EDAR (ectodysplasin A receptor) - Rat Genome Database
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Gene: EDAR (ectodysplasin A receptor) Homo sapiens
Analyze
Symbol: EDAR
Name: ectodysplasin A receptor
RGD ID: 1344202
HGNC Page HGNC
Description: Exhibits transmembrane signaling receptor activity. Predicted to be involved in positive regulation of I-kappaB kinase/NF-kappaB signaling and positive regulation of JNK cascade. Predicted to localize to plasma membrane. Implicated in ectodermal dysplasia 10A and ectodermal dysplasia 10B.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: anhidrotic ectodysplasin receptor 1; DL; downless homolog; downless, mouse, homolog of; ECTD10A; ECTD10B; ectodermal dysplasia receptor; ectodysplasin 1, anhidrotic receptor; ectodysplasin-A receptor; ED1R; ED3; ED5; EDA-A1 receptor; EDA-A1R; EDA1R; EDA3; FLJ94390; HRM1; tumor necrosis factor receptor superfamily member EDAR
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 Ensembl2108,894,471 - 108,989,372 (-)EnsemblGRCh38hg38GRCh38
GRCh382108,894,471 - 108,989,256 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372109,510,927 - 109,605,676 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh372109,510,927 - 109,605,828 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362108,877,361 - 108,972,260 (-)NCBINCBI36hg18NCBI36
Build 342108,969,448 - 109,064,346NCBI
Celera2103,820,860 - 103,915,790 (-)NCBI
Cytogenetic Map2q13NCBI
HuRef2103,109,351 - 103,204,259 (-)NCBIHuRef
CHM1_12109,515,194 - 109,610,098 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9375732   PMID:9545409   PMID:11035039   PMID:11039935   PMID:11309369   PMID:11570810   PMID:11780064   PMID:11882293   PMID:11997580   PMID:12270937   PMID:12477932   PMID:14729942  
PMID:15340161   PMID:15489334   PMID:16423472   PMID:16435307   PMID:17501952   PMID:17970812   PMID:18065779   PMID:18231121   PMID:18561327   PMID:18704500   PMID:19438931   PMID:19551394  
PMID:19804850   PMID:19913121   PMID:20033817   PMID:20199431   PMID:20236127   PMID:20237496   PMID:20301291   PMID:20628086   PMID:20979233   PMID:21771270   PMID:21873635   PMID:22032522  
PMID:23210707   PMID:23415220   PMID:24641098   PMID:24752358   PMID:24884697   PMID:26105758   PMID:26336973   PMID:26603699   PMID:27144394   PMID:27487801   PMID:28045201   PMID:28795375  
PMID:28808699   PMID:29676528   PMID:29855541   PMID:30465535   PMID:31245878   PMID:31310406   PMID:31652981   PMID:31796081   PMID:32296183  


Genomics

Comparative Map Data
EDAR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2108,894,471 - 108,989,372 (-)EnsemblGRCh38hg38GRCh38
GRCh382108,894,471 - 108,989,256 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372109,510,927 - 109,605,676 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh372109,510,927 - 109,605,828 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362108,877,361 - 108,972,260 (-)NCBINCBI36hg18NCBI36
Build 342108,969,448 - 109,064,346NCBI
Celera2103,820,860 - 103,915,790 (-)NCBI
Cytogenetic Map2q13NCBI
HuRef2103,109,351 - 103,204,259 (-)NCBIHuRef
CHM1_12109,515,194 - 109,610,098 (-)NCBICHM1_1
Edar
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391058,436,602 - 58,511,518 (-)NCBIGRCm39mm39
GRCm381058,600,780 - 58,675,696 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1058,600,789 - 58,675,654 (-)EnsemblGRCm38mm10GRCm38
MGSCv371058,063,536 - 58,138,444 (-)NCBIGRCm37mm9NCBIm37
MGSCv361057,996,146 - 58,071,053 (-)NCBImm8
MGSCv361058,582,058 - 58,656,978 (-)NCBImm8
Cytogenetic Map10B4NCBI
cM Map1029.37NCBI
Edar
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22026,587,836 - 26,666,543 (-)NCBI
Rnor_6.0 Ensembl2028,179,140 - 28,263,037 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02028,179,132 - 28,263,092 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02029,996,972 - 30,079,875 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42037,135,534 - 37,164,197 (+)NCBIRGSC3.4rn4RGSC3.4
Celera2028,038,358 - 28,066,702 (-)NCBICelera
Cytogenetic Map20q11NCBI
Edar
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547012,309,048 - 12,362,570 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547012,310,680 - 12,362,555 (-)NCBIChiLan1.0ChiLan1.0
EDAR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A110,146,499 - 110,241,556 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A110,146,499 - 110,234,398 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A95,132,396 - 95,172,218 (-)NCBIMhudiblu_PPA_v0panPan3
EDAR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1034,848,526 - 34,940,784 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11034,873,311 - 34,943,140 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Edar
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936829429,667 - 458,943 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EDAR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl347,396,327 - 47,465,791 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1347,396,303 - 47,466,234 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2349,558,908 - 49,626,194 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EDAR
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11412,430,405 - 12,527,160 (-)NCBI
ChlSab1.1 Ensembl1412,433,418 - 12,468,841 (-)Ensembl
Edar
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474911,981,782 - 11,998,933 (-)NCBI

Position Markers
RH48148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,552,258 - 109,552,402UniSTSGRCh37
Build 362108,918,690 - 108,918,834RGDNCBI36
Celera2103,862,215 - 103,862,359RGD
Cytogenetic Map2q13UniSTS
HuRef2103,150,686 - 103,150,830UniSTS
GeneMap99-GB4 RH Map2390.14UniSTS
RH103303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,511,098 - 109,511,286UniSTSGRCh37
Build 362108,877,530 - 108,877,718RGDNCBI36
Celera2103,821,031 - 103,821,219RGD
Cytogenetic Map2q13UniSTS
HuRef2103,109,522 - 103,109,710UniSTS
GeneMap99-GB4 RH Map2390.14UniSTS
SGC44330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,511,034 - 109,511,302UniSTSGRCh37
Build 362108,877,466 - 108,877,734RGDNCBI36
Celera2103,820,967 - 103,821,235RGD
Cytogenetic Map2q13UniSTS
HuRef2103,109,458 - 103,109,726UniSTS
GeneMap99-GB4 RH Map2388.68UniSTS
Whitehead-RH Map2622.8UniSTS
RH78194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,522,095 - 109,522,226UniSTSGRCh37
Build 362108,888,527 - 108,888,658RGDNCBI36
Celera2103,832,030 - 103,832,161RGD
