ATP6V1D — 17 ClinVar variants
All ClinVar germline ATP6V1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
17 Uncertain significance
Full ATP6V1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V1D p.Ala149Val Uncertain significance Single submitter
- ATP6V1D p.Arg179Gln Uncertain significance Single submitter
- ATP6V1D p.Arg196Gln Uncertain significance Single submitter
- ATP6V1D p.Arg22His Uncertain significance Single submitter
- ATP6V1D p.Asn88Ser Uncertain significance Single submitter
- ATP6V1D p.Asp219Glu Uncertain significance Single submitter
- ATP6V1D p.Glu60Lys Uncertain significance Single submitter
- ATP6V1D p.Ile164Val Uncertain significance Single submitter
- ATP6V1D p.Ile205Leu Uncertain significance Single submitter
- ATP6V1D p.Ile7Val Uncertain significance Single submitter
- ATP6V1D p.Leu57Met Uncertain significance Single submitter
- ATP6V1D p.Tyr200Phe Uncertain significance Single submitter
- ATP6V1D p.Val142Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ATP6V1D variants
Uncertain significance 17
- p.Ala149Val Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg22His Single submitter ⚠
- p.Arg30Gln Single submitter ⚠
- p.Arg30Leu Single submitter ⚠
- p.Asn88Ser Single submitter ⚠
- p.Asp219Glu Single submitter ⚠
- p.Glu60Lys Single submitter ⚠
- p.Ile162Val Single submitter
- p.Ile164Val Single submitter ⚠
- p.Ile177Val Single submitter
- p.Ile205Leu Single submitter ⚠
- p.Ile7Val Single submitter ⚠
- p.Leu57Met Single submitter ⚠
- p.Tyr200Phe Single submitter ⚠
- p.Val142Ala Single submitter ⚠