BCOR (BCL6 corepressor) - Rat Genome Database

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Gene: BCOR (BCL6 corepressor) Homo sapiens
Analyze
Symbol: BCOR
Name: BCL6 corepressor
RGD ID: 1606540
HGNC Page HGNC
Description: Exhibits several functions, including heat shock protein binding activity; histone deacetylase binding activity; and transcription corepressor activity. Contributes to ubiquitin-protein transferase activity. Involved in several processes, including histone H2A monoubiquitination; negative regulation of biomineral tissue development; and negative regulation of histone methylation. Localizes to BCOR complex and nucleoplasm. Implicated in syndromic microphthalmia 1 and syndromic microphthalmia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANOP2; BCL-6 coreceptor; BCL-6 corepressor; BCL-6 interacting corepressor; BCL6 co-repressor; BCL6 interacting corepressor; FLJ20285; FLJ38041; KIAA1575; MAA2; MCOPS2; MGC131961; MGC71031
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: BCORP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX40,049,815 - 40,177,329 (-)EnsemblGRCh38hg38GRCh38
GRCh38X40,051,246 - 40,177,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X39,910,499 - 40,036,582 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X39,795,561 - 39,846,998 (-)NCBINCBI36hg18NCBI36
CeleraX44,049,354 - 44,175,356 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX37,648,006 - 37,771,447 (-)NCBIHuRef
CHM1_1X39,942,309 - 40,068,287 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe cutaneous syndactyly  (IAGP)
2-3 toe syndactyly  (IAGP)
Abdominal pain  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal palmar dermatoglyphics  (IAGP)
Abnormal shoulder morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of dental morphology  (IAGP)
Adrenal insufficiency  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of maxillary lateral incisor  (IAGP)
Aggressive behavior  (IAGP)
Alcoholism  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Ankyloblepharon  (IAGP)
Anophthalmia  (IAGP)
Anorexia  (IAGP)
Anteverted ears  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Asymmetry of the ears  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Bicuspid aortic valve  (IAGP)
Bifid nasal tip  (IAGP)
Bifid uvula  (IAGP)
Blepharophimosis  (IAGP)
Blindness  (IAGP)
Bone marrow hypercellularity  (IAGP)
Bone pain  (IAGP)
Broad hallux  (IAGP)
Broad nasal tip  (IAGP)
Broad palm  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Chorioretinal coloboma  (IAGP)
Chronic infection  (IAGP)
Ciliary body coloboma  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Complete duplication of thumb phalanx  (IAGP)
Contracture of the proximal interphalangeal joint of the 2nd toe  (IAGP)
Contracture of the proximal interphalangeal joint of the 3rd toe  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Cupped ear  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased body weight  (IAGP)
Delayed eruption of teeth  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Developmental cataract  (IAGP)
Dextrocardia  (IAGP)
Diffuse alveolar hemorrhage  (IAGP)
Disseminated intravascular coagulation  (IAGP)
Double outlet right ventricle  (IAGP)
Down-sloping shoulders  (IAGP)
Ecchymosis  (IAGP)
Ectopia lentis  (IAGP)
Epistaxis  (IAGP)
Exertional dyspnea  (IAGP)
Exotropia  (IAGP)
External ear malformation  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Finger syndactyly  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of the 2nd toe  (IAGP)
Flexion contracture of the 4th toe  (IAGP)
Fused teeth  (IAGP)
Gangrene  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
Gingival bleeding  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hammertoe  (IAGP)
Hand clenching  (IAGP)
Hearing impairment  (IAGP)
Hematuria  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hyperlordosis  (IAGP)
Hypofibrinogenemia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic aortic arch  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased number of teeth  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intestinal malrotation  (IAGP)
Iris coloboma  (IAGP)
Joint contracture of the hand  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Laterally curved eyebrow  (IAGP)
Leukocytosis  (IAGP)
Leukopenia  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Long thorax  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lymphadenopathy  (IAGP)
