EYA1 (EYA transcriptional coactivator and phosphatase 1) - Rat Genome Database

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Gene: EYA1 (EYA transcriptional coactivator and phosphatase 1) Homo sapiens
Analyze
Symbol: EYA1
Name: EYA transcriptional coactivator and phosphatase 1
RGD ID: 1317054
HGNC Page HGNC:3519
Description: Enables histone H2AXY142 phosphatase activity. Involved in double-strand break repair; positive regulation of DNA repair; and response to ionizing radiation. Located in cytoplasm and nuclear body. Implicated in branchiootorenal syndrome and branchiootorenal syndrome 1. Biomarker of mitochondrial myopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BOP; BOR; BOS1; eyes absent homolog 1; MGC141875; OFC1
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
GRCh38871,197,433 - 71,548,094 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl871,197,433 - 71,592,025 (-)EnsemblGRCh38hg38GRCh38
GRCh37872,109,668 - 72,460,329 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36872,272,222 - 72,437,021 (-)NCBINCBI36Build 36hg18NCBI36
Build 34872,272,221 - 72,437,021NCBI
Celera868,106,627 - 68,271,433 (-)NCBICelera
Cytogenetic Map8q13.3NCBI
HuRef867,603,371 - 67,768,504 (-)NCBIHuRef
CHM1_1872,164,260 - 72,329,031 (-)NCBICHM1_1
T2T-CHM13v2.0871,626,530 - 71,983,583 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (TAS)
animal organ morphogenesis  (IEA,ISO)
aorta morphogenesis  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IEA,ISO)
cell differentiation  (IBA,IEA)
cell fate commitment  (IEA,ISO)
chromatin organization  (IEA)
chromatin remodeling  (IEA)
cochlea morphogenesis  (IEA,ISO)
columnar/cuboidal epithelial cell differentiation  (ISO)
DNA damage response  (IEA)
DNA repair  (IEA)
double-strand break repair  (IMP)
embryonic skeletal system morphogenesis  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
establishment of mitotic spindle orientation  (ISO)
establishment or maintenance of apical/basal cell polarity  (ISO)
extrinsic apoptotic signaling pathway in absence of ligand  (IEA,ISO)
inner ear morphogenesis  (IEA,ISO)
lung epithelial cell differentiation  (ISO)
mesodermal cell fate specification  (IEA)
metanephros development  (IEA,ISO)
middle ear morphogenesis  (IEA,ISO)
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IBA,IEA,ISO)
neuron fate specification  (IEA,ISO)
otic vesicle development  (IEA,ISO)
otic vesicle morphogenesis  (IEA,ISO)
outer ear morphogenesis  (IEA,ISO)
outflow tract morphogenesis  (IEA,ISO)
pattern specification process  (IEA,ISO)
pharyngeal system development  (IEA,ISO)
positive regulation of DNA repair  (IBA,IEA,IMP)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of Notch signaling pathway  (ISO)
positive regulation of secondary heart field cardioblast proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
protein localization  (ISO)
protein sumoylation  (IEA,ISS)
regulation of neuron differentiation  (IEA,ISO)
response to ionizing radiation  (IDA)
semicircular canal morphogenesis  (IEA,ISO)
sensory perception of sound  (TAS)
striated muscle tissue development  (IEA,ISO)
ureteric bud development  (IEA,ISO)

Cellular Component
cytoplasm  (IDA,IEA)
nuclear body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)
protein-containing complex  (IEA)
protein-DNA complex  (IEA)

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

Human Phenotype
Abnormal anterior chamber morphology  (IAGP)
Abnormal antihelix morphology  (IAGP)
Abnormal cerebral morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal lacrimal duct morphology  (IAGP)
Abnormal middle ear morphology  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal renal collecting system morphology  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the inner ear  (IAGP)
Abnormality of the middle ear ossicles  (IAGP)
Abnormality of the outer ear  (IAGP)
Anteverted nares  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral renal agenesis  (IAGP)
Branchial cyst  (IAGP)
Branchial fistula  (IAGP)
Cholesteatoma  (IAGP)
Cleft palate  (IAGP)
Cochlear malformation  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital hip dislocation  (IAGP)
Cupped ear  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Dilatated internal auditory canal  (IAGP)
Down-sloping shoulders  (IAGP)
Enlarged cochlear aqueduct  (IAGP)
Enlarged vestibular aqueduct  (IAGP)
Euthyroid goiter  (IAGP)
Facial asymmetry  (IAGP)
Facial palsy  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Full cheeks  (IAGP)
Global developmental delay  (IAGP)
Gustatory lacrimation  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the cochlea  (IAGP)
Incomplete partition of the cochlea type II  (IAGP)
Increased overbite  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intestinal malrotation  (IAGP)
Lacrimal duct aplasia  (IAGP)
Lacrimal duct stenosis  (IAGP)
Lacrimation abnormality  (IAGP)
Lip pit  (IAGP)
Long face  (IAGP)
Long neck  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Mild global developmental delay  (IAGP)
Mixed hearing impairment  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Narrow face  (IAGP)
Narrow nose  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Preauricular pit  (IAGP)
Preauricular skin tag  (IAGP)
Prostate cancer  (IAGP)
Protruding ear  (IAGP)
Renal dysplasia  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Renal malrotation  (IAGP)
Renal steatosis  (IAGP)
Retrognathia  (IAGP)
Scapular winging  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Typified by incomplete penetrance  (IAGP)
Unilateral renal agenesis  (IAGP)
Ureteropelvic junction obstruction  (IAGP)
Variable expressivity  (IAGP)
Vesicoureteral reflux  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Abdelhak S, etal., Hum Mol Genet. 1997 Dec;6(13):2247-55.
2. Expression of Eya1 and Six1 is decreased in distal airways of rats with experimental pulmonary hypoplasia. Friedmacher F, etal., J Pediatr Surg. 2014 Feb;49(2):301-4. doi: 10.1016/j.jpedsurg.2013.11.043. Epub 2013 Nov 18.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. Guo C, etal., J Clin Invest. 2011 Apr;121(4):1585-95. doi: 10.1172/JCI44630.
5. EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Okada M, etal., Pediatr Nephrol. 2006 Apr;21(4):475-81. Epub 2006 Feb 21.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Sanggaard KM, etal., Eur J Hum Genet. 2007 Nov;15(11):1121-31. Epub 2007 Jul 18.
12. Muscle-fiber transdifferentiation in an experimental model of respiratory chain myopathy. Venhoff N, etal., Arthritis Res Ther. 2012 Oct 29;14(5):R233.
Additional References at PubMed
PMID:2154751   PMID:7829101   PMID:8889548   PMID:9020840   PMID:9359046   PMID:9428512   PMID:9603436   PMID:9853969   PMID:10464653   PMID:10490620   PMID:10655545   PMID:10991693  
PMID:11409867   PMID:11558900   PMID:11683347   PMID:11734542   PMID:11950062   PMID:12070080   PMID:12404110   PMID:12477932   PMID:12500905   PMID:12701758   PMID:12874121   PMID:15141091  
PMID:15226428   PMID:15489334   PMID:15492887   PMID:15493068   PMID:16005355   PMID:16344560   PMID:16441263   PMID:16691597   PMID:16797546   PMID:16813606   PMID:17049623   PMID:17903308  
PMID:18065799   PMID:18220287   PMID:19206155   PMID:19213029   PMID:19234442   PMID:19240061   PMID:19497856   PMID:19667416   PMID:19789318   PMID:20209935   PMID:20301554   PMID:20634891  
PMID:20956555   PMID:20979191   PMID:21280147   PMID:21873635   PMID:21955869   PMID:22447252   PMID:23144326   PMID:23263983   PMID:23506628   PMID:23601008   PMID:23636126   PMID:23793025  
PMID:23840632   PMID:24688116   PMID:24729159   PMID:24730701   PMID:24752894   PMID:24954506   PMID:25108383   PMID:25640282   PMID:25780253   PMID:25926005   PMID:26186194   PMID:27082308  
PMID:27634302   PMID:27795300   PMID:27880917   PMID:28213359   PMID:28514442   PMID:28583505   PMID:28675297   PMID:29043394   PMID:29496520   PMID:29552445   PMID:30021884   PMID:30086703  
PMID:31102969   PMID:31731191   PMID:32296183   PMID:32717629   PMID:33087562   PMID:33098377   PMID:33920226   PMID:33961781   PMID:34160378   PMID:34196366   PMID:34304489   PMID:34561318  
PMID:34666446   PMID:34773364   PMID:34864618   PMID:35000142   PMID:35046468   PMID:35446969   PMID:35698919   PMID:38360978  


Genomics

Comparative Map Data
EYA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38871,197,433 - 71,548,094 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl871,197,433 - 71,592,025 (-)EnsemblGRCh38hg38GRCh38
GRCh37872,109,668 - 72,460,329 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36872,272,222 - 72,437,021 (-)NCBINCBI36Build 36hg18NCBI36
Build 34872,272,221 - 72,437,021NCBI
Celera868,106,627 - 68,271,433 (-)NCBICelera
Cytogenetic Map8q13.3NCBI
HuRef867,603,371 - 67,768,504 (-)NCBIHuRef
CHM1_1872,164,260 - 72,329,031 (-)NCBICHM1_1
T2T-CHM13v2.0871,626,530 - 71,983,583 (-)NCBIT2T-CHM13v2.0
Eya1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39114,239,177 - 14,381,259 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl114,239,178 - 14,380,459 (-)EnsemblGRCm39 Ensembl
GRCm38114,168,953 - 14,311,035 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl114,168,954 - 14,310,235 (-)EnsemblGRCm38mm10GRCm38
MGSCv37114,159,039 - 14,300,280 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36114,154,172 - 14,295,413 (-)NCBIMGSCv36mm8
Celera114,109,695 - 14,251,151 (-)NCBICelera
Cytogenetic Map1A3NCBI
cM Map14.31NCBI
Eya1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr859,646,599 - 9,884,609 (+)NCBIGRCr8
mRatBN7.254,863,501 - 5,101,483 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl54,955,543 - 5,101,483 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.054,275,728 - 4,495,525 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl54,373,626 - 4,513,142 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.054,252,745 - 4,487,853 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.454,132,825 - 4,276,837 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera54,454,356 - 4,554,997 (+)NCBICelera
Celera54,581,829 - 4,692,568 (+)NCBICelera
Cytogenetic Map5q11NCBI
Eya1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554448,495,530 - 8,655,100 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554448,336,071 - 8,655,041 (+)NCBIChiLan1.0ChiLan1.0
EYA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2786,938,623 - 87,280,457 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1862,568,011 - 62,730,070 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0867,728,057 - 68,060,069 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1869,387,769 - 69,551,829 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl869,387,769 - 69,551,829 (-)Ensemblpanpan1.1panPan2
EYA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12920,176,306 - 20,595,131 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2920,177,014 - 20,525,653 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2920,436,698 - 20,855,121 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02920,275,380 - 20,693,971 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2920,274,650 - 20,771,147 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12920,325,900 - 20,743,158 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02920,378,421 - 20,796,035 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02920,660,077 - 21,078,705 (-)NCBIUU_Cfam_GSD_1.0
Eya1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530358,739,647 - 59,053,061 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936648395,524 - 546,729 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936648395,526 - 546,705 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EYA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl463,970,807 - 64,328,105 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1463,970,939 - 64,328,107 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2469,915,648 - 69,943,761 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EYA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1866,902,961 - 67,238,149 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl866,902,972 - 67,060,567 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603974,161,305 - 74,511,047 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eya1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474419,782,790 - 19,977,335 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474419,782,174 - 19,975,496 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EYA1
397 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000503.6(EYA1):c.1350delinsCC (p.Asn451fs) indel Branchiootorenal syndrome 1 [RCV000008392] Chr8:71216702 [GRCh38]
Chr8:72128937 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.972_973dup (p.Phe325fs) microsatellite Branchiootic syndrome 1 [RCV000008393] Chr8:71269816..71269817 [GRCh38]
Chr8:72182051..72182052 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.398_405del (p.Pro133fs) deletion Branchiootic syndrome 1 [RCV000008394] Chr8:71321747..71321754 [GRCh38]
Chr8:72233982..72233989 [GRCh37]
Chr8:8q13.3
pathogenic
EYA1, ALU INS, EX10 insertion Branchiootorenal syndrome 1 [RCV000008395] Chr8:8q13.3 pathogenic
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) deletion Branchiootorenal syndrome 1 [RCV000008396] Chr8:71211156..71211159 [GRCh38]
Chr8:72123391..72123394 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.489dup (p.Leu164fs) duplication Branchiootorenal syndrome 1 [RCV000008401] Chr8:71317618..71317619 [GRCh38]
Chr8:72229853..72229854 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.639+1G>A single nucleotide variant Melnick-Fraser syndrome [RCV002512904]|Otofaciocervical syndrome 1 [RCV000008404] Chr8:71299637 [GRCh38]
Chr8:72211872 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs) deletion Branchiootic syndrome 1 [RCV000008407] Chr8:71215477..71215483 [GRCh38]
Chr8:72127712..72127718 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.966+5G>A single nucleotide variant Branchiootorenal syndrome 1 [RCV000008408]|Melnick-Fraser syndrome [RCV001851735]|not provided [RCV001569391] Chr8:71271753 [GRCh38]
Chr8:72183988 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1697A>G (p.Lys566Arg) single nucleotide variant not provided [RCV003321106] Chr8:71211157 [GRCh38]
Chr8:72123392 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) single nucleotide variant Branchiootic syndrome 1 [RCV002483377]|Melnick-Fraser syndrome [RCV002231280]|not provided [RCV001853703] Chr8:71322242 [GRCh38]
Chr8:72234477 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV000008391]|EYA1-related condition [RCV003390657]|Melnick-Fraser syndrome [RCV001851734]|Rare genetic deafness [RCV000844696]|not provided [RCV002259304] Chr8:71271802 [GRCh38]
Chr8:72184037 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) single nucleotide variant Branchiooculofacial syndrome [RCV001849260]|Branchiootic syndrome 1 [RCV002288475]|Branchiootorenal syndrome 1 [RCV000008397]|Melnick-Fraser syndrome [RCV002228019]|Rare genetic deafness [RCV000844628] Chr8:71216733 [GRCh38]
Chr8:72128968 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.6(EYA1):c.1639A>G (p.Arg547Gly) single nucleotide variant Anterior segment anomalies and cataract [RCV000008398] Chr8:71211215 [GRCh38]
Chr8:72123450 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1087G>A (p.Glu363Lys) single nucleotide variant Abnormal anterior chamber morphology [RCV000008399] Chr8:71244656 [GRCh38]
Chr8:72156891 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) single nucleotide variant Branchiootic syndrome 1 [RCV000367199]|Branchiootorenal syndrome 1 [RCV000496093]|Branchiootorenal syndrome with cataract [RCV000008400]|Otofaciocervical syndrome 1 [RCV000309264]|not provided [RCV000657911]|not specified [RCV000606853] Chr8:71216776 [GRCh38]
Chr8:72129011 [GRCh37]
Chr8:8q13.3
pathogenic|benign|likely benign|uncertain significance
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) single nucleotide variant Branchiootorenal syndrome 1 [RCV000008402] Chr8:71215630 [GRCh38]
Chr8:72127865 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg) single nucleotide variant Branchiootorenal syndrome 1 [RCV000008403] Chr8:71215470 [GRCh38]
Chr8:72127705 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) single nucleotide variant Branchiootic syndrome 1 [RCV000008405]|Branchiootorenal syndrome 1 [RCV000008406]|Inborn genetic diseases [RCV002512905]|Melnick-Fraser syndrome [RCV002228020]|not provided [RCV001823094] Chr8:71244662 [GRCh38]
Chr8:72156897 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1122del (p.Leu374fs) deletion Rare genetic deafness [RCV000041385] Chr8:71244621 [GRCh38]
Chr8:72156856 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) single nucleotide variant Branchiootic syndrome 1 [RCV001159333]|Branchiootic syndrome 1 [RCV002496656]|Melnick-Fraser syndrome [RCV002513584]|Otofaciocervical syndrome 1 [RCV001164236]|not provided [RCV000842338]|not specified [RCV000041386] Chr8:71216979 [GRCh38]
