ABCA9 — 223 ClinVar variants

All ClinVar germline ABCA9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 204 flagged for review →

20 Likely benign · 203 Uncertain significance

Full ABCA9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 204

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 127

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

Predictors split 77

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

All ABCA9 variants

Likely benign 20

p.Tyr1123= Multiple submitters
p.Arg1057Trp Single submitter
p.Cys467Ser Single submitter
p.Gln908Pro Single submitter
p.Glu455= Single submitter
p.His830= Single submitter
p.Ile1108= Single submitter
p.Ile1247Val Single submitter
p.Ile325Val Single submitter
p.Ile816Thr Single submitter
p.Leu1072= Single submitter
p.Lys1555= Single submitter
p.Met1272Val Single submitter
p.Met60Leu Single submitter
p.Met63Val Single submitter
p.Ser1577Asn Single submitter
p.Ser735Pro Single submitter
p.Thr352Arg Single submitter ⚠
p.Val1274= Single submitter
p.Val839Met Single submitter

Uncertain significance 203

p.Ala1071Val Single submitter ⚠
p.Ala1153Thr Single submitter ⚠
p.Ala1196Thr Single submitter ⚠
p.Ala125Thr Single submitter ⚠
p.Ala1285Thr Single submitter ⚠
p.Ala1407Val Single submitter ⚠
p.Ala1492Pro Single submitter ⚠
p.Ala14Ser Single submitter ⚠
p.Ala1567Asp Single submitter ⚠
p.Ala184Val Single submitter ⚠
p.Ala187Thr Single submitter ⚠
p.Ala217Val Single submitter ⚠
p.Ala265Val Single submitter ⚠
p.Ala282Asp Single submitter ⚠
p.Ala282Thr Single submitter ⚠
p.Ala286Asp Single submitter ⚠
p.Ala356Glu Single submitter ⚠
p.Ala449Pro Single submitter ⚠
p.Ala79Thr Single submitter ⚠
p.Arg1008Lys Single submitter ⚠
p.Arg1023Gln Single submitter ⚠
p.Arg1130His Single submitter ⚠
p.Arg1228Lys Single submitter ⚠
p.Arg1275Gln Single submitter ⚠
p.Arg1403Trp Single submitter ⚠
p.Arg145Lys Single submitter ⚠
p.Arg1464Trp Single submitter ⚠
p.Arg1490Gln Single submitter ⚠
p.Arg1562Gln Single submitter ⚠
p.Arg25Lys Single submitter ⚠
p.Arg448Lys Single submitter ⚠
p.Arg550Lys Single submitter ⚠
p.Arg67Cys Single submitter ⚠
p.Arg67Gly Single submitter ⚠
p.Arg768Gly Single submitter ⚠
p.Arg853Cys Single submitter ⚠
p.Arg853His Single submitter ⚠
p.Arg979Trp Single submitter ⚠
p.Asn1157Lys Single submitter ⚠
p.Asn1298Ser Single submitter ⚠
p.Asn163Lys Single submitter ⚠
p.Asn244Asp Single submitter ⚠
p.Asn568Ser Single submitter ⚠
p.Asn920Ser Single submitter ⚠
p.Asn949His Single submitter ⚠
p.Asp1007Glu Single submitter ⚠
p.Asp110Glu Single submitter ⚠
p.Asp1189Glu Single submitter ⚠
p.Asp124Glu Single submitter ⚠
p.Asp1276Gly Single submitter ⚠
p.Asp1605Asn Single submitter ⚠
p.Asp1609Gly Single submitter ⚠
p.Asp666Val Single submitter ⚠
p.Asp722Tyr Single submitter ⚠
p.Asp765Ala Single submitter ⚠
p.Asp767Glu Single submitter ⚠
p.Asp927Asn Single submitter ⚠
p.Cys1222Tyr Single submitter ⚠
p.Cys1299Ser Single submitter ⚠
p.Cys20Ser Single submitter ⚠
p.Cys494Arg Single submitter ⚠
p.Cys721Arg Single submitter ⚠
p.Gln1262Arg Single submitter ⚠
p.Gln1458Pro Single submitter ⚠
p.Gln1545Leu Single submitter ⚠
p.Gln599Lys Single submitter ⚠
p.Gln878Pro Single submitter ⚠
p.Glu1019Lys Single submitter ⚠
p.Glu1454Lys Single submitter ⚠
p.Glu1602Gln Single submitter ⚠
p.Glu263Gly Single submitter ⚠
p.Glu593Lys Single submitter ⚠
p.Glu597Lys Single submitter ⚠
p.Glu604Val Single submitter ⚠
p.Gly1113Asp Single submitter ⚠
p.Gly1178Asp Single submitter ⚠
p.Gly1354Val Single submitter ⚠
p.Gly1391Ser Single submitter ⚠
p.Gly1473Ser Single submitter ⚠
p.Gly299Ala Single submitter ⚠
p.Gly311Val Single submitter ⚠
p.Gly510Val Single submitter ⚠
p.Gly572Glu Single submitter ⚠
p.Gly9Ala Single submitter ⚠