Metrorrhagia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Misalignment of teeth  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Narrow chest  (IAGP)
Narrow face  (IAGP)
Neurological speech impairment  (IAGP)
Neutropenia  (IAGP)
Nystagmus  (IAGP)
Oligodontia  (IAGP)
Optic nerve coloboma  (IAGP)
Oral cavity bleeding  (IAGP)
Oral cleft  (IAGP)
Overfolded helix  (IAGP)
Pancytopenia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Persistence of primary teeth  (IAGP)
Petechiae  (IAGP)
Phthisis bulbi  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular skin tag  (IAGP)
Productive cough  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pulmonic stenosis  (IAGP)
Pyloric stenosis  (IAGP)
Radial deviation of finger  (IAGP)
Radiculomegaly  (IAGP)
Radioulnar synostosis  (IAGP)
Rectal prolapse  (IAGP)
Recurrent otitis media  (IAGP)
Remnants of the hyaloid vascular system  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Retinal detachment  (IAGP)
Sandal gap  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Self-mutilation  (IAGP)
Sensorineural hearing impairment  (IAGP)
Septate vagina  (IAGP)
Short clavicles  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Single median maxillary incisor  (IAGP)
Spastic diplegia  (IAGP)
Spastic paraparesis  (IAGP)
Stomatitis  (IAGP)
Submucous cleft hard palate  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Thick eyebrow  (IAGP)
Thrombocytopenia  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Vertigo  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:10898795   PMID:10997877   PMID:11777915   PMID:12116202   PMID:12477932   PMID:12522145   PMID:12776190   PMID:14702039   PMID:15302935   PMID:15489334   PMID:15770227  
PMID:15878880   PMID:16713569   PMID:16943429   PMID:17517692   PMID:18280243   PMID:18801742   PMID:19121354   PMID:19367324   PMID:19578371   PMID:20301552   PMID:20301694   PMID:20431927  
PMID:20807888   PMID:20854876   PMID:22012066   PMID:22301464   PMID:22325352   PMID:22387997   PMID:23074094   PMID:23470693   PMID:23523425   PMID:23557072   PMID:23658227   PMID:23911289  
PMID:24047651   PMID:24146931   PMID:24211586   PMID:24285434   PMID:24457600   PMID:24694763   PMID:24805859   PMID:24981860   PMID:25331958   PMID:25360585   PMID:25416956   PMID:25490446  
PMID:25515538   PMID:25533466   PMID:25596268   PMID:26054978   PMID:26098867   PMID:26186194   PMID:26487511   PMID:26496610   PMID:26516930   PMID:26573325   PMID:26638075   PMID:26687479  
PMID:26752546   PMID:26773734   PMID:26945340   PMID:26972000   PMID:27000436   PMID:27107012   PMID:27428733   PMID:27505670   PMID:27609421   PMID:27631520   PMID:27705803   PMID:27825128  
PMID:27880917   PMID:28256570   PMID:28317252   PMID:28514442   PMID:28611094   PMID:28621321   PMID:28751561   PMID:28794006   PMID:28817404   PMID:28833375   PMID:28864350   PMID:28877060  
PMID:29117863   PMID:29200103   PMID:29229926   PMID:29300189   PMID:29337181   PMID:29395067   PMID:29502955   PMID:29507755   PMID:29568061   PMID:29663558   PMID:29851702   PMID:29974297  
PMID:30046887   PMID:30064235   PMID:30126017   PMID:30257034   PMID:30380541   PMID:30396568   PMID:30415952   PMID:30804394   PMID:30804502   PMID:30864973   PMID:31422590   PMID:31527615  
PMID:31624251   PMID:31647130   PMID:31678930   PMID:31753913   PMID:31876361   PMID:31925334   PMID:32011345   PMID:32156473   PMID:32594217   PMID:32628469   PMID:33283733  


Genomics

Comparative Map Data
BCOR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX40,049,815 - 40,177,329 (-)EnsemblGRCh38hg38GRCh38
GRCh38X40,051,246 - 40,177,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X39,910,499 - 40,036,582 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X39,795,561 - 39,846,998 (-)NCBINCBI36hg18NCBI36
CeleraX44,049,354 - 44,175,356 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX37,648,006 - 37,771,447 (-)NCBIHuRef
CHM1_1X39,942,309 - 40,068,287 (-)NCBICHM1_1
Bcor
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X11,902,976 - 12,026,769 (-)NCBIGRCm39mm39
GRCm39 EnsemblX11,902,979 - 12,026,594 (-)Ensembl
GRCm38X12,036,737 - 12,160,516 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX12,036,740 - 12,160,355 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X11,613,863 - 11,737,481 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X11,193,696 - 11,237,013 (-)NCBImm8
CeleraX9,733,265 - 9,856,163 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
