Sugi Variant

Sugi Variant/CC2D2A

CC2D2A — 2359 ClinVar variants

All ClinVar germline CC2D2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 780 flagged for review →

151 Pathogenic · 64 Pathogenic/Likely pathogenic · 117 Likely pathogenic · 206 Conflicting · 83 Benign · 15 Benign/Likely benign · 916 Likely benign · 807 Uncertain significance

Full CC2D2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 780

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 5

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

Predictors agree, ClinVar conflicts 87

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

Predictors lean, ClinVar uncertain 514

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 514

Predictors split 174

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 174

All CC2D2A variants

Pathogenic 151

Pathogenic/Likely pathogenic 64

Likely pathogenic 117

Conflicting classifications of pathogenicity 206

Benign 83

Benign/Likely benign 15

Likely benign 916

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

Uncertain significance 807

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