ATP13A4 — 208 ClinVar variants
All ClinVar germline ATP13A4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →
1 Conflicting · 11 Benign · 22 Likely benign · 174 Uncertain significance
Full ATP13A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 178
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP13A4 p.Ala100Ser Uncertain significance Single submitter
- ATP13A4 p.Ala1053Pro Uncertain significance Single submitter
- ATP13A4 p.Ala10Ser Uncertain significance Single submitter
- ATP13A4 p.Ala10Thr Uncertain significance Single submitter
- ATP13A4 p.Ala340Val Uncertain significance Single submitter
- ATP13A4 p.Ala441Val Uncertain significance Single submitter
- ATP13A4 p.Ala576Thr Uncertain significance Single submitter
- ATP13A4 p.Ala724Thr Uncertain significance Single submitter
- ATP13A4 p.Ala855Thr Uncertain significance Single submitter
- ATP13A4 p.Ala984Val Uncertain significance Single submitter
- ATP13A4 p.Ala988Ser Uncertain significance Single submitter
- ATP13A4 p.Arg1097His Uncertain significance Single submitter
- ATP13A4 p.Arg1152Gln Uncertain significance Single submitter
- ATP13A4 p.Arg1180Lys Uncertain significance Single submitter
- ATP13A4 p.Arg278Cys Uncertain significance Single submitter
- ATP13A4 p.Arg365Lys Uncertain significance Single submitter
- ATP13A4 p.Arg894His Uncertain significance Single submitter
- ATP13A4 p.Arg965Gln Uncertain significance Single submitter
- ATP13A4 p.Asn1030Ser Uncertain significance Single submitter
- ATP13A4 p.Asn1048Ser Uncertain significance Single submitter
- ATP13A4 p.Asn141Ser Uncertain significance Single submitter
- ATP13A4 p.Asn746Asp Uncertain significance Single submitter
- ATP13A4 p.Asn851Lys Uncertain significance Single submitter
- ATP13A4 p.Asn949Ser Uncertain significance Single submitter
- ATP13A4 p.Asn978His Uncertain significance Single submitter
- ATP13A4 p.Asp298Glu Uncertain significance Single submitter
- ATP13A4 p.Asp546Glu Uncertain significance Single submitter
- ATP13A4 p.Asp848Gly Uncertain significance Single submitter
- ATP13A4 p.Cys1007Tyr Uncertain significance Single submitter
- ATP13A4 p.Cys1178Arg Uncertain significance Single submitter
- ATP13A4 p.Cys349Tyr Uncertain significance Single submitter
- ATP13A4 p.Cys62Phe Uncertain significance Single submitter
- ATP13A4 p.Gln932Arg Uncertain significance Single submitter
- ATP13A4 p.Glu1126Lys Uncertain significance Single submitter
- ATP13A4 p.Glu316Ala Uncertain significance Single submitter
- ATP13A4 p.Glu646Lys Uncertain significance Single submitter
- ATP13A4 p.Gly151Ser Uncertain significance Single submitter
- ATP13A4 p.Gly24Asp Uncertain significance Single submitter
- ATP13A4 p.Gly29Val Uncertain significance Single submitter
- ATP13A4 p.Gly311Asp Uncertain significance Single submitter
- ATP13A4 p.Gly315Glu Uncertain significance Single submitter
- ATP13A4 p.Gly362Glu Uncertain significance Single submitter
- ATP13A4 p.Gly38Arg Uncertain significance Single submitter
- ATP13A4 p.Gly524Ser Uncertain significance Single submitter
- ATP13A4 p.Gly844Asp Uncertain significance Single submitter
- ATP13A4 p.Gly862Ala Uncertain significance Single submitter
- ATP13A4 p.Gly964Arg Uncertain significance Single submitter
- ATP13A4 p.His3Pro Uncertain significance Single submitter
- ATP13A4 p.His669Arg Uncertain significance Single submitter
