Sugi Variant

Sugi Variant/NBEAL2

NBEAL2 — 994 ClinVar variants

All ClinVar germline NBEAL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 411 flagged for review →

33 Pathogenic · 2 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 57 Conflicting · 27 Benign · 40 Benign/Likely benign · 166 Likely benign · 627 Uncertain significance

Full NBEAL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 411

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 18

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

Predictors lean, ClinVar uncertain 373

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 373

Predictors split 20

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

All NBEAL2 variants

Pathogenic 33

Pathogenic/Likely pathogenic 2

  • c.4485-1G>A Multiple submitters gray platelet syndrome
  • c.4485-1G>T Multiple submitters gray platelet syndrome

Likely pathogenic 42

Conflicting classifications of pathogenicity 57

Benign 27

Benign/Likely benign 40

Likely benign 166

Uncertain significance 627

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