RS267607146 TRPV4
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What This Variant Does
"CLNSIG=5
Associated Conditions
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuromuscular disease
Neuronopathy
distal hereditary motor
autosomal dominant 8
Hereditary motor neuron disease
Distal spinal muscular atrophy
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuromuscular disease
Neuronopathy
distal hereditary motor
Other Variants in TRPV4