Bcor
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X10,609,756 - 10,729,613 (+)NCBI
Rnor_6.0 EnsemblX11,648,989 - 11,691,099 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X11,570,155 - 11,692,022 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X12,366,781 - 12,488,777 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X22,699,778 - 22,820,234 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX11,211,546 - 11,253,981 (+)NCBICelera
Cytogenetic MapXq12NCBI
Bcor
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555661,412,540 - 1,457,329 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555661,412,540 - 1,510,339 (-)NCBIChiLan1.0ChiLan1.0
BCOR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X40,203,565 - 40,328,788 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX40,202,235 - 40,249,986 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X32,497,931 - 32,624,307 (-)NCBIMhudiblu_PPA_v0panPan3
BCOR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X34,621,314 - 34,735,502 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX34,621,886 - 34,645,766 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX21,969,928 - 22,084,065 (-)NCBI
ROS_Cfam_1.0X34,669,641 - 34,783,826 (-)NCBI
UMICH_Zoey_3.1X34,749,439 - 34,863,578 (-)NCBI
UNSW_CanFamBas_1.0X34,721,876 - 34,836,005 (-)NCBI
UU_Cfam_GSD_1.0X34,764,590 - 34,878,770 (-)NCBI
Bcor
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X26,923,332 - 26,971,483 (-)NCBI
SpeTri2.0NW_0049365026,764,043 - 6,812,194 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCOR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X35,768,013 - 35,891,013 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X39,823,458 - 39,946,360 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCOR
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X37,191,242 - 37,319,966 (-)NCBI
ChlSab1.1 EnsemblX37,192,874 - 37,319,782 (-)Ensembl
Vero_WHO_p1.0NW_0236660762,405,573 - 2,532,624 (-)NCBI
Bcor
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476215,338,331 - 15,465,683 (+)NCBI

Position Markers
SHGC-56557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X39,910,757 - 39,910,953UniSTSGRCh37
Build 36X39,795,701 - 39,795,897RGDNCBI36
CeleraX44,049,612 - 44,049,808RGD
Cytogenetic MapXp11.4UniSTS
HuRefX37,648,264 - 37,648,460UniSTS
TNG Radiation Hybrid MapX10599.0UniSTS
DXS992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,750,317 - 30,750,519UniSTSGRCh37
Build 36X30,660,238 - 30,660,440RGDNCBI36
CeleraX34,874,338 - 34,874,538RGD
Cytogenetic MapXp11.4UniSTS
HuRefX28,488,540 - 28,488,740UniSTS
Whitehead-RH MapX24.4UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
RH91894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X39,959,072 - 39,959,206UniSTSGRCh37
Build 36X39,844,016 - 39,844,150RGDNCBI36
CeleraX44,097,927 - 44,098,061RGD
Cytogenetic MapXp11.4UniSTS
HuRefX37,696,108 - 37,696,242UniSTS
GeneMap99-GB4 RH MapX121.02UniSTS
RH101975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X39,910,644 - 39,910,782UniSTSGRCh37
Build 36X39,795,588 - 39,795,726RGDNCBI36
CeleraX44,049,499 - 44,049,637RGD
Cytogenetic MapXp11.4UniSTS
HuRefX37,648,151 - 37,648,289UniSTS
GeneMap99-GB4 RH MapX121.02UniSTS
DXS228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X42,722,520 - 42,722,667UniSTSGRCh37
GRCh37X42,730,662 - 42,730,855UniSTSGRCh37
Build 36X42,615,606 - 42,615,799RGDNCBI36
CeleraX46,874,163 - 46,874,356RGD
CeleraX46,866,021 - 46,866,168UniSTS
Cytogenetic MapXp11.4UniSTS
HuRefX40,461,901 - 40,462,094UniSTS
HuRefX40,453,698 - 40,453,845UniSTS
SHGC-147935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X39,999,099 - 39,999,296UniSTSGRCh37
Build 36X39,884,043 - 39,884,240RGDNCBI36
CeleraX44,137,873 - 44,138,070RGD
Cytogenetic MapXp11.4UniSTS
HuRefX37,735,469 - 37,735,666UniSTS
DXS7568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X39,970,707 - 39,970,803UniSTSGRCh37
Build 36X39,855,651 - 39,855,747RGDNCBI36
CeleraX44,109,527 - 44,109,623RGD
Cytogenetic MapXp11.4UniSTS
HuRefX37,707,241 - 37,707,337UniSTS
GeneMap99-GB4 RH MapX117.87UniSTS
NCBI RH MapX143.5UniSTS
G66543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y21,645,508 - 21,645,582UniSTSGRCh37
GRCh37X39,933,156 - 39,933,230UniSTSGRCh37
Build 36X39,818,100 - 39,818,174RGDNCBI36
CeleraY6,127,959 - 6,128,033UniSTS
CeleraX44,072,011 - 44,072,085RGD
Cytogenetic MapYq11.222UniSTS
Cytogenetic MapXp11.4UniSTS
HuRefY15,355,518 - 15,355,592UniSTS
