RS149339264 LMNA
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What This Variant Does
"CLNSIG=255
Associated Conditions
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Mandibuloacral dysplasia with type A lipodystrophy
Familial partial lipodystrophy
Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes
Hepatic Steatosis
Hypertrophic Cardiomyopathy
and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Other Variants in LMNA