GAA — 3332 ClinVar variants

All ClinVar germline GAA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1080 flagged for review →

360 Pathogenic · 79 Pathogenic/Likely pathogenic · 321 Likely pathogenic · 221 Conflicting · 139 Benign · 33 Benign/Likely benign · 1010 Likely benign · 1169 Uncertain significance

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

⚑ Evidence disagreements 1080

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 vs ClinVar 26

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

GAA p.Arg224Gln Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Arg224Trp Pathogenic Expert panel
glycogen storage disease II
GAA p.Arg437Cys Pathogenic Expert panel
glycogen storage disease II
GAA p.Arg819Trp Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Gly611Ser Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Met318Thr Pathogenic Expert panel
glycogen storage disease II
GAA p.Met408Val Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Pro266Ser Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Pro493Leu Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Pro493Ser Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Thr614Met Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Arg585Lys Pathogenic/Likely pathogenic Multiple submitters
glycogen storage disease II
GAA p.Asp419Val Likely pathogenic Multiple submitters
glycogen storage disease II
GAA p.Ala555Val Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Arg585Met Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Asn316Ser Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Asn570Ser Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Asp243Asn Likely pathogenic Single submitter
GAA p.Asp243Glu Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Gly546Arg Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Gly546Glu Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Gly549Glu Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Pro511His Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Ser529Ala Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Ser619Gly Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Thr711Ser Likely pathogenic Single submitter
glycogen storage disease II

Predictors agree, ClinVar conflicts 99

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

GAA p.Ala204Thr Conflicting Single submitter
glycogen storage disease II
GAA p.Ala289Val Conflicting Single submitter
Cardiovascular phenotype
GAA p.Ala486Ser Conflicting Single submitter
glycogen storage disease II
GAA p.Ala719Glu Conflicting Single submitter
Cardiovascular phenotype
GAA p.Ala719Ser Conflicting Single submitter
glycogen storage disease II
GAA p.Ala724Asp Conflicting Single submitter
glycogen storage disease II
GAA p.Ala749Ser Conflicting Single submitter
glycogen storage disease II
GAA p.Ala93Thr Conflicting Single submitter
glycogen storage disease II
GAA p.Arg11Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Arg154Cys Conflicting Single submitter
glycogen storage disease II
GAA p.Arg168Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Arg168Pro Conflicting Single submitter
glycogen storage disease II
GAA p.Arg190Cys Conflicting Single submitter
glycogen storage disease II
GAA p.Arg190Leu Conflicting Single submitter
glycogen storage disease II
GAA p.Arg40Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Arg411Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Arg422Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Arg437Ser Conflicting Single submitter
glycogen storage disease II
GAA p.Arg600Pro Conflicting Single submitter
glycogen storage disease II
GAA p.Arg608Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Arg66Gln Conflicting Single submitter
Cardiovascular phenotype
GAA p.Arg672Gly Conflicting Single submitter
glycogen storage disease II
GAA p.Arg74His Conflicting Single submitter
glycogen storage disease II
GAA p.Arg794His Conflicting Single submitter
Cardiovascular phenotype
GAA p.Arg854Gln Conflicting Single submitter
Cardiovascular phenotype
GAA p.Arg870Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Arg891His Conflicting Single submitter
glycogen storage disease II
GAA p.Arg89Leu Conflicting Single submitter
glycogen storage disease II
GAA p.Asn520Ile Conflicting Single submitter
glycogen storage disease II
GAA p.Asn520Lys Conflicting Single submitter
glycogen storage disease II
GAA p.Asp282His Conflicting Single submitter
glycogen storage disease II
GAA p.Asp459His Conflicting Single submitter
glycogen storage disease II
GAA p.Asp616Asn Conflicting Single submitter
glycogen storage disease II
GAA p.Asp616Glu Conflicting Single submitter
glycogen storage disease II
GAA p.Asp774Asn Conflicting Single submitter
glycogen storage disease II
GAA p.Cys108Tyr Conflicting Single submitter
glycogen storage disease II
GAA p.Cys558Tyr Conflicting Single submitter
glycogen storage disease II
GAA p.Cys647Tyr Conflicting Single submitter
glycogen storage disease II
GAA p.Gln121Arg Conflicting Single submitter
long QT syndrome
GAA p.Gln244His Conflicting Single submitter
glycogen storage disease II
GAA p.Glu471Lys Conflicting Single submitter
glycogen storage disease II
GAA p.Glu539Lys Conflicting Single submitter
glycogen storage disease II
GAA p.Gly483Val Conflicting Single submitter
glycogen storage disease II
GAA p.Gly528Ala Conflicting Single submitter
glycogen storage disease II
GAA p.Gly576Asp Conflicting Single submitter
glycogen storage disease II
GAA p.Gly638Glu Conflicting Single submitter
glycogen storage disease II
GAA p.Gly643Ala Conflicting Single submitter
glycogen storage disease II
GAA p.Gly765Asp Conflicting Single submitter
glycogen storage disease II
GAA p.His372Tyr Conflicting Single submitter
glycogen storage disease II
GAA p.His568Gln Conflicting Single submitter
glycogen storage disease II
GAA p.His568Leu Conflicting Single submitter
glycogen storage disease II
GAA p.His612Tyr Conflicting Single submitter
glycogen storage disease II
GAA p.His674Tyr Conflicting Single submitter
glycogen storage disease II
GAA p.His708Tyr Conflicting Single submitter
glycogen storage disease II
GAA p.Ile383Val Conflicting Single submitter
Cardiovascular phenotype
GAA p.Ile798Val Conflicting Single submitter
glycogen storage disease II
GAA p.Leu312Arg Conflicting Single submitter
glycogen storage disease II
GAA p.Leu369Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Leu373Arg Conflicting Single submitter
glycogen storage disease II
GAA p.Leu398Pro Conflicting Single submitter
glycogen storage disease II
GAA p.Leu574Phe Conflicting Single submitter
Cardiovascular phenotype
GAA p.Leu637Met Conflicting Single submitter
glycogen storage disease II
GAA p.Leu699Pro Conflicting Single submitter
glycogen storage disease II
GAA p.Leu775Met Conflicting Single submitter
glycogen storage disease II
GAA p.Leu935Pro Conflicting Single submitter
glycogen storage disease II
GAA p.Met122Val Conflicting Single submitter
glycogen storage disease II
GAA p.Met408Thr Conflicting Single submitter
glycogen storage disease II
GAA p.Met427Thr Conflicting Single submitter
glycogen storage disease II
GAA p.Met519Val Conflicting Single submitter
glycogen storage disease II
GAA p.Pro205Leu Conflicting Single submitter
glycogen storage disease II
GAA p.Pro444Arg Conflicting Single submitter
glycogen storage disease II
GAA p.Pro457His Conflicting Single submitter
glycogen storage disease II
GAA p.Pro488Leu Conflicting Single submitter
glycogen storage disease II
GAA p.Pro669Leu Conflicting Single submitter
glycogen storage disease II
GAA p.Pro684Arg Conflicting Single submitter
glycogen storage disease II
GAA p.Pro684Leu Conflicting Single submitter
glycogen storage disease II
GAA p.Pro86Arg Conflicting Single submitter
Cardiovascular phenotype
GAA p.Pro913Arg Conflicting Single submitter
glycogen storage disease II
GAA p.Ser251Leu Conflicting Single submitter
glycogen storage disease II
GAA p.Ser265Asn Conflicting Single submitter
glycogen storage disease II
GAA p.Ser410Phe Conflicting Single submitter
glycogen storage disease II
GAA p.Ser599Phe Conflicting Single submitter
glycogen storage disease II
GAA p.Ser626Ala Conflicting Single submitter
Cardiovascular phenotype
GAA p.Ser736Asn Conflicting Single submitter
Cardiovascular phenotype
GAA p.Ser800Ile Conflicting Single submitter
glycogen storage disease II
GAA p.Thr23Ala Conflicting Single submitter
glycogen storage disease II
GAA p.Thr711Pro Conflicting Single submitter
glycogen storage disease II
GAA p.Thr739Ser Conflicting Single submitter
Cardiovascular phenotype
GAA p.Trp621Arg Conflicting Single submitter
glycogen storage disease II
GAA p.Tyr292His Conflicting Single submitter
glycogen storage disease II
GAA p.Tyr407Cys Conflicting Single submitter
glycogen storage disease II
GAA p.Tyr455Cys Conflicting Single submitter
glycogen storage disease II
GAA p.Tyr766Asn Conflicting Single submitter
glycogen storage disease II
GAA p.Tyr766His Conflicting Single submitter
glycogen storage disease II
GAA p.Val646Ile Conflicting Single submitter
glycogen storage disease II
GAA p.Val84Ile Conflicting Single submitter
glycogen storage disease II
GAA p.Val886Met Conflicting Single submitter
glycogen storage disease II
GAA p.Val906Ile Conflicting Single submitter
glycogen storage disease II
GAA p.Val949Asp Conflicting Single submitter
glycogen storage disease II

Predictors lean, ClinVar uncertain 698

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 698

GAA p.Ala261Thr Uncertain significance Expert panel
glycogen storage disease II
GAA p.Ala610Thr Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg106Cys Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg375Cys Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg594Cys Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg702Pro Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg89Cys Uncertain significance Expert panel
glycogen storage disease II
GAA p.Cys647Phe Uncertain significance Expert panel
glycogen storage disease II
GAA p.Gly44Val Uncertain significance Expert panel
glycogen storage disease II
GAA p.His799Tyr Uncertain significance Expert panel
glycogen storage disease II
GAA p.Ile823Phe Uncertain significance Expert panel
glycogen storage disease II
GAA p.Pro324Leu Uncertain significance Expert panel
glycogen storage disease II
GAA p.Pro397Leu Uncertain significance Expert panel
glycogen storage disease II
GAA p.Ser449Leu Uncertain significance Expert panel
glycogen storage disease II
GAA p.Thr182Arg Uncertain significance Expert panel
glycogen storage disease II
GAA p.Trp772Cys Uncertain significance Expert panel
glycogen storage disease II
GAA p.Tyr340Cys Uncertain significance Expert panel
glycogen storage disease II
GAA p.Val350Met Uncertain significance Expert panel
glycogen storage disease II
GAA p.Val544Met Uncertain significance Expert panel
glycogen storage disease II
GAA p.Val642Phe Uncertain significance Expert panel
glycogen storage disease II
GAA p.Ala120Gly Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala17Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala187Gly Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala237Glu Uncertain significance Multiple submitters
GAA p.Ala24Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Ala25Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala284Gly Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala284Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala289Glu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala382Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala486Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala495Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala554Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala582Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala625Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Ala68Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala698Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala704Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala704Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala719Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala719Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Ala77Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala820Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg168Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg168Trp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg203Trp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg229Cys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg229His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg411Trp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg422Trp Uncertain significance Multiple submitters
GAA-related disorder
GAA p.Arg436Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg437His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg463Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg4Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg608Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg66Trp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg794Cys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg891Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn140Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn177Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn535Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn536Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn573Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn673Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn87Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn87Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp163Asn Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp163Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp338Tyr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp338Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp404Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp459Glu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp83Asn Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp861His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp931Asn Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Cys127Tyr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln100Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln124Glu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln433His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln553Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln663His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln69Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln69Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Gln827Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln914Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln915His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu104Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu104Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu145Asp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu215Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu389Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu50Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu655Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Glu721Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu801Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu835Asp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu866Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Glu866Asp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu866Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu945Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly107Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly116Glu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly116Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Gly228Asp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly288Asp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly288Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly2Ala Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly304Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Gly370Asp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly370Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly461Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly514Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly532Cys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly607Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly651Val Uncertain significance Multiple submitters
GAA p.Gly73Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly747Trp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly920Asp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly920Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His308Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His33Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His53Arg Uncertain significance Multiple submitters
GAA p.His572Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His572Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His584Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His606Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His612Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His612Asn Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His612Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His708Asn Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.His71Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ile336Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ile468Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu138Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu169Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu239Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu246Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu264Phe Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu26Phe Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu37Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu398Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu476Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu571Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Leu624Phe Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu624Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu632Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu745Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu769Phe Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu769Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu843Pro Uncertain significance Multiple submitters
glycogen storage disease II

Predictors split 257

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 257

GAA p.Ala237Val Uncertain significance Expert panel
glycogen storage disease II
GAA p.Ala486Pro Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Arg281Gln Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg464Trp Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg702His Pathogenic Expert panel
glycogen storage disease II
GAA p.Arg725Gln Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg837His Uncertain significance Expert panel
glycogen storage disease II
GAA p.Arg89His Uncertain significance Expert panel
glycogen storage disease II
GAA p.Asn290Asp Uncertain significance Expert panel
glycogen storage disease II
GAA p.Asn470Thr Uncertain significance Expert panel
glycogen storage disease II
GAA p.Asp413Glu Uncertain significance Expert panel
glycogen storage disease II
GAA p.Asp741Asn Uncertain significance Expert panel
glycogen storage disease II
GAA p.Gln803Arg Uncertain significance Expert panel
glycogen storage disease II
GAA p.Glu430Lys Uncertain significance Expert panel
glycogen storage disease II
GAA p.Gly219Arg Pathogenic Expert panel
glycogen storage disease II
GAA p.Gly549Arg Likely pathogenic Expert panel
glycogen storage disease II
GAA p.His295Asn Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Leu291Phe Pathogenic Expert panel
glycogen storage disease II
GAA p.Met502Val Uncertain significance Expert panel
glycogen storage disease II
GAA p.Pro266Leu Uncertain significance Expert panel
glycogen storage disease II
GAA p.Pro266Thr Uncertain significance Expert panel
glycogen storage disease II
GAA p.Pro285Ser Likely pathogenic Expert panel
glycogen storage disease II
GAA p.Pro451Arg Likely benign Expert panel
glycogen storage disease II
GAA p.Pro522Ala Pathogenic Expert panel
glycogen storage disease II
GAA p.Thr234Met Uncertain significance Expert panel
glycogen storage disease II
GAA p.Thr806Met Uncertain significance Expert panel
glycogen storage disease II
GAA p.Trp746Leu Uncertain significance Expert panel
glycogen storage disease II
GAA p.Tyr928Cys Uncertain significance Expert panel
glycogen storage disease II
GAA p.Val230Met Uncertain significance Expert panel
glycogen storage disease II
GAA p.Ala150Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala394Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala582Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala586Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala610Val Pathogenic/Likely pathogenic Multiple submitters
glycogen storage disease II
GAA p.Ala644Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala698Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ala846Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg154His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg223Cys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg385Cys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg385His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg436Trp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg463Trp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg591Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg591Trp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg837Cys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Arg870Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Arg891Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn470Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn520Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asn815Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp741Glu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Asp741Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln323His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln353His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln386His Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gln757Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu192Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu212Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu262Gln Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu460Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu500Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Glu521Gln Pathogenic/Likely pathogenic Multiple submitters
glycogen storage disease II
GAA p.Glu762Lys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly368Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly377Arg Pathogenic/Likely pathogenic Multiple submitters
glycogen storage disease II
GAA p.Gly453Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly473Ala Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly473Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly549Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Gly651Asp Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Gly759Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Gly802Arg Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ile183Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ile823Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu208Pro Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Leu26Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Leu405Pro Pathogenic/Likely pathogenic Multiple submitters
glycogen storage disease II
GAA p.Leu811Val Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Met391Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Met671Val Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Phe241Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Phe396Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Phe506Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Phe564Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Phe667Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Phe713Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro253Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Pro364Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro425Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Pro425Ser Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro451Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro457Thr Uncertain significance Multiple submitters
GAA p.Pro475Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro511Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro534Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro629Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro669Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro808Leu Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Pro94Thr Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ser454Asn Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Ser523Cys Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Thr149Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Thr182Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Thr469Ile Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Thr722Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Tyr256Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Tyr575Phe Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Tyr609His Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Val171Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Val211Met Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Val222Met Benign/Likely benign Multiple submitters
glycogen storage disease II
GAA p.Val321Phe Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Val357Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Val387Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Val442Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Val503Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Val547Met Uncertain significance Multiple submitters
glycogen storage disease II
GAA p.Val617Met Uncertain significance Multiple submitters
Cardiovascular phenotype
GAA p.Ala327Thr Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala554Pro Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala555Pro Conflicting Single submitter
glycogen storage disease II
GAA p.Ala580Val Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala582Ser Uncertain significance Single submitter
GAA p.Ala582Val Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala586Ser Uncertain significance Single submitter
GAA p.Ala644Ser Conflicting Single submitter
glycogen storage disease II
GAA p.Ala644Val Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala666Ser Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala666Thr Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala719Pro Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala724Thr Uncertain significance Single submitter
glycogen storage disease II
GAA p.Ala820Asp Uncertain significance Single submitter
Cardiovascular phenotype
GAA p.Ala820Val Uncertain significance Single submitter
glycogen storage disease II
GAA p.Arg106His Conflicting Single submitter
glycogen storage disease II
GAA p.Arg154Pro Conflicting Single submitter
glycogen storage disease II
GAA p.Arg178Cys Conflicting Single submitter
glycogen storage disease II
GAA p.Arg178His Conflicting Single submitter
Cardiovascular phenotype
GAA p.Arg224Leu Likely pathogenic Single submitter
glycogen storage disease II
GAA p.Arg375His Conflicting Single submitter
glycogen storage disease II
GAA p.Arg393Thr Uncertain significance Single submitter
glycogen storage disease II
GAA p.Arg585Trp Uncertain significance Single submitter
glycogen storage disease II
GAA p.Arg608Gly Uncertain significance Single submitter
glycogen storage disease II
GAA p.Arg819Gln Conflicting Single submitter
glycogen storage disease II
GAA p.Arg854Gly Uncertain significance Single submitter
glycogen storage disease II
GAA p.Arg891Cys Conflicting Single submitter
glycogen storage disease II
GAA p.Asn140Ile Uncertain significance Single submitter
glycogen storage disease II
GAA p.Asn675Ser Uncertain significance Single submitter
glycogen storage disease II
GAA p.Asn815Thr Uncertain significance Single submitter
glycogen storage disease II
GAA p.Asp227Tyr Uncertain significance Single submitter
glycogen storage disease II

