RS797044802 IGHMBP2
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What This Variant Does
"CLNSIG=255
Associated Conditions
Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy
distal hereditary motor
autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
IGHMBP2-related disorder
Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy
distal hereditary motor
autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Other Variants in IGHMBP2