Sugi Variant

Sugi Variant/CNGA1

CNGA1 — 479 ClinVar variants

All ClinVar germline CNGA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →

37 Pathogenic · 16 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 18 Conflicting · 19 Benign · 1 Benign/Likely benign · 128 Likely benign · 243 Uncertain significance

Full CNGA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 173

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 7

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

Predictors lean, ClinVar uncertain 129

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 37

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

All CNGA1 variants

Pathogenic 37

Pathogenic/Likely pathogenic 16

Likely pathogenic 17

Conflicting classifications of pathogenicity 18

Benign 19

Benign/Likely benign 1

  • p.Ala678= Multiple submitters retinitis pigmentosa

Likely benign 128

Uncertain significance 243