All GAA variants

Pathogenic 360

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

c.1076-1G>C Expert panel glycogen storage disease II
c.1076-22T>G Expert panel glycogen storage disease II
c.1326+1G>A Expert panel glycogen storage disease II
c.1327-2A>G Expert panel glycogen storage disease II
c.1437+2T>C Expert panel glycogen storage disease II
c.1438-1G>C Expert panel glycogen storage disease II
c.1438-2A>G Expert panel glycogen storage disease II
c.1551+1G>A Expert panel glycogen storage disease II
c.1551+1G>C Expert panel glycogen storage disease II
c.1551+1G>T Expert panel glycogen storage disease II
c.1551+3_1551+6del Expert panel glycogen storage disease II
c.1552-2A>C Expert panel glycogen storage disease II
c.1754+1G>A Expert panel glycogen storage disease II
c.1754+2T>A Expert panel glycogen storage disease II
c.2040+1G>T Expert panel glycogen storage disease II
c.2189+459_*546del Expert panel glycogen storage disease II
c.2331+2T>A Expert panel glycogen storage disease II
c.2481+110_2646+39del Expert panel glycogen storage disease II
c.546+1G>T Expert panel glycogen storage disease II
c.692+1G>A Expert panel glycogen storage disease II
c.692+1G>C Expert panel glycogen storage disease II
c.955+1G>A Expert panel glycogen storage disease II
c.-32-13T>G Expert panel glycogen storage disease II
c.-32-3C>A Expert panel glycogen storage disease II
p.Ala14fs Expert panel glycogen storage disease II
p.Ala382fs Expert panel glycogen storage disease II
p.Ala610fs Expert panel glycogen storage disease II
p.Ala761fs Expert panel glycogen storage disease II
p.Arg224Trp Expert panel glycogen storage disease II ⚠
p.Arg375Leu Expert panel glycogen storage disease II
p.Arg385fs Expert panel glycogen storage disease II
p.Arg40Ter Expert panel glycogen storage disease II
p.Arg437Cys Expert panel glycogen storage disease II ⚠
p.Arg527fs Expert panel glycogen storage disease II
p.Arg594His Expert panel glycogen storage disease II
p.Arg600Cys Expert panel glycogen storage disease II
p.Arg600His Expert panel glycogen storage disease II
p.Arg608_Tyr609insTer Expert panel glycogen storage disease II
p.Arg608Ter Expert panel glycogen storage disease II
p.Arg660Cys Expert panel glycogen storage disease II
p.Arg660His Expert panel glycogen storage disease II
p.Arg672Trp Expert panel glycogen storage disease II
p.Arg702Cys Expert panel glycogen storage disease II
p.Arg702His Expert panel glycogen storage disease II ⚠
p.Arg702Leu Expert panel glycogen storage disease II
p.Arg725Trp Expert panel glycogen storage disease II
p.Arg794fs Expert panel glycogen storage disease II
p.Arg854Ter Expert panel glycogen storage disease II
p.Arg870Ter Expert panel glycogen storage disease II
p.Asn470del Expert panel glycogen storage disease II
p.Asn87fs Expert panel glycogen storage disease II
p.Asp404Asn Expert panel glycogen storage disease II
p.Asp489Asn Expert panel glycogen storage disease II
p.Asp645Asn Expert panel glycogen storage disease II
p.Asp645Glu Expert panel glycogen storage disease II
p.Asp645Tyr Expert panel glycogen storage disease II
p.Cys103Gly Expert panel glycogen storage disease II
p.Cys127fs Expert panel glycogen storage disease II
p.Cys647Trp Expert panel glycogen storage disease II
p.Cys82Ter Expert panel glycogen storage disease II
p.Gln115Ter Expert panel glycogen storage disease II
p.Gln118Ter Expert panel glycogen storage disease II
p.Gln255Ter Expert panel glycogen storage disease II
p.Gln353fs Expert panel glycogen storage disease II
p.Gln386Ter Expert panel glycogen storage disease II
p.Gln553Ter Expert panel glycogen storage disease II
p.Gln563Ter Expert panel glycogen storage disease II
p.Gln57Ter Expert panel glycogen storage disease II
p.Gln58Ter Expert panel glycogen storage disease II
p.Gln757Ter Expert panel glycogen storage disease II
p.Gln803Ter Expert panel glycogen storage disease II
p.Gln81Ter Expert panel glycogen storage disease II
p.Gln838Ter Expert panel glycogen storage disease II
p.Glu176fs Expert panel glycogen storage disease II
p.Glu215Ter Expert panel glycogen storage disease II
p.Glu262Lys Expert panel glycogen storage disease II
p.Glu471fs Expert panel glycogen storage disease II
p.Glu521Lys Expert panel glycogen storage disease II
p.Glu521Val Expert panel glycogen storage disease II
p.Glu579Lys Expert panel glycogen storage disease II
p.Glu721Ter Expert panel glycogen storage disease II
p.Glu730Ter Expert panel glycogen storage disease II
p.Glu748fs Expert panel glycogen storage disease II
p.Glu748Ter Expert panel glycogen storage disease II
p.Glu795fs Expert panel glycogen storage disease II
p.Glu795Ter Expert panel glycogen storage disease II
p.Glu888Ter Expert panel glycogen storage disease II
p.Gly219Arg Expert panel glycogen storage disease II ⚠
p.Gly309Arg Expert panel glycogen storage disease II
p.Gly359Arg Expert panel glycogen storage disease II
p.Gly359Ter Expert panel glycogen storage disease II
p.Gly478Arg Expert panel glycogen storage disease II
p.Gly483Arg Expert panel glycogen storage disease II
p.Gly615Arg Expert panel glycogen storage disease II
p.Gly638Trp Expert panel glycogen storage disease II
p.Gly638Val Expert panel glycogen storage disease II
p.Gly643Arg Expert panel glycogen storage disease II
p.Gly648Ser Expert panel glycogen storage disease II
p.His714fs Expert panel glycogen storage disease II
p.Ile276fs Expert panel glycogen storage disease II
p.Ile477fs Expert panel glycogen storage disease II
p.Ile557Phe Expert panel glycogen storage disease II
p.Leu248fs Expert panel glycogen storage disease II
p.Leu291Phe Expert panel glycogen storage disease II ⚠
p.Leu291Pro Expert panel glycogen storage disease II
p.Leu299Pro Expert panel glycogen storage disease II
p.Leu355Pro Expert panel glycogen storage disease II
p.Leu398fs Expert panel glycogen storage disease II
p.Leu552fs Expert panel glycogen storage disease II
p.Leu552Pro Expert panel glycogen storage disease II
p.Leu729fs Expert panel glycogen storage disease II
p.Leu811fs Expert panel glycogen storage disease II
p.Lys114fs Expert panel glycogen storage disease II
p.Lys849fs Expert panel glycogen storage disease II
p.Lys903fs Expert panel glycogen storage disease II
p.Met122fs Expert panel glycogen storage disease II
p.Met146fs Expert panel glycogen storage disease II
p.Met1Thr Expert panel glycogen storage disease II
p.Met1Val Expert panel glycogen storage disease II
p.Met318Thr Expert panel glycogen storage disease II ⚠
p.Met439Lys Expert panel glycogen storage disease II
p.Met519Thr Expert panel glycogen storage disease II
p.Phe241fs Expert panel glycogen storage disease II
p.Phe414fs Expert panel glycogen storage disease II
p.Phe713fs Expert panel glycogen storage disease II
p.Phe767fs Expert panel glycogen storage disease II
p.Pro161fs Expert panel glycogen storage disease II
p.Pro253fs Expert panel glycogen storage disease II
p.Pro361Leu Expert panel glycogen storage disease II
p.Pro522Ala Expert panel glycogen storage disease II ⚠
p.Pro545Leu Expert panel glycogen storage disease II
p.Pro79fs Expert panel glycogen storage disease II
p.Ser325fs Expert panel glycogen storage disease II
p.Ser601Leu Expert panel glycogen storage disease II
p.Ser601Ter Expert panel glycogen storage disease II
p.Ser619Asn Expert panel glycogen storage disease II
p.Ser627Phe Expert panel glycogen storage disease II
p.Thr182= Expert panel glycogen storage disease II
p.Thr614Lys Expert panel glycogen storage disease II
p.Thr834fs Expert panel glycogen storage disease II
p.Trp126Ter Expert panel glycogen storage disease II
p.Trp330Ter Expert panel glycogen storage disease II
p.Trp376fs Expert panel glycogen storage disease II
p.Trp481Arg Expert panel glycogen storage disease II
p.Trp499Ter Expert panel glycogen storage disease II
p.Trp516Ter Expert panel glycogen storage disease II
p.Trp738Ter Expert panel glycogen storage disease II
p.Trp746Ter Expert panel glycogen storage disease II
p.Trp804Ter Expert panel glycogen storage disease II
p.Tyr133Ter Expert panel glycogen storage disease II
p.Tyr148Ter Expert panel glycogen storage disease II
p.Tyr191Ter Expert panel glycogen storage disease II
p.Tyr256fs Expert panel glycogen storage disease II
p.Tyr292Ter Expert panel glycogen storage disease II
p.Tyr354Ter Expert panel glycogen storage disease II
p.Tyr575Ter Expert panel glycogen storage disease II
p.Tyr609Ter Expert panel glycogen storage disease II
p.Tyr685Ter Expert panel glycogen storage disease II
p.Tyr766Cys Expert panel glycogen storage disease II
p.Tyr766Ser Expert panel glycogen storage disease II
p.Val351fs Expert panel glycogen storage disease II
p.Val617fs Expert panel glycogen storage disease II
p.Val646fs Expert panel glycogen storage disease II
p.Val723_Leu727delinsCysAspValVal Expert panel glycogen storage disease II
p.Val755fs Expert panel glycogen storage disease II
p.Val886fs Expert panel glycogen storage disease II
p.Val939fs Expert panel glycogen storage disease II
c.1076-2A>G Multiple submitters glycogen storage disease II
c.1195-1G>A Multiple submitters glycogen storage disease II
c.1637-2A>G Multiple submitters glycogen storage disease II
c.2331+1G>A Multiple submitters glycogen storage disease II
c.546+2_546+5del Multiple submitters glycogen storage disease II
c.547-1G>C Multiple submitters glycogen storage disease II
c.692+1G>T Multiple submitters glycogen storage disease II
p.Ala559fs Multiple submitters glycogen storage disease II
p.Ala691fs Multiple submitters GAA-related disorders
p.Ala694fs Multiple submitters disorder of glycogen metabolism
p.Arg725fs Multiple submitters glycogen storage disease II
p.Asn520fs Multiple submitters glycogen storage disease II
p.Asp489fs Multiple submitters glycogen storage disease II
p.Asp616fs Multiple submitters glycogen storage disease II
p.Cys103Ter Multiple submitters glycogen storage disease II
p.Gln663fs Multiple submitters glycogen storage disease II
p.Gln663Ter Multiple submitters glycogen storage disease II
p.Gln692Ter Multiple submitters glycogen storage disease II
p.Gln743Ter Multiple submitters glycogen storage disease II
p.Gln81fs Multiple submitters glycogen storage disease II
p.Gln827Ter Multiple submitters glycogen storage disease II
p.Gln875Ter Multiple submitters glycogen storage disease II
p.Glu389fs Multiple submitters glycogen storage disease II
p.Glu471Ter Multiple submitters glycogen storage disease II
p.Glu689fs Multiple submitters glycogen storage disease II
p.His53fs Multiple submitters glycogen storage disease II
p.Ser142fs Multiple submitters glycogen storage disease II
p.Ser214fs Multiple submitters glycogen storage disease II
p.Ser254fs Multiple submitters glycogen storage disease II
p.Ser349fs Multiple submitters GAA-related disorders
p.Thr153fs Multiple submitters glycogen storage disease II
p.Thr551fs Multiple submitters glycogen storage disease II
p.Thr832fs Multiple submitters glycogen storage disease II
p.Trp481Ter Multiple submitters glycogen storage disease II
p.Trp498Ter Multiple submitters glycogen storage disease II
p.Trp618Ter Multiple submitters glycogen storage disease II
p.Trp859Ter Multiple submitters glycogen storage disease II
p.Tyr292Cys Multiple submitters glycogen storage disease II
p.Tyr438Ter Multiple submitters glycogen storage disease II
p.Tyr543fs Multiple submitters disorder of glycogen metabolism
p.Tyr668Ter Multiple submitters glycogen storage disease II
p.Tyr873Ter Multiple submitters glycogen storage disease II
p.Val466fs Multiple submitters glycogen storage disease II
p.Val510fs Multiple submitters glycogen storage disease II
p.Val740fs Multiple submitters glycogen storage disease II
c.1076-1G>A Single submitter glycogen storage disease II
c.1194+2T>A Single submitter glycogen storage disease II
c.1194+2T>C Single submitter glycogen storage disease II
c.1195-19_2190-17del Single submitter glycogen storage disease II
c.1322_1326+9del Single submitter glycogen storage disease II
c.148_859-11del Single submitter glycogen storage disease II
c.1551+2T>G Single submitter glycogen storage disease II
c.1636+1G>C Single submitter glycogen storage disease II
c.1636+5G>C Single submitter glycogen storage disease II
c.1754+1_1754+12delinsCCA Single submitter glycogen storage disease II
c.1754+1dup Single submitter glycogen storage disease II
c.1754+1G>T Single submitter glycogen storage disease II
c.1888+2_1888+15del Single submitter glycogen storage disease II
c.1889-1G>A Single submitter glycogen storage disease II
c.2040+20_2190-274del Single submitter glycogen storage disease II
c.2040+2T>C Single submitter glycogen storage disease II
c.2041-2A>G Single submitter glycogen storage disease II
c.2190-345A>G Single submitter glycogen storage disease II
c.2331+2T>C Single submitter glycogen storage disease II
c.2331+2T>G Single submitter glycogen storage disease II
c.2481+2T>C Single submitter glycogen storage disease II
c.2646+2_2646+3del Single submitter glycogen storage disease II
c.547-2A>G Single submitter glycogen storage disease II
c.692+2_692+3del Single submitter glycogen storage disease II
c.859-2A>T Single submitter glycogen storage disease II
c.955+2T>G Single submitter glycogen storage disease II
c.-32-385_143del Single submitter glycogen storage disease II
p.Ala452fs Single submitter glycogen storage disease II
p.Ala486fs Single submitter glycogen storage disease II
p.Ala495fs Single submitter glycogen storage disease II
p.Ala666fs Single submitter glycogen storage disease II
p.Ala698fs Single submitter glycogen storage disease II
p.Ala749fs Single submitter glycogen storage disease II
p.Ala912fs Single submitter glycogen storage disease II
p.Arg229fs Single submitter glycogen storage disease II
p.Arg437fs Single submitter glycogen storage disease II
p.Arg456fs Single submitter glycogen storage disease II
p.Arg463_Thr469delinsPro Single submitter glycogen storage disease II
p.Arg463fs Single submitter glycogen storage disease II
p.Arg608fs Single submitter glycogen storage disease II
p.Arg66fs Single submitter glycogen storage disease II
p.Asn177fs Single submitter glycogen storage disease II
p.Asn403fs Single submitter glycogen storage disease II
p.Asn673fs Single submitter glycogen storage disease II
p.Asp243fs Single submitter glycogen storage disease II
p.Asp319fs Single submitter glycogen storage disease II
p.Asp409fs Single submitter glycogen storage disease II
p.Asp459Asn Single submitter glycogen storage disease II
p.Asp459fs Single submitter glycogen storage disease II
p.Asp531fs Single submitter glycogen storage disease II
p.Asp67fs Single submitter glycogen storage disease II
p.Asp774fs Single submitter glycogen storage disease II
p.Asp91fs Single submitter glycogen storage disease II
p.Cys8fs Single submitter glycogen storage disease II
p.Gln244Ter Single submitter glycogen storage disease II
p.Gln247Ter Single submitter glycogen storage disease II
p.Gln353Ter Single submitter glycogen storage disease II
p.Gln429Ter Single submitter glycogen storage disease II
p.Gln433fs Single submitter glycogen storage disease II
p.Gln474fs Single submitter glycogen storage disease II
p.Gln474Ter Single submitter glycogen storage disease II
p.Gln563fs Single submitter glycogen storage disease II
p.Gln839Ter Single submitter glycogen storage disease II
p.Gln902_Lys903del Single submitter glycogen storage disease II
p.Gln902fs Single submitter glycogen storage disease II
p.Gln915fs Single submitter glycogen storage disease II
p.Gln915Ter Single submitter glycogen storage disease II
p.Glu174fs Single submitter glycogen storage disease II
p.Glu196fs Single submitter glycogen storage disease II
p.Glu50Ter Single submitter glycogen storage disease II
p.Glu530fs Single submitter glycogen storage disease II
p.Glu530Ter Single submitter glycogen storage disease II
p.Glu762Ter Single submitter glycogen storage disease II
p.Glu835fs Single submitter glycogen storage disease II
p.Glu852Ter Single submitter glycogen storage disease II
p.Glu866fs Single submitter glycogen storage disease II
p.Glu869fs Single submitter glycogen storage disease II
p.Glu945fs Single submitter glycogen storage disease II
p.Gly453fs Single submitter glycogen storage disease II
p.Gly473fs Single submitter glycogen storage disease II
p.Gly576fs Single submitter glycogen storage disease II
p.Gly651fs Single submitter glycogen storage disease II
p.Gly73fs Single submitter glycogen storage disease II
p.Gly759fs Single submitter glycogen storage disease II
p.Gly802_Gln803insTer Single submitter glycogen storage disease II
p.Gly821fs Single submitter glycogen storage disease II
p.His10fs Single submitter glycogen storage disease II
p.His568Arg Single submitter glycogen storage disease II

