|OMIM:219090|Orphanet:96253|SNOMED_CT:190502001;DATES_ORDERED=2014-11-18
15 51250689 . G A . . START=51250689;STOP=51250689;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224506;RCV=RCV000210065;SCV=SCV000265991;ALLELE_ID=226246;SYMBOL=AP4E1;HGVS_C=NM_007347.4:c.1549G>A;HGVS_P=NP_031373.2:p.Val517Ile;MOLECULAR_CONSEQUENCE=NM_007347.4:c.1549G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_16..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Stuttering..familial_persistent_1|STUTTERING..FAMILIAL_PERSISTENT..1;ALL_PMIDS=23239121|26544806;ORIGIN=germline;XREFS=Gene:100049541|MedGen:C3489627|OMIM:184450;DATES_ORDERED=2016-03-16
15 51289577 . G A . . START=51289577;STOP=51289577;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224506;RCV=RCV000210065;SCV=SCV000265991;ALLELE_ID=226245;SYMBOL=AP4E1;HGVS_C=NM_007347.4:c.2401G>A;HGVS_P=NP_031373.2:p.Glu801Lys;MOLECULAR_CONSEQUENCE=NM_007347.4:c.2401G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_16..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Stuttering..familial_persistent_1|STUTTERING..FAMILIAL_PERSISTENT..1;ALL_PMIDS=23239121|26544806;ORIGIN=germline;XREFS=Gene:100049541|MedGen:C3489627|OMIM:184450;DATES_ORDERED=2016-03-16
15 89866657 . C G . . START=89866657;STOP=89866657;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157526;RCV=RCV000144870;SCV=SCV000172142;ALLELE_ID=28546;SYMBOL=POLG;HGVS_C=NM_002693.2:c.2243G>C;HGVS_P=NP_002684.1:p.Trp748Ser;MOLECULAR_CONSEQUENCE=NM_002693.2:c.2243G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_07..2017;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=15477547|15824347|20301532|22189570|25025039|28812649;ORIGIN=not_applicable;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01
15 89870237 . C G . . START=89870237;STOP=89870237;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157526;RCV=RCV000144870;SCV=SCV000172142;ALLELE_ID=28549;SYMBOL=POLG;HGVS_C=NM_002693.2:c.1491G>C;HGVS_P=NP_002684.1:p.Gln497His;MOLECULAR_CONSEQUENCE=NM_002693.2:c.1491G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_11..2016;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=15477547|15824347|20301532|22189570|25025039|28812649;ORIGIN=not_applicable;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01
16 223509 . C G . . START=223509;STOP=223509;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=375745;RCV=RCV000417222;SCV=SCV000503054;ALLELE_ID=362631;SYMBOL=HBA2;HGVS_C=NM_000517.4:c.339C>G;HGVS_P=NP_000508.1:p.His113Gln;MOLECULAR_CONSEQUENCE=NM_000517.4:c.339C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_29..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=alpha_Thalassemia;ALL_PMIDS=20301608|25052315|8735302;ORIGIN=germline;XREFS=GeneReviews:NBK1435|Genetic_Alliance:Alpha-Thalassemia/333|MedGen:C0002312|OMIM:604131|Orphanet:846|SNOMED_CT:68913001;DATES_ORDERED=2016-12-29
16 223509 . CCTCCCCGCCGAG C . . START=223510;STOP=223521;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=375745;RCV=RCV000417222;SCV=SCV000503054;ALLELE_ID=362632;SYMBOL=HBA2;HGVS_C=NM_000517.4:c.340_351delCTCCCCGCCGAG;HGVS_P=NP_000508.1:p.Leu114_Glu117del;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_29..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=alpha_Thalassemia;ALL_PMIDS=20301608|25052315|8735302;ORIGIN=germline;XREFS=GeneReviews:NBK1435|Genetic_Alliance:Alpha-Thalassemia/333|MedGen:C0002312|OMIM:604131|Orphanet:846|SNOMED_CT:68913001;DATES_ORDERED=2016-12-29
16 227067 . A G . . START=227067;STOP=227067;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=15762;RCV=RCV000017073;SCV=SCV000037345;ALLELE_ID=30800;SYMBOL=HBA1;HGVS_C=NM_000558.4:c.235A>G;HGVS_P=NP_000549.1:p.Asn79Asp;MOLECULAR_CONSEQUENCE=NM_000558.4:c.235A>G:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_J_(SINGAPORE)|HEMOGLOBIN_J_(SINGAPORE);ALL_PMIDS=5085670;ORIGIN=germline;XREFS=OMIM:141800.0075;DATES_ORDERED=2016-07-20
16 227071 . C G . . START=227071;STOP=227071;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=15762;RCV=RCV000017073;SCV=SCV000037345;ALLELE_ID=38474;SYMBOL=HBA1;HGVS_C=NM_000558.4:c.239C>G;HGVS_P=NP_000549.1:p.Ala80Gly;MOLECULAR_CONSEQUENCE=NM_000558.4:c.239C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_J_(SINGAPORE)|HEMOGLOBIN_J_(SINGAPORE);ALL_PMIDS=5085670;ORIGIN=germline;XREFS=OMIM:141800.0075;DATES_ORDERED=2016-07-20
16 1254325 . G A . . START=1254325;STOP=1254325;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2704;RCV=RCV000002823;SCV=SCV000022981;ALLELE_ID=17743;SYMBOL=CACNA1H;HGVS_C=NM_021098.2:c.2318G>A;HGVS_P=NP_066921.2:p.Gly773Asp;MOLECULAR_CONSEQUENCE=NM_021098.2:c.2318G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_11..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..childhood_absence_6|EPILEPSY..CHILDHOOD_ABSENCE..SUSCEPTIBILITY_TO..6;ALL_PMIDS=12891677|15888660;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+childhood+absence+6/8325|MedGen:C2749872|OMIM:611942|Orphanet:64280;DATES_ORDERED=2005-05-11
16 1254369 . C T . . START=1254369;STOP=1254369;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2704;RCV=RCV000002823;SCV=SCV000022981;ALLELE_ID=38427;SYMBOL=CACNA1H;HGVS_C=NM_021098.2:c.2362C>T;HGVS_P=NP_066921.2:p.Arg788Cys;MOLECULAR_CONSEQUENCE=NM_021098.2:c.2362C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_03..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..childhood_absence_6|EPILEPSY..CHILDHOOD_ABSENCE..SUSCEPTIBILITY_TO..6;ALL_PMIDS=12891677|15888660;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+childhood+absence+6/8325|MedGen:C2749872|OMIM:611942|Orphanet:64280;DATES_ORDERED=2005-05-11
16 1545525 . C T . . START=1545525;STOP=1545525;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=236230;RCV=RCV000225207;SCV=SCV000282071|SCV000298029;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_17..2016;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=You-Hoover-Fong_syndrome|YOU-HOOVER-FONG_SYNDROME;ALL_PMIDS=27132593;ORIGIN=germline;XREFS=MedGen:C4310778|OMIM:616954;DATES_ORDERED=2016-06-17|0000-00-00
16 1555603 . G A . . START=1555603;STOP=1555603;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=236230;RCV=RCV000225207;SCV=SCV000282071|SCV000298029;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_17..2016;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=You-Hoover-Fong_syndrome|YOU-HOOVER-FONG_SYNDROME;ALL_PMIDS=27132593;ORIGIN=germline;XREFS=MedGen:C4310778|OMIM:616954;DATES_ORDERED=2016-06-17|0000-00-00
16 2110651 . T A . . START=2110651;STOP=2110651;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65347;RCV=RCV000055571;SCV=SCV000083795;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=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);SUBMITTERS_ORDERED=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=20301399|23519317|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000;DATES_ORDERED=0000-00-00
16 2131729 . C CCTGTACAAGTCA . . START=2131730;STOP=2131741;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=64881;RCV=RCV000055081;SCV=SCV000083299;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=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);SUBMITTERS_ORDERED=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=15798777|20301399|23519317|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000;DATES_ORDERED=0000-00-00
16 2134579 . GCC G . . START=2134581;STOP=2134582;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65324;RCV=RCV000055548;SCV=SCV000083772;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=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);SUBMITTERS_ORDERED=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=11468687|20301399|23519317|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000;DATES_ORDERED=0000-00-00
16 2134583 . AGTGGCCTCCGGC A . . START=2134584;STOP=2134595;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65324;RCV=RCV000055548;SCV=SCV000083772;ALLELE_ID=76257;SYMBOL=TSC2;HGVS_C=NM_000548.4:c.4361_4372delGTGGCCTCCGGC;HGVS_P=NP_000539.2:p.Ser1454_Pro1458delinsThr;MOLECULAR_CONSEQUENCE=NM_000548.4:c.4361_4372delGTGGCCTCCGGC:inframe_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);SUBMITTERS_ORDERED=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=11468687|20301399|23519317|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000;DATES_ORDERED=0000-00-00
16 2135279 . TACGACACCC T . . START=2135282;STOP=2135290;VARIATION_TYPE=Haplotype;VARIATION_ID=65183;RCV=RCV000055400;SCV=SCV000083621;ALLELE_ID=76115;HGVS_C=NM_000548.4:c.4621_4629delGACACCCAC;HGVS_P=NP_000539.2:p.Asp1541_His1543del;MOLECULAR_CONSEQUENCE=NM_000548.4:c.4621_4629delGACACCCAC:inframe_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);SUBMITTERS_ORDERED=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=20301399|23519317|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000;DATES_ORDERED=0000-00-00
16 3293405 . C T . . START=3293405;STOP=3293405;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2555;RCV=RCV000002664;SCV=SCV000022822;ALLELE_ID=17578;SYMBOL=MEFV;HGVS_C=NM_000243.2:c.2082G>A;HGVS_P=NP_000234.1:p.Met694Ile;MOLECULAR_CONSEQUENCE=NM_000243.2:c.2082G>A:missense_variant|NM_001198536.1:c.*286G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_mediterranean_fever..autosomal_dominant|FAMILIAL_MEDITERRANEAN_FEVER..AUTOSOMAL_DOMINANT;ALL_PMIDS=10024914|10090880|10364520|10612841|10787449|10980540|11484206|11938447|12401847|12929299|12955725|15942916|16255051|17331080|18097735|19967574|20041150|20301405|20534143|9668175;ORIGIN=germline;XREFS=GeneReviews:NBK1227|Genetic_Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401|MedGen:C1851347|OMIM:134610|Orphanet:342;DATES_ORDERED=2000-04-01
16 3304626 . C G . . START=3304626;STOP=3304626;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2555;RCV=RCV000002664;SCV=SCV000022822;ALLELE_ID=17581;SYMBOL=MEFV;HGVS_C=NM_000243.2:c.442G>C;HGVS_P=NP_000234.1:p.Glu148Gln;MOLECULAR_CONSEQUENCE=NM_000243.2:c.442G>C:missense_variant|NM_001198536.1:c.277+1685G>C:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_30..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_mediterranean_fever..autosomal_dominant|FAMILIAL_MEDITERRANEAN_FEVER..AUTOSOMAL_DOMINANT;ALL_PMIDS=10024914|10090880|10364520|10612841|10787449|10980540|11484206|11938447|12401847|12929299|12955725|15942916|16255051|17331080|18097735|19967574|20041150|20301405|20534143|9668175;ORIGIN=germline;XREFS=GeneReviews:NBK1227|Genetic_Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401|MedGen:C1851347|OMIM:134610|Orphanet:342;DATES_ORDERED=2000-04-01
16 14687212 . A AT . . START=14687213;STOP=14687213;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=180663;RCV=RCV000162315;SCV=SCV000206799;ALLELE_ID=178829;SYMBOL=PARN;HGVS_C=NM_002582.3:c.863dupA;HGVS_P=NP_002573.1:p.Asn288Lysfs;MOLECULAR_CONSEQUENCE=NM_002582.3:c.863dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_13..2015;ALL_SUBMITTERS=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;SUBMITTERS_ORDERED=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;ALL_TRAITS=Dyskeratosis_congenita|Dyskeratosis_congenita;ALL_PMIDS=20301779;ORIGIN=germline;XREFS=GeneReviews:NBK22301|Genetic_Alliance:Dyskeratosis+congenita/9566|MedGen:C0265965|OMIM:PS127550|SNOMED_CT:74911008;DATES_ORDERED=2015-02-04
16 14702130 . ATACT A . . START=14702131;STOP=14702134;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=180663;RCV=RCV000162315;SCV=SCV000206799;ALLELE_ID=178830;SYMBOL=PARN;HGVS_C=NM_002582.3:c.659+4_659+7delAGTA;MOLECULAR_CONSEQUENCE=NM_002582.3:c.659+4_659+7delAGTA:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_12..2015;ALL_SUBMITTERS=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;SUBMITTERS_ORDERED=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;ALL_TRAITS=Dyskeratosis_congenita|Dyskeratosis_congenita;ALL_PMIDS=20301779;ORIGIN=germline;XREFS=GeneReviews:NBK22301|Genetic_Alliance:Dyskeratosis+congenita/9566|MedGen:C0265965|OMIM:PS127550|SNOMED_CT:74911008;DATES_ORDERED=2015-02-04
16 15812194 . C T . . START=15812194;STOP=15812194;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14131;RCV=RCV000015192;SCV=SCV000035449;ALLELE_ID=29170;SYMBOL=MYH11;HGVS_C=NM_001040113.1:c.5294G>A;HGVS_P=NP_001035202.1:p.Arg1765Gln;MOLECULAR_CONSEQUENCE=NM_001040113.1:c.5294G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_03..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=14722581|16444274|20301299|23788249|24882528|25173340|25356965|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876;DATES_ORDERED=2006-03-01
