Sugi Variant

Sugi Variant/EFNB1

EFNB1 — 193 ClinVar variants

All ClinVar germline EFNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

41 Pathogenic · 4 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 5 Conflicting · 8 Benign · 1 Benign/Likely benign · 28 Likely benign · 86 Uncertain significance

Full EFNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 51

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

Predictors split 31

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

All EFNB1 variants

Pathogenic 41

Pathogenic/Likely pathogenic 4

  • c.499+1G>A Multiple submitters craniofrontonasal syndrome
  • p.Pro34fs Multiple submitters craniofrontonasal syndrome
  • p.Pro54Leu Multiple submitters craniofrontonasal syndrome
  • p.Trp12Ter Multiple submitters EFNB1-related disorder

Likely pathogenic 20

Conflicting classifications of pathogenicity 5

Benign 8

Benign/Likely benign 1

Likely benign 28

Uncertain significance 86