Sugi Variant

Sugi Variant/GCK

GCK — 1309 ClinVar variants

All ClinVar germline GCK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 416 flagged for review →

315 Pathogenic · 53 Pathogenic/Likely pathogenic · 277 Likely pathogenic · 134 Conflicting · 37 Benign · 46 Benign/Likely benign · 102 Likely benign · 345 Uncertain significance

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

⚑ Evidence disagreements 416

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 32

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

Predictors agree, ClinVar conflicts 52

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

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 175

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 175

Predictors split 153

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 153

All GCK variants

Pathogenic 315

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

Pathogenic/Likely pathogenic 53

  • c.1019+20G>A Multiple submitters maturity-onset diabetes of the young
  • c.208+2T>C Multiple submitters GCK-related disorder
  • c.209-1G>A Multiple submitters GCK-related disorder
  • c.364-1G>A Multiple submitters maturity-onset diabetes of the young
  • c.483+2_483+16del Multiple submitters maturity-onset diabetes of the young
  • c.483+2T>C Multiple submitters maturity-onset diabetes of the young type 2
  • c.488del Multiple submitters maturity-onset diabetes of the young
  • c.678_679+2del Multiple submitters maturity-onset diabetes of the young
  • c.680-1G>A Multiple submitters monogenic diabetes
  • c.864-2A>G Multiple submitters maturity-onset diabetes of the young type 2
  • p.Arg303Leu Multiple submitters maturity-onset diabetes of the young type 2
  • p.Arg369Pro Multiple submitters GCK-related disorder
  • p.Arg43Ser Multiple submitters ⚠
  • p.Arg447Gln Multiple submitters hyperinsulinemic hypoglycemia, familial, 3 ⚠
  • p.Arg447Gly Multiple submitters maturity-onset diabetes of the young ⚠
  • p.Arg7fs Multiple submitters GCK-related disorder
  • p.Asp132fs Multiple submitters maturity-onset diabetes of the young
  • p.Gln106Ter Multiple submitters GCK-related disorder
  • p.Gln323Ter Multiple submitters GCK-related disorder
  • p.Gln98fs Multiple submitters maturity-onset diabetes of the young
  • p.Glu70Lys Multiple submitters maturity-onset diabetes of the young type 2
  • p.Glu9Ter Multiple submitters maturity-onset diabetes of the young
  • p.Gly147fs Multiple submitters maturity-onset diabetes of the young
  • p.Gly193= Multiple submitters maturity-onset diabetes of the young
  • p.Gly223fs Multiple submitters maturity-onset diabetes of the young
  • p.Gly299Arg Multiple submitters maturity-onset diabetes of the young type 2
  • p.Gly328Ter Multiple submitters maturity-onset diabetes of the young
  • p.Gly44Ser Multiple submitters maturity-onset diabetes of the young type 2
  • p.His50Tyr Multiple submitters maturity-onset diabetes of the young type 2 ⚠
  • p.Ile159Val Multiple submitters monogenic diabetes ⚠
  • p.Ile293Arg Multiple submitters maturity-onset diabetes of the young type 2
  • p.Leu144fs Multiple submitters maturity-onset diabetes of the young
  • p.Leu164Pro Multiple submitters maturity-onset diabetes of the young type 2
  • p.Leu324Pro Multiple submitters maturity-onset diabetes of the young type 2
  • p.Lys291Ter Multiple submitters diabetes mellitus
  • p.Lys346fs Multiple submitters maturity-onset diabetes of the young type 2
  • p.Met107fs Multiple submitters GCK-related disorder
  • p.Met121fs Multiple submitters permanent neonatal diabetes mellitus 1
  • p.Met251Ile Multiple submitters maturity-onset diabetes of the young
  • p.Pro59Ser Multiple submitters maturity-onset diabetes of the young type 2
  • p.Ser396fs Multiple submitters GCK-related disorder
  • p.Ser453Leu Multiple submitters type 2 diabetes mellitus
  • p.Ser453Trp Multiple submitters GCK-related disorder
  • p.Thr118fs Multiple submitters maturity-onset diabetes of the young
  • p.Thr206Met Multiple submitters GCK-related disorder
  • p.Thr206Pro Multiple submitters monogenic diabetes
  • p.Trp257Arg Multiple submitters maturity-onset diabetes of the young
  • p.Trp257Ter Multiple submitters monogenic diabetes
  • p.Trp99fs Multiple submitters maturity-onset diabetes of the young type 2
  • p.Tyr214Ter Multiple submitters maturity-onset diabetes of the young type 2
  • p.Tyr273Ter Multiple submitters maturity-onset diabetes of the young
  • p.Tyr289Cys Multiple submitters maturity-onset diabetes of the young type 2
  • p.Val244Gly Multiple submitters maturity-onset diabetes of the young type 2