16 15815278 . C A . . START=15815278;STOP=15815278;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14131;RCV=RCV000015192;SCV=SCV000035449;ALLELE_ID=75290;SYMBOL=MYH11;HGVS_C=NM_001040113.1:c.4599+1G>T;MOLECULAR_CONSEQUENCE=NM_001040113.1:c.4599+1G>T:splice_donor_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=14722581|16444274|20301299|23788249|24882528|25173340|25356965|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876;DATES_ORDERED=2006-03-01
16 15820739 . C A . . START=15820739;STOP=15820739;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440783;RCV=RCV000015194;SCV=SCV000035451;ALLELE_ID=29173;SYMBOL=MYH11;HGVS_C=NM_001040114.1:c.3845G>T;HGVS_P=NP_001035203.1:p.Arg1282Leu;MOLECULAR_CONSEQUENCE=NM_001040113.1:c.3845G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_29..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=17666408|20301299|23788249|24882528|25173340|25356965|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876;DATES_ORDERED=2007-10-15
16 15820772 . A G . . START=15820772;STOP=15820772;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440783;RCV=RCV000015194;SCV=SCV000035451;ALLELE_ID=94510;SYMBOL=MYH11;HGVS_C=NM_001040113.1:c.3812T>C;HGVS_P=NP_001035202.1:p.Leu1271Pro;MOLECULAR_CONSEQUENCE=NM_001040113.1:c.3812T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_28..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=17666408|20301299|23788249|24882528|25173340|25356965|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876;DATES_ORDERED=2007-10-15
16 30097630 . C T . . START=30097630;STOP=30097630;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=255673;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.1227G>A;HGVS_P=NP_004599.2:p.Pro409_eq_;MOLECULAR_CONSEQUENCE=NM_004608.3:c.1227G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=25564734;ORIGIN=germline;XREFS=Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22
16 30102802 . T C . . START=30102802;STOP=30102802;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=418555;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.-48-240A>G;MOLECULAR_CONSEQUENCE=NM_004608.3:c.-48-240A>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_22..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=25564734;ORIGIN=germline;XREFS=Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22
16 30103160 . C A . . START=30103160;STOP=30103160;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=185945;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.-49+34G>T;MOLECULAR_CONSEQUENCE=NM_004608.3:c.-49+34G>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_22..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=25564734;ORIGIN=germline;XREFS=Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22
16 47730319 . T C . . START=47730319;STOP=47730319;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13621;RCV=RCV000014591;SCV=SCV000034845;ALLELE_ID=28660;SYMBOL=PHKB;HGVS_C=NM_000293.2:c.2923T>C;HGVS_P=NP_000284.1:p.Tyr975His;MOLECULAR_CONSEQUENCE=NM_000293.2:c.2923T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glycogen_storage_disease_IXb|GLYCOGEN_STORAGE_DISEASE_IXb;ALL_PMIDS=21634085|9215682;ORIGIN=germline;XREFS=GeneReviews:NBK55061|Genetic_Alliance:Glycogen+storage+disease+IXb/8483|MedGen:C1849812|OMIM:261750|Orphanet:79240;DATES_ORDERED=1997-07-01
16 47730322 . G T . . START=47730322;STOP=47730322;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13621;RCV=RCV000014591;SCV=SCV000034845;ALLELE_ID=38463;SYMBOL=PHKB;HGVS_C=NM_000293.2:c.2926G>T;HGVS_P=NP_000284.1:p.Glu976Ter;MOLECULAR_CONSEQUENCE=NM_000293.2:c.2926G>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glycogen_storage_disease_IXb|GLYCOGEN_STORAGE_DISEASE_IXb;ALL_PMIDS=21634085|9215682;ORIGIN=germline;XREFS=GeneReviews:NBK55061|Genetic_Alliance:Glycogen+storage+disease+IXb/8483|MedGen:C1849812|OMIM:261750|Orphanet:79240;DATES_ORDERED=1997-07-01
16 56902267 . C T . . START=56902267;STOP=56902267;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=8596;RCV=RCV000009127;SCV=SCV000029344;ALLELE_ID=23635;SYMBOL=SLC12A3;HGVS_C=NM_000339.2:c.488C>T;HGVS_P=NP_000330.2:p.Thr163Met;MOLECULAR_CONSEQUENCE=NM_000339.2:c.488C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_26..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_hypokalemia-hypomagnesemia|GITELMAN_SYNDROME;ALL_PMIDS=17000984|21343949;ORIGIN=germline;XREFS=Genetic_Alliance:Familial+hypokalemia-hypomagnesemia/8399|MedGen:C0268450|OMIM:263800|Orphanet:358|SNOMED_CT:3188003;DATES_ORDERED=2006-09-26
16 56928506 . G A . . START=56928506;STOP=56928506;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=8596;RCV=RCV000009127;SCV=SCV000029344;ALLELE_ID=38443;SYMBOL=SLC12A3;HGVS_C=NM_000339.2:c.2612G>A;HGVS_P=NP_000330.2:p.Arg871His;MOLECULAR_CONSEQUENCE=NM_000339.2:c.2612G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_26..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_hypokalemia-hypomagnesemia|GITELMAN_SYNDROME;ALL_PMIDS=17000984|21343949;ORIGIN=germline;XREFS=Genetic_Alliance:Familial+hypokalemia-hypomagnesemia/8399|MedGen:C0268450|OMIM:263800|Orphanet:358|SNOMED_CT:3188003;DATES_ORDERED=2006-09-26
16 67976470 . G A . . START=67976470;STOP=67976470;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3667;RCV=RCV000003852;SCV=SCV000024017;ALLELE_ID=38429;SYMBOL=LCAT;HGVS_C=NM_000229.1:c.544C>T;HGVS_P=NP_000220.1:p.Arg182Cys;MOLECULAR_CONSEQUENCE=NM_000229.1:c.544C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Norum_disease|LCAT_DEFICIENCY;ALL_PMIDS=8432868;ORIGIN=germline;XREFS=Genetic_Alliance:Norum+disease/5271|MedGen:C0023195|OMIM:245900|Office_of_Rare_Diseases:4011|Orphanet:650|Orphanet:79293;DATES_ORDERED=1993-02-01
16 67976842 . C T . . START=67976842;STOP=67976842;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3667;RCV=RCV000003852;SCV=SCV000024017;ALLELE_ID=18706;SYMBOL=LCAT;HGVS_C=NM_000229.1:c.349G>A;HGVS_P=NP_000220.1:p.Ala117Thr;MOLECULAR_CONSEQUENCE=NM_000229.1:c.349G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Norum_disease|LCAT_DEFICIENCY;ALL_PMIDS=8432868;ORIGIN=germline;XREFS=Genetic_Alliance:Norum+disease/5271|MedGen:C0023195|OMIM:245900|Office_of_Rare_Diseases:4011|Orphanet:650|Orphanet:79293;DATES_ORDERED=1993-02-01
16 88786582 . G A . . START=88786582;STOP=88786582;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55809;RCV=RCV000049235;SCV=SCV000077488;ALLELE_ID=70465;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.6059C>T;HGVS_P=NP_001136336.2:p.Ala2020Val;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.6059C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_09..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS;ALL_PMIDS=23479567|9718354;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-05-09
16 88793552 . G A . . START=88793552;STOP=88793552;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55809;RCV=RCV000049235;SCV=SCV000077488;ALLELE_ID=70466;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.3350C>T;HGVS_P=NP_001136336.2:p.Ser1117Leu;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.3350C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_09..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS;ALL_PMIDS=23479567|9718354;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-05-09
16 88800060 . C T . . START=88800060;STOP=88800060;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70476;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.2423G>A;HGVS_P=NP_001136336.2:p.Arg808Gln;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.2423G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-07-02
16 88800139 . C T . . START=88800139;STOP=88800139;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70475;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.2344G>A;HGVS_P=NP_001136336.2:p.Gly782Ser;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.2344G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-07-02
16 88801252 . G C . . START=88801252;STOP=88801252;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70469;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.1848+31C>G;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.1848+31C>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-07-02
17 7918017 . G C . . START=7918017;STOP=7918017;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=9354|9356;RCV=RCV000009948|RCV000009950;SCV=SCV000030169|SCV000030171;ALLELE_ID=24393;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2511G>C;HGVS_P=NP_000171.1:p.Glu837Asp;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2511G>C:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10647719|11565546|9097965|9618177|9683616;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=2000-01-01|1998-08-01
17 7918018 . C A . . START=7918018;STOP=7918018;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=9354;RCV=RCV000009948;SCV=SCV000030169;ALLELE_ID=38445;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2512C>A;HGVS_P=NP_000171.1:p.Arg838Ser;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2512C>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10647719|11565546|9097965|9618177;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=2000-01-01
17 7918018 . C T . . START=7918018;STOP=7918018;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=9356;RCV=RCV000009950;SCV=SCV000030171;ALLELE_ID=24394;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2512C>T;HGVS_P=NP_000171.1:p.Arg838Cys;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2512C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2003;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=9683616;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=1998-08-01
17 7918022 . C T . . START=7918022;STOP=7918022;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=9356;RCV=RCV000009950;SCV=SCV000030171;ALLELE_ID=38391;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2516C>T;HGVS_P=NP_000171.1:p.Thr839Met;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2516C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=9683616;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=1998-08-01
17 17118608 . G TC . . START=17118608;STOP=17118608;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3377;RCV=RCV000003544;SCV=SCV000023702;ALLELE_ID=243924;SYMBOL=FLCN;HGVS_C=NM_144997.5:c.1323delCinsGA;HGVS_P=NP_659434.2:p.His442Thrfs;MOLECULAR_CONSEQUENCE=NM_144997.5:c.1323delCinsGA:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_fibrofolliculomas|BIRT-HOGG-DUBE_SYNDROME;ALL_PMIDS=19320655|19562744|20301695|24319509|25394175;ORIGIN=germline;XREFS=GeneReviews:NBK1522|Genetic_Alliance:Multiple+fibrofolliculomas/8920|Genetics_Home_Reference:birt-hogg-dube-syndrome|MedGen:C0346010|OMIM:135150|Office_of_Rare_Diseases:2322|Orphanet:122|SNOMED_CT:110985001;DATES_ORDERED=2009-09-01
17 17118626 . AAACTCTGTAAC A . . START=17118627;STOP=17118637;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3377;RCV=RCV000003544;SCV=SCV000023702;ALLELE_ID=18416;SYMBOL=FLCN;HGVS_C=NM_144997.5:c.1301-7_1304delGTTACAGAGTT;MOLECULAR_CONSEQUENCE=NM_144997.5:c.1301-7_1304delGTTACAGAGTT:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_fibrofolliculomas|BIRT-HOGG-DUBE_SYNDROME;ALL_PMIDS=19320655|19562744|20301695|24319509|25394175;ORIGIN=germline;XREFS=GeneReviews:NBK1522|Genetic_Alliance:Multiple+fibrofolliculomas/8920|Genetics_Home_Reference:birt-hogg-dube-syndrome|MedGen:C0346010|OMIM:135150|Office_of_Rare_Diseases:2322|Orphanet:122|SNOMED_CT:110985001;DATES_ORDERED=2009-09-01
17 19561110 . G A . . START=19561110;STOP=19561110;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=438264;RCV=RCV000504796;SCV=SCV000598618;ALLELE_ID=260161;SYMBOL=ALDH3A2;HGVS_C=NM_000382.2:c.733G>A;HGVS_P=NP_000373.1:p.Asp245Asn;MOLECULAR_CONSEQUENCE=NM_000382.2:c.733G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Rizzo_Lab..University_of_Nebraska_Medical_Center;SUBMITTERS_ORDERED=Rizzo_Lab..University_of_Nebraska_Medical_Center;ALL_TRAITS=Sjögren-Larsson_syndrome|Ichthyosis|Spasticity|Intellectual_disability|Sjogren-Larsson_syndrome;ALL_PMIDS=10577908;ORIGIN=germline;XREFS=Genetic_Alliance:Sjogren-Larsson+syndrome/6627|Genetics_Home_Reference:sjogren-larsson-syndrome|MedGen:C0037231|OMIM:270200|Office_of_Rare_Diseases:7654|Orphanet:816|SNOMED_CT:111303009;DATES_ORDERED=2017-06-01
17 19564542 . G C . . START=19564542;STOP=19564542;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=438264;RCV=RCV000504796;SCV=SCV000598618;ALLELE_ID=431886;SYMBOL=ALDH3A2;HGVS_C=NM_000382.2:c.901G>C;HGVS_P=NP_000373.1:p.Ala301Pro;MOLECULAR_CONSEQUENCE=NM_000382.2:c.901G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Rizzo_Lab..University_of_Nebraska_Medical_Center;SUBMITTERS_ORDERED=Rizzo_Lab..University_of_Nebraska_Medical_Center;ALL_TRAITS=Sjögren-Larsson_syndrome|Ichthyosis|Spasticity|Intellectual_disability|Sjogren-Larsson_syndrome;ALL_PMIDS=10577908;ORIGIN=germline;XREFS=Genetic_Alliance:Sjogren-Larsson+syndrome/6627|Genetics_Home_Reference:sjogren-larsson-syndrome|MedGen:C0037231|OMIM:270200|Office_of_Rare_Diseases:7654|Orphanet:816|SNOMED_CT:111303009;DATES_ORDERED=2017-06-01
