PRKAG2 — 1382 ClinVar variants

All ClinVar germline PRKAG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 532 flagged for review →

14 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 118 Conflicting · 95 Benign · 30 Benign/Likely benign · 477 Likely benign · 636 Uncertain significance

Full PRKAG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 532

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 62

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PRKAG2 p.Ala238Val Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ala44Thr Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Arg119Gln Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Arg152Cys Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Arg186Trp Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Arg214Gly Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Arg214Lys Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Arg214Ser Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Arg302Gly Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Arg455Lys Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Arg531Leu Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Arg61Gln Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Arg84Gln Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Arg84Trp Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Asn137Ser Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Asn512Ser Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Asp13Gly Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Gln172Glu Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Gln28Arg Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Gln423Lys Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Gln82His Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Glu185Val Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Glu188Gln Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Gly19Glu Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Gly56Arg Conflicting Single submitter
PRKAG2-related disorder
PRKAG2 p.Gly75Ala Conflicting Single submitter
cardiomyopathy
PRKAG2 p.His344Tyr Conflicting Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.His383Arg Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.His401Asn Conflicting Single submitter
PRKAG2-related disorder
PRKAG2 p.Ile191Val Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Lys23Arg Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Lys23Gln Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Pro114Leu Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro198Arg Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro198Ser Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro206Leu Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro212Leu Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro220Leu Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Pro46Gln Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro69Leu Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro83Leu Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro83Ser Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro85His Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro85Ser Conflicting Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Pro85Thr Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ser109Ala Conflicting Single submitter
hypertrophic cardiomyopathy 6
PRKAG2 p.Ser162Cys Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Ser194Leu Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ser211Asn Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Ser540Asn Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Ser548Leu Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Thr142Ile Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Thr174Met Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Thr568Met Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Thr97Ala Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Tyr192Cys Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Tyr487His Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Val105Met Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Val14Leu Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Val274Ile Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Val289Ala Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Val336Leu Conflicting Single submitter
lethal congenital glycogen storage disease of heart

Predictors lean, ClinVar uncertain 395

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 395

PRKAG2 p.Ala224Thr Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ala229Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ala230Val Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ala304Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ala368Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ala395Pro Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ala419Thr Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ala437Gly Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ala44Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ala4Val Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ala561Pro Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
PRKAG2 p.Ala561Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg120Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg128Cys Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Arg186Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg186Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg190Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg190His Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Arg190Leu Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Arg350Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg456Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg456Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg501His Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Arg61Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Arg79Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Asn139Ser Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Asn299Ser Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Asn488Asp Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Asp372Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Asp372His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Asp442Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Asp464Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Asp491His Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Asp51Glu Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Asp539Asn Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Asp549Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Gln172Pro Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Gln210Leu Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Gln337His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Gln409Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Gln82Glu Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Glu178Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Glu183Gln Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Glu183Lys Uncertain significance Multiple submitters
Wolff-Parkinson-White syndrome
PRKAG2 p.Glu188Lys Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Glu239Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Glu342Lys Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Glu347Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Glu427Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Glu465Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Glu565Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Glu569Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Glu569Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Gly18Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Gly22Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Gly236Arg Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Gly300Ser Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Gly467Arg Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Gly50Arg Uncertain significance Multiple submitters
PRKAG2-related disorder
PRKAG2 p.Gly543Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Gly54Asp Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Gly75Glu Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Gly75Val Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Gly80Ser Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.His222Pro Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.His344Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.His36Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.His440Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ile126Val Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ile391Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ile398Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ile439Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ile445Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ile446Val Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ile492Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 6
PRKAG2 p.Leu159Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Leu327Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Leu52Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Leu547Val Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Leu556Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Lys11Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Lys132Arg Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Lys181Gln Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Lys227Gln Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Lys227Glu Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Lys311Asn Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Lys402Glu Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Lys62Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Lys9Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Met121Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Met121Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Met335Val Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Phe323Cys Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Phe371Tyr Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Phe67Cys Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Pro118Ser Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro136Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Pro140Ser Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro144Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Pro163Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Pro166Ser Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro184Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Pro197Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Pro197Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Pro198Ala Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Pro198Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Pro206Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Pro212Ser Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro66Ser Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro88Thr Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro92His Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro92Thr Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Pro99Ser Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ser179Cys Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ser196Phe Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ser207Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Ser208Thr Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ser313Asn Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ser333Ala Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ser413Cys Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ser42Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ser458Ala Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ser540Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ser546Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ser60Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Ser90Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ser98Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Thr167Ile Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Thr213Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Thr221Ala Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Thr357Ile Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Thr400Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Thr432Ala Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Thr432Met Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Thr519Ala Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Tyr180Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Tyr223Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Val253Ala Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Val253Ile Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Val289Ile Uncertain significance Multiple submitters
Wolff-Parkinson-White syndrome
PRKAG2 p.Val289Leu Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Val315Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Val336Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Val478Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Val63Met Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Val93Ala Uncertain significance Multiple submitters
Wolff-Parkinson-White syndrome
PRKAG2 p.Ala218Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Ala228Gly Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Ala228Ser Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ala233Glu Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart

Predictors split 75

The independent predictors disagree with each other — read with care.

PRKAG2 p.Ala298Val Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Arg120Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
PRKAG2 p.Arg120Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Arg30Ser Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Asp522Gly Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Gln499Glu Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Gln503Arg Uncertain significance Multiple submitters
Wolff-Parkinson-White syndrome
PRKAG2 p.Glu454Gly Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Gly2Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Lys310Glu Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Lys510Arg Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Lys9Met Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Met262Ile Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro38Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ser122Asn Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ser131Cys Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ser131Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ser143Leu Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ser153Cys Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Ser161Phe Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ser162Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ser16Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ser207Cys Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Val387Ile Uncertain significance Multiple submitters
cardiomyopathy
PRKAG2 p.Val453Met Uncertain significance Multiple submitters
lethal congenital glycogen storage disease of heart
PRKAG2 p.Val542Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
PRKAG2 p.Ala298Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Ala395Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Arg116Leu Conflicting Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Arg148Thr Uncertain significance Single submitter
cardiomyopathy
PRKAG2 p.Arg152Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Arg263Gln Conflicting Single submitter
cardiomyopathy
PRKAG2 p.Arg34Cys Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Asn435Ser Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Asp367Asn Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Asp464Glu Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Gln499Arg Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Glu112Lys Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Glu537Lys Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Gly100Ser Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Gly145Arg Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Gly158Arg Uncertain significance Single submitter
cardiomyopathy
PRKAG2 p.Gly19Trp Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Gly22Cys Uncertain significance Single submitter
PRKAG2 p.Gly560Arg Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.His440Tyr Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Ile147Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Ile338Met Uncertain significance Single submitter
PRKAG2 p.Ile37Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Ile37Thr Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Ile436Val Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Ile555Phe Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Leu354Val Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Lys422Glu Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Lys513Thr Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Met335Thr Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Met6Thr Uncertain significance Single submitter
cardiomyopathy
PRKAG2 p.Phe106Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Phe108Leu Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Phe204Leu Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Phe43Leu Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro107Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 6
PRKAG2 p.Pro107Leu Conflicting Single submitter
Cardiovascular phenotype
PRKAG2 p.Pro166Leu Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Pro441Thr Uncertain significance Single submitter
PRKAG2 p.Ser124Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
PRKAG2 p.Ser135Tyr Uncertain significance Single submitter
PRKAG2 p.Ser138Cys Uncertain significance Single submitter
Wolff-Parkinson-White syndrome
PRKAG2 p.Ser151Cys Uncertain significance Single submitter
cardiomyopathy
PRKAG2 p.Ser161Cys Uncertain significance Single submitter
cardiomyopathy
PRKAG2 p.Ser309Gly Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Ser3Arg Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Tyr397Phe Uncertain significance Single submitter
Cardiovascular phenotype
PRKAG2 p.Val462Ile Uncertain significance Single submitter
lethal congenital glycogen storage disease of heart
PRKAG2 p.Val463Leu Uncertain significance Single submitter

