Sugi Variant

Sugi Variant/CRYBA1

CRYBA1 — 89 ClinVar variants

All ClinVar germline CRYBA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 3 Conflicting · 12 Benign · 5 Benign/Likely benign · 12 Likely benign · 41 Uncertain significance

Full CRYBA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 36

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 1

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 13

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

All CRYBA1 variants

Pathogenic 4

  • c.215+1G>C Single submitter cataract 10 multiple types
  • p.Arg114Cys Single submitter cataract 10 multiple types ⚠
  • p.Tyr93Ter Single submitter cataract 10 multiple types
  • p.Gln203fs No assertion criteria cataract 10 multiple types

Pathogenic/Likely pathogenic 3

  • c.215+1G>A Multiple submitters Inborn genetic diseases
  • c.215+1G>T Multiple submitters cataract 10 multiple types
  • p.Gly91del Multiple submitters cataract 10 multiple types

Likely pathogenic 9

Conflicting classifications of pathogenicity 3

Benign 12

Benign/Likely benign 5

  • c.97-8C>T Multiple submitters cataract 10 multiple types
  • p.Arg58His Multiple submitters cataract 10 multiple types
  • p.Gly159Ser Multiple submitters cataract 10 multiple types
  • p.Pro25Leu Multiple submitters cataract 10 multiple types
  • p.Pro30Leu Multiple submitters cataract 10 multiple types ⚠

Likely benign 12

Uncertain significance 41