ATP13A5 — 168 ClinVar variants

All ClinVar germline ATP13A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

2 Benign · 9 Likely benign · 157 Uncertain significance

Full ATP13A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 117

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 28

The independent predictors disagree with each other — read with care.

All ATP13A5 variants

Benign 2

p.Lys124= Multiple submitters
p.Leu1218fs Single submitter

Likely benign 9

p.Gln355Ter Multiple submitters
p.Arg1102His Single submitter
p.Arg27Gln Single submitter
p.Arg712Cys Single submitter
p.Asp748Asn Single submitter
p.Gln327His Single submitter
p.Met132Ile Single submitter
p.Pro283= Single submitter
p.Ser990= Single submitter

Uncertain significance 157

p.Thr879Ile Multiple submitters
p.Ala121Thr Single submitter ⚠
p.Ala366Val Single submitter ⚠
p.Ala39Pro Single submitter ⚠
p.Ala591Ser Single submitter ⚠
p.Ala747Thr Single submitter ⚠
p.Ala898Gly Single submitter ⚠
p.Arg1102Cys Single submitter ⚠
p.Arg130Gln Single submitter ⚠
p.Arg180Ser Single submitter
p.Arg279His Single submitter ⚠
p.Arg32Gln Single submitter ⚠
p.Arg606Lys Single submitter ⚠
p.Arg656His Single submitter ⚠
p.Arg696Cys Single submitter ⚠
p.Arg696Ser Single submitter
p.Arg786Cys Single submitter ⚠
p.Arg786His Single submitter ⚠
p.Arg786Leu Single submitter ⚠
p.Arg87Lys Single submitter ⚠
p.Arg896Gln Single submitter ⚠
p.Asn1075Lys Single submitter ⚠
p.Asn1174Ser Single submitter ⚠
p.Asn260Ser Single submitter ⚠
p.Asn454Lys Single submitter ⚠
p.Asn765Lys Single submitter ⚠
p.Asp1133His Single submitter ⚠
p.Asp1181Asn Single submitter ⚠
p.Asp143Gly Single submitter ⚠
p.Asp28Gly Single submitter ⚠
p.Asp397Asn Single submitter ⚠
p.Asp562Gly Single submitter ⚠
p.Asp8Glu Single submitter ⚠
p.Cys1126Arg Single submitter ⚠
p.Cys484Tyr Single submitter ⚠
p.Cys508Trp Single submitter ⚠
p.Cys792Arg Single submitter ⚠
p.Gln1015His Single submitter ⚠
p.Gln1197Arg Single submitter ⚠
p.Gln248Leu Single submitter ⚠
p.Gln761Lys Single submitter ⚠
p.Gln766His Single submitter ⚠
p.Gln988His Single submitter
p.Glu1140Gln Single submitter ⚠
p.Glu145Gly Single submitter ⚠
p.Glu225Asp Single submitter ⚠
p.Glu774Lys Single submitter ⚠
p.Gly16Glu Single submitter ⚠
p.Gly360Trp Single submitter ⚠
p.Gly541Arg Single submitter ⚠
p.Gly541Trp Single submitter
p.Gly895Ala Single submitter ⚠
p.Gly913Ser Single submitter ⚠
p.Gly966Glu Single submitter
p.His662Asn Single submitter ⚠
p.Ile1061Thr Single submitter ⚠
p.Ile1107Val Single submitter ⚠
p.Ile1173Lys Single submitter ⚠
p.Ile1198Val Single submitter ⚠
p.Ile230Val Single submitter ⚠
p.Ile236Val Single submitter ⚠
p.Ile267Thr Single submitter ⚠
p.Ile466Leu Single submitter ⚠
p.Ile564Val Single submitter ⚠
p.Ile658Val Single submitter ⚠
p.Ile713Thr Single submitter ⚠
