ATP6V0A1 — 141 ClinVar variants
All ClinVar germline ATP6V0A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →
8 Pathogenic · 5 Likely pathogenic · 2 Conflicting · 6 Likely benign · 120 Uncertain significance
Full ATP6V0A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 116
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ATP6V0A1 p.Arg740Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Gln18Leu
Conflicting
Single submitter
Seizure
Predictors lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ATP6V0A1 p.Arg387Gln
Uncertain significance
Multiple submitters
neurodevelopmental disorder with epilepsy and brain atrophy
-
ATP6V0A1 p.Arg429Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ATP6V0A1 p.Asn503Ser Uncertain significance Multiple submitters
-
ATP6V0A1 p.Glu427Gln
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Gly411Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6V0A1 p.Lys563Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6V0A1 p.Met61Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6V0A1 p.Phe550Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6V0A1 p.Pro655Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6V0A1 p.Ala143Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Ala99Gly Uncertain significance Single submitter
-
ATP6V0A1 p.Arg177Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Arg179His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Arg189Trp
Uncertain significance
Single submitter
neurodevelopmental disorder with epilepsy and brain atrophy
- ATP6V0A1 p.Arg192Trp Uncertain significance Single submitter
- ATP6V0A1 p.Arg198Gln Uncertain significance Single submitter
-
ATP6V0A1 p.Arg482Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Arg831Gln
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Asn176Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Asn390Asp Uncertain significance Single submitter
-
ATP6V0A1 p.Asn435Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Asp227Asn Uncertain significance Single submitter
-
ATP6V0A1 p.Asp409Tyr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Asp96Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
- ATP6V0A1 p.Gln228Glu Uncertain significance Single submitter
- ATP6V0A1 p.Gln48His Uncertain significance Single submitter
- ATP6V0A1 p.Glu110Gln Uncertain significance Single submitter
-
ATP6V0A1 p.Glu141Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Glu704Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Glu71Asp Uncertain significance Single submitter
-
ATP6V0A1 p.Gly508Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
- ATP6V0A1 p.His600Arg Uncertain significance Single submitter
- ATP6V0A1 p.Ile104Met Uncertain significance Single submitter
- ATP6V0A1 p.Ile389Arg Uncertain significance Single submitter
- ATP6V0A1 p.Ile397Phe Uncertain significance Single submitter
-
ATP6V0A1 p.Ile397Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Ile524Val Uncertain significance Single submitter
-
ATP6V0A1 p.Ile545Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Ile573Leu Uncertain significance Single submitter
- ATP6V0A1 p.Leu452Trp Uncertain significance Single submitter
- ATP6V0A1 p.Leu452Val Uncertain significance Single submitter
- ATP6V0A1 p.Leu502Pro Uncertain significance Single submitter
-
ATP6V0A1 p.Leu790Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Lys813Thr Uncertain significance Single submitter
-
ATP6V0A1 p.Met355Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Met423Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Met439Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Met615Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Met627Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Met627Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Met650Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Phe410Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
- ATP6V0A1 p.Phe456Leu Uncertain significance Single submitter
-
ATP6V0A1 p.Phe653Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Pro326Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Pro682Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Pro824Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Ser553Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Ser555Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Ser623Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Thr164Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Thr357Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Thr493Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Thr595Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Thr735Ala Uncertain significance Single submitter
-
ATP6V0A1 p.Tyr214His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Tyr304Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Tyr304Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Tyr372Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Val210Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Val35Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Val642Asp Uncertain significance Single submitter
-
ATP6V0A1 p.Val647Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Val754Leu Uncertain significance Single submitter
-
ATP6V0A1 p.Arg447Gln
Uncertain significance
No assertion criteria
esophageal atresia
-
ATP6V0A1 p.Pro400Leu
Uncertain significance
No assertion criteria
ATP6V0A1-related condition
Predictors split 38
The independent predictors disagree with each other — read with care.