Cytogenetic Map2q13UniSTS
HuRef2103,120,520 - 103,120,651UniSTS
T02821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,522,126 - 109,522,278UniSTSGRCh37
Build 362108,888,558 - 108,888,710RGDNCBI36
Celera2103,832,061 - 103,832,213RGD
Cytogenetic Map2q13UniSTS
HuRef2103,120,551 - 103,120,703UniSTS
Whitehead-YAC Contig Map2 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4684
Count of miRNA genes:636
Interacting mature miRNAs:706
Transcripts:ENST00000258443, ENST00000376651, ENST00000409271
Prediction methods:Microtar, Miranda, 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 adipose tissue appendage entire extraembryonic component
High
Medium 63 4 3 1 4 16 1 6 27 4 1 6
Low 456 124 141 167 316 122 1435 5 206 177 545 116 53 23 860 1
Below cutoff 995 1511 966 417 1063 303 1545 914 2688 147 694 1008 116 726 1035 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI017384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000258443   ⟹   ENSP00000258443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,894,471 - 108,989,220 (-)Ensembl
RefSeq Acc Id: ENST00000376651   ⟹   ENSP00000365839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,894,478 - 108,989,372 (-)Ensembl
RefSeq Acc Id: ENST00000409271   ⟹   ENSP00000386371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,894,471 - 108,989,269 (-)Ensembl
RefSeq Acc Id: NM_022336   ⟹   NP_071731
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,894,471 - 108,989,220 (-)NCBI
GRCh372109,510,927 - 109,605,828 (-)ENTREZGENE
Build 362108,877,361 - 108,972,260 (-)NCBI Archive
HuRef2103,109,351 - 103,204,259 (-)ENTREZGENE
CHM1_12109,515,194 - 109,610,098 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712204   ⟹   XP_006712267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,894,471 - 108,989,256 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510502   ⟹   XP_011508804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,894,471 - 108,965,798 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510503   ⟹   XP_011508805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,894,471 - 108,965,791 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_071731   ⟸   NM_022336
- Peptide Label: precursor
- UniProtKB: Q9UNE0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712267   ⟸   XM_006712204
- Peptide Label: isoform X3
- UniProtKB: Q9UNE0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011508805   ⟸   XM_011510503
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011508804   ⟸   XM_011510502
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000258443   ⟸   ENST00000258443
RefSeq Acc Id: ENSP00000365839   ⟸   ENST00000376651
RefSeq Acc Id: ENSP00000386371   ⟸   ENST00000409271
Protein Domains
Death

Promoters
RGD ID:6861296
Promoter ID:EPDNEW_H3813
Type:multiple initiation site
Name:EDAR_1
Description:ectodysplasin A receptor
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
GRCh382108,933,955 - 108,934,015EPDNEW
RGD ID:6797122
Promoter ID:HG_KWN:34369
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000376651,   NM_022336,   UC010FJN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362108,971,856 - 108,972,356 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022336.4(EDAR):c.1209G>A (p.Thr403=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000556650] Chr2:108897045 [GRCh38]
Chr2:109513501 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000534816]|Non-syndromic oligodontia [RCV001261887] Chr2:108930972 [GRCh38]
Chr2:109547428 [GRCh37]
Chr2:2q13
pathogenic|benign
NM_022336.4(EDAR):c.52-25_52-8del deletion Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006205] Chr2:108930250..108930267 [GRCh38]
Chr2:109546706..109546723 [GRCh37]
Chr2:2q13
pathogenic
EDAR, DEL deletion Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006208] Chr2:2q11-q13 pathogenic
NM_022336.4(EDAR):c.51+1G>A single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006212] Chr2:108930963 [GRCh38]
Chr2:109547419 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.715_718AAGA[1] (p.Lys240fs) microsatellite Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006217] Chr2:108910784..108910787 [GRCh38]
Chr2:109527240..109527243 [GRCh37]
Chr2:2q13
pathogenic|likely pathogenic
NM_022336.4(EDAR):c.803+1G>A single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006218] Chr2:108910459 [GRCh38]
Chr2:109526915 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer) deletion Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639387] Chr2:108897060..108897061 [GRCh38]
Chr2:109513516..109513517 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000527756]|not provided [RCV000521198] Chr2:108907920 [GRCh38]
Chr2:109524376 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1017C>A (p.Val339=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000538950] Chr2:108906315 [GRCh38]
Chr2:109522771 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.1024+1G>A single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000553575] Chr2:108906307 [GRCh38]
Chr2:109522763 [GRCh37]
Chr2:2q13
likely pathogenic
NM_022336.4(EDAR):c.813T>C (p.Asp271=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000560823]|Hypohidrotic ectodermal dysplasia [RCV001130388] Chr2:108908010 [GRCh38]
Chr2:109524466 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.266G>A (p.Arg89His) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006206]|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001038628]|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001253315]|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000032598]|Progressive sclerosing poliodystrophy [RCV000681480] Chr2:108929288 [GRCh38]
Chr2:109545744 [GRCh37]
Chr2:2q13
pathogenic|likely pathogenic
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006209]|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000798172] Chr2:108929295 [GRCh38]
Chr2:109545751 [GRCh37]
Chr2:2q13
pathogenic|uncertain significance
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000532015]|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006210]|Non-syndromic oligodontia [RCV001261883]|not provided [RCV000255664] Chr2:108897182 [GRCh38]
Chr2:109513638 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001050412]|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000755721]|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006211]|not provided [RCV000255701] Chr2:108896995 [GRCh38]
