ATP6V0D1 — 33 ClinVar variants
All ClinVar germline ATP6V0D1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
33 Uncertain significance
Full ATP6V0D1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V0D1 p.Ala123Thr Uncertain significance Single submitter
- ATP6V0D1 p.Ala162Pro Uncertain significance Single submitter
- ATP6V0D1 p.Ala25Ser Uncertain significance Single submitter
- ATP6V0D1 p.Ala333Thr Uncertain significance Single submitter
- ATP6V0D1 p.Ala94Thr Uncertain significance Single submitter
- ATP6V0D1 p.Arg120Cys Uncertain significance Single submitter
- ATP6V0D1 p.Arg218His Uncertain significance Single submitter
- ATP6V0D1 p.Arg237His Uncertain significance Single submitter
- ATP6V0D1 p.Arg339His Uncertain significance Single submitter
- ATP6V0D1 p.Asp107Asn Uncertain significance Single submitter
- ATP6V0D1 p.Glu40Lys Uncertain significance Single submitter
- ATP6V0D1 p.His130Tyr Uncertain significance Single submitter
- ATP6V0D1 p.Phe312Ser Uncertain significance Single submitter
- ATP6V0D1 p.Pro249Ser Uncertain significance Single submitter
- ATP6V0D1 p.Ser68Ala Uncertain significance Single submitter
- ATP6V0D1 p.Thr289Met Uncertain significance Single submitter
- ATP6V0D1 p.Tyr54Cys Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- ATP6V0D1 p.Ala140Thr Uncertain significance Single submitter
- ATP6V0D1 p.Ala220Thr Uncertain significance Single submitter
- ATP6V0D1 p.Arg246Gln Uncertain significance Single submitter
- ATP6V0D1 p.Arg257Gln Uncertain significance Single submitter
- ATP6V0D1 p.Arg257Trp Uncertain significance Single submitter
- ATP6V0D1 p.Arg339Cys Uncertain significance Single submitter
- ATP6V0D1 p.Asp260Asn Uncertain significance Single submitter
- ATP6V0D1 p.Asp345Asn Uncertain significance Single submitter
- ATP6V0D1 p.Gln50Glu Uncertain significance Single submitter
- ATP6V0D1 p.Gly282Ser Uncertain significance Single submitter
- ATP6V0D1 p.His297Tyr Uncertain significance Single submitter
- ATP6V0D1 p.Pro147Ala Uncertain significance Single submitter
- ATP6V0D1 p.Ser51Arg Uncertain significance Single submitter
- ATP6V0D1 p.Thr66Met Uncertain significance Single submitter
- ATP6V0D1 p.Tyr194Cys Uncertain significance Single submitter
All ATP6V0D1 variants
Uncertain significance 33
- c.562-2A>T Single submitter
- p.Ala123Thr Single submitter ⚠
- p.Ala140Thr Single submitter ⚠
- p.Ala162Pro Single submitter ⚠
- p.Ala220Thr Single submitter ⚠
- p.Ala25Ser Single submitter ⚠
- p.Ala333Thr Single submitter ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg120Cys Single submitter ⚠
- p.Arg218His Single submitter ⚠
- p.Arg237His Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg257Trp Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg339His Single submitter ⚠
- p.Asp107Asn Single submitter ⚠
- p.Asp260Asn Single submitter ⚠
- p.Asp345Asn Single submitter ⚠
- p.Gln50Glu Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Gly282Ser Single submitter ⚠
- p.His130Tyr Single submitter ⚠
- p.His297Tyr Single submitter ⚠
- p.Phe312Ser Single submitter ⚠
- p.Pro147Ala Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Ser51Arg Single submitter ⚠
- p.Ser68Ala Single submitter ⚠
- p.Thr289Met Single submitter ⚠
- p.Thr66Met Single submitter ⚠
- p.Tyr194Cys Single submitter ⚠
- p.Tyr54Cys Single submitter ⚠