All PRKAG2 variants

Pathogenic 14

p.Arg302Gln Multiple submitters Cardiovascular phenotype
p.Arg531Gln Multiple submitters lethal congenital glycogen storage disease of heart
p.His530Arg Multiple submitters Cardiovascular phenotype
p.Arg531Gly Single submitter Cardiovascular phenotype
p.Glu342Asp Single submitter PRKAG2 syndrome
p.Glu506Lys Single submitter lethal congenital glycogen storage disease of heart
p.His530Asp Single submitter lethal congenital glycogen storage disease of heart
p.Lys290Ile Single submitter lethal congenital glycogen storage disease of heart
p.Lys485Glu Single submitter lethal congenital glycogen storage disease of heart
p.Ser333Pro Single submitter lethal congenital glycogen storage disease of heart
p.Val336Ala Single submitter lethal congenital glycogen storage disease of heart
p.Arg350_Glu351insLeu No assertion criteria hypertrophic cardiomyopathy 6
p.Arg384Thr No assertion criteria lethal congenital glycogen storage disease of heart
p.Asn488Ile No assertion criteria hypertrophic cardiomyopathy 6

Pathogenic/Likely pathogenic 2

p.Arg302Pro Multiple submitters lethal congenital glycogen storage disease of heart
p.Phe293Leu Multiple submitters cardiomyopathy

Likely pathogenic 10

p.Glu506Gln Multiple submitters hypertrophic cardiomyopathy
p.Thr400Asn Multiple submitters PRKAG2-related disorder
c.466+45171G>T Single submitter hypertrophic cardiomyopathy 6
p.Arg531Trp Single submitter lethal congenital glycogen storage disease of heart
p.His401Asp Single submitter lethal congenital glycogen storage disease of heart
p.Leu341Ser Single submitter hypertrophic cardiomyopathy
p.Ser548Ala Single submitter lethal congenital glycogen storage disease of heart
p.Trp349Arg Single submitter PRKAG2-related disorder
p.Arg384Gly No assertion criteria PRKAG2-related disorder
p.Phe323Ile No assertion criteria hypertrophic cardiomyopathy

Conflicting classifications of pathogenicity 118

c.1051+3A>G Single submitter cardiomyopathy
c.1052-4A>G Single submitter lethal congenital glycogen storage disease of heart
c.1106+15T>G Single submitter familial hypertrophic cardiomyopathy
c.1106+9G>C Single submitter cardiomyopathy
c.1107-12del Single submitter cardiomyopathy
c.1234-6G>A Single submitter cardiomyopathy
c.1438-3C>A Single submitter Cardiovascular phenotype
c.1584+7C>T Single submitter cardiomyopathy
c.1584+8G>A Single submitter lethal congenital glycogen storage disease of heart
c.1585-3C>T Single submitter cardiomyopathy
c.1678+5A>G Single submitter cardiomyopathy
c.1679-3C>T Single submitter Cardiovascular phenotype
c.466+45217C>T Single submitter PRKAG2-related disorder
c.467-10T>G Single submitter cardiomyopathy
c.685-5C>A Single submitter Cardiovascular phenotype
c.685-7C>A Single submitter cardiomyopathy
c.946+3A>G Single submitter Cardiovascular phenotype
c.947-7G>A Single submitter hypertrophic cardiomyopathy 6
c.-16A>G Single submitter hypertrophic cardiomyopathy 6
c.*1030T>G Single submitter Wolff-Parkinson-White syndrome
c.*127C>G Single submitter hypertrophic cardiomyopathy 6
c.*135T>C Single submitter hypertrophic cardiomyopathy 6
c.*2C>T Single submitter hypertrophic cardiomyopathy 6
c.*365G>A Single submitter hypertrophic cardiomyopathy 6
c.*55C>T Single submitter Wolff-Parkinson-White syndrome
c.*614A>T Single submitter Wolff-Parkinson-White syndrome
p.Ala228= Single submitter Cardiovascular phenotype
p.Ala238Val Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ala44Thr Single submitter Cardiovascular phenotype ⚠
p.Arg116Cys Single submitter Cardiovascular phenotype
p.Arg116His Single submitter Cardiovascular phenotype
p.Arg116Leu Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Arg119Gln Single submitter Cardiovascular phenotype ⚠
p.Arg120His Single submitter Cardiovascular phenotype
p.Arg152Cys Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Arg152His Single submitter Cardiovascular phenotype
p.Arg186Trp Single submitter Cardiovascular phenotype ⚠
p.Arg214Gly Single submitter Cardiovascular phenotype ⚠
p.Arg214Lys Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Arg214Ser Single submitter Cardiovascular phenotype ⚠
p.Arg263Gln Single submitter cardiomyopathy ⚠
p.Arg30= Single submitter Cardiovascular phenotype
p.Arg302Gly Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Arg329= Single submitter cardiomyopathy
p.Arg350= Single submitter lethal congenital glycogen storage disease of heart
p.Arg455Lys Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Arg531Leu Single submitter Cardiovascular phenotype ⚠
p.Arg61Gln Single submitter Cardiovascular phenotype ⚠
p.Arg84Gln Single submitter Cardiovascular phenotype ⚠
p.Arg84Trp Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Asn137Ser Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Asn435Ser Single submitter Cardiovascular phenotype ⚠
p.Asn512Ser Single submitter cardiomyopathy ⚠
p.Asp13Gly Single submitter Cardiovascular phenotype ⚠
p.Gln172Glu Single submitter Cardiovascular phenotype ⚠
p.Gln28Arg Single submitter cardiomyopathy ⚠
p.Gln423Lys Single submitter Cardiovascular phenotype ⚠
p.Gln499Arg Single submitter Cardiovascular phenotype ⚠
p.Gln82His Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Glu185Val Single submitter cardiomyopathy ⚠
p.Glu188Gln Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Glu351= Single submitter cardiomyopathy
p.Gly100Ser Single submitter Cardiovascular phenotype ⚠
p.Gly19Glu Single submitter cardiomyopathy ⚠
p.Gly22= Single submitter cardiomyopathy
p.Gly56Arg Single submitter PRKAG2-related disorder ⚠
p.Gly75Ala Single submitter cardiomyopathy ⚠
p.His344Tyr Single submitter hypertrophic cardiomyopathy ⚠
p.His383Arg Single submitter lethal congenital glycogen storage disease of heart ⚠
p.His401Asn Single submitter PRKAG2-related disorder ⚠
p.His440Tyr Single submitter Cardiovascular phenotype ⚠
p.Ile191Val Single submitter Cardiovascular phenotype ⚠
p.Lys23Arg Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Lys23Gln Single submitter cardiomyopathy ⚠
p.Lys62= Single submitter lethal congenital glycogen storage disease of heart
p.Met335Thr Single submitter Cardiovascular phenotype ⚠
p.Phe106= Single submitter cardiomyopathy
p.Phe77= Single submitter cardiomyopathy
p.Pro107Leu Single submitter Cardiovascular phenotype ⚠
p.Pro114Leu Single submitter Cardiovascular phenotype ⚠
p.Pro144= Single submitter cardiomyopathy
p.Pro198Arg Single submitter Cardiovascular phenotype ⚠
p.Pro198Ser Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Pro206Leu Single submitter Cardiovascular phenotype ⚠
p.Pro212Leu Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Pro220Leu Single submitter cardiomyopathy ⚠
p.Pro366= Single submitter Cardiovascular phenotype
p.Pro46Gln Single submitter Cardiovascular phenotype ⚠
p.Pro69Leu Single submitter Cardiovascular phenotype ⚠
p.Pro83Leu Single submitter Cardiovascular phenotype ⚠
p.Pro83Ser Single submitter Cardiovascular phenotype ⚠
p.Pro85His Single submitter Cardiovascular phenotype ⚠
p.Pro85Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Pro85Thr Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ser109Ala Single submitter hypertrophic cardiomyopathy 6 ⚠
p.Ser130Tyr Single submitter Cardiovascular phenotype
p.Ser143= Single submitter Cardiovascular phenotype
p.Ser157= Single submitter Cardiovascular phenotype
p.Ser162Cys Single submitter cardiomyopathy ⚠
p.Ser194Leu Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ser211Asn Single submitter Cardiovascular phenotype ⚠
p.Ser41= Single submitter Cardiovascular phenotype
p.Ser540Asn Single submitter cardiomyopathy ⚠
p.Ser548Leu Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Thr104= Single submitter Cardiovascular phenotype
p.Thr142Ile Single submitter Cardiovascular phenotype ⚠
p.Thr174Met Single submitter cardiomyopathy ⚠
p.Thr568Met Single submitter Cardiovascular phenotype ⚠
p.Thr97Ala Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Tyr192Cys Single submitter Cardiovascular phenotype ⚠
p.Tyr487His Single submitter Cardiovascular phenotype ⚠
p.Val105Met Single submitter Cardiovascular phenotype ⚠
p.Val14= Single submitter Cardiovascular phenotype
p.Val14Leu Single submitter Cardiovascular phenotype ⚠
p.Val274Ile Single submitter cardiomyopathy ⚠
p.Val289Ala Single submitter Cardiovascular phenotype ⚠
p.Val336Leu Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Val529= Single submitter lethal congenital glycogen storage disease of heart