Chr8:72129214 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) single nucleotide variant Branchiootic syndrome 1 [RCV000391012]|Melnick-Fraser syndrome [RCV001520615]|Otofaciocervical syndrome 1 [RCV000344172]|not provided [RCV001668171]|not specified [RCV000041387] Chr8:71216774 [GRCh38]
Chr8:72129009 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1361-1G>T single nucleotide variant Rare genetic deafness [RCV000041388] Chr8:71215729 [GRCh38]
Chr8:72127964 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn) single nucleotide variant Rare genetic deafness [RCV000041389] Chr8:71215405 [GRCh38]
Chr8:72127640 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1697_1698insT (p.Lys566fs) insertion Rare genetic deafness [RCV000041390] Chr8:71211156..71211157 [GRCh38]
Chr8:72123391..72123392 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1699-3C>T single nucleotide variant Branchiootic syndrome 1 [RCV000371625]|Melnick-Fraser syndrome [RCV001519263]|Otofaciocervical syndrome 1 [RCV000282514]|not provided [RCV000991974]|not specified [RCV000041391] Chr8:71199423 [GRCh38]
Chr8:72111658 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) single nucleotide variant Branchiootic syndrome 1 [RCV000763604]|Focal segmental glomerulosclerosis [RCV001849294]|Rare genetic deafness [RCV000041392]|not provided [RCV002243687] Chr8:71199371 [GRCh38]
Chr8:72111606 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1755T>C (p.His585=) single nucleotide variant Branchiootic syndrome 1 [RCV000370365]|Branchiootorenal syndrome 1 [RCV001701584]|Melnick-Fraser syndrome [RCV001520614]|Otofaciocervical syndrome 1 [RCV000329591]|not provided [RCV001636631]|not specified [RCV000041393] Chr8:71199364 [GRCh38]
Chr8:72111599 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) single nucleotide variant Branchiootic syndrome 1 [RCV000406094]|Melnick-Fraser syndrome [RCV001511613]|Otofaciocervical syndrome 1 [RCV000310360]|not provided [RCV000711621]|not specified [RCV000041394] Chr8:71354848 [GRCh38]
Chr8:72267083 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.813A>G (p.Thr271=) single nucleotide variant Branchiootic syndrome 1 [RCV000292968]|Branchiootorenal syndrome 1 [RCV001701585]|Melnick-Fraser syndrome [RCV001511173]|Otofaciocervical syndrome 1 [RCV000386749]|not provided [RCV001659982]|not specified [RCV000041395] Chr8:71299060 [GRCh38]
Chr8:72211295 [GRCh37]
Chr8:8q13.3
benign
GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1 copy number loss See cases [RCV000050801] Chr8:68488015..71476177 [GRCh38]
Chr8:69400250..72388412 [GRCh37]
Chr8:69562804..72550966 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 copy number gain See cases [RCV000053655] Chr8:70948393..74353284 [GRCh38]
Chr8:71860628..75265519 [GRCh37]
Chr8:72023182..75428074 [NCBI36]
Chr8:8q13.3-21.11
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11
pathogenic
GRCh38/hg38 8q13.3(chr8:71278615-71962825)x1 copy number loss See cases [RCV000054254] Chr8:71278615..71962825 [GRCh38]
Chr8:72190850..72875060 [GRCh37]
Chr8:72353404..73037614 [NCBI36]
Chr8:8q13.3
pathogenic
NM_000503.5(EYA1):c.1745C>G (p.Ala582Gly) single nucleotide variant Malignant melanoma [RCV000068383] Chr8:71199374 [GRCh38]
Chr8:72111609 [GRCh37]
Chr8:72274163 [NCBI36]
Chr8:8q13.3
not provided
NM_000503.5(EYA1):c.116G>A (p.Gly39Asp) single nucleotide variant Malignant melanoma [RCV000068384] Chr8:71354790 [GRCh38]
Chr8:72267025 [GRCh37]
Chr8:72429579 [NCBI36]
Chr8:8q13.3
not provided
NM_000503.6(EYA1):c.1107G>T (p.Leu369Phe) single nucleotide variant Malignant tumor of prostate [RCV000149002] Chr8:71244636 [GRCh38]
Chr8:72156871 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh38/hg38 8q13.3(chr8:71186873-71428549)x1 copy number loss See cases [RCV000135323] Chr8:71186873..71428549 [GRCh38]
Chr8:72099108..72340784 [GRCh37]
Chr8:72261662..72503338 [NCBI36]
Chr8:8q13.3
pathogenic
GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1 copy number loss See cases [RCV000134801] Chr8:68987881..71640028 [GRCh38]
Chr8:69900116..72552263 [GRCh37]
Chr8:70062670..72714817 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
NM_000503.6(EYA1):c.1699-8T>C single nucleotide variant Branchiootic syndrome 1 [RCV000318814]|Melnick-Fraser syndrome [RCV002229004]|Otofaciocervical syndrome 1 [RCV000378076]|not provided [RCV000724414]|not specified [RCV000175273] Chr8:71199428 [GRCh38]
Chr8:72111663 [GRCh37]
Chr8:8q13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1 copy number loss See cases [RCV000138251] Chr8:68987835..71663466 [GRCh38]
Chr8:69900070..72575701 [GRCh37]
Chr8:70062624..72738255 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn) single nucleotide variant Branchiootic syndrome 1 [RCV000371539]|EYA1-related condition [RCV003407581]|Otofaciocervical syndrome 1 [RCV000281370]|not specified [RCV000156019] Chr8:71321853 [GRCh38]
Chr8:72234088 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.1475+1G>C single nucleotide variant Branchiootic syndrome 1 [RCV002498692]|Rare genetic deafness [RCV000150668] Chr8:71215613 [GRCh38]
Chr8:72127848 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1425C>T (p.Thr475=) single nucleotide variant not specified [RCV000150669] Chr8:71215664 [GRCh38]
Chr8:72127899 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1402A>G (p.Arg468Gly) single nucleotide variant not specified [RCV000150670] Chr8:71215687 [GRCh38]
Chr8:72127922 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1360+2C>T single nucleotide variant not specified [RCV000150671] Chr8:71216690 [GRCh38]
Chr8:72128925 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1295G>A (p.Arg432Lys) single nucleotide variant not specified [RCV000150672] Chr8:71216757 [GRCh38]
Chr8:72128992 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1199+13G>T single nucleotide variant Branchiootic syndrome 1 [RCV001164235]|Melnick-Fraser syndrome [RCV002055968]|Otofaciocervical syndrome 1 [RCV001164234]|not specified [RCV000150673] Chr8:71216952 [GRCh38]
Chr8:72129187 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg) single nucleotide variant Branchiootic syndrome 1 [RCV002492554]|not specified [RCV000150674] Chr8:71216978 [GRCh38]
Chr8:72129213 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1141-15T>G single nucleotide variant Branchiootic syndrome 1 [RCV000300934]|Branchiootic syndrome 1 [RCV002483306]|Melnick-Fraser syndrome [RCV002055969]|Otofaciocervical syndrome 1 [RCV000355642]|not provided [RCV001564379]|not specified [RCV000150675] Chr8:71217038 [GRCh38]
Chr8:72129273 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) single nucleotide variant Branchiootic syndrome 1 [RCV002478424]|Inborn genetic diseases [RCV002516024]|Melnick-Fraser syndrome [RCV002055971]|not provided [RCV001577879]|not specified [RCV000150677] Chr8:71354799 [GRCh38]
Chr8:72267034 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) single nucleotide variant Branchiootic syndrome 1 [RCV002505146]|not specified [RCV000150678] Chr8:71354841 [GRCh38]
Chr8:72267076 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_172058.2(EYA1):c.(?_-66)_(*76_?)del deletion Rare genetic deafness [RCV000150667] Chr8:71199264..71356523 [GRCh38]
Chr8:72111499..72268758 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.840C>A (p.Ile280=) single nucleotide variant Branchiootic syndrome 1 [RCV000346226]|Branchiootic syndrome 1 [RCV002498693]|Melnick-Fraser syndrome [RCV002055970]|Otofaciocervical syndrome 1 [RCV000291346]|not provided [RCV000991975]|not specified [RCV000150676] Chr8:71271884 [GRCh38]
Chr8:72184119 [GRCh37]
Chr8:8q13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000503.6(EYA1):c.744G>A (p.Thr248=) single nucleotide variant Branchiootic syndrome 1 [RCV000393752]|Melnick-Fraser syndrome [RCV002229377]|Otofaciocervical syndrome 1 [RCV000299862]|not specified [RCV000155361] Chr8:71299129 [GRCh38]
Chr8:72211364 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.428G>A (p.Trp143Ter) single nucleotide variant Rare genetic deafness [RCV000155629] Chr8:71317680 [GRCh38]
Chr8:72229915 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) single nucleotide variant Branchiootic syndrome 1 [RCV000392984]|Branchiootorenal syndrome 1 [RCV000416584]|Melnick-Fraser syndrome [RCV001496619]|not provided [RCV001533843]|not specified [RCV000155446] Chr8:71334135 [GRCh38]
Chr8:72246370 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.548A>G (p.Gln183Arg) single nucleotide variant Branchiootic syndrome 1 [RCV002503694]|not provided [RCV000179762] Chr8:71317560 [GRCh38]
Chr8:72229795 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1117_1118del (p.His373fs) microsatellite not provided [RCV000255636] Chr8:71244625..71244626 [GRCh38]
Chr8:72156860..72156861 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp) single nucleotide variant Branchiootic syndrome 1 [RCV002485385]|not specified [RCV000219608] Chr8:71216734 [GRCh38]
Chr8:72128969 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn) single nucleotide variant Branchiootic syndrome 1 [RCV002494567]|not specified [RCV000221919] Chr8:71215663 [GRCh38]
Chr8:72127898 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) single nucleotide variant Branchiootic syndrome 1 [RCV002485380]|not provided [RCV001589113]|not specified [RCV000217676] Chr8:71215712 [GRCh38]
Chr8:72127947 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.396_406del (p.Gln132fs) deletion Rare genetic deafness [RCV000215585] Chr8:71321746..71321756 [GRCh38]
Chr8:72233981..72233991 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) single nucleotide variant Melnick-Fraser syndrome [RCV002518414]|Renal hypoplasia [RCV000234887] Chr8:71354785 [GRCh38]
Chr8:72267020 [GRCh37]
Chr8:8q13.3
likely pathogenic|benign|uncertain significance
NM_000503.6(EYA1):c.-24G>T single nucleotide variant Branchiootic syndrome 1 [RCV002503853]|not specified [RCV000218571] Chr8:71356481 [GRCh38]
Chr8:72268716 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1090G>T (p.Glu364Ter) single nucleotide variant Rare genetic deafness [RCV000221224] Chr8:71244653 [GRCh38]
Chr8:72156888 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1598-15A>G single nucleotide variant Branchiootic syndrome 1 [RCV001160587]|Branchiootic syndrome 1 [RCV002500688]|Melnick-Fraser syndrome [RCV002517452]|Otofaciocervical syndrome 1 [RCV001160586]|not specified [RCV000216466] Chr8:71211271 [GRCh38]
Chr8:72123506 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) single nucleotide variant Branchiootic syndrome 1 [RCV000289230]|Developmental cataract [RCV001775005]|EYA1-related condition [RCV003401130]|Melnick-Fraser syndrome [RCV001401859]|Otofaciocervical syndrome 1 [RCV000401819]|not provided [RCV000488133]|not specified [RCV000214933] Chr8:71215629 [GRCh38]
Chr8:72127864 [GRCh37]
Chr8:8q13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_172058.2(EYA1):c.(?_1598-56)_(*1968_?)del deletion Rare genetic deafness [RCV000219184] Chr8:71197372..71211312 [GRCh38]
Chr8:72109607..72123547 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.896C>A (p.Ser299Ter) single nucleotide variant Rare genetic deafness [RCV000219278] Chr8:71271828 [GRCh38]
Chr8:72184063 [GRCh37]
Chr8:8q13.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1 copy number loss See cases [RCV000240421] Chr8:69955127..72552241 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
NM_000503.6(EYA1):c.556+18G>T single nucleotide variant Melnick-Fraser syndrome [RCV002058435]|not specified [RCV000246999] Chr8:71317534 [GRCh38]
Chr8:72229769 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13
likely pathogenic
NM_000503.6(EYA1):c.*1310G>A single nucleotide variant Branchiootic syndrome 1 [RCV000323236]|Otofaciocervical syndrome 1 [RCV000268238] Chr8:71198030 [GRCh38]
Chr8:72110265 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.*442G>A single nucleotide variant Branchiootic syndrome 1 [RCV000406816]|Otofaciocervical syndrome 1 [RCV000284946] Chr8:71198898 [GRCh38]
Chr8:72111133 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*1890A>G single nucleotide variant Branchiootic syndrome 1 [RCV000346953]|Otofaciocervical syndrome 1 [RCV000285011] Chr8:71197450 [GRCh38]
Chr8:72109685 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.-191C>G single nucleotide variant Branchiootic syndrome 1 [RCV000342447]|Otofaciocervical syndrome 1 [RCV000285097] Chr8:71361783 [GRCh38]
Chr8:72274018 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.*1324T>C single nucleotide variant Branchiootic syndrome 1 [RCV000322218]|Otofaciocervical syndrome 1 [RCV000376825] Chr8:71198016 [GRCh38]
Chr8:72110251 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.630T>C (p.Ser210=) single nucleotide variant Branchiootic syndrome 1 [RCV000270758]|Otofaciocervical syndrome 1 [RCV000326002]|not provided [RCV000487501] Chr8:71299647 [GRCh38]
Chr8:72211882 [GRCh37]
Chr8:8q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) single nucleotide variant Branchiootic syndrome 1 [RCV000326184]|Melnick-Fraser syndrome [RCV002524575]|Otofaciocervical syndrome 1 [RCV000380843]|not provided [RCV002221531]|not specified [RCV000610919] Chr8:71271834 [GRCh38]
Chr8:72184069 [GRCh37]
Chr8:8q13.3
benign|likely benign|uncertain significance
NM_000503.6(EYA1):c.*1263C>T single nucleotide variant Branchiootic syndrome 1 [RCV000347740]|Otofaciocervical syndrome 1 [RCV000383476] Chr8:71198077 [GRCh38]
Chr8:72110312 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.557-12A>G single nucleotide variant Branchiootic syndrome 1 [RCV000385276]|Melnick-Fraser syndrome [RCV003114518]|Otofaciocervical syndrome 1 [RCV000272136] Chr8:71299732 [GRCh38]
Chr8:72211967 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.-454G>A single nucleotide variant Branchiootic syndrome 1 [RCV000288443]|Otofaciocervical syndrome 1 [RCV000380505] Chr8:71362046 [GRCh38]
Chr8:72274281 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.*1275G>A single nucleotide variant Branchiootic syndrome 1 [RCV000382547]|Otofaciocervical syndrome 1 [RCV000288144] Chr8:71198065 [GRCh38]
Chr8:72110300 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.648G>A (p.Pro216=) single nucleotide variant Branchiootic syndrome 1 [RCV000306030]|Melnick-Fraser syndrome [RCV000864718]|Otofaciocervical syndrome 1 [RCV000360715]|not provided [RCV001613215] Chr8:71299225 [GRCh38]
Chr8:72211460 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.*784T>C single nucleotide variant Branchiootic syndrome 1 [RCV000380922]|Otofaciocervical syndrome 1 [RCV000326265] Chr8:71198556 [GRCh38]
Chr8:72110791 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.159T>C (p.Ala53=) single nucleotide variant Branchiootic syndrome 1 [RCV000307094]|Otofaciocervical syndrome 1 [RCV000364060] Chr8:71334140 [GRCh38]
Chr8:72246375 [GRCh37]
Chr8:8q13.3
benign|likely benign|uncertain significance
NM_000503.6(EYA1):c.*1672T>A single nucleotide variant Branchiootic syndrome 1 [RCV000391413]|Otofaciocervical syndrome 1 [RCV000307492] Chr8:71197668 [GRCh38]
Chr8:72109903 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.783G>A (p.Pro261=) single nucleotide variant Branchiootic syndrome 1 [RCV000352556]|Melnick-Fraser syndrome [RCV002524576]|Otofaciocervical syndrome 1 [RCV000393750]|not provided [RCV001643098] Chr8:71299090 [GRCh38]
Chr8:72211325 [GRCh37]
Chr8:8q13.3
benign|likely benign|uncertain significance
NM_000503.6(EYA1):c.*23G>A single nucleotide variant Branchiootic syndrome 1 [RCV000274546]|Otofaciocervical syndrome 1 [RCV000365440]|not provided [RCV001564779] Chr8:71199317 [GRCh38]
Chr8:72111552 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.-75G>C single nucleotide variant Branchiootic syndrome 1 [RCV000259491]|Otofaciocervical syndrome 1 [RCV000317131] Chr8:71361667 [GRCh38]
Chr8:72273902 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1200-11C>A single nucleotide variant Branchiootic syndrome 1 [RCV000354351]|Branchiootic syndrome 1 [RCV002481246]|Melnick-Fraser syndrome [RCV002058747]|Otofaciocervical syndrome 1 [RCV000259714]|not provided [RCV001653738]|not specified [RCV000606025] Chr8:71216863 [GRCh38]
Chr8:72129098 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.-47C>A single nucleotide variant Branchiootic syndrome 1 [RCV000367412]|Otofaciocervical syndrome 1 [RCV000275239] Chr8:71356504 [GRCh38]
Chr8:72268739 [GRCh37]
Chr8:8q13.3
benign|likely benign|uncertain significance
NM_000503.6(EYA1):c.1701C>T (p.His567=) single nucleotide variant Branchiootic syndrome 1 [RCV000275784]|Otofaciocervical syndrome 1 [RCV000316946] Chr8:71199418 [GRCh38]
Chr8:72111653 [GRCh37]
Chr8:8q13.3
benign|uncertain significance
NM_000503.6(EYA1):c.*86C>A single nucleotide variant Branchiootic syndrome 1 [RCV000310754]|Otofaciocervical syndrome 1 [RCV000404147] Chr8:71199254 [GRCh38]
