ATP8A1 — 105 ClinVar variants
All ClinVar germline ATP8A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
1 Pathogenic · 2 Likely benign · 102 Uncertain significance
Full ATP8A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP8A1 p.Ala1042Thr Uncertain significance Single submitter
- ATP8A1 p.Ala1061Thr Uncertain significance Single submitter
-
ATP8A1 p.Ala430Val
Uncertain significance
Single submitter
autism spectrum disorder
- ATP8A1 p.Ala510Thr Uncertain significance Single submitter
- ATP8A1 p.Ala656Gly Uncertain significance Single submitter
- ATP8A1 p.Ala826Thr Uncertain significance Single submitter
- ATP8A1 p.Ala835Thr Uncertain significance Single submitter
- ATP8A1 p.Ala933Gly Uncertain significance Single submitter
- ATP8A1 p.Arg1123His Uncertain significance Single submitter
- ATP8A1 p.Arg123Gln Uncertain significance Single submitter
- ATP8A1 p.Arg513Thr Uncertain significance Single submitter
- ATP8A1 p.Arg5Gln Uncertain significance Single submitter
- ATP8A1 p.Arg628Gln Uncertain significance Single submitter
- ATP8A1 p.Arg725Cys Uncertain significance Single submitter
- ATP8A1 p.Asn466Tyr Uncertain significance Single submitter
- ATP8A1 p.Asn469Asp Uncertain significance Single submitter
- ATP8A1 p.Asn947His Uncertain significance Single submitter
- ATP8A1 p.Asp22Gly Uncertain significance Single submitter
- ATP8A1 p.Asp22Val Uncertain significance Single submitter
- ATP8A1 p.Asp230Asn Uncertain significance Single submitter
- ATP8A1 p.Asp460Gly Uncertain significance Single submitter
- ATP8A1 p.Asp618Asn Uncertain significance Single submitter
- ATP8A1 p.Cys478Arg Uncertain significance Single submitter
- ATP8A1 p.Cys478Tyr Uncertain significance Single submitter
- ATP8A1 p.Gln620Glu Uncertain significance Single submitter
- ATP8A1 p.Glu438Lys Uncertain significance Single submitter
- ATP8A1 p.Glu621Lys Uncertain significance Single submitter
- ATP8A1 p.Glu641Lys Uncertain significance Single submitter
- ATP8A1 p.Glu925Lys Uncertain significance Single submitter
- ATP8A1 p.Gly336Asp Uncertain significance Single submitter
- ATP8A1 p.Gly496Asp Uncertain significance Single submitter
- ATP8A1 p.His471Leu Uncertain significance Single submitter
- ATP8A1 p.His471Pro Uncertain significance Single submitter
- ATP8A1 p.Ile1015Val Uncertain significance Single submitter
- ATP8A1 p.Ile1024Val Uncertain significance Single submitter
- ATP8A1 p.Ile114Leu Uncertain significance Single submitter
- ATP8A1 p.Ile266Val Uncertain significance Single submitter
- ATP8A1 p.Ile578Val Uncertain significance Single submitter
- ATP8A1 p.Ile711Thr Uncertain significance Single submitter
- ATP8A1 p.Ile874Val Uncertain significance Single submitter
- ATP8A1 p.Leu1087Met Uncertain significance Single submitter
- ATP8A1 p.Leu1121Met Uncertain significance Single submitter
- ATP8A1 p.Leu228Val Uncertain significance Single submitter
- ATP8A1 p.Leu547Met Uncertain significance Single submitter
- ATP8A1 p.Leu82Val Uncertain significance Single submitter
- ATP8A1 p.Leu994Ser Uncertain significance Single submitter
- ATP8A1 p.Lys1090Thr Uncertain significance Single submitter
- ATP8A1 p.Lys326Arg Uncertain significance Single submitter
- ATP8A1 p.Lys498Glu Uncertain significance Single submitter
