EFNB1 (ephrin B1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: EFNB1 (ephrin B1) Homo sapiens
Analyze
Symbol: EFNB1
Name: ephrin B1
RGD ID: 737327
HGNC Page HGNC
Description: Predicted to have ephrin receptor binding activity. Predicted to be involved in axon guidance; ephrin receptor signaling pathway; and presynapse assembly. Localizes to plasma membrane. Implicated in craniofrontonasal syndrome and dysostosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CFND; CFNS; craniofrontonasal syndrome (craniofrontonasal dysplasia); EFB1; EFL-3; EFL3; ELK ligand; Elk-L; eph-related receptor tyrosine kinase ligand 2; ephrin-B1; EPLG2; LERK-2; LERK2; ligand of eph-related kinase 2; MGC8782
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 EnsemblX68,829,021 - 68,842,160 (+)EnsemblGRCh38hg38GRCh38
GRCh38X68,829,021 - 68,842,160 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X68,048,864 - 68,062,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X67,965,556 - 67,978,728 (+)NCBINCBI36hg18NCBI36
Build 34X67,831,851 - 67,845,023NCBI
CeleraX68,401,732 - 68,414,899 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX61,874,538 - 61,887,692 (+)NCBIHuRef
CHM1_1X67,941,979 - 67,955,149 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal rib cage morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aplasia/Hypoplasia of the nipples  (IAGP)
Axillary pterygium  (IAGP)
Bifid nasal tip  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Breast hypoplasia  (IAGP)
Broad hallux  (IAGP)
Broad hallux phalanx  (IAGP)
Camptodactyly of finger  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital pseudoarthrosis of the clavicle  (IAGP)
Coronal craniosynostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Depressed nasal ridge  (IAGP)
Down-sloping shoulders  (IAGP)
Downslanted palpebral fissures  (IAGP)
Exotropia  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Fragile nails  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hemihypotrophy of lower limb  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic nasal tip  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Low posterior hairline  (IAGP)
Microcephaly  (IAGP)
Midline defect of the nose  (IAGP)
Nystagmus  (IAGP)
Oral cleft  (IAGP)
Pectus excavatum  (IAGP)
Plagiocephaly  (IAGP)
Ridged fingernail  (IAGP)
Ridged nail  (IAGP)
Sandal gap  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shawl scrotum  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Split nail  (IAGP)
Sprengel anomaly  (IAGP)
Telecanthus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Toe syndactyly  (IAGP)
Umbilical hernia  (IAGP)
Unilateral breast hypoplasia  (IAGP)
Wide nasal bridge  (IAGP)
Widow's peak  (IAGP)
Woolly hair  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:7774950   PMID:7973638   PMID:8070404   PMID:8660976   PMID:8755474   PMID:8798744   PMID:8878483   PMID:8889548   PMID:9195962   PMID:9267020   PMID:9302274   PMID:9530499  
PMID:9576626   PMID:9883737   PMID:9920925   PMID:10197531   PMID:10207129   PMID:10669731   PMID:10730216   PMID:11128993   PMID:11256076   PMID:11301003   PMID:11466320   PMID:11557983  
PMID:11580899   PMID:12084815   PMID:12136247   PMID:12209731   PMID:12223469   PMID:12384430   PMID:12475948   PMID:12477932   PMID:12919674   PMID:14576067   PMID:14642617   PMID:14988728  
PMID:15166289   PMID:15340161   PMID:15351694   PMID:15489334   PMID:15725075   PMID:15772651   PMID:15959873   PMID:16526919   PMID:16712791   PMID:17204606   PMID:17567680   PMID:17591954  
PMID:17906625   PMID:17942634   PMID:18043713   PMID:18314490   PMID:18627045   PMID:19056867   PMID:19672298   PMID:20301533   PMID:20308325   PMID:20565770   PMID:20643727   PMID:20734337  
PMID:21064195   PMID:21542058   PMID:21873635   PMID:21988832   PMID:22279592   PMID:22718351   PMID:23335590   PMID:23376485   PMID:23475958   PMID:23811940   PMID:24240587   PMID:24281372  