Chr2:109513451 [GRCh37]
Chr2:2q13
pathogenic|likely pathogenic
NM_022336.4(EDAR):c.1124G>A (p.Arg375His) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006213] Chr2:108897130 [GRCh38]
Chr2:109513586 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006214] Chr2:108929225 [GRCh38]
Chr2:109545681 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1060G>T (p.Glu354Ter) single nucleotide variant Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006215] Chr2:108897194 [GRCh38]
Chr2:109513650 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) single nucleotide variant Hair morphology 1, hair thickness [RCV000006216]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000382959]|Hypohidrotic ectodermal dysplasia [RCV001133945]|Non-syndromic oligodontia [RCV001261884]|not specified [RCV000174399] Chr2:108897145 [GRCh38]
Chr2:109513601 [GRCh37]
Chr2:2q13
pathogenic|association|benign
GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1 copy number loss See cases [RCV000051261] Chr2:108579001..109736559 [GRCh38]
Chr2:109195457..110494136 [GRCh37]
Chr2:108561889..109851425 [NCBI36]
Chr2:2q12.3-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|See cases [RCV000053142] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
NM_022336.3(EDAR):c.655+42C>T single nucleotide variant Malignant melanoma [RCV000060294] Chr2:108910905 [GRCh38]
Chr2:109527361 [GRCh37]
Chr2:108893793 [NCBI36]
Chr2:2q13
not provided
NM_022336.3(EDAR):c.293G>A (p.Arg98Gln) single nucleotide variant Malignant melanoma [RCV000060295] Chr2:108929261 [GRCh38]
Chr2:109545717 [GRCh37]
Chr2:108912149 [NCBI36]
Chr2:2q13
not provided
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001131113]|not provided [RCV000255100] Chr2:108912744 [GRCh38]
Chr2:109529200 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) single nucleotide variant not provided [RCV000255133] Chr2:108897110 [GRCh38]
Chr2:109513566 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.*42G>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000367811]|Hypohidrotic ectodermal dysplasia [RCV001130990]|not provided [RCV000143979] Chr2:108896865 [GRCh38]
Chr2:109513321 [GRCh37]
Chr2:2q13
benign|not provided
NM_022336.4(EDAR):c.1024+16del deletion not provided [RCV000143980]|not specified [RCV000242704] Chr2:108906292 [GRCh38]
Chr2:109522748 [GRCh37]
Chr2:2q13
benign|uncertain significance
NM_022336.4(EDAR):c.1024+44C>T single nucleotide variant not provided [RCV000143981] Chr2:108906264 [GRCh38]
Chr2:109522720 [GRCh37]
Chr2:2q13
benign|uncertain significance
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000269800]|Hypohidrotic ectodermal dysplasia [RCV001133946]|none provided [RCV001282797]|not provided [RCV000143982]|not specified [RCV000150610] Chr2:108897198 [GRCh38]
Chr2:109513654 [GRCh37]
Chr2:2q13
benign|uncertain significance
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001134063]|not provided [RCV000143983] Chr2:108929347 [GRCh38]
Chr2:109545803 [GRCh37]
Chr2:2q13
benign|likely benign|not provided
NM_022336.4(EDAR):c.655+30T>C single nucleotide variant not provided [RCV000143984] Chr2:108910917 [GRCh38]
Chr2:109527373 [GRCh37]
Chr2:2q13
benign|uncertain significance
NM_022336.4(EDAR):c.731-62T>C single nucleotide variant not provided [RCV000143985] Chr2:108910594 [GRCh38]
Chr2:109527050 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.731-99C>T single nucleotide variant not provided [RCV000143986] Chr2:108910631 [GRCh38]
Chr2:109527087 [GRCh37]
Chr2:2q13
benign|uncertain significance
NM_022336.4(EDAR):c.750C>T (p.Ser250=) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000285005]|Hypohidrotic ectodermal dysplasia [RCV001130391]|not provided [RCV000143987]|not specified [RCV000150611] Chr2:108910513 [GRCh38]
Chr2:109526969 [GRCh37]
Chr2:2q13
benign|uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 copy number gain See cases [RCV000053142] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1 copy number loss See cases [RCV000134167] Chr2:107962353..109700179 [GRCh38]
Chr2:108578809..110457756 [GRCh37]
Chr2:107945241..109815045 [NCBI36]
Chr2:2q12.3-13
pathogenic|uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1 copy number loss See cases [RCV000135738] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3 copy number gain See cases [RCV000136575] Chr2:108681906..109700179 [GRCh38]
Chr2:109298362..110457756 [GRCh37]
Chr2:108664794..109815045 [NCBI36]
Chr2:2q12.3-13
likely benign|uncertain significance
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1 copy number loss See cases [RCV000141950] Chr2:108660713..109735214 [GRCh38]
Chr2:109277169..110492791 [GRCh37]
Chr2:108643601..109850080 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1 copy number loss See cases [RCV000142089] Chr2:108526866..109746741 [GRCh38]
Chr2:109143322..110504318 [GRCh37]
Chr2:108509754..109861607 [NCBI36]
Chr2:2q12.3-13
uncertain significance
NM_022336.4(EDAR):c.357-4G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000285838]|Hypohidrotic ectodermal dysplasia [RCV001131114]|not specified [RCV000156147] Chr2:108923457 [GRCh38]
Chr2:109539913 [GRCh37]
Chr2:2q13
benign|likely benign
NC_000002.12:g.(?_108896907)_(108906334_?)del deletion Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000150609] Chr2:108896907..108906334 [GRCh38]
Chr2:109513363..109522790 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln) single nucleotide variant not provided [RCV000254918] Chr2:108897181 [GRCh38]
Chr2:109513637 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.*328G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000261676]|Hypohidrotic ectodermal dysplasia [RCV001130985] Chr2:108896579 [GRCh38]
Chr2:109513035 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.186C>T (p.Tyr62=) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000390480]|Hypohidrotic ectodermal dysplasia [RCV001134064] Chr2:108929368 [GRCh38]
Chr2:109545824 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1888_*1891GAGT[1] microsatellite Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000259723] Chr2:108895012..108895015 [GRCh38]
Chr2:109511468..109511471 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000821558]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000301138]|Hypohidrotic ectodermal dysplasia [RCV001134066] Chr2:108930148 [GRCh38]
