Sugi Variant

Sugi Variant/GYS1

GYS1 — 709 ClinVar variants

All ClinVar germline GYS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 263 flagged for review →

25 Pathogenic · 4 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 21 Conflicting · 36 Benign · 10 Benign/Likely benign · 265 Likely benign · 332 Uncertain significance

Full GYS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 263

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 lean, ClinVar uncertain 209

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 209

Predictors split 54

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

All GYS1 variants

Pathogenic 25

  • p.Arg462Ter Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1230-2A>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1646-1_1647del Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg195Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg236fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg241Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg303Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg402fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp135fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gln168Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gln305Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu398fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu57Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly120fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly310fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu3fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro67fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ser412fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ser453Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Trp182Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Trp598Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Tyr514fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Tyr572_Ser573delinsTer Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.678+1G>C No assertion criteria glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly210= No assertion criteria glycogen storage disease due to muscle and heart glycogen synthase deficiency

Pathogenic/Likely pathogenic 4

  • c.678+1G>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp56fs Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu539Ter Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr54fs Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency

Likely pathogenic 16

  • c.119-2_120del Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1645+1G>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-2A>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1169+1G>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1170-2A>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1229+1G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1422+1G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.301-2A>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.493-1G>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg555Gln Single submitter GYS1-related disorders
  • p.Gly330fs Single submitter disorder of glycogen metabolism
  • p.His180fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.His478fs Single submitter GYS1-related disorders
  • p.Phe202fs Single submitter GYS1-related disorders
  • p.Trp512Ter Single submitter fetal akinesia deformation sequence 3
  • p.Tyr212Ter Single submitter GYS1-related disorder

Conflicting classifications of pathogenicity 21

  • c.1169+13C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1170-13C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.678+2T>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.942-9G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.-26C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala247= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg74= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp340= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Cys444= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Cys99= Single submitter GYS1-related disorder
  • p.Gly72= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.His446= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile139= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu420= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu79= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Met1Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro414= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro67= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr435= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr445= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Val101= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency

Benign 36

  • c.1170-68T>A Multiple submitters
  • c.1170-89T>C Multiple submitters
  • c.119-72G>A Multiple submitters
  • c.1309-261T>C Multiple submitters
  • c.1549+7G>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1646-61T>A Multiple submitters
  • c.1809+294C>T Multiple submitters
  • c.492+9C>T Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.493-125C>T Multiple submitters
  • c.493-22G>T Multiple submitters
  • c.942-126G>A Multiple submitters
  • c.942-87C>A Multiple submitters
  • c.-182T>G Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.-19C>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp118= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu539Lys Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly140= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Lys231= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Phe342= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr515= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Val186Ile Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-182G>A Single submitter
  • c.1063-269CAAAA[4] Single submitter
  • c.1169+94GTTT[4] Single submitter
  • c.1170-217T>G Single submitter
  • c.1170-219G>A Single submitter
  • c.1308+239C>T Single submitter
  • c.1309-186_1309-182del Single submitter
  • c.1309-297T>G Single submitter
  • c.1309-329G>A Single submitter
  • c.1423-10del Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1549+249_1549+250insTGGGCAT Single submitter
  • c.301-269dup Single submitter
  • c.301-283T>C Single submitter
  • c.941+10dup Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala329= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency

Benign/Likely benign 10

  • c.300+8G>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*725C>T Multiple submitters
  • p.Ala616= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp671= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu78= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly185= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile583= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Met416Val Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr69= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Val642= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency

