COLEC11 — 150 ClinVar variants

All ClinVar germline COLEC11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 7 Benign · 7 Benign/Likely benign · 69 Likely benign · 59 Uncertain significance

Full COLEC11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 51

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 lean, ClinVar uncertain 37

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

All COLEC11 variants

Pathogenic 5

Likely pathogenic 1

  • p.Gly68fs Single submitter COLEC11-related disorder

Conflicting classifications of pathogenicity 2

Benign 7

Benign/Likely benign 7

Likely benign 69

Uncertain significance 59