Sugi Variant

Sugi Variant/CRYGD

CRYGD — 87 ClinVar variants

All ClinVar germline CRYGD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →

6 Pathogenic · 3 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 4 Conflicting · 20 Benign · 3 Benign/Likely benign · 8 Likely benign · 37 Uncertain significance

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

⚑ Evidence disagreements 39

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 2

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

Predictors lean, ClinVar uncertain 22

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

Predictors split 10

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

All CRYGD variants

Pathogenic 6

Pathogenic/Likely pathogenic 3

Likely pathogenic 6

Conflicting classifications of pathogenicity 4

Benign 20

Benign/Likely benign 3

  • c.252+10T>A Multiple submitters cataract 4 multiple types
  • p.Ser21= Multiple submitters cataract 4 multiple types
  • p.Tyr63= Multiple submitters cataract 4 multiple types

Likely benign 8

Uncertain significance 37