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
RS1649714371 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2
RS1649747081 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651615685 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 11 conditions, Primary dilated cardiomyopathy
RS1651737692 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1651876607 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS17847242 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS17847247 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS188625872 Health Risk Conflicting classifications of pathogenicity Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy
RS200262654 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS200466188 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions, Emery-Dreifuss muscular dystrophy
RS200917748 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Cardiomyopathy, Long QT syndrome
RS2102817550 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation
RS2102865393 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1A, Cardiomyopathy
RS2102878915 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS2102881081 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2
RS2102884287 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102886618 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102886914 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102891660 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2102901580 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions, Charcot-Marie-Tooth disease type 2
RS2527832076 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy
RS2527936127 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2527936976 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS2527967845 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2527968384 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527974976 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS2527997089 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS267607543 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2
RS267607548 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy, Cardiovascular phenotype
RS267607560 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607564 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Cardiovascular phenotype
RS267607567 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS267607570 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS267607572 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS267607574 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS267607590 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607598 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS267607599 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607606 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions, Cardiomyopathy
RS267607608 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy
RS267607609 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 7 conditions, Charcot-Marie-Tooth disease type 2
RS267607613 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2
RS267607615 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607620 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS267607634 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607681 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Charcot-Marie-Tooth disease
RS28928900 Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy 1A
RS28928902 Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy, atypical, Charcot-Marie-Tooth disease type 2
RS368386019 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy, Cardiovascular phenotype, Cardiomyopathy
RS368542816 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2, Familial partial lipodystrophy
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