Benign 95

c.1006-95A>T Multiple submitters
c.1052-42C>T Multiple submitters
c.1052-86C>T Multiple submitters
c.114+12C>T Multiple submitters Cardiovascular phenotype
c.114+43C>T Multiple submitters
c.115-27755G>C Multiple submitters
c.1233+88G>A Multiple submitters
c.1437+127T>G Multiple submitters
c.1438-140A>G Multiple submitters
c.1438-180T>A Multiple submitters
c.1584+124G>A Multiple submitters
c.1679-125C>T Multiple submitters
c.186+109T>C Multiple submitters
c.186+111T>C Multiple submitters
c.187-61G>A Multiple submitters
c.187-79A>G Multiple submitters
c.187-85A>G Multiple submitters
c.187-96G>A Multiple submitters
c.466+45369A>G Multiple submitters
c.466+51T>C Multiple submitters
c.467-75A>G Multiple submitters
c.754+259C>T Multiple submitters
c.-26C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.*1061G>A Multiple submitters hypertrophic cardiomyopathy 6
c.*112A>G Multiple submitters hypertrophic cardiomyopathy 6
c.*301A>G Multiple submitters
c.*522G>T Multiple submitters hypertrophic cardiomyopathy 6
p.Ile541= Multiple submitters Cardiovascular phenotype
p.Ser20Ile Multiple submitters Cardiovascular phenotype
c.1006-121G>A Single submitter
c.1006-168A>G Single submitter
c.1006-201A>G Single submitter
c.1006-228T>G Single submitter
c.1006-9del Single submitter lethal congenital glycogen storage disease of heart
c.1051+36C>T Single submitter
c.1052-264C>A Single submitter
c.114+13034A>G Single submitter lethal congenital glycogen storage disease of heart
c.114+1716C>T Single submitter
c.115-21063C>T Single submitter
c.115-269G>C Single submitter
c.115-27861C>A Single submitter
c.115-28011G>A Single submitter
c.115-28016C>A Single submitter
c.115-28163C>T Single submitter
c.115-28203T>G Single submitter
c.115-28206C>T Single submitter
c.115-28207C>A Single submitter
c.115-28208A>G Single submitter
c.115-28267G>A Single submitter
c.115-28336G>T Single submitter
c.1234-317T>G Single submitter lethal congenital glycogen storage disease of heart
c.1234-711A>T Single submitter
c.1678+1398G>A Single submitter
c.1679-15T>C Single submitter
c.1679-258A>G Single submitter
c.187-292G>A Single submitter
c.466+44766_466+44768del Single submitter
c.466+44767_466+44768del Single submitter
c.466+44837C>T Single submitter
c.466+44935C>T Single submitter
c.466+45452A>G Single submitter
c.467-12630G>T Single submitter lethal congenital glycogen storage disease of heart
c.467-21T>C Single submitter
c.467-323C>T Single submitter
c.467-35078C>T Single submitter
c.685-5del Single submitter lethal congenital glycogen storage disease of heart
c.754+324G>A Single submitter
c.864+36T>A Single submitter
c.865-110T>C Single submitter
c.865-112G>C Single submitter
c.865-151A>G Single submitter
c.865-279G>C Single submitter
c.865-293A>G Single submitter
c.865-311T>C Single submitter
c.865-315A>G Single submitter
c.865-328G>T Single submitter
c.865-74del Single submitter
c.865-77A>G Single submitter
c.865-87A>G Single submitter
c.946+279G>A Single submitter
c.946+330G>C Single submitter
c.946+336T>C Single submitter
c.946+358C>T Single submitter
c.946+364C>T Single submitter
c.946+370A>T Single submitter
c.946+371A>C Single submitter
c.947-226T>C Single submitter
c.-30G>A Single submitter
c.-322T>C Single submitter
c.-354T>G Single submitter
c.-368C>T Single submitter
c.-40C>T Single submitter
c.-79C>G Single submitter
c.*18G>A Single submitter
c.*896del Single submitter

