EMD (emerin) - Rat Genome Database

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Gene: EMD (emerin) Homo sapiens
Analyze
Symbol: EMD
Name: emerin
RGD ID: 735605
HGNC Page HGNC
Description: Exhibits actin binding activity and beta-tubulin binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; negative regulation of fibroblast proliferation; and positive regulation of protein export from nucleus. Localizes to endoplasmic reticulum; nuclear membrane; and nucleoplasm. Colocalizes with cortical endoplasmic reticulum and spindle pole centrosome. Implicated in Emery-Dreifuss muscular dystrophy; X-linked Emery-Dreifuss muscular dystrophy 1; and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EDMD; emerin (Emery-Dreifuss muscular dystrophy); LEM domain containing 5; LEMD5; STA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,379,197 - 154,381,523 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX154,379,273 - 154,381,523 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,379,236 - 154,381,523 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,607,655 - 153,609,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,260,981 - 153,263,075 (+)NCBINCBI36hg18NCBI36
Build 34X153,128,633 - 153,130,728NCBI
CeleraX153,768,677 - 153,770,963 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,185,074 - 142,187,360 (+)NCBIHuRef
CHM1_1X153,519,221 - 153,521,507 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of the neck  (IAGP)
Absent muscle fiber emerin  (IAGP)
Achilles tendon contracture  (IAGP)
Atrial arrhythmia  (IAGP)
Atrioventricular block  (IAGP)
Back pain  (IAGP)
Cardiomyopathy  (IAGP)
Childhood onset  (IAGP)
Decreased cervical spine flexion due to contractures of posterior cervical muscles  (IAGP)
Dilated cardiomyopathy  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Hyperlordosis  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Limb-girdle muscular dystrophy  (IAGP)
Lipodystrophy  (IAGP)
Myopathy  (IAGP)
Myotonia  (IAGP)
Obesity  (IAGP)
Pectus excavatum  (IAGP)
Proximal lower limb amyotrophy  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Proximal upper limb amyotrophy  (IAGP)
Ptosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Rimmed vacuoles  (IAGP)
Scapular winging  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Short neck  (IAGP)
Slowly progressive  (IAGP)
Spinal rigidity  (IAGP)
Sprengel anomaly  (IAGP)
Sudden cardiac death  (IAGP)
Supraventricular arrhythmia  (IAGP)
Toe walking  (IAGP)
Type 1 muscle fiber atrophy  (IAGP)
Ventricular escape rhythm  (IAGP)
Vocal cord paralysis  (IAGP)
Waddling gait  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:8248200   PMID:8589715   PMID:8595407   PMID:8655156   PMID:8733135   PMID:9361031   PMID:9442884   PMID:9472006   PMID:9673989   PMID:10323252   PMID:10673356   PMID:10965799  
PMID:11034899   PMID:11076863   PMID:11173535   PMID:11256614   PMID:11313760   PMID:11435115   PMID:11470279   PMID:11587540   PMID:11792821   PMID:11792822   PMID:11973618   PMID:12163176  
PMID:12477932   PMID:12493765   PMID:12665801   PMID:12670476   PMID:12755701   PMID:12783988   PMID:15009215   PMID:15109603   PMID:15144186   PMID:15328537   PMID:15489334   PMID:15489336  
PMID:15592455   PMID:15671068   PMID:15681850   PMID:16094384   PMID:16169070   PMID:16189514   PMID:16196087   PMID:16204256   PMID:16212419   PMID:16246140   PMID:16283426   PMID:16371512  
PMID:16381901   PMID:16481476   PMID:16680152   PMID:16738646   PMID:16761279   PMID:16823856   PMID:16858403   PMID:16889989   PMID:16997877   PMID:17067998   PMID:17081983   PMID:17097067  
PMID:17110338   PMID:17117676   PMID:17462627   PMID:17536044   PMID:17620012   PMID:17620497   PMID:17652388   PMID:17725712   PMID:17785515   PMID:18029348   PMID:18266676   PMID:18400857  
PMID:18646565   PMID:19022376   PMID:19126678   PMID:19167051   PMID:19167377   PMID:19302538   PMID:19323649   PMID:19454010   PMID:19494128   PMID:19727227   PMID:19738201   PMID:19759913  
PMID:19789182   PMID:19805454   PMID:19913121   PMID:19933576   PMID:19946888   PMID:20054742   PMID:20301609   PMID:20360068   PMID:20474083   PMID:20562859   PMID:20628086   PMID:20937808  
PMID:21081666   PMID:21139048   PMID:21145461   PMID:21182205   PMID:21346760   PMID:21391237   PMID:21486941   PMID:21565611   PMID:21610090   PMID:21697856   PMID:21873635   PMID:21890473  
PMID:21900206   PMID:21906983   PMID:21907836   PMID:21963094   PMID:21987572   PMID:22119785   PMID:22268729   PMID:22399800   PMID:22412018   PMID:22480903   PMID:22658674   PMID:22810586  
PMID:22939629   PMID:22990118   PMID:23275444   PMID:23398456   PMID:23438482   PMID:23443559   PMID:23464991   PMID:23623980   PMID:23873439   PMID:24014020   PMID:24337577   PMID:24375709  
PMID:24457600   PMID:24654937   PMID:24711643   PMID:24797263   PMID:24819607   PMID:24927568   PMID:24950247   PMID:24999758   PMID:25052089   PMID:25147182   PMID:25416956   PMID:25468996  
PMID:25502304   PMID:25502805   PMID:25665578   PMID:25798074   PMID:25852190   PMID:25910212   PMID:25921289   PMID:25948554   PMID:26209609   PMID:26472760   PMID:26496610   PMID:26514267  
PMID:26549023   PMID:26618866   PMID:26638075   PMID:26725010   PMID:26760575   PMID:26972000   PMID:27025967   PMID:27107012   PMID:27375898   PMID:27534416   PMID:27545878   PMID:27637333  
PMID:27684187   PMID:27865926   PMID:27880917   PMID:27960036   PMID:28031328   PMID:28065597   PMID:28192407   PMID:28238874   PMID:28290476   PMID:28330616   PMID:28515276   PMID:28655764  
PMID:28675297   PMID:28692057   PMID:28775156   PMID:28927264   PMID:28986522   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29298432   PMID:29395067   PMID:29467282   PMID:29507755  
PMID:29510091   PMID:29568061   PMID:29615496   PMID:29676528   PMID:29777862   PMID:29844126   PMID:29872149   PMID:29955894   PMID:29991511   PMID:30137533   PMID:30154147   PMID:30166453  
PMID:30188764   PMID:30194290   PMID:30209976   PMID:30344098   PMID:30449594   PMID:30463901   PMID:30542735   PMID:30619736   PMID:30669930   PMID:30804502   PMID:30833792   PMID:30871242  
PMID:30948266   PMID:31056421   PMID:31059266   PMID:31073040   PMID:31091453   PMID:31117946   PMID:31147383   PMID:31177093   PMID:31180492   PMID:31253590   PMID:31299612   PMID:31515488  
PMID:31586073   PMID:31685992   PMID:31796584   PMID:31950832   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32249768   PMID:32296183   PMID:32416067   PMID:32517247   PMID:32738194  
PMID:32814053   PMID:32824881   PMID:32877691   PMID:32923640   PMID:33144569  


Genomics

Comparative Map Data
EMD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,379,197 - 154,381,523 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX154,379,273 - 154,381,523 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,379,236 - 154,381,523 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,607,655 - 153,609,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,260,981 - 153,263,075 (+)NCBINCBI36hg18NCBI36
Build 34X153,128,633 - 153,130,728NCBI
CeleraX153,768,677 - 153,770,963 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,185,074 - 142,187,360 (+)NCBIHuRef
CHM1_1X153,519,221 - 153,521,507 (+)NCBICHM1_1
Emd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,298,272 - 73,305,169 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,298,293 - 73,305,154 (+)Ensembl
GRCm38X74,254,674 - 74,261,563 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,254,687 - 74,261,548 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,261,032 - 74,261,374 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,500,178 - 71,503,086 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,507,559 - 70,510,467 (+)NCBImm8
CeleraX65,508,981 - 65,511,889 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.92NCBI
Emd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,038,990 - 152,042,190 (+)NCBI
