Sugi Variant

Sugi Variant/TOP2B

TOP2B — 1133 ClinVar variants

All ClinVar germline TOP2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 464 flagged for review →

3 Pathogenic · 19 Conflicting · 35 Benign · 39 Benign/Likely benign · 478 Likely benign · 559 Uncertain significance

Full TOP2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 464

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 16

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

Predictors lean, ClinVar uncertain 370

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 370

Predictors split 78

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

All TOP2B variants

Pathogenic 3

  • p.Ala490Pro Single submitter TOP2B-related disorder
  • p.Glu593del No assertion criteria B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
  • p.Ser488Leu No assertion criteria B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

Conflicting classifications of pathogenicity 19

Benign 35

Benign/Likely benign 39

Likely benign 478

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

Uncertain significance 559

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