GABRG3 — 49 ClinVar variants
All ClinVar germline GABRG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Pathogenic · 4 Benign · 4 Likely benign · 40 Uncertain significance
Full GABRG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GABRG3 p.Ala2Thr Uncertain significance Single submitter
- GABRG3 p.Arg134Cys Uncertain significance Single submitter
- GABRG3 p.Arg20Gly Uncertain significance Single submitter
- GABRG3 p.Asp410Gly Uncertain significance Single submitter
- GABRG3 p.Asp46Asn Uncertain significance Single submitter
- GABRG3 p.Gln398Lys Uncertain significance Single submitter
- GABRG3 p.Glu399Lys Uncertain significance Single submitter
- GABRG3 p.Gly83Ala Uncertain significance Single submitter
- GABRG3 p.Ile232Val Uncertain significance Single submitter
- GABRG3 p.Ile265Val Uncertain significance Single submitter
- GABRG3 p.Ile364Val Uncertain significance Single submitter
- GABRG3 p.Leu378Pro Uncertain significance Single submitter
- GABRG3 p.Leu391Ser Uncertain significance Single submitter
- GABRG3 p.Met332Arg Uncertain significance Single submitter
- GABRG3 p.Met381Ile Uncertain significance Single submitter
- GABRG3 p.Met381Thr Uncertain significance Single submitter
- GABRG3 p.Met388Val Uncertain significance Single submitter
- GABRG3 p.Phe189Leu Uncertain significance Single submitter
- GABRG3 p.Pro308Ala Uncertain significance Single submitter
- GABRG3 p.Pro384Arg Uncertain significance Single submitter
- GABRG3 p.Ser342Ile Uncertain significance Single submitter
- GABRG3 p.Ser452Thr Uncertain significance Single submitter
- GABRG3 p.Thr347Ser Uncertain significance Single submitter
- GABRG3 p.Tyr406Cys Uncertain significance Single submitter
- GABRG3 p.Val462Ala Uncertain significance Single submitter
- GABRG3 p.Val72Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- GABRG3 p.Ala315Ser Uncertain significance Single submitter
- GABRG3 p.Arg433Cys Uncertain significance Single submitter
- GABRG3 p.Asn52Ser Uncertain significance Single submitter
- GABRG3 p.Glu198Ala Uncertain significance Single submitter
- GABRG3 p.Gly193Ala Uncertain significance Single submitter
- GABRG3 p.Gly427Glu Uncertain significance Single submitter
- GABRG3 p.Ser250Gly Uncertain significance Single submitter
- GABRG3 p.Ser341Cys Uncertain significance Single submitter
- GABRG3 p.Ser452Phe Uncertain significance Single submitter
All GABRG3 variants
Pathogenic 1
- p.Asn375= Single submitter Angelman syndrome
Benign 4
- c.270+8G>A Multiple submitters
- p.Glu57= Multiple submitters
- p.Ile232= Multiple submitters
- p.Ser250= Multiple submitters
Likely benign 4
- p.Ile389Thr Single submitter
- p.Val47Met Single submitter
- p.Pro365Ser No assertion criteria GABRG3-related disorder
- p.Val233Met No assertion criteria GABRG3-related disorder
Uncertain significance 40
- c.491+1G>A Single submitter
- p.Ala2Thr Single submitter ⚠
- p.Ala315Ser Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg20Gly Single submitter ⚠
- p.Arg433Cys Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Asp410Gly Single submitter ⚠
- p.Asp46Asn Single submitter ⚠
- p.Gln398Lys Single submitter ⚠
- p.Glu198Ala Single submitter ⚠
- p.Glu399Lys Single submitter ⚠
- p.Glu407Val Single submitter
- p.Gly193Ala Single submitter ⚠
- p.Gly427Glu Single submitter ⚠
- p.Gly83Ala Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile265Val Single submitter ⚠
- p.Ile364Val Single submitter ⚠
- p.Leu378Pro Single submitter ⚠
- p.Leu391Ser Single submitter ⚠
- p.Lys158Glu Single submitter
- p.Met332Arg Single submitter ⚠
- p.Met381Ile Single submitter ⚠
- p.Met381Thr Single submitter ⚠
- p.Met388Val Single submitter ⚠
- p.Phe189Leu Single submitter ⚠
- p.Pro308Ala Single submitter ⚠
- p.Pro384Arg Single submitter ⚠
- p.Ser250Gly Single submitter ⚠
- p.Ser341Cys Single submitter ⚠
- p.Ser342Ile Single submitter ⚠
- p.Ser452Phe Single submitter ⚠
- p.Ser452Thr Single submitter ⚠
- p.Thr347Ser Single submitter ⚠
- p.Trp272Ter Single submitter
- p.Tyr406Cys Single submitter ⚠
- p.Val462Ala Single submitter ⚠
- p.Val72Ile Single submitter ⚠
- p.Thr112= No assertion criteria