Benign/Likely benign 30

c.1005+8G>C Multiple submitters lethal congenital glycogen storage disease of heart
c.1006-9dup Multiple submitters cardiomyopathy
c.1106+10dup Multiple submitters cardiomyopathy
c.1106+19del Multiple submitters lethal congenital glycogen storage disease of heart
c.115-28144G>A Multiple submitters
c.115-28270A>G Multiple submitters
c.1234-17G>A Multiple submitters lethal congenital glycogen storage disease of heart
c.1585-4G>A Multiple submitters Cardiovascular phenotype
c.1678+121T>A Multiple submitters
c.1678+86T>C Multiple submitters
c.1679-19A>T Multiple submitters lethal congenital glycogen storage disease of heart
c.187-16G>A Multiple submitters lethal congenital glycogen storage disease of heart
c.466+45241A>C Multiple submitters
c.864+35_864+36insA Multiple submitters Wolff-Parkinson-White syndrome
c.-90G>T Multiple submitters hypertrophic cardiomyopathy 6
c.*384C>T Multiple submitters hypertrophic cardiomyopathy 6
c.*399G>A Multiple submitters hypertrophic cardiomyopathy 6
c.*3G>A Multiple submitters Cardiovascular phenotype
c.*452C>T Multiple submitters Wolff-Parkinson-White syndrome
c.*56G>A Multiple submitters Wolff-Parkinson-White syndrome
c.*5C>T Multiple submitters cardiomyopathy
p.Arg531= Multiple submitters Cardiovascular phenotype
p.Cys270= Multiple submitters Cardiovascular phenotype
p.Leu177= Multiple submitters Cardiovascular phenotype
p.Pro197= Multiple submitters Cardiovascular phenotype
p.Pro198= Multiple submitters Cardiovascular phenotype
p.Pro46= Multiple submitters Cardiovascular phenotype
p.Ser20= Multiple submitters cardiomyopathy
p.Ser548= Multiple submitters Cardiovascular phenotype
p.Thr432= Multiple submitters lethal congenital glycogen storage disease of heart

Likely benign 477

Showing the top 300 by review status; the full set is in the sitemap.

