ATP8B3 — 299 ClinVar variants

All ClinVar germline ATP8B3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 244 flagged for review →

1 Likely pathogenic · 7 Benign · 1 Benign/Likely benign · 32 Likely benign · 258 Uncertain significance

Full ATP8B3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 244

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 209

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 209

Predictors split 35

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

All ATP8B3 variants

Likely pathogenic 1

p.Arg337Ter Single submitter

Benign 7

c.311-8C>T Multiple submitters
p.Asn723= Multiple submitters
p.Tyr1065= Multiple submitters
c.2302+9C>T Single submitter
p.Arg649Ter Single submitter
p.Leu1285= Single submitter
p.Thr28= Single submitter

Benign/Likely benign 1

p.Glu960= Multiple submitters

Likely benign 32

c.1064-1G>A Single submitter
c.1585-2A>G Single submitter
c.2190+18G>A Single submitter
c.2191-3C>T Single submitter
p.Ala1145Val Single submitter
p.Ala654Thr Single submitter
p.Arg244His Single submitter
p.Arg562Gln Single submitter
p.Asp472= Single submitter
p.Cys236= Single submitter
p.Gln963fs Single submitter
p.Glu1231del Single submitter
p.Glu668Gln Single submitter ⚠
p.Glu690Gln Single submitter
p.Glu738= Single submitter
p.Gly1019Asp Single submitter
p.Gly399Ser Single submitter
p.Gly4= Single submitter
p.Gly557Arg Single submitter
p.Ile1083= Single submitter
p.Ile1083Val Single submitter
p.Met1184Leu Single submitter
p.Met621Val Single submitter
p.Phe667= Single submitter
p.Phe775fs Single submitter
p.Ser1294Leu Single submitter
p.Ser793= Single submitter
p.Ser811Phe Single submitter
p.Thr1146Ser Single submitter
p.Val516Ile Single submitter
p.Val991Met Single submitter
p.Glu94Lys No assertion criteria

