RS147314661 BSCL2

Health Risk Chr 11:62705406
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Associated Conditions
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Hereditary spastic paraplegia 17
Neuronopathy
distal hereditary motor
type 5C
BSCL2-related disorder
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Hereditary spastic paraplegia 17
Neuronopathy
Other Variants in BSCL2
rs786205068 rs786205069 rs786205070 rs587777608 rs786205071 rs137852970 rs1945400235 rs137852971 rs758843908 rs786205073
Ask Dr. Hemsworth about this variant