GSK3B — 89 ClinVar variants
All ClinVar germline GSK3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
6 Pathogenic · 1 Likely pathogenic · 19 Benign · 1 Benign/Likely benign · 29 Likely benign · 33 Uncertain significance
Full GSK3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GSK3B p.Ala170Thr Uncertain significance Single submitter
- GSK3B p.Ala414Val Uncertain significance Single submitter
- GSK3B p.Arg167Gly Uncertain significance Single submitter
- GSK3B p.Arg180Trp Uncertain significance Single submitter
- GSK3B p.Asp181Tyr Uncertain significance Single submitter
- GSK3B p.Asp77Tyr Uncertain significance Single submitter
- GSK3B p.Gly353Val Uncertain significance Single submitter
- GSK3B p.Leu320Pro Uncertain significance Single submitter
- GSK3B p.Lys303Thr Uncertain significance Single submitter
- GSK3B p.Lys85Asn Uncertain significance Single submitter
- GSK3B p.Lys91Arg Uncertain significance Single submitter
- GSK3B p.Met284Ile Uncertain significance Single submitter
- GSK3B p.Pro380Ser Uncertain significance Single submitter
- GSK3B p.Thr395Ala Uncertain significance Single submitter
- GSK3B p.Thr57Ile Uncertain significance Single submitter
- GSK3B p.Tyr222His Uncertain significance Single submitter
- GSK3B p.Val348Ile Uncertain significance Single submitter
All GSK3B variants
Pathogenic 6
- p.Arg167Ter Single submitter
- p.Arg328Ter Single submitter
- p.Arg354Ter Single submitter
- p.Gln18Ter Single submitter
- p.Gln295Ter Single submitter
- p.Lys159fs Single submitter intellectual disability
Likely pathogenic 1
- p.Arg306Ter Single submitter
Benign 19
- c.1097-185A>T Multiple submitters
- c.282+69T>C Multiple submitters
- c.283-68G>A Multiple submitters
- c.814-148T>C Multiple submitters
- c.89-85A>G Multiple submitters
- c.-1001T>C Multiple submitters
- p.Ala397= Multiple submitters
- p.Gly65= Multiple submitters
- p.Pro357= Multiple submitters
- c.478-41A>G Single submitter
- c.609-157T>C Single submitter
- c.715+202A>C Single submitter
- c.813+121G>A Single submitter
- c.89-116dup Single submitter
- c.89-150A>T Single submitter
- c.89-185G>A Single submitter
- c.909+209T>C Single submitter
- c.909+227G>A Single submitter
- c.910-3238A>T Single submitter
Benign/Likely benign 1
- p.Thr152= Multiple submitters
Likely benign 29
- p.Asp33= Multiple submitters
- c.1096+19C>T Single submitter
- c.1097-4A>G Single submitter
- c.1195+9G>A Single submitter
- c.1196-21_1196-20del Single submitter
- c.477+19A>G Single submitter
- c.478-10T>C Single submitter
- c.478-7A>C Single submitter
- c.609-16A>T Single submitter
- c.715+200del Single submitter
- c.716-9T>C Single submitter
- c.813+9G>C Single submitter
- c.814-20A>G Single submitter
- c.88+11G>A Single submitter
- c.89-19dup Single submitter
- c.909+19dup Single submitter
- c.910-6C>T Single submitter
- c.*10A>C Single submitter
- c.*7C>G Single submitter
- p.Ala334= Single submitter
- p.Gln19= Single submitter
- p.Gln295= Single submitter
- p.Glu290= Single submitter
- p.Gly244= Single submitter
- p.Ile228= Single submitter
- p.Phe360= Single submitter
- p.Pro16= Single submitter
- p.Pro184= Single submitter
- p.Pro391= Single submitter
Uncertain significance 33
- c.910-2987C>T Multiple submitters dilated cardiomyopathy
- c.1097-1del Single submitter
- c.282+2dup Single submitter
- c.367-11A>G Single submitter
- c.713_715+2del Single submitter
- c.910-3002T>G Single submitter
- c.910-3007G>A Single submitter
- p.Ala170Thr Single submitter ⚠
- p.Ala414Val Single submitter ⚠
- p.Arg167Gly Single submitter ⚠
- p.Arg180Trp Single submitter ⚠
- p.Arg209Ter Single submitter
- p.Arg383Trp Single submitter
- p.Asp181Tyr Single submitter ⚠
- p.Asp77Tyr Single submitter ⚠
- p.Gly353Val Single submitter ⚠
- p.His106_Cys107insTer Single submitter
- p.Leu320Pro Single submitter ⚠
- p.Lys271= Single submitter
- p.Lys303Thr Single submitter ⚠
- p.Lys85Asn Single submitter ⚠
- p.Lys91Arg Single submitter ⚠
- p.Met284fs Single submitter
- p.Met284Ile Single submitter ⚠
- p.Pro325fs Single submitter
- p.Pro380Ser Single submitter ⚠
- p.Thr326fs Single submitter
- p.Thr395Ala Single submitter ⚠
- p.Thr43Ala Single submitter
- p.Thr57Ile Single submitter ⚠
- p.Tyr222His Single submitter ⚠
- p.Val28fs Single submitter
- p.Val348Ile Single submitter ⚠