Likely pathogenic 277

Conflicting classifications of pathogenicity 134

  • c.1019+8G>C Single submitter
  • c.1253+12C>T Single submitter Transient Neonatal Diabetes, Recessive
  • c.208+11G>A Single submitter Transient Neonatal Diabetes, Recessive
  • c.208+16C>T Single submitter maturity-onset diabetes of the young
  • c.208+9T>A Single submitter maturity-onset diabetes of the young
  • c.363+10G>A Single submitter Transient Neonatal Diabetes, Recessive
  • c.363+6C>A Single submitter maturity-onset diabetes of the young
  • c.363+9C>T Single submitter Transient Neonatal Diabetes, Recessive
  • c.364-13G>A Single submitter maturity-onset diabetes of the young
  • c.364-14C>T Single submitter type 2 diabetes mellitus
  • c.364-8del Single submitter maturity-onset diabetes of the young type 2
  • c.45+11C>G Single submitter maturity-onset diabetes of the young
  • c.483+10G>A Single submitter maturity-onset diabetes of the young
  • c.483+26C>A Single submitter type 2 diabetes mellitus
  • c.483+3G>A Single submitter maturity-onset diabetes of the young type 2
  • c.579+8G>A Single submitter maturity-onset diabetes of the young
  • c.580-11C>T Single submitter maturity-onset diabetes of the young type 2
  • c.680-14G>C Single submitter Transient Neonatal Diabetes, Recessive
  • c.680-15C>A Single submitter maturity-onset diabetes of the young
  • c.680-19C>T Single submitter
  • c.863+3A>G Single submitter maturity-onset diabetes of the young
  • c.864-159_864-149del Single submitter maturity-onset diabetes of the young
  • c.-102G>A Single submitter Transient Neonatal Diabetes, Recessive
  • c.-135G>A Single submitter maturity-onset diabetes of the young
  • c.-137C>G Single submitter Transient Neonatal Diabetes, Recessive
  • c.-17C>T Single submitter maturity-onset diabetes of the young
  • c.-279C>T Single submitter Transient Neonatal Diabetes, Recessive
  • c.-396C>G Single submitter hyperinsulinemic hypoglycemia, familial, 3
  • c.-452G>A Single submitter Transient Neonatal Diabetes, Recessive
  • c.-453C>T Single submitter Transient Neonatal Diabetes, Recessive
  • c.-455A>G Single submitter Transient Neonatal Diabetes, Recessive
  • c.-456G>A Single submitter Transient Neonatal Diabetes, Recessive
  • c.-487C>G Single submitter maturity-onset diabetes of the young
  • c.-5T>C Single submitter maturity-onset diabetes of the young
  • c.*11C>T Single submitter maturity-onset diabetes of the young
  • c.*270C>T Single submitter maturity-onset diabetes of the young type 2
  • c.*548G>A Single submitter Transient Neonatal Diabetes, Recessive
  • c.*678G>T Single submitter Transient Neonatal Diabetes, Recessive
  • c.*721C>T Single submitter Transient Neonatal Diabetes, Recessive
  • c.*723A>G Single submitter maturity-onset diabetes of the young type 2
  • c.*764C>T Single submitter maturity-onset diabetes of the young type 2
  • c.*844A>C Single submitter Transient Neonatal Diabetes, Recessive
  • p.Ala176Glu Single submitter GCK-related disorder ⚠
  • p.Ala232Thr Single submitter maturity-onset diabetes of the young ⚠
  • p.Ala454dup Single submitter maturity-onset diabetes of the young
  • p.Arg36Pro Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Arg403Gly Single submitter maturity-onset diabetes of the young ⚠
  • p.Arg422Pro Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Arg422Trp Single submitter maturity-onset diabetes of the young ⚠
  • p.Arg43Leu Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Arg46Met Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Asn204Asp Single submitter ⚠
  • p.Asn240Asp Single submitter maturity-onset diabetes of the young type 2
  • p.Asn254His Single submitter GCK-related disorder ⚠
  • p.Asn283fs Single submitter maturity-onset diabetes of the young ⚠
  • p.Asp198Ala Single submitter ⚠
  • p.Asp274His Single submitter maturity-onset diabetes of the young ⚠
  • p.Asp278Val Single submitter maturity-onset diabetes of the young ⚠
  • p.Asp409Tyr Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Asp4fs Single submitter hyperinsulinemic hypoglycemia, familial, 3 ⚠
  • p.Cys252Phe Single submitter ⚠
  • p.Gln106Pro Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Glu196Gly Single submitter maturity-onset diabetes of the young ⚠
  • p.Glu245= Single submitter maturity-onset diabetes of the young