Pathogenic/Likely pathogenic 79

c.1195-2A>G Multiple submitters glycogen storage disease II
c.1438-1G>T Multiple submitters GAA-related disorders
c.1755-1G>A Multiple submitters glycogen storage disease II
c.1888+1G>A Multiple submitters glycogen storage disease II
c.2040+2T>G Multiple submitters glycogen storage disease II
c.2041-1G>A Multiple submitters glycogen storage disease II
c.2189+1G>T Multiple submitters glycogen storage disease II
c.2482-2A>G Multiple submitters glycogen storage disease II
c.2646+1G>A Multiple submitters Cardiovascular phenotype
c.2647-7G>A Multiple submitters glycogen storage disease II
c.546+2T>C Multiple submitters glycogen storage disease II
c.692+2T>C Multiple submitters glycogen storage disease II
c.693-1G>C Multiple submitters glycogen storage disease II
c.693-2A>C Multiple submitters glycogen storage disease II
c.858+2T>A Multiple submitters glycogen storage disease II
c.859-2A>G Multiple submitters glycogen storage disease II
c.-32-2A>G Multiple submitters glycogen storage disease II
p.Ala610Val Multiple submitters glycogen storage disease II ⚠
p.Ala694_Met695insTer Multiple submitters glycogen storage disease II
p.Arg190His Multiple submitters Cardiovascular phenotype
p.Arg585Lys Multiple submitters glycogen storage disease II ⚠
p.Arg600Leu Multiple submitters glycogen storage disease II
p.Asn675del Multiple submitters glycogen storage disease II
p.Asp170_Val171insTer Multiple submitters glycogen storage disease II
p.Asp645His Multiple submitters glycogen storage disease II
p.Asp95fs Multiple submitters glycogen storage disease II
p.Cys103Trp Multiple submitters glycogen storage disease II
p.Gln102Ter Multiple submitters glycogen storage disease II
p.Gln121Ter Multiple submitters glycogen storage disease II
p.Gln323Ter Multiple submitters glycogen storage disease II
p.Gln352Ter Multiple submitters glycogen storage disease II
p.Gln715Ter Multiple submitters glycogen storage disease II
p.Gln743Arg Multiple submitters glycogen storage disease II
p.Gln776Ter Multiple submitters glycogen storage disease II
p.Gln803fs Multiple submitters glycogen storage disease II
p.Glu460fs Multiple submitters glycogen storage disease II
p.Glu521fs Multiple submitters glycogen storage disease II
p.Glu521Gln Multiple submitters glycogen storage disease II ⚠
p.Glu537fs Multiple submitters glycogen storage disease II
p.Gly119Ter Multiple submitters glycogen storage disease II
p.Gly293Arg Multiple submitters glycogen storage disease II
p.Gly334Asp Multiple submitters glycogen storage disease II
p.Gly377Arg Multiple submitters glycogen storage disease II ⚠
p.Gly450fs Multiple submitters glycogen storage disease II
p.Gly615Glu Multiple submitters glycogen storage disease II
p.Gly615Val Multiple submitters glycogen storage disease II
p.His308Pro Multiple submitters glycogen storage disease II
p.His708fs Multiple submitters glycogen storage disease II
p.Leu239fs Multiple submitters glycogen storage disease II
p.Leu267fs Multiple submitters glycogen storage disease II
p.Leu405Pro Multiple submitters glycogen storage disease II ⚠
p.Leu476fs Multiple submitters glycogen storage disease II
p.Leu565fs Multiple submitters glycogen storage disease II
p.Leu574Pro Multiple submitters GAA-related disorders
p.Leu699fs Multiple submitters glycogen storage disease II
p.Leu901Gln Multiple submitters glycogen storage disease II
p.Met519Ile Multiple submitters glycogen storage disease II
p.Phe181fs Multiple submitters glycogen storage disease II
p.Phe297fs Multiple submitters glycogen storage disease II
p.Phe362fs Multiple submitters glycogen storage disease II
p.Phe603fs Multiple submitters glycogen storage disease II
p.Pro238fs Multiple submitters glycogen storage disease II
p.Pro457Arg Multiple submitters glycogen storage disease II
p.Pro457Leu Multiple submitters glycogen storage disease II
p.Pro522Thr Multiple submitters glycogen storage disease II
p.Ser332Ter Multiple submitters glycogen storage disease II
p.Ser583Phe Multiple submitters glycogen storage disease II
p.Ser619Arg Multiple submitters glycogen storage disease II
p.Thr893Ter Multiple submitters glycogen storage disease II
p.Trp279Ter Multiple submitters glycogen storage disease II
p.Trp402Ter Multiple submitters glycogen storage disease II
p.Trp481fs Multiple submitters glycogen storage disease II
p.Trp746Arg Multiple submitters glycogen storage disease II
p.Trp746Gly Multiple submitters glycogen storage disease II
p.Tyr407Ter Multiple submitters glycogen storage disease II
p.Val236fs Multiple submitters glycogen storage disease II
p.Val466Phe Multiple submitters glycogen storage disease II
p.Val659fs Multiple submitters glycogen storage disease II
p.Val723Met Multiple submitters glycogen storage disease II

