ABCA8 — 260 ClinVar variants

All ClinVar germline ABCA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 240 flagged for review →

1 Pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 15 Likely benign · 238 Uncertain significance

Full ABCA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 240

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.

ABCA8 p.Gln930Glu Conflicting Single submitter

Predictors lean, ClinVar uncertain 154

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 154

Predictors split 85

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

All ABCA8 variants

Pathogenic 1

p.Ser779_Met780insTer No assertion criteria hypercholesterolemia, familial, 1

Conflicting classifications of pathogenicity 1

p.Gln930Glu Single submitter ⚠

Benign 4

c.4200-1G>C Multiple submitters
p.Gly1225Glu Multiple submitters
p.Met251Ile Multiple submitters
p.Ala809Val Single submitter

Benign/Likely benign 1

p.Ile542= Multiple submitters

Likely benign 15

p.Ala147Thr Single submitter
p.Arg1056Trp Single submitter
p.Asn964Ser Single submitter
p.His934= Single submitter
p.Ile294= Single submitter
p.Leu180Phe Single submitter ⚠
p.Leu60Pro Single submitter
p.Lys692Arg Single submitter
p.Ser1061Phe Single submitter ⚠
p.Ser1413Ala Single submitter
p.Ser213Pro Single submitter
p.Ser392Leu Single submitter
p.Val1001Ala Single submitter
p.Val1144Ile Single submitter
p.Val989Ile Single submitter

