EDA (ectodysplasin A) - Rat Genome Database

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Gene: EDA (ectodysplasin A) Homo sapiens
Analyze
Symbol: EDA
Name: ectodysplasin A
RGD ID: 1348155
HGNC Page HGNC
Description: Exhibits death receptor agonist activity and death receptor binding activity. Involved in several processes, including odontogenesis of dentin-containing tooth; positive regulation of NF-kappaB transcription factor activity; and regulation of NIK/NF-kappaB signaling. Localizes to intracellular membrane-bounded organelle and lipid droplet. Implicated in ectodermal dysplasia 1 and tooth agenesis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ECTD1; ectodermal dysplasia protein; ectodysplasin-A; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; oligodontia 1; STHAGX1; TNLG7C; tumor necrosis factor ligand 7C; X-linked anhidroitic ectodermal dysplasia protein; XHED; XLHED
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 EnsemblX69,616,067 - 70,039,472 (+)EnsemblGRCh38hg38GRCh38
GRCh38X69,616,086 - 70,039,472 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X68,835,957 - 69,259,322 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X68,752,636 - 69,176,047 (+)NCBINCBI36hg18NCBI36
Build 34X68,618,931 - 69,042,340NCBI
CeleraX69,189,229 - 69,612,705 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX62,655,756 - 63,080,124 (+)NCBIHuRef
CHM1_1X68,729,282 - 69,152,930 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal oral mucosa morphology  (IAGP)
Absent eyebrow  (IAGP)
Absent eyelashes  (IAGP)
Absent nipple  (IAGP)
Agenesis of lateral incisor  (IAGP)
Agenesis of molar  (IAGP)
Agenesis of premolar  (IAGP)
Anhidrosis  (IAGP)
Anodontia  (IAGP)
Anterior hypopituitarism  (IAGP)
Aplasia of the maxilla  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Aplasia/Hypoplastia of the eccrine sweat glands  (IAGP)
Brittle hair  (IAGP)
Concave nail  (IAGP)
Conical tooth  (IAGP)
Delayed eruption of teeth  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Dry skin  (IAGP)
Dysphonia  (IAGP)
Ectodermal dysplasia  (IAGP)
Eczema  (IAGP)
Everted lower lip vermilion  (IAGP)
Everted upper lip vermilion  (IAGP)
Fever  (IAGP)
Frontal bossing  (IAGP)
Heat intolerance  (IAGP)
Heterogeneous  (IAGP)
Hoarse voice  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypohidrosis  (IAGP)
Hypohidrotic ectodermal dysplasia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic nipples  (IAGP)
Hypoplastic-absent sebaceous glands  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Oligodontia  (IAGP)
Periorbital hyperpigmentation  (IAGP)
Periorbital wrinkles  (IAGP)
Prominent supraorbital ridges  (IAGP)
Respiratory distress  (IAGP)
Rhinitis  (IAGP)
Schizophrenia  (IAGP)
Selective tooth agenesis  (IAGP)
Short chin  (IAGP)
Short distal phalanx of finger  (IAGP)
Short nose  (IAGP)
Soft skin  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse body hair  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Taurodontia  (IAGP)
Thick vermilion border  (IAGP)
Thin skin  (IAGP)
Type I diabetes mellitus  (IAGP)
Underdeveloped nasal alae  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:8554048   PMID:8889548   PMID:9487109   PMID:9507389   PMID:9630076   PMID:9683615   PMID:9736768   PMID:10469321   PMID:10484778   PMID:11035039   PMID:11039935   PMID:11167539  
PMID:11309369   PMID:11378824   PMID:11416205   PMID:11780064   PMID:12270937   PMID:12477932   PMID:12673367   PMID:12682853   PMID:12920369   PMID:12930312   PMID:14656435   PMID:15489334  
PMID:15663448   PMID:15772651   PMID:16423472   PMID:16583127   PMID:16752854   PMID:17102627   PMID:17256800   PMID:17478381   PMID:17970812   PMID:18076698   PMID:18427821   PMID:18545687  
PMID:18633626   PMID:18657636   PMID:18666859   PMID:18688569   PMID:18702659   PMID:18821982   PMID:19127222   PMID:19278982   PMID:19438931   PMID:19504606   PMID:19551394   PMID:19590514  
PMID:19623212   PMID:19657145   PMID:19816326   PMID:20195514   PMID:20236127   PMID:20237496   PMID:20301291   PMID:20486090   PMID:20501644   PMID:20628232   PMID:20979233   PMID:21091672  
PMID:21357618   PMID:21457804   PMID:21724072   PMID:21873635   PMID:21916884   PMID:22004506   PMID:22008666   PMID:22835214   PMID:22875504   PMID:23293949   PMID:23603338   PMID:23625373  
PMID:23626789   PMID:23635427   PMID:23704328   PMID:23744312   PMID:23926003   PMID:24312213   PMID:24503206   PMID:24554542   PMID:24722188   PMID:24985548   PMID:25203534   PMID:25296636  
PMID:25416956   PMID:25438642   PMID:25626993   PMID:25846883   PMID:25910212   PMID:26186194   PMID:26411740   PMID:26634545   PMID:26646413   PMID:26659383   PMID:26753551   PMID:27054699  
PMID:27144394   PMID:28045201   PMID:28052341   PMID:28319085   PMID:28498389   PMID:28514442   PMID:28655773   PMID:28782908   PMID:28813629   PMID:29117863   PMID:29444360   PMID:29676859  
PMID:30117778   PMID:30125999   PMID:30417976   PMID:30526585   PMID:31129666   PMID:31241787   PMID:31376704   PMID:31515488   PMID:31526774   PMID:31652981   PMID:31796081   PMID:32296183  
PMID:32736705  


Genomics

Comparative Map Data
EDA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX69,616,067 - 70,039,472 (+)EnsemblGRCh38hg38GRCh38
GRCh38X69,616,086 - 70,039,472 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X68,835,957 - 69,259,322 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X68,752,636 - 69,176,047 (+)NCBINCBI36hg18NCBI36
Build 34X68,618,931 - 69,042,340NCBI
CeleraX69,189,229 - 69,612,705 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX62,655,756 - 63,080,124 (+)NCBIHuRef
CHM1_1X68,729,282 - 69,152,930 (+)NCBICHM1_1
Eda
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X99,019,212 - 99,444,366 (+)NCBIGRCm39mm39
GRCm39 EnsemblX99,019,212 - 99,444,368 (+)Ensembl
GRCm38X99,975,606 - 100,400,760 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX99,975,606 - 100,400,762 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X97,170,945 - 97,596,099 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X82,816,290 - 83,239,228 (+)NCBImm8
MGSCv36X96,178,325 - 96,603,479 (+)NCBImm8
CeleraX86,912,424 - 87,326,326 (+)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX43.59NCBI
Eda
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X65,078,454 - 65,480,172 (+)NCBI
Rnor_6.0 EnsemblX69,730,242 - 70,220,329 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X69,730,123 - 70,222,693 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X70,602,479 - 71,095,806 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X87,982,303 - 88,390,680 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX65,441,737 - 65,840,991 (+)NCBICelera
Cytogenetic MapXq22NCBI
Eda
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554759,178,234 - 9,588,440 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554759,177,911 - 9,592,150 (+)NCBIChiLan1.0ChiLan1.0
EDA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X68,946,036 - 69,371,175 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X58,881,660 - 59,308,451 (+)NCBIMhudiblu_PPA_v0panPan3
EDA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X54,078,694 - 54,515,535 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX54,078,966 - 54,515,535 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX44,906,268 - 45,341,896 (+)NCBI
ROS_Cfam_1.0X55,046,702 - 55,482,183 (+)NCBI
UMICH_Zoey_3.1X53,014,333 - 53,451,228 (+)NCBI
UNSW_CanFamBas_1.0X54,343,122 - 54,782,021 (+)NCBI
UU_Cfam_GSD_1.0X54,267,090 - 54,709,181 (+)NCBI
Eda
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X47,673,194 - 47,996,323 (-)NCBI
SpeTri2.0NW_0049367771,545,293 - 1,561,109 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EDA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX55,771,240 - 56,103,265 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X55,770,958 - 56,103,296 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X62,968,935 - 63,300,549 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EDA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X59,453,157 - 59,861,555 (+)NCBI
Eda
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462489155,310 - 489,072 (-)NCBI

Position Markers
RH47751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37491,801,992 - 91,802,179UniSTSGRCh37
GRCh37X69,034,400 - 69,034,788UniSTSGRCh37
Build 36X68,951,125 - 68,951,513RGDNCBI36
CeleraX69,387,750 - 69,388,138RGD
