Gene entry
COL6A1
collagen type VI alpha 1 chain
- Chromosome
- 21
- Cytoband
- 21q22.3
- Variants (rsID)
- 53
COL6A1 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 1 chain”. The reference table lists 53 variants (rsID) for this gene.
Clinically classified variants
51 reference-table entries with clinical significance.
- rs1053312Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1
- rs117330552Benignsingle nucleotide variant
- rs13879Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1
- rs138884734Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1
- rs140547835Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs143695871Benignsingle nucleotide variantBethlem myopathy 1
- rs144671871Benignsingle nucleotide variantBethlem myopathy 1|Collagen 6-related myopathy
- rs146662894Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs184666690Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs2277814Benignsingle nucleotide variantBethlem myopathy 1|Ullrich congenital muscular dystrophy 1
- rs2839077Benignsingle nucleotide variantBethlem myopathy 1|Ullrich congenital muscular dystrophy 1
- rs35796750Benignsingle nucleotide variant
- rs7283989Benignsingle nucleotide variant
- rs78224483Benignsingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1
- rs117583120Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs138899581Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs139018148Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs140427635Conflicting interpretationssingle nucleotide variantBethlem myopathy 1|Collagen 6-related myopathy
- rs140534207Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1|Inborn genetic diseases
- rs142882745Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs143502850Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs144358858Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs145849970Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs148561616Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs148630223Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs148962954Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs149338158Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs150432347Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs186775751Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs200095847Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs200959957Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs367832752Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs368307185Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs368651226Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs373948031Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs398123638Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs398123640Conflicting interpretationssingle nucleotide variantEMG abnormality|Motor delay|Limb-girdle muscle weakness
- rs529770550Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs540554122Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs760649238Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs760768642Conflicting interpretationssingle nucleotide variantBethlem myopathy 1
- rs770099663Conflicting interpretationssingle nucleotide variantCollagen 6-related myopathy|Bethlem myopathy 1
- rs121912936Pathogenicsingle nucleotide variantBethlem myopathy 1
- rs121912938Pathogenicsingle nucleotide variantUllrich congenital muscular dystrophy 1, autosomal dominant|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1
- rs121912939Pathogenicsingle nucleotide variantUllrich congenital muscular dystrophy 1, autosomal dominant|Bethlem myopathy 1
- rs886043114PathogenicDeletionBethlem myopathy 1|Ullrich congenital muscular dystrophy 1
- rs886043147PathogenicDeletion
- rs138673993Uncertain significancesingle nucleotide variant
- rs189623561Uncertain significancesingle nucleotide variantBethlem myopathy 1
- rs200770631Uncertain significancesingle nucleotide variantBethlem myopathy 1
- rs759834554Uncertain significancesingle nucleotide variantCollagen 6-related myopathy
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.