Chr8:72111489 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.*1581G>A single nucleotide variant Branchiootic syndrome 1 [RCV000310975]|Otofaciocervical syndrome 1 [RCV000368097] Chr8:71197759 [GRCh38]
Chr8:72109994 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.-49A>G single nucleotide variant Branchiootic syndrome 1 [RCV000332318]|Otofaciocervical syndrome 1 [RCV000370606] Chr8:71356506 [GRCh38]
Chr8:72268741 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.*1217TTA[1] microsatellite Branchiootorenal Spectrum Disorders [RCV000348756]|Otofaciocervical syndrome 1 [RCV000293814] Chr8:71198118..71198120 [GRCh38]
Chr8:72110353..72110355 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.-263C>T single nucleotide variant Branchiootic syndrome 1 [RCV000368261]|Otofaciocervical syndrome 1 [RCV000311217] Chr8:71361855 [GRCh38]
Chr8:72274090 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.325T>C (p.Tyr109His) single nucleotide variant Branchiootic syndrome 1 [RCV000335524]|EYA1-related condition [RCV003418082]|Melnick-Fraser syndrome [RCV001850927]|Otofaciocervical syndrome 1 [RCV000294529]|not provided [RCV000729909] Chr8:71321827 [GRCh38]
Chr8:72234062 [GRCh37]
Chr8:8q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000503.6(EYA1):c.1258T>C (p.Leu420=) single nucleotide variant Branchiootic syndrome 1 [RCV000391003]|Otofaciocervical syndrome 1 [RCV000313559] Chr8:71216794 [GRCh38]
Chr8:72129029 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.-326G>T single nucleotide variant Branchiootic syndrome 1 [RCV000262421]|Otofaciocervical syndrome 1 [RCV000354886] Chr8:71361918 [GRCh38]
Chr8:72274153 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*509_*512del deletion Branchiootorenal Spectrum Disorders [RCV000338465]|Otofaciocervical syndrome 1 [RCV000278625] Chr8:71198828..71198831 [GRCh38]
Chr8:72111063..72111066 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.*1222A>C single nucleotide variant Branchiootic syndrome 1 [RCV000313802]|Otofaciocervical syndrome 1 [RCV000393641] Chr8:71198118 [GRCh38]
Chr8:72110353 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.*705G>T single nucleotide variant Branchiootic syndrome 1 [RCV000386098]|Otofaciocervical syndrome 1 [RCV000296378] Chr8:71198635 [GRCh38]
Chr8:72110870 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.-271G>A single nucleotide variant Branchiootic syndrome 1 [RCV000391876]|Otofaciocervical syndrome 1 [RCV000297599] Chr8:71361863 [GRCh38]
Chr8:72274098 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.203-15G>T single nucleotide variant Branchiootic syndrome 1 [RCV000400659]|Otofaciocervical syndrome 1 [RCV000338716] Chr8:71322283 [GRCh38]
Chr8:72234518 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.743C>T (p.Thr248Met) single nucleotide variant Branchiootic syndrome 1 [RCV000264927]|Otofaciocervical syndrome 1 [RCV000359341] Chr8:71299130 [GRCh38]
Chr8:72211365 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.*848G>A single nucleotide variant Branchiootic syndrome 1 [RCV000265112]|Otofaciocervical syndrome 1 [RCV000301652] Chr8:71198492 [GRCh38]
Chr8:72110727 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*353C>T single nucleotide variant Branchiootic syndrome 1 [RCV000406823]|Otofaciocervical syndrome 1 [RCV000339983] Chr8:71198987 [GRCh38]
Chr8:72111222 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.966+4C>T single nucleotide variant Branchiootic syndrome 1 [RCV000320305]|Branchiootic syndrome 1 [RCV002502397]|Melnick-Fraser syndrome [RCV002229991]|Otofaciocervical syndrome 1 [RCV000265647]|not provided [RCV001561159]|not specified [RCV000603442] Chr8:71271754 [GRCh38]
Chr8:72183989 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) single nucleotide variant Branchiootic syndrome 1 [RCV000334904]|Melnick-Fraser syndrome [RCV002230717]|Otofaciocervical syndrome 1 [RCV000298837]|not provided [RCV001653739]|not specified [RCV000607831] Chr8:71299091 [GRCh38]
Chr8:72211326 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) single nucleotide variant Branchiootic syndrome 1 [RCV000266374]|Branchiootic syndrome 1 [RCV002504191]|Melnick-Fraser syndrome [RCV002523699]|Otofaciocervical syndrome 1 [RCV000379541] Chr8:71271801 [GRCh38]
Chr8:72184036 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.*800T>C single nucleotide variant Branchiootic syndrome 1 [RCV000361030]|Otofaciocervical syndrome 1 [RCV000266444] Chr8:71198540 [GRCh38]
Chr8:72110775 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1475+15G>A single nucleotide variant Branchiootic syndrome 1 [RCV000283578]|Melnick-Fraser syndrome [RCV001861332]|Otofaciocervical syndrome 1 [RCV000343146] Chr8:71215599 [GRCh38]
Chr8:72127834 [GRCh37]
Chr8:8q13.3
benign|likely benign|uncertain significance
NM_000503.6(EYA1):c.-340G>T single nucleotide variant Branchiootic syndrome 1 [RCV000319661]|Otofaciocervical syndrome 1 [RCV000358135]|not provided [RCV002512096] Chr8:71361932 [GRCh38]
Chr8:72274167 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.*1561ATCA[3] microsatellite Branchiootorenal Spectrum Disorders [RCV000300595]|Otofaciocervical syndrome 1 [RCV000261736] Chr8:71197771..71197772 [GRCh38]
Chr8:72110006..72110007 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.*1372_*1375dup duplication Branchiootorenal Spectrum Disorders [RCV000262420]|Otofaciocervical syndrome 1 [RCV000353172] Chr8:71197964..71197965 [GRCh38]
Chr8:72110199..72110200 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*770_*773dup duplication Branchiootorenal Spectrum Disorders [RCV000272473]|Otofaciocervical syndrome 1 [RCV000331638] Chr8:71198566..71198567 [GRCh38]
Chr8:72110801..72110802 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.-155G>A single nucleotide variant Branchiootic syndrome 1 [RCV000374262]|Otofaciocervical syndrome 1 [RCV000282028] Chr8:71361747 [GRCh38]
Chr8:72273982 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*901dup duplication Branchiootorenal Spectrum Disorders [RCV000355286]|Otofaciocervical syndrome 1 [RCV000300847] Chr8:71198438..71198439 [GRCh38]
Chr8:72110673..72110674 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.418+1G>A single nucleotide variant not provided [RCV000315563] Chr8:71321733 [GRCh38]
Chr8:72233968 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.-429G>A single nucleotide variant Branchiootic syndrome 1 [RCV000265903]|Otofaciocervical syndrome 1 [RCV000323302] Chr8:71362021 [GRCh38]
Chr8:72274256 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) single nucleotide variant Branchiootic syndrome 1 [RCV001159420]|Branchiootorenal syndrome 1 [RCV000490264]|Melnick-Fraser syndrome [RCV001853384]|Otofaciocervical syndrome 1 [RCV001159421]|not provided [RCV002508199]|not specified [RCV000825655] Chr8:71321749 [GRCh38]
Chr8:72233984 [GRCh37]
Chr8:8q13.3
benign|likely benign|uncertain significance
NM_000503.6(EYA1):c.1140+69A>G single nucleotide variant not provided [RCV001567520] Chr8:71244534 [GRCh38]
Chr8:72156769 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) single nucleotide variant Branchiootorenal syndrome 1 [RCV000490441]|not provided [RCV003144163] Chr8:71299202 [GRCh38]
Chr8:72211437 [GRCh37]
Chr8:8q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000503.5(EYA1):c.-590C>A single nucleotide variant Branchiootorenal Spectrum Disorders [RCV000392551]|Otofaciocervical syndrome 1 [RCV000302554] Chr8:71362182 [GRCh38]
Chr8:72274417 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.5(EYA1):c.-564_-563delAG deletion Branchiootorenal Spectrum Disorders [RCV000292091]|Otofaciocervical syndrome 1 [RCV000349268] Chr8:71362154..71362155 [GRCh38]
Chr8:72274389..72274390 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.196G>T (p.Gly66Cys) single nucleotide variant Branchiootic syndrome 1 [RCV000342060]|Otofaciocervical syndrome 1 [RCV000303649] Chr8:71334103 [GRCh38]
Chr8:72246338 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.-242T>G single nucleotide variant Branchiootic syndrome 1 [RCV000346295]|Otofaciocervical syndrome 1 [RCV000391874] Chr8:71361834 [GRCh38]
Chr8:72274069 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.556+5G>C single nucleotide variant Branchiootic syndrome 1 [RCV000331865]|Otofaciocervical syndrome 1 [RCV000388851] Chr8:71317547 [GRCh38]
Chr8:72229782 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*117G>A single nucleotide variant Branchiootic syndrome 1 [RCV000364394]|Branchiootic syndrome 1 [RCV002481245]|Otofaciocervical syndrome 1 [RCV000304804] Chr8:71199223 [GRCh38]
Chr8:72111458 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*545C>T single nucleotide variant Branchiootic syndrome 1 [RCV000332673]|Otofaciocervical syndrome 1 [RCV000373244] Chr8:71198795 [GRCh38]
Chr8:72111030 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.5(EYA1):c.-588_-587delAA deletion Branchiootorenal Spectrum Disorders [RCV000402343]|Otofaciocervical syndrome 1 [RCV000295644] Chr8:71362156..71362157 [GRCh38]
Chr8:72274391..72274392 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.-173G>T single nucleotide variant Branchiootic syndrome 1 [RCV000320830]|Otofaciocervical syndrome 1 [RCV000377716] Chr8:71361765 [GRCh38]
Chr8:72274000 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*1135_*1138dup duplication Branchiootorenal Spectrum Disorders [RCV000393653]|Otofaciocervical syndrome 1 [RCV000335957] Chr8:71198201..71198202 [GRCh38]
Chr8:72110436..72110437 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*1598A>C single nucleotide variant Branchiootic syndrome 1 [RCV000350690]|Otofaciocervical syndrome 1 [RCV000403560] Chr8:71197742 [GRCh38]
Chr8:72109977 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.5(EYA1):c.-588_-587dup duplication Branchiootorenal Spectrum Disorders [RCV000401334]|Otofaciocervical syndrome 1 [RCV000351744] Chr8:71362155..71362156 [GRCh38]
Chr8:72274390..72274391 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.5(EYA1):c.*1914T>G single nucleotide variant Branchiootorenal Spectrum Disorders [RCV000308373]|Otofaciocervical syndrome 1 [RCV000267208] Chr8:71197426 [GRCh38]
Chr8:72109661 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV000625536]|Melnick-Fraser syndrome [RCV002233903] Chr8:71269746 [GRCh38]
Chr8:72181981 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.5(EYA1):c.-589C>A single nucleotide variant Branchiootorenal Spectrum Disorders [RCV000337642]|Otofaciocervical syndrome 1 [RCV000299106] Chr8:71362181 [GRCh38]
Chr8:72274416 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.-192G>A single nucleotide variant Branchiootic syndrome 1 [RCV000289045]|Otofaciocervical syndrome 1 [RCV000399641] Chr8:71361784 [GRCh38]
Chr8:72274019 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.5(EYA1):c.-508A>G single nucleotide variant Branchiootorenal Spectrum Disorders [RCV000326952]|Otofaciocervical syndrome 1 [RCV000383898] Chr8:71362100 [GRCh38]
Chr8:72274335 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala) single nucleotide variant Branchiootic syndrome 1 [RCV002481735]|not provided [RCV000522348] Chr8:71322236 [GRCh38]
Chr8:72234471 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.241C>T (p.Gln81Ter) single nucleotide variant Rare genetic deafness [RCV000600507] Chr8:71322230 [GRCh38]
Chr8:72234465 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.557-11T>A single nucleotide variant Melnick-Fraser syndrome [RCV002072154]|not provided [RCV001564686] Chr8:71299731 [GRCh38]
Chr8:72211966 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter) single nucleotide variant not provided [RCV000733277] Chr8:71299675 [GRCh38]
Chr8:72211910 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1140+4_1140+7del deletion Melnick-Fraser syndrome [RCV002231039]|not provided [RCV001770415] Chr8:71244596..71244599 [GRCh38]
Chr8:72156831..72156834 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1543T>C (p.Tyr515His) single nucleotide variant not provided [RCV001572152] Chr8:71215441 [GRCh38]
Chr8:72127676 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.3(chr8:72211317-72226125)x1 copy number loss See cases [RCV000454182] Chr8:72211317..72226125 [GRCh37]
Chr8:8q13.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000446721] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71077789-72943097)x3 copy number gain See cases [RCV000446539] Chr8:71077789..72943097 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1531A>T (p.Lys511Ter) single nucleotide variant not provided [RCV000420560] Chr8:71215453 [GRCh38]
Chr8:72127688 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) single nucleotide variant Branchiootic syndrome 1 [RCV000477858] Chr8:71211239 [GRCh38]
Chr8:72123474 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1714dup (p.Trp572fs) duplication not provided [RCV000486264] Chr8:71199404..71199405 [GRCh38]
Chr8:72111639..72111640 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.202+1G>A single nucleotide variant not provided [RCV000498986] Chr8:71334096 [GRCh38]
Chr8:72246331 [GRCh37]
Chr8:8q13.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000510185] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) single nucleotide variant Branchiootic syndrome 1 [RCV001568416]|Branchiootic syndrome 1 [RCV002481568]|EYA1-related condition [RCV003403141]|Melnick-Fraser syndrome [RCV000695248]|not provided [RCV000492842] Chr8:71271835 [GRCh38]
Chr8:72184070 [GRCh37]
Chr8:8q13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) single nucleotide variant Branchiootic syndrome 1 [RCV001160700]|Hearing impairment [RCV001375139]|Melnick-Fraser syndrome [RCV001854090]|Otofaciocervical syndrome 1 [RCV000988072]|not provided [RCV000595354]|not specified [RCV000825755] Chr8:71271859 [GRCh38]
Chr8:72184094 [GRCh37]
Chr8:8q13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000503.6(EYA1):c.88A>G (p.Ile30Val) single nucleotide variant not specified [RCV000607103] Chr8:71354818 [GRCh38]
Chr8:72267053 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) single nucleotide variant Melnick-Fraser syndrome [RCV002231040] Chr8:71211170 [GRCh38]
Chr8:72123405 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.966+8A>G single nucleotide variant not specified [RCV000615461] Chr8:71271750 [GRCh38]
Chr8:72183985 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.640-15_698del deletion Melnick-Fraser syndrome [RCV002231282]|not provided [RCV002274059] Chr8:71299175..71299248 [GRCh38]
Chr8:72211410..72211483 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.6(EYA1):c.967-13T>C single nucleotide variant not specified [RCV000610728] Chr8:71269836 [GRCh38]
Chr8:72182071 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.418+3G>C single nucleotide variant Melnick-Fraser syndrome [RCV002231281] Chr8:71321731 [GRCh38]
Chr8:72233966 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.605del (p.Leu202fs) deletion not provided [RCV000627570] Chr8:71299672 [GRCh38]
Chr8:72211907 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1670G>C (p.Gly557Ala) single nucleotide variant Inborn genetic diseases [RCV003289943] Chr8:71211184 [GRCh38]
Chr8:72123419 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1734G>A (p.Ser578=) single nucleotide variant not provided [RCV000907509]|not specified [RCV000609258] Chr8:71199385 [GRCh38]
Chr8:72111620 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.758A>G (p.Asn253Ser) single nucleotide variant not provided [RCV000520903] Chr8:71299115 [GRCh38]
Chr8:72211350 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) single nucleotide variant Branchiootic syndrome 1 [RCV002481654]|Melnick-Fraser syndrome [RCV002524971]|not provided [RCV000512945]|not specified [RCV000609247] Chr8:71317617 [GRCh38]
Chr8:72229852 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) deletion Melnick-Fraser syndrome [RCV002233959] Chr8:71269774..71269777 [GRCh38]
Chr8:72182009..72182012 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1609T>C (p.Cys537Arg) single nucleotide variant Melnick-Fraser syndrome [RCV002234430] Chr8:71211245 [GRCh38]
Chr8:72123480 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1329_1330del (p.Glu443fs) microsatellite Melnick-Fraser syndrome [RCV002234431] Chr8:71216722..71216723 [GRCh38]
Chr8:72128957..72128958 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.532del (p.Ala178fs) deletion Melnick-Fraser syndrome [RCV002233960] Chr8:71317576 [GRCh38]
Chr8:72229811 [GRCh37]
Chr8:8q13.3
pathogenic
NC_000008.11:g.(?_71244583)_(71322288_?)del deletion Branchiootorenal syndrome 1 [RCV000634149]|Melnick-Fraser syndrome [RCV001387708] Chr8:71244583..71322288 [GRCh38]
Chr8:72156818..72234523 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val) single nucleotide variant Branchiootorenal syndrome 1 [RCV000678554] Chr8:71215461 [GRCh38]
Chr8:72127696 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser) single nucleotide variant not provided [RCV000681783] Chr8:71215501 [GRCh38]