Celera489,093,462 - 89,093,649UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic MapXq12-q13.1UniSTS
HuRef487,546,598 - 87,546,785UniSTS
HuRefX62,854,688 - 62,855,076UniSTS
GeneMap99-GB4 RH Map4467.89UniSTS
DXS7625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,323,145 - 109,323,223UniSTSGRCh37
GRCh37X69,163,188 - 69,163,256UniSTSGRCh37
Build 36X69,079,913 - 69,079,981RGDNCBI36
Celera2103,633,125 - 103,633,203UniSTS
CeleraX69,516,568 - 69,516,636RGD
Cytogenetic MapXq12-q13.1UniSTS
Cytogenetic Map2q13UniSTS
HuRef2102,921,615 - 102,921,693UniSTS
HuRefX62,984,120 - 62,984,188UniSTS
RH70680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,080,690 - 69,080,813UniSTSGRCh37
Build 36X68,997,415 - 68,997,538RGDNCBI36
CeleraX69,434,046 - 69,434,169RGD
Cytogenetic MapXq12-q13.1UniSTS
GeneMap99-GB4 RH MapX231.63UniSTS
NCBI RH MapX364.0UniSTS
DXS8270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,881,808 - 68,881,973UniSTSGRCh37
Build 36X68,798,533 - 68,798,698RGDNCBI36
CeleraX69,235,158 - 69,235,323RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,701,626 - 62,701,791UniSTS
RH92962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,259,073 - 69,259,215UniSTSGRCh37
Build 36X69,175,798 - 69,175,940RGDNCBI36
CeleraX69,612,456 - 69,612,598RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX63,079,875 - 63,080,017UniSTS
GeneMap99-GB4 RH MapX231.63UniSTS
DXS106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,878,039 - 68,878,131UniSTSGRCh37
Build 36X68,794,764 - 68,794,856RGDNCBI36
CeleraX69,231,389 - 69,231,481RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,697,857 - 62,697,949UniSTS
DXS7845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,105,394 - 69,105,453UniSTSGRCh37
Build 36X69,022,119 - 69,022,178RGDNCBI36
CeleraX69,458,751 - 69,458,810RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,925,978 - 62,926,037UniSTS
DXS1422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,964,786 - 68,964,939UniSTSGRCh37
Build 36X68,881,511 - 68,881,664RGDNCBI36
CeleraX69,318,146 - 69,318,299RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,785,152 - 62,785,305UniSTS
DXS1325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,910,805 - 68,910,886UniSTSGRCh37
Build 36X68,827,530 - 68,827,611RGDNCBI36
CeleraX69,264,159 - 69,264,240RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,731,042 - 62,731,123UniSTS
DXS7773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,101,107 - 69,101,187UniSTSGRCh37
Build 36X69,017,832 - 69,017,912RGDNCBI36
CeleraX69,454,464 - 69,454,544RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,921,689 - 62,921,769UniSTS
DXS1690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,115,157 - 69,115,293UniSTSGRCh37
Build 36X69,031,882 - 69,032,018RGDNCBI36
CeleraX69,468,550 - 69,468,690RGD
Cytogenetic MapXq12-q13.1UniSTS
DXS1162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,149,504 - 69,149,676UniSTSGRCh37
Build 36X69,066,229 - 69,066,401RGDNCBI36
CeleraX69,502,886 - 69,503,057RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,970,334 - 62,970,498UniSTS
DYS417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,259,181 - 69,259,310UniSTSGRCh37
Build 36X69,175,906 - 69,176,035RGDNCBI36
CeleraX69,612,564 - 69,612,693RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX63,079,983 - 63,080,112UniSTS
WI-10638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,032,977 - 69,033,160UniSTSGRCh37
Build 36X68,949,702 - 68,949,885RGDNCBI36
CeleraX69,386,327 - 69,386,510RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,853,328 - 62,853,511UniSTS
Whitehead-RH MapX174.0UniSTS
PMC24264P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,836,906 - 68,837,026UniSTSGRCh37
Build 36X68,753,631 - 68,753,751RGDNCBI36
CeleraX69,190,224 - 69,190,344RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,656,751 - 62,656,871UniSTS
DXS7791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,072,812 - 69,072,900UniSTSGRCh37
Build 36X68,989,537 - 68,989,625RGDNCBI36
CeleraX69,426,166 - 69,426,254RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,893,327 - 62,893,415UniSTS
DXS8269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,896,202 - 68,896,470UniSTSGRCh37
Build 36X68,812,927 - 68,813,195RGDNCBI36
CeleraX69,249,554 - 69,249,822RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,716,265 - 62,716,533UniSTS
EDA_8319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,258,563 - 69,259,347UniSTSGRCh37
Build 36X69,175,288 - 69,176,072RGDNCBI36
CeleraX69,611,946 - 69,612,730RGD
HuRefX63,079,365 - 63,080,149UniSTS
RH41975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,080,691 - 69,080,819UniSTSGRCh37
Build 36X68,997,416 - 68,997,544RGDNCBI36
CeleraX69,434,047 - 69,434,175RGD
Cytogenetic MapXq12-q13.1UniSTS
GeneMap99-GB4 RH MapX227.37UniSTS
NCBI RH MapX357.3UniSTS
L42647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,181,785 - 69,181,875UniSTSGRCh37
Build 36X69,098,510 - 69,098,600RGDNCBI36
CeleraX69,535,162 - 69,535,252RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX63,002,708 - 63,002,798UniSTS
L78108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,068,687 - 69,068,748UniSTSGRCh37
Build 36X68,985,412 - 68,985,473RGDNCBI36
CeleraX69,422,046 - 69,422,107RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX62,889,204 - 62,889,265UniSTS
G06856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,258,974 - 69,259,307UniSTSGRCh37
Build 36X69,175,699 - 69,176,032RGDNCBI36
CeleraX69,612,357 - 69,612,690RGD
Cytogenetic MapXq12-q13.1UniSTS
HuRefX63,079,776 - 63,080,109UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10031
Count of miRNA genes:1440
Interacting mature miRNAs:1958
Transcripts:ENST00000338901, ENST00000374548, ENST00000374552, ENST00000374553, ENST00000502251, ENST00000503592, ENST00000510681, ENST00000524573, ENST00000525810, ENST00000527388, ENST00000530321, ENST00000533317
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Pita,Targetscan, Rnahybrid, Targetscan
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
Medium 45 31 129 14 3 14 85 46 8 16 95 104 11 11
Low 2283 2316 1441 473 663 314 3991 1881 2958 366 1310 1390 167 1 1193 2547 2 1
Below cutoff 102 638 150 133 839 133 271 265 747 28 52 110 6 230 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF503587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL392090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE892420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ008767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ422683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU608133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA433299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN874327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338901   ⟹   ENSP00000340611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,067 - 69,617,299 (+)Ensembl
RefSeq Acc Id: ENST00000374548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,067 - 69,957,504 (+)Ensembl
RefSeq Acc Id: ENST00000374552   ⟹   ENSP00000363680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,113 - 70,039,472 (+)Ensembl
RefSeq Acc Id: ENST00000374553   ⟹   ENSP00000363681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,067 - 70,039,469 (+)Ensembl
RefSeq Acc Id: ENST00000502251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,067 - 69,957,504 (+)Ensembl
RefSeq Acc Id: ENST00000503592   ⟹   ENSP00000423037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,620,410 - 70,033,410 (+)Ensembl
RefSeq Acc Id: ENST00000510681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,620,429 - 69,861,117 (+)Ensembl
RefSeq Acc Id: ENST00000524573   ⟹   ENSP00000432585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,117 - 70,035,637 (+)Ensembl
RefSeq Acc Id: ENST00000525810   ⟹   ENSP00000434195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,067 - 69,861,061 (+)Ensembl
RefSeq Acc Id: ENST00000527388   ⟹   ENSP00000434861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,067 - 69,861,061 (+)Ensembl
RefSeq Acc Id: ENST00000530321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,620,456 - 69,861,061 (+)Ensembl
RefSeq Acc Id: ENST00000533317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,616,067 - 69,957,477 (+)Ensembl
RefSeq Acc Id: ENST00000616899   ⟹   ENSP00000481963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX69,957,024 - 70,039,469 (+)Ensembl
RefSeq Acc Id: NM_001005609   ⟹   NP_001005609
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,113 - 70,039,472 (+)NCBI