-
ATP6V0A1 p.Arg659His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6V0A1 p.Val774Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATP6V0A1 p.Ala392Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Ala75Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Arg298Leu Likely benign Single submitter
- ATP6V0A1 p.Arg338Lys Uncertain significance Single submitter
- ATP6V0A1 p.Arg495Trp Uncertain significance Single submitter
-
ATP6V0A1 p.Arg660His
Likely benign
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Arg6Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Asn437Ser Uncertain significance Single submitter
-
ATP6V0A1 p.Asn614Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Asn812Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Asp213Asn Uncertain significance Single submitter
-
ATP6V0A1 p.Asp266Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Asp329Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Asp329His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Gln137His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Glu491Lys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
- ATP6V0A1 p.Gly161Val Uncertain significance Single submitter
-
ATP6V0A1 p.Gly714Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
- ATP6V0A1 p.His600Pro Uncertain significance Single submitter
- ATP6V0A1 p.His719Tyr Uncertain significance Single submitter
-
ATP6V0A1 p.Ile175Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Ile222Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 104
-
ATP6V0A1 p.Ile290Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Ile725Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Leu418Phe Uncertain significance Single submitter
-
ATP6V0A1 p.Leu668Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Lys434Asn Uncertain significance Single submitter
- ATP6V0A1 p.Phe419Val Uncertain significance Single submitter
- ATP6V0A1 p.Phe557Leu Uncertain significance Single submitter
-
ATP6V0A1 p.Pro515Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Thr126Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Thr250Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ATP6V0A1 p.Thr580Asn Uncertain significance Single submitter
-
ATP6V0A1 p.Val35Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Val499Ala
Likely benign
Single submitter
Inborn genetic diseases
-
ATP6V0A1 p.Val787Met
Uncertain significance
Single submitter
Inborn genetic diseases
All ATP6V0A1 variants
Pathogenic 8
- c.118-1del Single submitter neurodevelopmental disorder with epilepsy and brain atrophy
- c.196+1G>A No assertion criteria neurodevelopmental disorder with epilepsy and brain atrophy
- p.Ala505Pro No assertion criteria neurodevelopmental disorder with epilepsy and brain atrophy
- p.Arg804His No assertion criteria developmental and epileptic encephalopathy 104
- p.Asn527Asp No assertion criteria neurodevelopmental disorder with epilepsy and brain atrophy
- p.Glu149fs No assertion criteria neurodevelopmental disorder with epilepsy and brain atrophy
- p.Gly544Asp No assertion criteria developmental and epileptic encephalopathy 104
- p.Ser477Pro No assertion criteria developmental and epileptic encephalopathy 104
Likely pathogenic 5
- c.118-2A>G Single submitter developmental and epileptic encephalopathy 104
- p.Arg740Pro Single submitter
- p.Glu794Val Single submitter
- p.Gly819Asp Single submitter
- p.Lys317fs Single submitter neurodevelopmental disorder with epilepsy and brain atrophy
Conflicting classifications of pathogenicity 2
- p.Arg740Gln Single submitter Inborn genetic diseases ⚠
- p.Gln18Leu Single submitter Seizure ⚠
Likely benign 6
- p.Ala749= Single submitter
- p.Arg298Leu Single submitter ⚠
- p.Arg660His Single submitter Inborn genetic diseases ⚠
- p.Pro91= Single submitter
- p.Ser797= Single submitter
- p.Val499Ala Single submitter Inborn genetic diseases ⚠
Uncertain significance 120
- p.Arg387Gln Multiple submitters neurodevelopmental disorder with epilepsy and brain atrophy ⚠
- p.Arg429Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg659His Multiple submitters Inborn genetic diseases ⚠
- p.Asn503Ser Multiple submitters ⚠
- p.Glu427Gln Multiple submitters developmental and epileptic encephalopathy 104 ⚠
- p.Gly411Ser Multiple submitters Inborn genetic diseases ⚠
- p.Lys563Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met61Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe550Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro655Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val774Met Multiple submitters Inborn genetic diseases ⚠
- c.1175-8C>T Single submitter developmental and epileptic encephalopathy 104
- c.1470-6T>C Single submitter
- c.2004+1512_2004+1521del Single submitter developmental and epileptic encephalopathy 104
- c.2112+16G>A Single submitter
- p.Ala143Val Single submitter Inborn genetic diseases ⚠
- p.Ala392Gly Single submitter Inborn genetic diseases ⚠
- p.Ala75Gly Single submitter Inborn genetic diseases ⚠
- p.Ala99Gly Single submitter ⚠
- p.Arg177Trp Single submitter Inborn genetic diseases ⚠