Chr8:72127736 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1597+1G>A single nucleotide variant Branchiootic syndrome 1 [RCV002485576]|not provided [RCV000681785] Chr8:71215386 [GRCh38]
Chr8:72127621 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn) single nucleotide variant not provided [RCV000681904] Chr8:71299233 [GRCh38]
Chr8:72211468 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg) single nucleotide variant not provided [RCV000681852] Chr8:71215387 [GRCh38]
Chr8:72127622 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV002470952]|Melnick-Fraser syndrome [RCV002232861] Chr8:71299191 [GRCh38]
Chr8:72211426 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1654GTT[1] (p.Val553del) microsatellite Melnick-Fraser syndrome [RCV002232989] Chr8:71211195..71211197 [GRCh38]
Chr8:72123430..72123432 [GRCh37]
Chr8:8q13.3
uncertain significance
NC_000008.11:g.(?_71199320)_(71356506_?)del deletion Branchiootorenal syndrome 1 [RCV000708404]|Melnick-Fraser syndrome [RCV001387707] Chr8:71199320..71356506 [GRCh38]
Chr8:72111555..72268741 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1200-1G>A single nucleotide variant Melnick-Fraser syndrome [RCV002233368] Chr8:71216853 [GRCh38]
Chr8:72129088 [GRCh37]
Chr8:8q13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:72190320-72205191)x1 copy number loss not provided [RCV000747640] Chr8:72190320..72205191 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72201726-72213290)x3 copy number gain not provided [RCV000747641] Chr8:72201726..72213290 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72201726-72214222)x3 copy number gain not provided [RCV000747642] Chr8:72201726..72214222 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72201726-72217690)x3 copy number gain not provided [RCV000747643] Chr8:72201726..72217690 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72202074-72217690)x3 copy number gain not provided [RCV000747644] Chr8:72202074..72217690 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72202625-72217665)x3 copy number gain not provided [RCV000747645] Chr8:72202625..72217665 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72202968-72217690)x3 copy number gain not provided [RCV000747646] Chr8:72202968..72217690 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72204125-72217690)x3 copy number gain not provided [RCV000747647] Chr8:72204125..72217690 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72211178-72217690)x1 copy number loss not provided [RCV000747648] Chr8:72211178..72217690 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72214786-72225252)x0 copy number loss not provided [RCV000747649] Chr8:72214786..72225252 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72214786-72225345)x1 copy number loss not provided [RCV000747650] Chr8:72214786..72225345 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72259845-72272544)x3 copy number gain not provided [RCV000747651] Chr8:72259845..72272544 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:72259845-72280705)x3 copy number gain not provided [RCV000747652] Chr8:72259845..72280705 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1699-23A>G single nucleotide variant Branchiootic syndrome 1 [RCV001703048]|Branchiootorenal syndrome 1 [RCV001703047]|Otofaciocervical syndrome 1 [RCV001702960]|not provided [RCV001672170] Chr8:71199443 [GRCh38]
Chr8:72111678 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1050+113G>A single nucleotide variant not provided [RCV001665983] Chr8:71269627 [GRCh38]
Chr8:72181862 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.418+225T>C single nucleotide variant not provided [RCV001680243] Chr8:71321509 [GRCh38]
Chr8:72233744 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.125-13T>C single nucleotide variant Branchiootic syndrome 1 [RCV002501881]|Melnick-Fraser syndrome [RCV002072011]|not provided [RCV001547538] Chr8:71334187 [GRCh38]
Chr8:72246422 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) single nucleotide variant Branchiootic syndrome 1 [RCV002493396]|Melnick-Fraser syndrome [RCV002533911]|not provided [RCV000762522] Chr8:71354880 [GRCh38]
Chr8:72267115 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.-4-284C>G single nucleotide variant not provided [RCV001545973] Chr8:71355193 [GRCh38]
Chr8:72267428 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1425del (p.Asp476fs) deletion Branchiootic syndrome 1 [RCV001568415] Chr8:71215664 [GRCh38]
Chr8:72127899 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.826+244C>G single nucleotide variant not provided [RCV001709470] Chr8:71298803 [GRCh38]
Chr8:72211038 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.884T>C (p.Leu295Ser) single nucleotide variant Inborn genetic diseases [RCV002548358]|Melnick-Fraser syndrome [RCV000971377]|not provided [RCV001557239] Chr8:71271840 [GRCh38]
Chr8:72184075 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.1650G>A (p.Val550=) single nucleotide variant not provided [RCV000904836] Chr8:71211204 [GRCh38]
Chr8:72123439 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1597+8G>A single nucleotide variant not provided [RCV000966696] Chr8:71215379 [GRCh38]
Chr8:72127614 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1598-2A>G single nucleotide variant Melnick-Fraser syndrome [RCV001039015] Chr8:71211258 [GRCh38]
Chr8:72123493 [GRCh37]
Chr8:8q13.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71816154-72197709)x1 copy number loss not provided [RCV001006113] Chr8:71816154..72197709 [GRCh37]
Chr8:8q13.3
likely pathogenic
NC_000008.11:g.(?_71269720)_(71269843_?)del deletion Branchiootorenal syndrome 1 [RCV001031746]|Melnick-Fraser syndrome [RCV001387704] Chr8:72181955..72182078 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.470C>A (p.Ser157Ter) single nucleotide variant Melnick-Fraser syndrome [RCV001047595] Chr8:71317638 [GRCh38]
Chr8:72229873 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV003336276]|Inborn genetic diseases [RCV002552091]|Melnick-Fraser syndrome [RCV001035542]|not provided [RCV001569637] Chr8:71271844 [GRCh38]
Chr8:72184079 [GRCh37]
Chr8:8q13.3
pathogenic
NC_000008.11:g.(?_71269720)_(71271917_?)del deletion Branchiootorenal syndrome 1 [RCV001033255]|Melnick-Fraser syndrome [RCV001387706] Chr8:72181955..72184152 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) single nucleotide variant not provided [RCV000971764]|not specified [RCV000825340] Chr8:71299226 [GRCh38]
Chr8:72211461 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.321T>C (p.Ala107=) single nucleotide variant Branchiootic syndrome 1 [RCV002487900]|Melnick-Fraser syndrome [RCV000864836]|not provided [RCV001570619]|not specified [RCV003151163] Chr8:71321831 [GRCh38]
Chr8:72234066 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.399G>A (p.Pro133=) single nucleotide variant Branchiootic syndrome 1 [RCV002502937]|Melnick-Fraser syndrome [RCV002066306] Chr8:71321753 [GRCh38]
Chr8:72233988 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.988G>T (p.Asp330Tyr) single nucleotide variant Branchiootorenal syndrome 1 [RCV001029834] Chr8:71269802 [GRCh38]
Chr8:72182037 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs) deletion Melnick-Fraser syndrome [RCV000813567] Chr8:71215668..71215671 [GRCh38]
Chr8:72127903..72127906 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1026G>A (p.Gly342=) single nucleotide variant not provided [RCV000842022] Chr8:71269764 [GRCh38]
Chr8:72181999 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.470C>T (p.Ser157Leu) single nucleotide variant not specified [RCV000825341] Chr8:71317638 [GRCh38]
Chr8:72229873 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1195dup (p.Leu399fs) duplication Rare genetic deafness [RCV000825582] Chr8:71216968..71216969 [GRCh38]
Chr8:72129203..72129204 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) single nucleotide variant Melnick-Fraser syndrome [RCV001869269]|not provided [RCV002293491]|not specified [RCV000825756] Chr8:71322205 [GRCh38]
Chr8:72234440 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.35G>A (p.Arg12His) single nucleotide variant Melnick-Fraser syndrome [RCV002067414]|Otofaciocervical syndrome 1 [RCV001198098]|not specified [RCV000825672] Chr8:71354871 [GRCh38]
Chr8:72267106 [GRCh37]
Chr8:8q13.3
benign|uncertain significance
NM_000503.6(EYA1):c.125-31C>T single nucleotide variant not provided [RCV000843506] Chr8:71334205 [GRCh38]
Chr8:72246440 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.121G>A (p.Glu41Lys) single nucleotide variant Melnick-Fraser syndrome [RCV001869270]|not specified [RCV000825757] Chr8:71354785 [GRCh38]
Chr8:72267020 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) single nucleotide variant Melnick-Fraser syndrome [RCV000798562] Chr8:71199380 [GRCh38]
Chr8:72111615 [GRCh37]
Chr8:8q13.3
likely pathogenic|uncertain significance
NM_000503.6(EYA1):c.557-54C>T single nucleotide variant not provided [RCV000843113] Chr8:71299774 [GRCh38]
Chr8:72212009 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.*1561A>G single nucleotide variant Branchiootic syndrome 1 [RCV001163959]|Otofaciocervical syndrome 1 [RCV001159033] Chr8:71197779 [GRCh38]
Chr8:72110014 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1505C>G (p.Thr502Ser) single nucleotide variant not provided [RCV000895398] Chr8:71215479 [GRCh38]
Chr8:72127714 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs) deletion Melnick-Fraser syndrome [RCV002235903] Chr8:71216697..71216698 [GRCh38]
Chr8:72128932..72128933 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.*866C>T single nucleotide variant Branchiootic syndrome 1 [RCV001164042]|Otofaciocervical syndrome 1 [RCV001164043] Chr8:71198474 [GRCh38]
Chr8:72110709 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.724A>G (p.Ser242Gly) single nucleotide variant Branchiootic syndrome 1 [RCV001164341]|Otofaciocervical syndrome 1 [RCV001164342] Chr8:71299149 [GRCh38]
Chr8:72211384 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_000503.6(EYA1):c.-340G>C single nucleotide variant Branchiootic syndrome 1 [RCV001162521]|Otofaciocervical syndrome 1 [RCV001162520] Chr8:71361932 [GRCh38]
Chr8:72274167 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.415T>C (p.Tyr139His) single nucleotide variant Branchiootic syndrome 1 [RCV000850159] Chr8:71321737 [GRCh38]
Chr8:72233972 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*1126T>C single nucleotide variant Branchiootic syndrome 1 [RCV001162031]|Otofaciocervical syndrome 1 [RCV001164041] Chr8:71198214 [GRCh38]
Chr8:72110449 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1464C>T (p.Leu488=) single nucleotide variant not specified [RCV001195191] Chr8:71215625 [GRCh38]
Chr8:72127860 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys) single nucleotide variant Branchiootic syndrome 1 [RCV002491592]|not specified [RCV001195415] Chr8:71271894 [GRCh38]
Chr8:72184129 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter) single nucleotide variant Melnick-Fraser syndrome [RCV001230973]|not provided [RCV003328661] Chr8:71215656 [GRCh38]
Chr8:72127891 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter) single nucleotide variant Melnick-Fraser syndrome [RCV001059296] Chr8:71216978 [GRCh38]
Chr8:72129213 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1635del (p.Phe545fs) deletion Melnick-Fraser syndrome [RCV001216108] Chr8:71211219 [GRCh38]
Chr8:72123454 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1361-1G>A single nucleotide variant Branchiootic syndrome 1 [RCV000995541]|Melnick-Fraser syndrome [RCV001858815] Chr8:71215729 [GRCh38]
Chr8:72127964 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.6(EYA1):c.1140+1G>T single nucleotide variant Melnick-Fraser syndrome [RCV001224614] Chr8:71244602 [GRCh38]
Chr8:72156837 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.466C>T (p.Gln156Ter) single nucleotide variant Melnick-Fraser syndrome [RCV001230509] Chr8:71317642 [GRCh38]
Chr8:72229877 [GRCh37]
Chr8:8q13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000503.6(EYA1):c.1670G>T (p.Gly557Val) single nucleotide variant Inborn genetic diseases [RCV003275294] Chr8:71211184 [GRCh38]
Chr8:72123419 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV000995542] Chr8:71299195 [GRCh38]
Chr8:72211430 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.*1529C>T single nucleotide variant Branchiootic syndrome 1 [RCV001159036]|Otofaciocervical syndrome 1 [RCV001159037] Chr8:71197811 [GRCh38]
Chr8:72110046 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.-188C>T single nucleotide variant Branchiootic syndrome 1 [RCV001159527]|Otofaciocervical syndrome 1 [RCV001159526] Chr8:71361780 [GRCh38]
Chr8:72274015 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*1284C>A single nucleotide variant Branchiootic syndrome 1 [RCV001160377]|Otofaciocervical syndrome 1 [RCV001160376] Chr8:71198056 [GRCh38]
Chr8:72110291 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.887G>A (p.Arg296His) single nucleotide variant Branchiootic syndrome 1 [RCV001160699]|Otofaciocervical syndrome 1 [RCV001160698]|not provided [RCV003425966] Chr8:71271837 [GRCh38]
Chr8:72184072 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.340T>C (p.Phe114Leu) single nucleotide variant Branchiootorenal syndrome 1 [RCV001212522] Chr8:71321812 [GRCh38]
Chr8:72234047 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV003123356] Chr8:71211243 [GRCh38]
Chr8:72123478 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1597+288del deletion not provided [RCV001550554] Chr8:71215099 [GRCh38]
Chr8:72127334 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1597+60G>A single nucleotide variant not provided [RCV001638890] Chr8:71215327 [GRCh38]
Chr8:72127562 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.-4-297T>C single nucleotide variant not provided [RCV001672169] Chr8:71355206 [GRCh38]
Chr8:72267441 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.639+17G>C single nucleotide variant Branchiootic syndrome 1 [RCV002495967]|not provided [RCV001609321] Chr8:71299621 [GRCh38]
Chr8:72211856 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.174C>T (p.Asp58=) single nucleotide variant Melnick-Fraser syndrome [RCV002568363]|not provided [RCV001556684] Chr8:71334125 [GRCh38]
Chr8:72246360 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.827-104A>G single nucleotide variant not provided [RCV001717773] Chr8:71272001 [GRCh38]
Chr8:72184236 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.826+104C>T single nucleotide variant not provided [RCV001718367] Chr8:71298943 [GRCh38]
Chr8:72211178 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1698+344C>T single nucleotide variant not provided [RCV001670661] Chr8:71210812 [GRCh38]
Chr8:72123047 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.557-28A>G single nucleotide variant not provided [RCV001587673] Chr8:71299748 [GRCh38]
Chr8:72211983 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.125-258A>G single nucleotide variant not provided [RCV001616542] Chr8:71334432 [GRCh38]
Chr8:72246667 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.*9G>A single nucleotide variant not provided [RCV001621794] Chr8:71199331 [GRCh38]
Chr8:72111566 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.125-169T>C single nucleotide variant not provided [RCV001609889] Chr8:71334343 [GRCh38]
Chr8:72246578 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.112A>G (p.Asn38Asp) single nucleotide variant Melnick-Fraser syndrome [RCV002032571]|not provided [RCV001547552] Chr8:71354794 [GRCh38]
Chr8:72267029 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.1360+286_1360+303dup duplication not provided [RCV001618955] Chr8:71216388..71216389 [GRCh38]
Chr8:72128623..72128624 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1455A>C (p.Ala485=) single nucleotide variant Branchiootorenal syndrome 1 [RCV000978148] Chr8:71215634 [GRCh38]
Chr8:72127869 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.557-7del deletion not provided [RCV000931601] Chr8:71299727 [GRCh38]
Chr8:72211962 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1032C>T (p.Tyr344=) single nucleotide variant Melnick-Fraser syndrome [RCV001410406] Chr8:71269758 [GRCh38]
Chr8:72181993 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1116A>G (p.Thr372=) single nucleotide variant not provided [RCV000952669] Chr8:71244627 [GRCh38]
Chr8:72156862 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.*70G>A single nucleotide variant Branchiootic syndrome 1 [RCV001164144]|Otofaciocervical syndrome 1 [RCV001164145] Chr8:71199270 [GRCh38]
Chr8:72111505 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*556A>G single nucleotide variant Branchiootic syndrome 1 [RCV001159139]|Otofaciocervical syndrome 1 [RCV001159138] Chr8:71198784 [GRCh38]
Chr8:72111019 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.*429T>C single nucleotide variant Branchiootic syndrome 1 [RCV001160491]|Otofaciocervical syndrome 1 [RCV001160490]|not provided [RCV003311950] Chr8:71198911 [GRCh38]
