Sugi Variant

Sugi Variant/CACNB2

CACNB2 — 1089 ClinVar variants

All ClinVar germline CACNB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 483 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 45 Conflicting · 100 Benign · 33 Benign/Likely benign · 381 Likely benign · 528 Uncertain significance

Full CACNB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 483

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 23

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

Predictors lean, ClinVar uncertain 272

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 272

Predictors split 188

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 188

All CACNB2 variants

Pathogenic 1

  • p.Thr11Ile No assertion criteria Brugada syndrome 4

Likely pathogenic 1

Conflicting classifications of pathogenicity 45

Benign 100

Benign/Likely benign 33

Likely benign 381

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

Uncertain significance 528

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