Chr2:109546604 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000380246]|Hypohidrotic ectodermal dysplasia [RCV001131110]|not provided [RCV000523863] Chr2:108910995 [GRCh38]
Chr2:109527451 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) single nucleotide variant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000258329] Chr2:108896970 [GRCh38]
Chr2:109513426 [GRCh37]
Chr2:2q13
likely pathogenic
NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000531671] Chr2:108897091 [GRCh38]
Chr2:109513547 [GRCh37]
Chr2:2q13
likely pathogenic
NM_022336.3(EDAR):c.(?_509)_(803_?)+34del deletion Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000217502] Chr2:108910426..108912698 [GRCh38]
Chr2:109526882..109529154 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3 copy number gain not provided [RCV000762743] Chr2:109300532..110862536 [GRCh37]
Chr2:2q12.3-13
uncertain significance
NM_022336.4(EDAR):c.1119G>A (p.Thr373=) single nucleotide variant not provided [RCV000543206] Chr2:108897135 [GRCh38]
Chr2:109513591 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000558030] Chr2:108897122 [GRCh38]
Chr2:109513578 [GRCh37]
Chr2:2q13
likely pathogenic
NM_022336.4(EDAR):c.844C>T (p.Arg282Trp) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000329517]|Hypohidrotic ectodermal dysplasia [RCV001135452] Chr2:108907979 [GRCh38]
Chr2:109524435 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_022336.4(EDAR):c.1183A>G (p.Met395Val) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000333021]|Hypohidrotic ectodermal dysplasia [RCV001133941] Chr2:108897071 [GRCh38]
Chr2:109513527 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639386]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000337432]|Hypohidrotic ectodermal dysplasia [RCV001135565] Chr2:108930226 [GRCh38]
Chr2:109546682 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1
pathogenic
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001218031]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000339609]|Hypohidrotic ectodermal dysplasia [RCV001131109] Chr2:108910832 [GRCh38]
Chr2:109527288 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*2426C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000268013]|Hypohidrotic ectodermal dysplasia [RCV001135177] Chr2:108894481 [GRCh38]
Chr2:109510937 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000546551] Chr2:108897079 [GRCh38]
Chr2:109513535 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.870C>T (p.Pro290=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000549368]|Hypohidrotic ectodermal dysplasia [RCV001135449]|not specified [RCV000251730] Chr2:108907953 [GRCh38]
Chr2:109524409 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.212G>A (p.Cys71Tyr) single nucleotide variant not provided [RCV000256013] Chr2:108929342 [GRCh38]
Chr2:109545798 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.-238C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000271005]|Hypohidrotic ectodermal dysplasia [RCV001130501] Chr2:108989179 [GRCh38]
Chr2:109605635 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001068701]|not provided [RCV000256050] Chr2:108897133 [GRCh38]
Chr2:109513589 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.-189T>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000269998]|Hypohidrotic ectodermal dysplasia [RCV001135571] Chr2:108989130 [GRCh38]
Chr2:109605586 [GRCh37]
Chr2:2q13
benign|uncertain significance
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000864277]|Hypohidrotic ectodermal dysplasia [RCV001133944]|Non-syndromic oligodontia [RCV001261888]|not specified [RCV000243038] Chr2:108897116 [GRCh38]
Chr2:109513572 [GRCh37]
Chr2:2q13
pathogenic|benign
NM_022336.4(EDAR):c.319A>G (p.Met107Val) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639391]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000336113]|Hypohidrotic ectodermal dysplasia [RCV001134059]|Non-syndromic oligodontia [RCV001261885]|not specified [RCV000247995] Chr2:108929235 [GRCh38]
Chr2:109545691 [GRCh37]
Chr2:2q13
pathogenic|benign|likely benign
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 copy number loss See cases [RCV000240490] Chr2:109556627..117570152 [GRCh37]
Chr2:2q12.3-14.1
pathogenic
NM_022336.4(EDAR):c.822C>A (p.Ser274=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000534738]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000384066]|Hypohidrotic ectodermal dysplasia [RCV001130387]|not specified [RCV000248380] Chr2:108908001 [GRCh38]
Chr2:109524457 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.*16G>C single nucleotide variant not specified [RCV000250729] Chr2:108896891 [GRCh38]
Chr2:109513347 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.*1598T>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000374162]|Hypohidrotic ectodermal dysplasia [RCV001130847] Chr2:108895309 [GRCh38]
Chr2:109511765 [GRCh37]
Chr2:2q13
benign
NM_022336.3(EDAR):c.-370C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000376110] Chr2:108989311 [GRCh38]
Chr2:109605767 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.*935C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000398662]|Hypohidrotic ectodermal dysplasia [RCV001135314] Chr2:108895972 [GRCh38]
Chr2:109512428 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.*1900C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000354350]|Hypohidrotic ectodermal dysplasia [RCV001135183] Chr2:108895007 [GRCh38]
Chr2:109511463 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.*1129A>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000400545]|Hypohidrotic ectodermal dysplasia [RCV001133824] Chr2:108895778 [GRCh38]
Chr2:109512234 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.*2426_*2430del deletion Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000357958] Chr2:108894477..108894481 [GRCh38]
Chr2:109510933..109510937 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*757T>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000359988]|Hypohidrotic ectodermal dysplasia [RCV001135318] Chr2:108896150 [GRCh38]
Chr2:109512606 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.*1107C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000290599]|Hypohidrotic ectodermal dysplasia [RCV001135311] Chr2:108895800 [GRCh38]
Chr2:109512256 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.*895C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000305290]|Hypohidrotic ectodermal dysplasia [RCV001135315] Chr2:108896012 [GRCh38]
