ATP10B — 242 ClinVar variants

All ClinVar germline ATP10B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →

4 Benign · 19 Likely benign · 219 Uncertain significance

Full ATP10B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 207

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 173

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 173

Predictors split 34

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

All ATP10B variants

Benign 4

p.Asn865Lys Single submitter
p.Gly648Arg Single submitter
p.Gly671Arg Single submitter
p.Ile1222Thr Single submitter

Likely benign 19

p.Ala1216Thr Single submitter
p.Arg1023Gln Single submitter
p.Arg1029His Single submitter
p.Arg1363Gln Single submitter
p.Arg527Cys Single submitter
p.Arg850Gln Single submitter
p.Arg905= Single submitter
p.Arg964His Single submitter
p.Asn197Ser Single submitter
p.Asn354Lys Single submitter
p.Ile176Val Single submitter
p.Leu392= Single submitter
p.Lys627Arg Single submitter
p.Met811Val Single submitter
p.Ser206Asn Single submitter
p.Ser984Pro Single submitter
p.Thr161Asn Single submitter
p.Thr161Ile Single submitter
p.Val655Met Single submitter

Uncertain significance 219

c.3565-3C>T Single submitter
p.Ala1216Ser Single submitter ⚠
p.Ala1216Val Single submitter ⚠
p.Ala1356Thr Single submitter ⚠
p.Ala490Ser Single submitter ⚠
p.Ala535Thr Single submitter ⚠
p.Ala572Gly Single submitter ⚠
p.Ala666Thr Single submitter ⚠
p.Ala725Ser Single submitter ⚠
p.Ala730Ser Single submitter
p.Ala874Ser Single submitter ⚠
p.Ala922Val Single submitter ⚠
p.Arg1029Cys Single submitter ⚠
p.Arg1047Cys Single submitter ⚠
p.Arg1090His Single submitter ⚠
p.Arg142Ser Single submitter ⚠
p.Arg1449Lys Single submitter ⚠
p.Arg1453Cys Single submitter ⚠
p.Arg311Trp Single submitter ⚠
p.Arg312Cys Single submitter ⚠
p.Arg416Gln Single submitter ⚠
p.Arg447His Single submitter ⚠
p.Arg463Gln Single submitter ⚠
p.Arg463Gly Single submitter ⚠
p.Arg46Gln Single submitter
p.Arg488Thr Single submitter ⚠
p.Arg512Gln Single submitter ⚠
p.Arg512Pro Single submitter ⚠
p.Arg512Trp Single submitter ⚠
p.Arg520Trp Single submitter ⚠
p.Arg527His Single submitter ⚠
p.Arg555Leu Single submitter ⚠
p.Arg65Gly Single submitter ⚠
p.Arg741Trp Single submitter ⚠
p.Arg835Leu Single submitter ⚠
p.Arg84Trp Single submitter ⚠
p.Arg856Gln Single submitter ⚠
p.Arg866Gln Single submitter ⚠
p.Arg905Gln Single submitter ⚠
p.Arg905Pro Single submitter ⚠
p.Arg905Trp Single submitter ⚠
p.Arg971His Single submitter ⚠
p.Asn1386Lys Single submitter ⚠
p.Asn298Lys Single submitter ⚠
p.Asn954Lys Single submitter ⚠
p.Asp1044Asn Single submitter ⚠
p.Asp1085Asn Single submitter ⚠
p.Asp1335Tyr Single submitter ⚠
p.Asp1410Val Single submitter ⚠
p.Asp349His Single submitter ⚠
p.Asp352Glu Single submitter ⚠
p.Asp410Asn Single submitter ⚠
p.Asp423Glu Single submitter ⚠
p.Asp423His Single submitter ⚠
p.Asp433Tyr Single submitter ⚠
p.Asp677Gly Single submitter ⚠
p.Asp689Asn Single submitter ⚠
p.Asp6His Single submitter ⚠
p.Asp723Glu Single submitter ⚠
p.Cys1403Trp Single submitter ⚠
p.Cys149Tyr Single submitter ⚠
p.Cys669Arg Single submitter ⚠
p.Cys805Ter Single submitter ATP10B-associated developmental disorder
p.Gln1079Glu Single submitter ⚠
p.Gln1292Arg Single submitter ⚠
p.Gln1320His Single submitter ⚠
p.Gln13His Single submitter ⚠
p.Gln1420His Single submitter ⚠
p.Gln1440Glu Single submitter ⚠
p.Gln458Arg Single submitter ⚠
p.Gln603Lys Single submitter ⚠
p.Gln622Leu Single submitter ⚠
p.Gln626Glu Single submitter ⚠
p.Gln962Lys Single submitter ⚠
p.Glu1172Ala Single submitter ⚠
p.Glu1345Asp Single submitter ⚠
p.Glu1360Ala Single submitter ⚠
p.Glu1400Lys Single submitter ⚠
p.Glu226Lys Single submitter ⚠
p.Glu280Lys Single submitter ⚠
p.Glu408Gln Single submitter ⚠
p.Glu454Lys Single submitter ⚠
p.Glu600Lys Single submitter ⚠
p.Glu801Gln Single submitter ⚠
p.Glu944Lys Single submitter ⚠
p.Glu959Lys Single submitter ⚠
p.Gly1260Ser Single submitter ⚠
p.Gly1324Glu Single submitter ⚠
p.Gly1415Val Single submitter ⚠
p.Gly173Glu Single submitter ⚠