GRCh37X68,835,911 - 69,259,322 (+)ENTREZGENE
Build 36X68,752,636 - 69,176,047 (+)NCBI Archive
HuRefX62,655,756 - 63,080,124 (+)ENTREZGENE
CHM1_1X68,729,282 - 69,152,930 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005610   ⟹   NP_001005610
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,113 - 69,861,117 (+)NCBI
GRCh37X68,835,911 - 69,259,322 (+)ENTREZGENE
Build 36X68,752,636 - 69,094,052 (+)NCBI Archive
HuRefX62,655,756 - 63,080,124 (+)ENTREZGENE
CHM1_1X68,729,282 - 68,974,496 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005612   ⟹   NP_001005612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,113 - 70,039,472 (+)NCBI
GRCh37X68,835,911 - 69,259,322 (+)ENTREZGENE
Build 36X68,752,636 - 69,094,052 (+)NCBI Archive
HuRefX62,655,756 - 63,080,124 (+)ENTREZGENE
CHM1_1X68,729,282 - 69,152,930 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005613   ⟹   NP_001005613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,113 - 69,861,117 (+)NCBI
GRCh37X68,835,911 - 69,259,322 (+)ENTREZGENE
HuRefX62,655,756 - 63,080,124 (+)ENTREZGENE
CHM1_1X68,729,282 - 68,974,496 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001399   ⟹   NP_001390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,113 - 70,039,472 (+)NCBI
GRCh37X68,835,911 - 69,259,322 (+)ENTREZGENE
Build 36X68,752,636 - 69,176,047 (+)NCBI Archive
HuRefX62,655,756 - 63,080,124 (+)ENTREZGENE
CHM1_1X68,729,282 - 69,152,930 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724630   ⟹   XP_006724693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,086 - 70,039,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530885   ⟹   XP_011529187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,086 - 70,035,047 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029336   ⟹   XP_016884825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,086 - 70,039,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029337   ⟹   XP_016884826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,086 - 69,621,937 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755660
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,086 - 69,621,937 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001005609 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005610 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005612 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005613 (Get FASTA)   NCBI Sequence Viewer  
  NP_001390 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724693 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529187 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884825 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884826 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB65831 (Get FASTA)   NCBI Sequence Viewer  
  AAC36302 (Get FASTA)   NCBI Sequence Viewer  
  AAC36303 (Get FASTA)   NCBI Sequence Viewer  
  AAC50678 (Get FASTA)   NCBI Sequence Viewer  
  AAC50679 (Get FASTA)   NCBI Sequence Viewer  
  AAC77363 (Get FASTA)   NCBI Sequence Viewer  
  AAC77371 (Get FASTA)   NCBI Sequence Viewer  
  AAC77372 (Get FASTA)   NCBI Sequence Viewer  
  AAC77373 (Get FASTA)   NCBI Sequence Viewer  
  AAC77374 (Get FASTA)   NCBI Sequence Viewer  
  AAC77375 (Get FASTA)   NCBI Sequence Viewer  
  AAC77376 (Get FASTA)   NCBI Sequence Viewer  
  AAI26144 (Get FASTA)   NCBI Sequence Viewer  
  AAI44050 (Get FASTA)   NCBI Sequence Viewer  
  AAI44052 (Get FASTA)   NCBI Sequence Viewer  
  CTQ86092 (Get FASTA)   NCBI Sequence Viewer  
  EAX05360 (Get FASTA)   NCBI Sequence Viewer  
  EAX05361 (Get FASTA)   NCBI Sequence Viewer  
  EAX05362 (Get FASTA)   NCBI Sequence Viewer  
  Q92838 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001005609   ⟸   NM_001005609
- Peptide Label: isoform 2
- UniProtKB: Q92838 (UniProtKB/Swiss-Prot),   A0A0U5J797 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001390   ⟸   NM_001399
- Peptide Label: isoform 1
- UniProtKB: Q92838 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005612   ⟸   NM_001005612
- Peptide Label: isoform 5
- UniProtKB: Q92838 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005610   ⟸   NM_001005610
- Peptide Label: isoform 3
- UniProtKB: Q92838 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005613   ⟸   NM_001005613
- Peptide Label: isoform 6
- UniProtKB: Q92838 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724693   ⟸   XM_006724630
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529187   ⟸   XM_011530885
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884825   ⟸   XM_017029336
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884826   ⟸   XM_017029337
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000423037   ⟸   ENST00000503592
RefSeq Acc Id: ENSP00000363680   ⟸   ENST00000374552
RefSeq Acc Id: ENSP00000363681   ⟸   ENST00000374553
RefSeq Acc Id: ENSP00000340611   ⟸   ENST00000338901
RefSeq Acc Id: ENSP00000481963   ⟸   ENST00000616899
RefSeq Acc Id: ENSP00000432585   ⟸   ENST00000524573
RefSeq Acc Id: ENSP00000434195   ⟸   ENST00000525810
RefSeq Acc Id: ENSP00000434861   ⟸   ENST00000527388
Protein Domains
Collagen-like   TNF_2

Promoters
RGD ID:6808645
Promoter ID:HG_KWN:67107
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:ENST00000338901,   ENST00000374548,   ENST00000396002,   NM_001005609,   NM_001005612,   NM_001399,   UC004DXM.1,   UC004DXN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X68,752,364 - 68,752,864 (+)MPROMDB
RGD ID:13627359
Promoter ID:EPDNEW_H28955
Type:initiation region
Name:EDA_1
Description:ectodysplasin A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X69,616,115 - 69,616,175EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000023.10:g.(?_69243048)_(69255479_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000553939] ChrX:69243048..69255479 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.646C>T (p.Pro216Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001212052]|not provided [RCV000521166] ChrX:70027976 [GRCh38]
ChrX:69247826 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_001399.5(EDA):c.599dup (p.Gly201fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000548188] ChrX:70027924..70027925 [GRCh38]
ChrX:69247774..69247775 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.970G>A (p.Val324Met) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000555399] ChrX:70035403 [GRCh38]
ChrX:69255253 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs) indel Hypohidrotic X-linked ectodermal dysplasia [RCV000553050] ChrX:70035533 [GRCh38]
ChrX:69255383 [GRCh37]
ChrX:Xq13.1
likely pathogenic
EDA, 36-BP DEL, EX5 deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000011789] ChrX:Xq12-q13.1 pathogenic
EDA, 1-BP DEL, EX6 deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000011790] ChrX:Xq12-q13.1 pathogenic
NM_001399.5(EDA):c.573_574insT (p.Gly192fs) insertion Hypohidrotic X-linked ectodermal dysplasia [RCV000011793] ChrX:70027903..70027904 [GRCh38]
ChrX:69247753..69247754 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.910_911TA[3] (p.Ser305fs) microsatellite Hypohidrotic X-linked ectodermal dysplasia [RCV000011794] ChrX:70033513..70033514 [GRCh38]
ChrX:69253363..69253364 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.479G>A (p.Ser160Asn) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000559389] ChrX:69957109 [GRCh38]
ChrX:69176959 [GRCh37]
ChrX:Xq13.1
uncertain significance
NC_000023.11:g.(?_69616289)_(69616724_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000528754] ChrX:69616289..69616724 [GRCh38]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.593del (p.Gly198fs) deletion not provided [RCV000520012] ChrX:70027921 [GRCh38]
ChrX:69247771 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.476G>C (p.Arg159Thr) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000544580] ChrX:69957106 [GRCh38]
ChrX:69176956 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) single nucleotide variant Ectodermal dysplasia [RCV000626808]|Hypohidrotic X-linked ectodermal dysplasia [RCV000024599] ChrX:70033430 [GRCh38]
ChrX:69253280 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.181T>C (p.Tyr61His) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011778]|Hypohidrotic X-linked ectodermal dysplasia [RCV000763629] ChrX:69616489 [GRCh38]
ChrX:68836333 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011779]|none provided [RCV001282247]|not provided [RCV000432524]|not specified [RCV000218834] ChrX:69616514 [GRCh38]
