ATP9B — 186 ClinVar variants
All ClinVar germline ATP9B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →
5 Benign · 11 Likely benign · 170 Uncertain significance
Full ATP9B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 172
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 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP9B p.Ala1049Thr Uncertain significance Single submitter
- ATP9B p.Ala1085Thr Uncertain significance Single submitter
- ATP9B p.Ala24Gly Uncertain significance Single submitter
- ATP9B p.Ala24Val Uncertain significance Single submitter
- ATP9B p.Ala280Val Uncertain significance Single submitter
- ATP9B p.Ala48Val Uncertain significance Single submitter
- ATP9B p.Ala513Thr Uncertain significance Single submitter
- ATP9B p.Ala593Thr Uncertain significance Single submitter
- ATP9B p.Ala758Thr Uncertain significance Single submitter
- ATP9B p.Ala801Pro Uncertain significance Single submitter
- ATP9B p.Ala899Val Uncertain significance Single submitter
- ATP9B p.Arg109Gly Uncertain significance Single submitter
- ATP9B p.Arg116His Uncertain significance Single submitter
- ATP9B p.Arg116Leu Uncertain significance Single submitter
- ATP9B p.Arg11Cys Uncertain significance Single submitter
- ATP9B p.Arg196Gln Uncertain significance Single submitter
- ATP9B p.Arg196Trp Uncertain significance Single submitter
- ATP9B p.Arg204His Uncertain significance Single submitter
- ATP9B p.Arg207His Uncertain significance Single submitter
- ATP9B p.Arg20Gly Uncertain significance Single submitter
- ATP9B p.Arg20Ser Uncertain significance Single submitter
- ATP9B p.Arg22Pro Uncertain significance Single submitter
- ATP9B p.Arg411Gln Uncertain significance Single submitter
- ATP9B p.Arg425His Uncertain significance Single submitter
- ATP9B p.Arg608Gly Uncertain significance Single submitter
- ATP9B p.Arg639Gln Uncertain significance Single submitter
- ATP9B p.Arg682Ser Uncertain significance Single submitter
- ATP9B p.Arg686Trp Uncertain significance Single submitter
- ATP9B p.Arg74Gln Uncertain significance Single submitter
- ATP9B p.Arg793Lys Uncertain significance Single submitter
- ATP9B p.Arg798Trp Uncertain significance Single submitter
- ATP9B p.Arg848Cys Uncertain significance Single submitter
- ATP9B p.Arg856Leu Uncertain significance Single submitter
- ATP9B p.Arg927Lys Uncertain significance Single submitter
- ATP9B p.Asn408Ser Uncertain significance Single submitter
- ATP9B p.Asn581Ser Uncertain significance Single submitter
- ATP9B p.Asp1001His Uncertain significance Single submitter
- ATP9B p.Asp308Gly Uncertain significance Single submitter
- ATP9B p.Asp3Glu Uncertain significance Single submitter
- ATP9B p.Asp742Glu Uncertain significance Single submitter
- ATP9B p.Cys736Ser Uncertain significance Single submitter
- ATP9B p.Glu636Lys Uncertain significance Single submitter
- ATP9B p.Glu836Asp Uncertain significance Single submitter
- ATP9B p.Gly486Asp Uncertain significance Single submitter
- ATP9B p.Gly61Arg Uncertain significance Single submitter
- ATP9B p.Gly873Val Uncertain significance Single submitter
- ATP9B p.Gly91Ser Uncertain significance Single submitter
- ATP9B p.His49Leu Uncertain significance Single submitter
- ATP9B p.His812Gln Uncertain significance Single submitter
- ATP9B p.Ile106Thr Uncertain significance Single submitter
- ATP9B p.Ile331Val Uncertain significance Single submitter
