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 |
|---|---|---|---|
| RS104894805 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS104894806 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS1057520579 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS1064797380 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS1209782193 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1262954618 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, Emery-Dreifuss muscular dystrophy 1 |
| RS137977232 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS139983160 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiomyopathy, Emery-Dreifuss muscular dystrophy |
| RS141732118 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS1430510939 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS144594695 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS145985318 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1460129668 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS147920229 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, Emery-Dreifuss muscular dystrophy 1 |
| RS148515772 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |
| RS150757295 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS151074632 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS1569552096 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1569552105 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS200537612 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, Cardiomyopathy |
| RS201250825 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1 |
| RS2148128297 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS2148128483 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS368661339 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS370840449 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS374981936 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS376456050 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |
| RS397515752 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |
| RS398123157 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy, Cardiomyopathy |
| RS727505029 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS781797234 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS781947413 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, Emery-Dreifuss muscular dystrophy 1 |
| RS782021157 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS782057378 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS782061626 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS782087009 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS782110153 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |
| RS782201984 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1 |
| RS782299893 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1, X-linked |
| RS782367505 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS782455914 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS782467790 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS782507902 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, Emery-Dreifuss muscular dystrophy 1 |
| RS782559230 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1 |
| RS782596223 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy |
| RS782642152 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype, Emery-Dreifuss muscular dystrophy |
| RS782644985 | Health Risk | Conflicting classifications of pathogenicity | X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS782764813 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 1, X-linked, Emery-Dreifuss muscular dystrophy 1 |
| RS782768362 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |
| RS782806462 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype |