RS375014127 ANO5
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What This Variant Does
"CLNSIG=4
Associated Conditions
Myopathy
Fatty replacement of skeletal muscle
Distal muscle weakness
Elevated circulating creatine kinase concentration
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Muscular dystrophy
ANO5-Related Muscle Diseases
Myopathy
Fatty replacement of skeletal muscle
Distal muscle weakness
Elevated circulating creatine kinase concentration
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Other Variants in ANO5