- ATP13A4 p.Ile1014Val Uncertain significance Single submitter
- ATP13A4 p.Ile162Val Uncertain significance Single submitter
- ATP13A4 p.Ile199Met Uncertain significance Single submitter
- ATP13A4 p.Ile208Val Uncertain significance Single submitter
- ATP13A4 p.Ile287Thr Uncertain significance Single submitter
- ATP13A4 p.Ile649Thr Uncertain significance Single submitter
- ATP13A4 p.Ile725Val Uncertain significance Single submitter
- ATP13A4 p.Ile756Val Uncertain significance Single submitter
- ATP13A4 p.Ile767Val Uncertain significance Single submitter
- ATP13A4 p.Ile778Phe Uncertain significance Single submitter
- ATP13A4 p.Ile816Val Uncertain significance Single submitter
- ATP13A4 p.Leu1123Phe Uncertain significance Single submitter
- ATP13A4 p.Leu347Pro Uncertain significance Single submitter
- ATP13A4 p.Leu405Arg Uncertain significance Single submitter
- ATP13A4 p.Leu703Val Uncertain significance Single submitter
- ATP13A4 p.Leu865Ser Uncertain significance Single submitter
- ATP13A4 p.Lys327Gln Uncertain significance Single submitter
- ATP13A4 p.Met1019Val Uncertain significance Single submitter
- ATP13A4 p.Met1175Lys Uncertain significance Single submitter
- ATP13A4 p.Met295Lys Uncertain significance Single submitter
- ATP13A4 p.Met530Ile Uncertain significance Single submitter
- ATP13A4 p.Met530Thr Uncertain significance Single submitter
- ATP13A4 p.Met577Ile Uncertain significance Single submitter
- ATP13A4 p.Met577Val Uncertain significance Single submitter
- ATP13A4 p.Met608Leu Uncertain significance Single submitter
- ATP13A4 p.Met623Thr Uncertain significance Single submitter
- ATP13A4 p.Met845Lys Uncertain significance Single submitter
- ATP13A4 p.Met858Ile Uncertain significance Single submitter
- ATP13A4 p.Met912Val Uncertain significance Single submitter
- ATP13A4 p.Met985Ile Uncertain significance Single submitter
- ATP13A4 p.Met985Val Uncertain significance Single submitter
- ATP13A4 p.Phe1085Leu Uncertain significance Single submitter
- ATP13A4 p.Phe4Leu Uncertain significance Single submitter
- ATP13A4 p.Phe901Leu Uncertain significance Single submitter
- ATP13A4 p.Pro426Thr Uncertain significance Single submitter
- ATP13A4 p.Pro627Thr Uncertain significance Single submitter
- ATP13A4 p.Pro640Leu Uncertain significance Single submitter
- ATP13A4 p.Ser1000Thr Uncertain significance Single submitter
- ATP13A4 p.Thr104Ala Uncertain significance Single submitter
- ATP13A4 p.Thr678Met Uncertain significance Single submitter
- ATP13A4 p.Thr699Arg Uncertain significance Single submitter
- ATP13A4 p.Thr78Lys Uncertain significance Single submitter
- ATP13A4 p.Trp195Cys Uncertain significance Single submitter
- ATP13A4 p.Trp499Arg Uncertain significance Single submitter
- ATP13A4 p.Tyr222Cys Uncertain significance Single submitter
- ATP13A4 p.Val1082Leu Uncertain significance Single submitter
- ATP13A4 p.Val1105Asp Uncertain significance Single submitter
- ATP13A4 p.Val58Ile Uncertain significance Single submitter
- ATP13A4 p.Val639Gly Uncertain significance Single submitter
- ATP13A4 p.Val679Ile Uncertain significance Single submitter
- ATP13A4 p.Val782Ala Uncertain significance Single submitter
- ATP13A4 p.Val782Ile Uncertain significance Single submitter
Predictors split 76
The independent predictors disagree with each other — read with care.
