ATP6V0B — 15 ClinVar variants
All ClinVar germline ATP6V0B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Likely benign · 14 Uncertain significance
Full ATP6V0B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V0B p.Arg129Gln Uncertain significance Single submitter
- ATP6V0B p.Cys97Ser Uncertain significance Single submitter
- ATP6V0B p.Gly187Ala Uncertain significance Single submitter
- ATP6V0B p.His128Arg Uncertain significance Single submitter
- ATP6V0B p.Ile54Thr Uncertain significance Single submitter
- ATP6V0B p.Phe189Leu Uncertain significance Single submitter
- ATP6V0B p.Ser9Cys Uncertain significance Single submitter
- ATP6V0B p.Thr42Met Uncertain significance Single submitter
- ATP6V0B p.Val179Met Uncertain significance Single submitter
- ATP6V0B p.Val63Phe Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All ATP6V0B variants
Likely benign 1
- c.591+126T>G Single submitter
Uncertain significance 14
- p.Arg129Gln Single submitter ⚠
- p.Arg129Trp Single submitter ⚠
- p.Cys97Ser Single submitter ⚠
- p.Gly187Ala Single submitter ⚠
- p.His128Arg Single submitter ⚠
- p.Ile54Thr Single submitter ⚠
- p.Ile71Val Single submitter ⚠
- p.Leu177Ile Single submitter ⚠
- p.Phe189Leu Single submitter ⚠
- p.Ser9Cys Single submitter ⚠
- p.Thr42Met Single submitter ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Val179Met Single submitter ⚠
- p.Val63Phe Single submitter ⚠