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Gene entry

COL11A2

collagen type XI alpha 2 chain

Chromosome
6
Cytoband
6p21.32
Variants (rsID)
44

COL11A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p21.32). Its official name is “collagen type XI alpha 2 chain”. The reference table lists 44 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs1799911Benignsingle nucleotide variantFibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Stickler Syndrome, Dominant|Autosomal dominant nonsyndromic hearing loss 13|Autosomal recessive nonsyndromic hearing loss 53
  • rs2229784Benignsingle nucleotide variantOtospondylomegaepiphyseal dysplasia, autosomal dominant|Stickler Syndrome, Dominant|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal recessive
  • rs2229792Benignsingle nucleotide variantStickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Connective tissue disorder
  • rs2855430Benignsingle nucleotide variantStickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal recessive
  • rs2855437Benignsingle nucleotide variantStickler Syndrome, Dominant|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Autosomal recessive nonsyndromic hearing loss 53|Autosomal dominant nonsyndromic hearing loss 13
  • rs9277932Benignsingle nucleotide variantOtospondylomegaepiphyseal dysplasia, autosomal dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Autosomal dominant nonsyndromic hearing loss 13|Autosomal recessive nonsyndromic hearing loss 53|Fibrochondrogenesis 2
  • rs970901Benignsingle nucleotide variantStickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Autosomal dominant nonsyndromic hearing loss 13|Autosomal recessive nonsyndromic hearing loss 53
  • rs121912952Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 53|Hearing impairment
  • rs141430703Conflicting interpretationssingle nucleotide variantOtospondylomegaepiphyseal dysplasia, autosomal recessive|Stickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Fibrochondrogenesis 2|Autosomal recessive nonsyndromic hearing loss 53|Autosomal dominant nonsyndromic hearing loss 13|Connective tissue disorder
  • rs144862714Conflicting interpretationssingle nucleotide variant
  • rs145343609Conflicting interpretationssingle nucleotide variantOtospondylomegaepiphyseal dysplasia, autosomal recessive|Stickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Fibrochondrogenesis 2
  • rs145499142Conflicting interpretationssingle nucleotide variantFibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Stickler Syndrome, Dominant|Connective tissue disorder
  • rs146522169Conflicting interpretationssingle nucleotide variant
  • rs200523422Conflicting interpretationssingle nucleotide variantConnective tissue disorder
  • rs200947059Conflicting interpretationssingle nucleotide variant
  • rs201399429Conflicting interpretationssingle nucleotide variantFibrochondrogenesis 2|Stickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive
  • rs41268014Conflicting interpretationssingle nucleotide variantStickler Syndrome, Dominant|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Connective tissue disorder
  • rs121912945Pathogenicsingle nucleotide variantOtospondylomegaepiphyseal dysplasia, autosomal recessive
  • rs199946338Uncertain significancesingle nucleotide variant

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.