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Gene entry

NOD2

nucleotide binding oligomerization domain containing 2

Chromosome
16
Cytoband
16q12.1
Variants (rsID)
30

NOD2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q12.1). Its official name is “nucleotide binding oligomerization domain containing 2”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs2066842Benignsingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs3135499Benignsingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Leprosy, susceptibility to, 1
  • rs5743272Benignsingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs104895421Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs104895425Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs104895427Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Susceptibility to Yao syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1
  • rs104895431Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs104895438Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Psoriatic arthritis, susceptibility to|Inflammatory bowel disease 1|Blau syndrome|Susceptibility to Yao syndrome|Inflammatory bowel disease 1
  • rs104895452Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs104895467Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs104895486Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs117836686Conflicting interpretationssingle nucleotide variantInflammatory bowel disease 1|Blau syndrome
  • rs2066844Conflicting interpretationssingle nucleotide variantBlau syndrome|Susceptibility to Yao syndrome|Inflammatory bowel disease 1|Blau syndrome|Crohn disease|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs2066845Conflicting interpretationssingle nucleotide variantBlau syndrome|Susceptibility to Yao syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Psoriatic arthritis, susceptibility to|Inflammatory bowel disease 1|Blau syndrome|Susceptibility to Yao syndrome|Autoinflammatory syndrome
  • rs5743277Conflicting interpretationssingle nucleotide variantBlau syndrome|Blau syndrome|Inflammatory bowel disease 1|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs5743289Conflicting interpretationssingle nucleotide variantSusceptibility to Yao syndrome|Blau syndrome|Autoinflammatory syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1
  • rs61747625Conflicting interpretationssingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1|Psoriatic arthritis, susceptibility to|Susceptibility to Yao syndrome|Inflammatory bowel disease 1|Blau syndrome|Autoinflammatory syndrome
  • rs61755182Conflicting interpretationssingle nucleotide variantInflammatory bowel disease 1|Blau syndrome|Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory syndrome
  • rs104895461Pathogenicsingle nucleotide variantBlau syndrome|Inflammatory bowel disease 1|Blau syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.