- ATP9B p.Ile393Ser Uncertain significance Single submitter
- ATP9B p.Ile5Phe Uncertain significance Single submitter
- ATP9B p.Ile891Phe Uncertain significance Single submitter
- ATP9B p.Ile891Thr Uncertain significance Single submitter
- ATP9B p.Ile913Leu Uncertain significance Single submitter
- ATP9B p.Ile941Thr Uncertain significance Single submitter
- ATP9B p.Leu409Phe Uncertain significance Single submitter
- ATP9B p.Leu744Met Uncertain significance Single submitter
- ATP9B p.Leu803Ser Uncertain significance Single submitter
- ATP9B p.Leu965Phe Uncertain significance Single submitter
- ATP9B p.Leu965Val Uncertain significance Single submitter
- ATP9B p.Met395Thr Uncertain significance Single submitter
- ATP9B p.Met430Ile Uncertain significance Single submitter
- ATP9B p.Met439Leu Uncertain significance Single submitter
- ATP9B p.Met663Val Uncertain significance Single submitter
- ATP9B p.Met991Lys Uncertain significance Single submitter
- ATP9B p.Met991Val Uncertain significance Single submitter
- ATP9B p.Phe1101Ser Uncertain significance Single submitter
- ATP9B p.Phe910Leu Uncertain significance Single submitter
- ATP9B p.Pro6Gln Uncertain significance Single submitter
- ATP9B p.Pro996Leu Uncertain significance Single submitter
- ATP9B p.Ser1046Phe Uncertain significance Single submitter
- ATP9B p.Ser511Thr Uncertain significance Single submitter
- ATP9B p.Ser637Arg Uncertain significance Single submitter
- ATP9B p.Ser705Arg Uncertain significance Single submitter
- ATP9B p.Ser924Asn Uncertain significance Single submitter
- ATP9B p.Thr117Pro Uncertain significance Single submitter
- ATP9B p.Thr696Ile Uncertain significance Single submitter
- ATP9B p.Thr796Asn Uncertain significance Single submitter
- ATP9B p.Trp86Cys Uncertain significance Single submitter
- ATP9B p.Tyr182Cys Uncertain significance Single submitter
- ATP9B p.Tyr584Cys Uncertain significance Single submitter
- ATP9B p.Tyr925Cys Uncertain significance Single submitter
- ATP9B p.Tyr925His Uncertain significance Single submitter
- ATP9B p.Val240Met Uncertain significance Single submitter
- ATP9B p.Val667Met Uncertain significance Single submitter
- ATP9B p.Val689Met Uncertain significance Single submitter
- ATP9B p.Val748Met Uncertain significance Single submitter
Predictors split 83
The independent predictors disagree with each other — read with care.
- ATP9B p.Thr353Ala Uncertain significance Multiple submitters
- ATP9B p.Ala1044Val Uncertain significance Single submitter
- ATP9B p.Ala1085Pro Uncertain significance Single submitter
- ATP9B p.Ala14Pro Uncertain significance Single submitter
- ATP9B p.Ala184Thr Uncertain significance Single submitter
- ATP9B p.Ala280Thr Uncertain significance Single submitter
- ATP9B p.Ala337Thr Uncertain significance Single submitter
- ATP9B p.Ala723Thr Uncertain significance Single submitter
- ATP9B p.Ala723Val Uncertain significance Single submitter
- ATP9B p.Arg1063His Uncertain significance Single submitter
- ATP9B p.Arg1135His Uncertain significance Single submitter
- ATP9B p.Arg204Cys Uncertain significance Single submitter
- ATP9B p.Arg22Leu Uncertain significance Single submitter
- ATP9B p.Arg265Gln Uncertain significance Single submitter
- ATP9B p.Arg318Lys Uncertain significance Single submitter
- ATP9B p.Arg37Trp Uncertain significance Single submitter
