Sugi Variant

Sugi Variant/CDC42BPB

CDC42BPB — 559 ClinVar variants

All ClinVar germline CDC42BPB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 313 flagged for review →

7 Pathogenic · 3 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 6 Conflicting · 13 Benign · 2 Benign/Likely benign · 142 Likely benign · 353 Uncertain significance

Full CDC42BPB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 313

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 3

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

Predictors agree, ClinVar conflicts 3

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 239

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 239

Predictors split 66

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

All CDC42BPB variants

Pathogenic 7

Pathogenic/Likely pathogenic 3

  • c.2726+1G>A Multiple submitters Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Arg122Ter Multiple submitters Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Arg867Cys Multiple submitters CDC42BPB-related disorder ⚠

Likely pathogenic 33

  • p.Ala177Val Multiple submitters Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Arg876Pro Multiple submitters CDC42BPB-related neurodevelopmental syndrome ⚠
  • p.Asp175Tyr Multiple submitters CDC42BPB-related neurodevelopmental syndrome
  • p.Glu1509fs Multiple submitters Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Glu920fs Multiple submitters Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Ser1530Ter Multiple submitters Chilton-Okur-Chung neurodevelopmental syndrome
  • c.1141-1G>A Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • c.2346+2T>C Single submitter
  • c.3067-2A>G Single submitter
  • c.3172+1G>C Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • c.3811+1G>A Single submitter
  • c.690+2T>C Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Ala1314fs Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Arg1299Gln Single submitter CDC42BPB-related neurodevelopmental syndrome ⚠
  • p.Arg1350Pro Single submitter CDC42BPB-related neurodevelopmental syndrome
  • p.Arg876Trp Single submitter CDC42BPB-related neurodevelopmental syndrome
  • p.Asn130fs Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Asp513Asn Single submitter ⚠
  • p.Gln420Ter Single submitter
  • p.Glu486fs Single submitter
  • p.Glu544fs Single submitter CDC42BPB-related neurodevelopmental syndrome
  • p.Ile293Met Single submitter CDC42BPB-related neurodevelopmental syndrome
  • p.Ile418fs Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Leu13fs Single submitter CDC42BPB-related neurodevelopmental syndrome
  • p.Leu871Pro Single submitter CDC42BPB-related neurodevelopmental syndrome
  • p.Leu877Pro Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Leu911Pro Single submitter CDC42BPB-related disorder
  • p.Met1Thr Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Phe1556fs Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Pro1238Leu Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Pro245Leu Single submitter Chilton-Okur-Chung neurodevelopmental syndrome
  • p.Thr906Pro Single submitter Chilton-Okur-Chung neurodevelopmental syndrome ⚠
  • p.Trp1205Ter Single submitter neurodevelopmental disorder

Conflicting classifications of pathogenicity 6

  • p.Ala142Thr Single submitter CDC42BPB-related neurodevelopmental syndrome ⚠
  • p.Arg1051Gln Single submitter Chilton-Okur-Chung neurodevelopmental syndrome ⚠
  • p.Arg1696Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg73Ter Single submitter Chilton-Okur-Chung neurodevelopmental syndrome ⚠
  • p.Arg764Ter Single submitter CDC42BPB-related neurodevelopmental syndrome ⚠
  • p.Asp600Glu Single submitter Inborn genetic diseases ⚠

Benign 13

Benign/Likely benign 2

Likely benign 142

Uncertain significance 353

Showing the top 300 by review status; the full set is in the sitemap.