Sugi Variant

Sugi Variant/FIBP

FIBP — 93 ClinVar variants

All ClinVar germline FIBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 4 Benign · 4 Benign/Likely benign · 15 Likely benign · 65 Uncertain significance

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

⚑ Evidence disagreements 55

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 lean, ClinVar uncertain 44

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

Predictors split 11

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

All FIBP variants

Pathogenic/Likely pathogenic 1

  • p.Gln218Ter No assertion criteria learning disability

Likely pathogenic 4

  • p.Gly187fs Single submitter tall stature-intellectual disability-renal anomalies syndrome
  • p.His250fs Single submitter tall stature-intellectual disability-renal anomalies syndrome
  • p.His59delinsLeuAsn Single submitter tall stature-intellectual disability-renal anomalies syndrome
  • c.513-1G>C No assertion criteria FIBP-related disorder

Benign 4

Benign/Likely benign 4

Likely benign 15

Uncertain significance 65