- ATP8A1 p.Lys594Gln Uncertain significance Single submitter
- ATP8A1 p.Lys700Arg Uncertain significance Single submitter
- ATP8A1 p.Lys736Glu Uncertain significance Single submitter
- ATP8A1 p.Met1053Ile Uncertain significance Single submitter
- ATP8A1 p.Met180Val Uncertain significance Single submitter
- ATP8A1 p.Met484Leu Uncertain significance Single submitter
- ATP8A1 p.Phe73Ser Uncertain significance Single submitter
- ATP8A1 p.Pro201Thr Uncertain significance Single submitter
- ATP8A1 p.Pro224Thr Uncertain significance Single submitter
- ATP8A1 p.Ser338Thr Uncertain significance Single submitter
- ATP8A1 p.Thr473Ala Uncertain significance Single submitter
- ATP8A1 p.Thr473Pro Uncertain significance Single submitter
- ATP8A1 p.Thr728Ala Uncertain significance Single submitter
- ATP8A1 p.Thr729Ala Uncertain significance Single submitter
- ATP8A1 p.Thr754Ala Uncertain significance Single submitter
- ATP8A1 p.Tyr182His Uncertain significance Single submitter
- ATP8A1 p.Tyr923Cys Uncertain significance Single submitter
- ATP8A1 p.Val1020Ala Uncertain significance Single submitter
- ATP8A1 p.Val1020Leu Uncertain significance Single submitter
- ATP8A1 p.Val1071Ile Uncertain significance Single submitter
- ATP8A1 p.Val232Leu Uncertain significance Single submitter
- ATP8A1 p.Val633Ala Uncertain significance Single submitter
- ATP8A1 p.Val943Phe Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- ATP8A1 p.Ala1016Pro Uncertain significance Single submitter
- ATP8A1 p.Ala503Val Uncertain significance Single submitter
- ATP8A1 p.Ala752Thr Uncertain significance Single submitter
- ATP8A1 p.Arg292Gln Uncertain significance Single submitter
- ATP8A1 p.Arg292Trp Uncertain significance Single submitter
- ATP8A1 p.Asn352Ser Uncertain significance Single submitter
- ATP8A1 p.Asp497Tyr Uncertain significance Single submitter
- ATP8A1 p.Asp580Gly Uncertain significance Single submitter
- ATP8A1 p.Asp665Gly Uncertain significance Single submitter
- ATP8A1 p.Cys945Ser Uncertain significance Single submitter
- ATP8A1 p.Gly239Ala Uncertain significance Single submitter
- ATP8A1 p.Gly496Ser Uncertain significance Single submitter
- ATP8A1 p.Gly536Glu Uncertain significance Single submitter
- ATP8A1 p.His147Pro Uncertain significance Single submitter
- ATP8A1 p.His726Arg Uncertain significance Single submitter
- ATP8A1 p.Ile499Thr Uncertain significance Single submitter
- ATP8A1 p.Ile772Val Uncertain significance Single submitter
- ATP8A1 p.Met1038Thr Uncertain significance Single submitter
- ATP8A1 p.Met484Ile Uncertain significance Single submitter
- ATP8A1 p.Ser529Leu Uncertain significance Single submitter
- ATP8A1 p.Thr670Ala Uncertain significance Single submitter
- ATP8A1 p.Trp262Cys Uncertain significance Single submitter
- ATP8A1 p.Tyr626Cys Uncertain significance Single submitter
- ATP8A1 p.Val757Ala Uncertain significance Single submitter
All ATP8A1 variants
Pathogenic 1
- p.Leu716Pro No assertion criteria hypercholesterolemia, familial, 1
Likely benign 2
- c.3213-4G>T Single submitter
- p.Val795Ile Single submitter
Uncertain significance 102
- p.Ala1016Pro Single submitter ⚠
- p.Ala1042Thr Single submitter ⚠
- p.Ala1061Thr Single submitter ⚠
- p.Ala430Val Single submitter autism spectrum disorder ⚠