PMID:24711643   PMID:24825906   PMID:25258252   PMID:25436983   PMID:25486017   PMID:25643922   PMID:25779027   PMID:26186194   PMID:26439863   PMID:26580852   PMID:26638075   PMID:27039370  
PMID:27650623   PMID:28238796   PMID:28514442   PMID:28747399   PMID:29180619   PMID:29215649   PMID:29568061   PMID:29602834   PMID:29615496   PMID:29997244   PMID:30006524   PMID:30058095  
PMID:30194290   PMID:30262919   PMID:30326247   PMID:30639242   PMID:31177093   PMID:31285555   PMID:32022998   PMID:32240825   PMID:32296183   PMID:32337793  


Genomics

Comparative Map Data
EFNB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX68,829,021 - 68,842,160 (+)EnsemblGRCh38hg38GRCh38
GRCh38X68,829,021 - 68,842,160 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X68,048,864 - 68,062,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X67,965,556 - 67,978,728 (+)NCBINCBI36hg18NCBI36
Build 34X67,831,851 - 67,845,023NCBI
CeleraX68,401,732 - 68,414,899 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX61,874,538 - 61,887,692 (+)NCBIHuRef
CHM1_1X67,941,979 - 67,955,149 (+)NCBICHM1_1
Efnb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X98,179,667 - 98,192,628 (+)NCBIGRCm39mm39
GRCm39 EnsemblX98,179,736 - 98,192,597 (+)Ensembl
GRCm38X99,136,061 - 99,149,022 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX99,136,130 - 99,148,991 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X96,331,469 - 96,344,330 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X95,338,849 - 95,351,710 (+)NCBImm8
CeleraX86,077,235 - 86,090,145 (+)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX43.22NCBI
Efnb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X64,257,351 - 64,270,158 (+)NCBI
Rnor_6.0 EnsemblX68,891,227 - 68,904,038 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X68,891,227 - 68,904,034 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X69,764,314 - 69,777,121 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X87,163,176 - 87,175,982 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X87,236,467 - 87,249,273 (+)NCBI
CeleraX64,624,957 - 64,637,749 (+)NCBICelera
Cytogenetic MapXq22NCBI
Efnb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554758,360,465 - 8,373,578 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554758,360,504 - 8,372,431 (+)NCBIChiLan1.0ChiLan1.0
EFNB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X68,139,078 - 68,152,127 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX68,139,078 - 68,152,131 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X58,075,744 - 58,088,838 (+)NCBIMhudiblu_PPA_v0panPan3
EFNB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X53,292,407 - 53,303,824 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX53,292,565 - 53,304,600 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX44,117,929 - 44,130,926 (+)NCBI
ROS_Cfam_1.0X54,257,764 - 54,270,762 (+)NCBI
UMICH_Zoey_3.1X52,225,889 - 52,238,885 (+)NCBI
UNSW_CanFamBas_1.0X53,554,687 - 53,567,686 (+)NCBI
UU_Cfam_GSD_1.0X53,478,390 - 53,491,387 (+)NCBI
Efnb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X48,786,595 - 48,799,574 (-)NCBI
SpeTri2.0NW_004936777434,729 - 447,778 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFNB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX54,948,342 - 54,973,629 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X54,947,339 - 54,961,403 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X62,073,418 - 62,080,778 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EFNB1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X58,668,572 - 58,681,583 (+)NCBI
ChlSab1.1 EnsemblX58,668,581 - 58,681,855 (+)Ensembl
Efnb1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248911,394,948 - 1,407,898 (-)NCBI

Position Markers
EPLG2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,060,967 - 68,061,138UniSTSGRCh37
Build 36X67,977,692 - 67,977,863RGDNCBI36
CeleraX68,413,859 - 68,414,030RGD
Cytogenetic MapXq12UniSTS
HuRefX61,886,650 - 61,886,821UniSTS
G64129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,060,967 - 68,061,138UniSTSGRCh37
