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
RS1553265342 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265436 Health Risk Pathogenic Muscular dystrophy, Muscular dystrophy
RS1553265455 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1553265630 Health Risk Pathogenic —
RS1553265660 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1553265760 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265865 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1553265924 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553266098 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1558115754 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1558115970 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1558133157 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1558133435 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572331707 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572332164 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572358860 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572359848 Health Risk Pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1572359991 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572362885 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572363397 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572366412 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572366593 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1572367812 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1649695841 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649696391 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649709575 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649719689 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649726768 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649727816 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649729767 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649736692 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651341099 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Charcot-Marie-Tooth disease type 2, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1651352665 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1651401067 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651466808 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651564707 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102816719 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS2102817088 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102817265 Health Risk Pathogenic —
RS2102817644 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102817667 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102817698 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818068 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818240 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818731 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818745 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102818749 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102865805 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102878324 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102879250 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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