ATP13A1 — 191 ClinVar variants
All ClinVar germline ATP13A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →
8 Benign · 16 Likely benign · 167 Uncertain significance
Full ATP13A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 169
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 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP13A1 p.Ala10Val Uncertain significance Single submitter
- ATP13A1 p.Ala1184Val Uncertain significance Single submitter
- ATP13A1 p.Ala139Val Uncertain significance Single submitter
- ATP13A1 p.Ala15Thr Uncertain significance Single submitter
- ATP13A1 p.Ala313Ser Uncertain significance Single submitter
- ATP13A1 p.Ala51Ser Uncertain significance Single submitter
- ATP13A1 p.Ala81Thr Uncertain significance Single submitter
- ATP13A1 p.Ala838Thr Uncertain significance Single submitter
- ATP13A1 p.Ala83Val Uncertain significance Single submitter
- ATP13A1 p.Ala871Ser Uncertain significance Single submitter
- ATP13A1 p.Ala880Val Uncertain significance Single submitter
- ATP13A1 p.Arg1033Cys Uncertain significance Single submitter
- ATP13A1 p.Arg1074His Uncertain significance Single submitter
- ATP13A1 p.Arg216Gln Uncertain significance Single submitter
- ATP13A1 p.Arg342Gln Uncertain significance Single submitter
- ATP13A1 p.Arg380Gln Uncertain significance Single submitter
- ATP13A1 p.Arg472Gln Uncertain significance Single submitter
- ATP13A1 p.Arg520Gln Uncertain significance Single submitter
- ATP13A1 p.Arg546His Uncertain significance Single submitter
- ATP13A1 p.Arg569Gln Uncertain significance Single submitter
- ATP13A1 p.Arg839Cys Uncertain significance Single submitter
- ATP13A1 p.Arg894Gln Uncertain significance Single submitter
- ATP13A1 p.Arg939Gln Uncertain significance Single submitter
- ATP13A1 p.Arg978Cys Uncertain significance Single submitter
- ATP13A1 p.Asn296Ser Uncertain significance Single submitter
- ATP13A1 p.Asn884Asp Uncertain significance Single submitter
- ATP13A1 p.Asn884Ser Uncertain significance Single submitter
- ATP13A1 p.Asp1188His Uncertain significance Single submitter
- ATP13A1 p.Asp23Asn Uncertain significance Single submitter
- ATP13A1 p.Cys108Phe Uncertain significance Single submitter
- ATP13A1 p.Cys13Ser Uncertain significance Single submitter
- ATP13A1 p.Gln330Arg Uncertain significance Single submitter
- ATP13A1 p.Gln666His Uncertain significance Single submitter
- ATP13A1 p.Gln781His Uncertain significance Single submitter
- ATP13A1 p.Glu1008Asp Uncertain significance Single submitter
- ATP13A1 p.Glu1082Lys Uncertain significance Single submitter
- ATP13A1 p.Glu173Lys Uncertain significance Single submitter
- ATP13A1 p.Glu349Lys Uncertain significance Single submitter
- ATP13A1 p.Glu48Gly Uncertain significance Single submitter
- ATP13A1 p.Glu528Asp Uncertain significance Single submitter
- ATP13A1 p.Glu703Gln Uncertain significance Single submitter
- ATP13A1 p.Gly1026Ser Uncertain significance Single submitter
- ATP13A1 p.Gly24Arg Uncertain significance Single submitter
- ATP13A1 p.Gly409Arg Uncertain significance Single submitter
- ATP13A1 p.Gly815Ser Uncertain significance Single submitter
- ATP13A1 p.His382Arg Uncertain significance Single submitter
- ATP13A1 p.His695Leu Uncertain significance Single submitter
- ATP13A1 p.Ile1146Thr Uncertain significance Single submitter
- ATP13A1 p.Ile1165Met Uncertain significance Single submitter
- ATP13A1 p.Ile322Val Uncertain significance Single submitter