ChrX:68836358 [GRCh37]
ChrX:Xq13.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001399.5(EDA):c.67C>T (p.Gln23Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011780] ChrX:69616375 [GRCh38]
ChrX:68836219 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.187G>A (p.Glu63Lys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011781] ChrX:69616495 [GRCh38]
ChrX:68836339 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011782]|Hypohidrotic X-linked ectodermal dysplasia [RCV000763630]|not provided [RCV000254983] ChrX:69957093 [GRCh38]
ChrX:69176943 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011783]|not provided [RCV000414306] ChrX:69957096 [GRCh38]
ChrX:69176946 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011785]|not specified [RCV000154610] ChrX:70027956 [GRCh38]
ChrX:69247806 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|uncertain significance
NM_001399.5(EDA):c.671G>C (p.Gly224Ala) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011786] ChrX:70028001 [GRCh38]
ChrX:69247851 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011787]|not provided [RCV000255050] ChrX:70035478 [GRCh38]
ChrX:69255328 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000011788] ChrX:69616491 [GRCh38]
ChrX:68836335 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.193C>G (p.Arg65Gly) single nucleotide variant Tooth agenesis, selective, X-linked, 1 [RCV000011791] ChrX:69616501 [GRCh38]
ChrX:68836345 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.1072C>G (p.Gln358Glu) single nucleotide variant Tooth agenesis, selective, X-linked, 1 [RCV000011792] ChrX:70035505 [GRCh38]
ChrX:69255355 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.1013C>T (p.Thr338Met) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001205829]|Tooth agenesis, selective, X-linked, 1 [RCV000011795] ChrX:70035446 [GRCh38]
ChrX:69255296 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.467G>A (p.Arg156His) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000032612]|not provided [RCV000255365] ChrX:69957097 [GRCh38]
ChrX:69176947 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.1070G>C (p.Arg357Pro) single nucleotide variant not specified [RCV000037159] ChrX:70035503 [GRCh38]
ChrX:69255353 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.1087A>G (p.Lys363Glu) single nucleotide variant not specified [RCV000037160] ChrX:70035520 [GRCh38]
ChrX:69255370 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000542700]|Inborn genetic diseases [RCV000624502]|Partial congenital absence of teeth [RCV000037161] ChrX:70035527 [GRCh38]
ChrX:69255377 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_001399.5(EDA):c.1151G>C (p.Arg384Thr) single nucleotide variant not specified [RCV000037162] ChrX:70035584 [GRCh38]
ChrX:69255434 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.164T>A (p.Leu55Gln) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037164] ChrX:69616472 [GRCh38]
ChrX:68836316 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.173_175del (p.Leu58del) deletion Inborn genetic diseases [RCV000622517]|not specified [RCV000037165] ChrX:69616479..69616481 [GRCh38]
ChrX:68836323..68836325 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.2T>C (p.Met1Thr) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037166]|not provided [RCV000255907] ChrX:69616310 [GRCh38]
ChrX:68836154 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.329C>A (p.Ser110Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037167] ChrX:69616637 [GRCh38]
ChrX:68836481 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.347T>A (p.Leu116Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037168] ChrX:69616655 [GRCh38]
ChrX:68836499 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000592238]|not provided [RCV000420111] ChrX:69957087 [GRCh38]
ChrX:69176937 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_001399.5(EDA):c.467G>T (p.Arg156Leu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037172] ChrX:69957097 [GRCh38]
ChrX:69176947 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000990855]|not specified [RCV000037173] ChrX:69957121 [GRCh38]
ChrX:69176971 [GRCh37]
ChrX:Xq13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001399.5(EDA):c.526+5G>T single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037174] ChrX:70023246 [GRCh38]
ChrX:69243096 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000694688] ChrX:70027866..70027901 [GRCh38]
ChrX:69247726..69247761 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000037176] ChrX:70027877..70027912 [GRCh38]
ChrX:69247733..69247768 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.562_589del (p.Pro188fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000037177] ChrX:70027892..70027919 [GRCh38]
ChrX:69247742..69247769 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000633503]|not provided [RCV000481357] ChrX:70027889..70027906 [GRCh38]
ChrX:69247752..69247769 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.599C>A (p.Pro200Gln) single nucleotide variant not specified [RCV000037179] ChrX:70027929 [GRCh38]
ChrX:69247779 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.663_697del (p.Pro222fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000551802]|not provided [RCV000255942] ChrX:70027985..70028019 [GRCh38]
ChrX:69247843..69247877 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037181] ChrX:70027937 [GRCh38]
ChrX:69247787 [GRCh37]
ChrX:Xq13.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_001399.5(EDA):c.706+11_706+12del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV001276386]|not specified [RCV000037182] ChrX:70028047..70028048 [GRCh38]
ChrX:69247897..69247898 [GRCh37]
ChrX:Xq13.1
benign
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037183]|not provided [RCV000255016] ChrX:70029527 [GRCh38]
ChrX:69249377 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.740A>G (p.Gln247Arg) single nucleotide variant not specified [RCV000037184] ChrX:70029537 [GRCh38]
ChrX:69249387 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.742-11C>T single nucleotide variant not specified [RCV000037185] ChrX:70030458 [GRCh38]
ChrX:69250308 [GRCh37]
ChrX:Xq13.1
benign
NM_001399.5(EDA):c.793G>A (p.Asp265Asn) single nucleotide variant not specified [RCV000037186] ChrX:70030520 [GRCh38]
ChrX:69250370 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.822G>T (p.Trp274Cys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037187] ChrX:70033426 [GRCh38]
ChrX:69253276 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.822del (p.Trp274fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000037188] ChrX:70033425 [GRCh38]
ChrX:69253275 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037189]|not provided [RCV000256153] ChrX:70033475 [GRCh38]
ChrX:69253325 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.881A>T (p.Glu294Val) single nucleotide variant not specified [RCV000037190] ChrX:70033485 [GRCh38]
ChrX:69253335 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037191] ChrX:70033499 [GRCh38]
ChrX:69253349 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037193] ChrX:70033506 [GRCh38]
ChrX:69253356 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.961G>T (p.Glu321Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000037194] ChrX:70035394 [GRCh38]
ChrX:69255244 [GRCh37]
ChrX:Xq13.1
pathogenic
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 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 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 Xq13.1(chrX:69880987-70415042)x3 copy number gain See cases [RCV000051136] ChrX:69880987..70415042 [GRCh38]
ChrX:69100823..69634892 [GRCh37]
ChrX:69017548..69551617 [NCBI36]
ChrX:Xq13.1
uncertain significance
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 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 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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
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
NM_001399.5(EDA):c.396+2T>C single nucleotide variant not provided [RCV000173251] ChrX:69616706 [GRCh38]
ChrX:68836550 [GRCh37]
ChrX:Xq13.1
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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
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 Xq13.1(chrX:69880987-70512644)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]|See cases [RCV000054209] ChrX:69880987..70512644 [GRCh38]
