ABCA10 — 208 ClinVar variants

All ClinVar germline ABCA10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 191 flagged for review →

2 Benign · 17 Likely benign · 189 Uncertain significance

Full ABCA10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 191

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 108

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 83

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

All ABCA10 variants

Benign 2

c.3695-6_3696dup Single submitter
p.Gln1506fs Single submitter

Likely benign 17

p.Ala241Thr Single submitter ⚠
p.Arg1485Gln Single submitter
p.Arg1485Trp Single submitter ⚠
p.Arg172Gln Single submitter
p.Arg923His Single submitter
p.Gln1094Glu Single submitter
p.Gly74Asp Single submitter
p.Ile937Val Single submitter
p.Leu1329= Single submitter
p.Leu839Phe Single submitter
p.Phe326Leu Single submitter
p.Thr1393Ala Single submitter
p.Thr320Ala Single submitter
p.Thr404Pro Single submitter ⚠
p.Thr666Met Single submitter
p.Val1225Ile Single submitter
p.Val1386Phe Single submitter

Uncertain significance 189

p.Ala1181Val Single submitter ⚠
p.Ala1187Val Single submitter ⚠
p.Ala1307Val Single submitter ⚠
p.Ala1335Pro Single submitter ⚠
p.Ala1461Thr Single submitter ⚠
p.Ala244Ser Single submitter ⚠
p.Ala424Val Single submitter ⚠
p.Ala749Val Single submitter ⚠
p.Ala760Thr Single submitter ⚠
p.Ala869Asp Single submitter ⚠
p.Ala884Gly Single submitter ⚠
p.Ala90Val Single submitter ⚠
p.Ala98Glu Single submitter ⚠
p.Arg1039Cys Single submitter ⚠
p.Arg1039Leu Single submitter ⚠
p.Arg1158Gly Single submitter ⚠
p.Arg1466Ser Single submitter ⚠
p.Arg47His Single submitter ⚠
p.Arg577Leu Single submitter ⚠
p.Arg627Gly Single submitter ⚠
p.Arg763Gly Single submitter ⚠
p.Arg769Cys Single submitter ⚠
p.Arg769His Single submitter ⚠
p.Asn1072Asp Single submitter ⚠
p.Asn1146His Single submitter ⚠
p.Asn369Ser Single submitter ⚠
p.Asn438Tyr Single submitter ⚠
p.Asn478Ser Single submitter ⚠
p.Asn489Asp Single submitter ⚠
p.Asn886Thr Single submitter ⚠
p.Asn902Ser Single submitter ⚠
p.Asn944Ser Single submitter ⚠
p.Asp1096Asn Single submitter ⚠
p.Asp1171Asn Single submitter ⚠
p.Asp1364Gly Single submitter ⚠
p.Asp1371Glu Single submitter ⚠
p.Asp1479Asn Single submitter ⚠
p.Asp25Gly Single submitter ⚠
p.Asp305Asn Single submitter ⚠
p.Asp463Asn Single submitter ⚠
p.Asp594Gly Single submitter ⚠
p.Asp677Val Single submitter ⚠
p.Asp708Tyr Single submitter ⚠
p.Asp838Tyr Single submitter ⚠
p.Asp984His Single submitter ⚠
p.Cys1019Gly Single submitter ⚠
p.Cys1420Arg Single submitter ⚠
p.Cys606Arg Single submitter ⚠
p.Cys803Phe Single submitter ⚠
p.Gln1067Leu Single submitter ⚠
p.Gln1094Arg Single submitter ⚠
p.Gln1288Arg Single submitter ⚠
p.Glu1168Lys Single submitter ⚠
p.Glu1373Lys Single submitter ⚠
p.Glu1438Lys Single submitter ⚠
p.Glu1491Asp Single submitter ⚠
p.Glu21Lys Single submitter ⚠
p.Glu399Lys Single submitter ⚠
p.Glu664Lys Single submitter ⚠
p.Glu709Asp Single submitter ⚠
p.Glu731Gly Single submitter ⚠
p.Glu791Lys Single submitter ⚠
p.Gly37Ala Single submitter ⚠
p.Gly412Asp Single submitter ⚠
p.Gly531Arg Single submitter ⚠
p.Gly557Val Single submitter ⚠
p.Gly703Arg Single submitter ⚠
p.Gly715Val Single submitter ⚠
p.Gly931Asp Single submitter ⚠
p.Gly951Ser Single submitter ⚠
p.His1202Tyr Single submitter ⚠
p.His207Gln Single submitter ⚠
p.His340Arg Single submitter ⚠
p.His340Tyr Single submitter ⚠
p.His564Pro Single submitter ⚠
p.His622Asp Single submitter ⚠
p.His626Arg Single submitter ⚠
