Sugi Variant

Sugi Variant/CSMD1

CSMD1 — 979 ClinVar variants

All ClinVar germline CSMD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 505 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 72 Benign · 8 Benign/Likely benign · 113 Likely benign · 780 Uncertain significance

Full CSMD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 505

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 454

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 454

Predictors split 46

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

All CSMD1 variants

Pathogenic 1

  • p.Ser319Ter Single submitter CSMD1-associated neurodevelopmental disorder

Likely pathogenic 1

Conflicting classifications of pathogenicity 4

Benign 72

Benign/Likely benign 8

Likely benign 113

Uncertain significance 780

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