ChrX:69100823..69732494 [GRCh37]
ChrX:69017548..69649219 [NCBI36]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.272dup (p.Ser91fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000037163] ChrX:69616579..69616580 [GRCh38]
ChrX:68836423..68836424 [GRCh37]
ChrX:Xq13.1
pathogenic
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
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 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
NM_001399.5(EDA):c.956G>T (p.Ser319Ile) single nucleotide variant Tooth agenesis, selective, X-linked, 1 [RCV000128525] ChrX:70035389 [GRCh38]
ChrX:69255239 [GRCh37]
ChrX:Xq13.1
not provided
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 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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 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 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 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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
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 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
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 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-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
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 Xq13.1(chrX:69789628-69822584)x1 copy number loss See cases [RCV000140548] ChrX:69789628..69822584 [GRCh38]
ChrX:69009472..69042428 [GRCh37]
ChrX:68926197..68959153 [NCBI36]
ChrX:Xq13.1
likely benign
GRCh38/hg38 Xq13.1(chrX:69987949-70082820)x4 copy number gain See cases [RCV000140232] ChrX:69987949..70082820 [GRCh38]
ChrX:69207799..69302670 [GRCh37]
ChrX:69124524..69219395 [NCBI36]
ChrX:Xq13.1
uncertain significance
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 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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq13.1(chrX:69839596-70301821)x1 copy number loss See cases [RCV000142507] ChrX:69839596..70301821 [GRCh38]
ChrX:69059438..69521671 [GRCh37]
ChrX:68976163..69438396 [NCBI36]
ChrX:Xq13.1
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq13.1(chrX:69991690-70536572)x2 copy number gain See cases [RCV000143093] ChrX:69991690..70536572 [GRCh38]
ChrX:69211540..69756422 [GRCh37]
ChrX:69128265..69673147 [NCBI36]
ChrX:Xq13.1
uncertain significance
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 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
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_001399.5(EDA):c.474A>C (p.Lys158Asn) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000155912] ChrX:69957104 [GRCh38]
ChrX:69176954 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000796602]|not specified [RCV000156051] ChrX:70033398 [GRCh38]
ChrX:69253248 [GRCh37]
ChrX:Xq13.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001399.5(EDA):c.742-14T>G single nucleotide variant not specified [RCV000156072] ChrX:70030455 [GRCh38]
ChrX:69250305 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.676C>T (p.Gln226Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000150598] ChrX:70028006 [GRCh38]
ChrX:69247856 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.809del (p.Val270fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000150599] ChrX:70033413 [GRCh38]
ChrX:69253263 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.822G>A (p.Trp274Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000150600] ChrX:70033426 [GRCh38]
ChrX:69253276 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.917A>T (p.Gln306Leu) single nucleotide variant not specified [RCV000150604] ChrX:70033521 [GRCh38]
ChrX:69253371 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.948del (p.Phe317fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000150605] ChrX:70035381 [GRCh38]
ChrX:69255231 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.991C>T (p.Gln331Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000150607] ChrX:70035424 [GRCh38]
ChrX:69255274 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.4(EDA):c.(?_397)_(502_?)del (p.(?)) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000156114] ChrX:69957027..69957132 [GRCh38]
ChrX:69176877..69176982 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.4(EDA):c.(?_925)_(1176_?)del (p.(?)) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000156115] ChrX:70035358..70035609 [GRCh38]
ChrX:69255208..69255459 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.396+2T>G single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000156149] ChrX:69616706 [GRCh38]
ChrX:68836550 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.742-18T>G single nucleotide variant not specified [RCV000156226] ChrX:70030451 [GRCh38]
ChrX:69250301 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.502+1G>A single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000156436] ChrX:69957133 [GRCh38]
ChrX:69176983 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.132_135dup (p.Phe46fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000156531] ChrX:69616438..69616439 [GRCh38]
ChrX:68836282..68836283 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.201G>T (p.Glu67Asp) single nucleotide variant not specified [RCV000156631] ChrX:69616509 [GRCh38]
ChrX:68836353 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.766C>T (p.Gln256Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000686194] ChrX:70030493 [GRCh38]
ChrX:69250343 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000156854] ChrX:69956687..69957126 [GRCh38]
ChrX:69176537..69176976 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_001399.4(EDA):c.(?_-115)_(174_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000156918] ChrX:69616194..69616482 [GRCh38]
ChrX:68836038..68836326 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.4(EDA):c.(?_397-304)_(460_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000150589] ChrX:69956723..69957090 [GRCh38]
ChrX:69176573..69176940 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.4(EDA):c.(?_503)-88_(1176_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000150590] ChrX:70023130..70035609 [GRCh38]
ChrX:69242980..69255459 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.396+1G>A single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000155689] ChrX:69616705 [GRCh38]
ChrX:68836549 [GRCh37]
ChrX:Xq13.1
pathogenic
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
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 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_001399.5(EDA):c.1069C>T (p.Arg357Trp) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000532383]|not provided [RCV000255432] ChrX:70035502 [GRCh38]
ChrX:69255352 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_001399.5(EDA):c.707-1G>A single nucleotide variant not provided [RCV000255473] ChrX:70029503 [GRCh38]
ChrX:69249353 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs) indel Hypohidrotic X-linked ectodermal dysplasia [RCV000552186] ChrX:69616536..69616542 [GRCh38]
ChrX:68836380..68836386 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000402007]|not provided [RCV000725905] ChrX:70027979..70027996 [GRCh38]
ChrX:69247839..69247856 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000222108] ChrX:70035393 [GRCh38]
ChrX:69255243 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.319_322dup (p.Gln108fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000213343] ChrX:69616626..69616627 [GRCh38]
ChrX:68836470..68836471 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000213703]|not provided [RCV000479152] ChrX:70027973..70028008 [GRCh38]
ChrX:69247828..69247863 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.4(EDA):c.(?_707)_(741_?)del (p.(?)) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000213782] ChrX:70029504..70029538 [GRCh38]
ChrX:69249354..69249388 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.477A>T (p.Arg159Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000218495] ChrX:69957107 [GRCh38]
ChrX:69176957 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000809933] ChrX:70035500 [GRCh38]
ChrX:69255350 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000214953] ChrX:70033515 [GRCh38]
ChrX:69253365 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.866G>A (p.Arg289His) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001054886]|Hypohidrotic X-linked ectodermal dysplasia [RCV001248822]|Partial congenital absence of teeth [RCV000223248] ChrX:70033470 [GRCh38]