17 19564543 . CT C . . START=19564547;STOP=19564547;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=438264;RCV=RCV000504796;SCV=SCV000598618;ALLELE_ID=431887;SYMBOL=ALDH3A2;HGVS_C=NM_000382.2:c.906delT;HGVS_P=NP_000373.1:p.Phe302Leufs;MOLECULAR_CONSEQUENCE=NM_000382.2:c.906delT:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Rizzo_Lab..University_of_Nebraska_Medical_Center;SUBMITTERS_ORDERED=Rizzo_Lab..University_of_Nebraska_Medical_Center;ALL_TRAITS=Sjögren-Larsson_syndrome|Ichthyosis|Spasticity|Intellectual_disability|Sjogren-Larsson_syndrome;ALL_PMIDS=10577908;ORIGIN=germline;XREFS=Genetic_Alliance:Sjogren-Larsson+syndrome/6627|Genetics_Home_Reference:sjogren-larsson-syndrome|MedGen:C0037231|OMIM:270200|Office_of_Rare_Diseases:7654|Orphanet:816|SNOMED_CT:111303009;DATES_ORDERED=2017-06-01
17 19564550 . T G . . START=19564550;STOP=19564550;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=438264;RCV=RCV000504796;SCV=SCV000598618;ALLELE_ID=431888;SYMBOL=ALDH3A2;HGVS_C=NM_000382.2:c.909T>G;HGVS_P=NP_000373.1:p.Gly303_eq_;MOLECULAR_CONSEQUENCE=NM_000382.2:c.909T>G:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Rizzo_Lab..University_of_Nebraska_Medical_Center;SUBMITTERS_ORDERED=Rizzo_Lab..University_of_Nebraska_Medical_Center;ALL_TRAITS=Sjögren-Larsson_syndrome|Ichthyosis|Spasticity|Intellectual_disability|Sjogren-Larsson_syndrome;ALL_PMIDS=10577908;ORIGIN=germline;XREFS=Genetic_Alliance:Sjogren-Larsson+syndrome/6627|Genetics_Home_Reference:sjogren-larsson-syndrome|MedGen:C0037231|OMIM:270200|Office_of_Rare_Diseases:7654|Orphanet:816|SNOMED_CT:111303009;DATES_ORDERED=2017-06-01
17 29577934 . TA T . . START=29577935;STOP=29577935;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217112;RCV=RCV000200907;SCV=SCV000255592;ALLELE_ID=213715;SYMBOL=NF1;HGVS_C=NM_001042492.2:c.4110+1798del;MOLECULAR_CONSEQUENCE=NM_000267.3:c.4110+1798del:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Medical_Genomics_Laboratory..Department_of_Genetics_UAB;SUBMITTERS_ORDERED=Medical_Genomics_Laboratory..Department_of_Genetics_UAB;ALL_TRAITS=Neurofibromatosis..type_1|Neurofibromatosis..type_1;ALL_PMIDS=15604628|17636453|20065170|20301288|20301471|24893135|26189818;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1109|Genetic_Alliance:Neurofibromatosis+type+1/5174|Genetic_Testing_Registry_(GTR):GTR000260605|Genetic_Testing_Registry_(GTR):GTR000335545|Genetic_Testing_Registry_(GTR):GTR000500115|Genetic_Testing_Registry_(GTR):GTR000500672|Genetic_Testing_Registry_(GTR):GTR000500881|Genetic_Testing_Registry_(GTR):GTR000500970|Genetic_Testing_Registry_(GTR):GTR000500971|Genetic_Testing_Registry_(GTR):GTR000500972|Genetic_Testing_Registry_(GTR):GTR000501087|Genetic_Testing_Registry_(GTR):GTR000501088|Genetic_Testing_Registry_(GTR):GTR000509686|Genetic_Testing_Registry_(GTR):GTR000510677|Genetic_Testing_Registry_(GTR):GTR000510679|Genetic_Testing_Registry_(GTR):GTR000511186|Genetic_Testing_Registry_(GTR):GTR000511188|Genetic_Testing_Registry_(GTR):GTR000514608|Genetic_Testing_Registry_(GTR):GTR000514913|Genetic_Testing_Registry_(GTR):GTR000514981|Genetic_Testing_Registry_(GTR):GTR000515566|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520393|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000521399|Genetic_Testing_Registry_(GTR):GTR000521505|Genetic_Testing_Registry_(GTR):GTR000521546|Genetic_Testing_Registry_(GTR):GTR000522322|Genetic_Testing_Registry_(GTR):GTR000528459|Genetic_Testing_Registry_(GTR):GTR000528529|Genetic_Testing_Registry_(GTR):GTR000528533|Genetic_Testing_Registry_(GTR):GTR000528913|Genetic_Testing_Registry_(GTR):GTR000528930|Genetic_Testing_Registry_(GTR):GTR000529017|Genetic_Testing_Registry_(GTR):GTR000529068|Genetic_Testing_Registry_(GTR):GTR000551630|Genetic_Testing_Registry_(GTR):GTR000552183|Genetic_Testing_Registry_(GTR):GTR000552305|Genetic_Testing_Registry_(GTR):GTR000556576|MedGen:C0027831|OMIM:162200|OMIM:613113.0001|OMIM:613113.0002|OMIM:613113.0003|OMIM:613113.0004|OMIM:613113.0005|OMIM:613113.0006|OMIM:613113.0007|OMIM:613113.0008|OMIM:613113.0009|OMIM:613113.0012|OMIM:613113.0013|OMIM:613113.0014|OMIM:613113.0015|OMIM:613113.0016|OMIM:613113.0021|OMIM:613113.0022|OMIM:613113.0023|OMIM:613113.0024|OMIM:613113.0025|OMIM:613113.0026|OMIM:613113.0027|OMIM:613113.0029|OMIM:613113.0030|OMIM:613113.0031|OMIM:613113.0032|OMIM:613113.0037|OMIM:613113.0038|OMIM:613113.0040|OMIM:613113.0041|OMIM:613113.0042|OMIM:613113.0043|OMIM:613113.0044|OMIM:613113.0046|Office_of_Rare_Diseases:7866|Orphanet:636|Programa_de_Pós-Graduação_em_Ciências_Genômicas_e_Biotecnologia..Universidade_Católica_de_Brasília:R34|SNOMED_CT:92824003;DATES_ORDERED=0000-00-00
17 41247892 . T C . . START=41247892;STOP=41247892;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236265;RCV=RCV000225499;SCV=SCV000282252;ALLELE_ID=46245;SYMBOL=BRCA1;HGVS_C=NM_007294.3:c.641A>G;HGVS_P=NP_009225.1:p.Asp214Gly;MOLECULAR_CONSEQUENCE=NM_007294.3:c.641A>G:missense_variant|NR_027676.1:n.777A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);SUBMITTERS_ORDERED=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);ALL_TRAITS=Breast-ovarian_cancer..familial_1;ALL_PMIDS=1|10|15604628|17392385|17508274|17924331|19305347|20|20065170|20301425|23188549|23788249|23918944|24366376|24366402|24432435|24493721|25356965|25394175|27008870|27854360|3|548|70;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1247|Genetic_Alliance:Breast-ovarian+cancer%2C+familial+1/7865|Genetic_Testing_Registry_(GTR):GTR000017876|Genetic_Testing_Registry_(GTR):GTR000021517|Genetic_Testing_Registry_(GTR):GTR000320777|Genetic_Testing_Registry_(GTR):GTR000325409|Genetic_Testing_Registry_(GTR):GTR000330054|Genetic_Testing_Registry_(GTR):GTR000501196|Genetic_Testing_Registry_(GTR):GTR000501743|Genetic_Testing_Registry_(GTR):GTR000501746|Genetic_Testing_Registry_(GTR):GTR000501817|Genetic_Testing_Registry_(GTR):GTR000505644|Genetic_Testing_Registry_(GTR):GTR000507653|Genetic_Testing_Registry_(GTR):GTR000507764|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507913|Genetic_Testing_Registry_(GTR):GTR000507930|Genetic_Testing_Registry_(GTR):GTR000509001|Genetic_Testing_Registry_(GTR):GTR000509002|Genetic_Testing_Registry_(GTR):GTR000509348|Genetic_Testing_Registry_(GTR):GTR000509349|Genetic_Testing_Registry_(GTR):GTR000509363|Genetic_Testing_Registry_(GTR):GTR000509450|Genetic_Testing_Registry_(GTR):GTR000509451|Genetic_Testing_Registry_(GTR):GTR000509692|Genetic_Testing_Registry_(GTR):GTR000509980|Genetic_Testing_Registry_(GTR):GTR000509982|Genetic_Testing_Registry_(GTR):GTR000509983|Genetic_Testing_Registry_(GTR):GTR000512320|Genetic_Testing_Registry_(GTR):GTR000512644|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000512816|Genetic_Testing_Registry_(GTR):GTR000514601|Genetic_Testing_Registry_(GTR):GTR000519030|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520071|Genetic_Testing_Registry_(GTR):GTR000520072|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520866|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520871|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521908|Genetic_Testing_Registry_(GTR):GTR000522159|Genetic_Testing_Registry_(GTR):GTR000522160|Genetic_Testing_Registry_(GTR):GTR000522161|Genetic_Testing_Registry_(GTR):GTR000522162|Genetic_Testing_Registry_(GTR):GTR000522243|Genetic_Testing_Registry_(GTR):GTR000527942|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000528916|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000531275|Genetic_Testing_Registry_(GTR):GTR000551440|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552304|Genetics_Home_Reference:ovarian-cancer|MedGen:C2676676|OMIM:113705.0001|OMIM:113705.0002|OMIM:113705.0003|OMIM:113705.0004|OMIM:113705.0005|OMIM:113705.0006|OMIM:113705.0007|OMIM:113705.0008|OMIM:113705.0009|OMIM:113705.0010|OMIM:113705.0012|OMIM:113705.0013|OMIM:113705.0014|OMIM:113705.0015|OMIM:113705.0016|OMIM:113705.0017|OMIM:113705.0018|OMIM:113705.0019|OMIM:113705.0020|OMIM:113705.0021|OMIM:113705.0023|OMIM:113705.0024|OMIM:113705.0025|OMIM:113705.0026|OMIM:113705.0027|OMIM:113705.0028|OMIM:113705.0029|OMIM:113705.0030|OMIM:113705.0031|OMIM:113705.0032|OMIM:113705.0033|OMIM:113705.0034|OMIM:113705.0035|OMIM:113705.0036|OMIM:113705.0037|OMIM:602667.0001|OMIM:604370|Orphanet:145;DATES_ORDERED=2016-04-15
17 41247941 . T G . . START=41247941;STOP=41247941;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236265;RCV=RCV000225499;SCV=SCV000282252;ALLELE_ID=46242;SYMBOL=BRCA1;HGVS_C=NM_007294.3:c.594-2A>C;MOLECULAR_CONSEQUENCE=NM_007294.3:c.594-2A>C:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);SUBMITTERS_ORDERED=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);ALL_TRAITS=Breast-ovarian_cancer..familial_1;ALL_PMIDS=1|10|15604628|17392385|17508274|17924331|19305347|20|20065170|20301425|23188549|23788249|23918944|24366376|24366402|24432435|24493721|25356965|25394175|27008870|27854360|3|548|70;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1247|Genetic_Alliance:Breast-ovarian+cancer%2C+familial+1/7865|Genetic_Testing_Registry_(GTR):GTR000017876|Genetic_Testing_Registry_(GTR):GTR000021517|Genetic_Testing_Registry_(GTR):GTR000320777|Genetic_Testing_Registry_(GTR):GTR000325409|Genetic_Testing_Registry_(GTR):GTR000330054|Genetic_Testing_Registry_(GTR):GTR000501196|Genetic_Testing_Registry_(GTR):GTR000501743|Genetic_Testing_Registry_(GTR):GTR000501746|Genetic_Testing_Registry_(GTR):GTR000501817|Genetic_Testing_Registry_(GTR):GTR000505644|Genetic_Testing_Registry_(GTR):GTR000507653|Genetic_Testing_Registry_(GTR):GTR000507764|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507913|Genetic_Testing_Registry_(GTR):GTR000507930|Genetic_Testing_Registry_(GTR):GTR000509001|Genetic_Testing_Registry_(GTR):GTR000509002|Genetic_Testing_Registry_(GTR):GTR000509348|Genetic_Testing_Registry_(GTR):GTR000509349|Genetic_Testing_Registry_(GTR):GTR000509363|Genetic_Testing_Registry_(GTR):GTR000509450|Genetic_Testing_Registry_(GTR):GTR000509451|Genetic_Testing_Registry_(GTR):GTR000509692|Genetic_Testing_Registry_(GTR):GTR000509980|Genetic_Testing_Registry_(GTR):GTR000509982|Genetic_Testing_Registry_(GTR):GTR000509983|Genetic_Testing_Registry_(GTR):GTR000512320|Genetic_Testing_Registry_(GTR):GTR000512644|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000512816|Genetic_Testing_Registry_(GTR):GTR000514601|Genetic_Testing_Registry_(GTR):GTR000519030|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520071|Genetic_Testing_Registry_(GTR):GTR000520072|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520866|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520871|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521908|Genetic_Testing_Registry_(GTR):GTR000522159|Genetic_Testing_Registry_(GTR):GTR000522160|Genetic_Testing_Registry_(GTR):GTR000522161|Genetic_Testing_Registry_(GTR):GTR000522162|Genetic_Testing_Registry_(GTR):GTR000522243|Genetic_Testing_Registry_(GTR):GTR000527942|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000528916|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000531275|Genetic_Testing_Registry_(GTR):GTR000551440|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552304|Genetics_Home_Reference:ovarian-cancer|MedGen:C2676676|OMIM:113705.0001|OMIM:113705.0002|OMIM:113705.0003|OMIM:113705.0004|OMIM:113705.0005|OMIM:113705.0006|OMIM:113705.0007|OMIM:113705.0008|OMIM:113705.0009|OMIM:113705.0010|OMIM:113705.0012|OMIM:113705.0013|OMIM:113705.0014|OMIM:113705.0015|OMIM:113705.0016|OMIM:113705.0017|OMIM:113705.0018|OMIM:113705.0019|OMIM:113705.0020|OMIM:113705.0021|OMIM:113705.0023|OMIM:113705.0024|OMIM:113705.0025|OMIM:113705.0026|OMIM:113705.0027|OMIM:113705.0028|OMIM:113705.0029|OMIM:113705.0030|OMIM:113705.0031|OMIM:113705.0032|OMIM:113705.0033|OMIM:113705.0034|OMIM:113705.0035|OMIM:113705.0036|OMIM:113705.0037|OMIM:602667.0001|OMIM:604370|Orphanet:145;DATES_ORDERED=2016-04-15
17 42988737 . C T . . START=42988737;STOP=42988737;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190352;RCV=RCV000192152;SCV=SCV000223016;ALLELE_ID=77412;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.994G>A;HGVS_P=NP_002046.1:p.Glu332Lys;MOLECULAR_CONSEQUENCE=NM_002055.4:c.994G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=18004641|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08
