COL12A1 Chromosome 6

Collagen type XII alpha 1 chain
386 variants 386 Health Risk

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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
RS769219928 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL12A1-related disorder
RS769631929 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS769711983 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS769755656 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Inborn genetic diseases
RS769818518 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS770194625 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS770324764 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS770970810 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS771019349 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS771078518 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS771110521 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS771864984 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS772069524 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS772161963 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS772205982 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS772979149 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS773807635 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS774035582 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS774159573 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS774882851 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS775023310 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS775466928 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Inborn genetic diseases
RS775579405 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS775862147 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS776561287 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS776701367 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS777544552 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS777948762 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS778155362 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS778415707 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL12A1-related disorder
RS778941390 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS779038394 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS779184954 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS779800232 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS779848906 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS779895718 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS780206104 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL12A1-related disorder
RS780317617 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS780886772 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Bartter disease type 4B
RS978290681 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS984509796 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS994920789 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1064795770 Health Risk Likely pathogenic —
RS1064797326 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1131691587 Health Risk Likely pathogenic —
RS1178118885 Health Risk Likely pathogenic Bethlem myopathy 2, Bethlem myopathy 2
RS1274606112 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1366112521 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1441030917 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1554168326 Health Risk Likely pathogenic Inborn genetic diseases, Global developmental delay, Inborn genetic diseases
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