Chr8:72111146 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.230G>A (p.Arg77Gln) single nucleotide variant Branchiootic syndrome 1 [RCV001160798]|Melnick-Fraser syndrome [RCV002032489]|Otofaciocervical syndrome 1 [RCV001160799] Chr8:71322241 [GRCh38]
Chr8:72234476 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) single nucleotide variant Branchiootic syndrome 1 [RCV002479185]|Melnick-Fraser syndrome [RCV001858894]|not provided [RCV000999043] Chr8:71354857 [GRCh38]
Chr8:72267092 [GRCh37]
Chr8:8q13.3
benign|uncertain significance
NM_000503.6(EYA1):c.175G>A (p.Gly59Arg) single nucleotide variant not provided [RCV001558781] Chr8:71334124 [GRCh38]
Chr8:72246359 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.197G>T (p.Gly66Val) single nucleotide variant not provided [RCV002469740] Chr8:71334102 [GRCh38]
Chr8:72246337 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.826+214C>G single nucleotide variant not provided [RCV001553005] Chr8:71298833 [GRCh38]
Chr8:72211068 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1145G>A (p.Cys382Tyr) single nucleotide variant not provided [RCV003233128] Chr8:71217019 [GRCh38]
Chr8:72129254 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1140+1G>A single nucleotide variant Branchiootic syndrome 1 [RCV001568418] Chr8:71244602 [GRCh38]
Chr8:72156837 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.-54-314A>G single nucleotide variant not provided [RCV001566109] Chr8:71356825 [GRCh38]
Chr8:72269060 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.299C>T (p.Thr100Ile) single nucleotide variant not provided [RCV002467291] Chr8:71321853 [GRCh38]
Chr8:72234088 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) insertion Branchiootorenal syndrome 1 [RCV001029972] Chr8:71299123..71299124 [GRCh38]
Chr8:72211358..72211359 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1361-267C>T single nucleotide variant not provided [RCV001592021] Chr8:71215995 [GRCh38]
Chr8:72128230 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1699-55G>A single nucleotide variant not provided [RCV001654541] Chr8:71199475 [GRCh38]
Chr8:72111710 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1050+66T>G single nucleotide variant not provided [RCV001675534] Chr8:71269674 [GRCh38]
Chr8:72181909 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1050+28A>C single nucleotide variant not provided [RCV001538636] Chr8:71269712 [GRCh38]
Chr8:72181947 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.966+5G>C single nucleotide variant Melnick-Fraser syndrome [RCV001865995]|not provided [RCV001564912] Chr8:71271753 [GRCh38]
Chr8:72183988 [GRCh37]
Chr8:8q13.3
likely pathogenic|uncertain significance
NM_000503.6(EYA1):c.966+233_966+236del microsatellite not provided [RCV001652200] Chr8:71271522..71271525 [GRCh38]
Chr8:72183757..72183760 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.418+102C>T single nucleotide variant not provided [RCV001597651] Chr8:71321632 [GRCh38]
Chr8:72233867 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1360+53C>T single nucleotide variant not provided [RCV001658667] Chr8:71216639 [GRCh38]
Chr8:72128874 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1050+107A>G single nucleotide variant not provided [RCV001717778] Chr8:71269633 [GRCh38]
Chr8:72181868 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1598-326C>G single nucleotide variant not provided [RCV001678432] Chr8:71211582 [GRCh38]
Chr8:72123817 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.418+34C>T single nucleotide variant not provided [RCV001590314] Chr8:71321700 [GRCh38]
Chr8:72233935 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.678C>T (p.Tyr226=) single nucleotide variant not provided [RCV001565276] Chr8:71299195 [GRCh38]
Chr8:72211430 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.419-273A>G single nucleotide variant not provided [RCV001650435] Chr8:71317962 [GRCh38]
Chr8:72230197 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1597+114del deletion not provided [RCV001592189] Chr8:71215273 [GRCh38]
Chr8:72127508 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.557-226T>C single nucleotide variant not provided [RCV001657175] Chr8:71299946 [GRCh38]
Chr8:72212181 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.*451C>T single nucleotide variant Branchiootic syndrome 1 [RCV001160489]|Otofaciocervical syndrome 1 [RCV001160488] Chr8:71198889 [GRCh38]
Chr8:72111124 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1509T>C (p.Thr503=) single nucleotide variant Branchiootic syndrome 1 [RCV001160588]|Otofaciocervical syndrome 1 [RCV001160589] Chr8:71215475 [GRCh38]
Chr8:72127710 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*102T>G single nucleotide variant Branchiootic syndrome 1 [RCV001162125]|Otofaciocervical syndrome 1 [RCV001162124]|not provided [RCV001558420] Chr8:71199238 [GRCh38]
Chr8:72111473 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.*1543T>G single nucleotide variant Branchiootic syndrome 1 [RCV001159035]|Otofaciocervical syndrome 1 [RCV001159034] Chr8:71197797 [GRCh38]
Chr8:72110032 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1698+14G>A single nucleotide variant Branchiootic syndrome 1 [RCV001159236]|Otofaciocervical syndrome 1 [RCV001160585] Chr8:71211142 [GRCh38]
Chr8:72123377 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*1391G>A single nucleotide variant Branchiootic syndrome 1 [RCV001159039]|Otofaciocervical syndrome 1 [RCV001159038] Chr8:71197949 [GRCh38]
Chr8:72110184 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1050+1G>T single nucleotide variant Branchiootic syndrome 1 [RCV001568417]|Melnick-Fraser syndrome [RCV001059303] Chr8:71269739 [GRCh38]
Chr8:72181974 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1475+15G>T single nucleotide variant Branchiootic syndrome 1 [RCV001160590]|Melnick-Fraser syndrome [RCV002558522]|Otofaciocervical syndrome 1 [RCV001160591] Chr8:71215599 [GRCh38]
Chr8:72127834 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.124+225A>G single nucleotide variant not provided [RCV001567555] Chr8:71354557 [GRCh38]
Chr8:72266792 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.557-206G>C single nucleotide variant not provided [RCV001588463] Chr8:71299926 [GRCh38]
Chr8:72212161 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.806del (p.Ala269fs) deletion Melnick-Fraser syndrome [RCV001061934] Chr8:71299067 [GRCh38]
Chr8:72211302 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1698+133A>G single nucleotide variant not provided [RCV001646022] Chr8:71211023 [GRCh38]
Chr8:72123258 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1597+18T>C single nucleotide variant Branchiootic syndrome 1 [RCV002496031]|Melnick-Fraser syndrome [RCV002077153]|not provided [RCV001713683]|not specified [RCV001700601] Chr8:71215369 [GRCh38]
Chr8:72127604 [GRCh37]
Chr8:8q13.3
benign|likely benign
NM_000503.6(EYA1):c.124+198A>C single nucleotide variant not provided [RCV001583267] Chr8:71354584 [GRCh38]
Chr8:72266819 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.272+99A>T single nucleotide variant not provided [RCV001693730] Chr8:71322100 [GRCh38]
Chr8:72234335 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.*104C>T single nucleotide variant Branchiootic syndrome 1 [RCV001162123]|Otofaciocervical syndrome 1 [RCV001162122] Chr8:71199236 [GRCh38]
Chr8:72111471 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.966+250A>G single nucleotide variant not provided [RCV001536882] Chr8:71271508 [GRCh38]
Chr8:72183743 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1597+59C>T single nucleotide variant not provided [RCV001613601] Chr8:71215328 [GRCh38]
Chr8:72127563 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.827-8T>A single nucleotide variant Branchiootic syndrome 1 [RCV001162311]|Branchiootic syndrome 1 [RCV002491469]|Otofaciocervical syndrome 1 [RCV001160701] Chr8:71271905 [GRCh38]
Chr8:72184140 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1476-21G>T single nucleotide variant Branchiootic syndrome 1 [RCV001702948]|Branchiootorenal syndrome 1 [RCV001703039]|Otofaciocervical syndrome 1 [RCV001702222]|not provided [RCV001650737] Chr8:71215529 [GRCh38]
Chr8:72127764 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.9G>A (p.Met3Ile) single nucleotide variant Otofaciocervical syndrome 1 [RCV001196411] Chr8:71354897 [GRCh38]
Chr8:72267132 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.203C>G (p.Ala68Gly) single nucleotide variant Otofaciocervical syndrome 1 [RCV001196644] Chr8:71322268 [GRCh38]
Chr8:72234503 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) single nucleotide variant Branchiootic syndrome 1 [RCV001162205]|Branchiootic syndrome 1 [RCV002483913]|Melnick-Fraser syndrome [RCV002032497]|Otofaciocervical syndrome 1 [RCV001162206] Chr8:71216739 [GRCh38]
Chr8:72128974 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1537C>A (p.Leu513Met) single nucleotide variant not provided [RCV001200306] Chr8:71215447 [GRCh38]
Chr8:72127682 [GRCh37]
Chr8:8q13.3
likely pathogenic
NC_000008.11:g.(?_71244583)_(71244712_?)del deletion Branchiootorenal syndrome 1 [RCV001031962]|Melnick-Fraser syndrome [RCV001387705] Chr8:72156818..72156947 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1140+5G>A single nucleotide variant Melnick-Fraser syndrome [RCV001036961] Chr8:71244598 [GRCh38]
Chr8:72156833 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser) single nucleotide variant Branchiootic syndrome 1 [RCV002491591]|not specified [RCV001195374] Chr8:71299181 [GRCh38]
Chr8:72211416 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*755A>T single nucleotide variant Branchiootic syndrome 1 [RCV001159136]|Otofaciocervical syndrome 1 [RCV001159137] Chr8:71198585 [GRCh38]
Chr8:72110820 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1701C>A (p.His567Gln) single nucleotide variant Branchiootic syndrome 1 [RCV001159235]|Otofaciocervical syndrome 1 [RCV001159234] Chr8:71199418 [GRCh38]
Chr8:72111653 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.378G>A (p.Thr126=) single nucleotide variant Branchiootic syndrome 1 [RCV001160797]|Otofaciocervical syndrome 1 [RCV001159422] Chr8:71321774 [GRCh38]
Chr8:72234009 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.*1297A>G single nucleotide variant Branchiootic syndrome 1 [RCV001160374]|Otofaciocervical syndrome 1 [RCV001160375] Chr8:71198043 [GRCh38]
Chr8:72110278 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV001003414]|Melnick-Fraser syndrome [RCV002549211] Chr8:71215629 [GRCh38]
Chr8:72127864 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.6(EYA1):c.*1229G>A single nucleotide variant Branchiootic syndrome 1 [RCV001162029]|Otofaciocervical syndrome 1 [RCV001162030] Chr8:71198111 [GRCh38]
Chr8:72110346 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1259del (p.Leu420fs) deletion Branchiootorenal syndrome 1 [RCV001251477] Chr8:71216793 [GRCh38]
Chr8:72129028 [GRCh37]
Chr8:8q13.3
pathogenic|uncertain significance
NM_000503.6(EYA1):c.1496_1499del (p.Ile498_Leu499insTer) deletion Bilateral renal agenesis [RCV001807680] Chr8:71215485..71215488 [GRCh38]
Chr8:72127720..72127723 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1699-84C>G single nucleotide variant not provided [RCV001527840] Chr8:71199504 [GRCh38]
Chr8:72111739 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1474C>T (p.Arg492Trp) single nucleotide variant Melnick-Fraser syndrome [RCV001302509] Chr8:71215615 [GRCh38]
Chr8:72127850 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.5(EYA1):c.557del deletion Melnick-Fraser syndrome [RCV001328201] Chr8:71299720 [GRCh38]
Chr8:72211955 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.640-4G>C single nucleotide variant not provided [RCV001312178] Chr8:71299237 [GRCh38]
Chr8:72211472 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.398C>T (p.Pro133Leu) single nucleotide variant Hearing impairment [RCV001375407] Chr8:71321754 [GRCh38]
Chr8:72233989 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.929del (p.Asn310fs) deletion Branchiootorenal syndrome 1 [RCV001281295] Chr8:71271795 [GRCh38]
Chr8:72184030 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1476-2A>T single nucleotide variant Melnick-Fraser syndrome [RCV001385240] Chr8:71215510 [GRCh38]
Chr8:72127745 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter) single nucleotide variant Branchiootic syndrome 1 [RCV002290700]|Melnick-Fraser syndrome [RCV001381440] Chr8:71299640 [GRCh38]
Chr8:72211875 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic
NM_000503.6(EYA1):c.1698+1G>T single nucleotide variant Melnick-Fraser syndrome [RCV001380783] Chr8:71211155 [GRCh38]
Chr8:72123390 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.639+39T>G single nucleotide variant Branchiootic syndrome 1 [RCV001703022]|Branchiootorenal syndrome 1 [RCV001703021]|Otofaciocervical syndrome 1 [RCV001703134]|not provided [RCV001612081] Chr8:71299599 [GRCh38]
Chr8:72211834 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1051-323C>G single nucleotide variant not provided [RCV001693072] Chr8:71245015 [GRCh38]
Chr8:72157250 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1644del (p.Val549fs) deletion Melnick-Fraser syndrome [RCV001380784] Chr8:71211210 [GRCh38]
Chr8:72123445 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala) single nucleotide variant not provided [RCV001756301] Chr8:71334136 [GRCh38]
Chr8:72246371 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000503.6(EYA1):c.1046G>T (p.Gly349Val) single nucleotide variant not provided [RCV001758674] Chr8:71269744 [GRCh38]
Chr8:72181979 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1051-5T>G single nucleotide variant Branchiootorenal syndrome 1 [RCV001733513]|not provided [RCV002508808] Chr8:71244697 [GRCh38]
Chr8:72156932 [GRCh37]
Chr8:8q13.3
likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000503.6(EYA1):c.1468C>G (p.His490Asp) single nucleotide variant Melnick-Fraser syndrome [RCV002540548]|not provided [RCV001771483] Chr8:71215621 [GRCh38]
Chr8:72127856 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1454C>T (p.Ala485Val) single nucleotide variant Melnick-Fraser syndrome [RCV001868546]|not provided [RCV001752832] Chr8:71215635 [GRCh38]
Chr8:72127870 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1157A>T (p.His386Leu) single nucleotide variant not provided [RCV001772535] Chr8:71217007 [GRCh38]
Chr8:72129242 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.300C>T (p.Thr100=) single nucleotide variant not provided [RCV001768507] Chr8:71321852 [GRCh38]
Chr8:72234087 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.579A>G (p.Ser193=) single nucleotide variant not provided [RCV001774733] Chr8:71299698 [GRCh38]
Chr8:72211933 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1224C>T (p.Gly408=) single nucleotide variant not provided [RCV001754271] Chr8:71216828 [GRCh38]
Chr8:72129063 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.287A>G (p.His96Arg) single nucleotide variant not provided [RCV001764958] Chr8:71321865 [GRCh38]
Chr8:72234100 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.419-10A>G single nucleotide variant not provided [RCV001760996] Chr8:71317699 [GRCh38]
Chr8:72229934 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1621A>G (p.Ile541Val) single nucleotide variant not provided [RCV001800041] Chr8:71211233 [GRCh38]
Chr8:72123468 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.524C>T (p.Pro175Leu) single nucleotide variant not provided [RCV001768785] Chr8:71317584 [GRCh38]
Chr8:72229819 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1659T>C (p.Val553=) single nucleotide variant not provided [RCV001779659] Chr8:71211195 [GRCh38]
Chr8:72123430 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs) duplication not provided [RCV001806885] Chr8:71299186..71299187 [GRCh38]
Chr8:72211421..72211422 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys) single nucleotide variant Branchiootic syndrome 1 [RCV002479552]|Melnick-Fraser syndrome [RCV001987663] Chr8:71271814 [GRCh38]
Chr8:72184049 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln) single nucleotide variant Branchiootorenal syndrome 1 [RCV001825249]|Melnick-Fraser syndrome [RCV002034685]|not provided [RCV001837553] Chr8:71215614 [GRCh38]
Chr8:72127849 [GRCh37]
Chr8:8q13.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000503.6(EYA1):c.56C>G (p.Ser19Cys) single nucleotide variant Melnick-Fraser syndrome [RCV001910373] Chr8:71354850 [GRCh38]
Chr8:72267085 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.273-3T>C single nucleotide variant Branchiootic syndrome 1 [RCV002482700]|Melnick-Fraser syndrome [RCV001889235] Chr8:71321882 [GRCh38]
Chr8:72234117 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1 copy number loss not provided [RCV001827961] Chr8:69894553..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
