Sugi Variant

Sugi Variant/C2CD3

C2CD3 — 1178 ClinVar variants

All ClinVar germline C2CD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 535 flagged for review →

55 Pathogenic · 7 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 48 Conflicting · 141 Benign · 13 Benign/Likely benign · 377 Likely benign · 515 Uncertain significance

Full C2CD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 535

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 33

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

Predictors lean, ClinVar uncertain 321

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 321

Predictors split 180

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 180

All C2CD3 variants

Pathogenic 55

Pathogenic/Likely pathogenic 7

  • c.3911-2A>T Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Ala913fs Multiple submitters orofaciodigital syndrome type 14
  • p.Arg621Ter Multiple submitters orofaciodigital syndrome type 14
  • p.Arg768Ter Multiple submitters
  • p.His904fs Multiple submitters orofaciodigital syndrome type 14
  • p.Ser990fs Multiple submitters orofaciodigital syndrome type 14
  • p.Val332fs Multiple submitters orofaciodigital syndrome type 14

Likely pathogenic 22

Conflicting classifications of pathogenicity 48

Benign 141

Benign/Likely benign 13

Likely benign 377

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

Uncertain significance 515

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