Sugi Variant

Sugi Variant/OSBPL2

OSBPL2 — 304 ClinVar variants

All ClinVar germline OSBPL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 7 Conflicting · 48 Benign · 14 Benign/Likely benign · 120 Likely benign · 110 Uncertain significance

Full OSBPL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

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 6

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

Predictors lean, ClinVar uncertain 75

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

Predictors split 12

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

All OSBPL2 variants

Pathogenic 4

  • p.Tyr160fs Single submitter
  • p.Arg50fs No assertion criteria autosomal dominant nonsyndromic hearing loss 67
  • p.Gln53fs No assertion criteria autosomal dominant nonsyndromic hearing loss 67
  • p.His60fs No assertion criteria autosomal dominant nonsyndromic hearing loss 67

Likely pathogenic 1

  • p.Glu54fs Single submitter autosomal dominant nonsyndromic hearing loss 67

Conflicting classifications of pathogenicity 7

Benign 48

Benign/Likely benign 14

Likely benign 120

Uncertain significance 110