Uncertain significance 258

p.Arg724Gln Multiple submitters ⚠
p.Ala1055Thr Single submitter ⚠
p.Ala1084Pro Single submitter ⚠
p.Ala1105Val Single submitter ⚠
p.Ala1108Thr Single submitter ⚠
p.Ala1141Thr Single submitter ⚠
p.Ala1155Thr Single submitter ⚠
p.Ala115Val Single submitter ⚠
p.Ala1179Thr Single submitter ⚠
p.Ala1247Pro Single submitter ⚠
p.Ala1281Val Single submitter ⚠
p.Ala14Pro Single submitter ⚠
p.Ala21Thr Single submitter ⚠
p.Ala283Val Single submitter ⚠
p.Ala292Val Single submitter ⚠
p.Ala298Glu Single submitter ⚠
p.Ala308Val Single submitter ⚠
p.Ala354Val Single submitter
p.Ala424Thr Single submitter ⚠
p.Ala424Val Single submitter ⚠
p.Ala523Ser Single submitter ⚠
p.Ala52Pro Single submitter ⚠
p.Ala547Val Single submitter ⚠
p.Ala591Glu Single submitter ⚠
p.Ala591Val Single submitter ⚠
p.Ala662Thr Single submitter ⚠
p.Ala675Ser Single submitter ⚠
p.Ala736Asp Single submitter ⚠
p.Ala776Thr Single submitter ⚠
p.Ala839Pro Single submitter ⚠
p.Ala841Glu Single submitter ⚠
p.Ala863Ser Single submitter ⚠
p.Ala878Ser Single submitter ⚠
p.Ala879Pro Single submitter ⚠
p.Ala887Val Single submitter ⚠
p.Arg101Thr Single submitter ⚠
p.Arg10Lys Single submitter ⚠
p.Arg1102His Single submitter ⚠
p.Arg1168Lys Single submitter ⚠
p.Arg1208Gln Single submitter ⚠
p.Arg1243Gln Single submitter ⚠
p.Arg1249Cys Single submitter
p.Arg1257Cys Single submitter ⚠
p.Arg1271Pro Single submitter ⚠
p.Arg159Cys Single submitter ⚠
p.Arg196Cys Single submitter
p.Arg196His Single submitter ⚠
p.Arg244Cys Single submitter ⚠
p.Arg244Leu Single submitter ⚠
p.Arg312Gln Single submitter ⚠
p.Arg312Trp Single submitter ⚠
p.Arg342His Single submitter ⚠
p.Arg44Cys Single submitter ⚠
p.Arg44His Single submitter ⚠
p.Arg515Cys Single submitter ⚠
p.Arg526Gln Single submitter ⚠
p.Arg566Cys Single submitter ⚠
p.Arg566His Single submitter ⚠
p.Arg583His Single submitter ⚠
p.Arg604Trp Single submitter ⚠
p.Arg613Cys Single submitter ⚠
p.Arg627Gln Single submitter ⚠
p.Arg627Trp Single submitter ⚠
p.Arg641Cys Single submitter ⚠
p.Arg649Gly Single submitter ⚠
p.Arg669His Single submitter ⚠
p.Arg672Ser Single submitter ⚠
p.Arg673Ser Single submitter ⚠
p.Arg693Gln Single submitter ⚠
p.Arg693Trp Single submitter ⚠
p.Arg713His Single submitter ⚠
p.Arg724Trp Single submitter ⚠
p.Arg794Cys Single submitter ⚠
p.Arg809Gly Single submitter ⚠
p.Arg838Cys Single submitter ⚠
p.Arg871Gly Single submitter ⚠
p.Arg871Trp Single submitter ⚠
p.Arg889His Single submitter ⚠
p.Arg913His Single submitter ⚠
p.Arg93Gly Single submitter ⚠
p.Asn117Ile Single submitter ⚠
p.Asn152Lys Single submitter ⚠
p.Asn215Lys Single submitter ⚠
p.Asn247Asp Single submitter ⚠
p.Asn310Asp Single submitter
p.Asn310Lys Single submitter ⚠
p.Asn530Ile Single submitter ⚠
p.Asn530Lys Single submitter ⚠
p.Asn638Ser Single submitter ⚠
p.Asp1052His Single submitter ⚠
p.Asp1112Asn Single submitter ⚠
p.Asp30Glu Single submitter ⚠
p.Asp463Tyr Single submitter ⚠
p.Asp484Glu Single submitter ⚠
p.Asp520Glu Single submitter ⚠
p.Asp558Glu Single submitter ⚠
p.Asp901His Single submitter ⚠
p.Asp939Asn Single submitter ⚠
p.Asp95Glu Single submitter ⚠
p.Asp969Ala Single submitter ⚠
p.Asp98Asn Single submitter ⚠
p.Cys127Arg Single submitter ⚠
p.Cys265Tyr Single submitter ⚠
p.Cys306Tyr Single submitter ⚠
p.Cys571Trp Single submitter ⚠
p.Cys751Tyr Single submitter ⚠
p.Gln119Lys Single submitter ⚠
p.Gln7His Single submitter ⚠
p.Gln918Glu Single submitter ⚠
p.Gln92Ter Single submitter
p.Glu1063Asp Single submitter ⚠
p.Glu1072Lys Single submitter ⚠
p.Glu122Gln Single submitter ⚠
p.Glu1230Lys Single submitter ⚠
p.Glu290Asp Single submitter ⚠
p.Glu406Ala Single submitter ⚠
p.Glu626Gln Single submitter ⚠
p.Glu738Lys Single submitter ⚠
p.Glu788Gln Single submitter ⚠
p.Glu892Lys Single submitter ⚠
p.Gly1022Ser Single submitter ⚠
p.Gly1227Asp Single submitter ⚠
p.Gly302Val Single submitter ⚠
p.Gly338Asp Single submitter ⚠
p.Gly37Ser Single submitter ⚠
p.Gly487Val Single submitter ⚠
p.Gly540Arg Single submitter ⚠
p.Gly55Val Single submitter ⚠
p.Gly744Ser Single submitter ⚠