Likely pathogenic 321

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

c.1194+5G>A Expert panel glycogen storage disease II
c.1437+1G>A Expert panel glycogen storage disease II
c.1438-2A>C Expert panel glycogen storage disease II
c.1552-2A>G Expert panel glycogen storage disease II
c.1552-3C>G Expert panel glycogen storage disease II
c.1754+2T>C Expert panel glycogen storage disease II
c.1754+2T>G Expert panel glycogen storage disease II
c.2040+1G>C Expert panel glycogen storage disease II
c.2189+3G>C Expert panel glycogen storage disease II
c.2332-2A>G Expert panel glycogen storage disease II
c.2646+2T>A Expert panel glycogen storage disease II
c.2646+2T>G Expert panel glycogen storage disease II
c.2647-20T>G Expert panel glycogen storage disease II
c.2799+4A>G Expert panel glycogen storage disease II
c.692+5G>T Expert panel glycogen storage disease II
c.-32-1G>C Expert panel glycogen storage disease II
p.Ala150fs Expert panel glycogen storage disease II
p.Ala486Pro Expert panel glycogen storage disease II ⚠
p.Arg154_Thr155del Expert panel glycogen storage disease II
p.Arg154_Thr156del Expert panel glycogen storage disease II
p.Arg224Gln Expert panel glycogen storage disease II ⚠
p.Arg281Trp Expert panel glycogen storage disease II
p.Arg594Pro Expert panel glycogen storage disease II
p.Arg672Gln Expert panel glycogen storage disease II
p.Arg672Leu Expert panel glycogen storage disease II
p.Arg725Pro Expert panel glycogen storage disease II
p.Arg819Pro Expert panel glycogen storage disease II
p.Arg819Trp Expert panel glycogen storage disease II ⚠
p.Asn535fs Expert panel glycogen storage disease II
p.Asn570Lys Expert panel glycogen storage disease II
p.Asn635Asp Expert panel glycogen storage disease II
p.Asp404Gly Expert panel glycogen storage disease II
p.Asp406Asn Expert panel glycogen storage disease II
p.Asp513Asn Expert panel glycogen storage disease II
p.Asp513Gly Expert panel glycogen storage disease II
p.Cys647Ter Expert panel glycogen storage disease II
p.Cys92Ter Expert panel glycogen storage disease II
p.Gln902Ter Expert panel glycogen storage disease II
p.Gln914fs Expert panel glycogen storage disease II
p.Gln914Ter Expert panel glycogen storage disease II
p.Glu721fs Expert panel glycogen storage disease II
p.Gly2Ter Expert panel glycogen storage disease II
p.Gly334Cys Expert panel glycogen storage disease II
p.Gly334Ser Expert panel glycogen storage disease II
p.Gly335Arg Expert panel glycogen storage disease II
p.Gly335Glu Expert panel glycogen storage disease II
p.Gly344fs Expert panel glycogen storage disease II
p.Gly368Asp Expert panel glycogen storage disease II
p.Gly377fs Expert panel glycogen storage disease II
p.Gly549Arg Expert panel glycogen storage disease II ⚠
p.Gly607_His612del Expert panel glycogen storage disease II
p.Gly607Asp Expert panel glycogen storage disease II
p.Gly611Asp Expert panel glycogen storage disease II
p.Gly611Ser Expert panel glycogen storage disease II ⚠
p.Gly862fs Expert panel glycogen storage disease II
p.His295Asn Expert panel glycogen storage disease II ⚠
p.His372Leu Expert panel glycogen storage disease II
p.Ile257fs Expert panel glycogen storage disease II
p.Ile468Phe Expert panel glycogen storage disease II
p.Ile557Ser Expert panel glycogen storage disease II
p.Leu246fs Expert panel glycogen storage disease II
p.Leu269fs Expert panel glycogen storage disease II
p.Leu299Arg Expert panel glycogen storage disease II
p.Leu369Pro Expert panel glycogen storage disease II
p.Leu462Pro Expert panel glycogen storage disease II
p.Lys479Asn Expert panel glycogen storage disease II
p.Met1Leu Expert panel glycogen storage disease II
p.Met318Lys Expert panel glycogen storage disease II
p.Met408Val Expert panel glycogen storage disease II ⚠
p.Met440del Expert panel glycogen storage disease II
p.Met671Arg Expert panel glycogen storage disease II
p.Phe467Ser Expert panel glycogen storage disease II
p.Phe687fs Expert panel glycogen storage disease II
p.Pro266Ser Expert panel glycogen storage disease II ⚠
p.Pro285Arg Expert panel glycogen storage disease II
p.Pro285Ser Expert panel glycogen storage disease II ⚠
p.Pro361Arg Expert panel glycogen storage disease II
p.Pro482Arg Expert panel glycogen storage disease II
p.Pro482Leu Expert panel glycogen storage disease II
p.Pro493Leu Expert panel glycogen storage disease II ⚠
p.Pro493Ser Expert panel glycogen storage disease II ⚠
p.Pro522Ser Expert panel glycogen storage disease II
p.Pro94fs Expert panel glycogen storage disease II
p.Ser132fs Expert panel glycogen storage disease II
p.Ser523fs Expert panel glycogen storage disease II
p.Ser529Val Expert panel glycogen storage disease II
p.Ser599Tyr Expert panel glycogen storage disease II
p.Ser601Trp Expert panel glycogen storage disease II
p.Thr158fs Expert panel glycogen storage disease II
p.Thr614Met Expert panel glycogen storage disease II ⚠
p.Thr653Asn Expert panel glycogen storage disease II
p.Trp126fs Expert panel glycogen storage disease II
p.Trp367Arg Expert panel glycogen storage disease II
p.Trp367fs Expert panel glycogen storage disease II
p.Trp746Cys Expert panel glycogen storage disease II
p.Trp746Ser Expert panel glycogen storage disease II
p.Trp772Arg Expert panel glycogen storage disease II
p.Tyr668Cys Expert panel glycogen storage disease II
p.Tyr873fs Expert panel glycogen storage disease II
p.Val19fs Expert panel glycogen storage disease II
c.1075+1G>A Multiple submitters glycogen storage disease II
c.1075+1G>T Multiple submitters glycogen storage disease II
c.1075+2T>C Multiple submitters glycogen storage disease II
c.1195-2A>C Multiple submitters glycogen storage disease II
c.1636+1G>A Multiple submitters glycogen storage disease II
c.2189+1G>A Multiple submitters glycogen storage disease II
c.2332-1G>C Multiple submitters glycogen storage disease II
c.2482-1G>T Multiple submitters glycogen storage disease II
c.693-1G>A Multiple submitters glycogen storage disease II
c.858+1G>A Multiple submitters glycogen storage disease II
c.859-1G>C Multiple submitters glycogen storage disease II
c.956-5_957del Multiple submitters glycogen storage disease II
p.Arg224Pro Multiple submitters glycogen storage disease II
p.Arg660Gly Multiple submitters glycogen storage disease II
p.Asp419Val Multiple submitters glycogen storage disease II ⚠
p.Asp489Gly Multiple submitters glycogen storage disease II
p.Asp616Tyr Multiple submitters glycogen storage disease II
p.Cys103Arg Multiple submitters glycogen storage disease II
p.Cys533Tyr Multiple submitters glycogen storage disease II
p.Cys558Ser Multiple submitters glycogen storage disease II
p.Gln509Ter Multiple submitters glycogen storage disease II
p.Gly528Val Multiple submitters glycogen storage disease II
p.Gly643Trp Multiple submitters glycogen storage disease II
p.Gly648Asp Multiple submitters glycogen storage disease II
p.Gly648Cys Multiple submitters glycogen storage disease II
p.His612Gln Multiple submitters glycogen storage disease II
p.His674Gln Multiple submitters glycogen storage disease II
p.Leu248Pro Multiple submitters glycogen storage disease II
p.Leu431_Gln433del Multiple submitters glycogen storage disease II
p.Lys479= Multiple submitters glycogen storage disease II
p.Pro595Leu Multiple submitters glycogen storage disease II
p.Pro768Arg Multiple submitters glycogen storage disease II
p.Pro768Leu Multiple submitters glycogen storage disease II
p.Ser654Ter Multiple submitters glycogen storage disease II
p.Thr234Lys Multiple submitters glycogen storage disease II
p.Val466Gly Multiple submitters glycogen storage disease II
c.1075+2T>A Single submitter glycogen storage disease II
c.1194+2T>G Single submitter glycogen storage disease II
c.1195-15_1201del Single submitter glycogen storage disease II
c.1327-2A>C Single submitter glycogen storage disease II
c.1327-58_1352del Single submitter glycogen storage disease II
c.1438-1G>A Single submitter glycogen storage disease II
c.1637-2del Single submitter glycogen storage disease II
c.1754+1_1754+7del Single submitter glycogen storage disease II
c.2041-2A>C Single submitter glycogen storage disease II
c.2189+2T>A Single submitter glycogen storage disease II
c.2189+2T>C Single submitter glycogen storage disease II
c.2331+1G>C Single submitter glycogen storage disease II
c.2331+2_2331+3del Single submitter glycogen storage disease II
c.2332-1G>A Single submitter glycogen storage disease II
c.2481+1G>T Single submitter glycogen storage disease II
c.2483del Single submitter glycogen storage disease II
c.2799+2C>G Single submitter glycogen storage disease II
c.955+1del Single submitter glycogen storage disease II
c.955+2T>C Single submitter GAA-related disorders
c.956-2_956del Single submitter glycogen storage disease II
c.-32-3C>G Single submitter glycogen storage disease II
p.Ala555Val Single submitter glycogen storage disease II ⚠
p.Ala625_Ser627del Single submitter glycogen storage disease II
p.Ala644fs Single submitter glycogen storage disease II
p.Ala719fs Single submitter
p.Ala844_Leu847del Single submitter glycogen storage disease II
p.Ala880Asp Single submitter glycogen storage disease II
p.Arg106Gly Single submitter glycogen storage disease II
p.Arg224Leu Single submitter glycogen storage disease II ⚠
p.Arg281fs Single submitter glycogen storage disease II
p.Arg281Leu Single submitter glycogen storage disease II
p.Arg281Pro Single submitter glycogen storage disease II
p.Arg375Ser Single submitter glycogen storage disease II
p.Arg411fs Single submitter glycogen storage disease II
p.Arg585Met Single submitter glycogen storage disease II ⚠
p.Arg594Ser Single submitter glycogen storage disease II
p.Arg600fs Single submitter glycogen storage disease II
p.Arg600Gly Single submitter glycogen storage disease II
p.Arg672fs Single submitter glycogen storage disease II
p.Arg702_Tyr703insTer Single submitter glycogen storage disease II
p.Arg725Leu Single submitter glycogen storage disease II
p.Arg881fs Single submitter glycogen storage disease II
p.Arg891fs Single submitter glycogen storage disease II
p.Arg89Ser Single submitter glycogen storage disease II
p.Asn316Ser Single submitter glycogen storage disease II ⚠
p.Asn390fs Single submitter glycogen storage disease II
p.Asn470fs Single submitter glycogen storage disease II
p.Asn570Ser Single submitter glycogen storage disease II ⚠
p.Asn573His Single submitter glycogen storage disease II
p.Asn635Lys Single submitter glycogen storage disease II
p.Asn652fs Single submitter glycogen storage disease II
p.Asn882fs Single submitter glycogen storage disease II
p.Asn925fs Single submitter glycogen storage disease II
p.Asp163_Ile164insTer Single submitter glycogen storage disease II
p.Asp227fs Single submitter glycogen storage disease II
p.Asp243Asn Single submitter ⚠
p.Asp243Glu Single submitter glycogen storage disease II ⚠
p.Asp406_Tyr407insTer Single submitter glycogen storage disease II
p.Asp459Val Single submitter glycogen storage disease II
p.Asp489Tyr Single submitter glycogen storage disease II
p.Asp513Ala Single submitter glycogen storage disease II
p.Asp616His Single submitter glycogen storage disease II
p.Asp645Gly Single submitter glycogen storage disease II
p.Cys103Tyr Single submitter glycogen storage disease II
p.Cys127Phe Single submitter glycogen storage disease II
p.Cys374Phe Single submitter glycogen storage disease II
p.Cys374Tyr Single submitter glycogen storage disease II
p.Cys938fs Single submitter glycogen storage disease II
p.Gln115fs Single submitter glycogen storage disease II
p.Gln124fs Single submitter glycogen storage disease II
p.Gln124Ter Single submitter glycogen storage disease II
p.Gln401Arg Single submitter glycogen storage disease II
p.Gln682fs Single submitter glycogen storage disease II
p.Gln69Ter Single submitter glycogen storage disease II
p.Gln743His Single submitter glycogen storage disease II
p.Gln743Pro Single submitter glycogen storage disease II
p.Glu101Ter Single submitter
p.Glu302Ter Single submitter glycogen storage disease II
p.Glu460Ter Single submitter glycogen storage disease II
p.Glu521Asp Single submitter glycogen storage disease II ⚠
p.Glu656fs Single submitter glycogen storage disease II
p.Glu683Ter Single submitter glycogen storage disease II
p.Glu801fs Single submitter glycogen storage disease II
p.Gly219Glu Single submitter glycogen storage disease II
p.Gly219Val Single submitter glycogen storage disease II
p.Gly293fs Single submitter glycogen storage disease II
p.Gly293Trp Single submitter glycogen storage disease II
p.Gly309Trp Single submitter glycogen storage disease II
p.Gly335Trp Single submitter glycogen storage disease II
p.Gly483Trp Single submitter glycogen storage disease II
p.Gly514fs Single submitter
p.Gly546Arg Single submitter glycogen storage disease II ⚠
p.Gly546Glu Single submitter glycogen storage disease II ⚠
p.Gly549Glu Single submitter glycogen storage disease II ⚠
p.Gly576Arg Single submitter glycogen storage disease II
p.Gly605fs Single submitter glycogen storage disease II
p.Gly607Cys Single submitter glycogen storage disease II
p.Gly607Val Single submitter glycogen storage disease II
p.Gly648Val Single submitter glycogen storage disease II
p.Gly747Glu Single submitter glycogen storage disease II
p.His199fs Single submitter glycogen storage disease II
p.His29fs Single submitter glycogen storage disease II
p.His308Asp Single submitter glycogen storage disease II
p.His507fs Single submitter
p.His572Asp Single submitter glycogen storage disease II
p.His572Tyr Single submitter glycogen storage disease II
p.His612_Asp616delinsArgGlyIle Single submitter glycogen storage disease II
p.His674Asp Single submitter glycogen storage disease II
p.His799fs Single submitter glycogen storage disease II
p.Ile752del Single submitter glycogen storage disease II
p.Leu312fs Single submitter glycogen storage disease II
p.Leu373fs Single submitter glycogen storage disease II
p.Leu552Phe Single submitter glycogen storage disease II
p.Leu657fs Single submitter glycogen storage disease II
p.Leu712Pro Single submitter glycogen storage disease II
p.Leu775fs Single submitter glycogen storage disease II
p.Leu783fs Single submitter glycogen storage disease II
p.Leu826fs Single submitter
p.Leu901fs Single submitter glycogen storage disease II
p.Lys697fs Single submitter glycogen storage disease II
p.Lys849Ter Single submitter glycogen storage disease II
p.Met1Ile Single submitter glycogen storage disease II
p.Met408Leu Single submitter glycogen storage disease II
p.Met695fs Single submitter glycogen storage disease II
p.Phe371fs Single submitter glycogen storage disease II
p.Phe487Ser Single submitter glycogen storage disease II
p.Phe649fs Single submitter
p.Pro130fs Single submitter glycogen storage disease II
p.Pro347Arg Single submitter glycogen storage disease II
p.Pro457Ser Single submitter glycogen storage disease II
p.Pro511His Single submitter glycogen storage disease II ⚠
p.Pro522Arg Single submitter glycogen storage disease II
p.Pro522Leu Single submitter glycogen storage disease II ⚠
p.Pro541fs Single submitter glycogen storage disease II
p.Pro541Leu Single submitter glycogen storage disease II
p.Pro545Ser Single submitter glycogen storage disease II ⚠
p.Pro779fs Single submitter glycogen storage disease II
p.Pro787fs Single submitter GAA-related disorders
p.Pro788fs Single submitter glycogen storage disease II
p.Pro790fs Single submitter
p.Ser306Ter Single submitter glycogen storage disease II
p.Ser332fs Single submitter glycogen storage disease II
p.Ser45fs Single submitter glycogen storage disease II
p.Ser529Ala Single submitter glycogen storage disease II ⚠
p.Ser566Phe Single submitter glycogen storage disease II
p.Ser566Pro Single submitter glycogen storage disease II
p.Ser619Gly Single submitter glycogen storage disease II ⚠
p.Ser736fs Single submitter GAA-related disorders
p.Thr155fs Single submitter
p.Thr156fs Single submitter glycogen storage disease II
p.Thr166_Leu167insTer Single submitter glycogen storage disease II
p.Thr234Arg Single submitter glycogen storage disease II
p.Thr277fs Single submitter glycogen storage disease II
p.Thr415fs Single submitter glycogen storage disease II
p.Thr653Ile Single submitter glycogen storage disease II
p.Thr711Ser Single submitter glycogen storage disease II ⚠
p.Thr99fs Single submitter glycogen storage disease II
p.Trp273Ter Single submitter glycogen storage disease II
p.Trp330Cys Single submitter glycogen storage disease II
p.Trp330Gly Single submitter glycogen storage disease II
p.Trp367Gly Single submitter glycogen storage disease II
p.Trp498fs Single submitter glycogen storage disease II
p.Trp613Cys Single submitter glycogen storage disease II
p.Trp613Gly Single submitter glycogen storage disease II