17 42988743 . G C . . START=42988743;STOP=42988743;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190352;RCV=RCV000192152;SCV=SCV000223016;ALLELE_ID=77410;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.988C>G;HGVS_P=NP_002046.1:p.Arg330Gly;MOLECULAR_CONSEQUENCE=NM_002055.4:c.988C>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=18004641|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08
17 42990750 . C G . . START=42990750;STOP=42990750;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190336;RCV=RCV000192110;SCV=SCV000222969;ALLELE_ID=77391;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.667G>C;HGVS_P=NP_002046.1:p.Glu223Gln;MOLECULAR_CONSEQUENCE=NM_002055.4:c.667G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=14707518|15060693|19444543|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08
17 42992619 . C T . . START=42992619;STOP=42992619;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190336;RCV=RCV000192110;SCV=SCV000222969;ALLELE_ID=31209;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.236G>A;HGVS_P=NP_002046.1:p.Arg79His;MOLECULAR_CONSEQUENCE=NM_002055.4:c.236G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=14707518|15060693|19444543|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08
17 62019163 . C T . . START=62019163;STOP=62019163;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=21158;RCV=RCV000020275;SCV=SCV000040630;ALLELE_ID=34011;SYMBOL=SCN4A;HGVS_C=NM_000334.4:c.4479G>A;HGVS_P=NP_000325.4:p.Met1493Ile;MOLECULAR_CONSEQUENCE=NM_000334.4:c.4479G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_28..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Hyperkalemic_Periodic_Paralysis_Type_1;ALL_PMIDS=10930446|20298421|20301669;ORIGIN=germline;XREFS=GeneReviews:NBK1496|GeneTests:2133|Genetic_Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591|MedGen:CN074266|OMIM:170500|Orphanet:682;DATES_ORDERED=2016-01-28
17 62019174 . A G . . START=62019174;STOP=62019174;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=21158;RCV=RCV000020275;SCV=SCV000040630;ALLELE_ID=34010;SYMBOL=SCN4A;HGVS_C=NM_000334.4:c.4468T>C;HGVS_P=NP_000325.4:p.Phe1490Leu;MOLECULAR_CONSEQUENCE=NM_000334.4:c.4468T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_28..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Hyperkalemic_Periodic_Paralysis_Type_1;ALL_PMIDS=10930446|20298421|20301669;ORIGIN=germline;XREFS=GeneReviews:NBK1496|GeneTests:2133|Genetic_Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591|MedGen:CN074266|OMIM:170500|Orphanet:682;DATES_ORDERED=2016-01-28
17 73513145 . T C . . START=73513145;STOP=73513145;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2121;RCV=RCV000002203;SCV=SCV000022361;ALLELE_ID=38422;SYMBOL=TSEN54;HGVS_C=NM_207346.2:c.277T>C;HGVS_P=NP_997229.2:p.Ser93Pro;MOLECULAR_CONSEQUENCE=NM_207346.2:c.277T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_08..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pontocerebellar_hypoplasia_type_4|PONTOCEREBELLAR_HYPOPLASIA..TYPE_4;ALL_PMIDS=18711368|20301773;ORIGIN=germline;XREFS=GeneReviews:NBK9673|Genetic_Alliance:Pontocerebellar+hypoplasia+type+4/5866|MedGen:C1856974|OMIM:225753|Office_of_Rare_Diseases:343|Orphanet:166063;DATES_ORDERED=2008-09-01
17 73518081 . G T . . START=73518081;STOP=73518081;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2121;RCV=RCV000002203;SCV=SCV000022361;ALLELE_ID=17159;SYMBOL=TSEN54;HGVS_C=NM_207346.2:c.919G>T;HGVS_P=NP_997229.2:p.Ala307Ser;MOLECULAR_CONSEQUENCE=NM_207346.2:c.919G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pontocerebellar_hypoplasia_type_4|PONTOCEREBELLAR_HYPOPLASIA..TYPE_4;ALL_PMIDS=18711368|20301773;ORIGIN=germline;XREFS=GeneReviews:NBK9673|Genetic_Alliance:Pontocerebellar+hypoplasia+type+4/5866|MedGen:C1856974|OMIM:225753|Office_of_Rare_Diseases:343|Orphanet:166063;DATES_ORDERED=2008-09-01
18 3215156 . CAC GAG . . START=3215156;STOP=3215158;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=229030;RCV=RCV000221703;SCV=SCV000272178;ALLELE_ID=230906;SYMBOL=MYOM1;HGVS_C=NM_003803.3:c.64_66delGTGinsCTC;HGVS_P=NP_003794.3:p.Val22Leu;MOLECULAR_CONSEQUENCE=NM_003803.3:c.64_66delGTGinsCTC:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_08..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-08
18 3215157 . A C . . START=3215157;STOP=3215157;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=229030;RCV=RCV000221703;SCV=SCV000272178;ALLELE_ID=230904;SYMBOL=MYOM1;HGVS_C=NM_003803.3:c.65T>G;HGVS_P=NP_003794.3:p.Val22Gly;MOLECULAR_CONSEQUENCE=NM_003803.3:c.65T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_08..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-08
18 43445579 . C G . . START=43445579;STOP=43445579;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267449;RCV=RCV000496979;SCV=SCV000328418;ALLELE_ID=262702;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.6766+1G>C;MOLECULAR_CONSEQUENCE=NM_020964.2:c.6766+1G>C:splice_donor_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43459054 . CA C . . START=43459055;STOP=43459055;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267444;RCV=RCV000496982;SCV=SCV000328413;ALLELE_ID=262703;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.5792delT;HGVS_P=NP_066015.2:p.Leu1931Trpfs;MOLECULAR_CONSEQUENCE=NM_020964.2:c.5792delT:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43488022 . C T . . START=43488022;STOP=43488022;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267445;RCV=RCV000496976;SCV=SCV000328414;ALLELE_ID=262704;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.4230G>A;HGVS_P=NP_066015.2:p.Trp1410Ter;MOLECULAR_CONSEQUENCE=NM_020964.2:c.4230G>A:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43490582 . AG A . . START=43490583;STOP=43490583;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267447;RCV=RCV000496985;SCV=SCV000328416;ALLELE_ID=262705;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.4108delC;HGVS_P=NP_066015.2:p.Leu1370Serfs;MOLECULAR_CONSEQUENCE=NM_020964.2:c.4108delC:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43495974 . C T . . START=43495974;STOP=43495974;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267446;RCV=RCV000496981;SCV=SCV000328415;ALLELE_ID=262712;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.3582G>A;HGVS_P=NP_066015.2:p.Lys1194_eq_;MOLECULAR_CONSEQUENCE=NM_020964.2:c.3582G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43497731 . G C . . START=43497731;STOP=43497731;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267445;RCV=RCV000496976;SCV=SCV000328414;ALLELE_ID=262706;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.3152C>G;HGVS_P=NP_066015.2:p.Ser1051Ter;MOLECULAR_CONSEQUENCE=NM_020964.2:c.3152C>G:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43502361 . G A . . START=43502361;STOP=43502361;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267449;RCV=RCV000496979;SCV=SCV000328418;ALLELE_ID=262707;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.3044C>T;HGVS_P=NP_066015.2:p.Ala1015Val;MOLECULAR_CONSEQUENCE=NM_020964.2:c.3044C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43505824 . T C . . START=43505824;STOP=43505824;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267448;RCV=RCV000496977;SCV=SCV000328417;ALLELE_ID=262708;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.2598A>G;HGVS_P=NP_066015.2:p.Gln866_eq_;MOLECULAR_CONSEQUENCE=NM_020964.2:c.2598A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43508927 . G A . . START=43508927;STOP=43508927;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267446;RCV=RCV000496981;SCV=SCV000328415;ALLELE_ID=262711;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.2461C>T;HGVS_P=NP_066015.2:p.Arg821Ter;MOLECULAR_CONSEQUENCE=NM_020964.2:c.2461C>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43532429 . TG T . . START=43532430;STOP=43532430;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267448;RCV=RCV000496977;SCV=SCV000328417;ALLELE_ID=262709;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.1188delC;HGVS_P=NP_066015.2:p.Tyr396Terfs;MOLECULAR_CONSEQUENCE=NM_020964.2:c.1188delC:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43547204 . A G . . START=43547204;STOP=43547204;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267444;RCV=RCV000496982;SCV=SCV000328413;ALLELE_ID=262710;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.2T>C;HGVS_P=NP_066015.2:p.Met1Thr;MOLECULAR_CONSEQUENCE=NM_020964.2:c.2T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 43547205 . T C . . START=43547205;STOP=43547205;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267447;RCV=RCV000496985;SCV=SCV000328416;ALLELE_ID=262713;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.1A>G;HGVS_P=NP_066015.2:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_020964.2:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11
18 50994293 . A G . . START=50994293;STOP=50994293;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=375288;RCV=RCV000416369;SCV=SCV000485060;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Neurogenetics_Research..Murdoch_Childrens_Research_Institute;SUBMITTERS_ORDERED=Neurogenetics_Research..Murdoch_Childrens_Research_Institute;ALL_TRAITS=Corpus_callosum_agenesis;ORIGIN=germline;XREFS=Genetic_Alliance:Agenesis+of+the+Corpus+Callosum/263|MedGen:C0175754|OMIM:217990|Office_of_Rare_Diseases:1535|Orphanet:200;DATES_ORDERED=2016-01-01
18 51013178 . G A . . START=51013178;STOP=51013178;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=375288;RCV=RCV000416369;SCV=SCV000485060;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Neurogenetics_Research..Murdoch_Childrens_Research_Institute;SUBMITTERS_ORDERED=Neurogenetics_Research..Murdoch_Childrens_Research_Institute;ALL_TRAITS=Corpus_callosum_agenesis;ORIGIN=germline;XREFS=Genetic_Alliance:Agenesis+of+the+Corpus+Callosum/263|MedGen:C0175754|OMIM:217990|Office_of_Rare_Diseases:1535|Orphanet:200;DATES_ORDERED=2016-01-01
18 55217985 . A C . . START=55217985;STOP=55217985;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=561;RCV=RCV000000591;SCV=SCV000020740;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_15..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Erythropoietic_protoporphyria|PROTOPORPHYRIA..ERYTHROPOIETIC;ALL_PMIDS=10942404|23016163;ORIGIN=germline;XREFS=GeneReviews:NBK100826|Genetic_Alliance:Erythropoietic+Protoporphyria/2648|MedGen:C0162568|OMIM:177000|Office_of_Rare_Diseases:4527|Orphanet:79278|SNOMED_CT:51022005;DATES_ORDERED=2000-08-15
18 55217991 . G A . . START=55217991;STOP=55217991;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=561;RCV=RCV000000591;SCV=SCV000020740;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_15..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Erythropoietic_protoporphyria|PROTOPORPHYRIA..ERYTHROPOIETIC;ALL_PMIDS=10942404|23016163;ORIGIN=germline;XREFS=GeneReviews:NBK100826|Genetic_Alliance:Erythropoietic+Protoporphyria/2648|MedGen:C0162568|OMIM:177000|Office_of_Rare_Diseases:4527|Orphanet:79278|SNOMED_CT:51022005;DATES_ORDERED=2000-08-15
18 55217992 . A T . . START=55217992;STOP=55217992;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=561;RCV=RCV000000591;SCV=SCV000020740;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_15..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Erythropoietic_protoporphyria|PROTOPORPHYRIA..ERYTHROPOIETIC;ALL_PMIDS=10942404|23016163;ORIGIN=germline;XREFS=GeneReviews:NBK100826|Genetic_Alliance:Erythropoietic+Protoporphyria/2648|MedGen:C0162568|OMIM:177000|Office_of_Rare_Diseases:4527|Orphanet:79278|SNOMED_CT:51022005;DATES_ORDERED=2000-08-15
19 853329 . G T . . START=853329;STOP=853329;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16747;RCV=RCV000018231;SCV=SCV000038510;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Severe_congenital_neutropenia_autosomal_dominant|NEUTROPENIA..SEVERE_CONGENITAL..1..AUTOSOMAL_DOMINANT;ALL_PMIDS=17436313|20301705;ORIGIN=germline;XREFS=GeneReviews:NBK1533|Genetic_Alliance:Severe+congenital+neutropenia+autosomal+dominant/6527|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;DATES_ORDERED=2007-09-01
19 853338 . G T . . START=853338;STOP=853338;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16747;RCV=RCV000018231;SCV=SCV000038510;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Severe_congenital_neutropenia_autosomal_dominant|NEUTROPENIA..SEVERE_CONGENITAL..1..AUTOSOMAL_DOMINANT;ALL_PMIDS=17436313|20301705;ORIGIN=germline;XREFS=GeneReviews:NBK1533|Genetic_Alliance:Severe+congenital+neutropenia+autosomal+dominant/6527|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;DATES_ORDERED=2007-09-01
