LMNA Chromosome 1

Lamin A/C
613 variants 613 Health Risk

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What This Gene Does
The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]
Gene Info
Gene Group
Lamins
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000160789
Associated Conditions (81)
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
Congenital muscular dystrophy
Familial partial lipodystrophy
Dunnigan type
Laminopathy
Emery-Dreifuss muscular dystrophy 3
autosomal recessive
Monogenic diabetes
LMNA-related disorder
Lipodystrophy - childhood onset
7 conditions
Mandibuloacral dysplasia with type A lipodystrophy
atypical
Charcot-Marie-Tooth disease
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+61 more conditions
Key Variants
RS1001248677
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Dilated cardiomyopathy 1A
Health Risk
RS1016767319
Conflicting classifications of pathogenicity
Cardiomyopathy, Charcot-Marie-Tooth disease type 2, 11 conditions
Health Risk
RS1026599240
Conflicting classifications of pathogenicity
Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
Health Risk
RS1048086299
Conflicting classifications of pathogenicity
Health Risk
RS1057518971
Conflicting classifications of pathogenicity
Congenital muscular dystrophy, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy
Health Risk
RS1060502216
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Cardiomyopathy, 11 conditions
Health Risk
RS1064796394
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1131690785
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS11575937
Conflicting classifications of pathogenicity
Familial partial lipodystrophy, Dunnigan type, Laminopathy
Health Risk
RS1166140426
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1168314722
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
Health Risk
RS1171976101
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
All Variants (613)
RSID Category Clinical Significance Conditions
RS1001248677 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Dilated cardiomyopathy 1A
RS1016767319 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, 11 conditions
RS1026599240 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS1048086299 Health Risk Conflicting classifications of pathogenicity —
RS1057518971 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy
RS1060502216 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, 11 conditions
RS1064796394 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1131690785 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS11575937 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Laminopathy
RS1166140426 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy
RS1168314722 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS1171976101 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Primary dilated cardiomyopathy
RS117939448 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Primary dilated cardiomyopathy
RS1194309507 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS121912493 Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy, atypical, Charcot-Marie-Tooth disease type 2
RS1237093879 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, 11 conditions
RS1250284097 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1263919141 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 3, autosomal recessive
RS1281896947 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation
RS1332011298 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS137969290 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS138098342 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy
RS138592977 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS139875047 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1409406468 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy
RS142000963 Health Risk Conflicting classifications of pathogenicity Variant of unknown significance, Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease
RS142191737 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1S
RS1428192739 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS143189394 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Charcot-Marie-Tooth disease
RS143715750 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS144851946 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, LMNA-related disorder
RS147015659 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS148557956 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS150645079 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia with type A lipodystrophy
RS150840924 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hutchinson-Gilford syndrome, Charcot-Marie-Tooth disease type 2
RS150924946 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Cardiovascular phenotype
RS151160622 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Primary dilated cardiomyopathy
RS1553261858 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation
RS1553261977 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553262007 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS1553264647 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 11 conditions, Cardiovascular phenotype
RS1553265177 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS1553265369 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Charcot-Marie-Tooth disease type 2, Muscular dystrophy
RS1553265433 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265733 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553266048 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553266337 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, LMNA-related disorder
RS1558132909 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, LMNA-related disorder, Charcot-Marie-Tooth disease type 2
RS1558135172 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1572332952 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Dilated cardiomyopathy 1A
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