Sugi Variant

Sugi Variant/CELSR2

CELSR2 — 779 ClinVar variants

All ClinVar germline CELSR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 358 flagged for review →

2 Likely pathogenic · 9 Conflicting · 69 Benign · 4 Benign/Likely benign · 162 Likely benign · 533 Uncertain significance

Full CELSR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 358

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 6

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

Predictors lean, ClinVar uncertain 319

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 319

Predictors split 33

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

All CELSR2 variants

Likely pathogenic 2

  • p.Pro1277Leu Single submitter intellectual disability
  • p.Asn953Ser No assertion criteria esophageal atresia/tracheoesophageal fistula

Conflicting classifications of pathogenicity 9

Benign 69

Benign/Likely benign 4

Likely benign 162

Uncertain significance 533

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