COL12A1 Chromosome 6

Collagen type XII alpha 1 chain
386 variants 386 Health Risk

Upload your DNA to see your personal genotypes for variants in COL12A1.

What This Gene Does
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|Collagen proteoglycans|Fibril associated collagens with interrupted triple helices"
Locus Type
gene with protein product
Location
6q13-q14.1
Ensembl
ENSG00000111799
Associated Conditions (17)
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Ullrich congenital muscular dystrophy
COL12A1-related disorder
Inborn genetic diseases
Malignant tumor of esophagus
Myopathic Ehlers-Danlos syndrome
Bethlem myopathy
See cases
Cataract 16 multiple types
Ehlers-Danlos syndrome
Bartter disease type 4B
Global developmental delay
Abnormality of connective tissue
Ovarian serous cystadenocarcinoma
Neurodevelopmental disorder
Ullrich congenital muscular dystrophy 1A
Key Variants
RS1002433115
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
Health Risk
RS1013873051
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
Health Risk
RS1033545876
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
Health Risk
RS1053454286
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
Health Risk
RS1131691933
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115246424
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
Health Risk
RS1157488856
Conflicting classifications of pathogenicity
Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
Health Risk
RS1169467662
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
Health Risk
RS116980451
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Malignant tumor of esophagus
Health Risk
RS1180402350
Conflicting classifications of pathogenicity
Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
Health Risk
RS1187079906
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
Health Risk
RS1226171594
Conflicting classifications of pathogenicity
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
Health Risk
All Variants (386)
RSID Category Clinical Significance Conditions
RS377285294 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS41266761 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS41269309 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS528319887 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS530680231 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS534778154 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS536615203 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS542263318 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS543760014 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS544779989 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS549336635 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS549405420 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS552834799 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS558383133 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL12A1-related disorder
RS558571598 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS55997127 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS562076616 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS563331592 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS565471668 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS565496900 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS572007088 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS572512247 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS57396313 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS574863380 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS575168916 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS576888932 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS577784031 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS745852751 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS746059124 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS746453262 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS746929943 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS746982506 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS747410893 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS747479664 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS748277540 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS749005420 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS749287034 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS749317169 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS749368197 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS749722543 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS749754621 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS750550229 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS750624029 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS750973947 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS751344618 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS751419788 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS751638930 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS751986784 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS752068052 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS752189896 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
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