- ATP13A1 p.Ile325Leu Uncertain significance Single submitter
- ATP13A1 p.Ile364Leu Uncertain significance Single submitter
- ATP13A1 p.Ile394Val Uncertain significance Single submitter
- ATP13A1 p.Leu190Arg Uncertain significance Single submitter
- ATP13A1 p.Leu761Val Uncertain significance Single submitter
- ATP13A1 p.Leu795Met Uncertain significance Single submitter
- ATP13A1 p.Leu827Pro Uncertain significance Single submitter
- ATP13A1 p.Lys1132Asn Uncertain significance Single submitter
- ATP13A1 p.Lys138Arg Uncertain significance Single submitter
- ATP13A1 p.Lys361Gln Uncertain significance Single submitter
- ATP13A1 p.Met1112Leu Uncertain significance Single submitter
- ATP13A1 p.Met272Thr Uncertain significance Single submitter
- ATP13A1 p.Met360Leu Uncertain significance Single submitter
- ATP13A1 p.Met513Thr Uncertain significance Single submitter
- ATP13A1 p.Phe445Leu Uncertain significance Single submitter
- ATP13A1 p.Phe988Leu Uncertain significance Single submitter
- ATP13A1 p.Pro335Leu Uncertain significance Single submitter
- ATP13A1 p.Pro358Ala Uncertain significance Single submitter
- ATP13A1 p.Pro751Leu Uncertain significance Single submitter
- ATP13A1 p.Pro824Leu Uncertain significance Single submitter
- ATP13A1 p.Pro842Ala Uncertain significance Single submitter
- ATP13A1 p.Pro896Leu Uncertain significance Single submitter
- ATP13A1 p.Ser213Leu Uncertain significance Single submitter
- ATP13A1 p.Ser786Phe Uncertain significance Single submitter
- ATP13A1 p.Ser918Leu Uncertain significance Single submitter
- ATP13A1 p.Thr131Ile Uncertain significance Single submitter
- ATP13A1 p.Thr753Ala Uncertain significance Single submitter
- ATP13A1 p.Thr901Ala Uncertain significance Single submitter
- ATP13A1 p.Thr983Ile Uncertain significance Single submitter
- ATP13A1 p.Thr984Met Uncertain significance Single submitter
- ATP13A1 p.Trp257Ser Uncertain significance Single submitter
- ATP13A1 p.Tyr1053Cys Uncertain significance Single submitter
- ATP13A1 p.Tyr56His Uncertain significance Single submitter
- ATP13A1 p.Val1190Ile Uncertain significance Single submitter
- ATP13A1 p.Val192Met Uncertain significance Single submitter
- ATP13A1 p.Val303Gly Uncertain significance Single submitter
- ATP13A1 p.Val357Met Uncertain significance Single submitter
- ATP13A1 p.Val489Met Uncertain significance Single submitter
Predictors split 81
The independent predictors disagree with each other — read with care.
- ATP13A1 p.Glu556Lys Benign Multiple submitters
- ATP13A1 p.Ala38Thr Uncertain significance Single submitter
- ATP13A1 p.Ala457Thr Uncertain significance Single submitter
- ATP13A1 p.Ala687Gly Uncertain significance Single submitter
- ATP13A1 p.Ala6Val Uncertain significance Single submitter
- ATP13A1 p.Arg1079Gln Uncertain significance Single submitter
- ATP13A1 p.Arg1189Cys Uncertain significance Single submitter
- ATP13A1 p.Arg21Trp Uncertain significance Single submitter
- ATP13A1 p.Arg292Gln Uncertain significance Single submitter
- ATP13A1 p.Arg307His Uncertain significance Single submitter
- ATP13A1 p.Arg327His Uncertain significance Single submitter
- ATP13A1 p.Arg344Ser Uncertain significance Single submitter
- ATP13A1 p.Arg371Trp Uncertain significance Single submitter
- ATP13A1 p.Arg63Trp Uncertain significance Single submitter
- ATP13A1 p.Arg742Trp Uncertain significance Single submitter
- ATP13A1 p.Arg780Trp Uncertain significance Single submitter