- ATP9B p.Arg407His Uncertain significance Single submitter
- ATP9B p.Arg482Gln Uncertain significance Single submitter
- ATP9B p.Arg706Gln Uncertain significance Single submitter
- ATP9B p.Arg756Cys Uncertain significance Single submitter
- ATP9B p.Arg756His Uncertain significance Single submitter
- ATP9B p.Arg856Cys Likely benign Single submitter
- ATP9B p.Arg868His Uncertain significance Single submitter
- ATP9B p.Arg911Gln Uncertain significance Single submitter
- ATP9B p.Arg911Leu Uncertain significance Single submitter
- ATP9B p.Asn378Ser Uncertain significance Single submitter
- ATP9B p.Asp308Asn Uncertain significance Single submitter
- ATP9B p.Asp3Tyr Uncertain significance Single submitter
- ATP9B p.Asp496Gly Uncertain significance Single submitter
- ATP9B p.Cys167Ser Uncertain significance Single submitter
- ATP9B p.Gln840His Uncertain significance Single submitter
- ATP9B p.Gln909Arg Uncertain significance Single submitter
- ATP9B p.Glu1073Lys Uncertain significance Single submitter
- ATP9B p.Glu210Gln Uncertain significance Single submitter
- ATP9B p.Glu636Gln Uncertain significance Single submitter
- ATP9B p.Glu65Lys Uncertain significance Single submitter
- ATP9B p.Glu990Asp Uncertain significance Single submitter
- ATP9B p.Gly866Ala Uncertain significance Single submitter
- ATP9B p.Gly932Ser Uncertain significance Single submitter
- ATP9B p.Ile347Leu Uncertain significance Single submitter
- ATP9B p.Ile351Leu Uncertain significance Single submitter
- ATP9B p.Ile445Val Uncertain significance Single submitter
- ATP9B p.Ile5Asn Uncertain significance Single submitter
- ATP9B p.Ile5Ser Uncertain significance Single submitter
- ATP9B p.Ile762Thr Uncertain significance Single submitter
- ATP9B p.Leu1034Val Uncertain significance Single submitter
- ATP9B p.Leu277Val Uncertain significance Single submitter
- ATP9B p.Leu466Phe Uncertain significance Single submitter
- ATP9B p.Leu719Phe Uncertain significance Single submitter
- ATP9B p.Leu755Val Uncertain significance Single submitter
- ATP9B p.Lys720Arg Uncertain significance Single submitter
- ATP9B p.Lys761Arg Uncertain significance Single submitter
- ATP9B p.Lys778Arg Uncertain significance Single submitter
- ATP9B p.Met438Val Uncertain significance Single submitter
- ATP9B p.Met495Val Uncertain significance Single submitter
- ATP9B p.Phe170Val Uncertain significance Single submitter
- ATP9B p.Pro6Leu Uncertain significance Single submitter
- ATP9B p.Pro9Leu Uncertain significance Single submitter
- ATP9B p.Ser1007Thr Uncertain significance Single submitter
- ATP9B p.Ser1117Trp Uncertain significance Single submitter
- ATP9B p.Ser248Leu Uncertain significance Single submitter
- ATP9B p.Ser27Ile Uncertain significance Single submitter
- ATP9B p.Ser39Asn Uncertain significance Single submitter
- ATP9B p.Ser489Cys Uncertain significance Single submitter
- ATP9B p.Ser619Gly Likely benign Single submitter
- ATP9B p.Ser924Gly Uncertain significance Single submitter
- ATP9B p.Thr117Ile Uncertain significance Single submitter
- ATP9B p.Thr315Ala Uncertain significance Single submitter
- ATP9B p.Thr604Met Uncertain significance Single submitter
- ATP9B p.Thr611Ile Uncertain significance Single submitter
- ATP9B p.Thr751Met Uncertain significance Single submitter
- ATP9B p.Thr852Ile Uncertain significance Single submitter
- ATP9B p.Tyr490Phe Uncertain significance Single submitter
