Sugi Variant

Sugi Variant/IREB2

IREB2 — 287 ClinVar variants

All ClinVar germline IREB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →

2 Likely pathogenic · 1 Conflicting · 22 Benign · 6 Benign/Likely benign · 107 Likely benign · 149 Uncertain significance

Full IREB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 130

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 1

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

Predictors lean, ClinVar uncertain 101

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

Predictors split 28

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

All IREB2 variants

Likely pathogenic 2

  • p.Arg419Ter Single submitter neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
  • p.Gly357Ter Single submitter neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia

Conflicting classifications of pathogenicity 1

Benign 22

Benign/Likely benign 6

Likely benign 107

Uncertain significance 149