Uncertain significance 238

c.3316-8G>T Single submitter
p.Ala1109Val Single submitter ⚠
p.Ala1344Ser Single submitter ⚠
p.Ala1384Val Single submitter ⚠
p.Ala1385Thr Single submitter ⚠
p.Ala1394Val Single submitter ⚠
p.Ala1404Val Single submitter ⚠
p.Ala1462Val Single submitter ⚠
p.Ala147Val Single submitter ⚠
p.Ala1564Val Single submitter ⚠
p.Ala182Gly Single submitter ⚠
p.Ala182Thr Single submitter ⚠
p.Ala183Asp Single submitter ⚠
p.Ala387Val Single submitter ⚠
p.Ala479Asp Single submitter ⚠
p.Ala479Thr Single submitter ⚠
p.Ala498Gly Single submitter ⚠
p.Ala498Thr Single submitter ⚠
p.Ala696Thr Single submitter ⚠
p.Ala847Thr Single submitter ⚠
p.Ala849Ser Single submitter ⚠
p.Arg1052Gln Single submitter ⚠
p.Arg1052Trp Single submitter ⚠
p.Arg1194Gln Single submitter ⚠
p.Arg1218Gln Single submitter ⚠
p.Arg1286Cys Single submitter ⚠
p.Arg1400Trp Single submitter ⚠
p.Arg1461Gln Single submitter ⚠
p.Arg1461Trp Single submitter ⚠
p.Arg1541Gln Single submitter ⚠
p.Arg1541Pro Single submitter ⚠
p.Arg250Gly Single submitter ⚠
p.Arg261Trp Single submitter ⚠
p.Arg289Ser Single submitter ⚠
p.Arg430Leu Single submitter ⚠
p.Arg431Cys Single submitter ⚠
p.Arg817Ser Single submitter ⚠
p.Arg852His Single submitter ⚠
p.Asn1325His Single submitter ⚠
p.Asn1325Ser Single submitter ⚠
p.Asn544Lys Single submitter ⚠
p.Asn567Lys Single submitter ⚠
p.Asn829Lys Single submitter ⚠
p.Asn964Asp Single submitter ⚠
p.Asn975Ser Single submitter ⚠
p.Asp1016Asn Single submitter ⚠
p.Asp1045Asn Single submitter ⚠
p.Asp1046Val Single submitter ⚠
p.Asp1442Gly Single submitter ⚠
p.Asp460Asn Single submitter ⚠
p.Asp494Gly Single submitter ⚠
p.Asp55Ala Single submitter ⚠
p.Asp68Tyr Single submitter ⚠
p.Asp764Val Single submitter ⚠
p.Asp814Asn Single submitter ⚠
p.Cys1427Arg Single submitter ⚠
p.Cys1485Gly Single submitter ⚠
p.Cys695Arg Single submitter ⚠
p.Gln1246Lys Single submitter ⚠
p.Gln1458Arg Single submitter ⚠
p.Gln1458Lys Single submitter ⚠
p.Gln1618His Single submitter ⚠
p.Gln823Lys Single submitter ⚠
p.Glu1094Lys Single submitter ⚠
p.Glu111Asp Single submitter ⚠
p.Glu1192Lys Single submitter ⚠
p.Glu1254Lys Single submitter ⚠
p.Glu1468Lys Single submitter ⚠
p.Glu1604Gly Single submitter ⚠
p.Glu1604Lys Single submitter ⚠
p.Glu1605Lys Single submitter ⚠
p.Glu160Gln Single submitter ⚠
p.Glu478Gln Single submitter ⚠
p.Glu722Lys Single submitter ⚠
p.Glu723Lys Single submitter ⚠
p.Glu743Lys Single submitter ⚠
p.Glu806Ala Single submitter ⚠
p.Glu880Gly Single submitter ⚠
p.Glu965Lys Single submitter ⚠
p.Gly1020Arg Single submitter ⚠
p.Gly1295Ala Single submitter ⚠
p.Gly1355Glu Single submitter ⚠
p.Gly1362Trp Single submitter ⚠
p.Gly142Glu Single submitter ⚠
p.Gly1452Arg Single submitter ⚠
p.Gly1470Ala Single submitter ⚠
p.Gly1470Val Single submitter ⚠
p.Gly1494Arg Single submitter ⚠
p.Gly1500Ser Single submitter ⚠
p.Gly176Ser Single submitter ⚠
p.Gly206Ala Single submitter ⚠
p.Gly342Glu Single submitter ⚠
p.Gly394Cys Single submitter ⚠
p.Gly476Glu Single submitter ⚠
p.Gly519Ala Single submitter ⚠
p.Gly538Asp Single submitter ⚠
p.Gly805Arg Single submitter ⚠
p.Gly837Asp Single submitter ⚠
p.Gly995Arg Single submitter ⚠
p.His1529Gln Single submitter ⚠
p.His212Arg Single submitter ⚠
p.His898Pro Single submitter ⚠
p.Ile1019Val Single submitter ⚠
p.Ile1057Thr Single submitter ⚠
p.Ile1090Leu Single submitter ⚠
p.Ile1090Phe Single submitter ⚠
p.Ile1117Met Single submitter ⚠
p.Ile1126Thr Single submitter ⚠
p.Ile1237Thr Single submitter ⚠
p.Ile1280Val Single submitter ⚠
p.Ile1490Phe Single submitter ⚠
p.Ile230Leu Single submitter ⚠
p.Ile279Val Single submitter ⚠
p.Ile294Phe Single submitter ⚠
p.Ile398Thr Single submitter ⚠
p.Ile422Thr Single submitter ⚠
p.Ile528Val Single submitter ⚠
p.Ile917Met Single submitter ⚠
