Sugi Variant

Sugi Variant/TOP6BL

TOP6BL — 26 ClinVar variants

All ClinVar germline TOP6BL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 4 Benign · 10 Likely benign · 10 Uncertain significance

Full TOP6BL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 6

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 lean, ClinVar uncertain 6

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

All TOP6BL variants

Pathogenic 1

  • c.25+1G>C No assertion criteria spermatogenic failure 88

Likely pathogenic 1

  • p.Lys425fs Single submitter hydatidiform mole, recurrent, 4

Benign 4

  • p.Glu450Lys Single submitter
  • p.Ile43Thr No assertion criteria TOP6BL-related disorder
  • p.Leu414= No assertion criteria TOP6BL-related disorder
  • p.Val492= No assertion criteria TOP6BL-related disorder

Likely benign 10

Uncertain significance 10