RS757082154 TTN
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What This Variant Does
"CLNSIG=4
Associated Conditions
Waddling gait
Limb-girdle muscular dystrophy
Muscular dystrophy
Decreased patellar reflex
Proximal lower limb amyotrophy
Rimmed vacuoles
Myopathy
Lower limb muscle weakness
Limb-girdle muscle weakness
Limb-girdle muscle atrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
TTN-related myopathy
TTN-related disorder
Other Variants in TTN