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Gene entry

COL6A3

collagen type VI alpha 3 chain

Chromosome
2
Cytoband
2q37.3
Variants (rsID)
113

COL6A3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q37.3). Its official name is “collagen type VI alpha 3 chain”. The reference table lists 113 variants (rsID) for this gene.

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Clinically classified variants

85 reference-table entries with clinical significance.

  • rs1050785Benignsingle nucleotide variantCollagen 6-related myopathy
  • rs111803773Benignsingle nucleotide variantBethlem myopathy 1
  • rs112896869Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs113066678Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs1131296Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Dystonia 27
  • rs115819851Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs137910388Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs148713779Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs150219857Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs151079701Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs182976977Benignsingle nucleotide variantDystonia 27|Collagen 6-related myopathy|Bethlem myopathy 1
  • rs2646254Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Dystonia 27
  • rs34978064Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs36020669Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs36104025Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs36117715Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1
  • rs3790990Benignsingle nucleotide variant
  • rs6728818Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Dystonia 27
  • rs6761147Benignsingle nucleotide variant
  • rs76646066Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs77444546Benignsingle nucleotide variant
  • rs79606264Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs111481402Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs112181324Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs112817175Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|COL6A3-related phenotype|Bethlem myopathy 1
  • rs112825341Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Muscular dystrophy|Collagen 6-related myopathy
  • rs113153193Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Toe walking
  • rs114131542Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs114144694Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs114278376Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs114284669Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Dystonia 27|Bethlem myopathy 1|Collagen 6-related myopathy
  • rs115327470Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs115551245Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs115893145Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs116505603Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs116541926Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Collagen 6-related myopathy
  • rs116608946Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs117345850Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs138285547Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Collagen 6-related myopathy
  • rs138466455Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Toe walking
  • rs139260335Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Collagen 6-related myopathy
  • rs140441798Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs140516220Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs142719863Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs143631346Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs144051775Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs146092501Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Toe walking
  • rs146291186Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs146355600Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs146546544Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Congenital contracture|Bethlem myopathy 1
  • rs147215386Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs148183839Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs148561729Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs148821986Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs149924028Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs150907698Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs184617787Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs189772397Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs199504304Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs200285455Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs200626456Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs202092407Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Collagen 6-related myopathy|Bethlem myopathy 1
  • rs34741387Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Toe walking
  • rs368800027Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs370146203Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs373108028Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs374447921Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs375657891Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Collagen 6-related myopathy
  • rs375909800Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs376087730Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs398124137Conflicting interpretationssingle nucleotide variant
  • rs541928674Conflicting interpretationssingle nucleotide variantDystonia 27|Collagen 6-related myopathy|Bethlem myopathy 1
  • rs547651808Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy
  • rs552651651Conflicting interpretationssingle nucleotide variantDystonia 27|Collagen 6-related myopathy|Bethlem myopathy 1|Toe walking
  • rs556079869Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs561804945Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
  • rs760380736Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
  • rs78427077Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Dystonia 27|Bethlem myopathy 1|Collagen 6-related myopathy
  • rs886043737Likely pathogenicsingle nucleotide variantBethlem myopathy 1
  • rs121434553Pathogenicsingle nucleotide variantBethlem myopathy 1
  • rs398124128Pathogenicsingle nucleotide variantUllrich congenital muscular dystrophy 1|Bethlem myopathy 1
  • rs886041434Pathogenicsingle nucleotide variant
  • rs886043113Pathogenicsingle nucleotide variant
  • rs200722892Uncertain significancesingle nucleotide variantBethlem myopathy 1
  • rs774198344Uncertain 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.