Sugi Variant

Sugi Variant/IFNAR1

IFNAR1 — 332 ClinVar variants

All ClinVar germline IFNAR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

13 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 10 Conflicting · 11 Benign · 9 Benign/Likely benign · 128 Likely benign · 152 Uncertain significance

Full IFNAR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 8

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

Predictors lean, ClinVar uncertain 117

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

Predictors split 15

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

All IFNAR1 variants

Pathogenic 13

Pathogenic/Likely pathogenic 1

  • p.Tyr250Ter Multiple submitters immunodeficiency 106, susceptibility to viral infections

Likely pathogenic 8

Conflicting classifications of pathogenicity 10

Benign 11

Benign/Likely benign 9

Likely benign 128

Uncertain significance 152