RS747900252 COL6A2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Collagen 6-related myopathy
Bethlem myopathy 1A
Muscle weakness
Hip flexor weakness
Difficulty walking
Falls
Congenital hip dislocation
Qualitative or quantitative defects of collagen 6
Bethlem myopathy
Ullrich congenital muscular dystrophy 1A
Abnormality of the musculature
Ullrich congenital muscular dystrophy 1B
Collagen 6-related myopathy
Bethlem myopathy 1A
Muscle weakness
Other Variants in COL6A2