Sugi Variant

Sugi Variant/RBPJ

RBPJ — 195 ClinVar variants

All ClinVar germline RBPJ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 5 Conflicting · 34 Benign · 8 Benign/Likely benign · 68 Likely benign · 76 Uncertain significance

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

⚑ Evidence disagreements 58

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 4

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

Predictors lean, ClinVar uncertain 39

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

Predictors split 15

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

All RBPJ variants

Pathogenic 1

  • p.Lys156Glu No assertion criteria Adams-Oliver syndrome 3

Likely pathogenic 3

  • p.Arg52Thr Single submitter Adams-Oliver syndrome 3
  • p.Phe53Val Single submitter Adams-Oliver syndrome 3
  • p.Ser319Arg Single submitter Adams-Oliver syndrome 3

Conflicting classifications of pathogenicity 5

Benign 34

Benign/Likely benign 8

Likely benign 68

Uncertain significance 76