HuRefX37,670,420 - 37,670,494UniSTS
UniSTS:482364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X39,938,067 - 39,938,468UniSTSGRCh37
GRCh37454,966,490 - 54,968,115UniSTSGRCh37
Build 36X39,823,011 - 39,823,412RGDNCBI36
Celera452,466,169 - 52,467,794UniSTS
CeleraX44,076,922 - 44,077,323RGD
HuRefX37,675,684 - 37,676,085UniSTS
HuRef450,913,453 - 50,915,078UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4248
Count of miRNA genes:1100
Interacting mature miRNAs:1355
Transcripts:ENST00000342274, ENST00000378444, ENST00000378455, ENST00000378463, ENST00000397354, ENST00000406200, ENST00000412952, ENST00000413905, ENST00000427012, ENST00000442018, ENST00000490976
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1161 1245 1044 153 841 91 2936 700 940 211 1010 1395 75 407 1992 2
Low 1271 1650 678 469 1020 373 1420 1492 2765 206 439 212 97 1 797 796 2
Below cutoff 90 3 87 3 10 2 7 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001123383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001123384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001123385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF317391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF317392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL698729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY316592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342274   ⟹   ENSP00000345923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,248 - 40,177,329 (-)Ensembl
RefSeq Acc Id: ENST00000378444   ⟹   ENSP00000367705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,251 - 40,097,958 (-)Ensembl
RefSeq Acc Id: ENST00000378455   ⟹   ENSP00000367716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,246 - 40,177,329 (-)Ensembl
RefSeq Acc Id: ENST00000378463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,049,815 - 40,068,120 (-)Ensembl
RefSeq Acc Id: ENST00000397354   ⟹   ENSP00000380512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,246 - 40,097,403 (-)Ensembl
RefSeq Acc Id: ENST00000406200   ⟹   ENSP00000384485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,062,955 - 40,177,083 (-)Ensembl
RefSeq Acc Id: ENST00000412952   ⟹   ENSP00000390273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,077,844 - 40,146,629 (-)Ensembl
RefSeq Acc Id: ENST00000413905   ⟹   ENSP00000408006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,049,815 - 40,064,549 (-)Ensembl
RefSeq Acc Id: ENST00000427012   ⟹   ENSP00000403823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,312 - 40,073,756 (-)Ensembl
RefSeq Acc Id: ENST00000442018   ⟹   ENSP00000387552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,255 - 40,062,937 (-)Ensembl
RefSeq Acc Id: ENST00000490976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,071,906 - 40,077,969 (-)Ensembl
RefSeq Acc Id: ENST00000615339   ⟹   ENSP00000483217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,071,944 - 40,077,957 (-)Ensembl
RefSeq Acc Id: ENST00000672265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,318 - 40,056,233 (-)Ensembl
RefSeq Acc Id: ENST00000672922   ⟹   ENSP00000499892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,074,683 - 40,097,979 (-)Ensembl
RefSeq Acc Id: ENST00000673391   ⟹   ENSP00000500446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,272 - 40,096,612 (-)Ensembl
RefSeq Acc Id: ENST00000679513   ⟹   ENSP00000505761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,251 - 40,096,192 (-)Ensembl
RefSeq Acc Id: ENST00000680831   ⟹   ENSP00000505507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,051,251 - 40,098,456 (-)Ensembl
RefSeq Acc Id: NM_001123383   ⟹   NP_001116855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,329 (-)NCBI
GRCh37X39,910,499 - 40,036,643 (-)NCBI
HuRefX37,648,006 - 37,771,447 (-)ENTREZGENE
CHM1_1X39,942,309 - 40,068,287 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001123384   ⟹   NP_001116856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,251 - 40,177,277 (-)NCBI
GRCh37X39,910,499 - 40,036,643 (-)NCBI
HuRefX37,648,006 - 37,771,447 (-)ENTREZGENE
CHM1_1X39,942,309 - 40,068,287 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001123385   ⟹   NP_001116857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,251 - 40,097,958 (-)NCBI
GRCh37X39,910,499 - 40,036,643 (-)NCBI
HuRefX37,648,006 - 37,771,447 (-)ENTREZGENE
CHM1_1X39,942,309 - 39,988,530 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017745   ⟹   NP_060215
