Gene entry
COL6A2
collagen type VI alpha 2 chain
- Chromosome
- 21
- Cytoband
- 21q22.3
- Variants (rsID)
- 58
COL6A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.3). Its official name is “collagen type VI alpha 2 chain”. The reference table lists 58 variants (rsID) for this gene.
Clinically classified variants
50 reference-table entries with clinical significance.
- rs1042917Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1
- rs10432965Benignsingle nucleotide variantGlutamate formiminotransferase deficiency|Collagen 6-related myopathy|Myosclerosis
- rs115957676Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs117154313Benignsingle nucleotide variant
- rs117668143Benignsingle nucleotide variantCollagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1
- rs141021828Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs141166141Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs144830948Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs150219725Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs17357592Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs35139588Benignsingle nucleotide variantCollagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1
- rs375430758Benignsingle nucleotide variantBethlem myopathy 1|Collagen 6-related myopathy
- rs377585812Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs78822624Benignsingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs111341650Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1
- rs113002150Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1
- rs117725825Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Myosclerosis|Collagen 6-related myopathy|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1
- rs138948335Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs139552940Conflicting interpretationssingle nucleotide variantMyopathy|Bethlem myopathy 1
- rs140890046Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs140929054Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs141233891Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Collagen 6-related myopathy
- rs142709940Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs143583433Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs143749884Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs146311719Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs148249892Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1
- rs149845431Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs150877061Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1
- rs199929757Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs200200671Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1
- rs201854898Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Ullrich congenital muscular dystrophy 1
- rs201879417Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1
- rs373611722Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs373813975Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs377195134Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs398123649Conflicting interpretationssingle nucleotide variant
- rs563505047Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs61735828Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1
- rs747900252Conflicting interpretationssingle nucleotide variantMyosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1|Falls|Muscle weakness|Congenital dislocation of hip|Difficulty walking|Hip flexor weakness|Qualitative or quantitative defects of collagen 6|Bethlem myopathy|Ullrich congenital muscular dystrophy 1|Abnormality of the musculature
- rs113525292Pathogenicsingle nucleotide variant
- rs267606750Pathogenicsingle nucleotide variantBethlem myopathy 1
- rs387906609Pathogenicsingle nucleotide variantBETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE|Bethlem myopathy 1
- rs199955442Uncertain significancesingle nucleotide variantBethlem myopathy 1
- rs200667230Uncertain significancesingle nucleotide variantBethlem myopathy 1
- rs201736323Uncertain significancesingle nucleotide variantBethlem myopathy 1
- rs267606749Uncertain significancesingle nucleotide variantUllrich congenital muscular dystrophy 1|Bethlem myopathy 1|Collagen 6-related myopathy|Myosclerosis
- rs376880198Uncertain significancesingle nucleotide variantBethlem myopathy 1
- rs387906607Uncertain significancesingle nucleotide variantUllrich congenital muscular dystrophy 1|Bethlem myopathy 1
- rs535007570Uncertain significancesingle nucleotide variantBethlem myopathy 1
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.