ATP6V1G2 — 14 ClinVar variants
All ClinVar germline ATP6V1G2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Likely benign · 13 Uncertain significance
Full ATP6V1G2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V1G2 p.Ala36Thr Uncertain significance Single submitter
- ATP6V1G2 p.Arg78Gly Uncertain significance Single submitter
- ATP6V1G2 p.Arg94His Uncertain significance Single submitter
- ATP6V1G2 p.Asn113Asp Uncertain significance Single submitter
- ATP6V1G2 p.Gly101Asp Uncertain significance Single submitter
- ATP6V1G2 p.His53Arg Uncertain significance Single submitter
- ATP6V1G2 p.Leu100Pro Uncertain significance Single submitter
- ATP6V1G2 p.Met42Val Uncertain significance Single submitter
- ATP6V1G2 p.Val106Asp Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ATP6V1G2 variants
Likely benign 1
- p.Glu45Asp Single submitter
Uncertain significance 13
- p.Ala36Thr Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg78Gly Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn113Asp Single submitter ⚠
- p.Asn91Lys Single submitter ⚠
- p.Glu74Gly Single submitter
- p.Gly101Asp Single submitter ⚠
- p.His53Arg Single submitter ⚠
- p.Leu100Pro Single submitter ⚠
- p.Met42Val Single submitter ⚠
- p.Ser86Cys Single submitter ⚠
- p.Val106Asp Single submitter ⚠