Sugi Variant

Sugi Variant/CSMD3

CSMD3 — 516 ClinVar variants

All ClinVar germline CSMD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 261 flagged for review →

1 Conflicting · 39 Benign · 1 Benign/Likely benign · 44 Likely benign · 431 Uncertain significance

Full CSMD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 261

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 1

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

Predictors lean, ClinVar uncertain 227

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 227

Predictors split 33

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

All CSMD3 variants

Conflicting classifications of pathogenicity 1

  • p.Val1855Ala Single submitter pachygyria-intellectual disability-epilepsy syndrome ⚠

Benign 39

Benign/Likely benign 1

Likely benign 44

Uncertain significance 431

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