Sugi Variant

Sugi Variant/NFKB1

NFKB1 — 927 ClinVar variants

All ClinVar germline NFKB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 365 flagged for review →

85 Pathogenic · 8 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 17 Conflicting · 42 Benign · 26 Benign/Likely benign · 291 Likely benign · 403 Uncertain significance

Full NFKB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 365

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.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 292

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 292

Predictors split 59

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

All NFKB1 variants

Pathogenic 85

Pathogenic/Likely pathogenic 8

  • c.159+1G>A Multiple submitters immunodeficiency, common variable, 12
  • c.407+1G>A Multiple submitters immunodeficiency, common variable, 12
  • c.407+2T>G Multiple submitters immunodeficiency, common variable, 12
  • p.Arg284Ter Multiple submitters Inherited Immunodeficiency Diseases
  • p.Glu359Ter Multiple submitters immunodeficiency, common variable, 12
  • p.Gly881fs Multiple submitters
  • p.Lys278fs Multiple submitters NFKB1-related disorder
  • p.Ser302fs Multiple submitters Inherited Immunodeficiency Diseases

Likely pathogenic 55

Conflicting classifications of pathogenicity 17

Benign 42

Benign/Likely benign 26

Likely benign 291

Uncertain significance 403

Showing the top 300 by review status; the full set is in the sitemap.