Sugi Variant

Sugi Variant/IRAK4

IRAK4 — 376 ClinVar variants

All ClinVar germline IRAK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

24 Pathogenic · 4 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 8 Conflicting · 42 Benign · 4 Benign/Likely benign · 104 Likely benign · 183 Uncertain significance

Full IRAK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 4

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

Predictors lean, ClinVar uncertain 104

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

Predictors split 24

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

All IRAK4 variants

Pathogenic 24

Pathogenic/Likely pathogenic 4

  • p.Arg183Ter Multiple submitters immunodeficiency 67
  • p.Gly350fs Multiple submitters IRAK4-related disorders
  • p.Leu112fs Multiple submitters immunodeficiency 67
  • p.Phe180fs Multiple submitters immunodeficiency 67

Likely pathogenic 7

  • c.161+1G>A Single submitter congenital dyserythropoietic anemia
  • c.490+1G>A Single submitter immunodeficiency 67
  • c.717-1G>T Single submitter immunodeficiency 67
  • c.717-2A>C Single submitter immunodeficiency 67
  • c.-9-1G>A Single submitter immunodeficiency 67
  • p.Asp257fs Single submitter IRAK4-related disorders
  • p.Thr208fs Single submitter IRAK4-related disorders

Conflicting classifications of pathogenicity 8

Benign 42

Benign/Likely benign 4

  • c.1126-18T>A Multiple submitters immunodeficiency 67
  • p.Ala428Thr Multiple submitters immunodeficiency 67
  • p.Ile39= Multiple submitters immunodeficiency 67
  • p.Pro106= Multiple submitters immunodeficiency 67

Likely benign 104

Uncertain significance 183