- ATP13A4 p.Ile181Met Benign Multiple submitters
- ATP13A4 p.Ala457Thr Uncertain significance Single submitter
- ATP13A4 p.Ala457Val Uncertain significance Single submitter
- ATP13A4 p.Ala529Val Uncertain significance Single submitter
- ATP13A4 p.Ala794Ser Uncertain significance Single submitter
- ATP13A4 p.Ala953Thr Uncertain significance Single submitter
- ATP13A4 p.Arg1097Cys Uncertain significance Single submitter
- ATP13A4 p.Arg1152Trp Uncertain significance Single submitter
- ATP13A4 p.Arg1156Gly Uncertain significance Single submitter
- ATP13A4 p.Arg179Met Uncertain significance Single submitter
- ATP13A4 p.Arg31Trp Uncertain significance Single submitter
- ATP13A4 p.Arg400Met Uncertain significance Single submitter
- ATP13A4 p.Arg400Ser Uncertain significance Single submitter
- ATP13A4 p.Asn817Ser Uncertain significance Single submitter
- ATP13A4 p.Asn949His Uncertain significance Single submitter
- ATP13A4 p.Asp79Asn Uncertain significance Single submitter
- ATP13A4 p.Gln146His Uncertain significance Single submitter
- ATP13A4 p.Gln355Arg Uncertain significance Single submitter
- ATP13A4 p.Gln613Arg Uncertain significance Single submitter
- ATP13A4 p.Gln648Pro Uncertain significance Single submitter
- ATP13A4 p.Gln653Arg Uncertain significance Single submitter
- ATP13A4 p.Glu637Lys Uncertain significance Single submitter
- ATP13A4 p.Glu698Lys Uncertain significance Single submitter
- ATP13A4 p.Glu705Asp Uncertain significance Single submitter
- ATP13A4 p.Glu835Lys Uncertain significance Single submitter
- ATP13A4 p.Gly1144Ser Uncertain significance Single submitter
- ATP13A4 p.Gly151Arg Uncertain significance Single submitter
- ATP13A4 p.Gly465Arg Uncertain significance Single submitter
- ATP13A4 p.Gly592Glu Uncertain significance Single submitter
- ATP13A4 p.Ile1120Met Uncertain significance Single submitter
- ATP13A4 p.Ile136Thr Uncertain significance Single submitter
- ATP13A4 p.Ile194Thr Uncertain significance Single submitter
- ATP13A4 p.Ile237Leu Uncertain significance Single submitter
- ATP13A4 p.Ile414Thr Uncertain significance Single submitter
- ATP13A4 p.Ile466Val Uncertain significance Single submitter
- ATP13A4 p.Ile474Val Uncertain significance Single submitter
- ATP13A4 p.Leu1117Phe Uncertain significance Single submitter
- ATP13A4 p.Leu157Ile Uncertain significance Single submitter
- ATP13A4 p.Leu909Val Uncertain significance Single submitter
- ATP13A4 p.Lys88Gln Uncertain significance Single submitter
- ATP13A4 p.Phe1036Leu Uncertain significance Single submitter
- ATP13A4 p.Phe960Leu Uncertain significance Single submitter
- ATP13A4 p.Pro1162Leu Uncertain significance Single submitter
- ATP13A4 p.Pro184Ala Uncertain significance Single submitter
- ATP13A4 p.Pro389Ala Uncertain significance Single submitter
- ATP13A4 p.Pro471Leu Uncertain significance Single submitter
- ATP13A4 p.Pro547Thr Uncertain significance Single submitter
- ATP13A4 p.Pro636His Uncertain significance Single submitter
- ATP13A4 p.Pro875Ala Uncertain significance Single submitter
