ATP6V1H — 60 ClinVar variants
All ClinVar germline ATP6V1H variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
1 Likely benign · 59 Uncertain significance
Full ATP6V1H gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V1H p.Ala150Thr Uncertain significance Single submitter
- ATP6V1H p.Ala408Ser Uncertain significance Single submitter
- ATP6V1H p.Ala479Ser Uncertain significance Single submitter
- ATP6V1H p.Ala479Thr Uncertain significance Single submitter
- ATP6V1H p.Ala481Thr Uncertain significance Single submitter
- ATP6V1H p.Arg262Cys Uncertain significance Single submitter
- ATP6V1H p.Arg27Gly Uncertain significance Single submitter
- ATP6V1H p.Arg302Cys Uncertain significance Single submitter
- ATP6V1H p.Arg449His Uncertain significance Single submitter
- ATP6V1H p.Arg482Gln Uncertain significance Single submitter
- ATP6V1H p.Asn104Ser Uncertain significance Single submitter
- ATP6V1H p.Asn212Ser Uncertain significance Single submitter
- ATP6V1H p.Asn29Ser Uncertain significance Single submitter
- ATP6V1H p.Asn463Asp Uncertain significance Single submitter
- ATP6V1H p.Cys47Tyr Uncertain significance Single submitter
- ATP6V1H p.Cys85Gly Uncertain significance Single submitter
- ATP6V1H p.Gly181Ser Uncertain significance Single submitter
- ATP6V1H p.Gly187Glu Uncertain significance Single submitter
- ATP6V1H p.Gly432Ser Uncertain significance Single submitter
- ATP6V1H p.His443Arg Uncertain significance Single submitter
- ATP6V1H p.Ile247Val Uncertain significance Single submitter
- ATP6V1H p.Leu155Pro Uncertain significance Single submitter
- ATP6V1H p.Leu66Ile Uncertain significance Single submitter
- ATP6V1H p.Lys153Arg Uncertain significance Single submitter
- ATP6V1H p.Met100Val Uncertain significance Single submitter
- ATP6V1H p.Met129Val Uncertain significance Single submitter
- ATP6V1H p.Met309Val Uncertain significance Single submitter
- ATP6V1H p.Met438Val Uncertain significance Single submitter
- ATP6V1H p.Phe375Leu Uncertain significance Single submitter
- ATP6V1H p.Pro59Leu Uncertain significance Single submitter
- ATP6V1H p.Ser109Asn Uncertain significance Single submitter
- ATP6V1H p.Ser180Arg Uncertain significance Single submitter
- ATP6V1H p.Ser483Asn Uncertain significance Single submitter
- ATP6V1H p.Tyr114Cys Uncertain significance Single submitter
- ATP6V1H p.Tyr164Asn Uncertain significance Single submitter
- ATP6V1H p.Val219Leu Uncertain significance Single submitter
- ATP6V1H p.Val418Met Uncertain significance Single submitter
- ATP6V1H p.Asn387Tyr Uncertain significance No assertion criteria
Predictors split 16
The independent predictors disagree with each other — read with care.
- ATP6V1H p.Arg132His Uncertain significance Single submitter
- ATP6V1H p.Arg290His Uncertain significance Single submitter
- ATP6V1H p.Arg426Trp Uncertain significance Single submitter
- ATP6V1H p.Asn451Asp Uncertain significance Single submitter
- ATP6V1H p.Asp113His Uncertain significance Single submitter
- ATP6V1H p.Asp327Asn Uncertain significance Single submitter
- ATP6V1H p.Gln447Arg Uncertain significance Single submitter
- ATP6V1H p.Glu333Lys Uncertain significance Single submitter
- ATP6V1H p.Gly203Arg Uncertain significance Single submitter
- ATP6V1H p.Gly343Arg Uncertain significance Single submitter
- ATP6V1H p.Ile310Thr Uncertain significance Single submitter
- ATP6V1H p.Ile335Thr Uncertain significance Single submitter
- ATP6V1H p.Lys147Thr Uncertain significance Single submitter
- ATP6V1H p.Pro15Ala Uncertain significance Single submitter
- ATP6V1H p.Ser483Arg Uncertain significance Single submitter
- ATP6V1H p.Val198Gly Uncertain significance Single submitter
All ATP6V1H variants
Likely benign 1
- p.Ser350= Single submitter
Uncertain significance 59
- p.Ala150Thr Single submitter ⚠
- p.Ala408Ser Single submitter ⚠
- p.Ala479Ser Single submitter ⚠
- p.Ala479Thr Single submitter ⚠
- p.Ala481Thr Single submitter ⚠
- p.Arg107Cys Single submitter
- p.Arg132His Single submitter ⚠
- p.Arg262Cys Single submitter ⚠
- p.Arg27Gly Single submitter ⚠
- p.Arg290His Single submitter ⚠
- p.Arg302Cys Single submitter ⚠
- p.Arg426Trp Single submitter ⚠
- p.Arg449His Single submitter ⚠
- p.Arg482Gln Single submitter ⚠
- p.Arg7Gln Single submitter
- p.Asn104Ser Single submitter ⚠
- p.Asn212Ser Single submitter ⚠
- p.Asn29Ser Single submitter ⚠
- p.Asn451Asp Single submitter ⚠
- p.Asn463Asp Single submitter ⚠
- p.Asp113His Single submitter ⚠
- p.Asp222Gly Single submitter
- p.Asp327Asn Single submitter ⚠
- p.Cys47Tyr Single submitter ⚠
- p.Cys85Gly Single submitter ⚠
- p.Gln102Arg Single submitter
- p.Gln405His Single submitter
- p.Gln447Arg Single submitter ⚠
- p.Glu333Lys Single submitter ⚠
- p.Gly181Ser Single submitter ⚠
- p.Gly187Glu Single submitter ⚠
- p.Gly203Arg Single submitter ⚠
- p.Gly343Arg Single submitter ⚠
- p.Gly432Ser Single submitter ⚠
- p.His443Arg Single submitter ⚠
- p.Ile247Val Single submitter ⚠
- p.Ile310Thr Single submitter ⚠
- p.Ile335Thr Single submitter ⚠
- p.Leu155Pro Single submitter ⚠
- p.Leu66Ile Single submitter ⚠
- p.Lys147Thr Single submitter ⚠
- p.Lys153Arg Single submitter ⚠
- p.Met100Val Single submitter ⚠
- p.Met129Val Single submitter ⚠
- p.Met309Val Single submitter ⚠
- p.Met438Val Single submitter ⚠
- p.Phe375Leu Single submitter ⚠
- p.Pro15Ala Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Ser109Asn Single submitter ⚠
- p.Ser180Arg Single submitter ⚠
- p.Ser483Arg Single submitter ⚠
- p.Ser483Asn Single submitter ⚠
- p.Tyr114Cys Single submitter ⚠
- p.Tyr164Asn Single submitter ⚠
- p.Val198Gly Single submitter ⚠
- p.Val219Leu Single submitter ⚠
- p.Val418Met Single submitter ⚠
- p.Asn387Tyr No assertion criteria ⚠