19 863114 . T G . . START=863114;STOP=863114;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16565;RCV=RCV000018033;SCV=SCV000038312;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_15..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Complement_factor_d_deficiency|COMPLEMENT_FACTOR_D_DEFICIENCY;ALL_PMIDS=16527897;ORIGIN=germline;XREFS=Genetic_Alliance:Complement+factor+d+deficiency/8033|MedGen:C1851396|OMIM:613912;DATES_ORDERED=2006-06-15
19 863116 . T C . . START=863116;STOP=863116;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16565;RCV=RCV000018033;SCV=SCV000038312;ALLELE_ID=38479;SYMBOL=CFD;HGVS_C=NM_001928.3:c.640T>C;HGVS_P=NP_001919.2:p.Cys214Arg;MOLECULAR_CONSEQUENCE=NM_001928.3:c.640T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_15..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Complement_factor_d_deficiency|COMPLEMENT_FACTOR_D_DEFICIENCY;ALL_PMIDS=16527897;ORIGIN=germline;XREFS=Genetic_Alliance:Complement+factor+d+deficiency/8033|MedGen:C1851396|OMIM:613912;DATES_ORDERED=2006-06-15
19 5844343 . C T . . START=5844343;STOP=5844343;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17716;RCV=RCV000019289;SCV=SCV000039578;ALLELE_ID=38486;SYMBOL=FUT3;HGVS_C=NM_000149.3:c.508G>A;HGVS_P=NP_000140.1:p.Gly170Ser;MOLECULAR_CONSEQUENCE=NM_000149.3:c.508G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=association;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Le(-)_PHENOTYPE|Le(-)_PHENOTYPE;ALL_PMIDS=8219240;ORIGIN=germline;XREFS=OMIM:111100.0001;DATES_ORDERED=2015-05-18
19 5844792 . A C . . START=5844792;STOP=5844792;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17716;RCV=RCV000019289;SCV=SCV000039578;ALLELE_ID=32755;SYMBOL=FUT3;HGVS_C=NM_000149.3:c.59T>G;HGVS_P=NP_000140.1:p.Leu20Arg;MOLECULAR_CONSEQUENCE=NM_000149.3:c.59T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=association;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Le(-)_PHENOTYPE|Le(-)_PHENOTYPE;ALL_PMIDS=8219240;ORIGIN=germline;XREFS=OMIM:111100.0001;DATES_ORDERED=2015-05-18
19 7125392 . C T . . START=7125392;STOP=7125392;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377384;RCV=RCV000496626;SCV=SCV000503037;ALLELE_ID=364259;SYMBOL=INSR;HGVS_C=NM_000208.3:c.3160G>A;HGVS_P=NP_000199.2:p.Val1054Met;MOLECULAR_CONSEQUENCE=NM_000208.3:c.3160G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Insulin-resistant+diabetes+mellitus+AND+acanthosis+nigricans/8675|Genetics_Home_Reference:type-a-insulin-resistance-syndrome|MedGen:C0271690|OMIM:610549|Orphanet:2297|SNOMED_CT:9859006;DATES_ORDERED=2014-06-02
19 7126611 . A C . . START=7126611;STOP=7126611;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377383;RCV=RCV000496343;SCV=SCV000503036;ALLELE_ID=364260;SYMBOL=INSR;HGVS_C=NM_000208.3:c.2997T>G;HGVS_P=NP_000199.2:p.Tyr999Ter;MOLECULAR_CONSEQUENCE=NM_000208.3:c.2997T>G:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Pineal_hyperplasia_AND_diabetes_mellitus_syndrome;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Pineal+hyperplasia+AND+diabetes+mellitus+syndrome/9115|Genetics_Home_Reference:rabson-mendenhall-syndrome|MedGen:C0271695|OMIM:262190|Orphanet:769|SNOMED_CT:33559001;DATES_ORDERED=2014-06-02
19 7142844 . G A . . START=7142844;STOP=7142844;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377382;RCV=RCV000496805;SCV=SCV000503035;ALLELE_ID=364261;SYMBOL=INSR;HGVS_C=NM_000208.3:c.2525C>T;HGVS_P=NP_000199.2:p.Ala842Val;MOLECULAR_CONSEQUENCE=NM_000208.3:c.2525C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Pineal_hyperplasia_AND_diabetes_mellitus_syndrome;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Pineal+hyperplasia+AND+diabetes+mellitus+syndrome/9115|Genetics_Home_Reference:rabson-mendenhall-syndrome|MedGen:C0271695|OMIM:262190|Orphanet:769|SNOMED_CT:33559001;DATES_ORDERED=2014-06-02
19 7142865 . C A . . START=7142865;STOP=7142865;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377382;RCV=RCV000496805;SCV=SCV000503035;ALLELE_ID=364262;SYMBOL=INSR;HGVS_C=NM_000208.3:c.2504G>T;HGVS_P=NP_000199.2:p.Ser835Ile;MOLECULAR_CONSEQUENCE=NM_000208.3:c.2504G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Pineal_hyperplasia_AND_diabetes_mellitus_syndrome;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Pineal+hyperplasia+AND+diabetes+mellitus+syndrome/9115|Genetics_Home_Reference:rabson-mendenhall-syndrome|MedGen:C0271695|OMIM:262190|Orphanet:769|SNOMED_CT:33559001;DATES_ORDERED=2014-06-02
19 7163103 . C A . . START=7163103;STOP=7163103;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377381;RCV=RCV000496605;SCV=SCV000503034;ALLELE_ID=364263;SYMBOL=INSR;HGVS_C=NM_000208.3:c.1969G>T;HGVS_P=NP_000199.2:p.Val657Phe;MOLECULAR_CONSEQUENCE=NM_000208.3:c.1969G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Leprechaunism_syndrome;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Leprechaunism+syndrome/8731|Genetics_Home_Reference:donohue-syndrome|MedGen:C0265344|OMIM:246200|Orphanet:508|SNOMED_CT:111307005;DATES_ORDERED=2014-06-02
19 7170566 . T C . . START=7170566;STOP=7170566;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377384;RCV=RCV000496626;SCV=SCV000503037;ALLELE_ID=364264;SYMBOL=INSR;HGVS_C=NM_000208.3:c.1465A>G;HGVS_P=NP_000199.2:p.Asn489Asp;MOLECULAR_CONSEQUENCE=NM_000208.3:c.1465A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Insulin-resistant+diabetes+mellitus+AND+acanthosis+nigricans/8675|Genetics_Home_Reference:type-a-insulin-resistance-syndrome|MedGen:C0271690|OMIM:610549|Orphanet:2297|SNOMED_CT:9859006;DATES_ORDERED=2014-06-02
19 7184535 . G A . . START=7184535;STOP=7184535;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377383;RCV=RCV000496343;SCV=SCV000503036;ALLELE_ID=364265;SYMBOL=INSR;HGVS_C=NM_000208.3:c.766C>T;HGVS_P=NP_000199.2:p.Arg256Cys;MOLECULAR_CONSEQUENCE=NM_000208.3:c.766C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Pineal_hyperplasia_AND_diabetes_mellitus_syndrome;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Pineal+hyperplasia+AND+diabetes+mellitus+syndrome/9115|Genetics_Home_Reference:rabson-mendenhall-syndrome|MedGen:C0271695|OMIM:262190|Orphanet:769|SNOMED_CT:33559001;DATES_ORDERED=2014-06-02
19 10491186 . C T . . START=10491186;STOP=10491186;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434354;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-316G>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00
19 10491187 . C T . . START=10491187;STOP=10491187;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434355;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-317G>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00
19 10491248 . T C . . START=10491248;STOP=10491248;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=342540;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-378A>G;MOLECULAR_CONSEQUENCE=NM_003331.4:c.-378A>G:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00
19 10491352 . T G . . START=10491352;STOP=10491352;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434356;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-482A>C;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00
19 10492177 . A T . . START=10492177;STOP=10492177;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434357;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-1307T>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00
19 10492178 . C T . . START=10492178;STOP=10492178;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434358;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-1308G>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00
19 11216228 . T TGTGATG . . START=11216231;STOP=11216236;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=250923;RCV=RCV000238362;SCV=SCV000294356;ALLELE_ID=245688;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.649_654dupGATGGT;HGVS_P=NP_000518.1:p.Gly218_Gly219insAspGly;MOLECULAR_CONSEQUENCE=NM_000527.4:c.649_654dupGATGGT:inframe_variant|NM_001195800.1:c.314-1837_314-1832dup:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_25..2016;ALL_SUBMITTERS=LDLR-LOVD..British_Heart_Foundation;SUBMITTERS_ORDERED=LDLR-LOVD..British_Heart_Foundation;ALL_TRAITS=Familial_hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|27854360|7649546;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2016-03-25
19 11218079 . G A . . START=11218079;STOP=11218079;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430765;RCV=RCV000495914;SCV=SCV000583747;ALLELE_ID=181238;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.829G>A;HGVS_P=NP_000518.1:p.Glu277Lys;MOLECULAR_CONSEQUENCE=NM_000527.4:c.829G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|28145427;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30
19 11218182 . A G . . START=11218182;STOP=11218182;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430769;RCV=RCV000495938;SCV=SCV000583762;ALLELE_ID=245864;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.932A>G;HGVS_P=NP_000518.1:p.Lys311Arg;MOLECULAR_CONSEQUENCE=NM_000527.4:c.932A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30
19 11218189 . C G . . START=11218189;STOP=11218189;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430769;RCV=RCV000495938;SCV=SCV000583762;ALLELE_ID=245873;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.939C>G;HGVS_P=NP_000518.1:p.Cys313Trp;MOLECULAR_CONSEQUENCE=NM_000527.4:c.939C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30
19 11224035 . T C . . START=11224035;STOP=11224035;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430765;RCV=RCV000495914;SCV=SCV000583747;ALLELE_ID=246074;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.1268T>C;HGVS_P=NP_000518.1:p.Ile423Thr;MOLECULAR_CONSEQUENCE=NM_000527.4:c.1268T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|28145427;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30
19 11226873 . A C . . START=11226873;STOP=11226873;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3737;RCV=RCV000003935;SCV=SCV000024100|SCV000583862;ALLELE_ID=18776;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.1690A>C;HGVS_P=NP_000518.1:p.Asn564His;MOLECULAR_CONSEQUENCE=NM_000527.4:c.1690A>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=other|pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|FH_AARHUS|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=1439789|15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|8528204|9143924;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2012-05-04|2017-03-30
19 11230901 . A C . . START=11230901;STOP=11230901;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430800;RCV=RCV000495898;SCV=SCV000583944;ALLELE_ID=424334;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.1979A>C;HGVS_P=NP_000518.1:p.Gln660Pro;MOLECULAR_CONSEQUENCE=NM_000527.4:c.1979A>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30
19 11238731 . G A . . START=11238731;STOP=11238731;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430800;RCV=RCV000495898;SCV=SCV000583944;ALLELE_ID=424344;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.2359G>A;HGVS_P=NP_000518.1:p.Val787Met;MOLECULAR_CONSEQUENCE=NM_000527.4:c.2359G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30
19 11240191 . CTCCTCGTCT C . . START=11240196;STOP=11240204;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3737;RCV=RCV000003935;SCV=SCV000024100|SCV000583862;ALLELE_ID=71434;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.2397_2405delCGTCTTCCT;HGVS_P=NP_000518.1:p.Val800_Leu802del;MOLECULAR_CONSEQUENCE=NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=other|pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|FH_AARHUS|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=1439789|15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|8528204|9143924;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2012-05-04|2017-03-30
19 18705148 . A C . . START=18705148;STOP=18705148;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5706;RCV=RCV000006060;SCV=SCV000026242;ALLELE_ID=34280;SYMBOL=CRLF1;HGVS_C=NM_004750.4:c.1121T>G;HGVS_P=NP_004741.1:p.Leu374Arg;MOLECULAR_CONSEQUENCE=NM_004750.4:c.1121T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_03..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cold-induced_sweating_syndrome_1|COLD-INDUCED_SWEATING_SYNDROME_1;ALL_PMIDS=12509788|21370513;ORIGIN=germline;XREFS=GeneReviews:NBK52917|Genetic_Alliance:Cold-induced+sweating+syndrome+1/8000|Genetic_Alliance:Crisponi+Syndrome/2012|MedGen:C1848947|OMIM:272430|Orphanet:157820;DATES_ORDERED=2003-02-01
19 18710530 . C T . . START=18710530;STOP=18710530;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5706;RCV=RCV000006060;SCV=SCV000026242;ALLELE_ID=20745;SYMBOL=CRLF1;HGVS_C=NM_004750.4:c.242G>A;HGVS_P=NP_004741.1:p.Arg81His;MOLECULAR_CONSEQUENCE=NM_004750.4:c.242G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_03..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cold-induced_sweating_syndrome_1|COLD-INDUCED_SWEATING_SYNDROME_1;ALL_PMIDS=12509788|21370513;ORIGIN=germline;XREFS=GeneReviews:NBK52917|Genetic_Alliance:Cold-induced+sweating+syndrome+1/8000|Genetic_Alliance:Crisponi+Syndrome/2012|MedGen:C1848947|OMIM:272430|Orphanet:157820;DATES_ORDERED=2003-02-01