c.1005+11C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.1005+13A>G Multiple submitters lethal congenital glycogen storage disease of heart
c.1005+13A>T Multiple submitters lethal congenital glycogen storage disease of heart
c.1006-20A>G Multiple submitters lethal congenital glycogen storage disease of heart
c.1051+10A>G Multiple submitters lethal congenital glycogen storage disease of heart
c.1052-11T>C Multiple submitters cardiomyopathy
c.1106+17T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.1107-11T>C Multiple submitters cardiomyopathy
c.1107-14G>C Multiple submitters lethal congenital glycogen storage disease of heart
c.1107-17A>G Multiple submitters lethal congenital glycogen storage disease of heart
c.1107-7C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.1107-9C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.114+20C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.115-28211_115-28200del Multiple submitters
c.1233+9T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.1234-7C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.1399+15C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.1399+16G>A Multiple submitters lethal congenital glycogen storage disease of heart
c.1399+8T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.1400-8A>G Multiple submitters cardiomyopathy
c.1437+47A>G Multiple submitters
c.1438-3C>T Multiple submitters hypertrophic cardiomyopathy
c.1438-5T>C Multiple submitters cardiomyopathy
c.1438-9T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.1584+19T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.1585-19C>G Multiple submitters lethal congenital glycogen storage disease of heart
c.1679-10C>T Multiple submitters cardiomyopathy
c.1679-14C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.1679-19A>G Multiple submitters lethal congenital glycogen storage disease of heart
c.186+12T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.186+20A>C Multiple submitters lethal congenital glycogen storage disease of heart
c.187-4G>A Multiple submitters lethal congenital glycogen storage disease of heart
c.187-7dup Multiple submitters lethal congenital glycogen storage disease of heart
c.187-8T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.466+19T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.466+19T>G Multiple submitters lethal congenital glycogen storage disease of heart
c.466+45150C>T Multiple submitters
c.466+45211G>A Multiple submitters
c.466+7C>A Multiple submitters lethal congenital glycogen storage disease of heart
c.467-10T>C Multiple submitters cardiomyopathy
c.467-15G>A Multiple submitters cardiomyopathy
c.684+10G>C Multiple submitters lethal congenital glycogen storage disease of heart
c.685-9C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.755-13T>G Multiple submitters cardiomyopathy
c.755-8T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.864+10C>G Multiple submitters lethal congenital glycogen storage disease of heart
c.864+13C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.864+20A>G Multiple submitters lethal congenital glycogen storage disease of heart
c.864+32G>T Multiple submitters
c.865-14del Multiple submitters lethal congenital glycogen storage disease of heart
c.946+19A>G Multiple submitters lethal congenital glycogen storage disease of heart
c.-287C>G Multiple submitters hypertrophic cardiomyopathy 6
c.*6G>A Multiple submitters hypertrophic cardiomyopathy
p.Ala240= Multiple submitters lethal congenital glycogen storage disease of heart
p.Ala303= Multiple submitters lethal congenital glycogen storage disease of heart
p.Ala304= Multiple submitters Cardiovascular phenotype
p.Ala395= Multiple submitters Cardiovascular phenotype
p.Ala437= Multiple submitters Cardiovascular phenotype
p.Ala44= Multiple submitters Cardiovascular phenotype
p.Ala483= Multiple submitters lethal congenital glycogen storage disease of heart
p.Ala538= Multiple submitters Cardiovascular phenotype
p.Ala553= Multiple submitters Cardiovascular phenotype
p.Arg186= Multiple submitters Cardiovascular phenotype
p.Arg190= Multiple submitters Cardiovascular phenotype
p.Arg203= Multiple submitters lethal congenital glycogen storage disease of heart
p.Arg214= Multiple submitters hypertrophic cardiomyopathy
p.Arg266= Multiple submitters cardiomyopathy
p.Arg34= Multiple submitters cardiomyopathy
p.Arg61= Multiple submitters hypertrophic cardiomyopathy
p.Arg84= Multiple submitters cardiomyopathy
p.Asn299= Multiple submitters Cardiovascular phenotype
p.Asn424= Multiple submitters Cardiovascular phenotype
p.Asn480= Multiple submitters Cardiovascular phenotype
p.Asp272= Multiple submitters cardiomyopathy
p.Asp372= Multiple submitters lethal congenital glycogen storage disease of heart
p.Asp39= Multiple submitters hypertrophic cardiomyopathy
p.Asp471= Multiple submitters lethal congenital glycogen storage disease of heart
p.Asp49= Multiple submitters lethal congenital glycogen storage disease of heart
p.Asp7= Multiple submitters Cardiovascular phenotype
p.Gln111Lys Multiple submitters cardiomyopathy
p.Gln172= Multiple submitters Cardiovascular phenotype
p.Glu188= Multiple submitters lethal congenital glycogen storage disease of heart
p.Glu308= Multiple submitters lethal congenital glycogen storage disease of heart
p.Glu340= Multiple submitters Cardiovascular phenotype
p.Glu427= Multiple submitters lethal congenital glycogen storage disease of heart
p.Glu484= Multiple submitters cardiomyopathy
p.Glu518= Multiple submitters hypertrophic cardiomyopathy
p.Gly125= Multiple submitters lethal congenital glycogen storage disease of heart
p.Gly145= Multiple submitters cardiomyopathy
p.Gly158Ser Multiple submitters cardiomyopathy
p.Gly18= Multiple submitters Cardiovascular phenotype
p.Gly259= Multiple submitters cardiomyopathy
p.Gly300= Multiple submitters lethal congenital glycogen storage disease of heart
p.Gly54= Multiple submitters Cardiovascular phenotype
p.Gly543= Multiple submitters cardiomyopathy
p.Gly68Ser Multiple submitters Cardiovascular phenotype
p.Gly80= Multiple submitters cardiomyopathy
p.His182= Multiple submitters Cardiovascular phenotype
p.His268= Multiple submitters cardiomyopathy
p.His36= Multiple submitters hypertrophic cardiomyopathy
p.His440= Multiple submitters Cardiovascular phenotype
p.Ile147= Multiple submitters cardiomyopathy
p.Ile338= Multiple submitters lethal congenital glycogen storage disease of heart
p.Ile445= Multiple submitters Cardiovascular phenotype
p.Ile457= Multiple submitters hypertrophic cardiomyopathy
p.Ile520= Multiple submitters Cardiovascular phenotype
p.Ile545= Multiple submitters Cardiovascular phenotype
p.Leu231= Multiple submitters lethal congenital glycogen storage disease of heart
p.Leu377= Multiple submitters hypertrophic cardiomyopathy
p.Leu425= Multiple submitters Cardiovascular phenotype
p.Leu48= Multiple submitters Cardiovascular phenotype
p.Leu532= Multiple submitters cardiomyopathy
p.Leu547= Multiple submitters Cardiovascular phenotype
p.Lys269= Multiple submitters Cardiovascular phenotype
p.Lys29= Multiple submitters lethal congenital glycogen storage disease of heart
p.Lys57= Multiple submitters cardiomyopathy
p.Lys74= Multiple submitters Cardiovascular phenotype
p.Lys9= Multiple submitters Cardiovascular phenotype
p.Met89Val Multiple submitters cardiomyopathy
p.Phe127= Multiple submitters lethal congenital glycogen storage disease of heart
p.Phe293= Multiple submitters cardiomyopathy
p.Phe294= Multiple submitters hypertrophic cardiomyopathy
p.Phe371= Multiple submitters Cardiovascular phenotype
p.Phe420= Multiple submitters cardiomyopathy
p.Phe43= Multiple submitters cardiomyopathy
p.Phe438= Multiple submitters cardiomyopathy
p.Phe67= Multiple submitters lethal congenital glycogen storage disease of heart
p.Pro107= Multiple submitters Cardiovascular phenotype
p.Pro114= Multiple submitters cardiomyopathy
p.Pro163= Multiple submitters lethal congenital glycogen storage disease of heart
p.Pro176= Multiple submitters cardiomyopathy
p.Pro206= Multiple submitters Cardiovascular phenotype
p.Pro216= Multiple submitters cardiomyopathy
p.Pro220= Multiple submitters Cardiovascular phenotype
p.Pro225= Multiple submitters cardiomyopathy
p.Pro275= Multiple submitters Cardiovascular phenotype
p.Pro305= Multiple submitters cardiomyopathy
p.Pro386= Multiple submitters Cardiovascular phenotype
p.Pro418= Multiple submitters Cardiovascular phenotype
p.Pro441= Multiple submitters cardiomyopathy
p.Pro69= Multiple submitters Cardiovascular phenotype
p.Pro83= Multiple submitters Cardiovascular phenotype
p.Pro99= Multiple submitters Cardiovascular phenotype
p.Ser101= Multiple submitters Cardiovascular phenotype
p.Ser117= Multiple submitters Cardiovascular phenotype
p.Ser130= Multiple submitters cardiomyopathy
p.Ser194= Multiple submitters cardiomyopathy
p.Ser195= Multiple submitters lethal congenital glycogen storage disease of heart
p.Ser196= Multiple submitters lethal congenital glycogen storage disease of heart
p.Ser211= Multiple submitters Cardiovascular phenotype
p.Ser3= Multiple submitters Cardiovascular phenotype
p.Ser365= Multiple submitters hypertrophic cardiomyopathy
p.Ser42= Multiple submitters hypertrophic cardiomyopathy
