Sugi Variant

Sugi Variant/CDC42

CDC42 — 139 ClinVar variants

All ClinVar germline CDC42 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 1 Conflicting · 12 Benign · 2 Benign/Likely benign · 60 Likely benign · 42 Uncertain significance

Full CDC42 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 30

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 18

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

Predictors split 10

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

All CDC42 variants

Pathogenic 9

  • p.Ala159Val Multiple submitters
  • p.Arg186Cys Multiple submitters hereditary hemophagocytic lymphohistiocytosis ⚠
  • p.Arg66Gly Multiple submitters macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  • p.Arg68Gln Multiple submitters macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  • p.Glu171Lys Multiple submitters Noonan-like syndrome
  • p.Ser83Pro Multiple submitters macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  • p.Tyr23Cys Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Cys188Tyr Single submitter
  • p.Tyr64Ser No assertion criteria

Pathogenic/Likely pathogenic 1

  • p.Tyr64Cys Multiple submitters Inborn genetic diseases

Likely pathogenic 12

  • p.Cys81Phe Multiple submitters macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  • p.Val42Ile Multiple submitters
  • p.Asp170Gly Single submitter
  • p.Asp76Val Single submitter macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  • p.Gln116Glu Single submitter
  • p.Ile21Thr Single submitter macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  • p.Ile46Thr Single submitter macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  • p.Ser185fs Single submitter CDC42-related disorder
  • p.Thr24Pro Single submitter
  • p.Trp97Cys Single submitter macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
  • p.Tyr23Asn Single submitter
  • p.Tyr23His Single submitter congenital heart disease

Conflicting classifications of pathogenicity 1

Benign 12

Benign/Likely benign 2

Likely benign 60

Uncertain significance 42