Sugi Variant

Sugi Variant/SLC2A2

SLC2A2 — 382 ClinVar variants

All ClinVar germline SLC2A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

36 Pathogenic · 6 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 14 Conflicting · 40 Benign · 7 Benign/Likely benign · 93 Likely benign · 168 Uncertain significance

Full SLC2A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 25

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

All SLC2A2 variants

Pathogenic 36

  • c.963+1G>A Multiple submitters type 2 diabetes mellitus
  • p.Arg228Ter Multiple submitters type 2 diabetes mellitus
  • p.Arg301Ter Multiple submitters type 2 diabetes mellitus
  • p.Arg365Ter Multiple submitters type 2 diabetes mellitus
  • c.1065_1068+2del Single submitter SLC2A2-related disorder
  • c.1170+1G>T Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.613-1G>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.775+1del Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Arg53Ter Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Asn349fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Cys453Ter Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Glu209Ter Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly162fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly223fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly318Arg Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Met1Arg Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Met1Thr Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Phe144fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Phe237fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Phe427fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Pro49fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Pro80fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ser112fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Thr2fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Trp117Ter Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Trp395fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Tyr324fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Tyr340Ter Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Tyr464Ter Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.109-2A>G No assertion criteria glycogen storage disease due to GLUT2 deficiency
  • p.Gln287Ter No assertion criteria glycogen storage disease due to GLUT2 deficiency
  • p.Leu389Pro No assertion criteria glycogen storage disease due to GLUT2 deficiency
  • p.Leu46fs No assertion criteria glycogen storage disease due to GLUT2 deficiency
  • p.Trp420Ter No assertion criteria glycogen storage disease due to GLUT2 deficiency
  • p.Val351fs No assertion criteria glycogen storage disease due to GLUT2 deficiency
  • p.Val423Glu No assertion criteria glycogen storage disease due to GLUT2 deficiency

Pathogenic/Likely pathogenic 6

  • c.497-2A>G Multiple submitters type 2 diabetes mellitus
  • c.775+1G>A Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Glu84Ter Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Ile61fs Multiple submitters type 2 diabetes mellitus
  • p.Leu153_Ile154del Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Pro417Leu Multiple submitters glycogen storage disease due to GLUT2 deficiency

Likely pathogenic 18

  • p.Arg158Ser Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Val197Leu Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.1068+1G>A Single submitter
  • c.496+2T>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.613-1G>T Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.613-7T>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala195Asp Single submitter SLC2A2-related disorder
  • p.Cys453fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Glu3Ter Single submitter SLC2A2-related disorder
  • p.Glu66Ter Single submitter SLC2A2-related disorder
  • p.Gly186fs Single submitter SLC2A2-related disorder
  • p.Gly20Asp Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly416Ser Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Leu140fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Leu224fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Lys490fs Single submitter SLC2A2-related disorder
  • p.Trp444Arg Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Val11fs Single submitter SLC2A2-related disorder

Conflicting classifications of pathogenicity 14

  • c.372-4T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.612+10C>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*83A>T Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala363Ser Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Arg53Gln Single submitter type 2 diabetes mellitus ⚠
  • p.Glu83Lys Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Gly157Arg Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ile39del Single submitter type 2 diabetes mellitus
  • p.Ile402Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu478Val Single submitter type 2 diabetes mellitus ⚠
  • p.Phe479= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ser284= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Thr198Met Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Val388= Single submitter glycogen storage disease due to GLUT2 deficiency

Benign 40

Benign/Likely benign 7

  • c.496+7_496+8insCTCA Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.963+14C>T Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.*234C>A Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Leu221= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Pro68Leu Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Tyr72= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Val101Ile Multiple submitters monogenic diabetes ⚠

Likely benign 93

  • c.109-19A>G Multiple submitters type 2 diabetes mellitus
  • c.1374+7A>G Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.16-20C>G Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.371+19T>C Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.372-16C>T Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.496+10A>T Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.496+6_496+7dup Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.963+18C>T Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.964-15G>A Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Ile196= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Leu359= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Lys54= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Pro417= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Pro80= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Thr13= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.1068+15T>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.1068+7C>T Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.108+15T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.108+16A>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.108+20G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.1170+11T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.1170+18A>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.1171-5dup Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.16-11G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.16-121C>T Single submitter
  • c.16-12C>T Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.16-9C>G Single submitter
  • c.372-20del Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.496+20A>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.496+45_496+46dup Single submitter
  • c.496+7_496+8insCTCACACA Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.496+7_496+8insCTCACACACA Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.496+7_496+8insCTCACACACACACACACA Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.496+8AC[11] Single submitter
  • c.496+8AC[17] Single submitter
  • c.496+8AC[23] Single submitter
  • c.496+8AC[24] Single submitter
  • c.612+7del Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.613-7T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.775+19T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.775+9G>A Single submitter
  • c.776-12T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.776-8T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.963+20C>T Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.-2C>A Single submitter
  • c.*1260A>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*486T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala105= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala183Ser Single submitter Inborn genetic diseases
  • p.Ala183Thr Single submitter
  • p.Ala333= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala496= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala520= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala89= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Asn274= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Asn349= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Asn443= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Asp251= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Glu425= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly207= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly346= Single submitter
  • p.Gly375= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly386= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.His192= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.His219= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.His311= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ile418= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Leu167= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Leu250= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Leu387= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Leu478= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Leu96= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Lys490= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Lys502= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Phe454= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Phe476= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Pro338= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ser103= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ser203= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ser317= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Thr182= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Thr198Lys Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Thr332= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Thr480= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Tyr164= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Tyr398= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Val254= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Val306= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Val423= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Val48= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ile343= No assertion criteria SLC2A2-related disorder
  • p.Leu10= No assertion criteria SLC2A2-related disorder
  • p.Leu67= No assertion criteria SLC2A2-related disorder