p.Ile929Thr Single submitter ⚠
p.Ile959Val Single submitter ⚠
p.Ile988Thr Single submitter ⚠
p.Leu1116Phe Single submitter ⚠
p.Leu1184Phe Single submitter ⚠
p.Leu1204Val Single submitter ⚠
p.Leu1217Arg Single submitter ⚠
p.Leu1217Phe Single submitter ⚠
p.Leu1319Ser Single submitter ⚠
p.Leu1370Val Single submitter ⚠
p.Leu1389Met Single submitter ⚠
p.Leu1496Val Single submitter ⚠
p.Leu1548Pro Single submitter ⚠
p.Leu260Ile Single submitter ⚠
p.Leu286His Single submitter ⚠
p.Leu313Ser Single submitter ⚠
p.Leu353Ile Single submitter ⚠
p.Leu39Pro Single submitter ⚠
p.Leu41Pro Single submitter ⚠
p.Leu526Pro Single submitter ⚠
p.Leu589Val Single submitter ⚠
p.Leu728Pro Single submitter ⚠
p.Leu765Phe Single submitter ⚠
p.Lys1226Asn Single submitter ⚠
p.Lys1231Asn Single submitter ⚠
p.Lys1294Gln Single submitter ⚠
p.Lys207Arg Single submitter ⚠
p.Lys325Asn Single submitter ⚠
p.Lys495Glu Single submitter ⚠
p.Lys546Gln Single submitter ⚠
p.Lys586Glu Single submitter ⚠
p.Lys855Glu Single submitter ⚠
p.Met1087Arg Single submitter ⚠
p.Met1087Ile Single submitter ⚠
p.Met1096Val Single submitter ⚠
p.Met1229Ile Single submitter ⚠
p.Met1260Val Single submitter ⚠
p.Met1456Thr Single submitter ⚠
p.Met1517Ile Single submitter ⚠
p.Met255Thr Single submitter ⚠
p.Met26Ile Single submitter ⚠
p.Met280Val Single submitter ⚠
p.Met320Ile Single submitter ⚠
p.Met320Val Single submitter ⚠
p.Met373Arg Single submitter ⚠
p.Met404Ile Single submitter ⚠
p.Met404Leu Single submitter ⚠
p.Met90Ile Single submitter ⚠
p.Met986Ile Single submitter ⚠
p.Met986Thr Single submitter ⚠
p.Phe1139Val Single submitter ⚠
p.Phe1152Tyr Single submitter ⚠
p.Phe1167Ser Single submitter ⚠
p.Phe1603Ile Single submitter ⚠
p.Phe214Ser Single submitter ⚠
p.Phe276Ser Single submitter ⚠
p.Phe369Leu Single submitter ⚠
p.Phe436Ser Single submitter ⚠
p.Phe650Leu Single submitter ⚠
p.Phe787Leu Single submitter ⚠
p.Pro1170Gln Single submitter ⚠
p.Pro121Thr Single submitter ⚠
p.Pro1239Leu Single submitter ⚠
p.Pro1342Arg Single submitter ⚠
p.Pro1444Leu Single submitter ⚠
p.Pro1609His Single submitter ⚠
p.Pro535Leu Single submitter ⚠
p.Pro590Gln Single submitter ⚠
p.Pro643Leu Single submitter ⚠
p.Pro734Ser Single submitter ⚠
p.Pro751Leu Single submitter ⚠
p.Pro769Leu Single submitter ⚠
p.Pro911Ser Single submitter ⚠
p.Ser1000Pro Single submitter ⚠
p.Ser1033Leu Single submitter ⚠
p.Ser1088Thr Single submitter ⚠
p.Ser1419Thr Single submitter ⚠
p.Ser1437Thr Single submitter ⚠
p.Ser1501Cys Single submitter ⚠
p.Ser218Leu Single submitter ⚠
p.Ser228Thr Single submitter ⚠
p.Ser263Leu Single submitter ⚠
p.Ser518Asn Single submitter ⚠
p.Ser566Cys Single submitter ⚠
p.Ser742Thr Single submitter ⚠
p.Thr1099Ala Single submitter ⚠
p.Thr1474Asn Single submitter ⚠
p.Thr1474Ile Single submitter ⚠
p.Thr161Arg Single submitter ⚠
p.Thr83Ile Single submitter ⚠
p.Thr85Arg Single submitter ⚠
p.Thr946Ser Single submitter ⚠
p.Trp1066Cys Single submitter ⚠
p.Trp1222Arg Single submitter ⚠
p.Trp341Cys Single submitter ⚠
p.Trp359Cys Single submitter ⚠
p.Trp656Arg Single submitter ⚠
p.Tyr1085Ser Single submitter ⚠
p.Tyr1121His Single submitter ⚠
p.Tyr1545Ser Single submitter ⚠
p.Tyr166Ser Single submitter ⚠
p.Tyr239Cys Single submitter ⚠
p.Tyr273Asp Single submitter ⚠
p.Tyr273His Single submitter ⚠
p.Tyr381His Single submitter ⚠
p.Tyr710Cys Single submitter ⚠
p.Tyr768Ser Single submitter ⚠
p.Tyr776His Single submitter ⚠
p.Tyr968Cys Single submitter ⚠
p.Val1082Ile Single submitter ⚠
p.Val1144Asp Single submitter ⚠
p.Val1386Met Single submitter ⚠
p.Val1525Met Single submitter ⚠
p.Val1590Ile Single submitter ⚠
p.Val171Ala Single submitter ⚠
p.Val171Glu Single submitter ⚠
p.Val204Ile Single submitter ⚠
p.Val838Gly Single submitter ⚠
p.Val879Met Single submitter ⚠
p.Val93Leu Single submitter ⚠