Sugi Variant

Sugi Variant/PIBF1

PIBF1 — 236 ClinVar variants

All ClinVar germline PIBF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 9 Conflicting · 13 Benign · 8 Benign/Likely benign · 51 Likely benign · 133 Uncertain significance

Full PIBF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 126

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 2

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

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 104

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 PIBF1 variants

Pathogenic 7

Pathogenic/Likely pathogenic 2

Likely pathogenic 13

Conflicting classifications of pathogenicity 9

Benign 13

Benign/Likely benign 8

Likely benign 51

Uncertain significance 133