Chr2:109512468 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.*999C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000340908]|Hypohidrotic ectodermal dysplasia [RCV001135312] Chr2:108895908 [GRCh38]
Chr2:109512364 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.*625C>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000408038]|Hypohidrotic ectodermal dysplasia [RCV001130273] Chr2:108896282 [GRCh38]
Chr2:109512738 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.3(EDAR):c.-414A>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000323046] Chr2:108989355 [GRCh38]
Chr2:109605811 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1248G>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000388221]|Hypohidrotic ectodermal dysplasia [RCV001133819] Chr2:108895659 [GRCh38]
Chr2:109512115 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.*188G>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000330847]|Hypohidrotic ectodermal dysplasia [RCV001130989] Chr2:108896719 [GRCh38]
Chr2:109513175 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*2151_*2154dup duplication Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000323109] Chr2:108894752..108894753 [GRCh38]
Chr2:109511208..109511209 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.960C>T (p.Ala320=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000945336]|Hypohidrotic ectodermal dysplasia [RCV001135448]|not specified [RCV000291449] Chr2:108907863 [GRCh38]
Chr2:109524319 [GRCh37]
Chr2:2q13
benign|likely benign
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000277963]|Hypohidrotic ectodermal dysplasia [RCV001133940] Chr2:108896966 [GRCh38]
Chr2:109513422 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001134061]|not provided [RCV000263826] Chr2:108929330 [GRCh38]
Chr2:109545786 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_022336.3(EDAR):c.-394T>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000267918] Chr2:108989335 [GRCh38]
Chr2:109605791 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_022336.4(EDAR):c.-30A>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000314672]|Hypohidrotic ectodermal dysplasia [RCV001135568] Chr2:108988971 [GRCh38]
Chr2:109605427 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1181C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000344375]|Hypohidrotic ectodermal dysplasia [RCV001133822] Chr2:108895726 [GRCh38]
Chr2:109512182 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.-4G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000400452]|Hypohidrotic ectodermal dysplasia [RCV001135566] Chr2:108931018 [GRCh38]
Chr2:109547474 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1535C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000292826]|Hypohidrotic ectodermal dysplasia [RCV001130849] Chr2:108895372 [GRCh38]
Chr2:109511828 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.-235G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000365659]|Hypohidrotic ectodermal dysplasia [RCV001130500] Chr2:108989176 [GRCh38]
Chr2:109605632 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.-226T>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000306432]|Hypohidrotic ectodermal dysplasia [RCV001135572] Chr2:108989167 [GRCh38]
Chr2:109605623 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1761G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000319542]|Hypohidrotic ectodermal dysplasia [RCV001130142] Chr2:108895146 [GRCh38]
Chr2:109511602 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1319C>G single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000333860]|Hypohidrotic ectodermal dysplasia [RCV001130853] Chr2:108895588 [GRCh38]
Chr2:109512044 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.-129G>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000369335]|Hypohidrotic ectodermal dysplasia [RCV001135570] Chr2:108989070 [GRCh38]
Chr2:109605526 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*602T>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000296925]|Hypohidrotic ectodermal dysplasia [RCV001130274] Chr2:108896305 [GRCh38]
Chr2:109512761 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.3(EDAR):c.-348G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000321533] Chr2:108989289 [GRCh38]
Chr2:109605745 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.3(EDAR):c.*2450G>A single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000376277] Chr2:108894457 [GRCh38]
Chr2:109510913 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.*499C>T single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000356492]|Hypohidrotic ectodermal dysplasia [RCV001130276] Chr2:108896408 [GRCh38]
Chr2:109512864 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1226A>C single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000289274]|Hypohidrotic ectodermal dysplasia [RCV001133820] Chr2:108895681 [GRCh38]
Chr2:109512137 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.723G>A (p.Glu241=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000549710]|Hypohidrotic ectodermal dysplasia [RCV001131107] Chr2:108910783 [GRCh38]
Chr2:109527239 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.166C>T (p.Pro56Ser) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639385] Chr2:108930128 [GRCh38]
Chr2:109546584 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.57T>A (p.Ser19=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639388] Chr2:108930237 [GRCh38]
Chr2:109546693 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3 copy number gain See cases [RCV000446992] Chr2:108526025..110876776 [GRCh37]
Chr2:2q12.3-13
uncertain significance
NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp) single nucleotide variant not provided [RCV000481594] Chr2:108896970 [GRCh38]
Chr2:109513426 [GRCh37]
Chr2:2q13
likely pathogenic
NM_022336.4(EDAR):c.284del (p.Gly95fs) deletion Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000477893] Chr2:108929270 [GRCh38]
Chr2:109545726 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_022336.4(EDAR):c.1229A>G (p.Glu410Gly) single nucleotide variant not provided [RCV000484954] Chr2:108897025 [GRCh38]
Chr2:109513481 [GRCh37]
Chr2:2q13
likely pathogenic
NM_022336.4(EDAR):c.883_889delinsTGATGAGGAGCCCG (p.Gln295_Ser297delinsTer) indel not provided [RCV000485277] Chr2:108907934..108907940 [GRCh38]
