Sugi Variant

Sugi Variant/CDHR1

CDHR1 — 975 ClinVar variants

All ClinVar germline CDHR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 411 flagged for review →

61 Pathogenic · 7 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 56 Conflicting · 34 Benign · 9 Benign/Likely benign · 299 Likely benign · 479 Uncertain significance

Full CDHR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 411

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 23

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

Predictors lean, ClinVar uncertain 213

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 213

Predictors split 175

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 175

All CDHR1 variants

Pathogenic 61

Pathogenic/Likely pathogenic 7

  • c.56-1G>A Multiple submitters cone-rod dystrophy 15
  • c.863-1G>A Multiple submitters cone-rod dystrophy 15
  • p.Asp238fs Multiple submitters cone-rod dystrophy 15
  • p.His319fs Multiple submitters inherited retinal dystrophy
  • p.Ile841fs Multiple submitters inherited retinal dystrophy
  • p.Lys582Ter Multiple submitters cone-rod dystrophy
  • p.Thr448fs Multiple submitters CDHR1-related disorder

Likely pathogenic 30

Conflicting classifications of pathogenicity 56

Benign 34

Benign/Likely benign 9

Likely benign 299

Uncertain significance 479

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