p.Gly764Arg Single submitter ⚠
p.Gly774Ser Single submitter ⚠
p.Gly958Val Single submitter ⚠
p.Gly961Asp Single submitter ⚠
p.His1242Gln Single submitter ⚠
p.His288Tyr Single submitter
p.His315Pro Single submitter
p.His485Tyr Single submitter ⚠
p.His545Arg Single submitter ⚠
p.His572Gln Single submitter ⚠
p.His67Asn Single submitter ⚠
p.Ile1083Met Single submitter ⚠
p.Ile1189Val Single submitter ⚠
p.Ile1269Val Single submitter ⚠
p.Ile1280Thr Single submitter ⚠
p.Ile177Thr Single submitter ⚠
p.Ile331Val Single submitter ⚠
p.Ile385Thr Single submitter
p.Ile50Asn Single submitter ⚠
p.Ile666Val Single submitter ⚠
p.Ile706Val Single submitter ⚠
p.Ile737Val Single submitter ⚠
p.Ile944Asn Single submitter ⚠
p.Ile944Phe Single submitter ⚠
p.Ile947Met Single submitter ⚠
p.Leu1048Ile Single submitter ⚠
p.Leu1048Phe Single submitter ⚠
p.Leu1091Val Single submitter ⚠
p.Leu1263Val Single submitter ⚠
p.Leu533Val Single submitter ⚠
p.Leu543Phe Single submitter ⚠
p.Leu728Pro Single submitter ⚠
p.Leu812Val Single submitter ⚠
p.Leu972Pro Single submitter ⚠
p.Leu997Pro Single submitter ⚠
p.Lys1003Glu Single submitter ⚠
p.Lys108Met Single submitter ⚠
p.Lys1137Asn Single submitter
p.Lys1215Gln Single submitter ⚠
p.Lys121Glu Single submitter ⚠
p.Lys366Thr Single submitter ⚠
p.Lys373Glu Single submitter ⚠
p.Lys750Thr Single submitter ⚠
p.Lys828Glu Single submitter ⚠
p.Lys948Asn Single submitter ⚠
p.Met1009Leu Single submitter ⚠
p.Met1096Leu Single submitter ⚠
p.Met1130Thr Single submitter ⚠
p.Met1130Val Single submitter ⚠
p.Met1157Ile Single submitter ⚠
p.Met253Thr Single submitter
p.Met285Ile Single submitter ⚠
p.Met297Thr Single submitter ⚠
p.Met313Thr Single submitter ⚠
p.Met443Thr Single submitter ⚠
p.Met466Thr Single submitter ⚠
p.Met635Arg Single submitter ⚠
p.Met87Thr Single submitter ⚠
p.Phe1030Leu Single submitter ⚠
p.Phe1079Val Single submitter
p.Phe1211Leu Single submitter ⚠
p.Phe1254Leu Single submitter ⚠
p.Phe316Val Single submitter ⚠
p.Phe402Val Single submitter ⚠
p.Phe775Leu Single submitter ⚠
p.Pro1024Ser Single submitter ⚠
p.Pro1175Leu Single submitter ⚠
p.Pro1187Ser Single submitter ⚠
p.Pro1237Thr Single submitter ⚠
p.Pro25Leu Single submitter ⚠
p.Pro531Ser Single submitter ⚠
p.Pro651Ala Single submitter ⚠
p.Pro880Arg Single submitter ⚠
p.Ser1109Thr Single submitter ⚠
p.Ser1127Pro Single submitter ⚠
p.Ser1188Phe Single submitter ⚠
p.Ser1245Cys Single submitter ⚠
p.Ser1250Phe Single submitter ⚠
p.Ser1251Gly Single submitter ⚠
p.Ser1282Cys Single submitter ⚠
p.Ser147Leu Single submitter ⚠
p.Ser263Asn Single submitter ⚠
p.Ser38Leu Single submitter ⚠
p.Ser420Asn Single submitter ⚠
p.Ser438Gly Single submitter ⚠
p.Ser579Gly Single submitter ⚠
p.Ser612Cys Single submitter ⚠
p.Ser856Tyr Single submitter ⚠
p.Ser86Cys Single submitter ⚠
p.Thr106Ile Single submitter
p.Thr1159Ile Single submitter ⚠
p.Thr1172Met Single submitter ⚠
p.Thr1201Ser Single submitter ⚠
p.Thr140Met Single submitter ⚠
p.Thr179Met Single submitter ⚠
p.Thr269Met Single submitter ⚠
p.Thr305Arg Single submitter ⚠
p.Thr305Met Single submitter ⚠
p.Thr346Asn Single submitter ⚠
p.Thr499Lys Single submitter ⚠
p.Thr506Ile Single submitter ⚠
p.Thr524Met Single submitter ⚠
p.Thr573Met Single submitter ⚠
p.Thr614Ile Single submitter ⚠
p.Thr617Ile Single submitter ⚠
p.Thr640Pro Single submitter ⚠
p.Thr664Ala Single submitter ⚠
p.Thr691Ser Single submitter ⚠
p.Trp1139Arg Single submitter ⚠
p.Trp760Cys Single submitter ⚠
p.Tyr1002Cys Single submitter
p.Tyr133His Single submitter ⚠
p.Tyr348Asn Single submitter
p.Tyr348Cys Single submitter ⚠
p.Tyr468Cys Single submitter ⚠
p.Tyr999Cys Single submitter ⚠
p.Val1053Met Single submitter ⚠
p.Val1066Ala Single submitter ⚠
p.Val1080Ile Single submitter ⚠
p.Val1092Ile Single submitter ⚠
p.Val1169Ala Single submitter ⚠
p.Val160Gly Single submitter ⚠
p.Val237Leu Single submitter ⚠
p.Val249Ile Single submitter ⚠
p.Val553Met Single submitter ⚠
p.Val609Met Single submitter
p.Val665Gly Single submitter ⚠
p.Val954Leu Single submitter ⚠
p.Val984Met Single submitter ⚠