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
RS370134870 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS370200334 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, 11 conditions
RS370219874 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS371635492 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS372011095 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS373671419 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS373721390 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS374768416 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Primary dilated cardiomyopathy
RS374926367 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS375516745 Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy, Familial partial lipodystrophy
RS377700689 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy
RS397517886 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS397517890 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS397517897 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS397517901 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hypertrophic cardiomyopathy, Emery-Dreifuss muscular dystrophy 2
RS397517902 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517903 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS397517905 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS397517911 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS397517912 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Myocarditis, Primary dilated cardiomyopathy
RS397517914 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS41313880 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Primary dilated cardiomyopathy, Cardiovascular phenotype
RS41314033 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, LMNA-related disorder, Charcot-Marie-Tooth disease type 2
RS41314035 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia with type A lipodystrophy, Lethal tight skin contracture syndrome
RS505058 Health Risk Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome, Lethal tight skin contracture syndrome, Congenital muscular dystrophy due to LMNA mutation
RS555070042 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions, Charcot-Marie-Tooth disease type 2
RS556237236 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS56657623 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, 11 conditions
RS56851164 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS57318642 Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy, Hutchinson-Gilford syndrome, Cardiomyopathy
RS57520892 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Familial partial lipodystrophy
RS57629361 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Hutchinson-Gilford syndrome
RS578193315 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS57830985 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2
RS57901307 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS57966821 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS58105277 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, 11 conditions
RS58436778 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS58541611 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS58672172 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2
RS58789393 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS58850446 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS58917027 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS59040894 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS59601651 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS59885338 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease type 2, Autosomal recessive axonal hereditary motor and sensory neuropathy
RS59931416 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
RS60446065 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS60662302 Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Cardiovascular phenotype, Cardiomyopathy
RS60695352 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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