Conflicting classifications of pathogenicity 221

c.1075+12T>G Single submitter glycogen storage disease II
c.1075+9T>C Single submitter glycogen storage disease II
c.1076-15G>A Single submitter glycogen storage disease II
c.1076-15G>C Single submitter glycogen storage disease II
c.1195-15G>A Single submitter glycogen storage disease II
c.1195-4G>T Single submitter glycogen storage disease II
c.1195-8G>A Single submitter glycogen storage disease II
c.1438-15_1438-1del Single submitter glycogen storage disease II
c.1438-7_1438-5del Single submitter glycogen storage disease II
c.1438-9G>A Single submitter glycogen storage disease II
c.1552-14_1552-1del Single submitter glycogen storage disease II
c.1552-14C>T Single submitter glycogen storage disease II
c.1888+10_1888+11insC Single submitter glycogen storage disease II
c.1889-5C>T Single submitter glycogen storage disease II
c.2040+19_2040+20inv Single submitter glycogen storage disease II
c.2041-4G>T Single submitter glycogen storage disease II
c.2190-4G>A Single submitter Cardiovascular phenotype
c.2331+4A>G Single submitter glycogen storage disease II
c.2331+84C>G Single submitter
c.2332-10C>G Single submitter glycogen storage disease II
c.2332-16C>T Single submitter glycogen storage disease II
c.2481+15C>T Single submitter glycogen storage disease II
c.2481+1G>A Single submitter glycogen storage disease II
c.2482-5T>C Single submitter glycogen storage disease II
c.2647-23del Single submitter glycogen storage disease II
c.2647-2A>G Single submitter glycogen storage disease II
c.2647-6G>A Single submitter glycogen storage disease II
c.2800-11C>G Single submitter glycogen storage disease II
c.2800-15CT[3] Single submitter glycogen storage disease II
c.2800-1G>A Single submitter glycogen storage disease II
c.2800-9C>G Single submitter glycogen storage disease II
c.546+8G>A Single submitter glycogen storage disease II
c.692+9T>C Single submitter glycogen storage disease II
c.693-4G>T Single submitter Cardiovascular phenotype
c.693-5C>T Single submitter glycogen storage disease II
c.858+10C>T Single submitter glycogen storage disease II
c.858+7_858+8insAGTGGGC Single submitter glycogen storage disease II
c.859-19C>A Single submitter glycogen storage disease II
c.955+14C>A Single submitter glycogen storage disease II
c.-116C>T Single submitter glycogen storage disease II
c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC Single submitter glycogen storage disease II
c.*64G>T Single submitter glycogen storage disease II
p.Ala204Thr Single submitter glycogen storage disease II ⚠
p.Ala289Val Single submitter Cardiovascular phenotype ⚠
p.Ala452= Single submitter Cardiovascular phenotype
p.Ala486Ser Single submitter glycogen storage disease II ⚠
p.Ala555Pro Single submitter glycogen storage disease II ⚠
p.Ala644Ser Single submitter glycogen storage disease II ⚠
p.Ala719Glu Single submitter Cardiovascular phenotype ⚠
p.Ala719Ser Single submitter glycogen storage disease II ⚠
p.Ala724Asp Single submitter glycogen storage disease II ⚠
p.Ala749Ser Single submitter glycogen storage disease II ⚠
p.Ala820del Single submitter glycogen storage disease II
p.Ala93Thr Single submitter glycogen storage disease II ⚠
p.Arg106His Single submitter glycogen storage disease II ⚠
p.Arg11Gln Single submitter glycogen storage disease II ⚠
p.Arg154Cys Single submitter glycogen storage disease II ⚠
p.Arg154Pro Single submitter glycogen storage disease II ⚠
p.Arg168Gln Single submitter glycogen storage disease II ⚠
p.Arg168Pro Single submitter glycogen storage disease II ⚠
p.Arg178= Single submitter glycogen storage disease II
p.Arg178Cys Single submitter glycogen storage disease II ⚠
p.Arg178His Single submitter Cardiovascular phenotype ⚠
p.Arg190Cys Single submitter glycogen storage disease II ⚠
p.Arg190Leu Single submitter glycogen storage disease II ⚠
p.Arg229= Single submitter Cardiovascular phenotype
p.Arg331= Single submitter glycogen storage disease II
p.Arg375His Single submitter glycogen storage disease II ⚠
p.Arg40Gln Single submitter glycogen storage disease II ⚠
p.Arg411Gln Single submitter glycogen storage disease II ⚠
p.Arg422Gln Single submitter glycogen storage disease II ⚠
p.Arg437Ser Single submitter glycogen storage disease II ⚠
p.Arg600Pro Single submitter glycogen storage disease II ⚠
p.Arg608Gln Single submitter glycogen storage disease II ⚠
p.Arg66Gln Single submitter Cardiovascular phenotype ⚠
p.Arg672Gly Single submitter glycogen storage disease II ⚠
p.Arg74His Single submitter glycogen storage disease II ⚠
p.Arg794His Single submitter Cardiovascular phenotype ⚠
p.Arg819Gln Single submitter glycogen storage disease II ⚠
p.Arg854Gln Single submitter Cardiovascular phenotype ⚠
p.Arg870Gln Single submitter glycogen storage disease II ⚠
p.Arg891Cys Single submitter glycogen storage disease II ⚠
p.Arg891His Single submitter glycogen storage disease II ⚠
p.Arg89Leu Single submitter glycogen storage disease II ⚠
p.Asn177= Single submitter glycogen storage disease II
p.Asn470= Single submitter Cardiovascular phenotype
p.Asn520= Single submitter Cardiovascular phenotype
p.Asn520Ile Single submitter glycogen storage disease II ⚠
p.Asn520Lys Single submitter glycogen storage disease II ⚠
p.Asn524Thr Single submitter glycogen storage disease II
p.Asn815= Single submitter Cardiovascular phenotype
p.Asp282His Single submitter glycogen storage disease II ⚠
p.Asp459His Single submitter glycogen storage disease II ⚠
p.Asp501_Glu505del Single submitter glycogen storage disease II
p.Asp616= Single submitter Cardiovascular phenotype
p.Asp616Asn Single submitter glycogen storage disease II ⚠
p.Asp616Glu Single submitter glycogen storage disease II ⚠
p.Asp774Asn Single submitter glycogen storage disease II ⚠
p.Asp812Asn Single submitter glycogen storage disease II ⚠
p.Asp83= Single submitter Cardiovascular phenotype
p.Cys108Tyr Single submitter glycogen storage disease II ⚠
p.Cys533= Single submitter Cardiovascular phenotype
p.Cys558Tyr Single submitter glycogen storage disease II ⚠
p.Cys647Tyr Single submitter glycogen storage disease II ⚠
p.Gln121Arg Single submitter long QT syndrome ⚠
p.Gln244His Single submitter glycogen storage disease II ⚠
p.Gln682Arg Single submitter glycogen storage disease II ⚠
p.Glu302= Single submitter glycogen storage disease II
p.Glu471Lys Single submitter glycogen storage disease II ⚠
p.Glu539Lys Single submitter glycogen storage disease II ⚠
p.Gly305= Single submitter Cardiovascular phenotype
p.Gly305Arg Single submitter glycogen storage disease II ⚠
p.Gly377Ser Single submitter glycogen storage disease II ⚠
p.Gly478= Single submitter Cardiovascular phenotype
p.Gly483Val Single submitter glycogen storage disease II ⚠
p.Gly528Ala Single submitter glycogen storage disease II ⚠
p.Gly532Ser Single submitter GAA-related disorders ⚠
p.Gly546= Single submitter glycogen storage disease II
p.Gly576Asp Single submitter glycogen storage disease II ⚠
p.Gly638Glu Single submitter glycogen storage disease II ⚠
p.Gly643Ala Single submitter glycogen storage disease II ⚠
p.Gly765Asp Single submitter glycogen storage disease II ⚠
p.Gly908fs Single submitter glycogen storage disease II
p.His308Tyr Single submitter glycogen storage disease II ⚠
p.His372Tyr Single submitter glycogen storage disease II ⚠
p.His568Gln Single submitter glycogen storage disease II ⚠
p.His568Leu Single submitter glycogen storage disease II ⚠
p.His612Tyr Single submitter glycogen storage disease II ⚠
p.His674Tyr Single submitter glycogen storage disease II ⚠
p.His708Tyr Single submitter glycogen storage disease II ⚠
p.His717= Single submitter glycogen storage disease II
p.Ile383Val Single submitter Cardiovascular phenotype ⚠
p.Ile581= Single submitter Cardiovascular phenotype
p.Ile798Val Single submitter glycogen storage disease II ⚠
p.Leu12= Single submitter Cardiovascular phenotype
p.Leu278= Single submitter glycogen storage disease II
p.Leu312Arg Single submitter glycogen storage disease II ⚠
p.Leu369Gln Single submitter glycogen storage disease II ⚠
p.Leu373Arg Single submitter glycogen storage disease II ⚠
p.Leu398= Single submitter Cardiovascular phenotype
p.Leu398Pro Single submitter glycogen storage disease II ⚠
p.Leu574Phe Single submitter Cardiovascular phenotype ⚠
p.Leu637Met Single submitter glycogen storage disease II ⚠
p.Leu699Pro Single submitter glycogen storage disease II ⚠
p.Leu751= Single submitter Cardiovascular phenotype
p.Leu775Met Single submitter glycogen storage disease II ⚠
p.Leu935Pro Single submitter glycogen storage disease II ⚠
p.Lys903del Single submitter glycogen storage disease II
p.Lys933= Single submitter glycogen storage disease II
p.Met122Val Single submitter glycogen storage disease II ⚠
p.Met318Leu Single submitter glycogen storage disease II ⚠
p.Met408Thr Single submitter glycogen storage disease II ⚠
p.Met427Thr Single submitter glycogen storage disease II ⚠
p.Met519Val Single submitter glycogen storage disease II ⚠
p.Phe512= Single submitter Cardiovascular phenotype
p.Phe649= Single submitter Cardiovascular phenotype
p.Pro131= Single submitter glycogen storage disease II
p.Pro205Leu Single submitter glycogen storage disease II ⚠
p.Pro217Leu Single submitter glycogen storage disease II ⚠
p.Pro444Arg Single submitter glycogen storage disease II ⚠
p.Pro457His Single submitter glycogen storage disease II ⚠
p.Pro475= Single submitter Cardiovascular phenotype
p.Pro488Leu Single submitter glycogen storage disease II ⚠
p.Pro6= Single submitter glycogen storage disease II
p.Pro669Leu Single submitter glycogen storage disease II ⚠
p.Pro684Arg Single submitter glycogen storage disease II ⚠
p.Pro684Leu Single submitter glycogen storage disease II ⚠
p.Pro72= Single submitter glycogen storage disease II
p.Pro86Arg Single submitter Cardiovascular phenotype ⚠
p.Pro913= Single submitter Cardiovascular phenotype
p.Pro913Arg Single submitter glycogen storage disease II ⚠
p.Ser210= Single submitter glycogen storage disease II
p.Ser251Leu Single submitter glycogen storage disease II ⚠
p.Ser254Leu Single submitter glycogen storage disease II ⚠
p.Ser265Asn Single submitter glycogen storage disease II ⚠
p.Ser349= Single submitter Cardiovascular phenotype
p.Ser410Phe Single submitter glycogen storage disease II ⚠
p.Ser46= Single submitter glycogen storage disease II
p.Ser599Phe Single submitter glycogen storage disease II ⚠
p.Ser620= Single submitter glycogen storage disease II
p.Ser626Ala Single submitter Cardiovascular phenotype ⚠
p.Ser688= Single submitter Cardiovascular phenotype
p.Ser736Asn Single submitter Cardiovascular phenotype ⚠
p.Ser800Ile Single submitter glycogen storage disease II ⚠
p.Thr234= Single submitter Cardiovascular phenotype
p.Thr234Ala Single submitter glycogen storage disease II ⚠
p.Thr235= Single submitter Cardiovascular phenotype
p.Thr23Ala Single submitter glycogen storage disease II ⚠
p.Thr250= Single submitter Cardiovascular phenotype
p.Thr286= Single submitter glycogen storage disease II
p.Thr381= Single submitter Cardiovascular phenotype
p.Thr494= Single submitter Cardiovascular phenotype
p.Thr602Ala Single submitter glycogen storage disease II ⚠
p.Thr711Ala Single submitter glycogen storage disease II ⚠
p.Thr711Arg Single submitter glycogen storage disease II ⚠
p.Thr711Pro Single submitter glycogen storage disease II ⚠
p.Thr737Asn Single submitter glycogen storage disease II
p.Thr739Ser Single submitter Cardiovascular phenotype ⚠
p.Trp621Arg Single submitter glycogen storage disease II ⚠
p.Tyr148= Single submitter Cardiovascular phenotype
p.Tyr292= Single submitter Cardiovascular phenotype
p.Tyr292His Single submitter glycogen storage disease II ⚠
p.Tyr407Cys Single submitter glycogen storage disease II ⚠
p.Tyr407His Single submitter glycogen storage disease II ⚠
p.Tyr455Cys Single submitter glycogen storage disease II ⚠
p.Tyr575= Single submitter Cardiovascular phenotype
p.Tyr703= Single submitter Cardiovascular phenotype
p.Tyr766Asn Single submitter glycogen storage disease II ⚠
p.Tyr766His Single submitter glycogen storage disease II ⚠
p.Tyr773= Single submitter Cardiovascular phenotype
p.Val351= Single submitter glycogen storage disease II
p.Val388del Single submitter glycogen storage disease II
p.Val617= Single submitter glycogen storage disease II
p.Val628= Single submitter glycogen storage disease II
p.Val646Ile Single submitter glycogen storage disease II ⚠
p.Val718= Single submitter glycogen storage disease II
p.Val84Ile Single submitter glycogen storage disease II ⚠
p.Val886Met Single submitter glycogen storage disease II ⚠
p.Val904= Single submitter glycogen storage disease II
p.Val906Ile Single submitter glycogen storage disease II ⚠
p.Val949Asp Single submitter glycogen storage disease II ⚠

