CDC42EP1 — 90 ClinVar variants

All ClinVar germline CDC42EP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

5 Benign · 5 Likely benign · 80 Uncertain significance

Full CDC42EP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 54

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

Predictors split 26

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

All CDC42EP1 variants

Benign 5

p.Glu184= Multiple submitters
p.Gly308= Multiple submitters
p.His67= Multiple submitters
p.Leu194= Multiple submitters
p.Thr372= Multiple submitters

Likely benign 5

p.Ala254= Single submitter
p.Arg359Gly Single submitter
p.His173Arg Single submitter
p.Pro232Ser Single submitter
p.Thr235Ala Single submitter

Uncertain significance 80

p.Leu344Pro Multiple submitters ⚠
p.Ala10Thr Single submitter ⚠
p.Ala129Ser Single submitter ⚠
p.Ala228Thr Single submitter ⚠
p.Ala236Glu Single submitter ⚠
p.Ala275Gly Single submitter ⚠
p.Ala313Ser Single submitter ⚠
p.Ala323Val Single submitter ⚠
p.Ala336Ser Single submitter ⚠
p.Ala363Thr Single submitter ⚠
p.Ala375Glu Single submitter ⚠
p.Arg165His Single submitter ⚠
p.Arg168Cys Single submitter ⚠
p.Arg175Gln Single submitter ⚠
p.Arg177Trp Single submitter ⚠
p.Arg197Cys Single submitter ⚠
p.Arg337Trp Single submitter ⚠
p.Arg348Gln Single submitter ⚠
p.Arg46His Single submitter ⚠
p.Arg76Cys Single submitter ⚠
p.Arg79His Single submitter ⚠
p.Arg79Pro Single submitter ⚠
p.Arg90Gln Single submitter ⚠
p.Arg98Lys Single submitter ⚠
p.Asn230Lys Single submitter ⚠
p.Asp131Asn Single submitter ⚠
p.Asp141Asn Single submitter ⚠
p.Asp149Asn Single submitter ⚠
p.Asp382Asn Single submitter ⚠
p.Asp387Tyr Single submitter ⚠
p.Cys286Tyr Single submitter ⚠
p.Glu356Lys Single submitter ⚠
p.Gly159Ala Single submitter ⚠
p.Gly179Asp Single submitter ⚠
p.Gly179Cys Single submitter ⚠
p.Gly179Val Single submitter ⚠
p.Gly186Arg Single submitter ⚠
p.Gly29Arg Single submitter ⚠
p.Gly311Glu Single submitter ⚠
p.Gly314Ser Single submitter ⚠
p.Gly318Ser Single submitter ⚠
p.Gly3Asp Single submitter ⚠
p.Gly3Ser Single submitter ⚠
p.Gly43Arg Single submitter ⚠
p.Gly55Arg Single submitter ⚠
p.Gly59Arg Single submitter ⚠
p.Gly68Ser Single submitter ⚠
p.Gly93Arg Single submitter ⚠
p.Gly93Glu Single submitter ⚠
p.Leu125Phe Single submitter ⚠
p.Leu82Met Single submitter ⚠
p.Met334Arg Single submitter ⚠
p.Met334Thr Single submitter ⚠
p.Phe378Val Single submitter ⚠
p.Phe45Leu Single submitter ⚠
p.Pro102Leu Single submitter ⚠
p.Pro182Ser Single submitter ⚠
p.Pro217Leu Single submitter ⚠
p.Pro231Leu Single submitter ⚠
p.Pro232Gln Single submitter ⚠
p.Pro238Ser Single submitter ⚠
p.Pro252Ala Single submitter ⚠
p.Pro276Thr Single submitter ⚠
p.Pro361Ser Single submitter ⚠
p.Pro95Ser Single submitter ⚠
p.Pro96Ala Single submitter ⚠
p.Ser132Asn Single submitter ⚠
p.Ser142Asn Single submitter ⚠
p.Ser158Pro Single submitter ⚠
p.Ser169Leu Single submitter ⚠
p.Ser190Phe Single submitter ⚠
p.Ser19Leu Single submitter ⚠
p.Ser26Thr Single submitter ⚠
p.Ser279Gly Single submitter ⚠
p.Ser303Gly Single submitter ⚠
p.Ser65Asn Single submitter ⚠
p.Ser80Gly Single submitter ⚠
p.Thr239Met Single submitter ⚠
p.Thr248Ala Single submitter ⚠
p.Val300Met Single submitter ⚠