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Gene entry

MEFV

MEFV innate immunity regulator, pyrin

Chromosome
16
Cytoband
16p13.3
Variants (rsID)
29

MEFV is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.3). Its official name is “MEFV innate immunity regulator, pyrin”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

23 reference-table entries with clinical significance.

  • rs224213Benignsingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome
  • rs224225Benignsingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome
  • rs104895085Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever
  • rs104895093Conflicting interpretationsDeletionFamilial Mediterranean fever|Autoinflammatory syndrome
  • rs104895097Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Acute febrile neutrophilic dermatosis|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome
  • rs104895198Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Autoinflammatory syndrome
  • rs11466015Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever
  • rs11466018Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Autoinflammatory syndrome
  • rs11466023Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Autoinflammatory syndrome
  • rs11466024Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Autoinflammatory syndrome
  • rs11466026Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|See cases|Autoinflammatory syndrome
  • rs11466045Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome
  • rs28940578Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome
  • rs28940580Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome
  • rs3743930Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|See cases|Autoinflammatory syndrome
  • rs387907570Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever
  • rs61732874Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Acute febrile neutrophilic dermatosis|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome
  • rs61754767Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Autoinflammatory syndrome
  • rs75977701Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever|Autoinflammatory syndrome
  • rs77086855Conflicting interpretationssingle nucleotide variantFamilial Mediterranean fever
  • rs28940579Pathogenicsingle nucleotide variantFamilial Mediterranean fever|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Inborn genetic diseases|Familial Mediterranean fever, autosomal dominant|Acute febrile neutrophilic dermatosis|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome
  • rs61752717Pathogenicsingle nucleotide variantFamilial Mediterranean fever|9 conditions|8 conditions|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever, autosomal dominant|Acute febrile neutrophilic dermatosis|Acute febrile neutrophilic dermatosis|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome
  • rs104895076Uncertain significancesingle nucleotide variantFamilial Mediterranean fever|Autoinflammatory 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.