RS140108514 DYSF
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What This Variant Does
"CLNSIG=255
Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy
Clear cell carcinoma of kidney
Papillary renal cell carcinoma type 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
DYSF-related disorder
Other Variants in DYSF