Sugi Variant

Sugi Variant/BCL11A

BCL11A — 346 ClinVar variants

All ClinVar germline BCL11A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

43 Pathogenic · 6 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 5 Conflicting · 11 Benign · 7 Benign/Likely benign · 44 Likely benign · 186 Uncertain significance

Full BCL11A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 166

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 vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 110

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

Predictors split 49

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

All BCL11A variants

Pathogenic 43

Pathogenic/Likely pathogenic 6

  • c.488-1G>A Multiple submitters Dias-Logan syndrome
  • p.Gln124Ter Multiple submitters Dias-Logan syndrome
  • p.Glu473Ter Multiple submitters Dias-Logan syndrome
  • p.Met1Val Multiple submitters Dias-Logan syndrome
  • p.Val534fs No assertion criteria isolated cerebellar hypoplasia/agenesis
  • p.Val99fs No assertion criteria isolated cerebellar hypoplasia/agenesis

Likely pathogenic 44

Conflicting classifications of pathogenicity 5

Benign 11

Benign/Likely benign 7

Likely benign 44

Uncertain significance 186