Build 36X67,977,692 - 67,977,863RGDNCBI36
CeleraX68,413,859 - 68,414,030RGD
Cytogenetic MapXq12UniSTS
HuRefX61,886,650 - 61,886,821UniSTS
AA964352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,061,674 - 68,061,880UniSTSGRCh37
Build 36X67,978,399 - 67,978,605RGDNCBI36
CeleraX68,414,566 - 68,414,772RGD
HuRefX61,887,359 - 61,887,565UniSTS
EFNB1_609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,060,601 - 68,061,302UniSTSGRCh37
Build 36X67,977,326 - 67,978,027RGDNCBI36
CeleraX68,413,493 - 68,414,194RGD
HuRefX61,886,284 - 61,886,987UniSTS
DXS159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,051,225 - 68,051,517UniSTSGRCh37
Build 36X67,967,950 - 67,968,242RGDNCBI36
CeleraX68,404,117 - 68,404,409RGD
Cytogenetic MapXq12UniSTS
HuRefX61,876,923 - 61,877,215UniSTS
RH17985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,061,000 - 68,061,177UniSTSGRCh37
Build 36X67,977,725 - 67,977,902RGDNCBI36
CeleraX68,413,892 - 68,414,069RGD
Cytogenetic MapXq12UniSTS
HuRefX61,886,683 - 61,886,860UniSTS
GeneMap99-GB4 RH MapX228.07UniSTS
EFNB1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X68,059,823 - 68,060,258UniSTSGRCh37
CeleraX68,412,715 - 68,413,150UniSTS
HuRefX61,885,506 - 61,885,941UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI20308325
MIR92Bhsa-miR-92b-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1001
Count of miRNA genes:609
Interacting mature miRNAs:679
Transcripts:ENST00000204961
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2361 1915 1409 311 544 181 3471 1409 1089 383 1375 1535 145 1204 1954 6
Low 78 1003 315 311 1304 282 886 784 2645 36 84 77 30 1 834 2
Below cutoff 73 1 1 92 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000204961   ⟹   ENSP00000204961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,829,021 - 68,842,160 (+)Ensembl
RefSeq Acc Id: NM_004429   ⟹   NP_004420
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,829,021 - 68,842,160 (+)NCBI
GRCh37X68,048,840 - 68,062,007 (+)ENTREZGENE
Build 36X67,965,556 - 67,978,728 (+)NCBI Archive
HuRefX61,874,538 - 61,887,692 (+)ENTREZGENE
CHM1_1X67,941,979 - 67,955,149 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004420   ⟸   NM_004429
- Peptide Label: precursor
- UniProtKB: P98172 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000204961   ⟸   ENST00000204961
Protein Domains
Ephrin RBD

Promoters
RGD ID:6808643
Promoter ID:HG_KWN:67101
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000204961,   UC004DXE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X67,965,391 - 67,966,337 (+)MPROMDB
RGD ID:13627355
Promoter ID:EPDNEW_H28952
Type:initiation region
Name:EFNB1_1
Description:ephrin B1
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
GRCh38X68,829,021 - 68,829,081EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
EFNB1, EX2-5DEL deletion Craniofrontonasal syndrome [RCV000012472] ChrX:Xq12 pathogenic
NM_004429.4(EFNB1):c.365T>C (p.Met122Thr) single nucleotide variant not provided [RCV000519575] ChrX:68838853 [GRCh38]
ChrX:68058696 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) single nucleotide variant Craniofrontonasal syndrome [RCV000012473] ChrX:68838820 [GRCh38]
ChrX:68058663 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu) single nucleotide variant Craniofrontonasal syndrome [RCV000012474]|not provided [RCV000478350] ChrX:68838649 [GRCh38]
ChrX:68058492 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) single nucleotide variant Craniofrontonasal syndrome [RCV000012475] ChrX:68839708 [GRCh38]
ChrX:68059551 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.452G>T (p.Gly151Val) single nucleotide variant Craniofrontonasal syndrome [RCV000012476] ChrX:68839709 [GRCh38]
ChrX:68059552 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.472A>G (p.Met158Val) single nucleotide variant Craniofrontonasal syndrome [RCV000012477] ChrX:68839729 [GRCh38]
ChrX:68059572 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.474G>T (p.Met158Ile) single nucleotide variant Craniofrontonasal syndrome [RCV000012478] ChrX:68839731 [GRCh38]
