CDC42BPA — 184 ClinVar variants

All ClinVar germline CDC42BPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

6 Benign · 1 Benign/Likely benign · 8 Likely benign · 169 Uncertain significance

Full CDC42BPA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 99

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

Predictors split 72

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

All CDC42BPA variants

Benign 6

p.Ser1661= Multiple submitters
p.Thr290= Multiple submitters
c.3776-8T>G Single submitter
p.Arg1233His Single submitter
p.Gln1100= Single submitter
p.Thr231Met Single submitter ⚠

Benign/Likely benign 1

p.Ser884= Multiple submitters

Likely benign 8

p.Arg1032His Single submitter
p.Arg1159= Single submitter
p.Asn1516Ser Single submitter
p.Ser1485= Single submitter
p.Thr539= Single submitter
p.Thr746Asn Single submitter ⚠
p.Tyr790Cys Single submitter
p.Val477Ala Single submitter

Uncertain significance 169

p.Arg1681Gln Multiple submitters ⚠
p.Ala1106Pro Single submitter ⚠
p.Ala1170Val Single submitter ⚠
p.Ala1256Thr Single submitter ⚠
p.Ala1348Val Single submitter ⚠
p.Ala1472Ser Single submitter ⚠
p.Ala1491Val Single submitter ⚠
p.Ala1662Thr Single submitter ⚠
p.Ala1667Val Single submitter ⚠
p.Ala1679Ser Single submitter ⚠
p.Ala420Val Single submitter ⚠
p.Ala483Val Single submitter ⚠
p.Ala640Val Single submitter ⚠
p.Ala808Gly Single submitter ⚠
p.Ala963Val Single submitter ⚠
p.Arg1178Gln Single submitter ⚠
p.Arg1310Cys Single submitter ⚠
p.Arg1371Cys Single submitter ⚠
p.Arg1371His Single submitter ⚠
p.Arg1461Gln Single submitter ⚠
p.Arg1553Gln Single submitter ⚠
p.Arg1564Trp Single submitter ⚠
p.Arg1565Cys Single submitter ⚠
p.Arg1565His Single submitter ⚠
p.Arg1575Lys Single submitter ⚠
p.Arg1648Cys Single submitter ⚠
p.Arg1681Trp Single submitter ⚠
p.Arg1737Gln Single submitter ⚠
p.Arg1749Gly Single submitter ⚠
p.Arg433Thr Single submitter ⚠
p.Arg520Met Single submitter ⚠
p.Arg601Gln Single submitter ⚠
p.Arg74Gly Single submitter ⚠
p.Arg835Gln Single submitter ⚠
p.Arg85Gln Single submitter ⚠
p.Arg939Ile Single submitter ⚠
p.Asn1287Lys Single submitter ⚠
p.Asn1298Tyr Single submitter ⚠
p.Asn1408Ser Single submitter ⚠
p.Asn380Tyr Single submitter ⚠
p.Asn43Ser Single submitter ⚠
p.Asn792Ile Single submitter ⚠
p.Asn98Ser Single submitter ⚠
p.Asp100Val Single submitter ⚠
p.Asp1139Asn Single submitter ⚠
p.Asp1243Gly Single submitter ⚠
p.Asp1326Asn Single submitter ⚠
p.Asp133Gly Single submitter ⚠
p.Asp1496Glu Single submitter ⚠
p.Asp1712Asn Single submitter ⚠
p.Asp426Ala Single submitter ⚠
p.Asp525Asn Single submitter ⚠
p.Asp809Gly Single submitter ⚠
p.Asp962Asn Single submitter ⚠
p.Cys1084Tyr Single submitter ⚠
p.Cys271Ser Single submitter ⚠
p.Gln1036Pro Single submitter ⚠
p.Gln1359Glu Single submitter ⚠
p.Gln1367Arg Single submitter ⚠
p.Gln24Arg Single submitter ⚠
p.Gln24His Single submitter ⚠
p.Gln463His Single submitter ⚠
p.Gln561His Single submitter ⚠
p.Gln799Lys Single submitter ⚠
p.Glu118Gly Single submitter ⚠
p.Glu1542Lys Single submitter ⚠
p.Glu50Gly Single submitter ⚠
p.Glu515Lys Single submitter ⚠
p.Glu650Val Single submitter ⚠