Benign 139

c.547-4C>G Expert panel glycogen storage disease II
c.858+17_858+23del Expert panel glycogen storage disease II
c.858+7_858+8insAGCGGGC Expert panel glycogen storage disease II
p.Ala284= Expert panel glycogen storage disease II
p.Arg223His Expert panel glycogen storage disease II
p.Cys108= Expert panel glycogen storage disease II
p.Gln401= Expert panel glycogen storage disease II
p.Gln429Arg Expert panel glycogen storage disease II
p.Ser800= Expert panel glycogen storage disease II
p.Thr927Ile Expert panel glycogen storage disease II
p.Val780Ile Expert panel glycogen storage disease II
p.Val816Ile Expert panel glycogen storage disease II
p.Val890Leu Expert panel glycogen storage disease II
c.1326+132G>A Multiple submitters glycogen storage disease II
c.1327-118A>G Multiple submitters glycogen storage disease II
c.1327-179G>A Multiple submitters glycogen storage disease II
c.1327-269A>G Multiple submitters glycogen storage disease II
c.1327-321del Multiple submitters glycogen storage disease II
c.1438-108G>A Multiple submitters glycogen storage disease II
c.1438-19G>C Multiple submitters glycogen storage disease II
c.1438-220A>G Multiple submitters glycogen storage disease II
c.1551+42G>A Multiple submitters glycogen storage disease II
c.1551+49C>A Multiple submitters glycogen storage disease II
c.1636+117del Multiple submitters glycogen storage disease II
c.1636+118G>T Multiple submitters glycogen storage disease II
c.1636+210G>A Multiple submitters glycogen storage disease II
c.1636+269C>T Multiple submitters glycogen storage disease II
c.1636+284G>C Multiple submitters glycogen storage disease II
c.1636+43G>T Multiple submitters glycogen storage disease II
c.1637-185A>G Multiple submitters glycogen storage disease II
c.1754+104C>G Multiple submitters glycogen storage disease II
c.1754+12G>A Multiple submitters glycogen storage disease II
c.1754+144C>T Multiple submitters glycogen storage disease II
c.1888+21G>A Multiple submitters glycogen storage disease II
c.2040+20A>G Multiple submitters glycogen storage disease II
c.2040+66C>T Multiple submitters glycogen storage disease II
c.2040+69A>G Multiple submitters glycogen storage disease II
c.2041-64G>A Multiple submitters glycogen storage disease II
c.2189+263G>A Multiple submitters glycogen storage disease II
c.2189+95C>T Multiple submitters glycogen storage disease II
c.2190-336C>T Multiple submitters glycogen storage disease II
c.2331+20G>A Multiple submitters glycogen storage disease II
c.2332-198A>T Multiple submitters glycogen storage disease II
c.2800-227C>T Multiple submitters glycogen storage disease II
c.546+293G>A Multiple submitters glycogen storage disease II
c.547-238T>C Multiple submitters glycogen storage disease II
c.547-243C>G Multiple submitters glycogen storage disease II
c.547-39T>G Multiple submitters glycogen storage disease II
c.547-67C>G Multiple submitters glycogen storage disease II
c.692+144A>G Multiple submitters glycogen storage disease II
c.692+38C>T Multiple submitters glycogen storage disease II
c.693-216T>C Multiple submitters glycogen storage disease II
c.693-49C>T Multiple submitters glycogen storage disease II
c.693-78C>T Multiple submitters glycogen storage disease II
c.858+30T>C Multiple submitters glycogen storage disease II
c.955+12G>A Multiple submitters glycogen storage disease II
c.955+155C>A Multiple submitters glycogen storage disease II
c.956-107G>A Multiple submitters glycogen storage disease II
c.956-84C>T Multiple submitters
c.-178G>A Multiple submitters glycogen storage disease II
c.-33+219G>C Multiple submitters glycogen storage disease II
c.-338C>G Multiple submitters glycogen storage disease II
c.*139dup Multiple submitters glycogen storage disease II
c.*223C>T Multiple submitters glycogen storage disease II
c.*3G>A Multiple submitters glycogen storage disease II
c.*419G>T Multiple submitters glycogen storage disease II
c.*91G>A Multiple submitters glycogen storage disease II
p.Arg527= Multiple submitters glycogen storage disease II
p.His199Arg Multiple submitters Cardiovascular phenotype
p.Thr711= Multiple submitters glycogen storage disease II
p.Tyr458= Multiple submitters glycogen storage disease II
c.1194+11del Single submitter glycogen storage disease II
c.1326+12del Single submitter glycogen storage disease II
c.1326+460G>A Single submitter glycogen storage disease II
c.1327-229_1327-224del Single submitter
c.1327-315del Single submitter
c.1327-356G>T Single submitter glycogen storage disease II
c.1327-514G>A Single submitter glycogen storage disease II
c.1437+70T>A Single submitter
c.1551+15del Single submitter glycogen storage disease II
c.1636+117C>T Single submitter glycogen storage disease II
c.1636+205C>T Single submitter glycogen storage disease II
c.1636+390A>G Single submitter glycogen storage disease II
c.1636+404A>G Single submitter glycogen storage disease II
c.1637-12dup Single submitter glycogen storage disease II
c.1754+100C>T Single submitter glycogen storage disease II
c.1754+21dup Single submitter glycogen storage disease II
c.2041-14del Single submitter glycogen storage disease II
c.2041-14dup Single submitter glycogen storage disease II
c.2189+1153A>G Single submitter glycogen storage disease II
c.2189+1201C>A Single submitter glycogen storage disease II
c.2189+1263A>G Single submitter glycogen storage disease II
c.2189+1290A>G Single submitter glycogen storage disease II
c.2189+1600C>T Single submitter glycogen storage disease II
c.2189+510T>G Single submitter glycogen storage disease II
c.2189+607G>A Single submitter glycogen storage disease II
c.2189+616T>C Single submitter glycogen storage disease II
c.2189+723G>A Single submitter glycogen storage disease II
c.2189+729A>G Single submitter glycogen storage disease II
c.2189+859A>G Single submitter glycogen storage disease II
c.2189+884G>A Single submitter glycogen storage disease II
c.2190-1005A>G Single submitter glycogen storage disease II
c.2190-1139A>G Single submitter glycogen storage disease II
c.2190-1463G>A Single submitter glycogen storage disease II
c.2190-1531G>A Single submitter glycogen storage disease II
c.2190-444A>G Single submitter glycogen storage disease II
c.2190-490G>A Single submitter glycogen storage disease II
c.2190-536G>A Single submitter glycogen storage disease II
c.2190-647G>A Single submitter glycogen storage disease II
c.2190-686G>A Single submitter glycogen storage disease II
c.2331+48C>A Single submitter glycogen storage disease II
c.2482-132C>T Single submitter glycogen storage disease II
c.692+674G>C Single submitter glycogen storage disease II
c.692+751T>C Single submitter glycogen storage disease II
c.693-413A>G Single submitter glycogen storage disease II
c.693-414C>G Single submitter glycogen storage disease II
c.693-434C>A Single submitter glycogen storage disease II
c.693-491G>A Single submitter glycogen storage disease II
c.693-559C>T Single submitter glycogen storage disease II
c.693-585T>C Single submitter glycogen storage disease II
c.693-586G>A Single submitter glycogen storage disease II
c.-32-1124C>T Single submitter glycogen storage disease II
c.-32-1298G>C Single submitter glycogen storage disease II
c.-32-462G>A Single submitter glycogen storage disease II
c.-32-494C>G Single submitter glycogen storage disease II
c.-32-521G>T Single submitter glycogen storage disease II
c.-32-640C>T Single submitter glycogen storage disease II
c.-32-721G>C Single submitter glycogen storage disease II
c.-32-793C>G Single submitter glycogen storage disease II
c.-32-884T>C Single submitter glycogen storage disease II
c.-33+1104A>G Single submitter glycogen storage disease II
c.-33+1172G>A Single submitter glycogen storage disease II
c.-33+1190G>T Single submitter glycogen storage disease II
c.-33+1309T>C Single submitter glycogen storage disease II
c.-33+316C>A Single submitter glycogen storage disease II
c.-33+317C>T Single submitter glycogen storage disease II
c.-33+671A>C Single submitter glycogen storage disease II
c.-33+757G>A Single submitter glycogen storage disease II
c.-33+903A>C Single submitter glycogen storage disease II

Benign/Likely benign 33

c.1075+13C>T Multiple submitters glycogen storage disease II
c.1327-18A>G Multiple submitters glycogen storage disease II
c.1755-186A>G Multiple submitters glycogen storage disease II
c.1755-18T>C Multiple submitters glycogen storage disease II
c.2331+151C>T Multiple submitters glycogen storage disease II
c.2331+24T>C Multiple submitters glycogen storage disease II
c.2332-12A>T Multiple submitters glycogen storage disease II
c.2481+16G>A Multiple submitters glycogen storage disease II
c.2646+39G>A Multiple submitters glycogen storage disease II
c.2647-71G>C Multiple submitters glycogen storage disease II
c.2647-8C>T Multiple submitters glycogen storage disease II
c.2799+19G>A Multiple submitters glycogen storage disease II
c.546+18G>A Multiple submitters glycogen storage disease II
c.692+17G>C Multiple submitters glycogen storage disease II
c.858+6GCGGCGG[3] Multiple submitters glycogen storage disease II
c.858+7_858+8insAGCAGGC Multiple submitters glycogen storage disease II
c.858+8G>A Multiple submitters glycogen storage disease II
c.859-21G>A Multiple submitters
c.-260G>C Multiple submitters glycogen storage disease II
c.-2C>T Multiple submitters Cardiovascular phenotype
c.-75C>G Multiple submitters primary ciliary dyskinesia 15
p.Ala610= Multiple submitters Cardiovascular phenotype
p.Arg106= Multiple submitters Cardiovascular phenotype
p.Asp459= Multiple submitters Cardiovascular phenotype
p.Asp860= Multiple submitters Cardiovascular phenotype
p.Gln429Glu Multiple submitters dilated cardiomyopathy
p.Gly123Glu Multiple submitters dilated cardiomyopathy
p.Leu117= Multiple submitters Cardiovascular phenotype
p.Pro482= Multiple submitters Cardiovascular phenotype
p.Ser306Leu Multiple submitters Cardiovascular phenotype
p.Ser448Thr Multiple submitters dilated cardiomyopathy
p.Thr149= Multiple submitters Cardiovascular phenotype
p.Val222Met Multiple submitters glycogen storage disease II ⚠

