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
RS794728591 Health Risk Conflicting classifications of pathogenicity Laminopathy, Primary dilated cardiomyopathy, Cardiovascular phenotype
RS794728601 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type
RS794728612 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS797044488 Health Risk Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome, Hutchinson-Gilford progeria syndrome, atypical
RS797045011 Health Risk Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome, Cardiomyopathy, Cardiovascular phenotype
RS80338938 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS80356804 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS80356812 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS863225024 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2
RS869069617 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS876657491 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS878855231 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS879253898 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS879253917 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Ovarian serous cystadenocarcinoma, Charcot-Marie-Tooth disease type 2
RS879253934 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS879253975 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS879254162 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS879254319 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS886038906 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Primary dilated cardiomyopathy
RS886043189 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS886043199 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation, Congenital muscular dystrophy due to LMNA mutation
RS886043260 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2
RS886043346 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS886044049 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Primary dilated cardiomyopathy
RS886045363 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B1, Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophy
RS886045365 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Dilated cardiomyopathy 1A, Familial partial lipodystrophy
RS899373360 Health Risk Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome, Charcot-Marie-Tooth disease type 2, 11 conditions
RS918645468 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Primary dilated cardiomyopathy
RS970494454 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS987157491 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1060502214 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1060502215 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1064793882 Health Risk Likely pathogenic —
RS1114167345 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1131691263 Health Risk Likely pathogenic Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy
RS1165819867 Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS1215331296 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS121912494 Health Risk Likely pathogenic Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia with type A lipodystrophy
RS1231097123 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1449688220 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553264624 Health Risk Likely pathogenic Muscular dystrophy, Muscular dystrophy
RS1553264668 Health Risk Likely pathogenic Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265180 Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS1553265606 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1553265739 Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS1553265761 Health Risk Likely pathogenic Muscular dystrophy, Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS1553265999 Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Emery-Dreifuss muscular dystrophy 2
RS1572332235 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572332762 Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1572358674 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
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