ChrX:69253320 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_001399.5(EDA):c.1001G>C (p.Arg334Pro) single nucleotide variant not specified [RCV000223353] ChrX:70035434 [GRCh38]
ChrX:69255284 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.527-6T>G single nucleotide variant not specified [RCV000215203] ChrX:70027851 [GRCh38]
ChrX:69247701 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.252del (p.Gly85fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000821716]|not provided [RCV000757206] ChrX:69616560 [GRCh38]
ChrX:68836404 [GRCh37]
ChrX:Xq13.1
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 Xq12-13.1(chrX:64927267-69276852)x3 copy number gain See cases [RCV000239973] ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
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 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
NM_001399.5(EDA):c.776C>A (p.Ala259Glu) single nucleotide variant Tooth agenesis, selective, X-linked, 1 [RCV000239463] ChrX:70030503 [GRCh38]
ChrX:69250353 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.755A>T (p.His252Leu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000239466] ChrX:70030482 [GRCh38]
ChrX:69250332 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000692210]|Tooth agenesis, selective, X-linked, 1 [RCV000239506] ChrX:70033469 [GRCh38]
ChrX:69253319 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_001399.5(EDA):c.1001G>A (p.Arg334His) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000864637]|Tooth agenesis, selective, X-linked, 1 [RCV000239557] ChrX:70035434 [GRCh38]
ChrX:69255284 [GRCh37]
ChrX:Xq13.1
pathogenic|benign|conflicting interpretations of pathogenicity
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
NM_001399.5(EDA):c.706+1G>A single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000525670]|not provided [RCV000256169] ChrX:70028037 [GRCh38]
ChrX:69247887 [GRCh37]
ChrX:Xq13.1
pathogenic|likely 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
NM_001399.5(EDA):c.381C>T (p.Ser127=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000864856]|not specified [RCV000242422] ChrX:69616689 [GRCh38]
ChrX:68836533 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1(chrX:69250807-69256658)x1 copy number loss See cases [RCV000240590] ChrX:69250807..69256658 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.872G>A (p.Gly291Glu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001347864]|not provided [RCV000378927] ChrX:70033476 [GRCh38]
ChrX:69253326 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_001399.5(EDA):c.741G>T (p.Gln247His) single nucleotide variant not provided [RCV000368754] ChrX:70029538 [GRCh38]
ChrX:69249388 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.931T>C (p.Tyr311His) single nucleotide variant not provided [RCV000489664] ChrX:70035364 [GRCh38]
ChrX:69255214 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001399.5(EDA):c.390del (p.His131fs) deletion not provided [RCV000598642] ChrX:69616696 [GRCh38]
ChrX:68836540 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.958_1005del (p.Tyr320_Ser335del) deletion not provided [RCV000599077] ChrX:70035387..70035434 [GRCh38]
ChrX:69255237..69255284 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs) indel Hypohidrotic X-linked ectodermal dysplasia [RCV000530627] ChrX:70023236..70023237 [GRCh38]
ChrX:69243086..69243087 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.628G>T (p.Gly210Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000536911] ChrX:70027958 [GRCh38]
ChrX:69247808 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.827G>T (p.Arg276Leu) single nucleotide variant not provided [RCV000413141] ChrX:70033431 [GRCh38]
ChrX:69253281 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.1123A>G (p.Lys375Glu) single nucleotide variant not provided [RCV000413158] ChrX:70035556 [GRCh38]
ChrX:69255406 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.769G>C (p.Gly257Arg) single nucleotide variant not provided [RCV000413515] ChrX:70030496 [GRCh38]
ChrX:69250346 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.245del (p.Gly82fs) deletion not provided [RCV000413757] ChrX:69616551 [GRCh38]
ChrX:68836395 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.932A>C (p.Tyr311Ser) single nucleotide variant not provided [RCV000414008] ChrX:70035365 [GRCh38]
ChrX:69255215 [GRCh37]
ChrX:Xq13.1
likely pathogenic
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 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 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 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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_001399.5(EDA):c.494G>C (p.Gly165Ala) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000822954]|not provided [RCV000432953] ChrX:69957124 [GRCh38]
ChrX:69176974 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_001399.5(EDA):c.617C>T (p.Pro206Leu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000526582]|not provided [RCV000439320] ChrX:70027947 [GRCh38]
ChrX:69247797 [GRCh37]
ChrX:Xq13.1
pathogenic|likely 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 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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr) single nucleotide variant not provided [RCV000480786] ChrX:70035577 [GRCh38]
ChrX:69255427 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.764G>A (p.Gly255Asp) single nucleotide variant not provided [RCV000480945] ChrX:70030491 [GRCh38]
ChrX:69250341 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.923A>G (p.Glu308Gly) single nucleotide variant not provided [RCV000483933] ChrX:70033527 [GRCh38]
ChrX:69253377 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.917A>G (p.Gln306Arg) single nucleotide variant not provided [RCV000478625] ChrX:70033521 [GRCh38]
ChrX:69253371 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.1137C>A (p.Phe379Leu) single nucleotide variant not provided [RCV000486913] ChrX:70035570 [GRCh38]
ChrX:69255420 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000805136]|not provided [RCV000487168] ChrX:70027931..70027948 [GRCh38]
ChrX:69247781..69247798 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
GRCh37/hg19 Xq13.1(chrX:68674333-69197209)x3 copy number gain See cases [RCV000510532] ChrX:68674333..69197209 [GRCh37]
ChrX:Xq13.1
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001399.5(EDA):c.922G>T (p.Glu308Ter) single nucleotide variant not provided [RCV000493660] ChrX:70033526 [GRCh38]
ChrX:69253376 [GRCh37]
ChrX:Xq13.1
pathogenic
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq13.1(chrX:68903474-69583031)x3 copy number gain See cases [RCV000511184] ChrX:68903474..69583031 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.180C>A (p.Cys60Ter) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000494692] ChrX:69616488 [GRCh38]
ChrX:68836332 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.941T>C (p.Phe314Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000633504]|Inborn genetic diseases [RCV001266104] ChrX:70035374 [GRCh38]
ChrX:69255224 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.301C>T (p.Pro101Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000633509] ChrX:69616609 [GRCh38]
ChrX:68836453 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.1070G>A (p.Arg357Gln) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000633510] ChrX:70035503 [GRCh38]
ChrX:69255353 [GRCh37]
ChrX:Xq13.1
benign
NC_000023.10:g.(?_69080668)_(69177002_?)dup duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000539041] ChrX:69080668..69177002 [GRCh37]
ChrX:Xq13.1
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001399.5(EDA):c.681_697del (p.Pro228fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000633501] ChrX:70028008..70028024 [GRCh38]
ChrX:69247858..69247874 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.239dup (p.Ser81fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000633502] ChrX:69616545..69616546 [GRCh38]
ChrX:68836389..68836390 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.853A>G (p.Lys285Glu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000633506] ChrX:70033457 [GRCh38]
ChrX:69253307 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.613A>T (p.Ile205Phe) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000633507] ChrX:70027943 [GRCh38]
