Sugi Variant

Sugi Variant/CRB2

CRB2 — 868 ClinVar variants

All ClinVar germline CRB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 403 flagged for review →

27 Pathogenic · 6 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 53 Conflicting · 60 Benign · 43 Benign/Likely benign · 272 Likely benign · 393 Uncertain significance

Full CRB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 403

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 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 33

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

Predictors lean, ClinVar uncertain 273

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 273

Predictors split 93

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

All CRB2 variants

Pathogenic 27

Pathogenic/Likely pathogenic 6

  • p.Arg1030fs Multiple submitters CRB2-related disorder
  • p.Cys105Ter Multiple submitters ventriculomegaly-cystic kidney disease
  • p.Gly1036fs Multiple submitters focal segmental glomerulosclerosis 9
  • p.Gly1205Ser Multiple submitters focal segmental glomerulosclerosis 9 ⚠
  • p.Thr198fs Multiple submitters focal segmental glomerulosclerosis 9
  • p.Arg628Cys No assertion criteria steroid-resistant nephrotic syndrome ⚠

Likely pathogenic 14

Conflicting classifications of pathogenicity 53

Benign 60

Benign/Likely benign 43

Likely benign 272

Uncertain significance 393

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