ChrX:68059574 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly) single nucleotide variant Craniofrontonasal syndrome [RCV000012479] ChrX:68829885 [GRCh38]
ChrX:68049728 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter) single nucleotide variant Craniofrontonasal syndrome [RCV000012480] ChrX:68829886 [GRCh38]
ChrX:68049729 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) single nucleotide variant Craniofrontonasal syndrome [RCV000012481]|not provided [RCV000224877] ChrX:68838684 [GRCh38]
ChrX:68058527 [GRCh37]
ChrX:Xq13.1
pathogenic
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del deletion Craniofrontonasal syndrome [RCV000087028] ChrX:68839268..68847656 [GRCh38]
ChrX:68059111..68067499 [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 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
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 Xq12-13.1(chrX:68441645-69382098)x3 copy number gain See cases [RCV000054202] ChrX:68441645..69382098 [GRCh38]
ChrX:67661487..68601941 [GRCh37]
ChrX:67578212..68518666 [NCBI36]
ChrX:Xq12-13.1
uncertain significance
NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter) single nucleotide variant Craniofrontonasal syndrome [RCV000087027] ChrX:68839753 [GRCh38]
ChrX:68059596 [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
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 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 Xq12-13.1(chrX:68277324-68861722)x1 copy number loss See cases [RCV000141866] ChrX:68277324..68861722 [GRCh38]
ChrX:67497166..68081565 [GRCh37]
ChrX:67413891..67998290 [NCBI36]
ChrX:Xq12-13.1
pathogenic
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 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 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
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
NM_004429.4(EFNB1):c.175A>C (p.Lys59Gln) single nucleotide variant not specified [RCV000193305] ChrX:68838663 [GRCh38]
ChrX:68058506 [GRCh37]
ChrX:Xq13.1
uncertain significance
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_004429.4(EFNB1):c.499+1G>A single nucleotide variant Craniofrontonasal syndrome [RCV000677734] ChrX:68839757 [GRCh38]
ChrX:68059600 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.4(EFNB1):c.101_114dup (p.Ser39fs) duplication not provided [RCV000224501] ChrX:68829868..68829869 [GRCh38]
ChrX:68049711..68049712 [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
NM_004429.4(EFNB1):c.142A>T (p.Lys48Ter) single nucleotide variant Inborn genetic diseases [RCV000622395] ChrX:68838630 [GRCh38]
ChrX:68058473 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004429.4(EFNB1):c.219T>G (p.Tyr73Ter) single nucleotide variant not provided [RCV000326061] ChrX:68838707 [GRCh38]
ChrX:68058550 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.85dup (p.Ala29fs) duplication not provided [RCV000340660] ChrX:68829859..68829860 [GRCh38]
ChrX:68049702..68049703 [GRCh37]
ChrX:Xq13.1
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_004429.4(EFNB1):c.566T>C (p.Val189Ala) single nucleotide variant Craniofrontonasal syndrome [RCV000415485]|not provided [RCV000949117] ChrX:68840026 [GRCh38]
ChrX:68059869 [GRCh37]
ChrX:Xq13.1
benign
NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu) single nucleotide variant Craniofrontonasal syndrome [RCV000415481] ChrX:68839664 [GRCh38]
ChrX:68059507 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.4(EFNB1):c.466C>T (p.Arg156Cys) single nucleotide variant Craniofrontonasal syndrome [RCV000415493] ChrX:68839723 [GRCh38]
ChrX:68059566 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.4(EFNB1):c.271A>C (p.Thr91Pro) single nucleotide variant Craniofrontonasal syndrome [RCV000415505] ChrX:68838759 [GRCh38]
ChrX:68058602 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_004429.4(EFNB1):c.561del (p.Asn187fs) deletion Craniofrontonasal syndrome [RCV000415511] ChrX:68840021 [GRCh38]