ChrX:69247793 [GRCh37]
ChrX:Xq13.1
uncertain significance
NC_000023.10:g.(?_68836133)_(69255479_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000633511] ChrX:68836133..69255479 [GRCh37]
ChrX:Xq13.1
pathogenic
NC_000023.11:g.(?_69616289)_(69670280_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000633512] ChrX:69616289..69670280 [GRCh38]
ChrX:68836133..68890124 [GRCh37]
ChrX:Xq13.1
pathogenic
NC_000023.10:g.(?_68890034)_(69177002_?)dup duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000633513] ChrX:68890034..69177002 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.560dup (p.Pro188fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000537831] ChrX:70027887..70027888 [GRCh38]
ChrX:69247737..69247738 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.814A>G (p.Asn272Asp) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000540530] ChrX:70033418 [GRCh38]
ChrX:69253268 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.1127A>G (p.His376Arg) single nucleotide variant not specified [RCV000610250] ChrX:70035560 [GRCh38]
ChrX:69255410 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.998C>G (p.Thr333Arg) single nucleotide variant not provided [RCV000524024] ChrX:70035431 [GRCh38]
ChrX:69255281 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_001399.5(EDA):c.741G>A (p.Gln247=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000633505] ChrX:70029538 [GRCh38]
ChrX:69249388 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xq13.1(chrX:69013432-69431334)x1 copy number loss not provided [RCV000684344] ChrX:69013432..69431334 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.641T>A (p.Met214Lys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000701321] ChrX:70027971 [GRCh38]
ChrX:69247821 [GRCh37]
ChrX:Xq13.1
likely pathogenic|uncertain significance
NM_001399.5(EDA):c.1133C>T (p.Thr378Met) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000707398] ChrX:70035566 [GRCh38]
ChrX:69255416 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.97C>T (p.Arg33Trp) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000707582] ChrX:69616405 [GRCh38]
ChrX:68836249 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.526+5G>A single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000705031] ChrX:70023246 [GRCh38]
ChrX:69243096 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.1106T>A (p.Ile369Asn) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000689230] ChrX:70035539 [GRCh38]
ChrX:69255389 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.527-2A>T single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000689256] ChrX:70027855 [GRCh38]
ChrX:69247705 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.242C>T (p.Ser81Leu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000698298] ChrX:69616550 [GRCh38]
ChrX:68836394 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.459dup (p.Val154fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000690283] ChrX:69957088..69957089 [GRCh38]
ChrX:69176938..69176939 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.167T>A (p.Leu56Gln) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000690311] ChrX:69616475 [GRCh38]
ChrX:68836319 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.396+4dup duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000697029] ChrX:69616707..69616708 [GRCh38]
ChrX:68836551..68836552 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.986T>C (p.Phe329Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000706370] ChrX:70035419 [GRCh38]
ChrX:69255269 [GRCh37]
ChrX:Xq13.1
uncertain significance
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 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001399.5(EDA):c.458G>A (p.Arg153His) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000990854] ChrX:69957088 [GRCh38]
ChrX:69176938 [GRCh37]
ChrX:Xq13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001399.5(EDA):c.161A>T (p.His54Leu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000761232] ChrX:69616469 [GRCh38]
ChrX:68836313 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000990857] ChrX:70035575 [GRCh38]
ChrX:69255425 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NC_000023.11:g.(?_69957007)_(69957152_?)dup duplication Hypohidrotic X-linked ectodermal dysplasia [RCV001031109] ChrX:69176857..69177002 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.894C>T (p.Asp298=) single nucleotide variant not provided [RCV000975331] ChrX:70033498 [GRCh38]
ChrX:69253348 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001399.5(EDA):c.1104C>T (p.Asp368=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000877695] ChrX:70035537 [GRCh38]
ChrX:69255387 [GRCh37]
ChrX:Xq13.1
benign
NM_001399.5(EDA):c.1014G>A (p.Thr338=) single nucleotide variant not provided [RCV000882560] ChrX:70035447 [GRCh38]
ChrX:69255297 [GRCh37]
ChrX:Xq13.1
benign
NM_001399.5(EDA):c.318T>C (p.Leu106=) single nucleotide variant not provided [RCV000899333] ChrX:69616626 [GRCh38]
ChrX:68836470 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000949205] ChrX:70035601 [GRCh38]
ChrX:69255451 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001399.5(EDA):c.804T>C (p.Gly268=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000928360] ChrX:70033408 [GRCh38]
ChrX:69253258 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001399.5(EDA):c.608C>T (p.Pro203Leu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001053348] ChrX:70027938 [GRCh38]
ChrX:69247788 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.396+5G>C single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001058930] ChrX:69616709 [GRCh38]
ChrX:68836553 [GRCh37]
ChrX:Xq13.1
uncertain significance
NC_000023.11:g.(?_69957017)_(69957142_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV001032600] ChrX:69176867..69176992 [GRCh37]
ChrX:Xq13.1
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
NC_000023.11:g.(?_69957007)_(69957152_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000817944] ChrX:69957007..69957152 [GRCh38]
ChrX:69176857..69177002 [GRCh37]
ChrX:Xq13.1
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_001399.5(EDA):c.354G>C (p.Pro118=) single nucleotide variant not provided [RCV000944276] ChrX:69616662 [GRCh38]
ChrX:68836506 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001399.5(EDA):c.956G>A (p.Ser319Asn) single nucleotide variant Tooth agenesis, selective, X-linked, 1 [RCV000767532] ChrX:70035389 [GRCh38]
ChrX:69255239 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000802915] ChrX:70035428 [GRCh38]
ChrX:69255278 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NC_000023.11:g.(?_70035338)_(70035629_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000798826] ChrX:70035338..70035629 [GRCh38]
ChrX:69255188..69255479 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.1080C>T (p.Ile360=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000915902] ChrX:70035513 [GRCh38]
ChrX:69255363 [GRCh37]
ChrX:Xq13.1
likely benign
NC_000023.10:g.(?_68890034)_(69177002_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000807929] ChrX:68890034..69177002 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.670G>C (p.Gly224Arg) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000822121] ChrX:70028000 [GRCh38]
ChrX:69247850 [GRCh37]
ChrX:Xq13.1
uncertain significance
NC_000023.10:g.(?_69080668)_(69177002_?)del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000810003] ChrX:69080668..69177002 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xq13.1(chrX:68412592-68896604)x2 copy number gain not provided [RCV000848118] ChrX:68412592..68896604 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000823338] ChrX:70027928..70027954 [GRCh38]
ChrX:69247778..69247804 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000804623] ChrX:70033477..70033494 [GRCh38]
ChrX:69253327..69253344 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_001399.5(EDA):c.706+5G>T single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000810069] ChrX:70028041 [GRCh38]
ChrX:69247891 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.413_416del (p.Phe138fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV001067640] ChrX:69957041..69957044 [GRCh38]
ChrX:69176891..69176894 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000812806] ChrX:69616489 [GRCh38]