NM_000503.6(EYA1):c.1273C>T (p.Arg425Trp) single nucleotide variant Melnick-Fraser syndrome [RCV002023688] Chr8:71216779 [GRCh38]
Chr8:72129014 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.782del (p.Pro261fs) deletion Melnick-Fraser syndrome [RCV001964954] Chr8:71299091 [GRCh38]
Chr8:72211326 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.639+2T>G single nucleotide variant Branchiootic syndrome 1 [RCV002051750] Chr8:71299636 [GRCh38]
Chr8:72211871 [GRCh37]
Chr8:8q13.3
pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
NM_000503.6(EYA1):c.1051-2A>G single nucleotide variant Melnick-Fraser syndrome [RCV001947082] Chr8:71244694 [GRCh38]
Chr8:72156929 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.718A>G (p.Met240Val) single nucleotide variant Melnick-Fraser syndrome [RCV001968079] Chr8:71299155 [GRCh38]
Chr8:72211390 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1272dup (p.Arg425fs) duplication Melnick-Fraser syndrome [RCV001945743] Chr8:71216779..71216780 [GRCh38]
Chr8:72129014..72129015 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1387G>A (p.Ala463Thr) single nucleotide variant Melnick-Fraser syndrome [RCV002042016] Chr8:71215702 [GRCh38]
Chr8:72127937 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.34C>T (p.Arg12Cys) single nucleotide variant Melnick-Fraser syndrome [RCV001914199]|not provided [RCV002469431] Chr8:71354872 [GRCh38]
Chr8:72267107 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645) copy number loss not specified [RCV002053771] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
NM_000503.6(EYA1):c.966+1G>C single nucleotide variant Branchiooculofacial syndrome [RCV001849643] Chr8:71271757 [GRCh38]
Chr8:72183992 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1182dup (p.Asn395Ter) duplication Melnick-Fraser syndrome [RCV001962923] Chr8:71216981..71216982 [GRCh38]
Chr8:72129216..72129217 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.289A>G (p.Ile97Val) single nucleotide variant Branchiootic syndrome 1 [RCV002478314]|Melnick-Fraser syndrome [RCV001932776] Chr8:71321863 [GRCh38]
Chr8:72234098 [GRCh37]
Chr8:8q13.3
uncertain significance
NC_000008.10:g.(?_72111575)_(72267140_?)del deletion Melnick-Fraser syndrome [RCV001999837] Chr8:72111575..72267140 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.248C>G (p.Ser83Cys) single nucleotide variant Melnick-Fraser syndrome [RCV001887425] Chr8:71322223 [GRCh38]
Chr8:72234458 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.355C>T (p.Gln119Ter) single nucleotide variant Melnick-Fraser syndrome [RCV001960114] Chr8:71321797 [GRCh38]
Chr8:72234032 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs) microsatellite Branchiootic syndrome 1 [RCV002497892]|Melnick-Fraser syndrome [RCV001963158] Chr8:71215496..71215497 [GRCh38]
Chr8:72127731..72127732 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.639+14C>T single nucleotide variant Melnick-Fraser syndrome [RCV002017788] Chr8:71299624 [GRCh38]
Chr8:72211859 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1270G>A (p.Val424Ile) single nucleotide variant Melnick-Fraser syndrome [RCV001991409] Chr8:71216782 [GRCh38]
Chr8:72129017 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1199+2T>A single nucleotide variant Melnick-Fraser syndrome [RCV002015784] Chr8:71216963 [GRCh38]
Chr8:72129198 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1619_1620del (p.Arg540fs) microsatellite Melnick-Fraser syndrome [RCV001881858] Chr8:71211234..71211235 [GRCh38]
Chr8:72123469..72123470 [GRCh37]
Chr8:8q13.3
pathogenic
NC_000008.10:g.(?_72123371)_(72123511_?)del deletion Melnick-Fraser syndrome [RCV001953832] Chr8:72123371..72123511 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.490dup (p.Leu164fs) duplication Melnick-Fraser syndrome [RCV001994827] Chr8:71317617..71317618 [GRCh38]
Chr8:72229852..72229853 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1325_1326del (p.Lys442fs) deletion Melnick-Fraser syndrome [RCV001972766] Chr8:71216726..71216727 [GRCh38]
Chr8:72128961..72128962 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter) single nucleotide variant Melnick-Fraser syndrome [RCV001980140] Chr8:71299098 [GRCh38]
Chr8:72211333 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1717A>G (p.Arg573Gly) single nucleotide variant Melnick-Fraser syndrome [RCV001959343] Chr8:71199402 [GRCh38]
Chr8:72111637 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1051-12T>G single nucleotide variant Melnick-Fraser syndrome [RCV001906694] Chr8:71244704 [GRCh38]
Chr8:72156939 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1236dup (p.Ala413fs) duplication Melnick-Fraser syndrome [RCV001956351] Chr8:71216815..71216816 [GRCh38]
Chr8:72129050..72129051 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1198A>G (p.Ser400Gly) single nucleotide variant Melnick-Fraser syndrome [RCV001915651] Chr8:71216966 [GRCh38]
Chr8:72129201 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.654T>G (p.Tyr218Ter) single nucleotide variant Melnick-Fraser syndrome [RCV001951414] Chr8:71299219 [GRCh38]
Chr8:72211454 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1361-2A>G single nucleotide variant Melnick-Fraser syndrome [RCV002013780] Chr8:71215730 [GRCh38]
Chr8:72127965 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1315del (p.Arg439fs) deletion Melnick-Fraser syndrome [RCV001878771] Chr8:71216737 [GRCh38]
Chr8:72128972 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1325A>G (p.Lys442Arg) single nucleotide variant Branchiootorenal syndrome 1 [RCV002071021] Chr8:71216727 [GRCh38]
Chr8:72128962 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.203-16T>G single nucleotide variant Melnick-Fraser syndrome [RCV002089609] Chr8:71322284 [GRCh38]
Chr8:72234519 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1199+8C>T single nucleotide variant Melnick-Fraser syndrome [RCV002209993] Chr8:71216957 [GRCh38]
Chr8:72129192 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.640-15G>A single nucleotide variant not provided [RCV002226054] Chr8:71299248 [GRCh38]
Chr8:72211483 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.317T>C (p.Met106Thr) single nucleotide variant not provided [RCV002214475] Chr8:71321835 [GRCh38]
Chr8:72234070 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.27G>A (p.Pro9=) single nucleotide variant Melnick-Fraser syndrome [RCV002121104] Chr8:71354879 [GRCh38]
Chr8:72267114 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.165G>A (p.Thr55=) single nucleotide variant Branchiootic syndrome 1 [RCV002498127]|Melnick-Fraser syndrome [RCV002177053] Chr8:71334134 [GRCh38]
Chr8:72246369 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1650_1651dup (p.Tyr551fs) microsatellite Branchiootic syndrome 1 [RCV002254379] Chr8:71211202..71211203 [GRCh38]
Chr8:72123437..72123438 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1383G>A (p.Arg461=) single nucleotide variant Melnick-Fraser syndrome [RCV002101751] Chr8:71215706 [GRCh38]
Chr8:72127941 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1140+11A>T single nucleotide variant Branchiootic syndrome 1 [RCV002499957]|Melnick-Fraser syndrome [RCV002103610] Chr8:71244592 [GRCh38]
Chr8:72156827 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1530G>A (p.Ala510=) single nucleotide variant Branchiootic syndrome 1 [RCV002494001]|Melnick-Fraser syndrome [RCV002099439] Chr8:71215454 [GRCh38]
Chr8:72127689 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.202+9T>C single nucleotide variant Melnick-Fraser syndrome [RCV002203469] Chr8:71334088 [GRCh38]
Chr8:72246323 [GRCh37]
Chr8:8q13.3
likely benign
NC_000008.10:g.(?_72111575)_(72246429_?)del deletion Melnick-Fraser syndrome [RCV003111322] Chr8:72111575..72246429 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.981G>A (p.Trp327Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV003148472] Chr8:71269809 [GRCh38]
Chr8:72182044 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.971T>C (p.Val324Ala) single nucleotide variant not provided [RCV003149301] Chr8:71269819 [GRCh38]
Chr8:72182054 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
NM_000503.6(EYA1):c.701C>T (p.Pro234Leu) single nucleotide variant EYA1-related condition [RCV003395443]|not provided [RCV002273551] Chr8:71299172 [GRCh38]
Chr8:72211407 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.900T>C (p.Asp300=) single nucleotide variant not provided [RCV002267383] Chr8:71271824 [GRCh38]
Chr8:72184059 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.201A>G (p.Ser67=) single nucleotide variant not provided [RCV002267398] Chr8:71334098 [GRCh38]
Chr8:72246333 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1381_1387dup (p.Ala463fs) duplication not provided [RCV002276460] Chr8:71215701..71215702 [GRCh38]
Chr8:72127936..72127937 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1597+1G>C single nucleotide variant not provided [RCV002283292] Chr8:71215386 [GRCh38]
Chr8:72127621 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1051G>T (p.Asp351Tyr) single nucleotide variant not provided [RCV002273491] Chr8:71244692 [GRCh38]
Chr8:72156927 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg) single nucleotide variant Branchiootorenal syndrome 1 [RCV002272754] Chr8:71269811 [GRCh38]
Chr8:72182046 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1189C>T (p.Gln397Ter) single nucleotide variant not provided [RCV002269774] Chr8:71216975 [GRCh38]
Chr8:72129210 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter) single nucleotide variant Branchiootorenal syndrome 1 [RCV002288389] Chr8:71317588 [GRCh38]
Chr8:72229823 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.141G>A (p.Met47Ile) single nucleotide variant Inborn genetic diseases [RCV003304387] Chr8:71334158 [GRCh38]
Chr8:72246393 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.684G>A (p.Gln228=) single nucleotide variant not provided [RCV002474233] Chr8:71299189 [GRCh38]
Chr8:72211424 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1699-119_1699-116dup duplication not provided [RCV003154428] Chr8:71199535..71199536 [GRCh38]
Chr8:72111770..72111771 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1525T>A (p.Leu509Met) single nucleotide variant Melnick-Fraser syndrome [RCV002305342] Chr8:71215459 [GRCh38]
Chr8:72127694 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1321G>A (p.Val441Ile) single nucleotide variant Inborn genetic diseases [RCV002840941] Chr8:71216731 [GRCh38]
Chr8:72128966 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1598-32_1598-8del deletion not provided [RCV002461748] Chr8:71211264..71211288 [GRCh38]
Chr8:72123499..72123523 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.402C>G (p.Tyr134Ter) single nucleotide variant Melnick-Fraser syndrome [RCV002863615] Chr8:71321750 [GRCh38]
Chr8:72233985 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.218G>A (p.Ser73Asn) single nucleotide variant Melnick-Fraser syndrome [RCV002972008] Chr8:71322253 [GRCh38]
Chr8:72234488 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys) single nucleotide variant Melnick-Fraser syndrome [RCV002994210] Chr8:71216743 [GRCh38]
Chr8:72128978 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1051-18G>A single nucleotide variant Melnick-Fraser syndrome [RCV002615097] Chr8:71244710 [GRCh38]
Chr8:72156945 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.384A>G (p.Pro128=) single nucleotide variant Melnick-Fraser syndrome [RCV002995316] Chr8:71321768 [GRCh38]
Chr8:72234003 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1084del (p.Met362fs) deletion Melnick-Fraser syndrome [RCV002858361] Chr8:71244659 [GRCh38]
Chr8:72156894 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.706C>A (p.Pro236Thr) single nucleotide variant Inborn genetic diseases [RCV002907564] Chr8:71299167 [GRCh38]
Chr8:72211402 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.806C>A (p.Ala269Glu) single nucleotide variant Melnick-Fraser syndrome [RCV002904814] Chr8:71299067 [GRCh38]
Chr8:72211302 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.966+5G>T single nucleotide variant not provided [RCV002462473] Chr8:71271753 [GRCh38]
Chr8:72183988 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.585A>G (p.Ile195Met) single nucleotide variant Melnick-Fraser syndrome [RCV002923605] Chr8:71299692 [GRCh38]
Chr8:72211927 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1155C>A (p.Val385=) single nucleotide variant Melnick-Fraser syndrome [RCV002979783] Chr8:71217009 [GRCh38]
Chr8:72129244 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.147C>T (p.Ser49=) single nucleotide variant Melnick-Fraser syndrome [RCV002637977] Chr8:71334152 [GRCh38]
Chr8:72246387 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.202_203insTTAC (p.Ala68fs) insertion not provided [RCV003037037] Chr8:71334096..71334097 [GRCh38]
Chr8:72246331..72246332 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1545T>A (p.Tyr515Ter) single nucleotide variant Melnick-Fraser syndrome [RCV002847545] Chr8:71215439 [GRCh38]
Chr8:72127674 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.679G>A (p.Ala227Thr) single nucleotide variant Melnick-Fraser syndrome [RCV003037297] Chr8:71299194 [GRCh38]
Chr8:72211429 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.678C>G (p.Tyr226Ter) single nucleotide variant Melnick-Fraser syndrome [RCV003037298] Chr8:71299195 [GRCh38]
Chr8:72211430 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1570_1571insTA (p.Glu524fs) insertion Melnick-Fraser syndrome [RCV002847544] Chr8:71215413..71215414 [GRCh38]
Chr8:72127648..72127649 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.272+13_272+14insTA insertion Melnick-Fraser syndrome [RCV002867114] Chr8:71322185..71322186 [GRCh38]
Chr8:72234420..72234421 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1217C>G (p.Thr406Arg) single nucleotide variant Melnick-Fraser syndrome [RCV002705398] Chr8:71216835 [GRCh38]
Chr8:72129070 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.202+8A>T single nucleotide variant Melnick-Fraser syndrome [RCV002948767] Chr8:71334089 [GRCh38]
Chr8:72246324 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.826+1G>A single nucleotide variant Melnick-Fraser syndrome [RCV002795252] Chr8:71299046 [GRCh38]
Chr8:72211281 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.272+17del deletion Melnick-Fraser syndrome [RCV002867112] Chr8:71322182 [GRCh38]
Chr8:72234417 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1285G>C (p.Asp429His) single nucleotide variant Inborn genetic diseases [RCV002822961] Chr8:71216767 [GRCh38]
Chr8:72129002 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1597+1G>T single nucleotide variant Melnick-Fraser syndrome [RCV003019374] Chr8:71215386 [GRCh38]
Chr8:72127621 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.272+15C>A single nucleotide variant Melnick-Fraser syndrome [RCV002867113] Chr8:71322184 [GRCh38]
Chr8:72234419 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1323A>C (p.Val441=) single nucleotide variant Melnick-Fraser syndrome [RCV003053347] Chr8:71216729 [GRCh38]
Chr8:72128964 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1190A>G (p.Gln397Arg) single nucleotide variant Melnick-Fraser syndrome [RCV003037296] Chr8:71216974 [GRCh38]
Chr8:72129209 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.647C>T (p.Pro216Leu) single nucleotide variant Melnick-Fraser syndrome [RCV002890378] Chr8:71299226 [GRCh38]
Chr8:72211461 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1050+4A>G single nucleotide variant Melnick-Fraser syndrome [RCV002851401] Chr8:71269736 [GRCh38]
Chr8:72181971 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1223G>A (p.Gly408Asp) single nucleotide variant Melnick-Fraser syndrome [RCV002891173] Chr8:71216829 [GRCh38]
Chr8:72129064 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1475+10T>A single nucleotide variant Melnick-Fraser syndrome [RCV002890048] Chr8:71215604 [GRCh38]
Chr8:72127839 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1627C>T (p.Gln543Ter) single nucleotide variant Melnick-Fraser syndrome [RCV003058198] Chr8:71211227 [GRCh38]
Chr8:72123462 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro) single nucleotide variant Melnick-Fraser syndrome [RCV002872633] Chr8:71215641 [GRCh38]
Chr8:72127876 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.419-5T>C single nucleotide variant Melnick-Fraser syndrome [RCV002576031] Chr8:71317694 [GRCh38]
Chr8:72229929 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.617C>T (p.Ser206Phe) single nucleotide variant Inborn genetic diseases [RCV002853910] Chr8:71299660 [GRCh38]
Chr8:72211895 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1206T>C (p.Tyr402=) single nucleotide variant Melnick-Fraser syndrome [RCV002597661] Chr8:71216846 [GRCh38]
