COL6A2 Chromosome 21

Collagen type VI alpha 2 chain
531 variants 531 Health Risk

Upload your DNA to see your personal genotypes for variants in COL6A2.

What This Gene Does
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Collagens
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000142173
Associated Conditions (41)
Bethlem myopathy 1A
Inborn genetic diseases
Collagen 6-related myopathy
COL6A2-related disorder
Bethlem myopathy 1B
Tip-toe gait
Myopathy
Ullrich congenital muscular dystrophy 1A
Myosclerosis
Limb-girdle muscular dystrophy
Clear cell carcinoma of kidney
Ullrich congenital muscular dystrophy 1B
Bethlem myopathy
Lung cancer
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
+21 more conditions
Key Variants
RS1035908319
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
Health Risk
RS1057523383
Conflicting classifications of pathogenicity
Health Risk
RS1085307668
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS111341650
Conflicting classifications of pathogenicity
Collagen 6-related myopathy, Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS111630733
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS112317259
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS113002150
Conflicting classifications of pathogenicity
Collagen 6-related myopathy, Bethlem myopathy 1A, COL6A2-related disorder
Health Risk
RS113017484
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
Health Risk
RS11554669
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
Health Risk
RS1157175258
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
Health Risk
RS117725825
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Collagen 6-related myopathy, COL6A2-related disorder
Health Risk
RS1193152104
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
All Variants (531)
RSID Category Clinical Significance Conditions
RS199896699 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, COL6A2-related disorder
RS199929757 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, COL6A2-related disorder
RS199955442 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200096552 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS200167715 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS200200671 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS200482836 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS200488881 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS200585528 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS200667230 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS200710788 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, COL6A2-related disorder, Bethlem myopathy 1A
RS200797233 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Bethlem myopathy 1A
RS200824569 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201035005 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201094892 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201188174 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1A
RS201426778 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Bethlem myopathy 1A
RS201635208 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201736323 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201792591 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201854898 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS201879417 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS202094835 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078408746 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078462673 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2516999821 Health Risk Conflicting classifications of pathogenicity COL6A2-related disorder, Bethlem myopathy 1A, COL6A2-related disorder
RS267606749 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Myosclerosis
RS35887009 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS367658663 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Tip-toe gait, Bethlem myopathy 1A
RS367693258 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, See cases, Inborn genetic diseases
RS367857478 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368160013 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Inborn genetic diseases
RS368164391 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368588676 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Inborn genetic diseases
RS368641951 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS368725753 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Cervical cancer
RS369025432 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS369129061 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369344885 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369396198 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Inborn genetic diseases
RS369756029 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369954815 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Collagen 6-related myopathy
RS370008311 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS370155138 Health Risk Conflicting classifications of pathogenicity —
RS370171967 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS370446082 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS370558215 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS370624136 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Inborn genetic diseases
RS371383704 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS371576207 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
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