Sugi Variant

Sugi Variant/CEP164

CEP164 — 1541 ClinVar variants

All ClinVar germline CEP164 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 667 flagged for review →

62 Pathogenic · 19 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 43 Conflicting · 50 Benign · 13 Benign/Likely benign · 584 Likely benign · 720 Uncertain significance

Full CEP164 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 667

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 12

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

Predictors lean, ClinVar uncertain 392

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 392

Predictors split 263

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 263

All CEP164 variants

Pathogenic 62

Pathogenic/Likely pathogenic 19

Likely pathogenic 50

Conflicting classifications of pathogenicity 43

Benign 50

Benign/Likely benign 13

Likely benign 584

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

Uncertain significance 720

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