- p.Arg179His Single submitter Inborn genetic diseases ⚠
- p.Arg189Trp Single submitter neurodevelopmental disorder with epilepsy and brain atrophy ⚠
- p.Arg192Trp Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg338Lys Single submitter ⚠
- p.Arg482Gln Single submitter Inborn genetic diseases ⚠
- p.Arg495Trp Single submitter ⚠
- p.Arg6Gln Single submitter Inborn genetic diseases ⚠
- p.Arg831Gln Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Asn176Lys Single submitter Inborn genetic diseases ⚠
- p.Asn390Asp Single submitter ⚠
- p.Asn435Lys Single submitter Inborn genetic diseases ⚠
- p.Asn437Ser Single submitter ⚠
- p.Asn614Ser Single submitter Inborn genetic diseases ⚠
- p.Asn812Ser Single submitter Inborn genetic diseases ⚠
- p.Asp213Asn Single submitter ⚠
- p.Asp227Asn Single submitter ⚠
- p.Asp266Gly Single submitter Inborn genetic diseases ⚠
- p.Asp329Asn Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Asp329His Single submitter Inborn genetic diseases ⚠
- p.Asp409Tyr Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Asp96Val Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Gln137His Single submitter Inborn genetic diseases ⚠
- p.Gln228Glu Single submitter ⚠
- p.Gln48His Single submitter ⚠
- p.Glu110Gln Single submitter ⚠
- p.Glu141Gly Single submitter Inborn genetic diseases ⚠
- p.Glu491Lys Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Glu704Lys Single submitter Inborn genetic diseases ⚠
- p.Glu71Asp Single submitter ⚠
- p.Gly161Val Single submitter ⚠
- p.Gly508Val Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Gly714Val Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.His600Arg Single submitter ⚠
- p.His600Pro Single submitter ⚠
- p.His719Tyr Single submitter ⚠
- p.Ile104Met Single submitter ⚠
- p.Ile175Val Single submitter Inborn genetic diseases ⚠
- p.Ile222Val Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Ile290Thr Single submitter Inborn genetic diseases ⚠
- p.Ile389Arg Single submitter ⚠
- p.Ile397Phe Single submitter ⚠
- p.Ile397Thr Single submitter Inborn genetic diseases ⚠
- p.Ile524Val Single submitter ⚠
- p.Ile545Val Single submitter Inborn genetic diseases ⚠
- p.Ile573Leu Single submitter ⚠
- p.Ile725Val Single submitter Inborn genetic diseases ⚠
- p.Leu418Phe Single submitter ⚠
- p.Leu452Trp Single submitter ⚠
- p.Leu452Val Single submitter ⚠
- p.Leu502Pro Single submitter ⚠
- p.Leu668Val Single submitter Inborn genetic diseases ⚠
- p.Leu790Ile Single submitter Inborn genetic diseases ⚠
- p.Lys434Asn Single submitter ⚠
- p.Lys813Thr Single submitter ⚠
- p.Met355Arg Single submitter Inborn genetic diseases ⚠
- p.Met423Ile Single submitter Inborn genetic diseases ⚠
- p.Met439Val Single submitter Inborn genetic diseases ⚠
- p.Met615Thr Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Met627Thr Single submitter Inborn genetic diseases ⚠
- p.Met627Val Single submitter Inborn genetic diseases ⚠
- p.Met650Thr Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Phe410Leu Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Phe419Val Single submitter ⚠
- p.Phe456Leu Single submitter ⚠
- p.Phe557Leu Single submitter ⚠
- p.Phe653Leu Single submitter Inborn genetic diseases ⚠
- p.Pro326Ser Single submitter Inborn genetic diseases ⚠
- p.Pro515Thr Single submitter Inborn genetic diseases ⚠
- p.Pro682Leu Single submitter Inborn genetic diseases ⚠
- p.Pro824Arg Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Ser553Gly Single submitter Inborn genetic diseases ⚠
- p.Ser555Arg Single submitter Inborn genetic diseases ⚠
- p.Ser623Thr Single submitter Inborn genetic diseases ⚠
- p.Thr126Asn Single submitter Inborn genetic diseases ⚠
- p.Thr164Ala Single submitter Inborn genetic diseases ⚠
- p.Thr250Ala Single submitter Inborn genetic diseases ⚠
- p.Thr341= Single submitter neurodevelopmental disorder with epilepsy and brain atrophy
- p.Thr357Ala Single submitter Inborn genetic diseases ⚠
- p.Thr493Met Single submitter Inborn genetic diseases ⚠
- p.Thr580Asn Single submitter ⚠
- p.Thr595Ser Single submitter Inborn genetic diseases ⚠
- p.Thr735Ala Single submitter ⚠
- p.Trp522Ter Single submitter neurodevelopmental disorder with epilepsy and brain atrophy
- p.Tyr214His Single submitter Inborn genetic diseases ⚠
- p.Tyr304Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr304Cys Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Tyr372Cys Single submitter Inborn genetic diseases ⚠
- p.Val210Leu Single submitter developmental and epileptic encephalopathy 104 ⚠
- p.Val271fs Single submitter
- p.Val35Ile Single submitter Inborn genetic diseases ⚠
- p.Val35Phe Single submitter Inborn genetic diseases ⚠
- p.Val642Asp Single submitter ⚠
- p.Val647Leu Single submitter Inborn genetic diseases ⚠
- p.Val754Leu Single submitter ⚠
- p.Val787Met Single submitter Inborn genetic diseases ⚠
- c.1023+1G>T No assertion criteria prostate cancer
- p.Arg447Gln No assertion criteria esophageal atresia ⚠
- p.Asn567fs No assertion criteria ATP6V0A1-related condition
- p.Pro400Leu No assertion criteria ATP6V0A1-related condition ⚠