Sugi Variant

Sugi Variant/BICRA

BICRA — 669 ClinVar variants

All ClinVar germline BICRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 423 flagged for review →

25 Pathogenic · 2 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 14 Conflicting · 16 Benign · 6 Benign/Likely benign · 148 Likely benign · 437 Uncertain significance

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

⚑ Evidence disagreements 423

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 12

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

Predictors lean, ClinVar uncertain 329

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 329

Predictors split 80

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

All BICRA variants

Pathogenic 25

Pathogenic/Likely pathogenic 2

  • p.Ala630fs Multiple submitters Coffin-Siris syndrome 12
  • p.Gln290Ter Multiple submitters Coffin-Siris syndrome 12

Likely pathogenic 21

Conflicting classifications of pathogenicity 14

Benign 16

Benign/Likely benign 6

Likely benign 148

Uncertain significance 437

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