Sugi Variant

Sugi Variant/G6PC1

G6PC1 — 584 ClinVar variants

All ClinVar germline G6PC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →

74 Pathogenic · 33 Pathogenic/Likely pathogenic · 54 Likely pathogenic · 29 Conflicting · 23 Benign · 6 Benign/Likely benign · 194 Likely benign · 171 Uncertain significance

Full G6PC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 141

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

Predictors vs ClinVar 2

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

Predictors agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 84

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

Predictors split 36

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

All G6PC1 variants

Pathogenic 74

  • c.231-1G>A Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg170Gln Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg170Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg83Cys Multiple submitters G6PC-related disorders
  • p.Arg83His Multiple submitters G6PC-related disorders
  • p.Asp38Val Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln104Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln27fs Multiple submitters G6PC-related disorders
  • p.Gln347Ter Multiple submitters G6PC-related disorders
  • p.Gln54Pro Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly188Arg Multiple submitters G6PC-related disorders
  • p.Gly222Arg Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly270Val Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.His119Leu Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile198fs Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile341Asn Multiple submitters G6PC-related disorders
  • p.Lys263fs Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Lys76Asn Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Trp50fs Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp63Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp70Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp77Arg Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr127Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr128fs Multiple submitters G6PC-related disorders
  • p.Tyr323Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr85Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.230+1G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-7_356del Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg170fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asn276fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys109Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys109fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys150_Leu151insTer Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys245Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln24Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln27Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly118Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly184fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly184Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly222fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly58fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.His119Asp Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile154fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu101fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu135fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu46fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu89fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Lys287fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Met130Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe215Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro248fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser187Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser316fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr108Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr267fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp156Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp160Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp236Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp250Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp70fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp77Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp87Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr128Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr172Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr209Cys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Tyr23Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr44Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr94Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val166Gly Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val340_Pro342del Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val340_Tyr343delinsAsn Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.230+4A>G No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Met130fs No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Pathogenic/Likely pathogenic 33

  • c.230+1G>C Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-3C>G Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala124Thr Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala274Val Multiple submitters G6PC-related disorders
  • p.Ala65Pro Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg295Cys Multiple submitters G6PC-related disorders ⚠
  • p.Arg295His Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gln20Arg Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln242Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Glu110Lys Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly122Asp Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly184Val Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly188Ser Multiple submitters G6PC-related disorders
  • p.Gly68Arg Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile171fs Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile253fs Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu216= Multiple submitters G6PC-related disorders
  • p.Leu335fs Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Met5Arg Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Phe322Val Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Phe327del Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe80Ile Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro178Leu Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser169Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr255Ile Multiple submitters G6PC1-related disorder
  • p.Trp156Leu Multiple submitters G6PC-related disorders
  • p.Trp236Arg Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp244Ter Multiple submitters G6PC-related disorders
  • p.Trp86Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr18Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr93Ter Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val338Phe Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val88fs Multiple submitters Inborn genetic diseases

Likely pathogenic 54

  • c.447-1G>C Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala274Thr Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asn264Lys Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly270Arg Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe322Leu Multiple submitters disorder of glycogen metabolism ⚠
  • p.Ser298Pro Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-11_340+10del Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+1G>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+2T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.447-1G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-1G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala183fs Single submitter
  • p.Ala192Glu Single submitter
  • p.Ala274Pro Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala336Glu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg147Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg83Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys245_Pro248delinsTer Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln180Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln20_Val21insTer Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln351Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Glu2Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly118Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly122Val Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly184Glu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly270Asp Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly81Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.His119Tyr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.His176Tyr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.His179Pro Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile102Lys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu168fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu71fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Met121Thr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Met121Val Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Met5Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Met5Lys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Phe80Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro178Ala Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro178Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro257fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro257Thr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro84fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser34fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr255Asn Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp236Gly Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp291Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp50Ter Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Trp63Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr93fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys167fs No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Lys285fs No assertion criteria Increased hepatic glycogen content
  • p.Tyr23fs No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val318fs No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Conflicting classifications of pathogenicity 29

