Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
COL12A1
collagen type XII alpha 1 chain




6q13-q14
* COL12A1-related congenital muscular dystrophy - (2.9, 2.10, 2.11)
* Ullrich congenital muscular dystrophy 2 - UCMD2 (2.9, 2.10, 2.11)
* Bethlem myopathy 2 - BTHLM2 (2.9, 2.10, 2.11)