  • p.Glu245Gly Single submitter maturity-onset diabetes of the young ⚠
  • p.Glu256Asp Single submitter maturity-onset diabetes of the young ⚠
  • p.Glu279Gly Single submitter hyperinsulinemic hypoglycemia, familial, 3 ⚠
  • p.Glu290Lys Single submitter maturity-onset diabetes of the young ⚠
  • p.Glu442Lys Single submitter GCK-related disorder ⚠
  • p.Glu70Gln Single submitter maturity-onset diabetes of the young ⚠
  • p.Gly162Asp Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Gly162Ser Single submitter maturity-onset diabetes of the young ⚠
  • p.Gly227Asp Single submitter maturity-onset diabetes of the young ⚠
  • p.Gly229fs Single submitter maturity-onset diabetes of the young ⚠
  • p.Gly258= Single submitter maturity-onset diabetes of the young
  • p.Gly356= Single submitter maturity-onset diabetes of the young
  • p.Gly407Ser Single submitter maturity-onset diabetes of the young ⚠
  • p.Gly44Cys Single submitter GCK-related disorder ⚠
  • p.Gly72Glu Single submitter GCK-related disorder ⚠
  • p.Ile159Asn Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Ile159Met Single submitter GCK-related disorder ⚠
  • p.Ile225Met Single submitter maturity-onset diabetes of the young ⚠
  • p.Ile225Thr Single submitter ⚠
  • p.Ile293Thr Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Leu185Arg Single submitter maturity-onset diabetes of the young ⚠
  • p.Leu25Arg Single submitter maturity-onset diabetes of the young ⚠
  • p.Leu306Pro Single submitter maturity-onset diabetes of the young ⚠
  • p.Leu315Phe Single submitter maturity-onset diabetes of the young ⚠
  • p.Leu430= Single submitter
  • p.Leu45Pro Single submitter maturity-onset diabetes of the young ⚠
  • p.Leu79= Single submitter type 2 diabetes mellitus
  • p.Lys143Leu Single submitter maturity-onset diabetes of the young
  • p.Lys15Arg Single submitter GCK-related disorder ⚠
  • p.Lys291Glu Single submitter ⚠
  • p.Lys39del Single submitter monogenic diabetes
  • p.Met197Thr Single submitter maturity-onset diabetes of the young ⚠
  • p.Met210_Ile211insMet Single submitter maturity-onset diabetes of the young
  • p.Met34Ile Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Met41Thr Single submitter monogenic diabetes ⚠
  • p.Met41Val Single submitter maturity-onset diabetes of the young ⚠
  • p.Phe123Leu Single submitter ⚠
  • p.Phe123Ser Single submitter ⚠
  • p.Phe133Ile Single submitter maturity-onset diabetes of the young ⚠
  • p.Phe133Leu Single submitter maturity-onset diabetes of the young ⚠
  • p.Phe316Val Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Phe334_Val335delinsLeuMet Single submitter maturity-onset diabetes of the young
  • p.Phe438Val Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Pro145= Single submitter Transient Neonatal Diabetes, Recessive
  • p.Pro284= Single submitter
  • p.Pro59Ala Single submitter ⚠
  • p.Ser131= Single submitter maturity-onset diabetes of the young type 2
  • p.Ser340Gly Single submitter maturity-onset diabetes of the young ⚠
  • p.Ser340Ile Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Ser375Tyr Single submitter ⚠
  • p.Ser69= Single submitter maturity-onset diabetes of the young
  • p.Thr49Ile Single submitter ⚠
  • p.Trp99Arg Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Tyr234Cys Single submitter maturity-onset diabetes of the young ⚠
  • p.Val154Ala Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Val181Ala Single submitter maturity-onset diabetes of the young ⚠
  • p.Val199Met Single submitter maturity-onset diabetes of the young ⚠
  • p.Val203= Single submitter maturity-onset diabetes of the young
  • p.Val244Glu Single submitter maturity-onset diabetes of the young ⚠
  • p.Val244Met Single submitter maturity-onset diabetes of the young ⚠
  • p.Val253Ala Single submitter maturity-onset diabetes of the young type 2 ⚠
  • p.Val253Gly Single submitter maturity-onset diabetes of the young ⚠
  • p.Val253Ile Single submitter ⚠
  • p.Val302Leu Single submitter ⚠
  • p.Val305Gly Single submitter maturity-onset diabetes of the young ⚠
  • p.Val335fs Single submitter maturity-onset diabetes of the young ⚠
  • p.Val374Leu Single submitter ⚠
  • p.Val406Ala Single submitter GCK-related disorder ⚠
  • p.Val408Met Single submitter GCK-related disorder ⚠
  • p.Val71= Single submitter Transient Neonatal Diabetes, Recessive