Chr2:109524390..109524396 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.442+1G>A single nucleotide variant not provided [RCV000497932] Chr2:108923367 [GRCh38]
Chr2:109539823 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.481G>A (p.Gly161Ser) single nucleotide variant not specified [RCV000506314] Chr2:108912726 [GRCh38]
Chr2:109529182 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3 copy number gain See cases [RCV000510943] Chr2:108534030..110492791 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2q12.3-13(chr2:109301074-110482930) copy number loss not provided [RCV000767554] Chr2:109301074..110482930 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000626106] Chr2:108929276 [GRCh38]
Chr2:109545732 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.529+1G>A single nucleotide variant Ectodermal dysplasia [RCV000613299] Chr2:108912677 [GRCh38]
Chr2:109529133 [GRCh37]
Chr2:2q13
pathogenic
Single allele duplication Neuronopathy, distal hereditary motor, type viia [RCV000534213] Chr2:107988136..108963283 [GRCh38]
Chr2:2q12.3-13
uncertain significance
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639389]|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001253683]|not provided [RCV001090262] Chr2:108929262 [GRCh38]
Chr2:109545718 [GRCh37]
Chr2:2q13
pathogenic|likely pathogenic
NM_022336.4(EDAR):c.187G>A (p.Gly63Ser) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639390] Chr2:108929367 [GRCh38]
Chr2:109545823 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) single nucleotide variant Inborn genetic diseases [RCV000623679] Chr2:108906347 [GRCh38]
Chr2:109522803 [GRCh37]
Chr2:2q13
uncertain significance
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1 copy number loss not provided [RCV000682122] Chr2:109295035..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3 copy number gain not provided [RCV000682142] Chr2:108501887..110504318 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) single nucleotide variant Progressive sclerosing poliodystrophy [RCV000681479] Chr2:108929289 [GRCh38]
Chr2:109545745 [GRCh37]
Chr2:2q13
likely pathogenic
NM_022336.4(EDAR):c.1089del (p.Tyr364fs) deletion Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000686923] Chr2:108897165 [GRCh38]
Chr2:109513621 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1169dup (p.Met391fs) duplication Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000702440] Chr2:108897084..108897085 [GRCh38]
Chr2:109513540..109513541 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.931G>T (p.Glu311Ter) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000689707] Chr2:108907892 [GRCh38]
Chr2:109524348 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.175-2A>G single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000694146] Chr2:108929381 [GRCh38]
Chr2:109545837 [GRCh37]
Chr2:2q13
likely pathogenic
NC_000002.12:g.(?_108719587)_(108963283_?)del deletion Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000708268] Chr2:108719587..108963283 [GRCh38]
Chr2:109336043..109579739 [GRCh37]
Chr2:2q13
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_022336.4(EDAR):c.275A>G (p.Asp92Gly) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000691089] Chr2:108929279 [GRCh38]
Chr2:109545735 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NC_000002.11:g.(?_109367964)_(109579739_?)dup duplication Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000814613] Chr2:108751508..108963283 [GRCh38]
Chr2:109367964..109579739 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3(chr2:109573153-109588356)x1 copy number loss not provided [RCV000753079] Chr2:109573153..109588356 [GRCh37]
Chr2:2q12.3
benign
NM_022336.4(EDAR):c.*2141T>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135180] Chr2:108894766 [GRCh38]
Chr2:109511222 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.*2016G>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135182] Chr2:108894891 [GRCh38]
Chr2:109511347 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*791A>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135317] Chr2:108896116 [GRCh38]
Chr2:109512572 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_107988146)_(108963283_?)del deletion Neuronopathy, distal hereditary motor, type viia [RCV001031168] Chr2:108604602..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001134062] Chr2:108929346 [GRCh38]
Chr2:109545802 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.156G>A (p.Pro52=) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001134065] Chr2:108930138 [GRCh38]
Chr2:109546594 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.1017C>T (p.Val339=) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135447]|not provided [RCV000877687] Chr2:108906315 [GRCh38]
Chr2:109522771 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.227C>T (p.Ala76Val) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000981769] Chr2:108929327 [GRCh38]
Chr2:109545783 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.1179C>T (p.Asp393=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000877169]|Hypohidrotic ectodermal dysplasia [RCV001133942] Chr2:108897075 [GRCh38]
Chr2:109513531 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001042797] Chr2:108897124 [GRCh38]
Chr2:109513580 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.656-1G>A single nucleotide variant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000778557] Chr2:108910851 [GRCh38]
Chr2:109527307 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter) single nucleotide variant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000778558] Chr2:108930186 [GRCh38]
Chr2:109546642 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.243A>G (p.Lys81=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000872098]|Hypohidrotic ectodermal dysplasia [RCV001134060] Chr2:108929311 [GRCh38]
Chr2:109545767 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.122C>A (p.Thr41Lys) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000815613] Chr2:108930172 [GRCh38]
Chr2:109546628 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.360C>T (p.Tyr120=) single nucleotide variant not provided [RCV000937724] Chr2:108923450 [GRCh38]
Chr2:109539906 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.1061_1063AGA[1] (p.Lys355del) microsatellite Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000805325] Chr2:108897188..108897190 [GRCh38]