ChrX:68059864 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.161C>G (p.Pro54Arg) single nucleotide variant not provided [RCV000523021] ChrX:68838649 [GRCh38]
ChrX:68058492 [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 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 Xq12-13.1(chrX:67570138-68576809)x3 copy number gain See cases [RCV000446503] ChrX:67570138..68576809 [GRCh37]
ChrX:Xq12-13.1
likely 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
NM_004429.4(EFNB1):c.509C>T (p.Ala170Val) single nucleotide variant not provided [RCV000444789] ChrX:68839969 [GRCh38]
ChrX:68059812 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
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_004429.4(EFNB1):c.258_266del (p.Ala87_Cys89del) deletion not provided [RCV000487410] ChrX:68838746..68838754 [GRCh38]
ChrX:68058589..68058597 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) single nucleotide variant Craniofrontonasal syndrome [RCV000503680] ChrX:68838619 [GRCh38]
ChrX:68058462 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004429.4(EFNB1):c.128+2T>A single nucleotide variant Craniofrontonasal syndrome [RCV000502211] ChrX:68829906 [GRCh38]
ChrX:68049749 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) single nucleotide variant Craniofrontonasal syndrome [RCV000502264] ChrX:68839983 [GRCh38]
ChrX:68059826 [GRCh37]
ChrX:Xq13.1
likely 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_004429.4(EFNB1):c.560_561AC[1] (p.Thr188fs) microsatellite Craniofrontonasal syndrome [RCV000500583] ChrX:68840020..68840021 [GRCh38]
ChrX:68059863..68059864 [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:68058460-68059931) copy number loss Hypertelorism [RCV000626565] ChrX:68058460..68059931 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.325C>G (p.Arg109Gly) single nucleotide variant Inborn genetic diseases [RCV000622267] ChrX:68838813 [GRCh38]
ChrX:68058656 [GRCh37]
ChrX:Xq13.1
uncertain significance
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
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 Xq13.1(chrX:68001279-68138241)x1 copy number loss not provided [RCV000684343] ChrX:68001279..68138241 [GRCh37]
ChrX:Xq13.1
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 Xq12-13.1(chrX:67637833-68628411)x3 copy number gain not provided [RCV000684342] ChrX:67637833..68628411 [GRCh37]
ChrX:Xq12-13.1
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
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
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_004429.4(EFNB1):c.816C>T (p.His272=) single nucleotide variant not provided [RCV000919067] ChrX:68840429 [GRCh38]
ChrX:68060272 [GRCh37]
ChrX:Xq13.1
likely benign
NM_004429.4(EFNB1):c.640C>T (p.Gln214Ter) single nucleotide variant not provided [RCV000760830] ChrX:68840253 [GRCh38]
ChrX:68060096 [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_004429.4(EFNB1):c.1005G>A (p.Pro335=) single nucleotide variant not provided [RCV000924765] ChrX:68840618 [GRCh38]
ChrX:68060461 [GRCh37]
ChrX:Xq13.1
likely benign
NM_004429.4(EFNB1):c.565G>A (p.Val189Ile) single nucleotide variant not provided [RCV000899271] ChrX:68840025 [GRCh38]
ChrX:68059868 [GRCh37]
ChrX:Xq13.1
likely benign
NM_004429.4(EFNB1):c.759C>T (p.Leu253=) single nucleotide variant not provided [RCV000949118] ChrX:68840372 [GRCh38]
ChrX:68060215 [GRCh37]
ChrX:Xq13.1
benign
NM_004429.4(EFNB1):c.499+2_499+7del deletion Craniofrontonasal syndrome [RCV000984626] ChrX:68839757..68839762 [GRCh38]
ChrX:68059600..68059605 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.4(EFNB1):c.891C>T (p.Thr297=) single nucleotide variant not provided [RCV000969977] ChrX:68840504 [GRCh38]
ChrX:68060347 [GRCh37]
ChrX:Xq13.1
benign
NM_004429.4(EFNB1):c.597G>T (p.Arg199=) single nucleotide variant not provided [RCV000964100] ChrX:68840057 [GRCh38]
ChrX:68059900 [GRCh37]
ChrX:Xq13.1
likely benign
NM_004429.4(EFNB1):c.732C>T (p.Val244=) single nucleotide variant not provided [RCV000937293] ChrX:68840345 [GRCh38]