Likely benign 265

  • c.1170-15C>T Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1170-6C>T Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.119-31G>A Multiple submitters
  • c.1308+70C>G Multiple submitters
  • c.1423-55C>T Multiple submitters
  • c.1549+25C>T Multiple submitters
  • c.1549+37A>G Multiple submitters
  • c.1810-19C>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-47G>A Multiple submitters
  • c.1810-6C>T Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.300+11G>T Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.300+41C>T Multiple submitters
  • c.300+7C>T Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.492+8C>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.679-16del Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.823+11_823+12del Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.941+85G>C Multiple submitters
  • c.942-20G>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*256G>A Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala215= Multiple submitters Inborn genetic diseases
  • p.Ala370= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala517= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg348= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn356= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn467= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn665= Multiple submitters Inborn genetic diseases
  • p.Gly59= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile328= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu166= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Lys271= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Phe103= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Phe400= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ser358= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr361= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr392= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr49= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Val504= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1062+10G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1062+11G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1062+15A>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1062+20G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-17C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-18T>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-19C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-20C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-4G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-5C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-8C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1063-9T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1169+14G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1169+18C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1169+19G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1169+19G>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1169+83T>C Single submitter
  • c.1169+9C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1170-13C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1170-20T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1170-4C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1170-6C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.118+124_118+125insCTGTGACTC Single submitter
  • c.118+18C>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.118+260A>T Single submitter
  • c.119-14G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.119-14G>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.119-15C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1229+15C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1229+16T>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1229+19G>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1230-13G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1230-19G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1308+18G>T Single submitter
  • c.1308+20G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1308+245C>T Single submitter
  • c.1308+8T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1309-17T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1309-20C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1309-4G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1309-8T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1309-9del Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1422+17A>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1423-137C>G Single submitter
  • c.1423-13T>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1423-15_1423-13del Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1423-20T>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1423-4C>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1549+10G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1549+16dup Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1549+18G>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1549+19G>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1549+221C>T Single submitter
  • c.1549+303G>A Single submitter
  • c.1549+326G>A Single submitter
  • c.1549+7G>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1550-16T>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1550-17C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1550-18T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1550-5C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1646-34G>C Single submitter
  • c.1646-4A>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1646-6C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1646-76C>T Single submitter
  • c.1646-9C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1809+13C>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1809+18C>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1809+266_1809+270dup Single submitter
  • c.1809+7C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1809+9C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-11C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-123T>C Single submitter
  • c.1810-13T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-15C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-18del Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-19C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-20C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-20C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-7C>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-7C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-9T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1890+11C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1891-11G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1891-19C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.300+11del Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.300+11G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.300+14C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.300+7C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.301-10C>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.301-10C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.301-16C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.492+10G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.492+16C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.492+173G>A Single submitter
  • c.492+17A>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.492+20T>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.493-17G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.678+13C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.678+14G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.679-18C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.679-19G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.679-4C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.823+11G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.823+13C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.823+20C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.823+305T>C Single submitter
  • c.824-12C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.824-14dup Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.824-161CAAA[3] Single submitter
  • c.941+164A>G Single submitter
  • c.941+20A>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.941+7G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.942-12T>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.942-13G>C Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.942-14del Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.942-20G>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*1113_*1116del Single submitter
  • c.*387G>A Single submitter
  • c.*421A>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*450G>A Single submitter
  • c.*611C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*841A>G Single submitter
  • c.*908G>A Single submitter
  • p.Ala125= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala289= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala470= Single submitter
  • p.Ala51= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala612= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala681= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala690= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala714= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg146= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg194= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg272= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg309= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg371= Single submitter
  • p.Arg430= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg472= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg580= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg609= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg708= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn149= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn228= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn295= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn374= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn376= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn626= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn626Ser Single submitter Inborn genetic diseases
  • p.Asp145= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp150= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp23= Single submitter
  • p.Asp454= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp554= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp56= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Cys251= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gln267= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gln388= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gln438= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu147= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu333= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu398= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu406= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu423= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu494= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu669= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu81= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly163= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly633= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly66= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly672= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.His250= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.His253= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile108= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile201= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile238= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile264= Single submitter
  • p.Ile524= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile542= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu116= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu133= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu183= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu213= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu596= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu613= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu64= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Leu726= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Lys381= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Lys429= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Lys50= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Phe161= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Phe227= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Phe327= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Phe433= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro142= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro2= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro479= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro506= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro511= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro644= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro654= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro667= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro722= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro728= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro85= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ser453= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ser593= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ser704= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr159= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr207= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr257= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr262= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr379= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr395= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr45= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr568= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr84= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Tyr144= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Tyr239= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Tyr332= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Tyr572= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Tyr605= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Tyr636= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Val198= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Val385= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Val491= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Val53= Single submitter
  • p.Val711= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile688= No assertion criteria GYS1-related disorder