Likely benign 1010

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

c.1437+19G>A Expert panel glycogen storage disease II
c.1552-13G>A Expert panel glycogen storage disease II
p.Asp531= Expert panel glycogen storage disease II
p.Leu226Val Expert panel glycogen storage disease II
p.Pro444= Expert panel glycogen storage disease II
p.Pro451Arg Expert panel glycogen storage disease II ⚠
p.Pro640= Expert panel glycogen storage disease II
p.Val220Leu Expert panel glycogen storage disease II
p.Val548Phe Expert panel glycogen storage disease II
p.Val718Ile Expert panel glycogen storage disease II
c.1075+20C>T Multiple submitters glycogen storage disease II
c.1076-12G>A Multiple submitters glycogen storage disease II
c.1194+17G>T Multiple submitters glycogen storage disease II
c.1194+19dup Multiple submitters glycogen storage disease II
c.1195-15G>C Multiple submitters glycogen storage disease II
c.1437+15C>T Multiple submitters glycogen storage disease II
c.1437+20G>A Multiple submitters glycogen storage disease II
c.1437+8G>A Multiple submitters glycogen storage disease II
c.1438-12C>G Multiple submitters glycogen storage disease II
c.1438-32G>A Multiple submitters glycogen storage disease II
c.1551+11C>T Multiple submitters glycogen storage disease II
c.1551+12C>A Multiple submitters glycogen storage disease II
c.1636+10C>T Multiple submitters glycogen storage disease II
c.1636+118G>A Multiple submitters
c.1636+8C>T Multiple submitters glycogen storage disease II
c.1637-10C>T Multiple submitters glycogen storage disease II
c.1637-11G>A Multiple submitters glycogen storage disease II
c.1637-12C>T Multiple submitters glycogen storage disease II
c.1754+11C>T Multiple submitters glycogen storage disease II
c.1754+16C>T Multiple submitters glycogen storage disease II
c.1754+17G>A Multiple submitters glycogen storage disease II
c.1755-20G>A Multiple submitters glycogen storage disease II
c.1755-7A>G Multiple submitters glycogen storage disease II
c.1889-20G>A Multiple submitters glycogen storage disease II
c.2040+16C>T Multiple submitters glycogen storage disease II
c.2040+17G>A Multiple submitters glycogen storage disease II
c.2040+19C>T Multiple submitters
c.2041-13G>A Multiple submitters glycogen storage disease II
c.2041-17C>A Multiple submitters glycogen storage disease II
c.2041-17C>T Multiple submitters glycogen storage disease II
c.2189+10C>T Multiple submitters glycogen storage disease II
c.2190-53C>G Multiple submitters glycogen storage disease II
c.2332-40C>G Multiple submitters glycogen storage disease II
c.2481+8G>T Multiple submitters glycogen storage disease II
c.2482-18G>A Multiple submitters glycogen storage disease II
c.2646+55G>T Multiple submitters
c.2647-6G>T Multiple submitters glycogen storage disease II
c.2800-10T>C Multiple submitters glycogen storage disease II
c.546+176C>T Multiple submitters
c.546+3GGGCA[3] Multiple submitters glycogen storage disease II
c.693-13C>G Multiple submitters glycogen storage disease II
c.693-4G>A Multiple submitters glycogen storage disease II
c.858+14C>T Multiple submitters glycogen storage disease II
c.858+15G>A Multiple submitters glycogen storage disease II
c.858+7_858+8insAGCGGGCGGCGGGC Multiple submitters glycogen storage disease II
c.858+8_858+10delinsAGCGGGCGGT Multiple submitters glycogen storage disease II
c.859-10C>T Multiple submitters glycogen storage disease II
c.859-13C>T Multiple submitters glycogen storage disease II
c.859-18G>A Multiple submitters glycogen storage disease II
c.955+11C>T Multiple submitters glycogen storage disease II
c.955+167C>T Multiple submitters glycogen storage disease II
c.-32-4G>A Multiple submitters
c.-32-84G>A Multiple submitters
c.-9T>C Multiple submitters
p.Ala14= Multiple submitters Cardiovascular phenotype
p.Ala150= Multiple submitters Cardiovascular phenotype
p.Ala289= Multiple submitters Cardiovascular phenotype
p.Ala382= Multiple submitters glycogen storage disease II
p.Ala426= Multiple submitters Cardiovascular phenotype
p.Ala486= Multiple submitters Cardiovascular phenotype
p.Ala495= Multiple submitters glycogen storage disease II
p.Ala497= Multiple submitters Cardiovascular phenotype
p.Ala554= Multiple submitters Cardiovascular phenotype
p.Ala644= Multiple submitters Cardiovascular phenotype
p.Ala694= Multiple submitters Cardiovascular phenotype
p.Ala704= Multiple submitters Cardiovascular phenotype
p.Ala724= Multiple submitters Cardiovascular phenotype
p.Ala758= Multiple submitters Cardiovascular phenotype
p.Ala761= Multiple submitters Cardiovascular phenotype
p.Ala77= Multiple submitters Cardiovascular phenotype
p.Ala842= Multiple submitters Cardiovascular phenotype
p.Ala853= Multiple submitters Cardiovascular phenotype
p.Ala872= Multiple submitters Cardiovascular phenotype
p.Arg168= Multiple submitters Cardiovascular phenotype
p.Arg203= Multiple submitters Cardiovascular phenotype
p.Arg437= Multiple submitters Cardiovascular phenotype
p.Arg870= Multiple submitters Cardiovascular phenotype
p.Asn403= Multiple submitters glycogen storage disease II
p.Asn492= Multiple submitters Cardiovascular phenotype
p.Asn675= Multiple submitters glycogen storage disease II
p.Asn919= Multiple submitters Cardiovascular phenotype
p.Asp227= Multiple submitters Cardiovascular phenotype
p.Asp282= Multiple submitters Cardiovascular phenotype
p.Asp303= Multiple submitters Cardiovascular phenotype
p.Asp356= Multiple submitters Cardiovascular phenotype
p.Asp399= Multiple submitters Cardiovascular phenotype
p.Asp513= Multiple submitters glycogen storage disease II
p.Asp645= Multiple submitters glycogen storage disease II
p.Asp936= Multiple submitters glycogen storage disease II
p.Cys103= Multiple submitters glycogen storage disease II
p.Cys647= Multiple submitters glycogen storage disease II
p.Cys82= Multiple submitters glycogen storage disease II
p.Cys92= Multiple submitters Cardiovascular phenotype
p.Gln124= Multiple submitters Cardiovascular phenotype
p.Glu500= Multiple submitters glycogen storage disease II
p.Gly304= Multiple submitters Cardiovascular phenotype
p.Gly434= Multiple submitters glycogen storage disease II
p.Gly465= Multiple submitters glycogen storage disease II
p.Gly605= Multiple submitters Cardiovascular phenotype
p.Gly615= Multiple submitters glycogen storage disease II
p.Gly821= Multiple submitters glycogen storage disease II
p.Gly851= Multiple submitters Cardiovascular phenotype
p.Gly908= Multiple submitters Cardiovascular phenotype
p.His201= Multiple submitters glycogen storage disease II
p.His308= Multiple submitters glycogen storage disease II
p.His33= Multiple submitters glycogen storage disease II
p.His372= Multiple submitters glycogen storage disease II
p.His56= Multiple submitters glycogen storage disease II
p.His568= Multiple submitters glycogen storage disease II
p.His606= Multiple submitters glycogen storage disease II
p.His674= Multiple submitters Cardiovascular phenotype
p.His708= Multiple submitters Cardiovascular phenotype
p.His714= Multiple submitters Cardiovascular phenotype
p.Ile336= Multiple submitters Cardiovascular phenotype
p.Ile446= Multiple submitters Cardiovascular phenotype
p.Leu165= Multiple submitters Cardiovascular phenotype
p.Leu248= Multiple submitters Cardiovascular phenotype
p.Leu260= Multiple submitters Cardiovascular phenotype
p.Leu299= Multiple submitters Cardiovascular phenotype
p.Leu322= Multiple submitters glycogen storage disease II
p.Leu369= Multiple submitters Cardiovascular phenotype
p.Leu405= Multiple submitters Cardiovascular phenotype
p.Leu496= Multiple submitters Cardiovascular phenotype
p.Leu624= Multiple submitters Cardiovascular phenotype
p.Leu657= Multiple submitters glycogen storage disease II
p.Leu712= Multiple submitters glycogen storage disease II
p.Leu729= Multiple submitters Cardiovascular phenotype
p.Leu745= Multiple submitters Cardiovascular phenotype
p.Leu769= Multiple submitters glycogen storage disease II
p.Leu775= Multiple submitters Cardiovascular phenotype
p.Leu783= Multiple submitters glycogen storage disease II
p.Leu826= Multiple submitters Cardiovascular phenotype
p.Leu868= Multiple submitters glycogen storage disease II
p.Leu907= Multiple submitters Cardiovascular phenotype
p.Leu917= Multiple submitters Cardiovascular phenotype
p.Leu941= Multiple submitters Cardiovascular phenotype
p.Leu948= Multiple submitters glycogen storage disease II
p.Lys348= Multiple submitters glycogen storage disease II
p.Phe128= Multiple submitters Cardiovascular phenotype
p.Phe181= Multiple submitters Cardiovascular phenotype
p.Phe218= Multiple submitters Cardiovascular phenotype
p.Phe634= Multiple submitters Cardiovascular phenotype
p.Phe667= Multiple submitters glycogen storage disease II
p.Phe90= Multiple submitters Cardiovascular phenotype
p.Phe926= Multiple submitters Cardiovascular phenotype
p.Pro198= Multiple submitters Cardiovascular phenotype
p.Pro207= Multiple submitters Cardiovascular phenotype
p.Pro285= Multiple submitters glycogen storage disease II
p.Pro361= Multiple submitters Cardiovascular phenotype
p.Pro365= Multiple submitters Cardiovascular phenotype
p.Pro39= Multiple submitters Cardiovascular phenotype
p.Pro397= Multiple submitters Cardiovascular phenotype
p.Pro425= Multiple submitters Cardiovascular phenotype
p.Pro681= Multiple submitters glycogen storage disease II
p.Pro690= Multiple submitters Cardiovascular phenotype
p.Pro7= Multiple submitters Cardiovascular phenotype
p.Pro726= Multiple submitters Cardiovascular phenotype
p.Pro732= Multiple submitters glycogen storage disease II
p.Pro779= Multiple submitters Cardiovascular phenotype
p.Pro789= Multiple submitters Cardiovascular phenotype
p.Pro808= Multiple submitters glycogen storage disease II
p.Pro810= Multiple submitters Cardiovascular phenotype
p.Pro825= Multiple submitters Cardiovascular phenotype
p.Pro85= Multiple submitters Cardiovascular phenotype
p.Ser254= Multiple submitters glycogen storage disease II
p.Ser306= Multiple submitters Cardiovascular phenotype
p.Ser332= Multiple submitters glycogen storage disease II
p.Ser447= Multiple submitters glycogen storage disease II
p.Ser599= Multiple submitters Cardiovascular phenotype
p.Ser601= Multiple submitters Cardiovascular phenotype
p.Ser61= Multiple submitters Cardiovascular phenotype
p.Ser619= Multiple submitters Cardiovascular phenotype
p.Ser627= Multiple submitters Cardiovascular phenotype
p.Ser735= Multiple submitters glycogen storage disease II
p.Ser785= Multiple submitters Cardiovascular phenotype
p.Ser950= Multiple submitters Cardiovascular phenotype
p.Ter953= Multiple submitters glycogen storage disease II
p.Thr175= Multiple submitters Cardiovascular phenotype
p.Thr23= Multiple submitters Cardiovascular phenotype
p.Thr472= Multiple submitters glycogen storage disease II
p.Thr485= Multiple submitters glycogen storage disease II
p.Thr578= Multiple submitters glycogen storage disease II
p.Thr653= Multiple submitters Cardiovascular phenotype
p.Thr722= Multiple submitters Cardiovascular phenotype
p.Thr753= Multiple submitters Cardiovascular phenotype
p.Thr80= Multiple submitters glycogen storage disease II
p.Thr813= Multiple submitters Cardiovascular phenotype
p.Thr911= Multiple submitters glycogen storage disease II
p.Thr99= Multiple submitters glycogen storage disease II
p.Tyr110= Multiple submitters Cardiovascular phenotype
p.Tyr136= Multiple submitters glycogen storage disease II
p.Tyr191= Multiple submitters Cardiovascular phenotype
p.Tyr354= Multiple submitters glycogen storage disease II
p.Tyr609= Multiple submitters Cardiovascular phenotype
p.Tyr873= Multiple submitters glycogen storage disease II
p.Val171= Multiple submitters Cardiovascular phenotype
p.Val200= Multiple submitters Cardiovascular phenotype
p.Val387= Multiple submitters glycogen storage disease II
p.Val388= Multiple submitters Cardiovascular phenotype
p.Val400= Multiple submitters Cardiovascular phenotype
p.Val48= Multiple submitters Cardiovascular phenotype
p.Val480= Multiple submitters glycogen storage disease II
p.Val597= Multiple submitters Cardiovascular phenotype
p.Val642= Multiple submitters glycogen storage disease II
p.Val659= Multiple submitters Cardiovascular phenotype
p.Val763= Multiple submitters glycogen storage disease II
p.Val78= Multiple submitters Cardiovascular phenotype
p.Val805= Multiple submitters glycogen storage disease II
p.Val923= Multiple submitters glycogen storage disease II
c.1075+10G>A Single submitter glycogen storage disease II
c.1075+14C>G Single submitter glycogen storage disease II
c.1075+14C>T Single submitter glycogen storage disease II
c.1075+15C>T Single submitter glycogen storage disease II
c.1075+16T>C Single submitter glycogen storage disease II
c.1075+18G>A Single submitter glycogen storage disease II
c.1075+7C>T Single submitter glycogen storage disease II
c.1075+8del Single submitter glycogen storage disease II
c.1076-12del Single submitter glycogen storage disease II
c.1076-13C>T Single submitter glycogen storage disease II
c.1076-14G>A Single submitter glycogen storage disease II
c.1076-15G>T Single submitter glycogen storage disease II
c.1076-16C>T Single submitter glycogen storage disease II
c.1076-28C>A Single submitter
c.1076-39C>T Single submitter
c.1076-4G>T Single submitter glycogen storage disease II
c.1076-7C>T Single submitter glycogen storage disease II
c.1076-8G>A Single submitter glycogen storage disease II
c.1194+10G>A Single submitter glycogen storage disease II
c.1194+10G>T Single submitter glycogen storage disease II
c.1194+11G>T Single submitter glycogen storage disease II
c.1194+13G>A Single submitter glycogen storage disease II
c.1194+15_1194+17del Single submitter glycogen storage disease II
c.1194+15T>A Single submitter glycogen storage disease II
c.1194+15T>C Single submitter glycogen storage disease II
c.1194+16_1194+18del Single submitter glycogen storage disease II
c.1194+19_1194+20del Single submitter glycogen storage disease II
c.1194+20G>A Single submitter glycogen storage disease II
c.1194+20G>C Single submitter glycogen storage disease II
c.1194+45G>A Single submitter glycogen storage disease II
c.1194+8G>T Single submitter glycogen storage disease II
c.1194+9G>A Single submitter glycogen storage disease II
c.1194+9G>T Single submitter glycogen storage disease II
c.1195-16C>T Single submitter glycogen storage disease II
c.1195-17C>G Single submitter glycogen storage disease II
c.1195-18C>A Single submitter glycogen storage disease II
c.1195-19T>C Single submitter glycogen storage disease II
c.1195-4G>A Single submitter glycogen storage disease II
c.1195-5T>C Single submitter glycogen storage disease II
c.1195-7del Single submitter glycogen storage disease II
c.1195-9T>C Single submitter glycogen storage disease II
c.1326+11C>T Single submitter glycogen storage disease II
c.1326+12C>G Single submitter glycogen storage disease II
c.1326+13dup Single submitter glycogen storage disease II
c.1326+15A>G Single submitter glycogen storage disease II
c.1326+16C>G Single submitter glycogen storage disease II
c.1326+16C>T Single submitter glycogen storage disease II
c.1326+17T>C Single submitter glycogen storage disease II
c.1326+20G>T Single submitter glycogen storage disease II
c.1326+459C>T Single submitter glycogen storage disease II
c.1326+7G>A Single submitter glycogen storage disease II
c.1326+8C>A Single submitter glycogen storage disease II
c.1326+8C>G Single submitter glycogen storage disease II
c.1326+8C>T Single submitter glycogen storage disease II
c.1327-10C>T Single submitter glycogen storage disease II
c.1327-12C>T Single submitter glycogen storage disease II
c.1327-16G>A Single submitter glycogen storage disease II
c.1327-16G>T Single submitter glycogen storage disease II
c.1327-18A>C Single submitter glycogen storage disease II
c.1327-19_1327-18inv Single submitter glycogen storage disease II
c.1327-19C>T Single submitter
c.1327-209C>T Single submitter glycogen storage disease II
c.1327-20A>G Single submitter glycogen storage disease II
c.1327-4C>T Single submitter glycogen storage disease II
c.1327-5C>A Single submitter glycogen storage disease II
c.1327-5C>G Single submitter glycogen storage disease II
c.1327-5C>T Single submitter glycogen storage disease II
c.1327-6T>C Single submitter glycogen storage disease II
c.1327-7T>C Single submitter glycogen storage disease II
c.1327-8C>T Single submitter glycogen storage disease II
c.1327-9T>C Single submitter glycogen storage disease II
c.1327-9T>G Single submitter glycogen storage disease II
c.1437+13T>G Single submitter glycogen storage disease II
c.1437+16_1437+22dup Single submitter glycogen storage disease II
c.1437+16A>G Single submitter glycogen storage disease II
c.1437+16del Single submitter glycogen storage disease II
c.1437+17G>C Single submitter glycogen storage disease II
c.1437+18G>C Single submitter glycogen storage disease II
c.1437+19G>T Single submitter glycogen storage disease II
c.1437+20G>C Single submitter glycogen storage disease II
c.1437+20G>T Single submitter glycogen storage disease II