  • c.230+11T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-12G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+10C>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.562+10G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.-45G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala331= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala331Val Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ala65Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Arg149= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg149Gln Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Asn6= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys109Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys167Tyr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly188Asp Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly222Ala Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.His119Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Leu173Pro Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Leu225Pro Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Leu265Val Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Phe322Tyr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro257His Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Thr16Ala Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Thr267Met Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Trp63Cys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val166Ala Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val232Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val304Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val324Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val74Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠

Benign 23

  • c.340+188A>G Multiple submitters
  • c.340+203T>G Multiple submitters
  • c.340+226T>C Multiple submitters
  • c.446+73A>G Multiple submitters
  • c.447-58T>A Multiple submitters
  • c.562+54T>C Multiple submitters
  • c.*1294C>A Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1304G>A Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*23T>C Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*250G>A Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*877T>C Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-139C>T Single submitter
  • c.446+150A>G Single submitter
  • c.*1012C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1210C>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2088A>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2095T>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2474C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2532G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2723G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*727T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala204Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser205= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Benign/Likely benign 6

  • c.340+42C>T Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.-77G>A Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*3G>A Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro144= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro334= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr44= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Likely benign 194

  • c.231-4A>G Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+20C>T Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+20G>T Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*745G>T Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala190= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala241= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala274= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asn22= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln242= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile36= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu151= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu164= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu186= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu268= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu345= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Lys290= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro314= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser316= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser337= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr255= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr128= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val99= Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.230+10A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.230+13T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.230+14A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.230+16A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.230+30A>G Single submitter
  • c.230+8C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.230+9C>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-10T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-15T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-17G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-18T>C Single submitter
  • c.231-20C>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-5C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-7T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.231-8T>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+10C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+13del Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+14C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+20C>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+7G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+7G>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+7G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+8T>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.340+9C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-12C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-13T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-18C>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-6C>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-6C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-8C>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-8C>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.341-8C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+14A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+16T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+17G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+19G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+19G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+20G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.446+62A>T Single submitter
  • c.446+7A>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.447-14C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.447-19del Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.447-20G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.447-4G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.447-6T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.562+11A>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.562+19C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.562+25_562+28del Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.562+7G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.562+9T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-18A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-18A>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-20T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-4T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-5C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-6A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-6A>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-8C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2418G>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2975A>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala120= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala183= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala301= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala336= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala42= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala65= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Arg243= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asn152= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asn264= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asn72= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asp233= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asp254= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asp310= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asp38= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys150= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln14= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gln82= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Glu2= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Glu249= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Glu282= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Glu3= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Glu319= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly114= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly118= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly229= Single submitter
  • p.Gly231= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly270= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly272= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly350= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.His119= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.His307= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.His52= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile137= Single submitter
  • p.Ile221= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile31= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile341= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile49= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile78= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu135= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu157= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu19= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu206= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu211= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu225= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu226= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu234= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu235= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu261= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu262= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu265= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu271= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu288= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu296= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu303= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu306= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu32= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu320= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu335= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu349= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu73= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Lys263= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Lys285= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe105= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe214= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe219= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe309= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe322= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe47= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe75= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Phe80= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro178= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro257= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro293= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro315= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro342= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro352= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro48= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Pro84= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser133= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser15= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser200= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser260= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser297= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser34= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser356= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser95= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser98= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr108= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr123= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr132= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr134= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr145= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr16= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr194= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr267= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr91= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr127= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr23= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr323= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr343= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr85= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val153= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val162= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val251= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val318= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val332Ala Single submitter
  • p.Val333= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val338= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val340= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val348= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val45= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Tyr202= No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Uncertain significance 171

