RS398123028 BICD2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Spinal muscular atrophy
Neuronopathy
distal hereditary motor
autosomal dominant
Distal myopathy
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Spinal muscular atrophy
Neuronopathy
distal hereditary motor
autosomal dominant
Distal myopathy
Other Variants in BICD2