p.His1003Tyr Single submitter ⚠
p.His1212Arg Single submitter ⚠
p.His1212Tyr Single submitter ⚠
p.His137Arg Single submitter ⚠
p.His52Tyr Single submitter ⚠
p.Ile1045Asn Single submitter ⚠
p.Ile105Val Single submitter ⚠
p.Ile1097Phe Single submitter ⚠
p.Ile1098Val Single submitter ⚠
p.Ile1138Met Single submitter ⚠
p.Ile1201Val Single submitter ⚠
p.Ile1283Val Single submitter ⚠
p.Ile1339Met Single submitter ⚠
p.Ile1573Thr Single submitter ⚠
p.Ile280Val Single submitter ⚠
p.Ile315Val Single submitter ⚠
p.Ile325Thr Single submitter ⚠
p.Ile378Thr Single submitter ⚠
p.Ile400Thr Single submitter ⚠
p.Ile481Thr Single submitter ⚠
p.Ile507Val Single submitter ⚠
p.Ile586Leu Single submitter ⚠
p.Ile630Thr Single submitter ⚠
p.Ile681Thr Single submitter ⚠
p.Ile774Thr Single submitter ⚠
p.Ile78Thr Single submitter ⚠
p.Ile797Val Single submitter ⚠
p.Ile802Val Single submitter ⚠
p.Ile938Thr Single submitter ⚠
p.Leu1104Met Single submitter ⚠
p.Leu117Met Single submitter ⚠
p.Leu1518Met Single submitter ⚠
p.Leu1580Val Single submitter ⚠
p.Leu15Phe Single submitter ⚠
p.Leu1619Phe Single submitter ⚠
p.Leu306Phe Single submitter ⚠
p.Leu364Ile Single submitter ⚠
p.Leu365Phe Single submitter ⚠
p.Leu51Phe Single submitter ⚠
p.Leu659Ile Single submitter ⚠
p.Leu660Arg Single submitter ⚠
p.Leu841Phe Single submitter ⚠
p.Leu864Pro Single submitter ⚠
p.Leu986Val Single submitter ⚠
p.Leu994Pro Single submitter ⚠
p.Lys112Asn Single submitter ⚠
p.Lys1415Arg Single submitter ⚠
p.Lys1523Glu Single submitter ⚠
p.Lys1615Asn Single submitter ⚠
p.Lys18Glu Single submitter ⚠
p.Lys625Arg Single submitter ⚠
p.Lys859Arg Single submitter ⚠
p.Lys862Arg Single submitter ⚠
p.Met1088Val Single submitter ⚠
p.Met114Val Single submitter ⚠
p.Met1272Thr Single submitter ⚠
p.Met1459Ile Single submitter ⚠
p.Met1494Thr Single submitter ⚠
p.Met1528Ile Single submitter ⚠
p.Met199Arg Single submitter ⚠
p.Met199Ile Single submitter ⚠
p.Met256Thr Single submitter ⚠
p.Met273Thr Single submitter ⚠
p.Met63Ile Single submitter ⚠
p.Phe1027Val Single submitter ⚠
p.Phe1099Leu Single submitter ⚠
p.Phe1127Leu Single submitter ⚠
p.Phe130Tyr Single submitter ⚠
p.Phe226Val Single submitter ⚠
p.Phe38Ile Single submitter ⚠
p.Pro1031Gln Single submitter ⚠
p.Pro1209Ala Single submitter ⚠
p.Pro1368Leu Single submitter ⚠
p.Pro1417Ala Single submitter ⚠
p.Pro1530Ala Single submitter ⚠
p.Pro536Ser Single submitter ⚠
p.Pro723Leu Single submitter ⚠
p.Pro893Leu Single submitter ⚠
p.Ser1009Thr Single submitter ⚠
p.Ser1313Pro Single submitter ⚠
p.Ser1510Thr Single submitter ⚠
p.Ser156Pro Single submitter ⚠
p.Ser197Ala Single submitter ⚠
p.Ser313Pro Single submitter ⚠
p.Ser322Gly Single submitter ⚠
p.Ser619Asn Single submitter ⚠
p.Ser672Asn Single submitter ⚠
p.Ser699Phe Single submitter ⚠
p.Ser725Cys Single submitter ⚠
p.Thr1268Ile Single submitter ⚠
p.Thr1343Ala Single submitter ⚠
p.Thr1478Ile Single submitter ⚠
p.Thr253Met Single submitter ⚠
p.Thr305Ile Single submitter ⚠
p.Thr463Ala Single submitter ⚠
p.Thr57Ile Single submitter ⚠
p.Trp108Arg Single submitter ⚠
p.Tyr1159Cys Single submitter ⚠
p.Tyr1366Asp Single submitter ⚠
p.Tyr1554Cys Single submitter ⚠
p.Tyr351Cys Single submitter ⚠
p.Tyr419His Single submitter ⚠
p.Tyr544Asn Single submitter ⚠
p.Val1274Met Single submitter ⚠
p.Val1282Ile Single submitter ⚠
p.Val1389Met Single submitter ⚠
p.Val1487Met Single submitter ⚠
p.Val1553Ile Single submitter ⚠
p.Val1614Met Single submitter ⚠
p.Val205Ile Single submitter ⚠
p.Val243Gly Single submitter ⚠
p.Val334Ile Single submitter ⚠
p.Val335Leu Single submitter ⚠
p.Val372Ile Single submitter ⚠
p.Val54Ile Single submitter ⚠
p.Val601Ile Single submitter ⚠
p.Val68Leu Single submitter ⚠
p.Val8Met Single submitter ⚠
p.Val985Leu Single submitter ⚠