Sugi Variant

Sugi Variant/BGN

BGN — 456 ClinVar variants

All ClinVar germline BGN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 231 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 17 Conflicting · 20 Benign · 10 Benign/Likely benign · 141 Likely benign · 249 Uncertain significance

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

⚑ Evidence disagreements 231

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 8

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

Predictors lean, ClinVar uncertain 136

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

Predictors split 85

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

All BGN variants

Pathogenic 2

Pathogenic/Likely pathogenic 1

  • p.Gln75Ter Multiple submitters Meester-Loeys syndrome

Likely pathogenic 16

Conflicting classifications of pathogenicity 17

Benign 20

Benign/Likely benign 10

  • c.677-13C>A Multiple submitters
  • c.910-18C>T Multiple submitters
  • p.Arg138Gln Multiple submitters Cardiovascular phenotype
  • p.Asn37= Multiple submitters Meester-Loeys syndrome
  • p.Glu104Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu269= Multiple submitters Cardiovascular phenotype
  • p.Gly191= Multiple submitters Cardiovascular phenotype
  • p.Gly334= Multiple submitters Cardiovascular phenotype
  • p.Ile188= Multiple submitters Cardiovascular phenotype
  • p.Lys86Arg Multiple submitters X-linked spondyloepimetaphyseal dysplasia

Likely benign 141

Uncertain significance 249