Sugi Variant

Sugi Variant/NFE2L2

NFE2L2 — 396 ClinVar variants

All ClinVar germline NFE2L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 14 Conflicting · 28 Benign · 11 Benign/Likely benign · 113 Likely benign · 225 Uncertain significance

Full NFE2L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 220

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 182

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 182

Predictors split 25

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

All NFE2L2 variants

Pathogenic 3

  • p.Thr80Lys Single submitter immunodeficiency, developmental delay, and hypohomocysteinemia
  • p.Glu79Lys No assertion criteria immunodeficiency, developmental delay, and hypohomocysteinemia ⚠
  • p.Gly81Ser No assertion criteria immunodeficiency, developmental delay, and hypohomocysteinemia

Pathogenic/Likely pathogenic 1

  • p.Gly31Arg No assertion criteria immunodeficiency, developmental delay, and hypohomocysteinemia

Likely pathogenic 1

Conflicting classifications of pathogenicity 14

Benign 28

Benign/Likely benign 11

Likely benign 113

Uncertain significance 225