Chr8:72129081 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.418+15A>G single nucleotide variant Melnick-Fraser syndrome [RCV002576771] Chr8:71321719 [GRCh38]
Chr8:72233954 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.639+20T>C single nucleotide variant Melnick-Fraser syndrome [RCV002627458] Chr8:71299618 [GRCh38]
Chr8:72211853 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.113A>G (p.Asn38Ser) single nucleotide variant Melnick-Fraser syndrome [RCV002651196] Chr8:71354793 [GRCh38]
Chr8:72267028 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.272+9_272+10insTTTATT insertion Melnick-Fraser syndrome [RCV002898809] Chr8:71322189..71322190 [GRCh38]
Chr8:72234424..72234425 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.783G>T (p.Pro261=) single nucleotide variant Melnick-Fraser syndrome [RCV002716024] Chr8:71299090 [GRCh38]
Chr8:72211325 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.402C>T (p.Tyr134=) single nucleotide variant Melnick-Fraser syndrome [RCV003063233] Chr8:71321750 [GRCh38]
Chr8:72233985 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1248dup (p.Asn417Ter) duplication Melnick-Fraser syndrome [RCV002810306] Chr8:71216803..71216804 [GRCh38]
Chr8:72129038..72129039 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.950del (p.Pro317fs) deletion Melnick-Fraser syndrome [RCV003045977] Chr8:71271774 [GRCh38]
Chr8:72184009 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.704A>T (p.Tyr235Phe) single nucleotide variant Inborn genetic diseases [RCV002920849] Chr8:71299169 [GRCh38]
Chr8:72211404 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1598-19ATTT[3] microsatellite Melnick-Fraser syndrome [RCV003091021] Chr8:71211267..71211268 [GRCh38]
Chr8:72123502..72123503 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1264A>C (p.Thr422Pro) single nucleotide variant Melnick-Fraser syndrome [RCV002605595] Chr8:71216788 [GRCh38]
Chr8:72129023 [GRCh37]
Chr8:8q13.3
likely benign|uncertain significance
NM_000503.6(EYA1):c.515C>T (p.Thr172Ile) single nucleotide variant Melnick-Fraser syndrome [RCV002603813] Chr8:71317593 [GRCh38]
Chr8:72229828 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.702G>A (p.Pro234=) single nucleotide variant Melnick-Fraser syndrome [RCV003072228] Chr8:71299171 [GRCh38]
Chr8:72211406 [GRCh37]
Chr8:8q13.3
benign
NM_000503.6(EYA1):c.1598-1G>C single nucleotide variant Melnick-Fraser syndrome [RCV002943391] Chr8:71211257 [GRCh38]
Chr8:72123492 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.158C>T (p.Ala53Val) single nucleotide variant Melnick-Fraser syndrome [RCV002583111] Chr8:71334141 [GRCh38]
Chr8:72246376 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.255A>G (p.Pro85=) single nucleotide variant Melnick-Fraser syndrome [RCV002612235] Chr8:71322216 [GRCh38]
Chr8:72234451 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.689A>G (p.Tyr230Cys) single nucleotide variant Melnick-Fraser syndrome [RCV002721306] Chr8:71299184 [GRCh38]
Chr8:72211419 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1053T>G (p.Asp351Glu) single nucleotide variant not provided [RCV003229408] Chr8:71244690 [GRCh38]
Chr8:72156925 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1310G>A (p.Arg437His) single nucleotide variant not provided [RCV003223814] Chr8:71216742 [GRCh38]
Chr8:72128977 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1029del (p.Tyr344fs) deletion not provided [RCV003227436] Chr8:71269761 [GRCh38]
Chr8:72181996 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1698+2T>C single nucleotide variant Otofaciocervical syndrome 1 [RCV003219188] Chr8:71211154 [GRCh38]
Chr8:72123389 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.1570G>T (p.Glu524Ter) single nucleotide variant not provided [RCV003319914] Chr8:71215414 [GRCh38]
Chr8:72127649 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.296C>T (p.Pro99Leu) single nucleotide variant not provided [RCV003325079] Chr8:71321856 [GRCh38]
Chr8:72234091 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.845_852del (p.Ser282fs) deletion not provided [RCV003319836] Chr8:71271872..71271879 [GRCh38]
Chr8:72184107..72184114 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1408G>T (p.Glu470Ter) single nucleotide variant Branchiootic syndrome 1 [RCV003330135] Chr8:71215681 [GRCh38]
Chr8:72127916 [GRCh37]
Chr8:8q13.3
pathogenic
NM_001370334.1(EYA1):c.-135A>C single nucleotide variant not provided [RCV003423939] Chr8:71535750 [GRCh38]
Chr8:72447985 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.717T>G (p.Tyr239Ter) single nucleotide variant EYA1-related condition [RCV003394414] Chr8:71299156 [GRCh38]
Chr8:72211391 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.639+3A>C single nucleotide variant Branchiootic syndrome 1 [RCV003449006] Chr8:71299635 [GRCh38]
Chr8:72211870 [GRCh37]
Chr8:8q13.3
likely pathogenic
NM_000503.6(EYA1):c.76G>A (p.Gly26Ser) single nucleotide variant Branchiootorenal syndrome 1 [RCV003455880] Chr8:71354830 [GRCh38]
Chr8:72267065 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1598-2del deletion Branchiootic syndrome 1 [RCV003447693] Chr8:71211258 [GRCh38]
Chr8:72123493 [GRCh37]
Chr8:8q13.3
pathogenic
NM_000503.6(EYA1):c.1771T>A (p.Tyr591Asn) single nucleotide variant EYA1-related condition [RCV003400182] Chr8:71199348 [GRCh38]
Chr8:72111583 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1211T>G (p.Phe404Cys) single nucleotide variant not specified [RCV003405155] Chr8:71216841 [GRCh38]
Chr8:72129076 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.838A>C (p.Ile280Leu) single nucleotide variant EYA1-related condition [RCV003416657] Chr8:71271886 [GRCh38]
Chr8:72184121 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.1082G>A (p.Arg361Gln) single nucleotide variant EYA1-related condition [RCV003410661] Chr8:71244661 [GRCh38]
Chr8:72156896 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.811A>T (p.Thr271Ser) single nucleotide variant not provided [RCV003443460] Chr8:71299062 [GRCh38]
Chr8:72211297 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.133_149del (p.Thr44_Glu45insTer) deletion EYA1-related condition [RCV003400046] Chr8:71334150..71334166 [GRCh38]
Chr8:72246385..72246401 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_000503.6(EYA1):c.418+11T>G single nucleotide variant Melnick-Fraser syndrome [RCV003876014] Chr8:71321723 [GRCh38]
Chr8:72233958 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.273-20C>T single nucleotide variant Melnick-Fraser syndrome [RCV003875896] Chr8:71321899 [GRCh38]
Chr8:72234134 [GRCh37]
Chr8:8q13.3
likely benign
NM_000503.6(EYA1):c.1461G>A (p.Ser487=) single nucleotide variant Melnick-Fraser syndrome [RCV003875908] Chr8:71215628 [GRCh38]
Chr8:72127863 [GRCh37]
Chr8:8q13.3
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR562hsa-miR-562Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19789318

Predicted Target Of
Summary Value
Count of predictions:5614
Count of miRNA genes:1032
Interacting mature miRNAs:1255
Transcripts:ENST00000303824, ENST00000340726, ENST00000388740, ENST00000388741, ENST00000388742, ENST00000388743, ENST00000419131, ENST00000422295, ENST00000465115, ENST00000493349, ENST00000496494
Prediction methods: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.

Markers in Region
RH94070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37872,109,725 - 72,109,866UniSTSGRCh37
Build 36872,272,279 - 72,272,420RGDNCBI36
Celera868,106,684 - 68,106,825RGD
Cytogenetic Map8q13.3UniSTS
HuRef867,603,428 - 67,603,569UniSTS
GeneMap99-GB4 RH Map8371.67UniSTS
G62463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37872,221,321 - 72,221,670UniSTSGRCh37
Build 36872,383,875 - 72,384,224RGDNCBI36
Celera868,218,287 - 68,218,633RGD
Cytogenetic Map8q13.3UniSTS
HuRef867,715,356 - 67,715,702UniSTS
TNG Radiation Hybrid Map836411.0UniSTS
SHGC-106306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37872,141,961 - 72,142,245UniSTSGRCh37
Build 36872,304,515 - 72,304,799RGDNCBI36
Celera868,138,921 - 68,139,205RGD
Cytogenetic Map8q13.3UniSTS
HuRef867,635,662 - 67,635,946UniSTS
TNG Radiation Hybrid Map836382.0UniSTS
EYA1__7613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37872,109,664 - 72,110,389UniSTSGRCh37
Build 36872,272,218 - 72,272,943RGDNCBI36
Celera868,106,623 - 68,107,348RGD
HuRef867,603,367 - 67,604,092UniSTS


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
High 4
Medium 3 1 256 1 22 1 38 16 617 24 207 53 1
Low 404 836 700 142 94 22 1215 1165 2008 79 774 1018 128 1 174 893
Below cutoff 1902 1491 507 248 770 210 2899 993 1064 218 356 449 42 998 1751 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB838988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF467247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ000097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ000098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ786168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ786169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV749825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI497179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ223588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU679404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA618315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA746489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB004805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC360066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC409057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY103031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y10260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000303824   ⟹   ENSP00000303221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,439 - 71,361,860 (-)Ensembl
RefSeq Acc Id: ENST00000340726   ⟹   ENSP00000342626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,433 - 71,362,069 (-)Ensembl
RefSeq Acc Id: ENST00000388740   ⟹   ENSP00000373392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,435 - 71,356,689 (-)Ensembl
RefSeq Acc Id: ENST00000388741   ⟹   ENSP00000373393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,199,048 - 71,362,136 (-)Ensembl
RefSeq Acc Id: ENST00000388742   ⟹   ENSP00000373394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,433 - 71,356,678 (-)Ensembl
RefSeq Acc Id: ENST00000388743   ⟹   ENSP00000373395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,199,069 - 71,356,609 (-)Ensembl
RefSeq Acc Id: ENST00000419131   ⟹   ENSP00000410176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,435 - 71,356,511 (-)Ensembl
RefSeq Acc Id: ENST00000422295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,317,659 - 71,322,461 (-)Ensembl
RefSeq Acc Id: ENST00000465115   ⟹   ENSP00000428391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,435 - 71,361,731 (-)Ensembl
RefSeq Acc Id: ENST00000493349   ⟹   ENSP00000428517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,215,613 - 71,299,108 (-)Ensembl
RefSeq Acc Id: ENST00000496494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,199,239 - 71,356,601 (-)Ensembl
RefSeq Acc Id: ENST00000518177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,530,872 - 71,592,025 (-)Ensembl
RefSeq Acc Id: ENST00000519927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,529,407 - 71,548,187 (-)Ensembl
RefSeq Acc Id: ENST00000521794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,568,173 - 71,585,200 (-)Ensembl
RefSeq Acc Id: ENST00000523327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,549,989 - 71,568,767 (-)Ensembl
RefSeq Acc Id: ENST00000523987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,403,440 - 71,547,657 (-)Ensembl
RefSeq Acc Id: ENST00000642391   ⟹   ENSP00000496700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,443 - 71,356,694 (-)Ensembl
RefSeq Acc Id: ENST00000643681   ⟹   ENSP00000495390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,613 - 71,548,136 (-)Ensembl
RefSeq Acc Id: ENST00000644229   ⟹   ENSP00000494568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,688 - 71,547,647 (-)Ensembl
RefSeq Acc Id: ENST00000644424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,448 - 71,270,238 (-)Ensembl
RefSeq Acc Id: ENST00000644712   ⟹   ENSP00000496188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,198,161 - 71,548,055 (-)Ensembl
RefSeq Acc Id: ENST00000645451   ⟹   ENSP00000494888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,321,781 - 71,361,940 (-)Ensembl
RefSeq Acc Id: ENST00000645793   ⟹   ENSP00000496255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,511 - 71,548,061 (-)Ensembl
RefSeq Acc Id: ENST00000647540   ⟹   ENSP00000494438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl871,197,521 - 71,547,626 (-)Ensembl
RefSeq Acc Id: NM_000503   ⟹   NP_000494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,362,069 (-)NCBI
GRCh37872,109,668 - 72,459,888 (-)NCBI
Build 36872,272,222 - 72,437,021 (-)NCBI Archive
HuRef867,603,371 - 67,768,504 (-)ENTREZGENE
CHM1_1872,164,260 - 72,329,031 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,791,526 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001288574   ⟹   NP_001275503
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,362,069 (-)NCBI
HuRef867,603,371 - 67,768,504 (-)NCBI
CHM1_1872,164,260 - 72,329,031 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,791,526 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001288575   ⟹   NP_001275504
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,362,069 (-)NCBI
HuRef867,603,371 - 67,768,504 (-)NCBI
CHM1_1872,164,260 - 72,329,031 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,791,526 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370333   ⟹   NP_001357262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,548,094 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,983,583 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370334   ⟹   NP_001357263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,547,704 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,983,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370335   ⟹   NP_001357264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,548,094 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,983,583 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370336   ⟹   NP_001357265
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,548,094 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,983,583 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001411797   ⟹   NP_001398726
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,362,069 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,791,526 (-)NCBI
RefSeq Acc Id: NM_172058   ⟹   NP_742055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,356,706 (-)NCBI
GRCh37872,109,668 - 72,459,888 (-)NCBI
Build 36872,272,222 - 72,431,422 (-)NCBI Archive
HuRef867,603,371 - 67,768,504 (-)ENTREZGENE
CHM1_1872,164,260 - 72,323,491 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,786,163 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172059   ⟹   NP_742056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,547,704 (-)NCBI
GRCh37872,109,668 - 72,459,888 (-)NCBI
Build 36872,272,222 - 72,431,275 (-)NCBI Archive
HuRef867,603,371 - 67,768,504 (-)ENTREZGENE
CHM1_1872,164,260 - 72,323,313 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,983,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172060   ⟹   NP_742057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,356,706 (-)NCBI
T2T-CHM13v2.0871,626,530 - 71,786,163 (-)NCBI
RefSeq Acc Id: XM_011517484   ⟹   XP_011515786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,548,094 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013202   ⟹   XP_016868691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,547,704 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013208   ⟹   XP_016868697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,362,069 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013213   ⟹   XP_016868702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,322,268 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421519   ⟹   XP_047277475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,547,704 (-)NCBI
RefSeq Acc Id: XM_047421520   ⟹   XP_047277476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,527,901 (-)NCBI
RefSeq Acc Id: XM_047421521   ⟹   XP_047277477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,547,704 (-)NCBI
RefSeq Acc Id: XM_047421522   ⟹   XP_047277478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,547,704 (-)NCBI
RefSeq Acc Id: XM_047421523   ⟹   XP_047277479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,547,704 (-)NCBI
RefSeq Acc Id: XM_047421524   ⟹   XP_047277480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,547,704 (-)NCBI
RefSeq Acc Id: XM_047421525   ⟹   XP_047277481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,535,816 (-)NCBI
