Sugi Variant

Sugi Variant/GYS2

GYS2 — 376 ClinVar variants

All ClinVar germline GYS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

12 Pathogenic · 14 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 23 Conflicting · 51 Benign · 14 Benign/Likely benign · 85 Likely benign · 156 Uncertain significance

Full GYS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 101

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 21

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

All GYS2 variants

Pathogenic 12

  • p.Met152_Leu153insTer Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Phe155fs Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.941+1G>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.942-42_974del Single submitter
  • p.Arg422Ter Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Arg5Ter Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asn126fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Leu404fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Phe365fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Trp18fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Tyr174Ter Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ser483Pro No assertion criteria glycogen storage disorder due to hepatic glycogen synthase deficiency

Pathogenic/Likely pathogenic 14

  • c.1062+1G>T Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1423-1G>A Multiple submitters GYS2-related disorders
  • c.495+1G>T Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ala339Pro Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Arg192Ter Multiple submitters GYS2-related disorders
  • p.Arg246Ter Multiple submitters GYS2-related disorders
  • p.Arg386Ter Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asn39Ser Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp471fs Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gln183Ter Multiple submitters GYS2-related disorders
  • p.Pro479Gln Multiple submitters GYS2-related disorders
  • p.Thr361fs Multiple submitters disorder of glycogen metabolism
  • p.Thr520fs Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Trp59Ter Multiple submitters disorder of glycogen metabolism

Likely pathogenic 21

  • c.122-8_186delinsATCAGA Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1230-1G>A Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Arg147Ter Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Met491Arg Multiple submitters GYS2-related disorders
  • c.122-2A>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.122-8_141del Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1229+1G>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.942-2A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp317fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp492Val Single submitter
  • p.Cys243Ter Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gln49fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gln585Ter Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Glu480fs Single submitter GYS2-related disorders
  • p.Glu58fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ile120fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ile476Asn Single submitter
  • p.Leu488fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Phe104fs Single submitter
  • p.Thr568fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Tyr508Asp Single submitter

Conflicting classifications of pathogenicity 23

  • c.1230-5T>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1890+12A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.678+1G>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.942-12G>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Arg309Ter Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asn417= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp93= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Cys100Phe Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Cys564Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln17Arg Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Glu32Asp Single submitter GYS2-related disorders ⚠
  • p.Glu518Ala Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Gly210= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ile186Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu209= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Leu316= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Pro691Leu Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ser627Leu Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Tyr548= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Tyr668= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Val175= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Val553Ile Single submitter Inborn genetic diseases ⚠
  • p.Val690Phe Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠

Benign 51

  • c.1062+51T>C Multiple submitters
  • c.1169+12A>T Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.121+134T>C Multiple submitters
  • c.1229+11G>A Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1229+40T>C Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1309-134G>A Multiple submitters
  • c.1309-138C>G Multiple submitters
  • c.1309-189C>T Multiple submitters
  • c.1422+125G>T Multiple submitters
  • c.1422+23C>G Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1423-87G>C Multiple submitters
  • c.1550-59T>C Multiple submitters
  • c.1550-99T>C Multiple submitters
  • c.1809+100A>T Multiple submitters
  • c.1809+101T>A Multiple submitters
  • c.303+155A>C Multiple submitters
  • c.304-17T>C Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.496-54C>T Multiple submitters
  • c.496-55G>T Multiple submitters
  • c.941+64A>G Multiple submitters
  • c.942-17G>A Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.942-83T>G Multiple submitters
  • c.*152C>T Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*6A>T Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ala94Thr Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp415Glu Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp669Asn Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gln655His Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.His689= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ile463= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Leu488= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Met363Val Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Thr546Ala Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1062+215_1062+219del Single submitter
  • c.1063-222T>C Single submitter
  • c.1169+170G>T Single submitter
  • c.1170-99_1170-85del Single submitter
  • c.1230-14dup Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1422+203A>C Single submitter
  • c.1422+215C>T Single submitter
  • c.1423-104A>G Single submitter
  • c.1549+162A>G Single submitter
  • c.1890+179G>T Single submitter
  • c.1890+234G>A Single submitter
  • c.304-105T>C Single submitter
  • c.496-11del Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.496-11dup Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.823+166G>A Single submitter
  • c.824-221C>A Single submitter
  • c.*290G>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Arg192= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency

Benign/Likely benign 14

  • c.1063-15C>G Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1423-21A>G Multiple submitters
  • c.1549+19G>A Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1890+25del Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.942-7del Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ala193Thr Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asn376= Multiple submitters Inborn genetic diseases
  • p.Glu624= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gly141Ser Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.His205= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Leu567= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Phe685Ser Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Thr589= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Thr630Met Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency

Likely benign 85

  • c.121+20del Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1549+12G>A Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1645+7G>T Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.304-74C>A Multiple submitters
  • c.679-71G>A Multiple submitters
  • p.Asp669= Multiple submitters
  • p.His98= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Phe570= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Thr546= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Tyr174His Multiple submitters Inborn genetic diseases
  • p.Tyr572= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Val176Ile Multiple submitters Inborn genetic diseases
  • p.Val277= Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1062+13T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1063-103C>A Single submitter
  • c.1169+8C>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.122-28A>T Single submitter
  • c.1229+11G>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1229+17C>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1229+20_1229+26del Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1422+7C>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1423-191C>T Single submitter
  • c.1549+17G>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1550-10C>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1550-12T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1646-130del Single submitter
  • c.1646-146A>G Single submitter
  • c.1646-22C>T Single submitter
  • c.1809+8A>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.303+19C>T Single submitter
  • c.304-12T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.304-18G>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.304-20C>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.495+10A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.495+14T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.496-19T>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.678+15C>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.823+18A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.941+16T>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.941+20A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.942-18G>T Single submitter
  • c.942-19T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.-17G>A Single submitter
  • c.-219T>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ala263= Single submitter
  • p.Arg309= Single submitter
  • p.Arg462= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Arg582= Single submitter
  • p.Asn280= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asn468= Single submitter
  • p.Asp133= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp171= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp415= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp597= Single submitter
  • p.Asp93Glu Single submitter
  • p.Glu518= Single submitter
  • p.Glu58= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Glu61Asp Single submitter Inborn genetic diseases
  • p.Gly132Asp Single submitter
  • p.Gly156= Single submitter
  • p.Gly533Arg Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gly549= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gly633= Single submitter
  • p.His250= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.His622= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ile360Val Single submitter Inborn genetic diseases
  • p.Ile583= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Leu12= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Leu296= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Leu440= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Lys97= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Phe617= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Pro637= Single submitter
  • p.Ser139= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ser248= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ser649= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Thr445= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Thr453= Single submitter
  • p.Thr46= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Tyr514= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Val140= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Val20= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Val392= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Glu700= No assertion criteria
  • p.Lys397= No assertion criteria GYS2-related disorder

Uncertain significance 156

  • c.*359C>T Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Arg386Gln Multiple submitters ⚠
  • p.Arg558Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg579Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg582Lys Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Arg678Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp319Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp86Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys100Tyr Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Cys251Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu245Gly Multiple submitters ⚠
  • p.Glu267Lys Multiple submitters Inborn genetic diseases ⚠
  • p.His610Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His72Arg Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Leu29Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu592Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro143Ser Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ser157Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Thr445Met Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Thr589Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Trp182Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr493Asn Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Tyr636His Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Val377Met Multiple submitters glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Val642Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1170-4A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1229+6T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1550-1G>A Single submitter
  • c.171_1705del Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1810-3T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.1891-3C>G Single submitter
  • c.495+3A>G Single submitter
  • c.942-6T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.942-79A>G Single submitter
  • c.-109G>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.-240A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*237T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*259T>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*406T>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*408A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*458A>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*468T>C Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*520A>G Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*545G>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*654G>A Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • c.*684C>T Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ala206Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala247Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala252= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Ala252Gly Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ala329Val Single submitter ⚠
  • p.Ala517Pro Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ala52Thr Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ala651Val Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Arg331Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg469Cys Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Arg469His Single submitter ⚠
  • p.Arg556Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg580Cys Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Arg580His Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Arg676Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg678Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn150Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn373Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn39Lys Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Asn587Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp119Val Single submitter ⚠
  • p.Asp168Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp225Val Single submitter Inborn genetic diseases ⚠
  • p.Asp230Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp230Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp317Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp391Tyr Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Asp418Asn Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Asp450Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp57fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Asp597Asn Single submitter ⚠
  • p.Asp597Gly Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Asp658Val Single submitter Inborn genetic diseases ⚠
  • p.Asp86Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys214Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys243Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys81Ser Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Gln178= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gln237Pro Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Gln305Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu398Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu660Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu675Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly141Arg Single submitter ⚠
  • p.Gly172Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly281Ser Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Gly99Arg Single submitter Inborn genetic diseases ⚠
  • p.His103Arg Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.His297Gln Single submitter Inborn genetic diseases ⚠
  • p.His446Asp Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.His541Gln Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.His607Arg Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ile189Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile201Leu Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ile218Thr Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ile360Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile413Val Single submitter Inborn genetic diseases ⚠
  • p.Ile427Leu Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Ile463Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile476Thr Single submitter ⚠
  • p.Leu127Pro Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Leu209Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu213His Single submitter ⚠
  • p.Leu224Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu270Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu29Val Single submitter Inborn genetic diseases ⚠
  • p.Leu2Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu571= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Leu687Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu7Phe Single submitter Inborn genetic diseases ⚠
  • p.Lys231Asn Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Lys286Glu Single submitter ⚠
  • p.Lys322Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys371Glu Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Lys381Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys474Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys97Glu Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Met269Thr Single submitter Inborn genetic diseases ⚠
  • p.Met491Thr Single submitter ⚠
  • p.Met95Val Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Phe155Cys Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Phe202Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe227Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe570Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe685= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Pro279Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro442Ser Single submitter ⚠
  • p.Pro684Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser458Ile Single submitter Inborn genetic diseases ⚠
  • p.Ser458Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser526Ile Single submitter Inborn genetic diseases ⚠
  • p.Ser578Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser627Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr204= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Thr204Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr426Ile Single submitter ⚠
  • p.Thr520Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr529= Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Val116Ile Single submitter Inborn genetic diseases ⚠
  • p.Val258Asp Single submitter Inborn genetic diseases ⚠
  • p.Val33Ala Single submitter Inborn genetic diseases
  • p.Val542Met Single submitter Inborn genetic diseases ⚠
  • p.Val659fs Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency
  • p.Val663Met Single submitter Inborn genetic diseases ⚠
  • p.Val690Ile Single submitter glycogen storage disorder due to hepatic glycogen synthase deficiency ⚠
  • p.Val78Glu Single submitter Inborn genetic diseases ⚠
  • c.122-3879_122-3845del No assertion criteria schizophrenia
  • c.1809+4_1809+13del No assertion criteria GYS2-related disorder
  • p.Asp275His No assertion criteria GYS2-related disorder ⚠
  • p.Glu510Lys No assertion criteria GYS2-related disorder ⚠