  • c.*103C>T Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1324C>T Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala37Thr Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ala56Asp Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Arg149Trp Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Asn72Ser Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Asp28Asn Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Asp90Gly Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gln27His Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.His9Gln Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ile212Phe Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ile212Val Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ile59Val Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Lys355Arg Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Met279Thr Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro144Leu Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro315Ala Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro315Leu Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro352Leu Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ser326Cys Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Thr132Ile Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Thr213Ile Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val185Ile Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val45Ile Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val99Met Multiple submitters glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • c.231-3T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.562+4T>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.563-3C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1039G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*119C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*120G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1311G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1400G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1454C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1458C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1466T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1513C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1514G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1527C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1550G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1552A>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1640G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1652C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1671C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*17G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1901A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1970A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1981C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*1986T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2081T>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*211T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2133C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2134G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2184T>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*24A>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2501C>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2519G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*251C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2611C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2800G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2847T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2857C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*286A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2980A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*2981G>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*492A>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*556C>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*607G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*680G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*703G>A Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*714A>G Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*887T>C Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • c.*986A>T Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ala192Val Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ala301Asp Single submitter ⚠
  • p.Ala331Glu Single submitter ⚠
  • p.Ala331Pro Single submitter ⚠
  • p.Ala346Thr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ala346Val Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ala42_Val45delinsAspPheTyrIle Single submitter
  • p.Arg147Lys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Arg147Thr Single submitter ⚠
  • p.Arg281Ser Single submitter ⚠
  • p.Arg40Gly Single submitter ⚠
  • p.Asn41Asp Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asn6Lys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Asp28= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Asp310Asn Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Cys245= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Cys284Tyr Single submitter ⚠
  • p.Gln104Leu Single submitter ⚠
  • p.Gln163= Single submitter
  • p.Gln180His Single submitter ⚠
  • p.Glu193Gln Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Glu246Lys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Glu319Lys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Glu3Lys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Gly114Ala Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly114Glu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly122Ser Single submitter ⚠
  • p.Gly12Val Single submitter ⚠
  • p.Gly158Glu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly229Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly266Asp Single submitter ⚠
  • p.Gly266Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly286Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Gly58Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.His252Gln Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.His52Leu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.His9Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ile299Thr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ile299Val Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ile31Asn Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ile31Phe Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ile341Met Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Leu265Pro Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Leu349Val Single submitter ⚠
  • p.Leu357del Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Leu46Phe Single submitter ⚠
  • p.Leu61Phe Single submitter ⚠
  • p.Lys290Met Single submitter ⚠
  • p.Lys354Arg Single submitter ⚠
  • p.Lys355Asn Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Phe177Leu Single submitter ⚠
  • p.Phe215Leu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Phe258Leu Single submitter ⚠
  • p.Phe294Leu Single submitter ⚠
  • p.Phe43Leu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Phe47Leu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro113Leu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro113Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro48Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Pro84Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ser136= Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser169Leu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ser196Asn Single submitter ⚠
  • p.Ser260Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ser277Phe Single submitter ⚠
  • p.Ser277Tyr Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ser330Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ser356Leu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ser356Pro Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Ser95Arg Single submitter ⚠
  • p.Thr111Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Thr123Lys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Thr194Ala Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Thr267Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Trp29Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Trp70Ser Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Trp86Arg Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Tyr128Cys Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Tyr343Asn Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val126Ile Single submitter ⚠
  • p.Val131Ile Single submitter ⚠
  • p.Val181Ile Single submitter ⚠
  • p.Val308Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val321Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val332Leu Single submitter ⚠
  • p.Val338Ile Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val33Glu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val348fs Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Val35Met Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val45Leu Single submitter glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Val57Ala Single submitter ⚠
  • p.Gln82Ter No assertion criteria
  • p.Leu230Pro No assertion criteria ⚠
  • p.Leu262del No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Ser356Ter No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr123Ile No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • p.Thr16Arg No assertion criteria glycogen storage disease due to glucose-6-phosphatase deficiency type IA ⚠
  • p.Tyr94Cys No assertion criteria G6PC1-related disorder ⚠