ATP6V1E2 — 27 ClinVar variants
All ClinVar germline ATP6V1E2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Likely benign · 26 Uncertain significance
Full ATP6V1E2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V1E2 p.Arg87Gln Uncertain significance Single submitter
- ATP6V1E2 p.Gln122Arg Uncertain significance Single submitter
- ATP6V1E2 p.Leu90Phe Uncertain significance Single submitter
- ATP6V1E2 p.Met156Ile Uncertain significance Single submitter
- ATP6V1E2 p.Met156Val Uncertain significance Single submitter
- ATP6V1E2 p.Met213Ile Uncertain significance Single submitter
- ATP6V1E2 p.Met213Thr Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- ATP6V1E2 p.Ala178Gly Uncertain significance Single submitter
- ATP6V1E2 p.Ala79Thr Uncertain significance Single submitter
- ATP6V1E2 p.Ala79Val Uncertain significance Single submitter
- ATP6V1E2 p.Arg135His Uncertain significance Single submitter
- ATP6V1E2 p.Arg199Gln Uncertain significance Single submitter
- ATP6V1E2 p.Arg44Cys Uncertain significance Single submitter
- ATP6V1E2 p.Arg50Gln Uncertain significance Single submitter
- ATP6V1E2 p.Arg80Lys Uncertain significance Single submitter
- ATP6V1E2 p.Asn221Lys Uncertain significance Single submitter
- ATP6V1E2 p.Asp31Gly Uncertain significance Single submitter
- ATP6V1E2 p.Glu182Ala Uncertain significance Single submitter
- ATP6V1E2 p.Gly217Ser Uncertain significance Single submitter
- ATP6V1E2 p.Ile64Thr Uncertain significance Single submitter
- ATP6V1E2 p.Leu128Val Uncertain significance Single submitter
- ATP6V1E2 p.Leu141Pro Uncertain significance Single submitter
- ATP6V1E2 p.Leu143Val Uncertain significance Single submitter
- ATP6V1E2 p.Lys191Thr Uncertain significance Single submitter
- ATP6V1E2 p.Val131Met Uncertain significance Single submitter
- ATP6V1E2 p.Val8Met Uncertain significance Single submitter
All ATP6V1E2 variants
Likely benign 1
- p.Ser203Leu Single submitter
Uncertain significance 26
- p.Ala178Gly Single submitter ⚠
- p.Ala79Thr Single submitter ⚠
- p.Ala79Val Single submitter ⚠
- p.Arg135His Single submitter ⚠
- p.Arg199Gln Single submitter ⚠
- p.Arg44Cys Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Arg80Lys Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Asn221Lys Single submitter ⚠
- p.Asp31Gly Single submitter ⚠
- p.Gln122Arg Single submitter ⚠
- p.Glu182Ala Single submitter ⚠
- p.Gly217Ser Single submitter ⚠
- p.Ile64Thr Single submitter ⚠
- p.Leu128Val Single submitter ⚠
- p.Leu141Pro Single submitter ⚠
- p.Leu143Val Single submitter ⚠
- p.Leu90Phe Single submitter ⚠
- p.Lys191Thr Single submitter ⚠
- p.Met156Ile Single submitter ⚠
- p.Met156Val Single submitter ⚠
- p.Met213Ile Single submitter ⚠
- p.Met213Thr Single submitter ⚠
- p.Val131Met Single submitter ⚠
- p.Val8Met Single submitter ⚠