p.Ser540= Multiple submitters lethal congenital glycogen storage disease of heart
p.Ser55= Multiple submitters cardiomyopathy
p.Ser65= Multiple submitters Cardiovascular phenotype
p.Thr167= Multiple submitters Cardiovascular phenotype
p.Thr174= Multiple submitters cardiomyopathy
p.Thr200= Multiple submitters cardiomyopathy
p.Thr213= Multiple submitters hypertrophic cardiomyopathy
p.Thr400= Multiple submitters lethal congenital glycogen storage disease of heart
p.Thr493= Multiple submitters cardiomyopathy
p.Thr566= Multiple submitters Cardiovascular phenotype
p.Tyr331= Multiple submitters Cardiovascular phenotype
p.Tyr397= Multiple submitters Cardiovascular phenotype
p.Val260= Multiple submitters Cardiovascular phenotype
p.Val35= Multiple submitters Cardiovascular phenotype
p.Val494= Multiple submitters cardiomyopathy
p.Val63= Multiple submitters lethal congenital glycogen storage disease of heart
c.1005+12C>A Single submitter lethal congenital glycogen storage disease of heart
c.1005+13A>C Single submitter lethal congenital glycogen storage disease of heart
c.1005+20A>G Single submitter lethal congenital glycogen storage disease of heart
c.1005+301C>T Single submitter
c.1006-12T>A Single submitter lethal congenital glycogen storage disease of heart
c.1006-13_1006-9dup Single submitter lethal congenital glycogen storage disease of heart
c.1006-13T>G Single submitter cardiomyopathy
c.1006-15T>G Single submitter cardiomyopathy
c.1006-19A>G Single submitter lethal congenital glycogen storage disease of heart
c.1006-280A>C Single submitter
c.1006-4G>A Single submitter lethal congenital glycogen storage disease of heart
c.1006-9T>C Single submitter cardiomyopathy
c.1051+10_1051+11del Single submitter lethal congenital glycogen storage disease of heart
c.1051+11T>A Single submitter lethal congenital glycogen storage disease of heart
c.1051+11T>C Single submitter lethal congenital glycogen storage disease of heart
c.1051+14G>T Single submitter lethal congenital glycogen storage disease of heart
c.1051+17G>A Single submitter lethal congenital glycogen storage disease of heart
c.1051+20T>C Single submitter lethal congenital glycogen storage disease of heart
c.1052-10A>G Single submitter lethal congenital glycogen storage disease of heart
c.1052-12C>A Single submitter lethal congenital glycogen storage disease of heart
c.1052-12C>T Single submitter lethal congenital glycogen storage disease of heart
c.1052-16C>T Single submitter lethal congenital glycogen storage disease of heart
c.1052-244C>T Single submitter
c.1052-30T>C Single submitter
c.1106+14T>A Single submitter lethal congenital glycogen storage disease of heart
c.1106+20C>A Single submitter lethal congenital glycogen storage disease of heart
c.1106+86A>G Single submitter
c.1106+9_1106+11del Single submitter lethal congenital glycogen storage disease of heart
c.1106+9G>A Single submitter lethal congenital glycogen storage disease of heart
c.1106+9G>T Single submitter lethal congenital glycogen storage disease of heart
c.1107-10TC[4] Single submitter lethal congenital glycogen storage disease of heart
c.1107-18T>C Single submitter lethal congenital glycogen storage disease of heart
c.114+13034A>T Single submitter lethal congenital glycogen storage disease of heart
c.114+14C>A Single submitter
c.114+14C>G Single submitter lethal congenital glycogen storage disease of heart
c.114+152C>G Single submitter
c.114+17G>C Single submitter lethal congenital glycogen storage disease of heart
c.114+19T>C Single submitter lethal congenital glycogen storage disease of heart
c.115-17C>T Single submitter lethal congenital glycogen storage disease of heart
c.115-18G>A Single submitter lethal congenital glycogen storage disease of heart
c.115-20G>A Single submitter lethal congenital glycogen storage disease of heart
c.115-27881G>A Single submitter
c.115-27964G>A Single submitter
c.115-4039G>A Single submitter
c.115-4066G>T Single submitter
c.115-9C>T Single submitter lethal congenital glycogen storage disease of heart
c.1233+11T>C Single submitter lethal congenital glycogen storage disease of heart
c.1233+13T>A Single submitter lethal congenital glycogen storage disease of heart
c.1233+14A>G Single submitter lethal congenital glycogen storage disease of heart
c.1233+15G>A Single submitter lethal congenital glycogen storage disease of heart
c.1233+16C>T Single submitter lethal congenital glycogen storage disease of heart
c.1233+17G>A Single submitter lethal congenital glycogen storage disease of heart
c.1233+17G>T Single submitter lethal congenital glycogen storage disease of heart
c.1234-13A>G Single submitter lethal congenital glycogen storage disease of heart
c.1234-18C>T Single submitter lethal congenital glycogen storage disease of heart
c.1234-6G>T Single submitter cardiomyopathy
c.1234-752T>A Single submitter
c.1234-8C>G Single submitter
c.1234-9T>G Single submitter cardiomyopathy
c.1399+10T>C Single submitter lethal congenital glycogen storage disease of heart
c.1399+130A>G Single submitter
c.1399+17C>T Single submitter lethal congenital glycogen storage disease of heart
c.1399+18T>A Single submitter lethal congenital glycogen storage disease of heart
c.1399+8T>G Single submitter lethal congenital glycogen storage disease of heart
c.1399+9G>A Single submitter lethal congenital glycogen storage disease of heart
c.1400-15A>G Single submitter hypertrophic cardiomyopathy
c.1400-17A>G Single submitter lethal congenital glycogen storage disease of heart
c.1400-18T>C Single submitter lethal congenital glycogen storage disease of heart
c.1400-19A>G Single submitter lethal congenital glycogen storage disease of heart
c.1400-19AT[2] Single submitter lethal congenital glycogen storage disease of heart
c.1437+10T>C Single submitter lethal congenital glycogen storage disease of heart
c.1437+11T>G Single submitter lethal congenital glycogen storage disease of heart
c.1437+17T>C Single submitter lethal congenital glycogen storage disease of heart
c.1437+292C>T Single submitter
c.1437+7A>G Single submitter lethal congenital glycogen storage disease of heart
c.1437+8T>C Single submitter lethal congenital glycogen storage disease of heart
c.1438-17C>A Single submitter lethal congenital glycogen storage disease of heart
c.1438-18T>C Single submitter lethal congenital glycogen storage disease of heart
c.1438-20A>G Single submitter lethal congenital glycogen storage disease of heart
c.1438-7A>G Single submitter hypertrophic cardiomyopathy
c.1584+17A>G Single submitter lethal congenital glycogen storage disease of heart
c.1584+20C>G Single submitter
c.1584+20C>T Single submitter lethal congenital glycogen storage disease of heart
c.1585-15C>T Single submitter hypertrophic cardiomyopathy
c.1585-8C>T Single submitter lethal congenital glycogen storage disease of heart
c.1585-9T>A Single submitter cardiomyopathy
c.1678+10T>C Single submitter lethal congenital glycogen storage disease of heart
c.1678+113T>C Single submitter
c.1678+11G>A Single submitter lethal congenital glycogen storage disease of heart
c.1678+11G>C Single submitter lethal congenital glycogen storage disease of heart
c.1678+11G>T Single submitter lethal congenital glycogen storage disease of heart
c.1678+1264C>T Single submitter
c.1678+1274C>T Single submitter
c.1678+135T>C Single submitter
c.1678+156G>C Single submitter
c.1678+16C>G Single submitter lethal congenital glycogen storage disease of heart
c.1678+18G>A Single submitter lethal congenital glycogen storage disease of heart
c.1678+18G>T Single submitter lethal congenital glycogen storage disease of heart
c.1678+277A>C Single submitter
c.1678+484T>A Single submitter
c.1678+7T>C Single submitter lethal congenital glycogen storage disease of heart
c.1678+9C>T Single submitter
c.1679-127A>G Single submitter
c.1679-12A>G Single submitter lethal congenital glycogen storage disease of heart
c.1679-14C>G Single submitter cardiomyopathy
c.1679-246dup Single submitter
c.1679-325G>A Single submitter
c.1679-7C>T Single submitter lethal congenital glycogen storage disease of heart
c.186+10C>G Single submitter lethal congenital glycogen storage disease of heart
c.186+10C>T Single submitter lethal congenital glycogen storage disease of heart
c.186+16C>T Single submitter lethal congenital glycogen storage disease of heart
c.186+241G>A Single submitter
c.186+49G>A Single submitter
c.186+7C>G Single submitter
c.186+7C>T Single submitter lethal congenital glycogen storage disease of heart
c.187-13T>C Single submitter hypertrophic cardiomyopathy
c.187-17C>T Single submitter lethal congenital glycogen storage disease of heart
c.187-5T>C Single submitter cardiomyopathy
c.187-7T>A Single submitter
c.187-9T>C Single submitter lethal congenital glycogen storage disease of heart
c.466+11G>C Single submitter lethal congenital glycogen storage disease of heart
c.466+17A>G Single submitter lethal congenital glycogen storage disease of heart
c.466+44768del Single submitter
c.466+44809C>G Single submitter
c.466+45148C>T Single submitter
c.466+45161dup Single submitter
c.466+45166G>A Single submitter
c.466+45173G>A Single submitter
c.466+45218G>A Single submitter
c.466+45230G>A Single submitter
c.466+45239T>G Single submitter

