Sugi Variant

Sugi Variant/CACNA1B

CACNA1B — 1920 ClinVar variants

All ClinVar germline CACNA1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 633 flagged for review →

36 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 44 Conflicting · 104 Benign · 56 Benign/Likely benign · 963 Likely benign · 697 Uncertain significance

Full CACNA1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 633

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 27

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

Predicted LoF vs a conflicting call 5

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 463

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 463

Predictors split 138

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

All CACNA1B variants

Pathogenic 36

Pathogenic/Likely pathogenic 2

  • p.Arg2102Ter Multiple submitters CACNA1B-related disorder
  • p.Gln1901fs Multiple submitters neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements

Likely pathogenic 18

Conflicting classifications of pathogenicity 44

Benign 104

Benign/Likely benign 56

Likely benign 963

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

Uncertain significance 697

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