- p.Ala503Val Single submitter ⚠
- p.Ala510Thr Single submitter ⚠
- p.Ala656Gly Single submitter ⚠
- p.Ala752Ser Single submitter
- p.Ala752Thr Single submitter ⚠
- p.Ala826Thr Single submitter ⚠
- p.Ala835Thr Single submitter ⚠
- p.Ala933Gly Single submitter ⚠
- p.Arg1123His Single submitter ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg292Gln Single submitter ⚠
- p.Arg292Trp Single submitter ⚠
- p.Arg513Thr Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg628Gln Single submitter ⚠
- p.Arg725Cys Single submitter ⚠
- p.Asn352Ser Single submitter ⚠
- p.Asn466Tyr Single submitter ⚠
- p.Asn469Asp Single submitter ⚠
- p.Asn842Ile Single submitter
- p.Asn947His Single submitter ⚠
- p.Asp22Gly Single submitter ⚠
- p.Asp22Val Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Asp460Gly Single submitter ⚠
- p.Asp497Tyr Single submitter ⚠
- p.Asp580Gly Single submitter ⚠
- p.Asp618Asn Single submitter ⚠
- p.Asp665Gly Single submitter ⚠
- p.Cys478Arg Single submitter ⚠
- p.Cys478Tyr Single submitter ⚠
- p.Cys945Ser Single submitter ⚠
- p.Gln620Glu Single submitter ⚠
- p.Glu438Lys Single submitter ⚠
- p.Glu621Lys Single submitter ⚠
- p.Glu641Lys Single submitter ⚠
- p.Glu925Lys Single submitter ⚠
- p.Gly239Ala Single submitter ⚠
- p.Gly336Asp Single submitter ⚠
- p.Gly496Asp Single submitter ⚠
- p.Gly496Ser Single submitter ⚠
- p.Gly536Glu Single submitter ⚠
- p.His147Pro Single submitter ⚠
- p.His471Leu Single submitter ⚠
- p.His471Pro Single submitter ⚠
- p.His726Arg Single submitter ⚠
- p.His726Gln Single submitter
- p.Ile1015Val Single submitter ⚠
- p.Ile1024Val Single submitter ⚠
- p.Ile114Leu Single submitter ⚠
- p.Ile266Val Single submitter ⚠
- p.Ile499Thr Single submitter ⚠
- p.Ile578Val Single submitter ⚠
- p.Ile711Thr Single submitter ⚠
- p.Ile772Val Single submitter ⚠
- p.Ile874Val Single submitter ⚠
- p.Leu1087Met Single submitter ⚠
- p.Leu109Ile Single submitter
- p.Leu1121Met Single submitter ⚠
- p.Leu228Val Single submitter ⚠
- p.Leu464Pro Single submitter
- p.Leu547Met Single submitter ⚠
- p.Leu82Val Single submitter ⚠
- p.Leu994Ser Single submitter ⚠
- p.Lys1090Thr Single submitter ⚠
- p.Lys326Arg Single submitter ⚠
- p.Lys498Glu Single submitter ⚠
- p.Lys594Gln Single submitter ⚠
- p.Lys700Arg Single submitter ⚠
- p.Lys736Glu Single submitter ⚠
- p.Met1038Thr Single submitter ⚠
- p.Met1053Ile Single submitter ⚠
- p.Met180Val Single submitter ⚠
- p.Met484Ile Single submitter ⚠
- p.Met484Leu Single submitter ⚠
- p.Phe73Ser Single submitter ⚠
- p.Pro201Thr Single submitter ⚠
- p.Pro224Thr Single submitter ⚠
- p.Ser309Cys Single submitter
- p.Ser338Thr Single submitter ⚠
- p.Ser529Leu Single submitter ⚠
- p.Thr473Ala Single submitter ⚠
- p.Thr473Pro Single submitter ⚠
- p.Thr670Ala Single submitter ⚠
- p.Thr728Ala Single submitter ⚠
- p.Thr729Ala Single submitter ⚠
- p.Thr754Ala Single submitter ⚠
- p.Trp262Cys Single submitter ⚠
- p.Tyr182His Single submitter ⚠
- p.Tyr626Cys Single submitter ⚠
- p.Tyr923Cys Single submitter ⚠
- p.Val1020Ala Single submitter ⚠
- p.Val1020Leu Single submitter ⚠
- p.Val1071Ile Single submitter ⚠
- p.Val232Leu Single submitter ⚠
- p.Val633Ala Single submitter ⚠
- p.Val757Ala Single submitter ⚠
- p.Val943Phe Single submitter ⚠