Sugi Variant

Sugi Variant/IL21

IL21 — 121 ClinVar variants

All ClinVar germline IL21 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →

1 Pathogenic · 2 Conflicting · 6 Benign · 2 Benign/Likely benign · 43 Likely benign · 67 Uncertain significance

Full IL21 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 61

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 55

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

Predictors split 4

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

All IL21 variants

Pathogenic 1

  • p.Leu49Pro No assertion criteria IL21-related infantile inflammatory bowel disease

Conflicting classifications of pathogenicity 2

Benign 6

Benign/Likely benign 2

  • p.Cys78= Multiple submitters IL21-related infantile inflammatory bowel disease
  • p.His157= Multiple submitters

Likely benign 43

Uncertain significance 67