Chr2:109513644..109513646 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*976A>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135313] Chr2:108895931 [GRCh38]
Chr2:109512387 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.-18-14C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135567] Chr2:108931046 [GRCh38]
Chr2:109547502 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000795267] Chr2:108929226 [GRCh38]
Chr2:109545682 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.11:g.(?_109336043)_(109579739_?)dup duplication Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000811356] Chr2:108719587..108963283 [GRCh38]
Chr2:109336043..109579739 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_108729112)_(108963283_?)dup duplication Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001032251] Chr2:109345568..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_022336.4(EDAR):c.*1108G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001133825] Chr2:108895799 [GRCh38]
Chr2:109512255 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.1088del (p.Thr363fs) deletion Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000796673] Chr2:108897166 [GRCh38]
Chr2:109513622 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1169del (p.Gly390fs) deletion Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001065716] Chr2:108897085 [GRCh38]
Chr2:109513541 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.*2078T>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135181] Chr2:108894829 [GRCh38]
Chr2:109511285 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.736G>A (p.Val246Met) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000871127]|Hypohidrotic ectodermal dysplasia [RCV001130392] Chr2:108910527 [GRCh38]
Chr2:109526983 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs) indel Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000782363] Chr2:108929347 [GRCh38]
Chr2:109545803 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000782364] Chr2:108896954 [GRCh38]
Chr2:109513410 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000814466] Chr2:108897112 [GRCh38]
Chr2:109513568 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1710G>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130143] Chr2:108895197 [GRCh38]
Chr2:109511653 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1703G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130144] Chr2:108895204 [GRCh38]
Chr2:109511660 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*639T>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130272] Chr2:108896268 [GRCh38]
Chr2:109512724 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*485C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130278] Chr2:108896422 [GRCh38]
Chr2:109512878 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*447T>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130983] Chr2:108896460 [GRCh38]
Chr2:109512916 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*242T>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130987] Chr2:108896665 [GRCh38]
Chr2:109513121 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.606C>T (p.Ile202=) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001131111] Chr2:108910996 [GRCh38]
Chr2:109527452 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.560C>T (p.Ala187Val) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001131112] Chr2:108911042 [GRCh38]
Chr2:109527498 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.755A>G (p.Lys252Arg) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV001130390] Chr2:108910508 [GRCh38]
Chr2:109526964 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.731-4G>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130393] Chr2:108910536 [GRCh38]
Chr2:109526992 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001239215] Chr2:108897098 [GRCh38]
Chr2:109513554 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.1208C>T (p.Thr403Met) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001223855] Chr2:108897046 [GRCh38]
Chr2:109513502 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001227034] Chr2:108906353 [GRCh38]
Chr2:109522809 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1029T>C (p.Leu343=) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135446] Chr2:108897225 [GRCh38]
Chr2:109513681 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.1305G>A (p.Ala435=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000872821] Chr2:108896949 [GRCh38]
Chr2:109513405 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.1143C>T (p.Phe381=) single nucleotide variant Hypohidrotic Ectodermal Dysplasia, Dominant [RCV001133943]|not provided [RCV000878680] Chr2:108897111 [GRCh38]
Chr2:109513567 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.726C>T (p.Ala242=) single nucleotide variant not provided [RCV000946155] Chr2:108910780 [GRCh38]
Chr2:109527236 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.*714T>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130271] Chr2:108896193 [GRCh38]
Chr2:109512649 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*486G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130277] Chr2:108896421 [GRCh38]
Chr2:109512877 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.-256C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130502] Chr2:108989197 [GRCh38]
Chr2:109605653 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1366A>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130851] Chr2:108895541 [GRCh38]
Chr2:109511997 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.675G>A (p.Pro225=) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001131108] Chr2:108910831 [GRCh38]
Chr2:109527287 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.*2376T>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135178] Chr2:108894531 [GRCh38]
Chr2:109510987 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*867A>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135316] Chr2:108896040 [GRCh38]
Chr2:109512496 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135451] Chr2:108907974 [GRCh38]
Chr2:109524430 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001027975] Chr2:108930201 [GRCh38]
Chr2:109546657 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1 copy number loss not provided [RCV001005304] Chr2:108499809..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
