Sugi Variant

Sugi Variant/NOD2

NOD2 — 1208 ClinVar variants

All ClinVar germline NOD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 621 flagged for review →

13 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 136 Conflicting · 26 Benign · 43 Benign/Likely benign · 311 Likely benign · 673 Uncertain significance

Full NOD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 621

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 9

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

Predictors agree, ClinVar conflicts 69

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

Predictors lean, ClinVar uncertain 436

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 436

Predictors split 107

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

All NOD2 variants

Pathogenic 13

Pathogenic/Likely pathogenic 2

Likely pathogenic 4

Conflicting classifications of pathogenicity 136

Benign 26

Benign/Likely benign 43

  • c.2381+10A>C Multiple submitters autoinflammatory syndrome
  • c.2466-11G>T Multiple submitters Blau syndrome
  • c.2550-16_2550-15del Multiple submitters Blau syndrome
  • c.2886-16G>C Multiple submitters Regional enteritis
  • c.460-3T>C Multiple submitters autoinflammatory syndrome
  • c.565+15T>C Multiple submitters Blau syndrome
  • p.Ala113Thr Multiple submitters autoinflammatory syndrome
  • p.Ala570= Multiple submitters Regional enteritis
  • p.Ala584= Multiple submitters autoinflammatory syndrome
  • p.Ala698Gly Multiple submitters inflammatory bowel disease 1
  • p.Arg364His Multiple submitters Blau syndrome
  • p.Arg432= Multiple submitters inflammatory bowel disease 1
  • p.Arg444Cys Multiple submitters autoinflammatory syndrome
  • p.Arg560= Multiple submitters Blau syndrome
  • p.Arg657Trp Multiple submitters autoinflammatory syndrome
  • p.Arg681His Multiple submitters inflammatory bowel disease 1
  • p.Arg686His Multiple submitters Blau syndrome
  • p.Arg763Gln Multiple submitters Regional enteritis
  • p.Asp797Asn Multiple submitters Blau syndrome
  • p.Asp830= Multiple submitters Regional enteritis
  • p.His325Arg Multiple submitters autoinflammatory syndrome
  • p.His453= Multiple submitters Blau syndrome
  • p.Leu458= Multiple submitters Regional enteritis
  • p.Met836Val Multiple submitters Blau syndrome
  • p.Phe134= Multiple submitters autoinflammatory syndrome
  • p.Phe26= Multiple submitters Blau syndrome
  • p.Pro241Ser Multiple submitters autoinflammatory syndrome
  • p.Ser151= Multiple submitters Blau syndrome
  • p.Ser245= Multiple submitters autoinflammatory syndrome
  • p.Ser625= Multiple submitters autoinflammatory syndrome
  • p.Thr162= Multiple submitters autoinflammatory syndrome
  • p.Thr569= Multiple submitters Blau syndrome
  • p.Tyr720= Multiple submitters Regional enteritis
  • p.Val396= Multiple submitters autoinflammatory syndrome
  • p.Val766Met Multiple submitters Blau syndrome
  • p.Val775= Multiple submitters Blau syndrome
  • p.Val928Ile Multiple submitters Blau syndrome
  • c.-8-2258C>T Single submitter inflammatory bowel disease 1
  • c.-8-2302T>C Single submitter Blau syndrome
  • c.*1023C>T Single submitter inflammatory bowel disease 1
  • c.*620G>A Single submitter inflammatory bowel disease 1
  • c.*877C>A Single submitter inflammatory bowel disease 1
  • c.*990T>C Single submitter inflammatory bowel disease 1

Likely benign 311

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

Uncertain significance 673

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