- ATP13A4 p.Ser1013Asn Uncertain significance Single submitter
- ATP13A4 p.Ser1163Arg Uncertain significance Single submitter
- ATP13A4 p.Ser233Ala Uncertain significance Single submitter
- ATP13A4 p.Ser503Cys Uncertain significance Single submitter
- ATP13A4 p.Ser808Ile Uncertain significance Single submitter
- ATP13A4 p.Ser900Ala Uncertain significance Single submitter
- ATP13A4 p.Ser982Asn Uncertain significance Single submitter
- ATP13A4 p.Thr104Ile Uncertain significance Single submitter
- ATP13A4 p.Thr1068Ile Uncertain significance Single submitter
- ATP13A4 p.Thr192Pro Uncertain significance Single submitter
- ATP13A4 p.Thr262Ala Uncertain significance Single submitter
- ATP13A4 p.Thr262Met Uncertain significance Single submitter
- ATP13A4 p.Thr323Ile Uncertain significance Single submitter
- ATP13A4 p.Thr451Ser Uncertain significance Single submitter
- ATP13A4 p.Thr651Met Uncertain significance Single submitter
- ATP13A4 p.Thr672Ile Uncertain significance Single submitter
- ATP13A4 p.Val1075Leu Uncertain significance Single submitter
- ATP13A4 p.Val1124Ala Uncertain significance Single submitter
- ATP13A4 p.Val133Gly Uncertain significance Single submitter
- ATP13A4 p.Val191Phe Uncertain significance Single submitter
- ATP13A4 p.Val263Phe Uncertain significance Single submitter
- ATP13A4 p.Val265Leu Uncertain significance Single submitter
- ATP13A4 p.Val390Met Likely benign Single submitter
- ATP13A4 p.Val886Ile Uncertain significance Single submitter
- ATP13A4 p.Val89Ala Uncertain significance Single submitter
-
ATP13A4 p.Arg344Trp
Likely benign
No assertion criteria
ATP13A4-related disorder
-
ATP13A4 p.Glu704Ala
Likely benign
No assertion criteria
ATP13A4-related disorder
All ATP13A4 variants
Conflicting classifications of pathogenicity 1
- p.Tyr954His Single submitter ⚠
Benign 11
- p.Glu646Asp Multiple submitters central core myopathy
- p.Gly827= Multiple submitters
- p.Ile181Met Multiple submitters ⚠
- p.Leu1135= Multiple submitters
- p.Leu983= Multiple submitters
- p.Ser1191= Multiple submitters
- p.Thr363= Multiple submitters
- p.Thr641Ala Multiple submitters
- p.Pro1166Leu Single submitter
- c.1915+7A>G No assertion criteria ATP13A4-related disorder
- p.Ile707Val No assertion criteria ATP13A4-related disorder
Likely benign 22
- p.His61Arg Multiple submitters
- p.Val1041Ile Multiple submitters
- c.739-9C>G Single submitter
- p.Ala1109Val Single submitter
- p.Ala671Thr Single submitter
- p.Ala988Val Single submitter
- p.Asp565= Single submitter
- p.Asp773= Single submitter
- p.Cys582Ser Single submitter
- p.Val1105Ile Single submitter
- p.Val300Ile Single submitter
- p.Val390Met Single submitter ⚠
- p.Ala441= No assertion criteria ATP13A4-related disorder
- p.Arg344Trp No assertion criteria ATP13A4-related disorder ⚠
- p.Arg965= No assertion criteria ATP13A4-related disorder
- p.Glu704Ala No assertion criteria ATP13A4-related disorder ⚠
- p.His9= No assertion criteria ATP13A4-related disorder
- p.Ile229= No assertion criteria ATP13A4-related disorder