NM_022336.4(EDAR):c.*1798G>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130140] Chr2:108895109 [GRCh38]
Chr2:109511565 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*546C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130275] Chr2:108896361 [GRCh38]
Chr2:109512817 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1435G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130850] Chr2:108895472 [GRCh38]
Chr2:109511928 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001050481] Chr2:108906359 [GRCh38]
Chr2:109522815 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*254C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130986] Chr2:108896653 [GRCh38]
Chr2:109513109 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.*191C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130988] Chr2:108896716 [GRCh38]
Chr2:109513172 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001069629]|Hypohidrotic ectodermal dysplasia [RCV001130389] Chr2:108910461 [GRCh38]
Chr2:109526917 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_107988146)_(108963283_?)dup duplication Neuronopathy, distal hereditary motor, type viia [RCV001033739] Chr2:108604602..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_022336.4(EDAR):c.*1678C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130145] Chr2:108895229 [GRCh38]
Chr2:109511685 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.*1364T>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130852] Chr2:108895543 [GRCh38]
Chr2:109511999 [GRCh37]
Chr2:2q13
likely benign
NM_022336.4(EDAR):c.*1298G>C single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130854] Chr2:108895609 [GRCh38]
Chr2:109512065 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001203045] Chr2:108897040 [GRCh38]
Chr2:109513496 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*2189G>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135179] Chr2:108894718 [GRCh38]
Chr2:109511174 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.849C>T (p.Ser283=) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135450] Chr2:108907974 [GRCh38]
Chr2:109524430 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.-71C>G single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001135569] Chr2:108989012 [GRCh38]
Chr2:109605468 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.575T>G (p.Met192Arg) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001042770] Chr2:108911027 [GRCh38]
Chr2:109527483 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1647C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130146] Chr2:108895260 [GRCh38]
Chr2:109511716 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1563C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130848] Chr2:108895344 [GRCh38]
Chr2:109511800 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001058350] Chr2:108897040 [GRCh38]
Chr2:109513496 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.1038G>A (p.Thr346=) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001040675] Chr2:108897216 [GRCh38]
Chr2:109513672 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1199C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001133821] Chr2:108895708 [GRCh38]
Chr2:109512164 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1133C>T single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001133823] Chr2:108895774 [GRCh38]
Chr2:109512230 [GRCh37]
Chr2:2q13
benign
NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001205819] Chr2:108930223 [GRCh38]
Chr2:109546679 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*402G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130984] Chr2:108896505 [GRCh38]
Chr2:109512961 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys) single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001055181] Chr2:108923418 [GRCh38]
Chr2:109539874 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.803+4T>G single nucleotide variant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001202990] Chr2:108910456 [GRCh38]
Chr2:109526912 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.*1774G>A single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001130141] Chr2:108895133 [GRCh38]
Chr2:109511589 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13
pathogenic
NM_022336.4(EDAR):c.77C>T (p.Ala26Val) single nucleotide variant Inborn genetic diseases [RCV001265982] Chr2:108930217 [GRCh38]
Chr2:109546673 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.871G>A (p.Ala291Thr) single nucleotide variant Non-syndromic oligodontia [RCV001261886] Chr2:108907952 [GRCh38]
Chr2:109524408 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.404G>A (p.Cys135Tyr) single nucleotide variant Non-syndromic oligodontia [RCV001261882] Chr2:108923406 [GRCh38]
Chr2:109539862 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.1007T>A (p.Val336Glu) single nucleotide variant Inborn genetic diseases [RCV001267603] Chr2:108906325 [GRCh38]
Chr2:109522781 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr) single nucleotide variant Oligodontia [RCV001267873] Chr2:108929216 [GRCh38]
Chr2:109545672 [GRCh37]
Chr2:2q13
pathogenic
NM_022336.4(EDAR):c.287T>C (p.Phe96Ser) single nucleotide variant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001271097] Chr2:108929267 [GRCh38]
Chr2:109545723 [GRCh37]
Chr2:2q13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2895 AgrOrtholog
COSMIC EDAR COSMIC
Ensembl Genes ENSG00000135960 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000258443 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365839 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386371 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000258443 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376651 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409271 UniProtKB/Swiss-Prot
GTEx ENSG00000135960 GTEx
HGNC ID HGNC:2895 ENTREZGENE
Human Proteome Map EDAR Human Proteome Map
InterPro DEATH-like_dom_sf UniProtKB/Swiss-Prot
  EDAR_N UniProtKB/Swiss-Prot
KEGG Report hsa:10913 UniProtKB/Swiss-Prot
NCBI Gene 10913 ENTREZGENE
OMIM 129490 OMIM
  224900 OMIM
  604095 OMIM
  612630 OMIM
PharmGKB PA27602 PharmGKB
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot
UniProt EDAR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R9H2 UniProtKB/Swiss-Prot
  B4DLC5 UniProtKB/Swiss-Prot
  D3DX74 UniProtKB/Swiss-Prot
  E9PC98 UniProtKB/Swiss-Prot
  Q52LL5 UniProtKB/Swiss-Prot
  Q9UND9 UniProtKB/Swiss-Prot