Sugi Variant

Sugi Variant/BLVRA

BLVRA — 83 ClinVar variants

All ClinVar germline BLVRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 13 Benign · 1 Benign/Likely benign · 15 Likely benign · 47 Uncertain significance

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

⚑ Evidence disagreements 46

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 2

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

Predictors lean, ClinVar uncertain 29

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

Predictors split 15

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

All BLVRA variants

Pathogenic 2

  • p.Ser44Ter Single submitter hyperbiliverdinemia
  • p.Arg18Ter No assertion criteria hyperbiliverdinemia

Likely pathogenic 2

Conflicting classifications of pathogenicity 3

Benign 13

Benign/Likely benign 1

Likely benign 15

Uncertain significance 47