p.Glu660Gly Single submitter ⚠
p.Glu662Asp Single submitter ⚠
p.Glu735Gln Single submitter ⚠
p.Glu801Lys Single submitter ⚠
p.Glu929Lys Single submitter ⚠
p.Gly1695Arg Single submitter ⚠
p.Gly1710Arg Single submitter ⚠
p.Gly1750Arg Single submitter ⚠
p.Gly278Arg Single submitter ⚠
p.Gly479Asp Single submitter ⚠
p.Gly479Ser Single submitter ⚠
p.His1260Pro Single submitter ⚠
p.His1275Arg Single submitter ⚠
p.His1429Tyr Single submitter ⚠
p.His1718Tyr Single submitter ⚠
p.His634Asn Single submitter ⚠
p.His816Gln Single submitter ⚠
p.His951Asp Single submitter ⚠
p.Ile1156Thr Single submitter ⚠
p.Ile1201Val Single submitter ⚠
p.Ile1602Val Single submitter ⚠
p.Ile187Leu Single submitter ⚠
p.Ile189Thr Single submitter ⚠
p.Ile189Val Single submitter ⚠
p.Ile359Val Single submitter ⚠
p.Ile496Thr Single submitter ⚠
p.Ile537Met Single submitter ⚠
p.Ile680Val Single submitter ⚠
p.Ile710Val Single submitter ⚠
p.Leu1218Pro Single submitter ⚠
p.Leu1265Val Single submitter ⚠
p.Leu32Arg Single submitter ⚠
p.Leu456Val Single submitter ⚠
p.Leu771Phe Single submitter ⚠
p.Leu793Ser Single submitter ⚠
p.Leu807Ile Single submitter ⚠
p.Lys1509Gln Single submitter ⚠
p.Lys1641Arg Single submitter ⚠
p.Lys293Arg Single submitter ⚠
p.Lys51Glu Single submitter ⚠
p.Lys695Glu Single submitter ⚠
p.Met113Ile Single submitter ⚠
p.Met1317Thr Single submitter ⚠
p.Met1416Ile Single submitter ⚠
p.Met1582Val Single submitter ⚠
p.Met1605Val Single submitter ⚠
p.Met185Thr Single submitter ⚠
p.Met272Val Single submitter ⚠
p.Met580Thr Single submitter ⚠
p.Met611Val Single submitter ⚠
p.Met845Ile Single submitter ⚠
p.Phe1042Ser Single submitter ⚠
p.Phe579Cys Single submitter ⚠
p.Phe967Ser Single submitter ⚠
p.Pro1009Leu Single submitter ⚠
p.Pro1015Thr Single submitter ⚠
p.Pro1507Leu Single submitter ⚠
p.Pro1621Ala Single submitter ⚠
p.Pro1687Thr Single submitter ⚠
p.Pro1716Leu Single submitter ⚠
p.Pro1716Ser Single submitter ⚠
p.Pro1731Arg Single submitter ⚠
p.Pro1731Thr Single submitter ⚠
p.Pro174Thr Single submitter ⚠
p.Pro341Leu Single submitter ⚠
p.Pro341Ser Single submitter ⚠
p.Pro46Leu Single submitter ⚠
p.Pro62Thr Single submitter ⚠
p.Ser1053Ala Single submitter ⚠
p.Ser1415Asn Single submitter ⚠
p.Ser1425Leu Single submitter ⚠
p.Ser1476Cys Single submitter ⚠
p.Ser1485Leu Single submitter ⚠
p.Ser1654Arg Single submitter ⚠
p.Ser1701Asn Single submitter ⚠
p.Ser1728Thr Single submitter ⚠
p.Ser1735Thr Single submitter ⚠
p.Ser1751Asn Single submitter ⚠
p.Ser27Asn Single submitter ⚠
p.Ser750Gly Single submitter ⚠
p.Thr1046Ile Single submitter ⚠
p.Thr1091Arg Single submitter ⚠
p.Thr139Ala Single submitter ⚠
p.Thr1628Lys Single submitter ⚠
p.Thr308Ile Single submitter ⚠
p.Thr419Ala Single submitter ⚠
p.Thr419Met Single submitter ⚠
p.Thr466Ala Single submitter ⚠
p.Thr635Ile Single submitter ⚠
p.Thr687Ala Single submitter ⚠
p.Trp1123Cys Single submitter ⚠
p.Trp1123Leu Single submitter ⚠
p.Tyr1455His Single submitter ⚠
p.Tyr157Cys Single submitter ⚠
p.Val1111Leu Single submitter ⚠
p.Val1165Met Single submitter ⚠
p.Val238Ile Single submitter ⚠
p.Val409Leu Single submitter ⚠
p.Val503Ile Single submitter ⚠
p.Val94Ala Single submitter ⚠