- ATP9B p.Val1033Ala Uncertain significance Single submitter
- ATP9B p.Val1042Met Uncertain significance Single submitter
- ATP9B p.Val1070Ala Uncertain significance Single submitter
- ATP9B p.Val1071Ala Uncertain significance Single submitter
- ATP9B p.Val227Ile Uncertain significance Single submitter
- ATP9B p.Val251Met Uncertain significance Single submitter
- ATP9B p.Val557Gly Uncertain significance Single submitter
- ATP9B p.Val592Ile Uncertain significance Single submitter
- ATP9B p.Val644Ile Uncertain significance Single submitter
- ATP9B p.Val661Met Uncertain significance Single submitter
All ATP9B variants
Benign 5
- p.Asp504Asn Multiple submitters
- p.Leu384= Multiple submitters
- p.Phe570= Multiple submitters
- p.Thr117= Multiple submitters
- c.2112+3G>A Single submitter
Likely benign 11
- c.2472+7C>G Single submitter
- p.Ala16= Single submitter
- p.Ala492= Single submitter
- p.Ala513Asp Single submitter
- p.Arg379Gln Single submitter
- p.Arg561Gln Single submitter
- p.Arg856Cys Single submitter ⚠
- p.Gly1024= Single submitter
- p.Ile104Val Single submitter
- p.Leu1113= Single submitter
- p.Ser619Gly Single submitter ⚠
Uncertain significance 170
- p.Thr353Ala Multiple submitters ⚠
- p.Ala1044Val Single submitter ⚠
- p.Ala1049Thr Single submitter ⚠
- p.Ala1085Pro Single submitter ⚠
- p.Ala1085Thr Single submitter ⚠
- p.Ala14Pro Single submitter ⚠
- p.Ala184Thr Single submitter ⚠
- p.Ala24Gly Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala280Thr Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Ala337Thr Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala513Thr Single submitter ⚠
- p.Ala593Thr Single submitter ⚠
- p.Ala723Thr Single submitter ⚠
- p.Ala723Val Single submitter ⚠
- p.Ala758Thr Single submitter ⚠
- p.Ala801Pro Single submitter ⚠
- p.Ala899Val Single submitter ⚠
- p.Arg1063His Single submitter ⚠
- p.Arg109Gly Single submitter ⚠
- p.Arg1135His Single submitter ⚠
- p.Arg116His Single submitter ⚠
- p.Arg116Leu Single submitter ⚠
- p.Arg11Cys Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg196Trp Single submitter ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg204His Single submitter ⚠
- p.Arg207His Single submitter ⚠
- p.Arg20Gly Single submitter ⚠
- p.Arg20Ser Single submitter ⚠
- p.Arg22Leu Single submitter ⚠
- p.Arg22Pro Single submitter ⚠
- p.Arg265Gln Single submitter ⚠
- p.Arg318Lys Single submitter ⚠
- p.Arg37Trp Single submitter ⚠
- p.Arg407His Single submitter ⚠
- p.Arg411Gln Single submitter ⚠
- p.Arg425His Single submitter ⚠
- p.Arg482Gln Single submitter ⚠
- p.Arg608Gly Single submitter ⚠
- p.Arg639Gln Single submitter ⚠
- p.Arg682Ser Single submitter ⚠
- p.Arg686Trp Single submitter ⚠
- p.Arg706Gln Single submitter ⚠
- p.Arg74Gln Single submitter ⚠
- p.Arg756Cys Single submitter ⚠
- p.Arg756His Single submitter ⚠
- p.Arg793Lys Single submitter ⚠
- p.Arg798Trp Single submitter ⚠
- p.Arg848Cys Single submitter ⚠
- p.Arg856Leu Single submitter ⚠
- p.Arg868His Single submitter ⚠
- p.Arg911Gln Single submitter ⚠
- p.Arg911Leu Single submitter ⚠
- p.Arg927Lys Single submitter ⚠
- p.Asn378Ser Single submitter ⚠
- p.Asn408Ser Single submitter ⚠
- p.Asn581Ser Single submitter ⚠
- p.Asp1001His Single submitter ⚠
- p.Asp308Asn Single submitter ⚠
- p.Asp308Gly Single submitter ⚠
- p.Asp3Glu Single submitter ⚠
- p.Asp3Tyr Single submitter ⚠
- p.Asp496Gly Single submitter ⚠
