Sugi Variant

Sugi Variant/BFSP1

BFSP1 — 263 ClinVar variants

All ClinVar germline BFSP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

5 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 46 Benign · 6 Benign/Likely benign · 63 Likely benign · 137 Uncertain significance

Full BFSP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 1

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 69

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

Predictors split 60

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

All BFSP1 variants

Pathogenic 5

Likely pathogenic 2

Conflicting classifications of pathogenicity 4

Benign 46

Benign/Likely benign 6

Likely benign 63

Uncertain significance 137