p.Ile736Phe Single submitter
p.Ile775Met Single submitter ⚠
p.Ile989Asn Single submitter ⚠
p.Ile989Phe Single submitter ⚠
p.Leu1083Pro Single submitter ⚠
p.Leu1218Arg Single submitter ⚠
p.Leu289Phe Single submitter ⚠
p.Leu438His Single submitter ⚠
p.Leu47Val Single submitter ⚠
p.Leu660Phe Single submitter ⚠
p.Leu817Pro Single submitter ⚠
p.Leu834Ile Single submitter ⚠
p.Leu899Arg Single submitter ⚠
p.Leu923Arg Single submitter ⚠
p.Leu975Phe Single submitter ⚠
p.Lys105Arg Single submitter ⚠
p.Lys1162Gln Single submitter ⚠
p.Lys335Glu Single submitter ⚠
p.Lys400Gln Single submitter ⚠
p.Lys99Gln Single submitter ⚠
p.Met132Thr Single submitter ⚠
p.Met476Ile Single submitter ⚠
p.Met693Thr Single submitter ⚠
p.Phe1091Leu Single submitter ⚠
p.Phe1151Cys Single submitter ⚠
p.Phe1186Leu Single submitter ⚠
p.Phe148Leu Single submitter ⚠
p.Phe207Leu Single submitter ⚠
p.Phe210Ser Single submitter ⚠
p.Phe392Cys Single submitter ⚠
p.Phe467Ile Single submitter ⚠
p.Phe823fs Single submitter
p.Phe903Val Single submitter ⚠
p.Pro319His Single submitter ⚠
p.Pro326Leu Single submitter ⚠
p.Pro387Leu Single submitter ⚠
p.Pro443Thr Single submitter ⚠
p.Pro580Ser Single submitter
p.Pro738Ala Single submitter ⚠
p.Pro770Arg Single submitter ⚠
p.Pro877Thr Single submitter
p.Pro972Ala Single submitter ⚠
p.Pro972Leu Single submitter ⚠
p.Pro999Arg Single submitter ⚠
p.Ser103Arg Single submitter ⚠
p.Ser1112Leu Single submitter ⚠
p.Ser161Cys Single submitter ⚠
p.Ser278Phe Single submitter ⚠
p.Ser517Leu Single submitter ⚠
p.Ser601Phe Single submitter ⚠
p.Ser603Arg Single submitter ⚠
p.Ser783Leu Single submitter ⚠
p.Ser868Leu Single submitter
p.Ser952Leu Single submitter ⚠
p.Ser990Asn Single submitter ⚠
p.Thr1074Ile Single submitter ⚠
p.Thr1210Arg Single submitter ⚠
p.Thr234Pro Single submitter ⚠
p.Thr265Ala Single submitter ⚠
p.Thr314Ile Single submitter ⚠
p.Thr323Ala Single submitter ⚠
p.Thr725Ala Single submitter ⚠
p.Thr725Met Single submitter ⚠
p.Thr779Ala Single submitter ⚠
p.Thr910Ile Single submitter ⚠
p.Trp1215Arg Single submitter ⚠
p.Trp523Arg Single submitter ⚠
p.Tyr208Cys Single submitter ⚠
p.Tyr415Cys Single submitter ⚠
p.Tyr422Cys Single submitter ⚠
p.Tyr94Cys Single submitter ⚠
p.Val1131Ile Single submitter ⚠
p.Val182Leu Single submitter ⚠
p.Val200Leu Single submitter ⚠
p.Val256Met Single submitter
p.Val264Ala Single submitter ⚠
p.Val307Met Single submitter ⚠
p.Val346Ile Single submitter ⚠
p.Val356Leu Single submitter ⚠
p.Val368Ile Single submitter ⚠
p.Val403Met Single submitter ⚠
p.Val425Ile Single submitter ⚠
p.Val455Met Single submitter ⚠
p.Val483Met Single submitter ⚠
p.Val565Leu Single submitter ⚠
p.Val609Met Single submitter ⚠
p.Val621Ile Single submitter ⚠
p.Val652Met Single submitter ⚠
p.Val763Leu Single submitter ⚠
p.Val818Ala Single submitter ⚠
p.Val900Ile Single submitter ⚠