Rnor_6.0 EnsemblX156,452,818 - 156,456,035 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,452,847 - 156,455,858 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,192,993 - 152,196,004 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,351,228 - 160,354,239 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X160,427,431 - 160,430,442 (-)NCBI
Celera1135,854,577 - 135,857,588 (-)NCBICelera
Cytogenetic MapXq37NCBI
Emd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580864,532 - 866,904 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580864,532 - 866,904 (-)NCBIChiLan1.0ChiLan1.0
EMD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v0X143,792,178 - 143,794,530 (-)NCBIMhudiblu_PPA_v0panPan3
EMD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,050,309 - 122,052,629 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,050,455 - 122,052,524 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,379,062 - 107,381,339 (-)NCBI
ROS_Cfam_1.0X125,192,020 - 125,194,303 (-)NCBI
UMICH_Zoey_3.1X120,961,089 - 120,963,363 (-)NCBI
UNSW_CanFamBas_1.0X123,475,997 - 123,478,261 (-)NCBI
UU_Cfam_GSD_1.0X123,237,823 - 123,240,104 (-)NCBI
Emd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,389,931 - 119,392,424 (+)NCBI
SpeTri2.0NW_0049368091,127,701 - 1,130,195 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EMD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X124,883,047 - 124,885,429 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EMD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,689,588 - 128,692,105 (+)NCBI
ChlSab1.1 EnsemblX128,689,588 - 128,692,625 (+)Ensembl
Emd
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946805,573 - 808,001 (-)NCBI

Position Markers
WI-18472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,609,743 - 153,609,874UniSTSGRCh37
Build 36X153,262,937 - 153,263,068RGDNCBI36
CeleraX153,770,823 - 153,770,954RGD
Cytogenetic MapXq28UniSTS
HuRefX142,187,220 - 142,187,351UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
Whitehead-RH MapX323.2UniSTS
UniSTS:99059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,609,660 - 153,609,807UniSTSGRCh37
Build 36X153,262,854 - 153,263,001RGDNCBI36
CeleraX153,770,740 - 153,770,887RGD
HuRefX142,187,137 - 142,187,284UniSTS
ECD07850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,608,952 - 153,609,622UniSTSGRCh37
Build 36X153,262,146 - 153,262,816RGDNCBI36
CeleraX153,770,032 - 153,770,702RGD
Cytogenetic MapXq28UniSTS
HuRefX142,186,429 - 142,187,099UniSTS
ECD08009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,607,434 - 153,608,100UniSTSGRCh37
Build 36X153,260,628 - 153,261,294RGDNCBI36
CeleraX153,768,514 - 153,769,180RGD
Cytogenetic MapXq28UniSTS
HuRefX142,184,911 - 142,185,577UniSTS
ECD09020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,608,245 - 153,608,884UniSTSGRCh37
Build 36X153,261,439 - 153,262,078RGDNCBI36
CeleraX153,769,325 - 153,769,964RGD
Cytogenetic MapXq28UniSTS
HuRefX142,185,722 - 142,186,361UniSTS
ECD17287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,606,946 - 153,607,351UniSTSGRCh37
Build 36X153,260,140 - 153,260,545RGDNCBI36
CeleraX153,768,026 - 153,768,431RGD
Cytogenetic MapXq28UniSTS
ECD17398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,606,264 - 153,606,664UniSTSGRCh37
Build 36X153,259,458 - 153,259,858RGDNCBI36
CeleraX153,767,344 - 153,767,744RGD
Cytogenetic MapXq28UniSTS
HuRefX142,183,492 - 142,183,892UniSTS
REN89376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,605,652 - 153,605,901UniSTSGRCh37
Build 36X153,258,846 - 153,259,095RGDNCBI36
CeleraX153,766,732 - 153,766,981RGD
Cytogenetic MapXq28UniSTS
HuRefX142,182,881 - 142,183,130UniSTS
REN89377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,605,869 - 153,606,120UniSTSGRCh37
Build 36X153,259,063 - 153,259,314RGDNCBI36
CeleraX153,766,949 - 153,767,200RGD
Cytogenetic MapXq28UniSTS
HuRefX142,183,098 - 142,183,349UniSTS
REN89378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,606,089 - 153,606,336UniSTSGRCh37
Build 36X153,259,283 - 153,259,530RGDNCBI36
CeleraX153,767,169 - 153,767,416RGD
Cytogenetic MapXq28UniSTS
HuRefX142,183,318 - 142,183,564UniSTS
REN89379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,606,315 - 153,606,563UniSTSGRCh37
Build 36X153,259,509 - 153,259,757RGDNCBI36
CeleraX153,767,395 - 153,767,643RGD
Cytogenetic MapXq28UniSTS
HuRefX142,183,543 - 142,183,791UniSTS
REN89380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,606,433 - 153,606,661UniSTSGRCh37
Build 36X153,259,627 - 153,259,855RGDNCBI36
CeleraX153,767,513 - 153,767,741RGD
Cytogenetic MapXq28UniSTS
HuRefX142,183,661 - 142,183,889UniSTS
REN89381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,606,642 - 153,606,889UniSTSGRCh37
Build 36X153,259,836 - 153,260,083RGDNCBI36
CeleraX153,767,722 - 153,767,969RGD
Cytogenetic MapXq28UniSTS
REN89382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,606,916 - 153,607,143UniSTSGRCh37
Build 36X153,260,110 - 153,260,337RGDNCBI36
CeleraX153,767,996 - 153,768,223RGD
Cytogenetic MapXq28UniSTS
REN89383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,607,121 - 153,607,352UniSTSGRCh37
Build 36X153,260,315 - 153,260,546RGDNCBI36
CeleraX153,768,201 - 153,768,432RGD
Cytogenetic MapXq28UniSTS
HuRefX142,184,598 - 142,184,829UniSTS
REN89384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,607,331 - 153,607,556UniSTSGRCh37
Build 36X153,260,525 - 153,260,750RGDNCBI36
CeleraX153,768,411 - 153,768,636RGD
Cytogenetic MapXq28UniSTS
HuRefX142,184,808 - 142,185,033UniSTS
REN89385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,607,695 - 153,607,937UniSTSGRCh37
GRCh37X153,607,673 - 153,607,937UniSTSGRCh37
Build 36X153,260,867 - 153,261,131RGDNCBI36
CeleraX153,768,753 - 153,769,017RGD
CeleraX153,768,775 - 153,769,017UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,185,150 - 142,185,414UniSTS
HuRefX142,185,172 - 142,185,414UniSTS
REN89386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,607,911 - 153,608,163UniSTSGRCh37
Build 36X153,261,105 - 153,261,357RGDNCBI36
CeleraX153,768,991 - 153,769,243RGD
Cytogenetic MapXq28UniSTS
HuRefX142,185,388 - 142,185,640UniSTS
REN89387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,608,133 - 153,608,375UniSTSGRCh37
Build 36X153,261,327 - 153,261,569RGDNCBI36
CeleraX153,769,213 - 153,769,455RGD
Cytogenetic MapXq28UniSTS
HuRefX142,185,610 - 142,185,852UniSTS
REN89388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,608,352 - 153,608,614UniSTSGRCh37
Build 36X153,261,546 - 153,261,808RGDNCBI36
CeleraX153,769,432 - 153,769,694RGD
Cytogenetic MapXq28UniSTS
HuRefX142,185,829 - 142,186,091UniSTS
REN89389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,608,589 - 153,608,828UniSTSGRCh37
Build 36X153,261,783 - 153,262,022RGDNCBI36
CeleraX153,769,669 - 153,769,908RGD
Cytogenetic MapXq28UniSTS
HuRefX142,186,066 - 142,186,305UniSTS
REN89390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,608,806 - 153,609,059UniSTSGRCh37
Build 36X153,262,000 - 153,262,253RGDNCBI36
CeleraX153,769,886 - 153,770,139RGD
Cytogenetic MapXq28UniSTS
HuRefX142,186,283 - 142,186,536UniSTS
REN89391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,609,039 - 153,609,293UniSTSGRCh37
Build 36X153,262,233 - 153,262,487RGDNCBI36
CeleraX153,770,119 - 153,770,373RGD
Cytogenetic MapXq28UniSTS
HuRefX142,186,516 - 142,186,770UniSTS
REN89392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,609,265 - 153,609,514UniSTSGRCh37
Build 36X153,262,459 - 153,262,708RGDNCBI36
CeleraX153,770,345 - 153,770,594RGD
Cytogenetic MapXq28UniSTS
HuRefX142,186,742 - 142,186,991UniSTS
REN89393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,609,491 - 153,609,744UniSTSGRCh37
Build 36X153,262,685 - 153,262,938RGDNCBI36
CeleraX153,770,571 - 153,770,824RGD
Cytogenetic MapXq28UniSTS
HuRefX142,186,968 - 142,187,221UniSTS
REN89394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,609,688 - 153,609,919UniSTSGRCh37
Build 36X153,262,882 - 153,263,113RGDNCBI36
CeleraX153,770,768 - 153,770,999RGD
Cytogenetic MapXq28UniSTS
HuRefX142,187,165 - 142,187,396UniSTS
REN89395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,609,874 - 153,610,143UniSTSGRCh37
