RS267607149 TRPV4
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What This Variant Does
"CLNSIG=5
Associated Conditions
Spondyloepimetaphyseal dysplasia
Maroteaux type
Spondylometaphyseal dysplasia
Kozlowski type
Metatropic dysplasia
Neuromuscular disease
Skeletal dysplasia
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Spondyloepimetaphyseal dysplasia
Maroteaux type
Spondylometaphyseal dysplasia
Kozlowski type
Metatropic dysplasia
Other Variants in TRPV4