Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
COL6A2 Alpha 2 type VI collagen       | 21q22.3 | * Bethlem myopathy - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)* LGMDD5 - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)* Ullrich scleroatonic muscular dystrophy - UCMD1 (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)* LGMDR22 - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)* myosclerosis, autosomal recessive - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12) |