Sugi Variant

Sugi Variant/BSN

BSN — 788 ClinVar variants

All ClinVar germline BSN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 590 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 16 Benign · 3 Benign/Likely benign · 69 Likely benign · 693 Uncertain significance

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

⚑ Evidence disagreements 590

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 561

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 561

Predictors split 28

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

All BSN variants

Pathogenic 3

  • p.Ala1112fs Single submitter BSN-associated seizure disorder
  • p.Gln875Ter Single submitter BSN-associated epilepsy
  • p.Pro1963fs Single submitter BSN-associated seizure disorder

Likely pathogenic 3

Conflicting classifications of pathogenicity 1

  • p.Arg1335Ter Single submitter BSN-associated neurodevelopmental disorder ⚠

Benign 16

Benign/Likely benign 3

Likely benign 69

Uncertain significance 693

Showing the top 300 by review status; the full set is in the sitemap.