- ATP13A1 p.Arg785Cys Uncertain significance Single submitter
- ATP13A1 p.Arg829Cys Uncertain significance Single submitter
- ATP13A1 p.Arg892Trp Uncertain significance Single submitter
- ATP13A1 p.Arg895Trp Uncertain significance Single submitter
- ATP13A1 p.Asn1157Ser Uncertain significance Single submitter
- ATP13A1 p.Asn750Ser Uncertain significance Single submitter
- ATP13A1 p.Asp165Tyr Uncertain significance Single submitter
- ATP13A1 p.Asp212Asn Uncertain significance Single submitter
- ATP13A1 p.Asp407Glu Uncertain significance Single submitter
- ATP13A1 p.Asp582Asn Uncertain significance Single submitter
- ATP13A1 p.Asp646Asn Uncertain significance Single submitter
- ATP13A1 p.Cys126Ser Uncertain significance Single submitter
- ATP13A1 p.Cys711Tyr Uncertain significance Single submitter
- ATP13A1 p.Gln579Arg Uncertain significance Single submitter
- ATP13A1 p.Gln579His Uncertain significance Single submitter
- ATP13A1 p.Glu228Lys Uncertain significance Single submitter
- ATP13A1 p.Glu465Gln Uncertain significance Single submitter
- ATP13A1 p.Glu777Lys Uncertain significance Single submitter
- ATP13A1 p.Glu783Gln Uncertain significance Single submitter
- ATP13A1 p.Glu891Lys Uncertain significance Single submitter
- ATP13A1 p.Gly14Arg Uncertain significance Single submitter
- ATP13A1 p.Gly166Arg Likely benign Single submitter
- ATP13A1 p.Gly29Trp Uncertain significance Single submitter
- ATP13A1 p.Gly554Arg Uncertain significance Single submitter
- ATP13A1 p.Gly798Cys Uncertain significance Single submitter
- ATP13A1 p.His159Tyr Uncertain significance Single submitter
- ATP13A1 p.Ile521Val Uncertain significance Single submitter
- ATP13A1 p.Ile674Phe Uncertain significance Single submitter
- ATP13A1 p.Ile791Asn Uncertain significance Single submitter
- ATP13A1 p.Leu1029Phe Uncertain significance Single submitter
- ATP13A1 p.Leu1149Phe Uncertain significance Single submitter
- ATP13A1 p.Leu59Ser Uncertain significance Single submitter
- ATP13A1 p.Leu73Pro Uncertain significance Single submitter
- ATP13A1 p.Leu811Phe Uncertain significance Single submitter
- ATP13A1 p.Met229Ile Uncertain significance Single submitter
- ATP13A1 p.Met300Lys Uncertain significance Single submitter
- ATP13A1 p.Met594Ile Uncertain significance Single submitter
- ATP13A1 p.Phe1066Leu Uncertain significance Single submitter
- ATP13A1 p.Pro1122Leu Uncertain significance Single submitter
- ATP13A1 p.Pro132Ala Uncertain significance Single submitter
- ATP13A1 p.Pro17Leu Uncertain significance Single submitter
- ATP13A1 p.Pro191Leu Uncertain significance Single submitter
- ATP13A1 p.Pro28Ser Uncertain significance Single submitter
- ATP13A1 p.Pro32Thr Uncertain significance Single submitter
- ATP13A1 p.Pro947Ala Uncertain significance Single submitter
- ATP13A1 p.Ser279Leu Uncertain significance Single submitter
- ATP13A1 p.Ser368Asn Uncertain significance Single submitter
- ATP13A1 p.Ser665Phe Uncertain significance Single submitter
- ATP13A1 p.Ser911Cys Uncertain significance Single submitter
- ATP13A1 p.Ser91Asn Uncertain significance Single submitter
- ATP13A1 p.Ser92Ile Uncertain significance Single submitter
- ATP13A1 p.Ser945Arg Uncertain significance Single submitter
- ATP13A1 p.Thr153Met Uncertain significance Single submitter
- ATP13A1 p.Thr401Met Uncertain significance Single submitter
- ATP13A1 p.Thr596Met Uncertain significance Single submitter
- ATP13A1 p.Thr676Ile Uncertain significance Single submitter
