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
RS752304678 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS752550335 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS752633980 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS752689011 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS752812483 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS752850582 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS753254039 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS754228661 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS754277446 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS754993978 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS755046298 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS755180015 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS755536829 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy
RS756100330 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS756206757 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS756803766 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS757075255 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS757252832 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS757556640 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS757825778 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS757917876 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS758182752 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS758186176 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS759065663 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Inborn genetic diseases
RS759184281 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS759237307 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS759563506 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS759905934 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS760640025 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS760786950 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS761741355 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS761818931 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS762021815 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS762817385 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS763294691 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL12A1-related disorder
RS763858637 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL12A1-related disorder
RS764153192 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS764241362 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS764448554 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS76453279 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS764600940 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS764727126 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS766046177 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS767343975 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS767422633 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS767845062 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS768052470 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS768545712 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS768626277 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS768824483 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
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