Build 36X153,263,068 - 153,263,337RGDNCBI36
CeleraX153,770,954 - 153,771,223RGD
Cytogenetic MapXq28UniSTS
HuRefX142,187,351 - 142,187,620UniSTS
G54831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,609,330 - 153,610,296UniSTSGRCh37
CeleraX153,770,410 - 153,771,376UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,186,807 - 142,187,773UniSTS
GDB:434880  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3329
Count of miRNA genes:939
Interacting mature miRNAs:1149
Transcripts:ENST00000369835, ENST00000369842, ENST00000428228, ENST00000468294, ENST00000471965, ENST00000485261, ENST00000486738, ENST00000492448, ENST00000494443
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2437 2949 1722 621 1930 462 4356 2168 3704 419 1458 1613 175 1 1204 2787 5 2
Low 2 42 4 3 20 3 1 29 30 1 1 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000369835   ⟹   ENSP00000358850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,379,273 - 154,381,291 (+)Ensembl
RefSeq Acc Id: ENST00000369842   ⟹   ENSP00000358857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,379,295 - 154,381,523 (+)Ensembl
RefSeq Acc Id: ENST00000428228   ⟹   ENSP00000401081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,379,361 - 154,381,283 (+)Ensembl
RefSeq Acc Id: ENST00000468294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,379,525 - 154,380,894 (+)Ensembl
RefSeq Acc Id: ENST00000471965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,380,565 - 154,381,443 (+)Ensembl
RefSeq Acc Id: ENST00000485261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,379,404 - 154,380,955 (+)Ensembl
RefSeq Acc Id: ENST00000486738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,379,341 - 154,381,279 (+)Ensembl
RefSeq Acc Id: ENST00000492448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,379,625 - 154,381,281 (+)Ensembl
RefSeq Acc Id: ENST00000494443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,379,428 - 154,380,462 (+)Ensembl
RefSeq Acc Id: NM_000117   ⟹   NP_000108
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,379,295 - 154,381,523 (+)NCBI
GRCh37X153,607,597 - 153,609,883 (+)ENTREZGENE
Build 36X153,260,981 - 153,263,075 (+)NCBI Archive
HuRefX142,185,074 - 142,187,360 (+)ENTREZGENE
CHM1_1X153,519,221 - 153,521,507 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452349   ⟹   XP_024308117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,379,236 - 154,381,523 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000108   ⟸   NM_000117
- UniProtKB: P50402 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308117   ⟸   XM_024452349
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000401081   ⟸   ENST00000428228
RefSeq Acc Id: ENSP00000358857   ⟸   ENST00000369842
RefSeq Acc Id: ENSP00000358850   ⟸   ENST00000369835
Protein Domains
LEM

Promoters
RGD ID:6808651
Promoter ID:HG_KWN:68640
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080921,   OTTHUMT00000080923,   OTTHUMT00000080925,   OTTHUMT00000081633,   OTTHUMT00000127770,   OTTHUMT00000127771,   OTTHUMT00000127772,   OTTHUMT00000130306
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,259,781 - 153,260,982 (+)MPROMDB
RGD ID:6852876
Promoter ID:EP74255
Type:initiation region
Name:HS_EMD
Description:Emerin (Emery-Dreifuss muscular dystrophy).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,260,918 - 153,260,978EPD
RGD ID:6808652
Promoter ID:HG_KWN:68641
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000080924
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,261,981 - 153,262,481 (+)MPROMDB
RGD ID:13628600
Promoter ID:EPDNEW_H29538
Type:initiation region
Name:EMD_2
Description:emerin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29540  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,373,658 - 154,373,718EPDNEW
RGD ID:13628604
Promoter ID:EPDNEW_H29540
Type:initiation region
Name:EMD_1
Description:emerin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29538  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,379,295 - 154,379,355EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) single nucleotide variant Cardiomyopathy [RCV000029690]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000686102] ChrX:154380902 [GRCh38]
ChrX:153609262 [GRCh37]
ChrX:Xq28
likely pathogenic|likely benign|uncertain significance
EMD, 2-BP DEL, NT564 deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000011921] ChrX:Xq28 pathogenic
NM_000117.2(EMD):c.1A>G (p.Met1Val) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000802953]|not provided [RCV000254894] ChrX:154379485 [GRCh38]
ChrX:153607845 [GRCh37]
ChrX:Xq28
pathogenic
EMD, 29-BP DEL, NT113 deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000011923] ChrX:Xq28 pathogenic
EMD, 2-BP INS, NT198 insertion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000011924] ChrX:Xq28 pathogenic
EMD, IVSAS, A-G, -3, 214-BP INS insertion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000011925] ChrX:Xq28 pathogenic
NM_000117.2(EMD):c.130C>T (p.Gln44Ter) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000011926]|not provided [RCV000078128] ChrX:154379737 [GRCh38]
ChrX:153608097 [GRCh37]
ChrX:Xq28
pathogenic
EMD, 1-BP DEL, FS236TER deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000011927] ChrX:Xq28 pathogenic
NM_000117.2(EMD):c.548C>A (p.Pro183His) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001224353] ChrX:154380980 [GRCh38]
ChrX:153609340 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.547C>A (p.Pro183Thr) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000011929] ChrX:154380979 [GRCh38]
ChrX:153609339 [GRCh37]
ChrX:Xq28
pathogenic
EMD, 5-BP DEL, NT631 deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000011930] ChrX:Xq28 pathogenic
NM_000117.3(EMD):c.144C>T (p.Leu48=) single nucleotide variant Cardiomyopathy [RCV000770586]|Cardiovascular phenotype [RCV000617921]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000461030]|not specified [RCV000035104] ChrX:154379751 [GRCh38]
ChrX:153608111 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) single nucleotide variant Cardiomyopathy [RCV000770588]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001085397]|not provided [RCV000756071]|not specified [RCV000035105] ChrX:154380240 [GRCh38]
ChrX:153608600 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.3(EMD):c.396C>T (p.His132=) single nucleotide variant Cardiomyopathy [RCV000770589]|Cardiovascular phenotype [RCV000621249]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000474105]|not specified [RCV000035106] ChrX:154380364 [GRCh38]
ChrX:153608724 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_000117.3(EMD):c.465C>T (p.Tyr155=) single nucleotide variant Cardiomyopathy [RCV000770591]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000234779]|not specified [RCV000035107] ChrX:154380897 [GRCh38]
ChrX:153609257 [GRCh37]
ChrX:Xq28
benign
NM_000117.3(EMD):c.494C>T (p.Thr165Met) single nucleotide variant not specified [RCV000035108] ChrX:154380926 [GRCh38]
ChrX:153609286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.495G>A (p.Thr165=) single nucleotide variant Cardiovascular phenotype [RCV000248685]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000228467]|not specified [RCV000035109] ChrX:154380927 [GRCh38]
ChrX:153609287 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity
NM_000117.3(EMD):c.571A>G (p.Met191Val) single nucleotide variant not specified [RCV000035110] ChrX:154381003 [GRCh38]
ChrX:153609363 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001089148]|not provided [RCV000732781]|not specified [RCV000035111] ChrX:154381078 [GRCh38]
ChrX:153609438 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.3(EMD):c.83-13C>G single nucleotide variant not specified [RCV000035112] ChrX:154379677 [GRCh38]
ChrX:153608037 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.239_240insT (p.Glu80fs) insertion not provided [RCV000078129] ChrX:154379993..154379994 [GRCh38]
