Sugi Variant

Sugi Variant/TNFAIP3

TNFAIP3 — 653 ClinVar variants

All ClinVar germline TNFAIP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 329 flagged for review →

58 Pathogenic · 4 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 24 Conflicting · 12 Benign · 14 Benign/Likely benign · 190 Likely benign · 329 Uncertain significance

Full TNFAIP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 329

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 2

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

Predictors agree, ClinVar conflicts 20

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

Predictors lean, ClinVar uncertain 258

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 258

Predictors split 49

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

All TNFAIP3 variants

Pathogenic 58

Pathogenic/Likely pathogenic 4

  • p.Glu366Ter Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1
  • p.Glu630Ter Multiple submitters TNFAIP3-related disorder
  • p.Gly493fs Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1
  • p.Trp317Ter Multiple submitters autoinflammatory syndrome, familial, Behcet-like

Likely pathogenic 22

  • p.Asp169fs Multiple submitters TNFAIP3-related disorder
  • c.1906+1del Single submitter
  • c.1906+1G>A Single submitter
  • c.1906+1G>T Single submitter autoinflammatory syndrome, familial, Behcet-like 1
  • c.1907-2A>C Single submitter
  • c.1907-2A>G Single submitter
  • c.487-2A>G Single submitter
  • p.Arg581fs Single submitter TNFAIP3-related disorder
  • p.Asn414fs Single submitter autoinflammatory syndrome, familial, Behcet-like 1
  • p.Gln401Ter Single submitter
  • p.Gln55Ter Single submitter
  • p.Gln59fs Single submitter
  • p.Gln695fs Single submitter
  • p.Gln8Ter Single submitter autoinflammatory syndrome, familial, Behcet-like
  • p.Glu78fs Single submitter TNFAIP3-related disorder
  • p.Gly599fs Single submitter autoinflammatory syndrome, familial, Behcet-like 1
  • p.His368fs Single submitter TNFAIP3-related disorder
  • p.Ile679fs Single submitter TNFAIP3-related disorder
  • p.Thr118fs Single submitter autoinflammatory syndrome, familial, Behcet-like 1
  • p.Trp142Ter Single submitter autoinflammatory syndrome, familial, Behcet-like 1
  • p.Tyr246Ter Single submitter autoinflammatory syndrome, familial, Behcet-like 1
  • p.Tyr345Ter Single submitter autoinflammatory syndrome, familial, Behcet-like

Conflicting classifications of pathogenicity 24

Benign 12

Benign/Likely benign 14

  • c.295+11T>C Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1
  • c.295+8T>C Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1
  • c.486+15C>T Multiple submitters
  • p.Ala434Val Multiple submitters
  • p.Ala94= Multiple submitters
  • p.Asn102Ser Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1 ⚠
  • p.Leu570= Multiple submitters autoinflammatory syndrome, familial, Behcet-like
  • p.Leu725= Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1
  • p.Phe127Cys Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1
  • p.Pro576= Multiple submitters
  • p.Pro765= Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1
  • p.Ser466Arg Multiple submitters ⚠
  • p.Thr108Ala Multiple submitters autoinflammatory syndrome, familial, Behcet-like 1
  • p.Thr42Ser Multiple submitters Inborn genetic diseases

Likely benign 190

Uncertain significance 329

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