Sugi Variant

Sugi Variant/CRYBB3

CRYBB3 — 128 ClinVar variants

All ClinVar germline CRYBB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →

3 Pathogenic · 5 Likely pathogenic · 10 Conflicting · 13 Benign · 5 Benign/Likely benign · 13 Likely benign · 79 Uncertain significance

Full CRYBB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 75

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 6

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

Predictors lean, ClinVar uncertain 25

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

Predictors split 44

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

All CRYBB3 variants

Pathogenic 3

Likely pathogenic 5

  • c.194+1G>A Single submitter cataract 22 multiple types
  • c.470+1G>A Single submitter cataract 22 multiple types
  • p.Gly156Arg Single submitter cataract 22 multiple types
  • p.Ile131Arg Single submitter cataract 22 multiple types
  • p.Ter212Arg No assertion criteria Developmental cataract

Conflicting classifications of pathogenicity 10

Benign 13

Benign/Likely benign 5

  • c.471-6C>T Multiple submitters cataract 22 multiple types
  • p.Ala2= Multiple submitters cataract 22 multiple types
  • p.Arg105Gln Multiple submitters cataract 22 multiple types ⚠
  • p.Pro189= Multiple submitters cataract 22 multiple types
  • p.Val159Ile Multiple submitters cataract 22 multiple types ⚠

Likely benign 13

Uncertain significance 79