- p.Ile658= No assertion criteria ATP13A4-related disorder
- p.Leu280= No assertion criteria ATP13A4-related disorder
- p.Leu695= No assertion criteria ATP13A4-related disorder
- p.Thr749= No assertion criteria ATP13A4-related disorder
Uncertain significance 174
- p.Ala100Ser Single submitter ⚠
- p.Ala1053Pro Single submitter ⚠
- p.Ala10Ser Single submitter ⚠
- p.Ala10Thr Single submitter ⚠
- p.Ala340Val Single submitter ⚠
- p.Ala441Val Single submitter ⚠
- p.Ala457Thr Single submitter ⚠
- p.Ala457Val Single submitter ⚠
- p.Ala529Val Single submitter ⚠
- p.Ala576Thr Single submitter ⚠
- p.Ala724Thr Single submitter ⚠
- p.Ala794Ser Single submitter ⚠
- p.Ala855Thr Single submitter ⚠
- p.Ala953Thr Single submitter ⚠
- p.Ala984Val Single submitter ⚠
- p.Ala988Ser Single submitter ⚠
- p.Arg1097Cys Single submitter ⚠
- p.Arg1097His Single submitter ⚠
- p.Arg1152Gln Single submitter ⚠
- p.Arg1152Trp Single submitter ⚠
- p.Arg1156Gly Single submitter ⚠
- p.Arg1180Lys Single submitter ⚠
- p.Arg179Met Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg31Trp Single submitter ⚠
- p.Arg365Lys Single submitter ⚠
- p.Arg400Met Single submitter ⚠
- p.Arg400Ser Single submitter ⚠
- p.Arg894His Single submitter ⚠
- p.Arg965Gln Single submitter ⚠
- p.Asn1030Ser Single submitter ⚠
- p.Asn1048Ser Single submitter ⚠
- p.Asn141Ser Single submitter ⚠
- p.Asn746Asp Single submitter ⚠
- p.Asn817Ser Single submitter ⚠
- p.Asn851Lys Single submitter ⚠
- p.Asn949His Single submitter ⚠
- p.Asn949Ser Single submitter ⚠
- p.Asn978His Single submitter ⚠
- p.Asp298Glu Single submitter ⚠
- p.Asp546Glu Single submitter ⚠
- p.Asp79Asn Single submitter ⚠
- p.Asp848Gly Single submitter ⚠
- p.Cys1007Tyr Single submitter ⚠
- p.Cys1178Arg Single submitter ⚠
- p.Cys349Tyr Single submitter ⚠
- p.Cys62Phe Single submitter ⚠
- p.Gln146His Single submitter ⚠
- p.Gln164Ter Single submitter
- p.Gln355Arg Single submitter ⚠
- p.Gln613Arg Single submitter ⚠
- p.Gln648Pro Single submitter ⚠
- p.Gln653Arg Single submitter ⚠
- p.Gln932Arg Single submitter ⚠
- p.Glu1126Lys Single submitter ⚠
- p.Glu316Ala Single submitter ⚠
- p.Glu637Lys Single submitter ⚠
- p.Glu646Lys Single submitter ⚠
- p.Glu698Lys Single submitter ⚠
- p.Glu705Asp Single submitter ⚠
- p.Glu835Lys Single submitter ⚠
- p.Gly1144Ser Single submitter ⚠
- p.Gly151Arg Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly24Asp Single submitter ⚠
- p.Gly29Val Single submitter ⚠
- p.Gly311Asp Single submitter ⚠
- p.Gly315Glu Single submitter ⚠
- p.Gly362Glu Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.Gly465Arg Single submitter ⚠
- p.Gly524Ser Single submitter ⚠
- p.Gly592Glu Single submitter ⚠
- p.Gly844Asp Single submitter ⚠
- p.Gly862Ala Single submitter ⚠
- p.Gly964Arg Single submitter ⚠
- p.His3Pro Single submitter ⚠
- p.His669Arg Single submitter ⚠
- p.Ile1014Val Single submitter ⚠
- p.Ile1120Met Single submitter ⚠
- p.Ile136Thr Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Ile194Thr Single submitter ⚠
