ABI3BP — 150 ClinVar variants

All ClinVar germline ABI3BP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

7 Likely benign · 143 Uncertain significance

Full ABI3BP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 100

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

Predictors split 16

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

All ABI3BP variants

Likely benign 7

p.Ala289Thr Single submitter
p.Arg1219His Single submitter
p.Glu314Lys Single submitter
p.Ile276Val Single submitter
p.Ile460Val Single submitter
p.Pro549Leu Single submitter
p.Thr498= Single submitter

Uncertain significance 143

p.Ala1237Thr Single submitter ⚠
p.Ala1342Val Single submitter ⚠
p.Ala1644Glu Single submitter
p.Ala1644Val Single submitter
p.Ala234Val Single submitter ⚠
p.Ala501Val Single submitter
p.Arg113His Single submitter ⚠
p.Arg115Cys Single submitter ⚠
p.Arg1209His Single submitter ⚠
p.Arg1219Cys Single submitter ⚠
p.Arg1234Cys Single submitter ⚠
p.Arg1345Ile Single submitter ⚠
p.Arg1400Ser Single submitter ⚠
p.Arg1416His Single submitter ⚠
p.Arg1417Cys Single submitter ⚠
p.Arg1417His Single submitter ⚠
p.Arg1458Ser Single submitter ⚠
p.Arg1515Gln Single submitter ⚠
p.Arg1533Trp Single submitter ⚠
p.Arg159His Single submitter
p.Arg1647Gly Single submitter
p.Arg1663Ile Single submitter
p.Arg238Gly Single submitter ⚠
p.Arg326Gly Single submitter ⚠
p.Arg337Lys Single submitter ⚠
p.Arg515His Single submitter ⚠
p.Arg517Trp Single submitter ⚠
p.Arg522Lys Single submitter ⚠
p.Arg97Gln Single submitter ⚠
p.Asn1554His Single submitter
p.Asn1611Lys Single submitter
p.Asn1694His Single submitter
p.Asn281Asp Single submitter ⚠
p.Asn37Ser Single submitter ⚠
p.Asn53Lys Single submitter ⚠
p.Asn53Ser Single submitter ⚠
p.Asp1668Asn Single submitter
p.Asp229Tyr Single submitter ⚠
p.Asp257Val Single submitter ⚠
p.Asp458Gly Single submitter
p.Cys11Tyr Single submitter ⚠
p.Gln1206His Single submitter ⚠
p.Gln1716His Single submitter ⚠
p.Gln22Glu Single submitter ⚠
p.Gln302Glu Single submitter ⚠
p.Gln470His Single submitter
p.Glu1266Gly Single submitter ⚠
p.Glu1292Lys Single submitter
p.Glu1310Gly Single submitter ⚠
p.Glu1324Gly Single submitter ⚠
p.Glu1335Ala Single submitter ⚠
p.Glu1630Gly Single submitter ⚠
p.Glu166Gln Single submitter ⚠
p.Glu407Lys Single submitter ⚠
p.Glu419Gln Single submitter ⚠
p.Gly123Asp Single submitter
p.Gly1397Arg Single submitter ⚠
p.Gly1542Trp Single submitter ⚠
p.Gly1689Arg Single submitter
p.Gly19Glu Single submitter ⚠
p.Gly269Glu Single submitter ⚠
p.Gly279Cys Single submitter
p.His255Arg Single submitter ⚠
p.His255Gln Single submitter ⚠
p.Ile1222Val Single submitter ⚠
p.Ile1302Leu Single submitter ⚠
p.Ile43Ser Single submitter
p.Ile538Thr Single submitter ⚠
p.Leu10Ile Single submitter ⚠
p.Leu267Pro Single submitter ⚠
p.Leu309Trp Single submitter ⚠
p.Leu44Ile Single submitter ⚠
p.Leu468Phe Single submitter ⚠
p.Lys1390Asn Single submitter ⚠
p.Lys1686Asn Single submitter
p.Lys1699Gln Single submitter ⚠
p.Lys1747Ile Single submitter ⚠
p.Lys195Asn Single submitter ⚠
p.Lys239Glu Single submitter ⚠
p.Lys300Arg Single submitter ⚠
p.Lys553Asn Single submitter ⚠
p.Lys55Arg Single submitter ⚠
p.Met292Lys Single submitter
p.Met495Ile Single submitter ⚠
p.Phe1326Ser Single submitter ⚠
p.Phe136Tyr Single submitter ⚠
p.Phe1509Leu Single submitter ⚠
p.Pro101Thr Single submitter ⚠
p.Pro102Ala Single submitter ⚠
p.Pro1227Gln Single submitter ⚠
p.Pro1252Leu Single submitter ⚠
p.Pro127Leu Single submitter ⚠
p.Pro1325His Single submitter ⚠
p.Pro1362Arg Single submitter ⚠
p.Pro1424Ser Single submitter ⚠
p.Pro1434Ser Single submitter ⚠
p.Pro1497Ser Single submitter
p.Pro1507Leu Single submitter ⚠
p.Pro266Ser Single submitter ⚠
p.Pro312Ala Single submitter ⚠
p.Pro497Ala Single submitter
p.Pro525Thr Single submitter ⚠
p.Pro549Ser Single submitter ⚠
p.Pro74Arg Single submitter ⚠
p.Ser133Phe Single submitter
p.Ser1649Asn Single submitter ⚠
p.Ser224Gly Single submitter ⚠
p.Ser344Pro Single submitter ⚠
p.Ser418Phe Single submitter ⚠
p.Thr1241Met Single submitter ⚠
p.Thr1251Ser Single submitter ⚠
p.Thr1293Arg Single submitter ⚠
p.Thr1322Ala Single submitter
p.Thr1333Ile Single submitter ⚠
p.Thr1407Ala Single submitter ⚠
p.Thr1410Ile Single submitter ⚠
p.Thr1498Ala Single submitter ⚠
p.Thr1540Ile Single submitter ⚠
p.Thr211Ala Single submitter ⚠
p.Thr254Ile Single submitter ⚠
p.Thr328Ser Single submitter ⚠
p.Thr342Ala Single submitter ⚠
p.Thr343Met Single submitter ⚠
p.Thr438Ala Single submitter ⚠
p.Thr474Pro Single submitter ⚠
p.Thr505Ile Single submitter ⚠
p.Thr547Arg Single submitter ⚠
p.Thr548Ala Single submitter ⚠
p.Trp546Ser Single submitter ⚠
p.Tyr1264His Single submitter ⚠
p.Tyr1347Cys Single submitter ⚠
p.Tyr1711Cys Single submitter
p.Tyr226Cys Single submitter ⚠
p.Tyr63Cys Single submitter
p.Tyr72His Single submitter
p.Val1257Leu Single submitter ⚠
p.Val1389Asp Single submitter ⚠
p.Val1531Ile Single submitter ⚠
p.Val1648Gly Single submitter
p.Val1727Ala Single submitter ⚠
p.Val232Met Single submitter ⚠
p.Val320Ala Single submitter ⚠
p.Val569Gly Single submitter ⚠