ATP6V0E2 — 20 ClinVar variants
All ClinVar germline ATP6V0E2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
20 Uncertain significance
Full ATP6V0E2 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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V0E2 p.Ala43Thr Uncertain significance Single submitter
- ATP6V0E2 p.Ala45Thr Uncertain significance Single submitter
- ATP6V0E2 p.Ala45Val Uncertain significance Single submitter
- ATP6V0E2 p.Gly21Val Uncertain significance Single submitter
- ATP6V0E2 p.Gly31Arg Uncertain significance Single submitter
- ATP6V0E2 p.Ile22Val Uncertain significance Single submitter
- ATP6V0E2 p.Thr39Ile Uncertain significance Single submitter
- ATP6V0E2 p.Tyr49His Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All ATP6V0E2 variants
Uncertain significance 20
- c.-17G>A Single submitter
- c.-29C>T Single submitter
- c.-32C>G Single submitter
- c.-41T>A Single submitter
- c.-47G>T Single submitter
- c.-62C>T Single submitter
- c.-9C>T Single submitter
- c.*84C>G Single submitter
- p.Ala43Thr Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala45Val Single submitter ⚠
- p.Gly21Val Single submitter ⚠
- p.Gly31Arg Single submitter ⚠
- p.Ile22Thr Single submitter ⚠
- p.Ile22Val Single submitter ⚠
- p.Met40Val Single submitter ⚠
- p.Phe13Leu Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Thr39Ile Single submitter ⚠
- p.Tyr49His Single submitter ⚠