Sugi Variant

Sugi Variant/CELSR1

CELSR1 — 951 ClinVar variants

All ClinVar germline CELSR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 426 flagged for review →

6 Pathogenic · 7 Likely pathogenic · 15 Conflicting · 79 Benign · 11 Benign/Likely benign · 174 Likely benign · 659 Uncertain significance

Full CELSR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 426

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 7

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

Predictors lean, ClinVar uncertain 386

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 386

Predictors split 32

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

All CELSR1 variants

Pathogenic 6

Likely pathogenic 7

Conflicting classifications of pathogenicity 15

Benign 79

Benign/Likely benign 11

Likely benign 174

Uncertain significance 659

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