Sugi Variant

Sugi Variant/CC2D1A

CC2D1A — 731 ClinVar variants

All ClinVar germline CC2D1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 249 flagged for review →

25 Pathogenic · 4 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 49 Conflicting · 15 Benign · 22 Benign/Likely benign · 351 Likely benign · 230 Uncertain significance

Full CC2D1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 249

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 agree, ClinVar conflicts 25

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

Predictors lean, ClinVar uncertain 157

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 157

Predictors split 67

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

All CC2D1A variants

Pathogenic 25

Pathogenic/Likely pathogenic 4

  • p.Arg355fs Multiple submitters intellectual disability, autosomal recessive 3
  • p.Glu60fs Multiple submitters intellectual disability, autosomal recessive 3
  • p.Gly898fs Multiple submitters intellectual disability, autosomal recessive 3
  • p.Pro314fs Multiple submitters CC2D1A-related disorder

Likely pathogenic 35

Conflicting classifications of pathogenicity 49

Benign 15

Benign/Likely benign 22

Likely benign 351

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

Uncertain significance 230