EMD Chromosome X
Emerin
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What This Gene Does
Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
LEM domain containing
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000102119
Associated Conditions (21)
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1
X-linked
Cardiomyopathy
EMD-related disorder
Charcot-Marie-Tooth disease type 2
Primary familial dilated cardiomyopathy
Myopathy
Flexion contracture
Failure to thrive
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
X-linked myopathy with postural muscle atrophy
CARDIOMYOPATHY
DILATED
3C
+1 more conditions
Key Variants
RS104894805
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
Health Risk
RS104894806
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
Health Risk
RS1057520579
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
Health Risk
RS1064797380
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy
Health Risk
RS1209782193
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
Health Risk
RS1262954618
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, Emery-Dreifuss muscular dystrophy 1
Health Risk
RS137977232
Conflicting classifications of pathogenicity
Cardiomyopathy, X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
Health Risk
RS139983160
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, Cardiomyopathy, Emery-Dreifuss muscular dystrophy
Health Risk
RS141732118
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy
Health Risk
RS1430510939
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy
Health Risk
RS144594695
Conflicting classifications of pathogenicity
X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy
Health Risk
RS145985318
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
All Variants (132)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522788283 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2522788352 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522788362 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522789000 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522789017 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Thyroid cancer, nonmedullary |
| RS2522789026 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522789891 | Health Risk | Pathogenic | Emery-Dreifuss muscular dystrophy 1, X-linked, Emery-Dreifuss muscular dystrophy 1 |
| RS2522790318 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522790590 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522790624 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522790701 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS267606782 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, CARDIOMYOPATHY, DILATED |
| RS398123155 | Health Risk | Pathogenic | — |
| RS727503036 | Health Risk | Pathogenic | Neuromuscular disease, Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS727504901 | Health Risk | Pathogenic | Neuromuscular disease, X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS730880352 | Health Risk | Pathogenic | Neuromuscular disease, X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1 |
| RS782011714 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS782222974 | Health Risk | Pathogenic | — |
| RS782452523 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, EMD-related disorder, Emery-Dreifuss muscular dystrophy 1 |
| RS782697057 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS794729010 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS876661345 | Health Risk | Pathogenic | Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS886044771 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS886044901 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |
| RS1557182301 | Health Risk | Pathogenic/Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182431 | Health Risk | Pathogenic/Likely pathogenic | Emery-Dreifuss muscular dystrophy 1, X-linked, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182661 | Health Risk | Pathogenic/Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182676 | Health Risk | Pathogenic/Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522790689 | Health Risk | Pathogenic/Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |
| RS2522790717 | Health Risk | Pathogenic/Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS398123158 | Health Risk | Pathogenic/Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |
| RS886041854 | Health Risk | Pathogenic/Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |