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
RS371640468 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Inborn genetic diseases
RS372022187 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372206114 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372431744 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS372523558 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS373072443 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS373325570 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373369963 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
RS373392391 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373611722 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS373635709 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS373813975 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Congenital myopathy
RS373846012 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373862445 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS374011338 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS374166613 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Myosclerosis
RS374336669 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, COL6A2-related disorder
RS374384263 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
RS374504636 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS374669775 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B, Collagen 6-related myopathy
RS374673302 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS374795477 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS375288629 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS375608173 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS375884809 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Myosclerosis, Bethlem myopathy 1A
RS375966817 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS376303610 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Inborn genetic diseases
RS376359740 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A, Inborn genetic diseases
RS376368468 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS376378709 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Bethlem myopathy 1A
RS376527297 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376665722 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376841327 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS377195134 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS377376395 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
RS377389081 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS377476546 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123649 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123650 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS527236952 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS528885146 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS530625182 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS531713008 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS532522222 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS532656197 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS535007570 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
RS541785316 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS544436881 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, COL6A2-related disorder
RS545218705 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS546206539 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
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