Sugi Variant

Sugi Variant/BAZ2B

BAZ2B — 505 ClinVar variants

All ClinVar germline BAZ2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 379 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 5 Conflicting · 14 Benign · 2 Benign/Likely benign · 91 Likely benign · 375 Uncertain significance

Full BAZ2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 379

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 4

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.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 209

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 209

Predictors split 163

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 163

All BAZ2B variants

Pathogenic 6

Pathogenic/Likely pathogenic 1

  • p.Met1Thr Multiple submitters BAZ2B-related disorder

Likely pathogenic 11

Conflicting classifications of pathogenicity 5

Benign 14

Benign/Likely benign 2

Likely benign 91

Uncertain significance 375

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