ATP6V1C1 — 39 ClinVar variants
All ClinVar germline ATP6V1C1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Pathogenic · 1 Likely benign · 37 Uncertain significance
Full ATP6V1C1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V1C1 p.Arg238Lys Uncertain significance Single submitter
- ATP6V1C1 p.Arg249His Uncertain significance Single submitter
- ATP6V1C1 p.Asn30Asp Uncertain significance Single submitter
- ATP6V1C1 p.Asn30Ser Uncertain significance Single submitter
- ATP6V1C1 p.Asn324Asp Uncertain significance Single submitter
- ATP6V1C1 p.Asn377Ser Uncertain significance Single submitter
- ATP6V1C1 p.Asp108Val Uncertain significance Single submitter
- ATP6V1C1 p.Asp133His Uncertain significance Single submitter
- ATP6V1C1 p.Glu168Asp Uncertain significance Single submitter
- ATP6V1C1 p.His194Leu Uncertain significance Single submitter
- ATP6V1C1 p.Ile102Val Uncertain significance Single submitter
- ATP6V1C1 p.Ile169Phe Uncertain significance Single submitter
- ATP6V1C1 p.Ile349Met Uncertain significance Single submitter
- ATP6V1C1 p.Leu359Phe Uncertain significance Single submitter
- ATP6V1C1 p.Lys172Thr Uncertain significance Single submitter
- ATP6V1C1 p.Lys60Glu Uncertain significance Single submitter
- ATP6V1C1 p.Lys84Glu Uncertain significance Single submitter
- ATP6V1C1 p.Met319Val Uncertain significance Single submitter
- ATP6V1C1 p.Phe291Ser Uncertain significance Single submitter
- ATP6V1C1 p.Ser165Asn Uncertain significance Single submitter
- ATP6V1C1 p.Ser222Gly Uncertain significance Single submitter
- ATP6V1C1 p.Thr35Ala Uncertain significance Single submitter
- ATP6V1C1 p.Val183Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- ATP6V1C1 p.Ala347Val Uncertain significance Single submitter
- ATP6V1C1 p.Arg104Gly Uncertain significance Single submitter
- ATP6V1C1 p.Asn195Ser Uncertain significance Single submitter
- ATP6V1C1 p.Gln16His Uncertain significance Single submitter
- ATP6V1C1 p.Glu206Lys Uncertain significance Single submitter
- ATP6V1C1 p.Ile114Val Uncertain significance Single submitter
- ATP6V1C1 p.Ile295Thr Uncertain significance Single submitter
- ATP6V1C1 p.Leu338Phe Uncertain significance Single submitter
- ATP6V1C1 p.Leu92Phe Uncertain significance Single submitter
- ATP6V1C1 p.Lys240Gln Uncertain significance Single submitter
- ATP6V1C1 p.Met76Ile Uncertain significance Single submitter
- ATP6V1C1 p.Phe381Leu Uncertain significance Single submitter
- ATP6V1C1 p.Val129Leu Uncertain significance Single submitter
- ATP6V1C1 p.Val69Ile Uncertain significance Single submitter
All ATP6V1C1 variants
Pathogenic 1
- p.Glu289Lys Single submitter DOORS syndrome
Likely benign 1
- p.Lys191= Single submitter
Uncertain significance 37
- p.Ala347Val Single submitter ⚠
- p.Arg104Gly Single submitter ⚠
- p.Arg238Lys Single submitter ⚠
- p.Arg249His Single submitter ⚠
- p.Asn195Ser Single submitter ⚠
- p.Asn30Asp Single submitter ⚠
- p.Asn30Ser Single submitter ⚠
- p.Asn324Asp Single submitter ⚠
- p.Asn377Ser Single submitter ⚠
- p.Asp108Val Single submitter ⚠
- p.Asp133His Single submitter ⚠
- p.Gln16His Single submitter ⚠
- p.Glu168Asp Single submitter ⚠
- p.Glu206Lys Single submitter ⚠
- p.His194Leu Single submitter ⚠
- p.Ile102Val Single submitter ⚠
- p.Ile114Val Single submitter ⚠
- p.Ile169Phe Single submitter ⚠
- p.Ile295Thr Single submitter ⚠
- p.Ile349Met Single submitter ⚠
- p.Leu338Phe Single submitter ⚠
- p.Leu359Phe Single submitter ⚠
- p.Leu92Phe Single submitter ⚠
- p.Lys172Thr Single submitter ⚠
- p.Lys240Gln Single submitter ⚠
- p.Lys60Glu Single submitter ⚠
- p.Lys84Glu Single submitter ⚠
- p.Met319Val Single submitter ⚠
- p.Met76Ile Single submitter ⚠
- p.Phe291Ser Single submitter ⚠
- p.Phe381Leu Single submitter ⚠
- p.Ser165Asn Single submitter ⚠
- p.Ser222Gly Single submitter ⚠
- p.Thr35Ala Single submitter ⚠
- p.Val129Leu Single submitter ⚠
- p.Val183Ile Single submitter ⚠
- p.Val69Ile Single submitter ⚠