- ATP13A1 p.Thr946Arg Uncertain significance Single submitter
- ATP13A1 p.Tyr807Cys Uncertain significance Single submitter
- ATP13A1 p.Tyr857Cys Uncertain significance Single submitter
- ATP13A1 p.Val1088Met Uncertain significance Single submitter
- ATP13A1 p.Val169Met Uncertain significance Single submitter
- ATP13A1 p.Val347Ile Uncertain significance Single submitter
- ATP13A1 p.Val529Met Uncertain significance Single submitter
- ATP13A1 p.Val732Met Uncertain significance Single submitter
- ATP13A1 p.Val792Met Uncertain significance Single submitter
All ATP13A1 variants
Benign 8
- p.Asp788= Multiple submitters
- p.Glu556Lys Multiple submitters ⚠
- p.Leu270= Multiple submitters
- p.Phe1063Leu Multiple submitters
- p.Ser356= Multiple submitters
- p.Ala880= Single submitter
- p.Gln1192= Single submitter
- p.Gly870= Single submitter
Likely benign 16
- p.Gln1086Glu Multiple submitters
- p.Val11= Multiple submitters
- p.Arg436= Single submitter
- p.Arg780Gln Single submitter
- p.Asp374= Single submitter
- p.Cys530= Single submitter
- p.Gly14= Single submitter
- p.Gly166Arg Single submitter ⚠
- p.Ile1055Val Single submitter
- p.Leu449= Single submitter
- p.Leu881= Single submitter
- p.Lys915Arg Single submitter
- p.Pro1081= Single submitter
- p.Ser224Arg Single submitter
- p.Ser408Asn Single submitter
- p.Thr1018= Single submitter
Uncertain significance 167
- p.Ala10Val Single submitter ⚠
- p.Ala1184Val Single submitter ⚠
- p.Ala139Val Single submitter ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala313Ser Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala457Thr Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Ala687Gly Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Ala838Thr Single submitter ⚠
- p.Ala83Val Single submitter ⚠
- p.Ala871Ser Single submitter ⚠
- p.Ala880Val Single submitter ⚠
- p.Arg1033Cys Single submitter ⚠
- p.Arg1074His Single submitter ⚠
- p.Arg1079Gln Single submitter ⚠
- p.Arg1189Cys Single submitter ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg21Trp Single submitter ⚠
- p.Arg292Gln Single submitter ⚠
- p.Arg307His Single submitter ⚠
- p.Arg327His Single submitter ⚠
- p.Arg342Gln Single submitter ⚠
- p.Arg344Ser Single submitter ⚠
- p.Arg371Trp Single submitter ⚠
- p.Arg380Gln Single submitter ⚠
- p.Arg472Gln Single submitter ⚠
- p.Arg520Gln Single submitter ⚠
- p.Arg546His Single submitter ⚠
- p.Arg569Gln Single submitter ⚠
- p.Arg63Trp Single submitter ⚠
- p.Arg742Trp Single submitter ⚠
- p.Arg780Trp Single submitter ⚠
- p.Arg785Cys Single submitter ⚠
- p.Arg829Cys Single submitter ⚠
- p.Arg839Cys Single submitter ⚠
- p.Arg892Trp Single submitter ⚠
- p.Arg894Gln Single submitter ⚠
- p.Arg895Trp Single submitter ⚠
- p.Arg939Gln Single submitter ⚠
- p.Arg978Cys Single submitter ⚠
- p.Asn1157Ser Single submitter ⚠
- p.Asn296Ser Single submitter ⚠
- p.Asn750Ser Single submitter ⚠
- p.Asn884Asp Single submitter ⚠
- p.Asn884Ser Single submitter ⚠
- p.Asp1188His Single submitter ⚠
- p.Asp165Tyr Single submitter ⚠
- p.Asp212Asn Single submitter ⚠
- p.Asp23Asn Single submitter ⚠
- p.Asp407Glu Single submitter ⚠
- p.Asp582Asn Single submitter ⚠
- p.Asp646Asn Single submitter ⚠
- p.Cys108Phe Single submitter ⚠
- p.Cys126Ser Single submitter ⚠
- p.Cys13Ser Single submitter ⚠
- p.Cys711Tyr Single submitter ⚠
- p.Gln330Arg Single submitter ⚠
- p.Gln579Arg Single submitter ⚠
- p.Gln579His Single submitter ⚠
- p.Gln666His Single submitter ⚠