Uncertain significance 636

Showing the top 300 by review status; the full set is in the sitemap.

c.1005+6T>C Multiple submitters lethal congenital glycogen storage disease of heart
c.1006-3C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.1051_1051+2dup Multiple submitters lethal congenital glycogen storage disease of heart
c.1052-6A>G Multiple submitters cardiomyopathy
c.1107-3C>T Multiple submitters hypertrophic cardiomyopathy
c.114+3G>A Multiple submitters lethal congenital glycogen storage disease of heart
c.187-3C>T Multiple submitters lethal congenital glycogen storage disease of heart
c.466+1G>C Multiple submitters lethal congenital glycogen storage disease of heart
c.466+2T>G Multiple submitters lethal congenital glycogen storage disease of heart
c.467-2A>G Multiple submitters Cardiovascular phenotype
c.467-2A>T Multiple submitters lethal congenital glycogen storage disease of heart
c.684+1G>A Multiple submitters Cardiovascular phenotype
c.684+4A>T Multiple submitters lethal congenital glycogen storage disease of heart
c.755-1G>A Multiple submitters Cardiovascular phenotype
c.947-22_947-6dup Multiple submitters lethal congenital glycogen storage disease of heart
c.-15C>T Multiple submitters hypertrophic cardiomyopathy
c.-397G>C Multiple submitters Wolff-Parkinson-White syndrome
c.-481G>A Multiple submitters Wolff-Parkinson-White syndrome
c.-6dup Multiple submitters cardiomyopathy
p.Ala224Thr Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ala229Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala230Val Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ala234dup Multiple submitters Cardiovascular phenotype
p.Ala298Val Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ala304Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala368Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala395Pro Multiple submitters cardiomyopathy ⚠
p.Ala395Val Multiple submitters lethal congenital glycogen storage disease of heart
p.Ala419Thr Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ala437Gly Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ala44Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala4Val Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ala561Pro Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ala561Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg119Ter Multiple submitters lethal congenital glycogen storage disease of heart
p.Arg120Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg120Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg120Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg128Cys Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Arg186Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg186Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg190Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg190His Multiple submitters cardiomyopathy ⚠
p.Arg190Leu Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Arg263Ter Multiple submitters cardiomyopathy
p.Arg30Ser Multiple submitters cardiomyopathy ⚠
p.Arg31Gly Multiple submitters lethal congenital glycogen storage disease of heart
p.Arg350Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg456Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg456Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg501His Multiple submitters cardiomyopathy ⚠
p.Arg61Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg61Ter Multiple submitters hypertrophic cardiomyopathy
p.Arg79Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn139Ser Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Asn299Ser Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Asn488Asp Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Asn512Ile Multiple submitters lethal congenital glycogen storage disease of heart
p.Asp199fs Multiple submitters Cardiovascular phenotype
p.Asp199Tyr Multiple submitters hypertrophic cardiomyopathy 6
p.Asp372Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp372His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp442Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp464Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp491His Multiple submitters Cardiovascular phenotype ⚠
p.Asp51Glu Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Asp522Gly Multiple submitters cardiomyopathy ⚠
p.Asp539Asn Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Asp549Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gln172Pro Multiple submitters cardiomyopathy ⚠
p.Gln210Leu Multiple submitters cardiomyopathy ⚠
p.Gln312fs Multiple submitters hypertrophic cardiomyopathy
p.Gln337His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln409Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln499Glu Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Gln503Arg Multiple submitters Wolff-Parkinson-White syndrome ⚠
p.Gln552Arg Multiple submitters cardiomyopathy
p.Gln563Ter Multiple submitters Cardiovascular phenotype
p.Gln82Glu Multiple submitters cardiomyopathy ⚠
p.Glu178Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu183Gln Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Glu183Lys Multiple submitters Wolff-Parkinson-White syndrome ⚠
p.Glu188Lys Multiple submitters cardiomyopathy ⚠
p.Glu239Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu342Lys Multiple submitters cardiomyopathy ⚠
p.Glu347Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu427Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu454Gly Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Glu465Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu565Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu569fs Multiple submitters cardiomyopathy
p.Glu569Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu569Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gly158Asp Multiple submitters lethal congenital glycogen storage disease of heart
p.Gly18Cys Multiple submitters Cardiovascular phenotype ⚠
p.Gly22Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly236Arg Multiple submitters cardiomyopathy ⚠
p.Gly2Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly300Ser Multiple submitters cardiomyopathy ⚠
p.Gly467Arg Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Gly50Arg Multiple submitters PRKAG2-related disorder ⚠
p.Gly543Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gly54Asp Multiple submitters cardiomyopathy ⚠
p.Gly75Glu Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Gly75Val Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Gly80Ser Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.His222Pro Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.His344Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.His36Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His440Arg Multiple submitters Cardiovascular phenotype ⚠
p.His500Tyr Multiple submitters lethal congenital glycogen storage disease of heart
p.Ile126Val Multiple submitters cardiomyopathy ⚠
p.Ile391Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile398Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile439Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile445Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile446Val Multiple submitters cardiomyopathy ⚠
p.Ile492Asn Multiple submitters hypertrophic cardiomyopathy 6 ⚠
p.Leu159Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu327Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu40Gln Multiple submitters hypertrophic cardiomyopathy 6
p.Leu52Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu547Val Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Leu556Val Multiple submitters Cardiovascular phenotype ⚠
p.Lys11Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys11Ile Multiple submitters Cardiovascular phenotype
p.Lys132Arg Multiple submitters cardiomyopathy ⚠
p.Lys181Gln Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Lys227Gln Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Lys227Glu Multiple submitters cardiomyopathy ⚠
p.Lys310Glu Multiple submitters cardiomyopathy ⚠
p.Lys311Asn Multiple submitters cardiomyopathy ⚠
p.Lys402Glu Multiple submitters cardiomyopathy ⚠
p.Lys510Arg Multiple submitters cardiomyopathy ⚠
p.Lys62Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys9Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys9Met Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Met121Leu Multiple submitters Cardiovascular phenotype ⚠
p.Met121Val Multiple submitters Cardiovascular phenotype ⚠
p.Met262Ile Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Met335Val Multiple submitters Cardiovascular phenotype ⚠
p.Phe323Cys Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Phe371Tyr Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Phe438Ser Multiple submitters Cardiovascular phenotype
p.Phe67Cys Multiple submitters cardiomyopathy ⚠
p.Pro114Arg Multiple submitters Cardiovascular phenotype