ChrX:153608353..153608354 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.284_298del (p.Tyr95_Tyr99del) deletion not provided [RCV000178044] ChrX:154380247..154380261 [GRCh38]
ChrX:153608607..153608621 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000117.2(EMD):c.355C>T (p.Gln119Ter) single nucleotide variant not provided [RCV000078131] ChrX:154380323 [GRCh38]
ChrX:153608683 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.450-2A>G single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000816244]|not provided [RCV000078132] ChrX:154380880 [GRCh38]
ChrX:153609240 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_000117.2(EMD):c.399+18C>T single nucleotide variant not specified [RCV000124887] ChrX:154380385 [GRCh38]
ChrX:153608745 [GRCh37]
ChrX:Xq28
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000117.2(EMD):c.-7A>C single nucleotide variant not provided [RCV000173065] ChrX:154379478 [GRCh38]
ChrX:153607838 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.423T>G (p.Ser141=) single nucleotide variant not provided [RCV000597174] ChrX:154380776 [GRCh38]
ChrX:153609136 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154363949-154405679)x3 copy number gain See cases [RCV000137621] ChrX:154363949..154405679 [GRCh38]
ChrX:153592317..153634020 [GRCh37]
ChrX:153245511..153287214 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154017291-154394658)x3 copy number gain See cases [RCV000141234] ChrX:154017291..154394658 [GRCh38]
ChrX:153333946..153623000 [GRCh37]
ChrX:152935936..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638218]|not specified [RCV000155888] ChrX:154379554 [GRCh38]
ChrX:153607914 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.650_654dupTGGGC microsatellite Neuromuscular disease [RCV000155918] ChrX:154381072..154381073 [GRCh38]
ChrX:153609432..153609433 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.83-2A>G single nucleotide variant Neuromuscular disease [RCV000156286] ChrX:154379688 [GRCh38]
ChrX:153608048 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000117.3(EMD):c.266-2A>G single nucleotide variant Emery-Dreifuss muscular dystrophy [RCV001280616]|Neuromuscular disease [RCV000150647]|not provided [RCV000727586] ChrX:154380232 [GRCh38]
ChrX:153608592 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.711C>T (p.Ile237=) single nucleotide variant not specified [RCV000150649] ChrX:154381143 [GRCh38]
ChrX:153609503 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.77T>C (p.Val26Ala) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001049941]|not specified [RCV000156455] ChrX:154379561 [GRCh38]
ChrX:153607921 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638213]|not specified [RCV000150648] ChrX:154381030 [GRCh38]
ChrX:153609390 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000616618]|not provided [RCV000179255] ChrX:154380886 [GRCh38]
ChrX:153609246 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.466G>A (p.Gly156Ser) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000467850]|not specified [RCV000183440] ChrX:154380898 [GRCh38]
ChrX:153609258 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.187+1G>T single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001037353]|not provided [RCV000497569] ChrX:154379795 [GRCh38]
ChrX:153608155 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.449+5G>A single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000804499]|Emery-Dreifuss muscular dystrophy [RCV001271616]|not provided [RCV000183442] ChrX:154380807 [GRCh38]
ChrX:153609167 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000117.2(EMD):c.559T>C (p.Ser187Pro) single nucleotide variant not provided [RCV000183443] ChrX:154380991 [GRCh38]
ChrX:153609351 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.608G>A (p.Arg203His) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000551176]|Emery-Dreifuss muscular dystrophy [RCV001271618]|not provided [RCV000183444] ChrX:154381040 [GRCh38]
ChrX:153609400 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.610C>T (p.Arg204Cys) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638225]|Emery-Dreifuss muscular dystrophy [RCV001271619]|not provided [RCV000183445] ChrX:154381042 [GRCh38]
ChrX:153609402 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance
NM_000117.2(EMD):c.671C>T (p.Pro224Leu) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638226]|Emery-Dreifuss muscular dystrophy [RCV001271620]|not provided [RCV000183446] ChrX:154381103 [GRCh38]
ChrX:153609463 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.20T>A (p.Leu7His) single nucleotide variant not provided [RCV000183447] ChrX:154379504 [GRCh38]
ChrX:153607864 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.65C>T (p.Pro22Leu) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001348561]|not provided [RCV000183448] ChrX:154379549 [GRCh38]
ChrX:153607909 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.103G>A (p.Glu35Lys) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000465491] ChrX:154379710 [GRCh38]
ChrX:153608070 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) deletion not provided [RCV000183450] ChrX:154380977..154380979 [GRCh38]
ChrX:153609337..153609339 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.115_117del (p.Phe39del) deletion not provided [RCV000727962] ChrX:154379720..154379722 [GRCh38]
ChrX:153608080..153608082 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.215A>T (p.Asp72Val) single nucleotide variant not provided [RCV000726925] ChrX:154379969 [GRCh38]
ChrX:153608329 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153588672-153613200)x2 copy number gain See cases [RCV000240163] ChrX:153588672..153613200 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000117.2(EMD):c.611G>A (p.Arg204His) single nucleotide variant Cardiovascular phenotype [RCV000618581]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000551537]|not provided [RCV000762691] ChrX:154381043 [GRCh38]
ChrX:153609403 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.23C>G (p.Ser8Trp) single nucleotide variant Primary dilated cardiomyopathy [RCV000208426] ChrX:154379507 [GRCh38]
ChrX:153607867 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.406G>C (p.Asp136His) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001217687]|Primary familial hypertrophic cardiomyopathy [RCV000208067] ChrX:154380759 [GRCh38]
ChrX:153609119 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.128C>G (p.Thr43Ser) single nucleotide variant not provided [RCV000756072] ChrX:154379735 [GRCh38]
ChrX:153608095 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.57C>T (p.Tyr19=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000232450]|not specified [RCV000222250] ChrX:154379541 [GRCh38]
ChrX:153607901 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.430G>T (p.Glu144Ter) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000557820]|not provided [RCV000723516] ChrX:154380783 [GRCh38]
ChrX:153609143 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.711C>G (p.Ile237Met) single nucleotide variant not specified [RCV000217652] ChrX:154381143 [GRCh38]
ChrX:153609503 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.400-9C>T single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000608494]|not provided [RCV000726976]|not specified [RCV000219256] ChrX:154380744 [GRCh38]
ChrX:153609104 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.445G>C (p.Asp149His) single nucleotide variant Cardiomyopathy [RCV000853050]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000230785]|Emery-Dreifuss muscular dystrophy [RCV001271615]|not provided [RCV001310759]|not specified [RCV000594536] ChrX:154380798 [GRCh38]
ChrX:153609158 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000117.2(EMD):c.73C>A (p.Pro25Thr) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000806966]|not specified [RCV000223860] ChrX:154379557 [GRCh38]
ChrX:153607917 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.-248_*326dup1339 duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000233688] ChrX:154379237..154381523 [GRCh38]