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,251 - 40,097,958 (-)NCBI
GRCh37X39,910,499 - 40,036,643 (-)NCBI
Build 36X39,795,561 - 39,846,998 (-)NCBI Archive
HuRefX37,648,006 - 37,771,447 (-)ENTREZGENE
CHM1_1X39,942,309 - 39,988,530 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272616   ⟹   XP_005272673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,390 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272618   ⟹   XP_005272675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,980 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272619   ⟹   XP_005272676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272620   ⟹   XP_005272677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724536   ⟹   XP_006724599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,945 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543929   ⟹   XP_011542231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,604 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543930   ⟹   XP_011542232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,640 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543931   ⟹   XP_011542233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,254 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029615   ⟹   XP_016885104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,945 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029616   ⟹   XP_016885105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,265 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001116855 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116856 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116857 (Get FASTA)   NCBI Sequence Viewer  
  NP_060215 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272673 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272675 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272676 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272677 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724599 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542231 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542232 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542233 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885104 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885105 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG41429 (Get FASTA)   NCBI Sequence Viewer  
  AAG41430 (Get FASTA)   NCBI Sequence Viewer  
  AAH09675 (Get FASTA)   NCBI Sequence Viewer  
  AAH63536 (Get FASTA)   NCBI Sequence Viewer  
  AAI14221 (Get FASTA)   NCBI Sequence Viewer  
  AAI28388 (Get FASTA)   NCBI Sequence Viewer  
  AAR08265 (Get FASTA)   NCBI Sequence Viewer  
  BAA91061 (Get FASTA)   NCBI Sequence Viewer  
  BAB13401 (Get FASTA)   NCBI Sequence Viewer  
  BAB85037 (Get FASTA)   NCBI Sequence Viewer  
  BAG53034 (Get FASTA)   NCBI Sequence Viewer  
  EAW59425 (Get FASTA)   NCBI Sequence Viewer  
  EAW59426 (Get FASTA)   NCBI Sequence Viewer  
  EAW59427 (Get FASTA)   NCBI Sequence Viewer  
  EAW59428 (Get FASTA)   NCBI Sequence Viewer  
  EAW59429 (Get FASTA)   NCBI Sequence Viewer  
  EAW59430 (Get FASTA)   NCBI Sequence Viewer  
  Q6W2J9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001116856   ⟸   NM_001123384
- Peptide Label: isoform b
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001116855   ⟸   NM_001123383
- Peptide Label: isoform a
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060215   ⟸   NM_017745
- Peptide Label: isoform a
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001116857   ⟸   NM_001123385
- Peptide Label: isoform c
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272673   ⟸   XM_005272616
- Peptide Label: isoform X1
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272675   ⟸   XM_005272618
- Peptide Label: isoform X1
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272677   ⟸   XM_005272620
- Peptide Label: isoform X4
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272676   ⟸   XM_005272619
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724599   ⟸   XM_006724536
- Peptide Label: isoform X1
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542233   ⟸   XM_011543931
- Peptide Label: isoform X1
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542232   ⟸   XM_011543930
- Peptide Label: isoform X1
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542231   ⟸   XM_011543929
