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 |
|---|---|---|---|
| RS794729019 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS886044848 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS900267221 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS1557182198 | Health Risk | Likely pathogenic | — |
| RS1557182214 | Health Risk | Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, Charcot-Marie-Tooth disease type 2 |
| RS1557182708 | Health Risk | Likely pathogenic | — |
| RS1569552076 | Health Risk | Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1603365762 | Health Risk | Likely pathogenic | Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS2148128715 | Health Risk | Likely pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522789929 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 1, X-linked, Emery-Dreifuss muscular dystrophy 1 |
| RS2522790106 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 1, X-linked, Emery-Dreifuss muscular dystrophy 1 |
| RS2522790651 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 1, X-linked, Emery-Dreifuss muscular dystrophy 1 |
| RS398123156 | Health Risk | Likely pathogenic | — |
| RS1057524848 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1060502612 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS132630262 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS1422834817 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182286 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182317 | Health Risk | Pathogenic | Myopathy, Flexion contracture, Failure to thrive |
| RS1557182364 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182560 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Thyroid cancer, nonmedullary |
| RS1557182611 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182654 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182670 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1557182692 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1569552079 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1569552080 | Health Risk | Pathogenic | Emery-Dreifuss muscular dystrophy 1, X-linked, X-linked Emery-Dreifuss muscular dystrophy |
| RS1569552102 | Health Risk | Pathogenic | — |
| RS1569552106 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2067873691 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2067875732 | Health Risk | Pathogenic | — |
| RS2067883871 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2067885544 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148127941 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128122 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128139 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128153 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128459 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128554 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, Nonpapillary renal cell carcinoma, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128756 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128811 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128862 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128871 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128932 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128957 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128961 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522787001 | Health Risk | Pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS2522787159 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522787619 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2522787812 | Health Risk | Pathogenic | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |