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
RS1002433115 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1013873051 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1033545876 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS1053454286 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS1131691933 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115246424 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS1157488856 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1169467662 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS116980451 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Malignant tumor of esophagus
RS1180402350 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1187079906 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS1226171594 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS1226233875 Health Risk Conflicting classifications of pathogenicity —
RS1235556906 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1244436929 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1295465247 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1329022055 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1357325121 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1367514850 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1371486094 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS1400969919 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS140583215 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS141593495 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1424010902 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS1436778165 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1447209458 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1453508139 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS146899194 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS147044263 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS148810173 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS151324784 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL12A1-related disorder
RS1554186583 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1582179372 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1766265062 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1768359621 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS180718181 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS182730243 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS183898615 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS184585202 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS185171880 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS185615367 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS186328815 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS186836845 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS187358458 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL12A1-related disorder
RS189762594 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Inborn genetic diseases
RS190917891 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS191233787 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS191757914 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS191996302 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS199501842 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
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