Sugi Variant

Sugi Variant/BBIP1

BBIP1 — 111 ClinVar variants

All ClinVar germline BBIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 2 Benign · 1 Benign/Likely benign · 32 Likely benign · 69 Uncertain significance

Full BBIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 45

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 3

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

Predictors lean, ClinVar uncertain 30

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

Predictors split 12

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

All BBIP1 variants

Pathogenic 1

Likely pathogenic 1

  • p.Leu58Ter Single submitter BBIP1-related disorder

Conflicting classifications of pathogenicity 5

Benign 2

Benign/Likely benign 1

Likely benign 32

Uncertain significance 69