19 36333331 . T A . . START=36333331;STOP=36333331;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=6872;RCV=RCV000007275;SCV=SCV000027471;ALLELE_ID=38439;SYMBOL=NPHS1;HGVS_C=NM_004646.3:c.2456A>T;HGVS_P=NP_004637.1:p.Asp819Val;MOLECULAR_CONSEQUENCE=NM_004646.3:c.2456A>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Finnish_congenital_nephrotic_syndrome|NEPHROTIC_SYNDROME..TYPE_1;ALL_PMIDS=10652016;ORIGIN=germline;XREFS=Genetic_Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861|MedGen:C0403399|OMIM:256300|OMIM:602716.0001|OMIM:602716.0002|OMIM:602716.0003|OMIM:602716.0004|OMIM:602716.0005|OMIM:602716.0006|OMIM:602716.0007|OMIM:602716.0008|OMIM:602716.0009|OMIM:602716.0010|Office_of_Rare_Diseases:1500|Orphanet:839|SNOMED_CT:197601003;DATES_ORDERED=2000-02-01
19 36339044 . C T . . START=36339044;STOP=36339044;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=6872;RCV=RCV000007275;SCV=SCV000027471;ALLELE_ID=21911;SYMBOL=NPHS1;HGVS_C=NM_004646.3:c.1339G>A;HGVS_P=NP_004637.1:p.Glu447Lys;MOLECULAR_CONSEQUENCE=NM_004646.3:c.1339G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Finnish_congenital_nephrotic_syndrome|NEPHROTIC_SYNDROME..TYPE_1;ALL_PMIDS=10652016;ORIGIN=germline;XREFS=Genetic_Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861|MedGen:C0403399|OMIM:256300|OMIM:602716.0001|OMIM:602716.0002|OMIM:602716.0003|OMIM:602716.0004|OMIM:602716.0005|OMIM:602716.0006|OMIM:602716.0007|OMIM:602716.0008|OMIM:602716.0009|OMIM:602716.0010|Office_of_Rare_Diseases:1500|Orphanet:839|SNOMED_CT:197601003;DATES_ORDERED=2000-02-01
19 38979992 . AAG A . . START=38979995;STOP=38979996;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29876;RCV=RCV000022757;SCV=SCV000044046;ALLELE_ID=38831;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.5726_5727delAG;HGVS_P=NP_000531.2:p.Glu1909Glyfs;MOLECULAR_CONSEQUENCE=NM_000540.2:c.5726_5727delAG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_07..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=20301467|20839240|22009146|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598;DATES_ORDERED=2012-09-07
19 38994959 . C T . . START=38994959;STOP=38994959;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12985;RCV=RCV000013857;SCV=SCV000034104;ALLELE_ID=28024;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.8026C>T;HGVS_P=NP_000531.2:p.Arg2676Trp;MOLECULAR_CONSEQUENCE=NM_000540.2:c.8026C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Malignant_hyperthermia..susceptibility_to..1|MALIGNANT_HYPERTHERMIA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=14732627|14870754|16163667|16917943|20301325|23788249|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1146|MedGen:CN031421|OMIM:145600|Office_of_Rare_Diseases:3363|Orphanet:423;DATES_ORDERED=2004-01-01
19 38995998 . C G . . START=38995998;STOP=38995998;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12985;RCV=RCV000013857;SCV=SCV000034104;ALLELE_ID=38459;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.8360C>G;HGVS_P=NP_000531.2:p.Thr2787Ser;MOLECULAR_CONSEQUENCE=NM_000540.2:c.8360C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Malignant_hyperthermia..susceptibility_to..1|MALIGNANT_HYPERTHERMIA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=14732627|14870754|16163667|16917943|20301325|23788249|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1146|MedGen:CN031421|OMIM:145600|Office_of_Rare_Diseases:3363|Orphanet:423;DATES_ORDERED=2004-01-01
19 39002893 . T C . . START=39002893;STOP=39002893;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29876;RCV=RCV000022757;SCV=SCV000044046;ALLELE_ID=51078;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.9242T>C;HGVS_P=NP_000531.2:p.Met3081Thr;MOLECULAR_CONSEQUENCE=NM_000540.2:c.9242T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=20301467|20839240|22009146|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598;DATES_ORDERED=2012-09-07
19 42364887 . G T . . START=42364887;STOP=42364887;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6319;RCV=RCV000033188;SCV=SCV000057024;ALLELE_ID=21358;SYMBOL=RPS19;HGVS_C=NM_001022.3:c.43G>T;HGVS_P=NP_001013.1:p.Val15Phe;MOLECULAR_CONSEQUENCE=NM_001022.3:c.43G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Diamond-Blackfan_anemia_1|DIAMOND-BLACKFAN_ANEMIA_1;ALL_PMIDS=12586610|20301769;ORIGIN=germline;XREFS=GeneReviews:NBK7047|Genetic_Alliance:Diamond-Blackfan+anemia+1/8226|MedGen:C2676137|OMIM:105650|Orphanet:124;DATES_ORDERED=2003-06-15
19 42365273 . C T . . START=42365273;STOP=42365273;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6319;RCV=RCV000033188;SCV=SCV000057024;ALLELE_ID=38387;SYMBOL=RPS19;HGVS_C=NM_001022.3:c.164C>T;HGVS_P=NP_001013.1:p.Thr55Met;MOLECULAR_CONSEQUENCE=NM_001022.3:c.164C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Diamond-Blackfan_anemia_1|DIAMOND-BLACKFAN_ANEMIA_1;ALL_PMIDS=12586610|20301769;ORIGIN=germline;XREFS=GeneReviews:NBK7047|Genetic_Alliance:Diamond-Blackfan+anemia+1/8226|MedGen:C2676137|OMIM:105650|Orphanet:124;DATES_ORDERED=2003-06-15
19 47258781 . C A . . START=47258781;STOP=47258781;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=224674;RCV=RCV000226653;SCV=SCV000265787;ALLELE_ID=226485;SYMBOL=FKRP;HGVS_C=NM_024301.4:c.74C>A;HGVS_P=NP_077277.1:p.Ser25Ter;MOLECULAR_CONSEQUENCE=NM_024301.4:c.74C>A:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;SUBMITTERS_ORDERED=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|MedGen:C1846672|OMIM:606596.0004|OMIM:606596.0005|OMIM:606596.0006|OMIM:606596.0011|OMIM:606596.0012|OMIM:606596.0013|OMIM:606596.0014|OMIM:606596.0015|OMIM:606596.0016|OMIM:607155|Orphanet:34515;DATES_ORDERED=2015-12-01
19 47258781 . CGT C . . START=47258783;STOP=47258784;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=224674;RCV=RCV000226653;SCV=SCV000265787;ALLELE_ID=226486;SYMBOL=FKRP;HGVS_C=NM_024301.4:c.76_77delTG;HGVS_P=NP_077277.1:p.Trp26Alafs;MOLECULAR_CONSEQUENCE=NM_024301.4:c.76_77delTG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;SUBMITTERS_ORDERED=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|MedGen:C1846672|OMIM:606596.0004|OMIM:606596.0005|OMIM:606596.0006|OMIM:606596.0011|OMIM:606596.0012|OMIM:606596.0013|OMIM:606596.0014|OMIM:606596.0015|OMIM:606596.0016|OMIM:607155|Orphanet:34515;DATES_ORDERED=2015-12-01
19 47259533 . C A . . START=47259533;STOP=47259533;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=224674;RCV=RCV000226653;SCV=SCV000265787;ALLELE_ID=19260;SYMBOL=FKRP;HGVS_C=NM_024301.4:c.826C>A;HGVS_P=NP_077277.1:p.Leu276Ile;MOLECULAR_CONSEQUENCE=NM_024301.4:c.826C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;SUBMITTERS_ORDERED=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|MedGen:C1846672|OMIM:606596.0004|OMIM:606596.0005|OMIM:606596.0006|OMIM:606596.0011|OMIM:606596.0012|OMIM:606596.0013|OMIM:606596.0014|OMIM:606596.0015|OMIM:606596.0016|OMIM:607155|Orphanet:34515;DATES_ORDERED=2015-12-01
20 4680251 . A G . . START=4680251;STOP=4680251;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13399;RCV=RCV000014336|RCV000014337;SCV=SCV000034585|SCV000034586;ALLELE_ID=28436;SYMBOL=PRNP;HGVS_C=NM_000311.4:c.385A>G;HGVS_P=NP_000302.1:p.Met129Val;MOLECULAR_CONSEQUENCE=NM_000311.4:c.385A>G:missense_variant|NM_001271561.1:c.*74A>G:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Jakob-Creutzfeldt_disease|CREUTZFELDT-JAKOB_DISEASE|Fatal_familial_insomnia;ALL_PMIDS=10581230|12205650|1353341|1353342|1469441|16227536|1671440|1671983|1684756|19038218|20298421|20301407|7709737|9751723;ORIGIN=germline;XREFS=GeneReviews:NBK1229|Genetic_Alliance:Creutzfeldt-Jakob+Disease/2006|MedGen:C0022336|OMIM:123400|Office_of_Rare_Diseases:6956|Orphanet:204|Orphanet:282166|Orphanet:454700|SNOMED_CT:792004|Genetic_Alliance:Fatal+Familial+Insomnia/2793|MedGen:C0206042|OMIM:600072|Orphanet:466|SNOMED_CT:83157008;DATES_ORDERED=2008-11-26
20 4680398 . G A . . START=4680398;STOP=4680398;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13399;RCV=RCV000014336|RCV000014337;SCV=SCV000034585|SCV000034586;ALLELE_ID=28438;SYMBOL=PRNP;HGVS_C=NM_000311.4:c.532G>A;HGVS_P=NP_000302.1:p.Asp178Asn;MOLECULAR_CONSEQUENCE=NM_000311.4:c.532G>A:missense_variant|NM_001271561.1:c.*221G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_05..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Jakob-Creutzfeldt_disease|CREUTZFELDT-JAKOB_DISEASE|Fatal_familial_insomnia;ALL_PMIDS=10581230|12205650|1353341|1353342|1469441|16227536|1671440|1671983|1684756|19038218|20298421|20301407|7709737|9751723;ORIGIN=germline;XREFS=GeneReviews:NBK1229|Genetic_Alliance:Creutzfeldt-Jakob+Disease/2006|MedGen:C0022336|OMIM:123400|Office_of_Rare_Diseases:6956|Orphanet:204|Orphanet:282166|Orphanet:454700|SNOMED_CT:792004|Genetic_Alliance:Fatal+Familial+Insomnia/2793|MedGen:C0206042|OMIM:600072|Orphanet:466|SNOMED_CT:83157008;DATES_ORDERED=2008-11-26
20 10393439 . C A . . START=10393439;STOP=10393439;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5308;RCV=RCV000005632;SCV=SCV000025814;ALLELE_ID=38435;SYMBOL=MKKS;HGVS_C=NM_170784.2:c.724G>T;HGVS_P=NP_740754.1:p.Ala242Ser;MOLECULAR_CONSEQUENCE=NM_170784.2:c.724G>T:missense_variant|NR_072977.1:n.364-3988G>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=McKusick_Kaufman_syndrome|MCKUSICK-KAUFMAN_SYNDROME;ALL_PMIDS=10802661|16104012|20301675;ORIGIN=germline;XREFS=GeneReviews:NBK1502|Genetic_Alliance:McKusick+Kaufman+syndrome/4529|MedGen:C0948368|OMIM:236700|Office_of_Rare_Diseases:3427|Orphanet:2473;DATES_ORDERED=2005-09-15
20 10393913 . G A . . START=10393913;STOP=10393913;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5308;RCV=RCV000005632;SCV=SCV000025814;ALLELE_ID=20347;SYMBOL=MKKS;HGVS_C=NM_170784.2:c.250C>T;HGVS_P=NP_740754.1:p.His84Tyr;MOLECULAR_CONSEQUENCE=NM_170784.2:c.250C>T:missense_variant|NR_072977.1:n.364-4462C>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_15..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=McKusick_Kaufman_syndrome|MCKUSICK-KAUFMAN_SYNDROME;ALL_PMIDS=10802661|16104012|20301675;ORIGIN=germline;XREFS=GeneReviews:NBK1502|Genetic_Alliance:McKusick+Kaufman+syndrome/4529|MedGen:C0948368|OMIM:236700|Office_of_Rare_Diseases:3427|Orphanet:2473;DATES_ORDERED=2005-09-15
20 39742755 . A G . . START=39742755;STOP=39742755;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16773;RCV=RCV000018261;SCV=SCV000038540;ALLELE_ID=31812;SYMBOL=TOP1;HGVS_C=NM_003286.3:c.1598A>G;HGVS_P=NP_003277.1:p.Asp533Gly;MOLECULAR_CONSEQUENCE=NM_003286.3:c.1598A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_11..1991;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=DNA_topoisomerase_I..camptothecin-resistant|DNA_TOPOISOMERASE_I..CAMPTOTHECIN-RESISTANT;ALL_PMIDS=1849260;ORIGIN=germline;XREFS=MedGen:C4016020;DATES_ORDERED=1991-01-11
20 43255143 . G C . . START=43255143;STOP=43255143;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=1981;RCV=RCV000002058;SCV=SCV000022216;ALLELE_ID=38420;SYMBOL=ADA;HGVS_C=NM_000022.3:c.316C>G;HGVS_P=NP_001308979.1:p.Thr9_eq_;MOLECULAR_CONSEQUENCE=NM_000022.3:c.316C>G:missense_variant|NM_001322050.1:c.27C>G:synonymous_variant|NR_136160.1:n.467C>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Severe_combined_immunodeficiency..autosomal_recessive..T_cell-negative..B_cell-negative..NK_cell-negative..due_to_adenosine_deaminase_deficiency|SEVERE_COMBINED_IMMUNODEFICIENCY..AUTOSOMAL_RECESSIVE..T_CELL-NEGATIVE..B_CELL-NEGATIVE..NK_CELL-NEGATIVE..DUE_TO_ADENOSINE_DEAMINASE_DEFICIENCY;ALL_PMIDS=3304460|9361033;ORIGIN=germline;XREFS=MedGen:C0392607;DATES_ORDERED=1997-12-01
20 43255169 . T C . . START=43255169;STOP=43255169;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=1981;RCV=RCV000002058;SCV=SCV000022216;ALLELE_ID=17020;SYMBOL=ADA;HGVS_C=NM_000022.3:c.290A>G;HGVS_P=NP_000013.2:p.Tyr97Cys;MOLECULAR_CONSEQUENCE=NM_000022.3:c.290A>G:missense_variant|NR_136160.1:n.441A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Severe_combined_immunodeficiency..autosomal_recessive..T_cell-negative..B_cell-negative..NK_cell-negative..due_to_adenosine_deaminase_deficiency|SEVERE_COMBINED_IMMUNODEFICIENCY..AUTOSOMAL_RECESSIVE..T_CELL-NEGATIVE..B_CELL-NEGATIVE..NK_CELL-NEGATIVE..DUE_TO_ADENOSINE_DEAMINASE_DEFICIENCY;ALL_PMIDS=3304460|9361033;ORIGIN=germline;XREFS=MedGen:C0392607;DATES_ORDERED=1997-12-01