p.His73Pro Single submitter ⚠
p.His802Arg Single submitter ⚠
p.His996Arg Single submitter ⚠
p.Ile1021Val Single submitter ⚠
p.Ile1028Thr Single submitter ⚠
p.Ile1057Met Single submitter ⚠
p.Ile1078Phe Single submitter ⚠
p.Ile148Leu Single submitter ⚠
p.Ile202Val Single submitter ⚠
p.Ile225Leu Single submitter ⚠
p.Ile783Thr Single submitter ⚠
p.Ile899Phe Single submitter ⚠
p.Ile926Val Single submitter ⚠
p.Ile985Met Single submitter ⚠
p.Ile995Val Single submitter ⚠
p.Leu1012Phe Single submitter ⚠
p.Leu1116Ile Single submitter ⚠
p.Leu1185Phe Single submitter ⚠
p.Leu1235Ser Single submitter ⚠
p.Leu1265Val Single submitter ⚠
p.Leu1348Val Single submitter ⚠
p.Leu1457Phe Single submitter ⚠
p.Leu1499Val Single submitter ⚠
p.Leu1509Ser Single submitter ⚠
p.Leu1537Phe Single submitter ⚠
p.Leu440Pro Single submitter ⚠
p.Leu580Phe Single submitter ⚠
p.Leu611Ser Single submitter ⚠
p.Leu625Phe Single submitter ⚠
p.Leu739Pro Single submitter ⚠
p.Leu739Val Single submitter ⚠
p.Leu896Ile Single submitter ⚠
p.Leu913Phe Single submitter ⚠
p.Lys1281Asn Single submitter ⚠
p.Lys1474Met Single submitter ⚠
p.Lys337Ile Single submitter ⚠
p.Lys535Gln Single submitter ⚠
p.Lys668Ile Single submitter ⚠
p.Lys820Glu Single submitter ⚠
p.Met132Thr Single submitter ⚠
p.Met1370Leu Single submitter ⚠
p.Met1412Leu Single submitter ⚠
p.Met1413Thr Single submitter ⚠
p.Met191Ile Single submitter ⚠
p.Met231Val Single submitter ⚠
p.Met239Thr Single submitter ⚠
p.Phe125Leu Single submitter ⚠
p.Phe1282Leu Single submitter ⚠
p.Phe1488Val Single submitter ⚠
p.Phe210Ser Single submitter ⚠
p.Phe251Ser Single submitter ⚠
p.Phe40Leu Single submitter ⚠
p.Phe414Leu Single submitter ⚠
p.Phe483Leu Single submitter ⚠
p.Pro1164Leu Single submitter ⚠
p.Pro124Ser Single submitter ⚠
p.Pro1294Ser Single submitter ⚠
p.Pro1366Leu Single submitter ⚠
p.Pro1444Ala Single submitter ⚠
p.Pro1459Leu Single submitter ⚠
p.Pro1476Ser Single submitter ⚠
p.Pro1543Ala Single submitter ⚠
p.Pro203Leu Single submitter ⚠
p.Pro238Ser Single submitter ⚠
p.Pro265Leu Single submitter ⚠
p.Pro380Leu Single submitter ⚠
p.Pro383Leu Single submitter ⚠
p.Pro645Ser Single submitter ⚠
p.Pro894Ser Single submitter ⚠
p.Ser1035Leu Single submitter ⚠
p.Ser127Cys Single submitter ⚠
p.Ser1359Leu Single submitter ⚠
p.Ser529Gly Single submitter ⚠
p.Ser63Phe Single submitter ⚠
p.Ser738Tyr Single submitter ⚠
p.Ser922Phe Single submitter ⚠
p.Thr1259Ser Single submitter ⚠
p.Thr1417Met Single submitter ⚠
p.Thr1452Ala Single submitter ⚠
p.Thr359Asn Single submitter ⚠
p.Thr404Ala Single submitter ⚠
p.Thr43Ala Single submitter ⚠
p.Thr447Ile Single submitter ⚠
p.Thr555Ala Single submitter ⚠
p.Thr555Ser Single submitter ⚠
p.Thr723Ile Single submitter ⚠
p.Thr821Met Single submitter ⚠
p.Thr911Pro Single submitter ⚠
p.Trp1535Arg Single submitter ⚠
p.Trp617Arg Single submitter ⚠
p.Trp617Leu Single submitter ⚠
p.Tyr261His Single submitter ⚠
p.Tyr757His Single submitter ⚠
p.Tyr976His Single submitter ⚠
p.Val1017Leu Single submitter ⚠
p.Val1033Met Single submitter ⚠
p.Val115Ile Single submitter ⚠
p.Val1324Met Single submitter ⚠
p.Val1386Ile Single submitter ⚠
p.Val1414Met Single submitter ⚠
p.Val1447Gly Single submitter ⚠
p.Val1477Leu Single submitter ⚠
p.Val1512Leu Single submitter ⚠
p.Val1525Gly Single submitter ⚠
p.Val271Leu Single submitter ⚠
p.Val381Leu Single submitter ⚠
p.Val396Ile Single submitter ⚠
p.Val486Met Single submitter ⚠
p.Val58Phe Single submitter ⚠
p.Val689Leu Single submitter ⚠
p.Val849Leu Single submitter ⚠
p.Trp135Ter No assertion criteria