Uncertain significance 1169

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

c.1194+3G>C Expert panel glycogen storage disease II
c.1888+5G>T Expert panel glycogen storage disease II
c.2799+2C>A Expert panel glycogen storage disease II
c.2799+2C>T Expert panel glycogen storage disease II
c.2799+5G>A Expert panel glycogen storage disease II
c.546+5G>A Expert panel glycogen storage disease II
c.546+5G>T Expert panel glycogen storage disease II
c.-32-5C>T Expert panel glycogen storage disease II
p.131PSY[3] Expert panel glycogen storage disease II
p.Ala237Val Expert panel glycogen storage disease II ⚠
p.Ala242Glu Expert panel glycogen storage disease II
p.Ala242Val Expert panel glycogen storage disease II
p.Ala261Thr Expert panel glycogen storage disease II ⚠
p.Ala610Thr Expert panel glycogen storage disease II ⚠
p.Arg106Cys Expert panel glycogen storage disease II ⚠
p.Arg281Gln Expert panel glycogen storage disease II ⚠
p.Arg375Cys Expert panel glycogen storage disease II ⚠
p.Arg464Ser Expert panel glycogen storage disease II
p.Arg464Trp Expert panel glycogen storage disease II ⚠
p.Arg594Cys Expert panel glycogen storage disease II ⚠
p.Arg702Pro Expert panel glycogen storage disease II ⚠
p.Arg725Gln Expert panel glycogen storage disease II ⚠
p.Arg837His Expert panel glycogen storage disease II ⚠
p.Arg89Cys Expert panel glycogen storage disease II ⚠
p.Arg89His Expert panel glycogen storage disease II ⚠
p.Asn290Asp Expert panel glycogen storage disease II ⚠
p.Asn470Thr Expert panel glycogen storage disease II ⚠
p.Asp170= Expert panel glycogen storage disease II
p.Asp413Glu Expert panel glycogen storage disease II ⚠
p.Asp518_Met519insAsn Expert panel glycogen storage disease II
p.Asp741Asn Expert panel glycogen storage disease II ⚠
p.Cys647Phe Expert panel glycogen storage disease II ⚠
p.Gln803Arg Expert panel glycogen storage disease II ⚠
p.Glu430Lys Expert panel glycogen storage disease II ⚠
p.Gly44Val Expert panel glycogen storage disease II ⚠
p.Gly607_His612dup Expert panel glycogen storage disease II
p.His799Tyr Expert panel glycogen storage disease II ⚠
p.Ile446_Ala452dup Expert panel glycogen storage disease II
p.Ile823Phe Expert panel glycogen storage disease II ⚠
p.Leu32del Expert panel glycogen storage disease II
p.Leu574= Expert panel glycogen storage disease II
p.Met502Val Expert panel glycogen storage disease II ⚠
p.Phe467dup Expert panel glycogen storage disease II
p.Pro205= Expert panel glycogen storage disease II
p.Pro266Leu Expert panel glycogen storage disease II ⚠
p.Pro266Thr Expert panel glycogen storage disease II ⚠
p.Pro324Leu Expert panel glycogen storage disease II ⚠
p.Pro397Leu Expert panel glycogen storage disease II ⚠
p.Pro542= Expert panel glycogen storage disease II
p.Ser449Leu Expert panel glycogen storage disease II ⚠
p.Thr182Arg Expert panel glycogen storage disease II ⚠
p.Thr234Met Expert panel glycogen storage disease II ⚠
p.Thr806Met Expert panel glycogen storage disease II ⚠
p.Trp746Leu Expert panel glycogen storage disease II ⚠
p.Trp772Cys Expert panel glycogen storage disease II ⚠
p.Trp951Ter Expert panel glycogen storage disease II
p.Tyr340Cys Expert panel glycogen storage disease II ⚠
p.Tyr543= Expert panel glycogen storage disease II
p.Tyr928Cys Expert panel glycogen storage disease II ⚠
p.Val230Met Expert panel glycogen storage disease II ⚠
p.Val350Met Expert panel glycogen storage disease II ⚠
p.Val544Met Expert panel glycogen storage disease II ⚠
p.Val642Phe Expert panel glycogen storage disease II ⚠
c.1075+4G>A Multiple submitters glycogen storage disease II
c.1076-10T>A Multiple submitters glycogen storage disease II
c.1076-3C>T Multiple submitters glycogen storage disease II
c.1326+20G>A Multiple submitters glycogen storage disease II
c.1327-7T>G Multiple submitters glycogen storage disease II
c.1437+3A>G Multiple submitters
c.1551+5G>A Multiple submitters glycogen storage disease II
c.1636+5G>T Multiple submitters glycogen storage disease II
c.1637-4_1637-3delinsG Multiple submitters Cardiovascular phenotype
c.2189+5_2189+8del Multiple submitters glycogen storage disease II
c.2330_2331+4dup Multiple submitters Cardiovascular phenotype
c.2331+6T>G Multiple submitters glycogen storage disease II
c.2481+4C>G Multiple submitters glycogen storage disease II
c.2646+3G>A Multiple submitters glycogen storage disease II
c.546+3G>A Multiple submitters Cardiovascular phenotype
c.546+6C>T Multiple submitters glycogen storage disease II
c.858+4C>G Multiple submitters glycogen storage disease II
c.955+5G>A Multiple submitters glycogen storage disease II
c.955+5G>C Multiple submitters glycogen storage disease II
c.956-3C>T Multiple submitters glycogen storage disease II
c.-32-13T>C Multiple submitters glycogen storage disease II
c.*187_*203delinsGGG Multiple submitters glycogen storage disease II
c.*288G>T Multiple submitters glycogen storage disease II
c.*313C>G Multiple submitters glycogen storage disease II
p.Ala120Gly Multiple submitters glycogen storage disease II ⚠
p.Ala150Thr Multiple submitters glycogen storage disease II ⚠
p.Ala17Thr Multiple submitters glycogen storage disease II ⚠
p.Ala187Gly Multiple submitters glycogen storage disease II ⚠
p.Ala237Glu Multiple submitters ⚠
p.Ala24Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala25Val Multiple submitters glycogen storage disease II ⚠
p.Ala284Gly Multiple submitters glycogen storage disease II ⚠
p.Ala284Val Multiple submitters glycogen storage disease II ⚠
p.Ala289Glu Multiple submitters glycogen storage disease II ⚠
p.Ala300Glu Multiple submitters glycogen storage disease II
p.Ala382Thr Multiple submitters glycogen storage disease II ⚠
p.Ala394Thr Multiple submitters glycogen storage disease II ⚠
p.Ala486Val Multiple submitters glycogen storage disease II ⚠
p.Ala495Val Multiple submitters glycogen storage disease II ⚠
p.Ala554Val Multiple submitters glycogen storage disease II ⚠
p.Ala582Pro Multiple submitters glycogen storage disease II ⚠
p.Ala582Thr Multiple submitters glycogen storage disease II ⚠
p.Ala586Val Multiple submitters glycogen storage disease II ⚠
p.Ala625Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala644Pro Multiple submitters glycogen storage disease II ⚠
p.Ala68Ser Multiple submitters glycogen storage disease II ⚠
p.Ala698Thr Multiple submitters glycogen storage disease II ⚠
p.Ala698Val Multiple submitters glycogen storage disease II ⚠
p.Ala704Ser Multiple submitters glycogen storage disease II ⚠
p.Ala704Thr Multiple submitters glycogen storage disease II ⚠
p.Ala719Thr Multiple submitters glycogen storage disease II ⚠
p.Ala719Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala77Ser Multiple submitters glycogen storage disease II ⚠
p.Ala820Ser Multiple submitters glycogen storage disease II ⚠
p.Ala846Thr Multiple submitters glycogen storage disease II ⚠
p.Arg154His Multiple submitters glycogen storage disease II ⚠
p.Arg168Leu Multiple submitters glycogen storage disease II ⚠
p.Arg168Trp Multiple submitters glycogen storage disease II ⚠
p.Arg203Trp Multiple submitters glycogen storage disease II ⚠
p.Arg223Cys Multiple submitters glycogen storage disease II ⚠
p.Arg229Cys Multiple submitters glycogen storage disease II ⚠
p.Arg229His Multiple submitters glycogen storage disease II ⚠
p.Arg229Pro Multiple submitters glycogen storage disease II
p.Arg281dup Multiple submitters glycogen storage disease II
p.Arg385Cys Multiple submitters glycogen storage disease II ⚠
p.Arg385His Multiple submitters glycogen storage disease II ⚠
p.Arg411Trp Multiple submitters glycogen storage disease II ⚠
p.Arg422Trp Multiple submitters GAA-related disorder ⚠
p.Arg436Gln Multiple submitters glycogen storage disease II ⚠
p.Arg436Trp Multiple submitters glycogen storage disease II ⚠
p.Arg437His Multiple submitters glycogen storage disease II ⚠
p.Arg463Gln Multiple submitters glycogen storage disease II ⚠
p.Arg463Trp Multiple submitters glycogen storage disease II ⚠
p.Arg464_Gly465delinsSerTrp Multiple submitters glycogen storage disease II
p.Arg4Lys Multiple submitters glycogen storage disease II ⚠
p.Arg591Gln Multiple submitters glycogen storage disease II ⚠
p.Arg591Trp Multiple submitters glycogen storage disease II ⚠
p.Arg608Leu Multiple submitters glycogen storage disease II ⚠
p.Arg66Trp Multiple submitters glycogen storage disease II ⚠
p.Arg794Cys Multiple submitters glycogen storage disease II ⚠
p.Arg837Cys Multiple submitters glycogen storage disease II ⚠
p.Arg870Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg891Leu Multiple submitters glycogen storage disease II ⚠
p.Arg891Pro Multiple submitters glycogen storage disease II ⚠
p.Asn140Lys Multiple submitters glycogen storage disease II ⚠
p.Asn177Thr Multiple submitters glycogen storage disease II ⚠
p.Asn470Lys Multiple submitters glycogen storage disease II
p.Asn470Ser Multiple submitters glycogen storage disease II ⚠
p.Asn520Ser Multiple submitters glycogen storage disease II ⚠
p.Asn535Lys Multiple submitters glycogen storage disease II ⚠
p.Asn536Ser Multiple submitters glycogen storage disease II ⚠
p.Asn573Lys Multiple submitters glycogen storage disease II ⚠
p.Asn673Thr Multiple submitters glycogen storage disease II ⚠
p.Asn815Ser Multiple submitters glycogen storage disease II ⚠
p.Asn87Lys Multiple submitters glycogen storage disease II ⚠
p.Asn87Ser Multiple submitters glycogen storage disease II ⚠
p.Asp163Asn Multiple submitters glycogen storage disease II ⚠
p.Asp163Val Multiple submitters glycogen storage disease II ⚠
p.Asp338Tyr Multiple submitters glycogen storage disease II ⚠
p.Asp338Val Multiple submitters glycogen storage disease II ⚠
p.Asp404Val Multiple submitters glycogen storage disease II ⚠
p.Asp459Glu Multiple submitters glycogen storage disease II ⚠
p.Asp741Glu Multiple submitters glycogen storage disease II ⚠
p.Asp741Val Multiple submitters glycogen storage disease II ⚠
p.Asp83Asn Multiple submitters glycogen storage disease II ⚠
p.Asp861His Multiple submitters glycogen storage disease II ⚠
p.Asp931Asn Multiple submitters glycogen storage disease II ⚠
p.Cys127Tyr Multiple submitters glycogen storage disease II ⚠
p.Gln100Lys Multiple submitters glycogen storage disease II ⚠
p.Gln124Glu Multiple submitters glycogen storage disease II ⚠
p.Gln323His Multiple submitters glycogen storage disease II ⚠
p.Gln353His Multiple submitters glycogen storage disease II ⚠
p.Gln386His Multiple submitters glycogen storage disease II ⚠
p.Gln433His Multiple submitters glycogen storage disease II ⚠
p.Gln553Arg Multiple submitters glycogen storage disease II ⚠
p.Gln663His Multiple submitters glycogen storage disease II ⚠
p.Gln69Arg Multiple submitters glycogen storage disease II ⚠
p.Gln69Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln757Pro Multiple submitters glycogen storage disease II ⚠
p.Gln827Arg Multiple submitters glycogen storage disease II ⚠
p.Gln914Pro Multiple submitters glycogen storage disease II ⚠
p.Gln915His Multiple submitters glycogen storage disease II ⚠
p.Glu104Gln Multiple submitters glycogen storage disease II ⚠
p.Glu104Lys Multiple submitters glycogen storage disease II ⚠
p.Glu145Asp Multiple submitters glycogen storage disease II ⚠
p.Glu174Gly Multiple submitters glycogen storage disease II
p.Glu192Asp Multiple submitters glycogen storage disease II
p.Glu192Lys Multiple submitters glycogen storage disease II ⚠
p.Glu212Lys Multiple submitters glycogen storage disease II ⚠
p.Glu215Lys Multiple submitters glycogen storage disease II ⚠
p.Glu262Gln Multiple submitters glycogen storage disease II ⚠
p.Glu389Lys Multiple submitters glycogen storage disease II ⚠
p.Glu460Lys Multiple submitters glycogen storage disease II ⚠
p.Glu500Lys Multiple submitters glycogen storage disease II ⚠
p.Glu50Lys Multiple submitters glycogen storage disease II ⚠
p.Glu655Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu721Gln Multiple submitters glycogen storage disease II ⚠
p.Glu762Lys Multiple submitters glycogen storage disease II ⚠
p.Glu801Lys Multiple submitters glycogen storage disease II ⚠
p.Glu835Asp Multiple submitters glycogen storage disease II ⚠
p.Glu866Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu866Asp Multiple submitters glycogen storage disease II ⚠
p.Glu866Val Multiple submitters glycogen storage disease II ⚠
p.Glu945Gln Multiple submitters glycogen storage disease II ⚠
p.Gly107Ser Multiple submitters glycogen storage disease II ⚠
p.Gly116Glu Multiple submitters glycogen storage disease II ⚠
p.Gly116Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly228Asp Multiple submitters glycogen storage disease II ⚠
p.Gly288Asp Multiple submitters glycogen storage disease II ⚠
p.Gly288Ser Multiple submitters glycogen storage disease II ⚠
p.Gly2Ala Multiple submitters glycogen storage disease II ⚠
p.Gly304Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly368Val Multiple submitters glycogen storage disease II ⚠
p.Gly370Asp Multiple submitters glycogen storage disease II ⚠
p.Gly370Val Multiple submitters glycogen storage disease II ⚠
p.Gly453Arg Multiple submitters glycogen storage disease II ⚠
p.Gly461Ser Multiple submitters glycogen storage disease II ⚠
p.Gly473Ala Multiple submitters glycogen storage disease II ⚠
p.Gly473Ser Multiple submitters glycogen storage disease II ⚠
p.Gly514Ser Multiple submitters glycogen storage disease II ⚠
p.Gly532Cys Multiple submitters glycogen storage disease II ⚠
p.Gly549Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gly607Ser Multiple submitters glycogen storage disease II ⚠
p.Gly651Asp Multiple submitters glycogen storage disease II ⚠
p.Gly651Val Multiple submitters ⚠
p.Gly73Ser Multiple submitters glycogen storage disease II ⚠
p.Gly747Trp Multiple submitters glycogen storage disease II ⚠
p.Gly759Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly802Arg Multiple submitters glycogen storage disease II ⚠
p.Gly920Asp Multiple submitters glycogen storage disease II ⚠
p.Gly920Ser Multiple submitters glycogen storage disease II ⚠
p.His308Gln Multiple submitters glycogen storage disease II ⚠
p.His33Arg Multiple submitters glycogen storage disease II ⚠
p.His53Arg Multiple submitters ⚠
p.His572Gln Multiple submitters glycogen storage disease II ⚠
p.His572Pro Multiple submitters glycogen storage disease II ⚠
p.His584Pro Multiple submitters glycogen storage disease II ⚠
p.His606Pro Multiple submitters glycogen storage disease II ⚠
p.His612Arg Multiple submitters glycogen storage disease II ⚠
p.His612Asn Multiple submitters glycogen storage disease II ⚠
p.His612Pro Multiple submitters glycogen storage disease II ⚠
p.His708Asn Multiple submitters glycogen storage disease II ⚠
p.His708Asp Multiple submitters Cardiovascular phenotype
p.His71Arg Multiple submitters glycogen storage disease II ⚠
p.Ile183Met Multiple submitters glycogen storage disease II ⚠
p.Ile336Thr Multiple submitters glycogen storage disease II ⚠
p.Ile468Leu Multiple submitters glycogen storage disease II ⚠
p.Ile598Met Multiple submitters glycogen storage disease II
p.Ile823Leu Multiple submitters glycogen storage disease II ⚠
p.Leu138Val Multiple submitters glycogen storage disease II ⚠
p.Leu169Pro Multiple submitters glycogen storage disease II ⚠
p.Leu208Pro Multiple submitters glycogen storage disease II ⚠
p.Leu239Pro Multiple submitters glycogen storage disease II ⚠
p.Leu246Arg Multiple submitters glycogen storage disease II ⚠
p.Leu264Phe Multiple submitters glycogen storage disease II ⚠
p.Leu26Arg Multiple submitters Cardiovascular phenotype ⚠
p.Leu26Phe Multiple submitters glycogen storage disease II ⚠
p.Leu37Val Multiple submitters glycogen storage disease II ⚠
p.Leu398Met Multiple submitters glycogen storage disease II ⚠
p.Leu476Met Multiple submitters glycogen storage disease II ⚠
p.Leu571Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu624Phe Multiple submitters glycogen storage disease II ⚠
p.Leu624Pro Multiple submitters glycogen storage disease II ⚠
p.Leu632Pro Multiple submitters glycogen storage disease II ⚠
p.Leu745Arg Multiple submitters glycogen storage disease II ⚠
p.Leu769Phe Multiple submitters glycogen storage disease II ⚠
p.Leu769Ser Multiple submitters glycogen storage disease II ⚠
p.Leu811Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu843Pro Multiple submitters glycogen storage disease II ⚠
p.Leu847Arg Multiple submitters glycogen storage disease II ⚠
p.Leu907Pro Multiple submitters glycogen storage disease II ⚠
p.Leu948Phe Multiple submitters glycogen storage disease II ⚠
p.Lys733Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys96Glu Multiple submitters glycogen storage disease II ⚠
p.Met172Val Multiple submitters glycogen storage disease II ⚠
p.Met391Val Multiple submitters glycogen storage disease II ⚠
p.Met427Ile Multiple submitters glycogen storage disease II
p.Met671Lys Multiple submitters glycogen storage disease II ⚠
p.Met671Val Multiple submitters glycogen storage disease II ⚠
p.Met841Ile Multiple submitters glycogen storage disease II ⚠
p.Met841Val Multiple submitters Cardiovascular phenotype ⚠
p.Phe241Leu Multiple submitters glycogen storage disease II ⚠
p.Phe396Leu Multiple submitters glycogen storage disease II ⚠
p.Phe414Leu Multiple submitters glycogen storage disease II ⚠
p.Phe490Leu Multiple submitters glycogen storage disease II ⚠
p.Phe506Leu Multiple submitters glycogen storage disease II ⚠
p.Phe512Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe564Leu Multiple submitters glycogen storage disease II ⚠
p.Phe667Leu Multiple submitters glycogen storage disease II ⚠
p.Phe713Leu Multiple submitters glycogen storage disease II ⚠
p.Phe90Ile Multiple submitters glycogen storage disease II ⚠
p.Pro198Leu Multiple submitters glycogen storage disease II ⚠
p.Pro205Ala Multiple submitters glycogen storage disease II ⚠
p.Pro238Leu Multiple submitters glycogen storage disease II ⚠
p.Pro238Ser Multiple submitters glycogen storage disease II ⚠
p.Pro253Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro253Ser Multiple submitters glycogen storage disease II ⚠