Sugi Variant

Sugi Variant/CAMSAP1

CAMSAP1 — 270 ClinVar variants

All ClinVar germline CAMSAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 229 flagged for review →

2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 1 Conflicting · 4 Benign · 2 Benign/Likely benign · 30 Likely benign · 227 Uncertain significance

Full CAMSAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 229

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 lean, ClinVar uncertain 168

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 168

Predictors split 61

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

All CAMSAP1 variants

Pathogenic/Likely pathogenic 2

  • p.Gln906fs Multiple submitters CAMSAP1-related neuronal migration disorder
  • p.Ser1398Ter Multiple submitters CAMSAP1-related neuronal migration disorder

Likely pathogenic 4

  • p.Gln1044Ter Single submitter CAMSAP1-related neuronal migration disorder
  • p.Gln1307Ter Single submitter cortical dysplasia, complex, with other brain malformations 12
  • p.Lys611Ter Single submitter CAMSAP1-related neuronal migration disorder
  • p.Thr570fs Single submitter CAMSAP1-related neuronal migration disorder

Conflicting classifications of pathogenicity 1

  • p.Gln880Ter Single submitter CAMSAP1-related neuronal migration disorder

Benign 4

Benign/Likely benign 2

Likely benign 30

Uncertain significance 227