- Peptide Label: isoform X1
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885104   ⟸   XM_017029615
- Peptide Label: isoform X3
- UniProtKB: Q6W2J9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885105   ⟸   XM_017029616
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000500446   ⟸   ENST00000673391
RefSeq Acc Id: ENSP00000390273   ⟸   ENST00000412952
RefSeq Acc Id: ENSP00000403823   ⟸   ENST00000427012
RefSeq Acc Id: ENSP00000408006   ⟸   ENST00000413905
RefSeq Acc Id: ENSP00000387552   ⟸   ENST00000442018
RefSeq Acc Id: ENSP00000367705   ⟸   ENST00000378444
RefSeq Acc Id: ENSP00000367716   ⟸   ENST00000378455
RefSeq Acc Id: ENSP00000483217   ⟸   ENST00000615339
RefSeq Acc Id: ENSP00000384485   ⟸   ENST00000406200
RefSeq Acc Id: ENSP00000345923   ⟸   ENST00000342274
RefSeq Acc Id: ENSP00000380512   ⟸   ENST00000397354
RefSeq Acc Id: ENSP00000499892   ⟸   ENST00000672922
RefSeq Acc Id: ENSP00000505761   ⟸   ENST00000679513
RefSeq Acc Id: ENSP00000505507   ⟸   ENST00000680831
Protein Domains
ANK_REP_REGION   BCOR

Promoters
RGD ID:6808535
Promoter ID:HG_KWN:66449
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:OTTHUMT00000060665,   UC010NHB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X39,806,916 - 39,808,067 (-)MPROMDB
RGD ID:6808534
Promoter ID:HG_KWN:66450
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   NB4
Transcripts:OTTHUMT00000060664
Position:
Human AssemblyChrPosition (strand)Source
Build 36X39,808,511 - 39,809,677 (-)MPROMDB
RGD ID:6808760
Promoter ID:HG_KWN:66451
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378463
Position:
Human AssemblyChrPosition (strand)Source
Build 36X39,812,216 - 39,812,727 (-)MPROMDB
RGD ID:6808537
Promoter ID:HG_KWN:66452
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   NB4
Transcripts:OTTHUMT00000060672
Position:
Human AssemblyChrPosition (strand)Source
Build 36X39,821,811 - 39,822,862 (-)MPROMDB
RGD ID:6808536
Promoter ID:HG_KWN:66453
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000342274,   NM_001123385,   NM_017745,   UC004DEQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X39,841,541 - 39,842,137 (-)MPROMDB
RGD ID:13605064
Promoter ID:EPDNEW_H28716
Type:initiation region
Name:BCOR_2
Description:BCL6 corepressor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28717  EPDNEW_H28718  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,097,475 - 40,097,535EPDNEW
RGD ID:13605066
Promoter ID:EPDNEW_H28717
Type:initiation region
Name:BCOR_1
Description:BCL6 corepressor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28716  EPDNEW_H28718  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,097,958 - 40,098,018EPDNEW
RGD ID:13605068
Promoter ID:EPDNEW_H28718
Type:initiation region
Name:BCOR_3
Description:BCL6 corepressor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28716  EPDNEW_H28717  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,177,277 - 40,177,337EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001123385.2(BCOR):c.2287C>T (p.Arg763Trp) single nucleotide variant not provided [RCV000254917] ChrX:40073059 [GRCh38]
ChrX:39932312 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) indel Oculofaciocardiodental syndrome [RCV001088553]|not provided [RCV000722304] ChrX:40072922..40072923 [GRCh38]
ChrX:39932175..39932176 [GRCh37]
ChrX:Xp11.4
benign|uncertain significance
NM_001123385.2(BCOR):c.221G>A (p.Arg74His) single nucleotide variant not provided [RCV000519315] ChrX:40075125 [GRCh38]
ChrX:39934378 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2691G>C (p.Ser897=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640960] ChrX:40072655 [GRCh38]
ChrX:39931908 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.1848C>T (p.Gly616=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000556882] ChrX:40073498 [GRCh38]
ChrX:39932751 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) single nucleotide variant Oculofaciocardiodental syndrome [RCV000558239] ChrX:40072927 [GRCh38]
ChrX:39932180 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3712_3729del (p.Thr1238_Pro1243del) deletion not provided [RCV000722894] ChrX:40063726..40063743 [GRCh38]
ChrX:39922979..39922996 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3036C>T (p.Pro1012=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000549868] ChrX:40071652 [GRCh38]
ChrX:39930905 [GRCh37]
ChrX:Xp11.4
benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) single nucleotide variant Oculofaciocardiodental syndrome [RCV000550235] ChrX:40073180 [GRCh38]