Uncertain significance 332

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

  • p.Ala167Glu Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala193Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala252Thr Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala27Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala298Thr Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala630= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala697Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg105His Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg128His Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg146His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg211Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg241Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg303Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg348Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg386Cys Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg386His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg498Cys Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg498His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg635His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg638Trp Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg664Trp Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg674His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg689Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg708Gly Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg708His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg736His Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn336Ser Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn350Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn374Ser Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn530Ser Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn61Ser Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn737Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp23Asn Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp415Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp671Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gln360Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln71His Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu132Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu265Lys Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu359= Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu510Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu627Lys Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu670Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu670Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu679Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu735Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Gly104Arg Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly185Ser Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly216Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly357Ser Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly382Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly59Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly633Val Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly672Ser Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.His268Leu Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.His478Tyr Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ile108Met Multiple submitters Inborn genetic diseases
  • p.Leu353Phe Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Lys286del Multiple submitters Inborn genetic diseases
  • p.Lys381Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys707Thr Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Met368Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met427Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met611Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe440Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro112Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro142Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro442Ala Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro479Leu Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro654Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro722fs Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro85Leu Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser358Gly Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser412Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser439Asn Multiple submitters Inborn genetic diseases
  • p.Ser507Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser559Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser641Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser698Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser702Phe Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser723Arg Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser93Phe Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Thr395Met Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Thr435Ala Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Thr45Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr49Met Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Thr520Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr84Ile Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Val218Met Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Val229Met Multiple submitters Inborn genetic diseases
  • p.Val341Ile Multiple submitters glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Val711Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Val73Met Multiple submitters Inborn genetic diseases ⚠
  • c.1062+5G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1308+5G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1309-3C>T Single submitter
  • c.1423-3C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1810-14C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.1890+1G>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.300+3G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.678+30T>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.824-10C>A Single submitter
  • c.941+4C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.941+5G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.-157C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.-195T>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*1044T>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*110G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*143C>G Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*229C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*26G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*357G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*395C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*413G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*465G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*472G>A Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*59A>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*78C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • c.*969C>T Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala121Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala125Val Single submitter Inborn genetic diseases ⚠
  • p.Ala217Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala247Thr Single submitter Inborn genetic diseases
  • p.Ala247Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala263Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala266Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala289Gly Single submitter ⚠
  • p.Ala298Val Single submitter Inborn genetic diseases ⚠
  • p.Ala329Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala329Val Single submitter Inborn genetic diseases ⚠
  • p.Ala339Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala33Gly Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala347Val Single submitter Inborn genetic diseases ⚠
  • p.Ala370Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala393Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala51Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala608Glu Single submitter ⚠
  • p.Ala608Gly Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala608Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala612Pro Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala612Thr Single submitter ⚠
  • p.Ala612Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala616Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala616Val Single submitter Inborn genetic diseases ⚠
  • p.Ala628Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ala640Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ala681Val Single submitter Inborn genetic diseases ⚠
  • p.Ala682Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg128Cys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg194Gln Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg194Trp Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg195Gln Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg211His Single submitter Inborn genetic diseases ⚠
  • p.Arg309Gln Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg331Pro Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg371Gln Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg371Trp Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg437Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg462Gln Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg556Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg579Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg582Cys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg588His Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg591His Single submitter Inborn genetic diseases ⚠
  • p.Arg5His Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg603Pro Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg609His Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg609Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg635Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg650Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg685Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg686Cys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg686His Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg695fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg695His Single submitter ⚠
  • p.Arg736Cys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Arg736fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Arg74Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn222Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn226= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asn228Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn374Asp Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn376Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn394Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn467Asp Single submitter ⚠
  • p.Asn665Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn665Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asn709Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp135Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp150Asn Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp150Tyr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp17Val Single submitter Inborn genetic diseases ⚠
  • p.Asp340Asn Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp340Glu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp421His Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp450Val Single submitter ⚠
  • p.Asp471Asn Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp471Gly Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp492Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp561Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp60Asn Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp662Gly Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Asp676fs Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Asp678Asn Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Cys137Tyr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Cys500Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys564Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys699Phe Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gln168Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln267Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln360Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gln436Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gln566= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gln585Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gln656Ter Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu19Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu235Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu359Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu57Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu624= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Glu624Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu673Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu680Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Glu724Lys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly131Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly140Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly14Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Gly163Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly216Ala Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly216Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly330Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly330Ser Single submitter ⚠
  • p.Gly338Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly382Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly401Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly401Glu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly464Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly523Glu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly72Cys Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Gly733Asp Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.His253Gln Single submitter ⚠
  • p.His291Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.His315Gln Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.His315Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.His620Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.His655Pro Single submitter Inborn genetic diseases ⚠
  • p.Ile201Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ile276Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Ile542Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Leu153Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Leu190Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Leu349Pro Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Leu592Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu595Ile Single submitter Inborn genetic diseases
  • p.Leu7Phe Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Leu7Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Lys100= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Lys271Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys322Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys322Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys397Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Lys399Arg Single submitter ⚠
  • p.Lys50Asn Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Lys97Gln Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Lys97Glu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Met1Ile Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Met419Arg Single submitter Inborn genetic diseases ⚠
  • p.Met419Val Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Met611Arg Single submitter Inborn genetic diseases
  • p.Met9Ile Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Phe165Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Phe366Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro13Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro173Ala Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro442Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro455Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro455Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro487Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro516= Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Pro516Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro545Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro637Ala Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro637Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro663Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro67Leu Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro694Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Pro728Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro728Ser Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser169Gly Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser439Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser439Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser469Arg Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser532Thr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser573Asn Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser704Gly Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser716Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser723Asn Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency ⚠
  • p.Ser8Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ter738Tyr Single submitter glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • p.Thr200Asn Single submitter Inborn genetic diseases ⚠