Benign 37

Benign/Likely benign 46

  • c.1019+18G>A Multiple submitters type 2 diabetes mellitus
  • c.208+17G>A Multiple submitters maturity-onset diabetes of the young
  • c.209-8G>A Multiple submitters Transient Neonatal Diabetes, Recessive
  • c.363+19G>A Multiple submitters
  • c.364-18A>G Multiple submitters type 2 diabetes mellitus
  • c.46-12C>T Multiple submitters Transient Neonatal Diabetes, Recessive
  • c.46-4438C>T Multiple submitters maturity-onset diabetes of the young
  • c.46-4621C>T Multiple submitters maturity-onset diabetes of the young
  • c.46-4952G>A Multiple submitters maturity-onset diabetes of the young
  • c.46-5594A>G Multiple submitters
  • c.46-5598A>T Multiple submitters type 2 diabetes mellitus
  • c.46-5883dup Multiple submitters maturity-onset diabetes of the young
  • c.483+14A>G Multiple submitters maturity-onset diabetes of the young
  • c.483+7C>T Multiple submitters
  • c.483+8G>A Multiple submitters
  • c.579+12C>G Multiple submitters hyperinsulinemic hypoglycemia, familial, 3
  • c.579+29G>T Multiple submitters
  • c.863+15del Multiple submitters
  • c.864-105G>A Multiple submitters maturity-onset diabetes of the young
  • c.-215A>G Multiple submitters Transient Neonatal Diabetes, Recessive
  • c.-217C>G Multiple submitters Transient Neonatal Diabetes, Recessive
  • c.-267G>T Multiple submitters Transient Neonatal Diabetes, Recessive
  • c.*297T>G Multiple submitters maturity-onset diabetes of the young
  • c.*356G>A Multiple submitters maturity-onset diabetes of the young type 2
  • c.*510C>T Multiple submitters maturity-onset diabetes of the young type 2
  • c.*735C>A Multiple submitters maturity-onset diabetes of the young type 2
  • c.*847G>A Multiple submitters maturity-onset diabetes of the young
  • c.*92C>A Multiple submitters maturity-onset diabetes of the young type 2
  • p.Arg36= Multiple submitters maturity-onset diabetes of the young
  • p.Arg43= Multiple submitters maturity-onset diabetes of the young
  • p.Arg46= Multiple submitters maturity-onset diabetes of the young
  • p.Asp113= Multiple submitters type 2 diabetes mellitus
  • p.Asp187= Multiple submitters maturity-onset diabetes of the young
  • p.Asp278= Multiple submitters hyperinsulinemic hypoglycemia, familial, 3
  • p.Asp3= Multiple submitters maturity-onset diabetes of the young type 2
  • p.Cys220= Multiple submitters maturity-onset diabetes of the young
  • p.Leu88= Multiple submitters maturity-onset diabetes of the young
  • p.Lys90= Multiple submitters hyperinsulinemic hypoglycemia, familial, 3
  • p.Pro111= Multiple submitters maturity-onset diabetes of the young
  • p.Pro66= Multiple submitters maturity-onset diabetes of the young
  • p.Ser411= Multiple submitters maturity-onset diabetes of the young
  • p.Thr116= Multiple submitters maturity-onset diabetes of the young
  • p.Thr206= Multiple submitters Transient Neonatal Diabetes, Recessive
  • p.Tyr215= Multiple submitters Transient Neonatal Diabetes, Recessive
  • p.Tyr61= Multiple submitters maturity-onset diabetes of the young
  • p.Val200= Multiple submitters maturity-onset diabetes of the young

Likely benign 102

Uncertain significance 345

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