ChrX:153607597..153609883 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) single nucleotide variant Cardiomyopathy [RCV000770590]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001081535]|not provided [RCV000725641]|not specified [RCV000379091] ChrX:154380781 [GRCh38]
ChrX:153609141 [GRCh37]
ChrX:Xq28
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.153dup (p.Ser52fs) duplication Cardiovascular phenotype [RCV000246169]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000697180]|not provided [RCV000223909] ChrX:154379754..154379755 [GRCh38]
ChrX:153608114..153608115 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000117.2(EMD):c.537G>A (p.Leu179=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001081000]|not provided [RCV000726975]|not specified [RCV000516427] ChrX:154380969 [GRCh38]
ChrX:153609329 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.149C>A (p.Pro50His) single nucleotide variant not provided [RCV000270229] ChrX:154379756 [GRCh38]
ChrX:153608116 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.548C>T (p.Pro183Leu) single nucleotide variant not provided [RCV000303060] ChrX:154380980 [GRCh38]
ChrX:153609340 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.295T>C (p.Tyr99His) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000822646]|not provided [RCV000336509] ChrX:154380263 [GRCh38]
ChrX:153608623 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.60del (p.Asn20fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000526347]|not provided [RCV000283932] ChrX:154379544 [GRCh38]
ChrX:153607904 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000117.2(EMD):c.449+10G>C single nucleotide variant not provided [RCV000272940] ChrX:154380812 [GRCh38]
ChrX:153609172 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.512C>A (p.Ser171Ter) single nucleotide variant not provided [RCV000498046] ChrX:154380944 [GRCh38]
ChrX:153609304 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.460A>G (p.Met154Val) single nucleotide variant not provided [RCV000347322] ChrX:154380892 [GRCh38]
ChrX:153609252 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.610C>G (p.Arg204Gly) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001088437]|not provided [RCV000725843] ChrX:154381042 [GRCh38]
ChrX:153609402 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.82+4C>A single nucleotide variant not provided [RCV000283476] ChrX:154379570 [GRCh38]
ChrX:153607930 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.12C>T (p.Tyr4=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001085328]|not provided [RCV000726522]|not specified [RCV000285079] ChrX:154379496 [GRCh38]
ChrX:153607856 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000695175]|not provided [RCV000726441]|not specified [RCV000396796] ChrX:154380898 [GRCh38]
ChrX:153609258 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.525C>T (p.Ser175=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001082980]|not provided [RCV000725575]|not specified [RCV000361555] ChrX:154380957 [GRCh38]
ChrX:153609317 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.103G>T (p.Glu35Ter) single nucleotide variant not provided [RCV000406349] ChrX:154379710 [GRCh38]
ChrX:153608070 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.385G>A (p.Ala129Thr) single nucleotide variant not provided [RCV000298255] ChrX:154380353 [GRCh38]
ChrX:153608713 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) single nucleotide variant not provided [RCV000725045]|not specified [RCV000331953] ChrX:154381094 [GRCh38]
ChrX:153609454 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.110A>T (p.Lys37Met) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001058405]|not provided [RCV000489349] ChrX:154379717 [GRCh38]
ChrX:153608077 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.82G>A (p.Gly28Arg) single nucleotide variant not provided [RCV000487908] ChrX:154379566 [GRCh38]
ChrX:153607926 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000117.2(EMD):c.495G>T (p.Thr165=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001089082]|not provided [RCV000597033] ChrX:154380927 [GRCh38]
ChrX:153609287 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.188-4C>T single nucleotide variant not specified [RCV000606654] ChrX:154379938 [GRCh38]
ChrX:153608298 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.502C>T (p.Arg168Cys) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638223]|not provided [RCV000403886] ChrX:154380934 [GRCh38]
ChrX:153609294 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.353G>A (p.Arg118His) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638216] ChrX:154380321 [GRCh38]
ChrX:153608681 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.188A>G (p.Asp63Gly) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638221] ChrX:154379942 [GRCh38]
ChrX:153608302 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.549T>C (p.Pro183=) single nucleotide variant not provided [RCV000305985] ChrX:154380981 [GRCh38]
ChrX:153609341 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.251_255del (p.Leu84fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001216679]|not provided [RCV000498396] ChrX:154380002..154380006 [GRCh38]
ChrX:153608362..153608366 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.3G>A (p.Met1Ile) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001068392]|not provided [RCV000518435] ChrX:154379487 [GRCh38]
ChrX:153607847 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.449+4C>T single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001315779]|not provided [RCV000358209] ChrX:154380806 [GRCh38]
ChrX:153609166 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.562A>C (p.Thr188Pro) single nucleotide variant Cardiomyopathy [RCV000770592]|not provided [RCV000591770] ChrX:154380994 [GRCh38]
ChrX:153609354 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.449+4C>G single nucleotide variant not provided [RCV000592236] ChrX:154380806 [GRCh38]
ChrX:153609166 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.243C>T (p.Asp81=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001088435]|not provided [RCV000591828] ChrX:154379997 [GRCh38]
ChrX:153608357 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.359C>T (p.Ser120Leu) single nucleotide variant Cardiovascular phenotype [RCV000617560]|Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001341792] ChrX:154380327 [GRCh38]
ChrX:153608687 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.144C>G (p.Leu48=) single nucleotide variant not provided [RCV000592967] ChrX:154379751 [GRCh38]
ChrX:153608111 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.468_471del (p.Arg157fs) deletion not provided [RCV000730390] ChrX:154380897..154380900 [GRCh38]
ChrX:153609257..153609260 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs) microsatellite Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638215] ChrX:154379968..154379969 [GRCh38]
ChrX:153608328..153608329 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.408T>C (p.Asp136=) single nucleotide variant not provided [RCV000729359] ChrX:154380761 [GRCh38]
ChrX:153609121 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.436G>A (p.Glu146Lys) single nucleotide variant not specified [RCV000414020] ChrX:154380789 [GRCh38]
ChrX:153609149 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.188-18C>G single nucleotide variant not specified [RCV000427410] ChrX:154379924 [GRCh38]
ChrX:153608284 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000117.2(EMD):c.333C>T (p.Ala111=) single nucleotide variant not specified [RCV000421076] ChrX:154380301 [GRCh38]
ChrX:153608661 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000117.2(EMD):c.444G>A (p.Lys148=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000866390]|not specified [RCV000421217] ChrX:154380797 [GRCh38]
