RS749890533 BSCL2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Neuronopathy
distal hereditary motor
type 5C
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy
Berardinelli-Seip congenital lipodystrophy
BSCL2-related disorder
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Neuronopathy
distal hereditary motor
type 5C
Other Variants in BSCL2