CELSR3 — 509 ClinVar variants

All ClinVar germline CELSR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 299 flagged for review →

13 Likely pathogenic · 4 Conflicting · 23 Benign · 1 Benign/Likely benign · 53 Likely benign · 415 Uncertain significance

Full CELSR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 299

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 2

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

Predictors lean, ClinVar uncertain 270

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 270

All CELSR3 variants

Likely pathogenic 13

Conflicting classifications of pathogenicity 4

Benign 23

Benign/Likely benign 1

Likely benign 53

Uncertain significance 415

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