- p.Gln781His Single submitter ⚠
- p.Glu1008Asp Single submitter ⚠
- p.Glu1082Lys Single submitter ⚠
- p.Glu173Lys Single submitter ⚠
- p.Glu228Lys Single submitter ⚠
- p.Glu349Lys Single submitter ⚠
- p.Glu465Gln Single submitter ⚠
- p.Glu48Gly Single submitter ⚠
- p.Glu528Asp Single submitter ⚠
- p.Glu703Gln Single submitter ⚠
- p.Glu777Lys Single submitter ⚠
- p.Glu783Gln Single submitter ⚠
- p.Glu891Lys Single submitter ⚠
- p.Gly1026Ser Single submitter ⚠
- p.Gly14Arg Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly29Trp Single submitter ⚠
- p.Gly409Arg Single submitter ⚠
- p.Gly554Arg Single submitter ⚠
- p.Gly798Cys Single submitter ⚠
- p.Gly815Ser Single submitter ⚠
- p.His159Tyr Single submitter ⚠
- p.His382Arg Single submitter ⚠
- p.His695Leu Single submitter ⚠
- p.Ile1146Thr Single submitter ⚠
- p.Ile1165Met Single submitter ⚠
- p.Ile322Val Single submitter ⚠
- p.Ile325Leu Single submitter ⚠
- p.Ile364Leu Single submitter ⚠
- p.Ile394Val Single submitter ⚠
- p.Ile521Val Single submitter ⚠
- p.Ile674Phe Single submitter ⚠
- p.Ile791Asn Single submitter ⚠
- p.Leu1029Phe Single submitter ⚠
- p.Leu1149Phe Single submitter ⚠
- p.Leu190Arg Single submitter ⚠
- p.Leu59Ser Single submitter ⚠
- p.Leu73Pro Single submitter ⚠
- p.Leu761Val Single submitter ⚠
- p.Leu795Met Single submitter ⚠
- p.Leu811Phe Single submitter ⚠
- p.Leu827Pro Single submitter ⚠
- p.Lys1132Asn Single submitter ⚠
- p.Lys138Arg Single submitter ⚠
- p.Lys361Gln Single submitter ⚠
- p.Met1112Leu Single submitter ⚠
- p.Met229Ile Single submitter ⚠
- p.Met272Thr Single submitter ⚠
- p.Met300Lys Single submitter ⚠
- p.Met360Leu Single submitter ⚠
- p.Met513Thr Single submitter ⚠
- p.Met594Ile Single submitter ⚠
- p.Phe1066Leu Single submitter ⚠
- p.Phe445Leu Single submitter ⚠
- p.Phe988Leu Single submitter ⚠
- p.Pro1122Leu Single submitter ⚠
- p.Pro132Ala Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro191Leu Single submitter ⚠
- p.Pro28Ser Single submitter ⚠
- p.Pro32Thr Single submitter ⚠
- p.Pro335Leu Single submitter ⚠
- p.Pro358Ala Single submitter ⚠
- p.Pro751Leu Single submitter ⚠
- p.Pro824Leu Single submitter ⚠
- p.Pro842Ala Single submitter ⚠
- p.Pro896Leu Single submitter ⚠
- p.Pro947Ala Single submitter ⚠
- p.Ser213Leu Single submitter ⚠
- p.Ser279Leu Single submitter ⚠
- p.Ser368Asn Single submitter ⚠
- p.Ser665Phe Single submitter ⚠
- p.Ser786Phe Single submitter ⚠
- p.Ser911Cys Single submitter ⚠
- p.Ser918Leu Single submitter ⚠
- p.Ser91Asn Single submitter ⚠
- p.Ser92Ile Single submitter ⚠
- p.Ser945Arg Single submitter ⚠
- p.Thr131Ile Single submitter ⚠
- p.Thr153Met Single submitter ⚠
- p.Thr401Met Single submitter ⚠
- p.Thr596Met Single submitter ⚠
- p.Thr676Ile Single submitter ⚠
- p.Thr753Ala Single submitter ⚠
- p.Thr901Ala Single submitter ⚠
- p.Thr946Arg Single submitter ⚠
- p.Thr983Ile Single submitter ⚠
- p.Thr984Met Single submitter ⚠
- p.Trp257Ser Single submitter ⚠
- p.Tyr1053Cys Single submitter ⚠
- p.Tyr56His Single submitter ⚠
- p.Tyr807Cys Single submitter ⚠
- p.Tyr857Cys Single submitter ⚠
- p.Val1088Met Single submitter ⚠
- p.Val1190Ile Single submitter ⚠
- p.Val169Met Single submitter ⚠
- p.Val192Met Single submitter ⚠
- p.Val303Gly Single submitter ⚠
- p.Val347Ile Single submitter ⚠
- p.Val357Met Single submitter ⚠
- p.Val489Met Single submitter ⚠
- p.Val529Met Single submitter ⚠
- p.Val732Met Single submitter ⚠
- p.Val792Met Single submitter ⚠