Uncertain significance 168

  • c.1373_1374+2dup Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • c.*568A>T Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Ala111Val Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Ala347Thr Multiple submitters type 2 diabetes mellitus ⚠
  • p.Ala458Val Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ala497Lys Multiple submitters type 2 diabetes mellitus
  • p.Ala497Val Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Arg228Gln Multiple submitters type 2 diabetes mellitus ⚠
  • p.Asp268del Multiple submitters type 2 diabetes mellitus
  • p.Asp27Val Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Asp65Glu Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Cys165= Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Glu522Gly Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Gly177Ser Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.His44Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile248Asn Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ile291Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Ile322Met Multiple submitters Inborn genetic diseases
  • p.Ile381Asn Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Leu305Pro Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Leu390Arg Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Met174Thr Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Met174Val Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ser63Thr Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Thr332Met Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Thr69Lys Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Thr7Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr164del Multiple submitters glycogen storage disease due to GLUT2 deficiency
  • p.Tyr247His Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr300His Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Val197Ile Multiple submitters type 2 diabetes mellitus ⚠
  • p.Val289Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Val45Asp Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Val524Met Multiple submitters glycogen storage disease due to GLUT2 deficiency ⚠
  • c.1069-10A>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.1069-7G>T Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.1375-11T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.1375-20T>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.15+6G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.496+6T>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.-48G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*1004G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*1086G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*1164T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*11C>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*1201T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*1207G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*1303T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*1420T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*1531A>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*153A>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*166G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*170G>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*254T>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*698T>A Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*726T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*796T>C Single submitter glycogen storage disease due to GLUT2 deficiency
  • c.*960T>G Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala127Ser Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ala139Thr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ala183Val Single submitter ⚠
  • p.Ala187Thr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ala33Thr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ala347Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala424Thr Single submitter ⚠
  • p.Ala440del Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Ala497Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala497Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala506fs Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Arg228Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg301Gln Single submitter ⚠
  • p.Arg301Leu Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Arg366His Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Arg432Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg432His Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Asn297Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn32Ser Single submitter ⚠
  • p.Asn391Ser Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Asn57Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn62Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn75Thr Single submitter Inborn genetic diseases ⚠
  • p.Asp251His Single submitter Inborn genetic diseases ⚠
  • p.Asp268Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp4His Single submitter monogenic diabetes ⚠
  • p.Glu241Gly Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Glu279Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu281Lys Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Glu361Asp Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Glu361Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu514Lys Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Gly119Arg Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Gly148Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly177Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly189= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly199= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly207Asp Single submitter ⚠
  • p.Gly20Cys Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Gly213= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Gly226Val Single submitter Inborn genetic diseases ⚠
  • p.Gly25Ala Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Gly25Arg Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Gly321Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly471Ala Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ile15Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile304Val Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ile371Phe Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ile38Met Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ile449Thr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ile61Thr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Leu129Ile Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Leu194Val Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Leu236Phe Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Leu294His Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Leu359Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu406Arg Single submitter ⚠
  • p.Leu468Arg Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Leu67Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu67Pro Single submitter Inborn genetic diseases ⚠
  • p.Lys278Thr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Lys488Arg Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Lys510Asn Single submitter Inborn genetic diseases ⚠
  • p.Met142Lys Single submitter Inborn genetic diseases ⚠
  • p.Met350Arg Single submitter Inborn genetic diseases ⚠
  • p.Met373Thr Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Met383Thr Single submitter Inborn genetic diseases ⚠
  • p.Met74Val Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Phe238Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe24Val Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Phe377Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe393Leu Single submitter ⚠
  • p.Phe407= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Phe499Leu Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Phe517Leu Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Phe517Tyr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Pro240Gln Single submitter Inborn genetic diseases ⚠
  • p.Pro303Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro34Thr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Pro417Gln Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Pro433Leu Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Pro463His Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Pro509Gln Single submitter ⚠
  • p.Pro76Ala Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ser161Leu Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ser259Asn Single submitter ⚠
  • p.Ser397Arg Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ser409Cys Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ser40Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser491Thr Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Ser503Thr Single submitter Inborn genetic diseases ⚠
  • p.Thr13Ser Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Thr296Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr327Ile Single submitter ⚠
  • p.Thr523Ser Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Thr86Ser Single submitter Inborn genetic diseases ⚠
  • p.Tyr245His Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Tyr26His Single submitter type 2 diabetes mellitus ⚠
  • p.Tyr324Cys Single submitter monogenic diabetes ⚠
  • p.Tyr42His Single submitter Inborn genetic diseases ⚠
  • p.Tyr456His Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Tyr464Cys Single submitter Inborn genetic diseases ⚠
  • p.Val11Asp Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Val137Leu Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Val14Leu Single submitter Inborn genetic diseases ⚠
  • p.Val269Ala Single submitter Inborn genetic diseases ⚠
  • p.Val312= Single submitter glycogen storage disease due to GLUT2 deficiency
  • p.Val378Ala Single submitter Inborn genetic diseases ⚠
  • p.Val423Leu Single submitter glycogen storage disease due to GLUT2 deficiency ⚠
  • p.Val450Ala Single submitter glycogen storage disease due to GLUT2 deficiency