COL12A1 Chromosome 6
Collagen type XII alpha 1 chain
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 |
|---|---|---|---|
| RS1554169319 | Health Risk | Likely pathogenic | — |
| RS1562294703 | Health Risk | Likely pathogenic | — |
| RS1562310723 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1582025807 | Health Risk | Likely pathogenic | Abnormality of connective tissue, Abnormality of connective tissue |
| RS1582208315 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Ullrich congenital muscular dystrophy 2 |
| RS1765954963 | Health Risk | Likely pathogenic | — |
| RS1766404539 | Health Risk | Likely pathogenic | Bethlem myopathy 2, Bethlem myopathy 2 |
| RS1766437216 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1766495554 | Health Risk | Likely pathogenic | — |
| RS1768356177 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1768488927 | Health Risk | Likely pathogenic | Bethlem myopathy 2, Bethlem myopathy 2 |
| RS1768495540 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ovarian serous cystadenocarcinoma |
| RS1768708203 | Health Risk | Likely pathogenic | — |
| RS2149322991 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2149344192 | Health Risk | Likely pathogenic | Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS2149347624 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2149349312 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2149372690 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2149416563 | Health Risk | Likely pathogenic | — |
| RS2533015150 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2533103607 | Health Risk | Likely pathogenic | Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS2533103728 | Health Risk | Likely pathogenic | — |
| RS2533103785 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2533167879 | Health Risk | Likely pathogenic | — |
| RS2533231035 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2533277727 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2533289372 | Health Risk | Likely pathogenic | — |
| RS2533311002 | Health Risk | Likely pathogenic | Bethlem myopathy 2, Bethlem myopathy 2 |
| RS2533371785 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2533398364 | Health Risk | Likely pathogenic | COL12A1-related disorder, COL12A1-related disorder |
| RS2533401869 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS2533666320 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS984784417 | Health Risk | Likely pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1064796670 | Health Risk | Pathogenic | COL12A1-related disorder, COL12A1-related disorder |
| RS115511838 | Health Risk | Pathogenic | Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS1266090046 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1333110706 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1411117952 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1554182935 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1562223444 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1582068925 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1582133194 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1582139761 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1582196903 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Ullrich congenital muscular dystrophy 2 |
| RS1765909471 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1767268002 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1767314344 | Health Risk | Pathogenic | Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS1768358162 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |
| RS1768416586 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 1A |
| RS1768702301 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2 |