- p.Ile199Met Single submitter ⚠
- p.Ile208Val Single submitter ⚠
- p.Ile237Leu Single submitter ⚠
- p.Ile287Thr Single submitter ⚠
- p.Ile414Thr Single submitter ⚠
- p.Ile466Val Single submitter ⚠
- p.Ile474Val Single submitter ⚠
- p.Ile649Thr Single submitter ⚠
- p.Ile725Val Single submitter ⚠
- p.Ile756Val Single submitter ⚠
- p.Ile767Val Single submitter ⚠
- p.Ile778Phe Single submitter ⚠
- p.Ile816Val Single submitter ⚠
- p.Leu1117Phe Single submitter ⚠
- p.Leu1123Phe Single submitter ⚠
- p.Leu157Ile Single submitter ⚠
- p.Leu347Pro Single submitter ⚠
- p.Leu405Arg Single submitter ⚠
- p.Leu703Val Single submitter ⚠
- p.Leu865Ser Single submitter ⚠
- p.Leu909Val Single submitter ⚠
- p.Lys327Gln Single submitter ⚠
- p.Lys88Gln Single submitter ⚠
- p.Met1019Val Single submitter ⚠
- p.Met1175Lys Single submitter ⚠
- p.Met295Lys Single submitter ⚠
- p.Met530Ile Single submitter ⚠
- p.Met530Thr Single submitter ⚠
- p.Met577Ile Single submitter ⚠
- p.Met577Val Single submitter ⚠
- p.Met608Leu Single submitter ⚠
- p.Met623Thr Single submitter ⚠
- p.Met845Lys Single submitter ⚠
- p.Met858Ile Single submitter ⚠
- p.Met912Val Single submitter ⚠
- p.Met985Ile Single submitter ⚠
- p.Met985Val Single submitter ⚠
- p.Phe1036Leu Single submitter ⚠
- p.Phe1085Leu Single submitter ⚠
- p.Phe4Leu Single submitter ⚠
- p.Phe901Leu Single submitter ⚠
- p.Phe960Leu Single submitter ⚠
- p.Pro1162Leu Single submitter ⚠
- p.Pro184Ala Single submitter ⚠
- p.Pro389Ala Single submitter ⚠
- p.Pro426Thr Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro547Thr Single submitter ⚠
- p.Pro627Thr Single submitter ⚠
- p.Pro636His Single submitter ⚠
- p.Pro640Leu Single submitter ⚠
- p.Pro875Ala Single submitter ⚠
- p.Ser1000Thr Single submitter ⚠
- p.Ser1013Asn Single submitter ⚠
- p.Ser1163Arg Single submitter ⚠
- p.Ser233Ala Single submitter ⚠
- p.Ser503Cys Single submitter ⚠
- p.Ser808Ile Single submitter ⚠
- p.Ser900Ala Single submitter ⚠
- p.Ser982Asn Single submitter ⚠
- p.Thr104Ala Single submitter ⚠
- p.Thr104Ile Single submitter ⚠
- p.Thr1068Ile Single submitter ⚠
- p.Thr192Pro Single submitter ⚠
- p.Thr262Ala Single submitter ⚠
- p.Thr262Met Single submitter ⚠
- p.Thr323Ile Single submitter ⚠
- p.Thr451Ser Single submitter ⚠
- p.Thr651Met Single submitter ⚠
- p.Thr672Ile Single submitter ⚠
- p.Thr678Met Single submitter ⚠
- p.Thr699Arg Single submitter ⚠
- p.Thr78Lys Single submitter ⚠
- p.Trp195Cys Single submitter ⚠
- p.Trp499Arg Single submitter ⚠
- p.Tyr222Cys Single submitter ⚠
- p.Val1075Leu Single submitter ⚠
- p.Val1082Leu Single submitter ⚠
- p.Val1105Asp Single submitter ⚠
- p.Val1124Ala Single submitter ⚠
- p.Val133Gly Single submitter ⚠
- p.Val191Phe Single submitter ⚠
- p.Val263Phe Single submitter ⚠
- p.Val265Leu Single submitter ⚠
- p.Val58Ile Single submitter ⚠
- p.Val639Gly Single submitter ⚠
- p.Val679Ile Single submitter ⚠
- p.Val782Ala Single submitter ⚠
- p.Val782Ile Single submitter ⚠
- p.Val886Ile Single submitter ⚠
- p.Val89Ala Single submitter ⚠