CDC40 — 50 ClinVar variants
All ClinVar germline CDC40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
1 Pathogenic/Likely pathogenic · 2 Likely benign · 47 Uncertain significance
Full CDC40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDC40 p.Ala33Gly Uncertain significance Single submitter
- CDC40 p.Asn430Lys Uncertain significance Single submitter
- CDC40 p.Glu116Lys Uncertain significance Single submitter
- CDC40 p.Glu176Ala Uncertain significance Single submitter
- CDC40 p.Glu64Gly Uncertain significance Single submitter
- CDC40 p.Gly154Val Uncertain significance Single submitter
- CDC40 p.His549Pro Uncertain significance Single submitter
- CDC40 p.Ile120Val Uncertain significance Single submitter
- CDC40 p.Ile367Val Uncertain significance Single submitter
- CDC40 p.Ile501Ser Uncertain significance Single submitter
- CDC40 p.Met104Leu Uncertain significance Single submitter
- CDC40 p.Met110Thr Uncertain significance Single submitter
- CDC40 p.Met124Val Uncertain significance Single submitter
- CDC40 p.Met246Ile Uncertain significance Single submitter
- CDC40 p.Met481Val Uncertain significance Single submitter
- CDC40 p.Pro450Thr Uncertain significance Single submitter
- CDC40 p.Ser43Leu Uncertain significance Single submitter
- CDC40 p.Thr220Ile Uncertain significance Single submitter
- CDC40 p.Thr468Ser Uncertain significance Single submitter
- CDC40 p.Tyr152His Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CDC40 p.Ala466Thr Uncertain significance Single submitter
- CDC40 p.Arg129Lys Uncertain significance Single submitter
-
CDC40 p.Arg322Trp
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 15
- CDC40 p.Arg323Cys Uncertain significance Single submitter
- CDC40 p.Asn382His Uncertain significance Single submitter
- CDC40 p.Asn497Thr Uncertain significance Single submitter
- CDC40 p.Asn97Thr Uncertain significance Single submitter
- CDC40 p.Asp550Gly Uncertain significance Single submitter
- CDC40 p.Gln172His Uncertain significance Single submitter
- CDC40 p.Gln346Glu Uncertain significance Single submitter
- CDC40 p.Glu211Asp Uncertain significance Single submitter
- CDC40 p.Glu446Asp Uncertain significance Single submitter
- CDC40 p.Gly13Asp Uncertain significance Single submitter
- CDC40 p.Ile329Thr Uncertain significance Single submitter
- CDC40 p.Ile554Val Uncertain significance Single submitter
- CDC40 p.Leu315Val Likely benign Single submitter
- CDC40 p.Lys179Arg Uncertain significance Single submitter
- CDC40 p.Lys222Glu Uncertain significance Single submitter
- CDC40 p.Met110Leu Uncertain significance Single submitter
- CDC40 p.Ser26Asn Uncertain significance Single submitter
- CDC40 p.Ser2Ala Uncertain significance Single submitter
- CDC40 p.Ser36Cys Uncertain significance Single submitter
- CDC40 p.Thr239Ala Uncertain significance Single submitter
- CDC40 p.Tyr114Phe Uncertain significance Single submitter
- CDC40 p.Tyr247Asn Uncertain significance Single submitter
- CDC40 p.Val167Ile Uncertain significance Single submitter
- CDC40 p.Val243Ala Uncertain significance Single submitter
- CDC40 p.Val291Ile Uncertain significance Single submitter
All CDC40 variants
Pathogenic/Likely pathogenic 1
- p.Phe502Cys No assertion criteria Congenital pontocerebellar hypoplasia
Likely benign 2
- p.Gln365= Single submitter
- p.Leu315Val Single submitter ⚠
Uncertain significance 47
- p.Ala33Gly Single submitter ⚠
- p.Ala466Thr Single submitter ⚠
- p.Arg129Lys Single submitter ⚠
- p.Arg322Trp Single submitter pontocerebellar hypoplasia, type 15 ⚠
- p.Arg323Cys Single submitter ⚠
- p.Asn382His Single submitter ⚠
- p.Asn430Lys Single submitter ⚠
- p.Asn497Thr Single submitter ⚠
- p.Asn97Thr Single submitter ⚠
- p.Asp550Gly Single submitter ⚠
- p.Gln172His Single submitter ⚠
- p.Gln346Glu Single submitter ⚠
- p.Glu116Lys Single submitter ⚠
- p.Glu176Ala Single submitter ⚠
- p.Glu211Asp Single submitter ⚠
- p.Glu446Asp Single submitter ⚠
- p.Glu64Gly Single submitter ⚠
- p.Gly13Asp Single submitter ⚠
- p.Gly154Val Single submitter ⚠
- p.His549Pro Single submitter ⚠
- p.Ile120Val Single submitter ⚠
- p.Ile329Thr Single submitter ⚠
- p.Ile367Val Single submitter ⚠
- p.Ile501Ser Single submitter ⚠
- p.Ile554Val Single submitter ⚠
- p.Lys179Arg Single submitter ⚠
- p.Lys222Glu Single submitter ⚠
- p.Met104Leu Single submitter ⚠
- p.Met110Leu Single submitter ⚠
- p.Met110Thr Single submitter ⚠
- p.Met124Val Single submitter ⚠
- p.Met246Ile Single submitter ⚠
- p.Met481Val Single submitter ⚠
- p.Pro450Thr Single submitter ⚠
- p.Ser26Asn Single submitter ⚠
- p.Ser2Ala Single submitter ⚠
- p.Ser36Cys Single submitter ⚠
- p.Ser43Leu Single submitter ⚠
- p.Thr220Ile Single submitter ⚠
- p.Thr239Ala Single submitter ⚠
- p.Thr468Ser Single submitter ⚠
- p.Tyr114Phe Single submitter ⚠
- p.Tyr152His Single submitter ⚠
- p.Tyr247Asn Single submitter ⚠
- p.Val167Ile Single submitter ⚠
- p.Val243Ala Single submitter ⚠
- p.Val291Ile Single submitter ⚠