p.Pro118Ser Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Pro136Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro140Ser Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Pro144Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro163Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro166Ser Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Pro184Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro197Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro197Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro198Ala Multiple submitters cardiomyopathy ⚠
p.Pro198Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro206Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro212Ser Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Pro38Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro441Ser Multiple submitters Cardiovascular phenotype
p.Pro46Leu Multiple submitters lethal congenital glycogen storage disease of heart
p.Pro66Ser Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Pro88Thr Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Pro92His Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Pro92Thr Multiple submitters cardiomyopathy ⚠
p.Pro99Ser Multiple submitters cardiomyopathy ⚠
p.Ser109del Multiple submitters cardiomyopathy
p.Ser117Phe Multiple submitters Cardiovascular phenotype
p.Ser122Asn Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ser130Phe Multiple submitters hypertrophic cardiomyopathy
p.Ser131Cys Multiple submitters cardiomyopathy ⚠
p.Ser131Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser143Leu Multiple submitters cardiomyopathy ⚠
p.Ser153Cys Multiple submitters cardiomyopathy ⚠
p.Ser157dup Multiple submitters cardiomyopathy
p.Ser161Phe Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ser162del Multiple submitters cardiomyopathy
p.Ser162Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser16Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser179Cys Multiple submitters cardiomyopathy ⚠
p.Ser196Phe Multiple submitters cardiomyopathy ⚠
p.Ser207Cys Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ser207Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser208Thr Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ser313Asn Multiple submitters cardiomyopathy ⚠
p.Ser333Ala Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ser3Asn Multiple submitters Cardiovascular phenotype
p.Ser413Cys Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ser42Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser458Ala Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Ser474Ala Multiple submitters lethal congenital glycogen storage disease of heart
p.Ser540Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser546Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser60Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ser90Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser98Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ter570Gly Multiple submitters cardiomyopathy
p.Thr167Ile Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Thr213Ile Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr221Ala Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Thr357Ile Multiple submitters cardiomyopathy ⚠
p.Thr400Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr432Ala Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Thr432Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr519Ala Multiple submitters cardiomyopathy ⚠
p.Tyr180Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Tyr223Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Tyr261fs Multiple submitters Cardiovascular phenotype
p.Val105Ala Multiple submitters hypertrophic cardiomyopathy
p.Val253Ala Multiple submitters cardiomyopathy ⚠
p.Val253del Multiple submitters cardiomyopathy
p.Val253Ile Multiple submitters cardiomyopathy ⚠
p.Val289Ile Multiple submitters Wolff-Parkinson-White syndrome ⚠
p.Val289Leu Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Val315Ile Multiple submitters hypertrophic cardiomyopathy ⚠
p.Val336Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val387Ile Multiple submitters cardiomyopathy ⚠
p.Val453Met Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Val478Ile Multiple submitters hypertrophic cardiomyopathy ⚠
p.Val521Met Multiple submitters cardiomyopathy
p.Val542Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val63Met Multiple submitters lethal congenital glycogen storage disease of heart ⚠
p.Val93Ala Multiple submitters Wolff-Parkinson-White syndrome ⚠
c.1006-1G>A Single submitter Cardiovascular phenotype
c.1006-5T>A Single submitter cardiomyopathy
c.1051_1051+1dup Single submitter hypertrophic cardiomyopathy
c.1051+6C>G Single submitter lethal congenital glycogen storage disease of heart
c.1106+4A>C Single submitter lethal congenital glycogen storage disease of heart
c.1107-4A>T Single submitter hypertrophic cardiomyopathy
c.1107-5dup Single submitter hypertrophic cardiomyopathy
c.114+2T>G Single submitter Cardiovascular phenotype
c.1233+1G>C Single submitter lethal congenital glycogen storage disease of heart
c.1234-2A>G Single submitter hypertrophic cardiomyopathy 6
c.1400-4T>A Single submitter hypertrophic cardiomyopathy
c.1437+1G>A Single submitter cardiomyopathy
c.1437+1G>T Single submitter hypertrophic cardiomyopathy
c.1437+2dup Single submitter lethal congenital glycogen storage disease of heart
c.1437+6T>C Single submitter lethal congenital glycogen storage disease of heart
c.1584+3G>A Single submitter lethal congenital glycogen storage disease of heart
c.1679-1G>A Single submitter lethal congenital glycogen storage disease of heart
c.1679-8dup Single submitter cardiomyopathy
c.186+3A>G Single submitter lethal congenital glycogen storage disease of heart
c.186+4A>C Single submitter lethal congenital glycogen storage disease of heart
c.466+18T>C Single submitter lethal congenital glycogen storage disease of heart
c.466+1G>A Single submitter lethal congenital glycogen storage disease of heart
c.466+45140C>T Single submitter
c.466+45155_466+45156delinsTT Single submitter Cardiovascular phenotype
c.466+45210C>T Single submitter
c.466+45225C>A Single submitter
c.466+6A>G Single submitter lethal congenital glycogen storage disease of heart
c.467-1G>T Single submitter
c.684+1G>C Single submitter lethal congenital glycogen storage disease of heart
c.754+15_754+45del Single submitter lethal congenital glycogen storage disease of heart
c.755-2A>G Single submitter hypertrophic cardiomyopathy
c.755-8del Single submitter hypertrophic cardiomyopathy
c.864+3_864+6del Single submitter Cardiovascular phenotype
c.947-10T>G Single submitter
c.947-19_947-18del Single submitter lethal congenital glycogen storage disease of heart
c.-12C>G Single submitter cardiomyopathy
c.-1T>C Single submitter hypertrophic cardiomyopathy
c.-249G>C Single submitter hypertrophic cardiomyopathy 6
c.-252C>T Single submitter hypertrophic cardiomyopathy 6
c.-262C>T Single submitter hypertrophic cardiomyopathy 6
c.-3G>A Single submitter cardiomyopathy
c.-6AG[1] Single submitter cardiomyopathy
c.*1012T>G Single submitter hypertrophic cardiomyopathy 6
c.*1021T>G Single submitter Wolff-Parkinson-White syndrome
c.*1029dup Single submitter
c.*1040dup Single submitter
c.*1043G>A Single submitter hypertrophic cardiomyopathy 6
c.*156A>G Single submitter Wolff-Parkinson-White syndrome
c.*256T>G Single submitter Wolff-Parkinson-White syndrome
c.*398C>T Single submitter hypertrophic cardiomyopathy 6
c.*419C>T Single submitter hypertrophic cardiomyopathy 6
c.*450T>C Single submitter Wolff-Parkinson-White syndrome
c.*471T>C Single submitter hypertrophic cardiomyopathy 6
c.*612G>A Single submitter hypertrophic cardiomyopathy 6
c.*771C>T Single submitter Wolff-Parkinson-White syndrome
c.*835T>C Single submitter hypertrophic cardiomyopathy 6
c.*887G>A Single submitter hypertrophic cardiomyopathy 6
c.*953T>A Single submitter Wolff-Parkinson-White syndrome
c.*964G>A Single submitter hypertrophic cardiomyopathy 6
p.Ala141del Single submitter lethal congenital glycogen storage disease of heart
p.Ala218Val Single submitter hypertrophic cardiomyopathy ⚠
p.Ala228Gly Single submitter Cardiovascular phenotype ⚠
p.Ala228Ser Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ala233Glu Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ala233Val Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ala240Asp Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ala292Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Ala298Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala368Thr Single submitter cardiomyopathy ⚠
p.Ala395Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala459Val Single submitter hypertrophic cardiomyopathy 6 ⚠
p.Ala482Ser Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ala482Thr Single submitter lethal congenital glycogen storage disease of heart ⚠
p.Ala553Asp Single submitter cardiomyopathy ⚠
p.Ala559Glu Single submitter Cardiovascular phenotype
p.Ala559Val Single submitter cardiomyopathy ⚠