ChrX:153609157 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.171C>T (p.Ser57=) single nucleotide variant not provided [RCV000726639]|not specified [RCV000421335] ChrX:154379778 [GRCh38]
ChrX:153608138 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000117.2(EMD):c.702C>T (p.Val234=) single nucleotide variant not specified [RCV000442442] ChrX:154381134 [GRCh38]
ChrX:153609494 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.266-19C>T single nucleotide variant not specified [RCV000439370] ChrX:154380215 [GRCh38]
ChrX:153608575 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.-24C>T single nucleotide variant not specified [RCV000421883] ChrX:154379461 [GRCh38]
ChrX:153607821 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.400-14A>G single nucleotide variant not specified [RCV000439636] ChrX:154380739 [GRCh38]
ChrX:153609099 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000117.2(EMD):c.400-20G>A single nucleotide variant not specified [RCV000429784] ChrX:154380733 [GRCh38]
ChrX:153609093 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.166G>A (p.Ala56Thr) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000537218]|not provided [RCV000422963] ChrX:154379773 [GRCh38]
ChrX:153608133 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000117.2(EMD):c.188-13C>T single nucleotide variant not specified [RCV000444648] ChrX:154379929 [GRCh38]
ChrX:153608289 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.108G>A (p.Lys36=) single nucleotide variant not specified [RCV000437417] ChrX:154379715 [GRCh38]
ChrX:153608075 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.419T>A (p.Leu140Ter) single nucleotide variant not provided [RCV000441327] ChrX:154380772 [GRCh38]
ChrX:153609132 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000117.2(EMD):c.355C>A (p.Gln119Lys) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000687906]|not provided [RCV000727407] ChrX:154380323 [GRCh38]
ChrX:153608683 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.489C>T (p.Ser163=) single nucleotide variant not provided [RCV000473562] ChrX:154380921 [GRCh38]
ChrX:153609281 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.432A>G (p.Glu144=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000473962]|not specified [RCV000613194] ChrX:154380785 [GRCh38]
ChrX:153609145 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000458523] ChrX:154379730 [GRCh38]
ChrX:153608090 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000793350]|not provided [RCV000498750] ChrX:154381032 [GRCh38]
ChrX:153609392 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000117.2(EMD):c.121_155del (p.Tyr41fs) deletion not provided [RCV000498959] ChrX:154379726..154379760 [GRCh38]
ChrX:153608086..153608120 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_154379237)_(154381523_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000498131] ChrX:154379237..154381523 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.703_704insA (p.Phe235fs) insertion not provided [RCV000497314] ChrX:154381135..154381136 [GRCh38]
ChrX:153609495..153609496 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000117.2(EMD):c.621del (p.Pro208fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000697863]|not provided [RCV000497431] ChrX:154381052 [GRCh38]
ChrX:153609412 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.640_644dup (p.Gln219fs) duplication not provided [RCV000497728] ChrX:154381071..154381072 [GRCh38]
ChrX:153609431..153609432 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000117.3(EMD):c.46_82+6del deletion not provided [RCV000497779] ChrX:154379530..154379572 [GRCh38]
ChrX:153607890..153607932 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000117.3(EMD):c.82+1G>T single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000497910] ChrX:154379567 [GRCh38]
ChrX:153607927 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.674_678del (p.Leu225fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000498518] ChrX:154381106..154381110 [GRCh38]
ChrX:153609466..153609470 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.229C>T (p.Pro77Ser) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001349031]|not specified [RCV000500737] ChrX:154379983 [GRCh38]
ChrX:153608343 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:153418991-153644258)x3 copy number gain See cases [RCV000511851] ChrX:153418991..153644258 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000117.2(EMD):c.704T>C (p.Phe235Ser) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638217]|not provided [RCV000734568] ChrX:154381136 [GRCh38]
ChrX:153609496 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.581_582del (p.Ser194fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638224] ChrX:154381013..154381014 [GRCh38]
ChrX:153609373..153609374 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000543940] ChrX:154379496 [GRCh38]
ChrX:153607856 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.83G>A (p.Gly28Glu) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638220] ChrX:154379690 [GRCh38]
ChrX:153608050 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.746A>G (p.Glu249Gly) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638222]|not provided [RCV000827235] ChrX:154381178 [GRCh38]
ChrX:153609538 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000117.2(EMD):c.315T>C (p.Tyr105=) single nucleotide variant not provided [RCV000638227] ChrX:154380283 [GRCh38]
ChrX:153608643 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.449G>C (p.Arg150Thr) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000534154] ChrX:154380802 [GRCh38]
ChrX:153609162 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.168C>T (p.Ala56=) single nucleotide variant not provided [RCV000598121] ChrX:154379775 [GRCh38]
ChrX:153608135 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153588672-153609996) copy number gain Migraine with aura [RCV000626555] ChrX:153588672..153609996 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.400-13CT[2] microsatellite not specified [RCV000607069] ChrX:154380740..154380741 [GRCh38]
ChrX:153609100..153609101 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.396C>A (p.His132Gln) single nucleotide variant not specified [RCV000602554] ChrX:154380364 [GRCh38]
ChrX:153608724 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.135dup (p.Arg46fs) duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000638214] ChrX:154379740..154379741 [GRCh38]
ChrX:153608100..153608101 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.484C>T (p.Gln162Ter) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000690680]|not provided [RCV000596678] ChrX:154380916 [GRCh38]
ChrX:153609276 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.330T>C (p.Ser110=) single nucleotide variant Cardiovascular phenotype [RCV000620188] ChrX:154380298 [GRCh38]
ChrX:153608658 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.184dup (p.Ser62fs) duplication Myopathy [RCV000626613] ChrX:154379790..154379791 [GRCh38]
ChrX:153608150..153608151 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_000117.2(EMD):c.400G>A (p.Val134Met) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000701008]|Emery-Dreifuss muscular dystrophy [RCV001271614]|not provided [RCV000513465] ChrX:154380753 [GRCh38]
ChrX:153609113 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV000708327] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153322172-153624604)x2 copy number gain not provided [RCV000684742] ChrX:153322172..153624604 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153567411-153621434)x1 copy number loss not provided [RCV000684746] ChrX:153567411..153621434 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.267C>G (p.Gly89=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000705677] ChrX:154380235 [GRCh38]