20 62044831 . G T . . START=62044831;STOP=62044831;VARIATION_TYPE=Haplotype;VARIATION_ID=369808;RCV=RCV000408720;SCV=SCV000484644;ALLELE_ID=390693;HGVS_C=NM_172107.3:c.1735C>A;HGVS_P=NP_742105.1:p.Leu579Met;MOLECULAR_CONSEQUENCE=NM_172107.3:c.1735C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Early_infantile_epileptic_encephalopathy_7;ALL_PMIDS=20437616|25818041;ORIGIN=germline;XREFS=GeneReviews:NBK32534|Genetic_Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345|MedGen:C3150986|OMIM:613720|Orphanet:439218;DATES_ORDERED=2016-03-31
20 62044832 . C T . . START=62044832;STOP=62044832;VARIATION_TYPE=Haplotype;VARIATION_ID=369808;RCV=RCV000408720;SCV=SCV000484644;ALLELE_ID=390692;HGVS_C=NM_172107.3:c.1734G>A;HGVS_P=NP_742105.1:p.Met578Ile;MOLECULAR_CONSEQUENCE=NM_172107.3:c.1734G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Early_infantile_epileptic_encephalopathy_7;ALL_PMIDS=20437616|25818041;ORIGIN=germline;XREFS=GeneReviews:NBK32534|Genetic_Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345|MedGen:C3150986|OMIM:613720|Orphanet:439218;DATES_ORDERED=2016-03-31
21 34951753 . T G . . START=34951753;STOP=34951753;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=431417;RCV=RCV000496974;SCV=SCV000588191;ALLELE_ID=424961;SYMBOL=DONSON;HGVS_C=NM_017613.3:c.1466A>C;HGVS_P=NP_060083.1:p.Lys489Thr;MOLECULAR_CONSEQUENCE=NM_017613.3:c.1466A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES|MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES;ALL_PMIDS=28191891;ORIGIN=germline;XREFS=MedGen:CN373593|OMIM:611428.0001|OMIM:611428.0002|OMIM:611428.0003|OMIM:611428.0004|OMIM:611428.0005|OMIM:611428.0006|OMIM:611428.0007|OMIM:617604;DATES_ORDERED=2017-08-04
21 34956005 . T C . . START=34956005;STOP=34956005;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=431417;RCV=RCV000496974;SCV=SCV000588191;ALLELE_ID=424940;SYMBOL=DONSON;HGVS_C=NM_017613.3:c.786-33A>G;MOLECULAR_CONSEQUENCE=NM_017613.3:c.786-33A>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES|MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES;ALL_PMIDS=28191891;ORIGIN=germline;XREFS=MedGen:CN373593|OMIM:611428.0001|OMIM:611428.0002|OMIM:611428.0003|OMIM:611428.0004|OMIM:611428.0005|OMIM:611428.0006|OMIM:611428.0007|OMIM:617604;DATES_ORDERED=2017-08-04
21 34960866 . T G . . START=34960866;STOP=34960866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=431417;RCV=RCV000496974;SCV=SCV000588191;ALLELE_ID=424962;SYMBOL=DONSON;HGVS_C=NM_017613.3:c.82A>C;HGVS_P=NP_060083.1:p.Ser28Arg;MOLECULAR_CONSEQUENCE=NM_017613.3:c.82A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES|MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES;ALL_PMIDS=28191891;ORIGIN=germline;XREFS=MedGen:CN373593|OMIM:611428.0001|OMIM:611428.0002|OMIM:611428.0003|OMIM:611428.0004|OMIM:611428.0005|OMIM:611428.0006|OMIM:611428.0007|OMIM:617604;DATES_ORDERED=2017-08-04
21 37833740 . A T . . START=37833740;STOP=37833740;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375673;RCV=RCV000417144;SCV=SCV000494729;ALLELE_ID=19890;SYMBOL=CLDN14;HGVS_C=NM_012130.3:c.254T>A;HGVS_P=NP_036262.1:p.Val85Asp;MOLECULAR_CONSEQUENCE=NM_001146077.1:c.254T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_30..2016;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;ALL_TRAITS=Perrault_Syndrome|Deafness|Primary_ovarian_insufficiency|Perrault_Syndrome;ORIGIN=germline;XREFS=Illumina_Clinical_Services_Laboratory..Illumina:37522|MedGen:CN239459;DATES_ORDERED=2016-08-30
21 47551895 . G A . . START=47551895;STOP=47551895;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29642;RCV=RCV000022490;SCV=SCV000043779;ALLELE_ID=38596;SYMBOL=COL6A2;HGVS_C=NM_001849.3:c.2489G>A;HGVS_P=NP_001840.3:p.Arg830Gln;MOLECULAR_CONSEQUENCE=NM_001849.3:c.2489G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_08..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE|BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE;ALL_PMIDS=18852439|19949035;ORIGIN=germline;XREFS=OMIM:120240.0011|OMIM:120240.0017|OMIM:120240.0018|OMIM:120240.0019;DATES_ORDERED=2009-12-01
21 47551933 . C T . . START=47551933;STOP=47551933;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29642;RCV=RCV000022490;SCV=SCV000043779;ALLELE_ID=38597;SYMBOL=COL6A2;HGVS_C=NM_001849.3:c.2527C>T;HGVS_P=NP_001840.3:p.Arg843Trp;MOLECULAR_CONSEQUENCE=NM_001849.3:c.2527C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE|BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE;ALL_PMIDS=18852439|19949035;ORIGIN=germline;XREFS=OMIM:120240.0011|OMIM:120240.0017|OMIM:120240.0018|OMIM:120240.0019;DATES_ORDERED=2009-12-01
22 24109650 . C G . . START=24109650;STOP=24109650;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=180222|204293;RCV=RCV000157071|RCV000192234;SCV=SCV000206796|SCV000239873;ALLELE_ID=178410;SYMBOL=CHCHD10;HGVS_C=NM_213720.2:c.172G>C;HGVS_P=NP_998885.1:p.Gly58Arg;MOLECULAR_CONSEQUENCE=NM_213720.2:c.172G>C:missense_variant|NR_125755.1:n.217G>C:non-coding_transcript_variant|NR_125756.1:n.139+371G>C:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_14..2015;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|MYOPATHY..ISOLATED_MITOCHONDRIAL..AUTOSOMAL_DOMINANT_(1_family);ALL_PMIDS=25193783|26131548|9324076|2519378;ORIGIN=germline;XREFS=GeneReviews:NBK304142|MedGen:C4015513|OMIM:616209|Orphanet:457050;DATES_ORDERED=2015-01-01|2015-04-14
22 24109779 . G C . . START=24109779;STOP=24109779;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=204293;RCV=RCV000192234;SCV=SCV000239873;ALLELE_ID=200690;SYMBOL=CHCHD10;HGVS_C=NM_213720.2:c.43C>G;HGVS_P=NP_998885.1:p.Arg15Gly;MOLECULAR_CONSEQUENCE=NM_213720.2:c.43C>G:missense_variant|NR_125755.1:n.140-52C>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_14..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|Myopathy..isolated_mitochondrial..autosomal_dominant;ALL_PMIDS=2519378|26131548;ORIGIN=germline;XREFS=GeneReviews:NBK304142|MedGen:C4015513|OMIM:616209|Orphanet:457050;DATES_ORDERED=2015-04-14
22 24109779 . G T . . START=24109779;STOP=24109779;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=180222;RCV=RCV000157071;SCV=SCV000206796;ALLELE_ID=178409;SYMBOL=CHCHD10;HGVS_C=NM_213720.2:c.43C>A;HGVS_P=NP_998885.1:p.Arg15Ser;MOLECULAR_CONSEQUENCE=NM_213720.2:c.43C>A:missense_variant|NR_125755.1:n.140-52C>A:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_02..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|MYOPATHY..ISOLATED_MITOCHONDRIAL..AUTOSOMAL_DOMINANT_(1_family);ALL_PMIDS=25193783|26131548|9324076;ORIGIN=germline;XREFS=GeneReviews:NBK304142|MedGen:C4015513|OMIM:616209|Orphanet:457050;DATES_ORDERED=2015-01-01
22 25625439 . C A . . START=25625439;STOP=25625439;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217348;RCV=RCV000203383;SCV=SCV000256031;ALLELE_ID=214001;SYMBOL=CRYBB2;HGVS_C=NM_000496.2:c.343C>A;HGVS_P=NP_000487.1:p.Pro115Thr;MOLECULAR_CONSEQUENCE=NM_000496.2:c.343C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_09..2015;ALL_SUBMITTERS=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;SUBMITTERS_ORDERED=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;ALL_TRAITS=Congenital_cataract;ALL_PMIDS=26694549;ORIGIN=de_novo;XREFS=Human_Phenotype_Ontology:HP:0000519|Human_Phenotype_Ontology:HP:0001108|Human_Phenotype_Ontology:HP:0007679|Human_Phenotype_Ontology:HP:0007726|Human_Phenotype_Ontology:HP:0007788|MedGen:C1842324;DATES_ORDERED=2015-01-09
22 25625451 . G A . . START=25625451;STOP=25625451;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217348;RCV=RCV000203383;SCV=SCV000256031;ALLELE_ID=214002;SYMBOL=CRYBB2;HGVS_C=NM_000496.2:c.355G>A;HGVS_P=NP_000487.1:p.Gly119Arg;MOLECULAR_CONSEQUENCE=NM_000496.2:c.355G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_09..2015;ALL_SUBMITTERS=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;SUBMITTERS_ORDERED=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;ALL_TRAITS=Congenital_cataract;ALL_PMIDS=26694549;ORIGIN=de_novo;XREFS=Human_Phenotype_Ontology:HP:0000519|Human_Phenotype_Ontology:HP:0001108|Human_Phenotype_Ontology:HP:0007679|Human_Phenotype_Ontology:HP:0007726|Human_Phenotype_Ontology:HP:0007788|MedGen:C1842324;DATES_ORDERED=2015-01-09
22 36661906 . A G . . START=36661906;STOP=36661906;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6080;RCV=RCV000006453;SCV=SCV000026636;ALLELE_ID=21119;SYMBOL=APOL1;HGVS_C=NM_145343.2:c.1072A>G;HGVS_P=NP_663318.1:p.Ser358Gly;MOLECULAR_CONSEQUENCE=NM_145343.2:c.1072A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_09..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Focal_segmental_glomerulosclerosis_4..susceptibility_to|FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_4..SUSCEPTIBILITY_TO;ALL_PMIDS=20647424|24206458;ORIGIN=germline;XREFS=Genetic_Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438|MedGen:C2675525|OMIM:612551|Orphanet:84271;DATES_ORDERED=2010-10-25
22 36662034 . T G . . START=36662034;STOP=36662034;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6080;RCV=RCV000006453;SCV=SCV000026636;ALLELE_ID=76004;SYMBOL=APOL1;HGVS_C=NM_145343.2:c.1200T>G;HGVS_P=NP_663318.1:p.Ile400Met;MOLECULAR_CONSEQUENCE=NM_145343.2:c.1200T>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_09..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Focal_segmental_glomerulosclerosis_4..susceptibility_to|FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_4..SUSCEPTIBILITY_TO;ALL_PMIDS=20647424|24206458;ORIGIN=germline;XREFS=Genetic_Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438|MedGen:C2675525|OMIM:612551|Orphanet:84271;DATES_ORDERED=2010-10-25
22 40757623 . G C . . START=40757623;STOP=40757623;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208488;RCV=RCV000190501;SCV=SCV000245387;ALLELE_ID=205025;SYMBOL=ADSL;HGVS_C=NM_000026.3:c.994G>C;HGVS_P=NP_000017.1:p.Asp332His;MOLECULAR_CONSEQUENCE=NM_000026.3:c.994G>C:missense_variant|NR_134256.1:n.1053G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_17..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Adenylosuccinate_lyase_deficiency|Adenylosuccinate_lyase_deficiency;ALL_PMIDS=10090474|23519317;ORIGIN=germline;XREFS=Genetic_Alliance:Adenylosuccinase+Deficiency/230|MedGen:C0268126|OMIM:103050|Office_of_Rare_Diseases:550|Orphanet:46|SNOMED_CT:15285008;DATES_ORDERED=2014-02-17
22 40760969 . G A . . START=40760969;STOP=40760969;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208488;RCV=RCV000190501;SCV=SCV000245387;ALLELE_ID=17501;SYMBOL=ADSL;HGVS_C=NM_000026.3:c.1277G>A;HGVS_P=NP_000017.1:p.Arg426His;MOLECULAR_CONSEQUENCE=NM_000026.3:c.1277G>A:missense_variant|NM_001123378.1:c.1191+600G>A:intron_variant|NR_134256.1:n.1367G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_13..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Adenylosuccinate_lyase_deficiency|Adenylosuccinate_lyase_deficiency;ALL_PMIDS=10090474|23519317;ORIGIN=germline;XREFS=Genetic_Alliance:Adenylosuccinase+Deficiency/230|MedGen:C0268126|OMIM:103050|Office_of_Rare_Diseases:550|Orphanet:46|SNOMED_CT:15285008;DATES_ORDERED=2014-02-17
X 13768812 . TCTCAAACACTTGGG T . . START=13768818;STOP=13768831;VARIATION_TYPE=Haplotype;VARIATION_ID=11542;RCV=RCV000012298;SCV=SCV000032532;ALLELE_ID=76962;HGVS_C=NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA;MOLECULAR_CONSEQUENCE=NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Oral-facial-digital_syndrome|OROFACIODIGITAL_SYNDROME_I;ALL_PMIDS=15221448|20301367;ORIGIN=germline;XREFS=GeneReviews:NBK1188|Genetic_Alliance:Orofaciodigital+syndromes/5428|MedGen:C1510460|OMIM:311200|Office_of_Rare_Diseases:4121|Orphanet:2750|SNOMED_CT:52868006;DATES_ORDERED=2004-07-01
X 22112123 . T C . . START=22112123;STOP=22112123;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=10818;RCV=RCV000011565;SCV=SCV000031797;ALLELE_ID=25857;SYMBOL=PHEX;HGVS_C=NM_000444.5:c.755T>C;HGVS_P=NP_000435.3:p.Phe252Ser;MOLECULAR_CONSEQUENCE=NM_000444.5:c.755T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets|HYPOPHOSPHATEMIC_RICKETS..X-LINKED_DOMINANT;ALL_PMIDS=22319799|7550339|9106524;ORIGIN=germline;XREFS=GeneReviews:NBK83985|Genetic_Alliance:Familial+Hypophosphatemic+Rickets/2752|MedGen:C0733682|OMIM:307800|Office_of_Rare_Diseases:6735|Orphanet:89936|SNOMED_CT:82236004;DATES_ORDERED=1997-04-01
X 22112127 . G A . . START=22112127;STOP=22112127;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=10818;RCV=RCV000011565;SCV=SCV000031797;ALLELE_ID=38453;SYMBOL=PHEX;HGVS_C=NM_000444.5:c.759G>A;HGVS_P=NP_000435.3:p.Met253Ile;MOLECULAR_CONSEQUENCE=NM_000444.5:c.759G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets|HYPOPHOSPHATEMIC_RICKETS..X-LINKED_DOMINANT;ALL_PMIDS=22319799|7550339|9106524;ORIGIN=germline;XREFS=GeneReviews:NBK83985|Genetic_Alliance:Familial+Hypophosphatemic+Rickets/2752|MedGen:C0733682|OMIM:307800|Office_of_Rare_Diseases:6735|Orphanet:89936|SNOMED_CT:82236004;DATES_ORDERED=1997-04-01