ChrX:68060188 [GRCh37]
ChrX:Xq13.1
likely benign
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_004429.4(EFNB1):c.749T>G (p.Ile250Ser) single nucleotide variant Craniofrontonasal syndrome [RCV000785111] ChrX:68840362 [GRCh38]
ChrX:68060205 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_004429.5(EFNB1):c.324dup (p.Arg109fs) duplication not provided [RCV001008114] ChrX:68838811..68838812 [GRCh38]
ChrX:68058654..68058655 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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_004429.5(EFNB1):c.155_159delinsCAAG (p.Ile52fs) indel not provided [RCV001240215] ChrX:68838643..68838647 [GRCh38]
ChrX:68058486..68058490 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_004429.4(EFNB1):c.843G>A (p.Ser281=) single nucleotide variant not provided [RCV000913383] ChrX:68840456 [GRCh38]
ChrX:68060299 [GRCh37]
ChrX:Xq13.1
likely benign
NM_004429.5(EFNB1):c.635_636del (p.Val212fs) microsatellite Craniofrontonasal syndrome [RCV001263202] ChrX:68840246..68840247 [GRCh38]
ChrX:68060089..68060090 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.5(EFNB1):c.182A>G (p.Asp61Gly) single nucleotide variant Craniofrontonasal syndrome [RCV001263204] ChrX:68838670 [GRCh38]
ChrX:68058513 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.5(EFNB1):c.409A>G (p.Thr137Ala) single nucleotide variant not provided [RCV001092800] ChrX:68839666 [GRCh38]
ChrX:68059509 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.5(EFNB1):c.453_454TG[4] (p.Arg154fs) microsatellite Craniofrontonasal syndrome [RCV001174989] ChrX:68839708..68839709 [GRCh38]
ChrX:68059551..68059552 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter) single nucleotide variant Craniofrontonasal syndrome [RCV001194644] ChrX:68829800 [GRCh38]
ChrX:68049643 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_004429.4(EFNB1):c.253C>T (p.Gln85Ter) single nucleotide variant Craniofrontonasal syndrome [RCV001250921] ChrX:68838741 [GRCh38]
ChrX:68058584 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xq13.1(chrX:67822737-68635666)x3 copy number gain not provided [RCV001259001] ChrX:67822737..68635666 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_004429.5(EFNB1):c.334A>G (p.Ile112Val) single nucleotide variant not provided [RCV001311398] ChrX:68838822 [GRCh38]
ChrX:68058665 [GRCh37]
ChrX:Xq13.1
uncertain significance
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_004429.5(EFNB1):c.128+5G>A single nucleotide variant Craniofrontonasal syndrome [RCV001263203] ChrX:68829909 [GRCh38]
ChrX:68049752 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3226 AgrOrtholog
COSMIC EFNB1 COSMIC
Ensembl Genes ENSG00000090776 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000204961 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000204961 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.420 UniProtKB/Swiss-Prot
GTEx ENSG00000090776 GTEx
HGNC ID HGNC:3226 ENTREZGENE
Human Proteome Map EFNB1 Human Proteome Map
InterPro Cupredoxin UniProtKB/Swiss-Prot
  Ephrin UniProtKB/Swiss-Prot
  Ephrin-B_Ecto UniProtKB/Swiss-Prot
  Ephrin_CS UniProtKB/Swiss-Prot
  Ephrin_RBD UniProtKB/Swiss-Prot
KEGG Report hsa:1947 UniProtKB/Swiss-Prot
NCBI Gene 1947 ENTREZGENE
OMIM 300035 OMIM
  304110 OMIM
PANTHER PTHR11304 UniProtKB/Swiss-Prot
Pfam Ephrin UniProtKB/Swiss-Prot
PharmGKB PA27661 PharmGKB
PRINTS EPHRIN UniProtKB/Swiss-Prot
PROSITE EPHRIN_RBD_1 UniProtKB/Swiss-Prot
  EPHRIN_RBD_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49503 UniProtKB/Swiss-Prot
UniProt EFNB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DVU0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-16 EFNB1  ephrin B1  CFNS  craniofrontonasal syndrome (craniofrontonasal dysplasia)  Data Merged 737654 PROVISIONAL
2016-04-12 EFNB1  ephrin B1    ephrin-B1  Symbol and/or name change 5135510 APPROVED
2011-08-16 EFNB1  ephrin-B1  EFNB1  ephrin-B1  Symbol and/or name change 5135510 APPROVED