Search results for LMNA

Gene symbol Genotype Mutation consequence Disease Panels Go to page
LMNA monoallelic_autosomal altered gene product structure FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 DD
LMNA biallelic_autosomal uncertain CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 DD,Skin
LMNA monoallelic_autosomal absent gene product EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 DD,Skin
LMNA monoallelic_autosomal altered gene product structure HUTCHINSON-GILFORD PROGERIA SYNDROME DD,Skin
LMNA biallelic_autosomal absent gene product Restrictive dermopathy, lethal Skin
LMNA monoallelic_autosomal altered gene product structure Lipodystrophy, familial partial type 2 Skin
LMNA monoallelic_autosomal altered gene product structure LETHAL TIGHT SKIN CONTRACTURE SYNDROME Skin
LMNA monoallelic_autosomal uncertain HEART-HAND SYNDROME SLOVENIAN TYPE Skin