X 100658834 . G A . . START=100658834;STOP=100658834;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10723;RCV=RCV000011470;SCV=SCV000031702;ALLELE_ID=38452;SYMBOL=GLA;HGVS_C=NM_000169.2:c.334C>T;HGVS_P=NP_000160.1:p.Arg112Cys;MOLECULAR_CONSEQUENCE=NM_000169.2:c.334C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_09..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Fabry_disease|FABRY_DISEASE;ALL_PMIDS=12735292|1315715|16980809|20301469|20505683|20610207|21934708|23788249|23860966|25173338|25355838|25356965|27854360;DISEASE_MECHANISM=Fabry_disease_is_due_to_inactivating_mutations_in_the_X-linked_GLA_gene_resulting_in_deficiency_of_the_enzyme_Alpha_Galactosidase-A.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1292|Genetic_Alliance:Fabry+Disease/2690|Genetic_Testing_Registry_(GTR):GTR000246735|Genetic_Testing_Registry_(GTR):GTR000260631|Genetic_Testing_Registry_(GTR):GTR000325415|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000337467|Genetic_Testing_Registry_(GTR):GTR000500007|Genetic_Testing_Registry_(GTR):GTR000503671|Genetic_Testing_Registry_(GTR):GTR000505068|Genetic_Testing_Registry_(GTR):GTR000507480|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000512526|Genetic_Testing_Registry_(GTR):GTR000514924|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519384|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520414|Genetic_Testing_Registry_(GTR):GTR000520447|Genetic_Testing_Registry_(GTR):GTR000522329|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528528|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000551442|Genetic_Testing_Registry_(GTR):GTR000552214|Genetic_Testing_Registry_(GTR):GTR000556501|Genetic_Testing_Registry_(GTR):GTR000556520|Genetic_Testing_Registry_(GTR):GTR000556725|Genetics_Home_Reference:fabry-disease|MedGen:C0002986|OMIM:301500|Office_of_Rare_Diseases:6400|Orphanet:324|SNOMED_CT:16652001;DATES_ORDERED=2010-08-01
X 100658972 . C G . . START=100658972;STOP=100658972;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10723;RCV=RCV000011470;SCV=SCV000031702;ALLELE_ID=25762;SYMBOL=GLA;HGVS_C=NM_000169.2:c.196G>C;HGVS_P=NP_000160.1:p.Glu66Gln;MOLECULAR_CONSEQUENCE=NM_000169.2:c.196G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_24..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Fabry_disease|FABRY_DISEASE;ALL_PMIDS=12735292|1315715|16980809|20301469|20505683|20610207|21934708|23788249|23860966|25173338|25355838|25356965|27854360;DISEASE_MECHANISM=Fabry_disease_is_due_to_inactivating_mutations_in_the_X-linked_GLA_gene_resulting_in_deficiency_of_the_enzyme_Alpha_Galactosidase-A.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1292|Genetic_Alliance:Fabry+Disease/2690|Genetic_Testing_Registry_(GTR):GTR000246735|Genetic_Testing_Registry_(GTR):GTR000260631|Genetic_Testing_Registry_(GTR):GTR000325415|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000337467|Genetic_Testing_Registry_(GTR):GTR000500007|Genetic_Testing_Registry_(GTR):GTR000503671|Genetic_Testing_Registry_(GTR):GTR000505068|Genetic_Testing_Registry_(GTR):GTR000507480|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000512526|Genetic_Testing_Registry_(GTR):GTR000514924|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519384|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520414|Genetic_Testing_Registry_(GTR):GTR000520447|Genetic_Testing_Registry_(GTR):GTR000522329|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528528|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000551442|Genetic_Testing_Registry_(GTR):GTR000552214|Genetic_Testing_Registry_(GTR):GTR000556501|Genetic_Testing_Registry_(GTR):GTR000556520|Genetic_Testing_Registry_(GTR):GTR000556725|Genetics_Home_Reference:fabry-disease|MedGen:C0002986|OMIM:301500|Office_of_Rare_Diseases:6400|Orphanet:324|SNOMED_CT:16652001;DATES_ORDERED=2010-08-01
X 107823943 . G T . . START=107823943;STOP=107823943;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=10464;RCV=RCV000011210;SCV=SCV000031437;ALLELE_ID=35671;SYMBOL=COL4A5;HGVS_C=NM_033380.2:c.866G>T;HGVS_P=NP_203699.1:p.Gly289Val;MOLECULAR_CONSEQUENCE=NM_000495.4:c.866G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Alport_syndrome..X-linked_recessive|ALPORT_SYNDROME..X-LINKED;ALL_PMIDS=20301386|22166944|7706490|9195222;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome/335|MedGen:C1567742|OMIM:301050|Orphanet:63|Orphanet:88917;DATES_ORDERED=1995-04-01
X 107929326 . C T . . START=107929326;STOP=107929326;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=10464;RCV=RCV000011210;SCV=SCV000031437;ALLELE_ID=38451;SYMBOL=COL4A5;HGVS_C=NM_033380.2:c.4282C>T;HGVS_P=NP_203699.1:p.Arg1428Cys;MOLECULAR_CONSEQUENCE=NM_000495.4:c.4264C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1995;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Alport_syndrome..X-linked_recessive|ALPORT_SYNDROME..X-LINKED;ALL_PMIDS=20301386|22166944|7706490|9195222;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome/335|MedGen:C1567742|OMIM:301050|Orphanet:63|Orphanet:88917;DATES_ORDERED=1995-04-01
X 135738552 . T A . . START=135738552;STOP=135738552;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11158;RCV=RCV000011908;SCV=SCV000032141;ALLELE_ID=26197;SYMBOL=CD40LG;HGVS_C=NM_000074.2:c.384T>A;HGVS_P=NP_000065.1:p.Ser128Arg;MOLECULAR_CONSEQUENCE=NM_000074.2:c.384T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_29..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_with_hyper_IgM_type_1|IMMUNODEFICIENCY_WITH_HYPER-IgM..TYPE_1;ALL_PMIDS=20301576|7678782;ORIGIN=germline;XREFS=GeneReviews:NBK1402|Genetic_Alliance:Immunodeficiency+with+hyper+IgM+type+1/3776|MedGen:C0398689|OMIM:308230|Office_of_Rare_Diseases:73;DATES_ORDERED=1993-01-29
X 135738554 . A G . . START=135738554;STOP=135738554;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11158;RCV=RCV000011908;SCV=SCV000032141;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_29..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_with_hyper_IgM_type_1|IMMUNODEFICIENCY_WITH_HYPER-IgM..TYPE_1;ALL_PMIDS=20301576|7678782;ORIGIN=germline;XREFS=GeneReviews:NBK1402|Genetic_Alliance:Immunodeficiency+with+hyper+IgM+type+1/3776|MedGen:C0398689|OMIM:308230|Office_of_Rare_Diseases:73;DATES_ORDERED=1993-01-29
X 148564464 . C G . . START=148564464;STOP=148564464;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10502;RCV=RCV000011248;SCV=SCV000031475;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=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2003;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Mucopolysaccharidosis..MPS-II|MUCOPOLYSACCHARIDOSIS..TYPE_II;ALL_PMIDS=12794697|20301451|21863056|25071396;ORIGIN=germline;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009;DATES_ORDERED=2003-07-01
X 148564466 . C A . . START=148564466;STOP=148564466;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10502;RCV=RCV000011248;SCV=SCV000031475;ALLELE_ID=38394;SYMBOL=IDS;HGVS_C=NM_000202.7:c.1464G>T;HGVS_P=NP_000193.1:p.Met488Ile;MOLECULAR_CONSEQUENCE=NM_000202.7:c.1464G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2003;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Mucopolysaccharidosis..MPS-II|MUCOPOLYSACCHARIDOSIS..TYPE_II;ALL_PMIDS=12794697|20301451|21863056|25071396;ORIGIN=germline;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009;DATES_ORDERED=2003-07-01
X 148564527 . C T . . START=148564527;STOP=148564527;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=221203;RCV=RCV000204179;SCV=SCV000262516;ALLELE_ID=25537;SYMBOL=IDS;HGVS_C=NM_000202.7:c.1403G>A;HGVS_P=NP_000193.1:p.Arg468Gln;MOLECULAR_CONSEQUENCE=NM_000202.7:c.1403G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_25..2013;ALL_SUBMITTERS=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;SUBMITTERS_ORDERED=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;ALL_TRAITS=Mucopolysaccharidosis..MPS-II;ALL_PMIDS=18414213|20301451|21863056|25071396;ORIGIN=maternal;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009;DATES_ORDERED=2007-05-16
X 148564536 . T A . . START=148564536;STOP=148564536;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=221203;RCV=RCV000204179;SCV=SCV000262516;ALLELE_ID=222899;SYMBOL=IDS;HGVS_C=NM_000202.7:c.1394A>T;HGVS_P=NP_000193.1:p.Gln465Leu;MOLECULAR_CONSEQUENCE=NM_000202.7:c.1394A>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_16..2007;ALL_SUBMITTERS=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;SUBMITTERS_ORDERED=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;ALL_TRAITS=Mucopolysaccharidosis..MPS-II;ALL_PMIDS=18414213|20301451|21863056|25071396;ORIGIN=maternal;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009;DATES_ORDERED=2007-05-16
X 153762605 . G A . . START=153762605;STOP=153762605;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10392;RCV=RCV000011127;SCV=SCV000031354;ALLELE_ID=25430;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.682C>T;HGVS_P=NP_000393.4:p.Arg228Cys;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.592C>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_18..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664|4125296;ORIGIN=germline;XREFS=MedGen:C4016535;DATES_ORDERED=1992-08-01
X 153762653 . G A . . START=153762653;STOP=153762653;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10392;RCV=RCV000011127;SCV=SCV000031354;ALLELE_ID=38393;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.634C>T;HGVS_P=NP_000393.4:p.Arg212Trp;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.544C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664|4125296;ORIGIN=germline;XREFS=MedGen:C4016535;DATES_ORDERED=1992-08-01
X 153762655 . T A . . START=153762655;STOP=153762655;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10382;RCV=RCV000011109;SCV=SCV000031336;ALLELE_ID=25421;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.632A>T;HGVS_P=NP_000393.4:p.Asp211Val;MOLECULAR_CONSEQUENCE=NM_000402.4:c.632A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=G6PD_SANTAMARIA|G6PD_SANTAMARIA;ALL_PMIDS=1978554|1999409|6433630|8956035;ORIGIN=germline;XREFS=OMIM:305900.0023;DATES_ORDERED=2017-05-24
X 153763492 . T C . . START=153763492;STOP=153763492;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10361|10382;RCV=RCV000011075|RCV000011076|RCV000011077|RCV000011078|RCV000011079|RCV000011109;SCV=SCV000031301|SCV000031303|SCV000031304|SCV000031305|SCV000031306|SCV000031336;ALLELE_ID=25399;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.466A>G;HGVS_P=NP_000393.4:p.Asn156Asp;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.376A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|other;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glucose_6_phosphate_dehydrogenase_deficiency|G6PD_A-|G6PD_BETICA|G6PD_CASTILLA|G6PD_DISTRITO_FEDERAL|G6PD_TEPIC|G6PD_SANTAMARIA;ALL_PMIDS=10734064|1303173|1978554|2253938|2503817|2572288|2836867|2912886|3393536|4388132|5448|5492291|669721|7106752|7291768|903703|1999409|6433630|8956035;ORIGIN=germline;XREFS=Genetic_Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096|Genetics_Home_Reference:glucose-6-phosphate-dehydrogenase-deficiency|MedGen:C0017758|Office_of_Rare_Diseases:6520|OMIM:305900.0002|OMIM:305900.0023;DATES_ORDERED=2000-03-31|2017-05-24
X 153763551 . G C . . START=153763551;STOP=153763551;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10392;RCV=RCV000011127;SCV=SCV000031354;ALLELE_ID=25431;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.407C>G;HGVS_P=NP_000393.4:p.Ser136Cys;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.317C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664|4125296;ORIGIN=germline;XREFS=MedGen:C4016535;DATES_ORDERED=1992-08-01
X 153764217 . C T . . START=153764217;STOP=153764217;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10361;RCV=RCV000011075|RCV000011076|RCV000011077|RCV000011078|RCV000011079;SCV=SCV000031301|SCV000031303|SCV000031304|SCV000031305|SCV000031306;ALLELE_ID=25400;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.292G>A;HGVS_P=NP_000393.4:p.Val98Met;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.202G>A:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|other;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glucose_6_phosphate_dehydrogenase_deficiency|G6PD_A-|G6PD_BETICA|G6PD_CASTILLA|G6PD_DISTRITO_FEDERAL|G6PD_TEPIC;ALL_PMIDS=10734064|1303173|1978554|2253938|2503817|2572288|2836867|2912886|3393536|4388132|5448|5492291|669721|7106752|7291768|903703;ORIGIN=germline;XREFS=Genetic_Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096|Genetics_Home_Reference:glucose-6-phosphate-dehydrogenase-deficiency|MedGen:C0017758|Office_of_Rare_Diseases:6520|OMIM:305900.0002;DATES_ORDERED=2000-03-31|2017-05-24