RefSeq Acc Id: XM_047421526   ⟹   XP_047277482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,362,069 (-)NCBI
RefSeq Acc Id: XM_047421527   ⟹   XP_047277483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,535,774 (-)NCBI
RefSeq Acc Id: XM_047421528   ⟹   XP_047277484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,548,094 (-)NCBI
RefSeq Acc Id: XM_047421529   ⟹   XP_047277485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,362,069 (-)NCBI
RefSeq Acc Id: XM_047421530   ⟹   XP_047277486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,197,433 - 71,535,816 (-)NCBI
RefSeq Acc Id: XM_054360036   ⟹   XP_054216011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,983,193 (-)NCBI
RefSeq Acc Id: XM_054360037   ⟹   XP_054216012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,983,193 (-)NCBI
RefSeq Acc Id: XM_054360038   ⟹   XP_054216013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,963,391 (-)NCBI
RefSeq Acc Id: XM_054360039   ⟹   XP_054216014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,983,193 (-)NCBI
RefSeq Acc Id: XM_054360040   ⟹   XP_054216015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,983,583 (-)NCBI
RefSeq Acc Id: XM_054360041   ⟹   XP_054216016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,983,193 (-)NCBI
RefSeq Acc Id: XM_054360042   ⟹   XP_054216017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,983,193 (-)NCBI
RefSeq Acc Id: XM_054360043   ⟹   XP_054216018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,791,526 (-)NCBI
RefSeq Acc Id: XM_054360044   ⟹   XP_054216019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,983,193 (-)NCBI
RefSeq Acc Id: XM_054360045   ⟹   XP_054216020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,971,305 (-)NCBI
RefSeq Acc Id: XM_054360046   ⟹   XP_054216021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,791,526 (-)NCBI
RefSeq Acc Id: XM_054360047   ⟹   XP_054216022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,971,263 (-)NCBI
RefSeq Acc Id: XM_054360048   ⟹   XP_054216023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,983,583 (-)NCBI
RefSeq Acc Id: XM_054360049   ⟹   XP_054216024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,791,526 (-)NCBI
RefSeq Acc Id: XM_054360050   ⟹   XP_054216025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,971,305 (-)NCBI
RefSeq Acc Id: XM_054360051   ⟹   XP_054216026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,626,530 - 71,751,725 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000494 (Get FASTA)   NCBI Sequence Viewer  
  NP_001275503 (Get FASTA)   NCBI Sequence Viewer  
  NP_001275504 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357264 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357265 (Get FASTA)   NCBI Sequence Viewer  
  NP_001398726 (Get FASTA)   NCBI Sequence Viewer  
  NP_742055 (Get FASTA)   NCBI Sequence Viewer  
  NP_742056 (Get FASTA)   NCBI Sequence Viewer  
  NP_742057 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515786 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868691 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868697 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868702 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277475 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277476 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277477 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277478 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277479 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277480 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277481 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277482 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277483 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277484 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277485 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277486 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216011 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216012 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216013 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216014 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216015 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216016 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216017 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216018 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216019 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216020 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216021 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216022 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216023 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216024 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216025 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216026 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI21799 (Get FASTA)   NCBI Sequence Viewer  
  AAI21800 (Get FASTA)   NCBI Sequence Viewer  
  AAL73437 (Get FASTA)   NCBI Sequence Viewer  
  BAG54573 (Get FASTA)   NCBI Sequence Viewer  
  BAG58690 (Get FASTA)   NCBI Sequence Viewer  
  CAA03922 (Get FASTA)   NCBI Sequence Viewer  
  CAA03923 (Get FASTA)   NCBI Sequence Viewer  
  CAA71309 (Get FASTA)   NCBI Sequence Viewer  
  CAH05072 (Get FASTA)   NCBI Sequence Viewer  
  CAH05073 (Get FASTA)   NCBI Sequence Viewer  
  EAW86973 (Get FASTA)   NCBI Sequence Viewer  
  EAW86974 (Get FASTA)   NCBI Sequence Viewer  
  EAW86975 (Get FASTA)   NCBI Sequence Viewer  
  EAW86976 (Get FASTA)   NCBI Sequence Viewer  
  EAW86977 (Get FASTA)   NCBI Sequence Viewer  
  EAW86978 (Get FASTA)   NCBI Sequence Viewer  
  EAW86979 (Get FASTA)   NCBI Sequence Viewer  
  EAW86980 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000303221
  ENSP00000303221.7
  ENSP00000342626
  ENSP00000342626.3
  ENSP00000373392
  ENSP00000373392.3
  ENSP00000373393
  ENSP00000373393.2
  ENSP00000373394
  ENSP00000373394.4
  ENSP00000373395
  ENSP00000373395.2
  ENSP00000410176
  ENSP00000410176.1
  ENSP00000428391.1
  ENSP00000428517.2
  ENSP00000494438
  ENSP00000494438.1
  ENSP00000494568
  ENSP00000494568.1
  ENSP00000494888.1
  ENSP00000495390
  ENSP00000495390.1
  ENSP00000496188
  ENSP00000496188.1
  ENSP00000496255
  ENSP00000496255.1
  ENSP00000496700.1
GenBank Protein Q99502 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000494   ⟸   NM_000503
- Peptide Label: isoform 1
- UniProtKB: Q0P516 (UniProtKB/Swiss-Prot),   G5E9R4 (UniProtKB/Swiss-Prot),   A6NHQ0 (UniProtKB/Swiss-Prot),   Q8WX80 (UniProtKB/Swiss-Prot),   Q99502 (UniProtKB/Swiss-Prot),   E7EQM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_742056   ⟸   NM_172059
- Peptide Label: isoform 3
- UniProtKB: A0A2R8YET7 (UniProtKB/TrEMBL),   E7EQM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_742055   ⟸   NM_172058
- Peptide Label: isoform 1
- UniProtKB: Q0P516 (UniProtKB/Swiss-Prot),   G5E9R4 (UniProtKB/Swiss-Prot),   A6NHQ0 (UniProtKB/Swiss-Prot),   Q8WX80 (UniProtKB/Swiss-Prot),   Q99502 (UniProtKB/Swiss-Prot),   E7EQM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275504   ⟸   NM_001288575
- Peptide Label: isoform 5
- UniProtKB: B3KXR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275503   ⟸   NM_001288574
- Peptide Label: isoform 4
- UniProtKB: A6NCB9 (UniProtKB/TrEMBL),   E7EQM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515786   ⟸   XM_011517484
- Peptide Label: isoform X4
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868691   ⟸   XM_017013202
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y6K4 (UniProtKB/TrEMBL),   E7EQM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868697   ⟸   XM_017013208
- Peptide Label: isoform X7
- UniProtKB: F8WB53 (UniProtKB/TrEMBL),   E7EQM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868702   ⟸   XM_017013213
- Peptide Label: isoform X14
- UniProtKB: B3KXR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001357265   ⟸   NM_001370336
- Peptide Label: isoform 7
- UniProtKB: A0A2R8YGM9 (UniProtKB/TrEMBL),   E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357262   ⟸   NM_001370333
- Peptide Label: isoform 6
- UniProtKB: A0A2R8Y6K4 (UniProtKB/TrEMBL),   E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357264   ⟸   NM_001370335
- Peptide Label: isoform 1
- UniProtKB: Q99502 (UniProtKB/Swiss-Prot),   Q0P516 (UniProtKB/Swiss-Prot),   G5E9R4 (UniProtKB/Swiss-Prot),   A6NHQ0 (UniProtKB/Swiss-Prot),   Q8WX80 (UniProtKB/Swiss-Prot),   E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357263   ⟸   NM_001370334
- Peptide Label: isoform 1
- UniProtKB: Q99502 (UniProtKB/Swiss-Prot),   Q0P516 (UniProtKB/Swiss-Prot),   G5E9R4 (UniProtKB/Swiss-Prot),   A6NHQ0 (UniProtKB/Swiss-Prot),   Q8WX80 (UniProtKB/Swiss-Prot),   E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000428391   ⟸   ENST00000465115
RefSeq Acc Id: ENSP00000373392   ⟸   ENST00000388740
RefSeq Acc Id: ENSP00000373393   ⟸   ENST00000388741
RefSeq Acc Id: ENSP00000373394   ⟸   ENST00000388742
RefSeq Acc Id: ENSP00000373395   ⟸   ENST00000388743
RefSeq Acc Id: ENSP00000428517   ⟸   ENST00000493349
RefSeq Acc Id: ENSP00000410176   ⟸   ENST00000419131
RefSeq Acc Id: ENSP00000496700   ⟸   ENST00000642391
RefSeq Acc Id: ENSP00000495390   ⟸   ENST00000643681
RefSeq Acc Id: ENSP00000342626   ⟸   ENST00000340726
RefSeq Acc Id: ENSP00000496188   ⟸   ENST00000644712
RefSeq Acc Id: ENSP00000494568   ⟸   ENST00000644229
RefSeq Acc Id: ENSP00000496255   ⟸   ENST00000645793
RefSeq Acc Id: ENSP00000494888   ⟸   ENST00000645451
RefSeq Acc Id: ENSP00000303221   ⟸   ENST00000303824
RefSeq Acc Id: ENSP00000494438   ⟸   ENST00000647540
RefSeq Acc Id: XP_047277484   ⟸   XM_047421528
- Peptide Label: isoform X11
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277478   ⟸   XM_047421522
- Peptide Label: isoform X5
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277480   ⟸   XM_047421524
- Peptide Label: isoform X8
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277475   ⟸   XM_047421519
- Peptide Label: isoform X2
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277477   ⟸   XM_047421521
- Peptide Label: isoform X4
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277479   ⟸   XM_047421523
- Peptide Label: isoform X6
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277486   ⟸   XM_047421530
- Peptide Label: isoform X13
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277481   ⟸   XM_047421525
- Peptide Label: isoform X9
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277483   ⟸   XM_047421527
- Peptide Label: isoform X10
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277476   ⟸   XM_047421520
- Peptide Label: isoform X3
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277485   ⟸   XM_047421529
- Peptide Label: isoform X12
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277482   ⟸   XM_047421526
- Peptide Label: isoform X9
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001398726   ⟸   NM_001411797
- Peptide Label: isoform 2
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_742057   ⟸   NM_172060
- Peptide Label: isoform 2
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216023   ⟸   XM_054360048
- Peptide Label: isoform X11
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216015   ⟸   XM_054360040
- Peptide Label: isoform X4
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216016   ⟸   XM_054360041
- Peptide Label: isoform X5
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216019   ⟸   XM_054360044
- Peptide Label: isoform X8
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216012   ⟸   XM_054360037
- Peptide Label: isoform X2
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216014   ⟸   XM_054360039
- Peptide Label: isoform X4
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216017   ⟸   XM_054360042
- Peptide Label: isoform X6
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216011   ⟸   XM_054360036
- Peptide Label: isoform X1
- UniProtKB: A0A2R8Y6K4 (UniProtKB/TrEMBL),   E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216025   ⟸   XM_054360050
- Peptide Label: isoform X13
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216020   ⟸   XM_054360045
- Peptide Label: isoform X9
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216022   ⟸   XM_054360047
- Peptide Label: isoform X10
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216013   ⟸   XM_054360038
- Peptide Label: isoform X3
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216024   ⟸   XM_054360049
- Peptide Label: isoform X12
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216018   ⟸   XM_054360043
- Peptide Label: isoform X7
- UniProtKB: F8WB53 (UniProtKB/TrEMBL),   E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216021   ⟸   XM_054360046
- Peptide Label: isoform X9
- UniProtKB: E7EQM5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216026   ⟸   XM_054360051
- Peptide Label: isoform X14
- UniProtKB: B3KXR1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99502-F1-model_v2 AlphaFold Q99502 1-592 view protein structure

Promoters
RGD ID:7213503
Promoter ID:EPDNEW_H12497
Type:initiation region
Name:EYA1_2
Description:EYA transcriptional coactivator and phosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12499  EPDNEW_H12498  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,356,685 - 71,356,745EPDNEW
RGD ID:7213507
Promoter ID:EPDNEW_H12498
Type:initiation region
Name:EYA1_3
Description:EYA transcriptional coactivator and phosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12497  EPDNEW_H12499  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,362,066 - 71,362,126EPDNEW
RGD ID:7213505
Promoter ID:EPDNEW_H12499
Type:initiation region
Name:EYA1_1
Description:EYA transcriptional coactivator and phosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12497  EPDNEW_H12498  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38871,547,704 - 71,547,764EPDNEW
RGD ID:6806746
Promoter ID:HG_KWN:61496
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000303824,   ENST00000388741,   NM_000503,   OTTHUMT00000313793,   OTTHUMT00000313890,   UC003XYV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36872,436,471 - 72,436,971 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3519 AgrOrtholog
COSMIC EYA1 COSMIC
Ensembl Genes ENSG00000104313 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303824 ENTREZGENE
  ENST00000303824.11 UniProtKB/TrEMBL
  ENST00000340726 ENTREZGENE
  ENST00000340726.8 UniProtKB/Swiss-Prot
  ENST00000388740 ENTREZGENE
  ENST00000388740.4 UniProtKB/Swiss-Prot
  ENST00000388741 ENTREZGENE
  ENST00000388741.7 UniProtKB/TrEMBL
  ENST00000388742 ENTREZGENE
  ENST00000388742.8 UniProtKB/Swiss-Prot
  ENST00000388743 ENTREZGENE
  ENST00000388743.6 UniProtKB/TrEMBL
  ENST00000419131 ENTREZGENE
  ENST00000419131.6 UniProtKB/Swiss-Prot
  ENST00000465115.6 UniProtKB/TrEMBL
  ENST00000493349.2 UniProtKB/TrEMBL
  ENST00000642391.1 UniProtKB/TrEMBL
  ENST00000643681 ENTREZGENE
  ENST00000643681.1 UniProtKB/TrEMBL
  ENST00000644229 ENTREZGENE
  ENST00000644229.1 UniProtKB/TrEMBL
  ENST00000644712 ENTREZGENE
  ENST00000644712.1 UniProtKB/TrEMBL
  ENST00000645451.1 UniProtKB/TrEMBL
  ENST00000645793 ENTREZGENE
  ENST00000645793.1 UniProtKB/Swiss-Prot
  ENST00000647540 ENTREZGENE
  ENST00000647540.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.12350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104313 GTEx
HGNC ID HGNC:3519 ENTREZGENE
Human Proteome Map EYA1 Human Proteome Map
InterPro EYA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EYA_dom_metazoan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EYA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EYA_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2138 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2138 ENTREZGENE
OMIM 601653 OMIM
PANTHER PTHR10190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10190:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27931 PharmGKB
UniProt A0A2R8Y6K4 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YET7 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YF73_HUMAN UniProtKB/TrEMBL
  A0A2R8YFS6_HUMAN UniProtKB/TrEMBL
  A0A2R8YGM9 ENTREZGENE, UniProtKB/TrEMBL
  A6NCB9 ENTREZGENE, UniProtKB/TrEMBL
  A6NHQ0 ENTREZGENE
  B3KXR1 ENTREZGENE, UniProtKB/TrEMBL
  E5RHZ7_HUMAN UniProtKB/TrEMBL
  E5RIQ7_HUMAN UniProtKB/TrEMBL
  E7EQM5 ENTREZGENE, UniProtKB/TrEMBL
  EYA1_HUMAN UniProtKB/Swiss-Prot
  F8WB53 ENTREZGENE, UniProtKB/TrEMBL
  G5E9R4 ENTREZGENE
  Q0P516 ENTREZGENE
  Q0P517_HUMAN UniProtKB/TrEMBL
  Q4A4D0_HUMAN UniProtKB/TrEMBL
  Q8WX80 ENTREZGENE
  Q99502 ENTREZGENE
UniProt Secondary A6NHQ0 UniProtKB/Swiss-Prot
  G5E9R4 UniProtKB/Swiss-Prot
  Q0P516 UniProtKB/Swiss-Prot
  Q8WX80 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-06-24 EYA1  EYA transcriptional coactivator and phosphatase 1  EYA1  eyes absent homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED