Sugi Variant

Sugi Variant/OBSL1

OBSL1 — 1440 ClinVar variants

All ClinVar germline OBSL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 683 flagged for review →

33 Pathogenic · 3 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 95 Conflicting · 70 Benign · 42 Benign/Likely benign · 392 Likely benign · 758 Uncertain significance

Full OBSL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 683

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 32

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

Predictors lean, ClinVar uncertain 483

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 483

Predictors split 168

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 168

All OBSL1 variants

Pathogenic 33

Pathogenic/Likely pathogenic 3

  • p.Ala143fs Multiple submitters 3M syndrome 2
  • p.Arg87fs Multiple submitters OBSL1-related disorder
  • p.Cys13fs Multiple submitters OBSL1-related disorder

Likely pathogenic 47

Conflicting classifications of pathogenicity 95

Benign 70

Benign/Likely benign 42

Likely benign 392

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

Uncertain significance 758

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