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
RS547589437 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS554016354 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Bethlem myopathy 1A
RS554113319 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS555312732 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS556385546 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Bethlem myopathy 1A
RS557446829 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS559666084 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS563449281 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS563505047 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS566966690 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS571051982 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS571488000 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS572345625 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS575365107 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Bethlem myopathy 1A
RS578127995 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS61735832 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS727502829 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS727503883 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1B, Bethlem myopathy 1A
RS745800327 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS745970130 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746012569 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746159648 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Inborn genetic diseases
RS746193653 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746268077 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746339542 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS746393019 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746727003 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
RS746930351 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1B
RS747184649 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Inborn genetic diseases
RS747608945 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS747734639 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
RS748047522 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748215430 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748283415 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748286207 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749711324 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS750097119 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, COL6A2-related disorder
RS750444649 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, COL6A2-related disorder
RS750755566 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS750842859 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS751071208 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751105293 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B, Myosclerosis
RS751192681 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder, Bethlem myopathy 1A
RS751410120 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751494076 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751512548 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
RS751688085 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Myosclerosis, Bethlem myopathy 1A
RS752243349 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
RS752803039 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS753423696 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
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