- p.Asp742Glu Single submitter ⚠
- p.Cys167Ser Single submitter ⚠
- p.Cys736Ser Single submitter ⚠
- p.Gln840His Single submitter ⚠
- p.Gln909Arg Single submitter ⚠
- p.Glu1073Lys Single submitter ⚠
- p.Glu210Gln Single submitter ⚠
- p.Glu636Gln Single submitter ⚠
- p.Glu636Lys Single submitter ⚠
- p.Glu65Lys Single submitter ⚠
- p.Glu836Asp Single submitter ⚠
- p.Glu990Asp Single submitter ⚠
- p.Gly486Asp Single submitter ⚠
- p.Gly61Arg Single submitter ⚠
- p.Gly866Ala Single submitter ⚠
- p.Gly873Val Single submitter ⚠
- p.Gly91Ser Single submitter ⚠
- p.Gly932Ser Single submitter ⚠
- p.His49Leu Single submitter ⚠
- p.His812Gln Single submitter ⚠
- p.Ile106Thr Single submitter ⚠
- p.Ile331Val Single submitter ⚠
- p.Ile347Leu Single submitter ⚠
- p.Ile351Leu Single submitter ⚠
- p.Ile393Ser Single submitter ⚠
- p.Ile445Val Single submitter ⚠
- p.Ile5Asn Single submitter ⚠
- p.Ile5Phe Single submitter ⚠
- p.Ile5Ser Single submitter ⚠
- p.Ile762Thr Single submitter ⚠
- p.Ile891Phe Single submitter ⚠
- p.Ile891Thr Single submitter ⚠
- p.Ile913Leu Single submitter ⚠
- p.Ile941Thr Single submitter ⚠
- p.Leu1034Val Single submitter ⚠
- p.Leu277Val Single submitter ⚠
- p.Leu409Phe Single submitter ⚠
- p.Leu466Phe Single submitter ⚠
- p.Leu719Phe Single submitter ⚠
- p.Leu744Met Single submitter ⚠
- p.Leu755Val Single submitter ⚠
- p.Leu803Ser Single submitter ⚠
- p.Leu965Phe Single submitter ⚠
- p.Leu965Val Single submitter ⚠
- p.Lys720Arg Single submitter ⚠
- p.Lys761Arg Single submitter ⚠
- p.Lys778Arg Single submitter ⚠
- p.Met395Thr Single submitter ⚠
- p.Met430Ile Single submitter ⚠
- p.Met438Val Single submitter ⚠
- p.Met439Leu Single submitter ⚠
- p.Met495Val Single submitter ⚠
- p.Met663Val Single submitter ⚠
- p.Met991Lys Single submitter ⚠
- p.Met991Val Single submitter ⚠
- p.Phe1101Ser Single submitter ⚠
- p.Phe170Val Single submitter ⚠
- p.Phe910Leu Single submitter ⚠
- p.Pro6Gln Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Pro996Leu Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser1007Thr Single submitter ⚠
- p.Ser1046Phe Single submitter ⚠
- p.Ser1117Trp Single submitter ⚠
- p.Ser248Leu Single submitter ⚠
- p.Ser27Ile Single submitter ⚠
- p.Ser39Asn Single submitter ⚠
- p.Ser489Cys Single submitter ⚠
- p.Ser511Thr Single submitter ⚠
- p.Ser637Arg Single submitter ⚠
- p.Ser705Arg Single submitter ⚠
- p.Ser924Asn Single submitter ⚠
- p.Ser924Gly Single submitter ⚠
- p.Thr117Ile Single submitter ⚠
- p.Thr117Pro Single submitter ⚠
- p.Thr315Ala Single submitter ⚠
- p.Thr604Met Single submitter ⚠
- p.Thr611Ile Single submitter ⚠
- p.Thr696Ile Single submitter ⚠
- p.Thr751Met Single submitter ⚠
- p.Thr796Asn Single submitter ⚠
- p.Thr852Ile Single submitter ⚠
- p.Trp86Cys Single submitter ⚠
- p.Tyr182Cys Single submitter ⚠
- p.Tyr490Phe Single submitter ⚠
- p.Tyr584Cys Single submitter ⚠
- p.Tyr925Cys Single submitter ⚠
- p.Tyr925His Single submitter ⚠
- p.Val1033Ala Single submitter ⚠
- p.Val1042Met Single submitter ⚠
- p.Val1070Ala Single submitter ⚠
- p.Val1071Ala Single submitter ⚠
- p.Val227Ile Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val251Met Single submitter ⚠
- p.Val557Gly Single submitter ⚠
- p.Val592Ile Single submitter ⚠
- p.Val644Ile Single submitter ⚠
- p.Val661Met Single submitter ⚠
- p.Val667Met Single submitter ⚠
- p.Val689Met Single submitter ⚠
- p.Val748Met Single submitter ⚠