ChrX:68836333 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.526+5G>C single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000799606] ChrX:70023246 [GRCh38]
ChrX:69243096 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.599del (p.Pro200fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000807385] ChrX:70027925 [GRCh38]
ChrX:69247775 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.135T>C (p.Gly45=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000938994] ChrX:69616443 [GRCh38]
ChrX:68836287 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001399.5(EDA):c.503-2del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000809260] ChrX:70023216 [GRCh38]
ChrX:69243066 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.628G>C (p.Gly210Arg) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000809567] ChrX:70027958 [GRCh38]
ChrX:69247808 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xq13.1(chrX:68492582-68912098)x3 copy number gain not provided [RCV000848252] ChrX:68492582..68912098 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xq13.1(chrX:69069027-69290373)x2 copy number gain not provided [RCV000849524] ChrX:69069027..69290373 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.148T>G (p.Ser50Ala) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001242590] ChrX:69616456 [GRCh38]
ChrX:68836300 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.901T>G (p.Tyr301Asp) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001224654] ChrX:70033505 [GRCh38]
ChrX:69253355 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.134G>A (p.Gly45Asp) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001230087] ChrX:69616442 [GRCh38]
ChrX:68836286 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.686dup (p.Gly230fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV000852303] ChrX:70028011..70028012 [GRCh38]
ChrX:69247861..69247862 [GRCh37]
ChrX:Xq13.1
pathogenic
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_001399.5(EDA):c.961G>A (p.Glu321Lys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000990856] ChrX:70035394 [GRCh38]
ChrX:69255244 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.526+1del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000995764] ChrX:70023240 [GRCh38]
ChrX:69243090 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.447del (p.Glu150fs) deletion not provided [RCV000995937] ChrX:69957076 [GRCh38]
ChrX:69176926 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.469A>G (p.Asn157Asp) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000955123] ChrX:69957099 [GRCh38]
ChrX:69176949 [GRCh37]
ChrX:Xq13.1
benign
NM_001399.5(EDA):c.870C>T (p.Ser290=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000952222] ChrX:70033474 [GRCh38]
ChrX:69253324 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001399.5(EDA):c.390G>T (p.Gly130=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000952363] ChrX:69616698 [GRCh38]
ChrX:68836542 [GRCh37]
ChrX:Xq13.1
benign
NM_001399.5(EDA):c.464G>A (p.Arg155His) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV000870968] ChrX:69957094 [GRCh38]
ChrX:69176944 [GRCh37]
ChrX:Xq13.1
benign
NM_001399.5(EDA):c.503-4A>C single nucleotide variant not provided [RCV000942666] ChrX:70023214 [GRCh38]
ChrX:69243064 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001237730] ChrX:70035609 [GRCh38]
ChrX:69255459 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.924+5G>A single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001221516] ChrX:70033533 [GRCh38]
ChrX:69253383 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.610G>A (p.Gly204Arg) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001070620] ChrX:70027940 [GRCh38]
ChrX:69247790 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.673_706+2del deletion Hypohidrotic X-linked ectodermal dysplasia [RCV001050766] ChrX:70027998..70028033 [GRCh38]
ChrX:69247848..69247883 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.589del (p.Gln197fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV001051941] ChrX:70027916 [GRCh38]
ChrX:69247766 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.271dup (p.Ser91fs) duplication Hypohidrotic X-linked ectodermal dysplasia [RCV001236250] ChrX:69616577..69616578 [GRCh38]
ChrX:68836421..68836422 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.11del (p.Pro4fs) deletion not provided [RCV001008390] ChrX:69616317 [GRCh38]
ChrX:68836161 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001040957] ChrX:70035549 [GRCh38]
ChrX:69255399 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_001399.5(EDA):c.-36_47del (p.Met1fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV001213126] ChrX:69616271..69616353 [GRCh38]
ChrX:68836115..68836197 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xq13.1(chrX:69218433-69535034)x3 copy number gain not provided [RCV001259002] ChrX:69218433..69535034 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001291628] ChrX:70027950 [GRCh38]
ChrX:69247800 [GRCh37]
ChrX:Xq13.1
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_001399.5(EDA):c.914G>A (p.Ser305Asn) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001348345] ChrX:70033518 [GRCh38]
ChrX:69253368 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.249C>G (p.Thr83=) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001279975] ChrX:69616557 [GRCh38]
ChrX:68836401 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.492del (p.Gly165fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV001291627] ChrX:69957121 [GRCh38]
ChrX:69176971 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001314954] ChrX:70035585 [GRCh38]
ChrX:69255435 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.950T>G (p.Phe317Cys) single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001351638] ChrX:70035383 [GRCh38]
ChrX:69255233 [GRCh37]
ChrX:Xq13.1
uncertain significance
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_001399.5(EDA):c.396+10C>T single nucleotide variant Hypohidrotic X-linked ectodermal dysplasia [RCV001279976] ChrX:69616714 [GRCh38]
ChrX:68836558 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001399.5(EDA):c.866_867delinsAA (p.Arg289Gln) indel Hypohidrotic X-linked ectodermal dysplasia [RCV001325764] ChrX:70033470..70033471 [GRCh38]
ChrX:69253320..69253321 [GRCh37]
ChrX:Xq13.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3157 AgrOrtholog
COSMIC EDA COSMIC
Ensembl Genes ENSG00000158813 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000340611 UniProtKB/Swiss-Prot
  ENSP00000363680 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363681 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423037 UniProtKB/TrEMBL
  ENSP00000432585 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434195 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434861 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481963 UniProtKB/TrEMBL
Ensembl Transcript ENST00000338901 UniProtKB/Swiss-Prot
  ENST00000374552 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374553 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000503592 UniProtKB/TrEMBL
  ENST00000524573 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000525810 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527388 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616899 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158813 GTEx
HGNC ID HGNC:3157 ENTREZGENE
Human Proteome Map EDA Human Proteome Map
InterPro Collagen UniProtKB/TrEMBL
  TNF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1896 UniProtKB/Swiss-Prot
NCBI Gene 1896 ENTREZGENE
OMIM 300451 OMIM
  305100 OMIM
  313500 OMIM
Pfam Collagen UniProtKB/TrEMBL
  TNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27601 PharmGKB
PROSITE TNF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGX3_HUMAN UniProtKB/TrEMBL
  A0A0K0KSD3_HUMAN UniProtKB/TrEMBL
  A0A0U5J797 ENTREZGENE, UniProtKB/TrEMBL
  D6RA95_HUMAN UniProtKB/TrEMBL
  EDA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0AUZ2 UniProtKB/Swiss-Prot
  A2A337 UniProtKB/Swiss-Prot
  B7ZLU2 UniProtKB/Swiss-Prot
  B7ZLU4 UniProtKB/Swiss-Prot
  O75910 UniProtKB/Swiss-Prot
  Q5JS00 UniProtKB/Swiss-Prot
  Q5JUM7 UniProtKB/Swiss-Prot
  Q9UP77 UniProtKB/Swiss-Prot
  Q9Y6L0 UniProtKB/Swiss-Prot
  Q9Y6L1 UniProtKB/Swiss-Prot
  Q9Y6L2 UniProtKB/Swiss-Prot
  Q9Y6L3 UniProtKB/Swiss-Prot
  Q9Y6L4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 EDA  ectodysplasin A  ODT1  oligodontia 1  Data Merged 737654 PROVISIONAL