p.Gly364Val Single submitter ⚠
p.Gly425Ser Single submitter ⚠
p.Gly525Glu Single submitter ⚠
p.Gly753Asp Single submitter ⚠
p.Gly783Ser Single submitter ⚠
p.Gly833Ala Single submitter ⚠
p.His1366Tyr Single submitter ⚠
p.His1399Pro Single submitter ⚠
p.His22Arg Single submitter ⚠
p.His732Asp Single submitter ⚠
p.His732Tyr Single submitter ⚠
p.His927Asp Single submitter
p.Ile1006Val Single submitter ⚠
p.Ile1068Thr Single submitter ⚠
p.Ile1169Phe Single submitter ⚠
p.Ile1231Val Single submitter ⚠
p.Ile131Met Single submitter ⚠
p.Ile285Leu Single submitter ⚠
p.Ile287Asn Single submitter ⚠
p.Ile309Thr Single submitter ⚠
p.Ile321Val Single submitter ⚠
p.Ile387Thr Single submitter ⚠
p.Ile413Phe Single submitter ⚠
p.Ile427Ser Single submitter ⚠
p.Ile430Leu Single submitter ⚠
p.Ile450Val Single submitter ⚠
p.Ile54Val Single submitter ⚠
p.Ile580Thr Single submitter ⚠
p.Ile796Val Single submitter ⚠
p.Ile809Phe Single submitter ⚠
p.Ile839Phe Single submitter ⚠
p.Ile839Val Single submitter ⚠
p.Ile901Thr Single submitter ⚠
p.Leu1165Pro Single submitter ⚠
p.Leu1207Phe Single submitter ⚠
p.Leu1271Pro Single submitter ⚠
p.Leu1300His Single submitter ⚠
p.Leu1327Val Single submitter ⚠
p.Leu247Phe Single submitter ⚠
p.Leu362Phe Single submitter ⚠
p.Leu362Pro Single submitter ⚠
p.Leu375His Single submitter ⚠
p.Leu624Phe Single submitter ⚠
p.Leu628Val Single submitter ⚠
p.Leu760Phe Single submitter
p.Leu799Gln Single submitter ⚠
p.Lys1045Asn Single submitter ⚠
p.Lys1325Asn Single submitter ⚠
p.Lys1448Asn Single submitter ⚠
p.Lys824Glu Single submitter ⚠
p.Lys842Met Single submitter ⚠
p.Lys968Asn Single submitter ⚠
p.Met1078Thr Single submitter ⚠
p.Met110Val Single submitter ⚠
p.Met119Thr Single submitter ⚠
p.Met1264Ile Single submitter ⚠
p.Met1264Thr Single submitter ⚠
p.Met135Ile Single submitter ⚠
p.Met1408Leu Single submitter ⚠
p.Met1434Thr Single submitter ⚠
p.Met443Lys Single submitter ⚠
p.Met871Leu Single submitter ⚠
p.Phe138Leu Single submitter ⚠
p.Phe222Leu Single submitter ⚠
p.Phe625Leu Single submitter ⚠
p.Phe963Ser Single submitter ⚠
p.Pro1159Ser Single submitter
p.Pro1285Leu Single submitter ⚠
p.Pro1368Thr Single submitter ⚠
p.Pro1387Arg Single submitter ⚠
p.Pro196Ser Single submitter ⚠
p.Pro29Gln Single submitter ⚠
p.Pro29Leu Single submitter ⚠
p.Pro504Ser Single submitter ⚠
p.Pro514Ala Single submitter ⚠
p.Pro780Leu Single submitter ⚠
p.Ser1193Pro Single submitter ⚠
p.Ser1281Arg Single submitter
p.Ser1326Pro Single submitter ⚠
p.Ser1380Gly Single submitter ⚠
p.Ser1384Ile Single submitter ⚠
p.Ser1417Phe Single submitter ⚠
p.Ser1418Ala Single submitter ⚠
p.Ser1457Thr Single submitter ⚠
p.Ser356Thr Single submitter ⚠
p.Ser530Pro Single submitter ⚠
p.Ser53Gly Single submitter ⚠
p.Ser634Asn Single submitter ⚠
p.Ser650Gly Single submitter ⚠
p.Ser670Gly Single submitter ⚠
p.Ser683Arg Single submitter
p.Ser683Gly Single submitter ⚠
p.Ser759Asn Single submitter ⚠
p.Ser774Phe Single submitter ⚠
p.Ser928Ala Single submitter ⚠
p.Thr118Ile Single submitter ⚠
p.Thr1249Ala Single submitter ⚠
p.Thr1441Ala Single submitter ⚠
p.Thr1441Ile Single submitter ⚠
p.Thr260Asn Single submitter ⚠
p.Thr279Ile Single submitter ⚠
p.Thr293Met Single submitter ⚠
p.Thr435Met Single submitter ⚠
p.Thr599Asn Single submitter ⚠
p.Thr616Lys Single submitter ⚠
p.Thr657Ile Single submitter ⚠
p.Thr71Asn Single submitter ⚠
p.Thr77Ala Single submitter ⚠
p.Thr940Asn Single submitter ⚠
p.Trp12Arg Single submitter ⚠
p.Trp489Cys Single submitter ⚠
p.Trp93Cys Single submitter ⚠
p.Tyr155His Single submitter ⚠
p.Tyr253His Single submitter
p.Tyr304Asn Single submitter ⚠
p.Tyr304Cys Single submitter ⚠
p.Val102Met Single submitter ⚠
p.Val1048Phe Single submitter ⚠
p.Val1113Leu Single submitter
p.Val1121Met Single submitter ⚠
p.Val1301Ile Single submitter ⚠
p.Val219Leu Single submitter
p.Val219Met Single submitter ⚠
p.Val239Leu Single submitter ⚠
p.Val377Met Single submitter ⚠
p.Val48Met Single submitter ⚠
p.Val62Ile Single submitter ⚠
p.Val739Met Single submitter ⚠
p.Val769Phe Single submitter ⚠