ChrX:153608595 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153607825)_(153609577_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000708131] ChrX:153607825..153609577 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153577217)_(153609557_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000708386] ChrX:153577217..153609557 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.607del (p.Arg203fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000706552] ChrX:154381037 [GRCh38]
ChrX:153609397 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.116_143del (p.Phe39fs) deletion not provided [RCV000711610] ChrX:154379721..154379748 [GRCh38]
ChrX:153608081..153608108 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153577197)_(153609577_?)dup duplication Periventricular nodular heterotopia 1 [RCV000708395] ChrX:153577197..153609577 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000117.2(EMD):c.101dup (p.Tyr34Ter) duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000755015] ChrX:154379707..154379708 [GRCh38]
ChrX:153608067..153608068 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153609141-153626892)x2 copy number gain not provided [RCV000753935] ChrX:153609141..153626892 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153609141-153627145)x2 copy number gain not provided [RCV000753936] ChrX:153609141..153627145 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000117.2(EMD):c.16del (p.Asp6fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000754753] ChrX:154379500 [GRCh38]
ChrX:153607860 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000117.3(EMD):c.639T>C (p.Pro213=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000877348] ChrX:154381071 [GRCh38]
ChrX:153609431 [GRCh37]
ChrX:Xq28
benign
NM_000117.3(EMD):c.306C>T (p.Thr102=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000870764] ChrX:154380274 [GRCh38]
ChrX:153608634 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.132G>A (p.Gln44=) single nucleotide variant not provided [RCV000877567] ChrX:154379739 [GRCh38]
ChrX:153608099 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.330T>G (p.Ser110=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000983217] ChrX:154380298 [GRCh38]
ChrX:153608658 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.153C>T (p.Pro51=) single nucleotide variant not provided [RCV000944220] ChrX:154379760 [GRCh38]
ChrX:153608120 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.153C>A (p.Pro51=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000943189]|Emery-Dreifuss muscular dystrophy [RCV001279589] ChrX:154379760 [GRCh38]
ChrX:153608120 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.136C>T (p.Arg46Trp) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001071300] ChrX:154379743 [GRCh38]
ChrX:153608103 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153174571-153609996) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000767661] ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000117.3(EMD):c.361G>A (p.Val121Met) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001049930] ChrX:154380329 [GRCh38]
ChrX:153608689 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000117.2(EMD):c.427_429delTCT microsatellite Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000807698] ChrX:154380774..154380776 [GRCh38]
ChrX:153609134..153609136 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.276C>T (p.Asp92=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000862711]|not specified [RCV000780222] ChrX:154380244 [GRCh38]
ChrX:153608604 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NC_000023.10:g.(?_153577207)_(153609567_?)dup duplication Periventricular nodular heterotopia 1 [RCV000811343] ChrX:153577207..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.234G>A (p.Lys78=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000933240] ChrX:154379988 [GRCh38]
ChrX:153608348 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.697C>T (p.Leu233=) single nucleotide variant not provided [RCV000975690] ChrX:154381129 [GRCh38]
ChrX:153609489 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.585A>G (p.Ser195=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000865584]|Emery-Dreifuss muscular dystrophy [RCV001279591] ChrX:154381017 [GRCh38]
ChrX:153609377 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.762C>T (p.Phe254=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000938931] ChrX:154381194 [GRCh38]
ChrX:153609554 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.618C>T (p.Ile206=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000863749] ChrX:154381050 [GRCh38]
ChrX:153609410 [GRCh37]
ChrX:Xq28
benign
NM_000117.2(EMD):c.167C>T (p.Ala56Val) single nucleotide variant Cardiomyopathy [RCV000770587] ChrX:154379774 [GRCh38]
ChrX:153608134 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.759C>G (p.Pro253=) single nucleotide variant Cardiomyopathy [RCV000770593] ChrX:154381191 [GRCh38]
ChrX:153609551 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153577207)_(153650075_?)dup duplication Periventricular nodular heterotopia 1 [RCV000816614] ChrX:153577207..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.459C>T (p.Pro153=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001086059]|not provided [RCV000840171] ChrX:154380891 [GRCh38]
ChrX:153609251 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.503G>A (p.Arg168His) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000820254] ChrX:154380935 [GRCh38]
ChrX:153609295 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.620G>C (p.Arg207Pro) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000817065] ChrX:154381052 [GRCh38]
ChrX:153609412 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.2(EMD):c.717_718delCT microsatellite Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000818656] ChrX:154381147..154381148 [GRCh38]
ChrX:153609507..153609508 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153587342)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000815278] ChrX:153587342..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.2(EMD):c.188-52G>A single nucleotide variant not provided [RCV000835261] ChrX:154379890 [GRCh38]
ChrX:153608250 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.2(EMD):c.412G>A (p.Asp138Asn) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000814360] ChrX:154380765 [GRCh38]
ChrX:153609125 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000117.3(EMD):c.265+2T>A single nucleotide variant Primary familial dilated cardiomyopathy [RCV000845433] ChrX:154380021 [GRCh38]
ChrX:153608381 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000117.3(EMD):c.180C>G (p.Ser60Arg) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001205342] ChrX:154379787 [GRCh38]
ChrX:153608147 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.651G>A (p.Leu217=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001228320] ChrX:154381083 [GRCh38]
ChrX:153609443 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.192G>C (p.Leu64Phe) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001221567] ChrX:154379946 [GRCh38]
ChrX:153608306 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.575C>T (p.Ser192Phe) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001240878] ChrX:154381007 [GRCh38]
ChrX:153609367 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.587C>T (p.Ser196Phe) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001241881] ChrX:154381019 [GRCh38]
ChrX:153609379 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153255132-153636707)x3 copy number gain not provided [RCV000847428] ChrX:153255132..153636707 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000117.3(EMD):c.352C>T (p.Arg118Cys) single nucleotide variant Cardiomyopathy [RCV000852583] ChrX:154380320 [GRCh38]
ChrX:153608680 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000991009] ChrX:154379496 [GRCh38]
ChrX:153607856 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.619del (p.Arg207fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001212666] ChrX:154381050 [GRCh38]
ChrX:153609410 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.118G>C (p.Glu40Gln) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001212098] ChrX:154379725 [GRCh38]
ChrX:153608085 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.330T>A (p.Ser110=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000923142] ChrX:154380298 [GRCh38]
ChrX:153608658 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.582A>C (p.Ser194=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000975849]|Emery-Dreifuss muscular dystrophy [RCV001271617] ChrX:154381014 [GRCh38]
ChrX:153609374 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.384C>T (p.Asp128=) single nucleotide variant not provided [RCV000863079] ChrX:154380352 [GRCh38]
ChrX:153608712 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.714C>T (p.Val238=) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000922075] ChrX:154381146 [GRCh38]
ChrX:153609506 [GRCh37]
ChrX:Xq28
likely benign
NM_000117.3(EMD):c.425C>T (p.Ser142Phe) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001245248] ChrX:154380778 [GRCh38]
ChrX:153609138 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001241050] ChrX:154381013 [GRCh38]
ChrX:153609373 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153577207)_(153642537_?)dup duplication Periventricular nodular heterotopia 1 [RCV001031667] ChrX:153577207..153642537 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.684GCT[2] (p.Leu231del) microsatellite Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001227869] ChrX:154381116..154381118 [GRCh38]
ChrX:153609476..153609478 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.77dup (p.Val27fs) duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001065164] ChrX:154379560..154379561 [GRCh38]
ChrX:153607920..153607921 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.475_476del (p.Ser159fs) deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001041051] ChrX:154380907..154380908 [GRCh38]
ChrX:153609267..153609268 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro) indel Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001035062] ChrX:154379552..154379553 [GRCh38]
ChrX:153607912..153607913 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.399+10C>T single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001044139] ChrX:154380377 [GRCh38]
ChrX:153608737 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.83-2A>C single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001063271] ChrX:154379688 [GRCh38]
ChrX:153608048 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.725T>G (p.Ile242Ser) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001218138] ChrX:154381157 [GRCh38]
ChrX:153609517 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000117.3(EMD):c.413A>G (p.Asp138Gly) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001037719] ChrX:154380766 [GRCh38]
ChrX:153609126 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.712G>A (p.Val238Ile) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001038773] ChrX:154381144 [GRCh38]
ChrX:153609504 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153609093)_(153609182_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031299] ChrX:153609093..153609182 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.175_176TA[1] (p.Tyr59_Ser60delinsTer) microsatellite not provided [RCV001091833] ChrX:154379782..154379783 [GRCh38]
ChrX:153608142..153608143 [GRCh37]
ChrX:Xq28
pathogenic
NM_000117.3(EMD):c.271A>G (p.Asn91Asp) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001042030] ChrX:154380239 [GRCh38]
ChrX:153608599 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.82+1G>A single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001251168] ChrX:154379567 [GRCh38]
ChrX:153607927 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000117.3(EMD):c.19C>T (p.Leu7Phe) single nucleotide variant Dilated cardiomyopathy 1A [RCV001256947] ChrX:154379503 [GRCh38]
ChrX:153607863 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV001313748] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000117.3(EMD):c.74C>T (p.Pro25Leu) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001327918] ChrX:154379558 [GRCh38]
ChrX:153607918 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.593C>T (p.Ser198Phe) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001316452] ChrX:154381025 [GRCh38]
ChrX:153609385 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.343A>T (p.Arg115Trp) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001314471] ChrX:154380311 [GRCh38]
ChrX:153608671 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.525C>G (p.Ser175Arg) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001320854] ChrX:154380957 [GRCh38]
ChrX:153609317 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001340013] ChrX:154380974 [GRCh38]
ChrX:153609334 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del) microsatellite Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001308963] ChrX:154381006..154381008 [GRCh38]
ChrX:153609366..153609368 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.572T>C (p.Met191Thr) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001309088] ChrX:154381004 [GRCh38]
ChrX:153609364 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.85T>C (p.Ser29Pro) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001295658] ChrX:154379692 [GRCh38]
ChrX:153608052 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153607835)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001318732] ChrX:153607835..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.242A>G (p.Asp81Gly) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001322086] ChrX:154379996 [GRCh38]
ChrX:153608356 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.490A>C (p.Ile164Leu) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001309518]|Emery-Dreifuss muscular dystrophy [RCV001279590] ChrX:154380922 [GRCh38]
ChrX:153609282 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.728A>C (p.Tyr243Ser) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001298403] ChrX:154381160 [GRCh38]
ChrX:153609520 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.547C>T (p.Pro183Ser) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001341532] ChrX:154380979 [GRCh38]
ChrX:153609339 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.350T>G (p.Val117Gly) single nucleotide variant Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001299618] ChrX:154380318 [GRCh38]
ChrX:153608678 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000117.3(EMD):c.730C>T (p.His244Tyr) single nucleotide variant Emery-Dreifuss muscular dystrophy [RCV001279592] ChrX:154381162 [GRCh38]
ChrX:153609522 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3331 AgrOrtholog
COSMIC EMD COSMIC
Ensembl Genes ENSG00000102119 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358850 UniProtKB/TrEMBL
  ENSP00000358857 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401081 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369835 UniProtKB/TrEMBL
  ENST00000369842 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000428228 UniProtKB/TrEMBL
Gene3D-CATH 1.10.720.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102119 GTEx
HGNC ID HGNC:3331 ENTREZGENE
Human Proteome Map EMD Human Proteome Map
InterPro Emerin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEM/LEM-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEM_emerin UniProtKB/Swiss-Prot
KEGG Report hsa:2010 UniProtKB/Swiss-Prot
NCBI Gene 2010 ENTREZGENE
OMIM 300384 OMIM
  310300 OMIM
PANTHER PTHR15171 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LEM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27766 PharmGKB
PROSITE LEM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LEM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF63451 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt EMD_HUMAN UniProtKB/Swiss-Prot
  F8WEQ1_HUMAN UniProtKB/TrEMBL
  P50402 ENTREZGENE
  Q5HY57_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q6FI02 UniProtKB/Swiss-Prot