ChrX:39932433 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.5037A>T (p.Ile1679=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000553963] ChrX:40052340 [GRCh38]
ChrX:39911593 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV000011658] ChrX:40075092 [GRCh38]
ChrX:39934345 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.4174-1G>T single nucleotide variant Oculofaciocardiodental syndrome [RCV000011659] ChrX:40062394 [GRCh38]
ChrX:39921647 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV000011660] ChrX:40072420 [GRCh38]
ChrX:39931673 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.3983del (p.Gln1328fs) deletion Oculofaciocardiodental syndrome [RCV000011661] ChrX:40062936 [GRCh38]
ChrX:39922189 [GRCh37]
ChrX:Xp11.4
pathogenic
BCOR, EX9-15DEL deletion Oculofaciocardiodental syndrome [RCV000011662] ChrX:Xp11.4 pathogenic
BCOR, 2-BP DEL, 2488AG deletion Oculofaciocardiodental syndrome [RCV000011663] ChrX:Xp11.4 pathogenic
NM_001123385.2(BCOR):c.3286del (p.Glu1096fs) deletion Oculofaciocardiodental syndrome [RCV000011664] ChrX:40064552 [GRCh38]
ChrX:39923805 [GRCh37]
ChrX:Xp11.4
pathogenic
BCOR, 60-KB DEL deletion Oculofaciocardiodental syndrome [RCV000011665] ChrX:Xp11.4 pathogenic
NM_001123385.2(BCOR):c.2613del (p.Phe871fs) deletion Oculofaciocardiodental syndrome [RCV000011666] ChrX:40072733 [GRCh38]
ChrX:39931986 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:39666120-40255787)x2 copy number gain See cases [RCV000054167] ChrX:39666120..40255787 [GRCh38]
ChrX:39525374..40115040 [GRCh37]
ChrX:39410318..39999984 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001123385.2(BCOR):c.1155G>A (p.Ala385=) single nucleotide variant not provided [RCV000081808] ChrX:40074191 [GRCh38]
ChrX:39933444 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000607441]|not specified [RCV000081809] ChrX:40074086 [GRCh38]
ChrX:39933339 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) single nucleotide variant History of neurodevelopmental disorder [RCV000720973]|Oculofaciocardiodental syndrome [RCV000472235]|not specified [RCV000081810] ChrX:40073696 [GRCh38]
ChrX:39932949 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000601319]|not specified [RCV000081811] ChrX:40073654 [GRCh38]
ChrX:39932907 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001123385.2(BCOR):c.1791C>T (p.His597=) single nucleotide variant History of neurodevelopmental disorder [RCV000720930]|Oculofaciocardiodental syndrome [RCV000461713]|not provided [RCV000827068]|not specified [RCV000081812] ChrX:40073555 [GRCh38]
ChrX:39932808 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) single nucleotide variant Lenz microphthalmia syndrome [RCV000766092]|not provided [RCV000081813] ChrX:40073221 [GRCh38]
ChrX:39932474 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3413T>C (p.Val1138Ala) single nucleotide variant not provided [RCV000476415]|not specified [RCV000081814] ChrX:40064425 [GRCh38]
ChrX:39923678 [GRCh37]
ChrX:Xp11.4
benign|likely benign|uncertain significance
NM_001123385.2(BCOR):c.3468del (p.Leu1157fs) deletion not provided [RCV000081815] ChrX:40064370 [GRCh38]
ChrX:39923623 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.4173+5C>T single nucleotide variant not provided [RCV000081816] ChrX:40062741 [GRCh38]
ChrX:39921994 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4977-4G>T single nucleotide variant History of neurodevelopmental disorder [RCV000721027]|Oculofaciocardiodental syndrome [RCV000612794]|not specified [RCV000081817] ChrX:40052404 [GRCh38]
ChrX:39911657 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) single nucleotide variant History of neurodevelopmental disorder [RCV000720987]|Oculofaciocardiodental syndrome [RCV001079115]|not provided [RCV000828281]|not specified [RCV000116493] ChrX:40073567 [GRCh38]
ChrX:39932820 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_001123385.2(BCOR):c.11C>T (p.Ala4Val) single nucleotide variant not specified [RCV000120205] ChrX:40077919 [GRCh38]
ChrX:39937172 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.1264A>G (p.Ser422Gly) single nucleotide variant not specified [RCV000120206] ChrX:40074082 [GRCh38]
ChrX:39933335 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) single nucleotide variant Oculofaciocardiodental syndrome [RCV000535111]|not specified [RCV000120207] ChrX:40072392 [GRCh38]
ChrX:39931645 [GRCh37]
ChrX:Xp11.4
uncertain significance|not provided
NM_001123385.2(BCOR):c.586A>C (p.Met196Leu) single nucleotide variant not specified [RCV000120208] ChrX:40074760 [GRCh38]
ChrX:39934013 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.1016C>T (p.Pro339Leu) single nucleotide variant not specified [RCV000120209] ChrX:40074330 [GRCh38]
ChrX:39933583 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.1448C>T (p.Pro483Leu) single nucleotide variant not provided [RCV000470690]|not specified [RCV000120210] ChrX:40073898 [GRCh38]
ChrX:39933151 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_001123385.2(BCOR):c.1465C>T (p.Pro489Ser) single nucleotide variant not specified [RCV000120211] ChrX:40073881 [GRCh38]
ChrX:39933134 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.2509C>G (p.Pro837Ala) single nucleotide variant not specified [RCV000120212] ChrX:40072837 [GRCh38]
ChrX:39932090 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV000861482]|not specified [RCV000120213] ChrX:40074720 [GRCh38]
ChrX:39933973 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_001123385.2(BCOR):c.2129G>A (p.Arg710His) single nucleotide variant Oculofaciocardiodental syndrome [RCV000537612]|not specified [RCV000120214] ChrX:40073217 [GRCh38]
ChrX:39932470 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_001123385.2(BCOR):c.305G>C (p.Arg102Pro) single nucleotide variant not specified [RCV000120215] ChrX:40075041 [GRCh38]
ChrX:39934294 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile) single nucleotide variant not specified [RCV000120216] ChrX:40074937 [GRCh38]
ChrX:39934190 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.365T>C (p.Met122Thr) single nucleotide variant not specified [RCV000120217] ChrX:40074981 [GRCh38]
ChrX:39934234 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.4766G>A (p.Arg1589His) single nucleotide variant Oculofaciocardiodental syndrome [RCV001319723]|not specified [RCV000120218] ChrX:40054309 [GRCh38]
ChrX:39913562 [GRCh37]
ChrX:Xp11.4
uncertain significance|not provided
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640951]|not specified [RCV000120219] ChrX:40052143 [GRCh38]
ChrX:39911396 [GRCh37]
ChrX:Xp11.4
uncertain significance|not provided
NM_001123385.2(BCOR):c.3440C>T (p.Thr1147Ile) single nucleotide variant not specified [RCV000120220] ChrX:40064398 [GRCh38]
ChrX:39923651 [GRCh37]
ChrX:Xp11.4
not provided
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys) single nucleotide variant Congenital cataract [RCV000203411]|Oculofaciocardiodental syndrome [RCV000864109]|not specified [RCV000120221] ChrX:40064561 [GRCh38]
ChrX:39923814 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|benign|uncertain significance|not provided
NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV000862923]|not specified [RCV000120222] ChrX:40063653 [GRCh38]
ChrX:39922906 [GRCh37]
ChrX:Xp11.4
benign|not provided
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV000529058]|not specified [RCV000120223] ChrX:40062945 [GRCh38]
ChrX:39922198 [GRCh37]
ChrX:Xp11.4
benign|uncertain significance|not provided
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp) single nucleotide variant not specified [RCV000120224] ChrX:40062905 [GRCh38]
ChrX:39922158 [GRCh37]
ChrX:Xp11.4
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.4862dup (p.Gly1622fs) duplication not provided [RCV000174783] ChrX:40053999..40054000 [GRCh38]
ChrX:39913252..39913253 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.3512C>T (p.Pro1171Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001332842] ChrX:40063943 [GRCh38]
ChrX:39923196 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) single nucleotide variant Oculofaciocardiodental syndrome [RCV001078522]|not provided [RCV000174383] ChrX:40055385 [GRCh38]
ChrX:39914638 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:39842449-40117345)x2 copy number gain See cases [RCV000135380] ChrX:39842449..40117345 [GRCh38]
ChrX:39701703..39976598 [GRCh37]
ChrX:39586647..39861542 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp11.4(chrX:40165688-40662855)x2 copy number gain See cases [RCV000135289] ChrX:40165688..40662855 [GRCh38]
ChrX:40024941..40522107 [GRCh37]
ChrX:39909885..40407051 [NCBI36]
ChrX:Xp11.4
likely pathogenic
GRCh38/hg38 Xp11.4(chrX:40075793-40934203)x2 copy number gain See cases [RCV000134897] ChrX:40075793..40934203 [GRCh38]
ChrX:39935046..40793456 [GRCh37]
ChrX:39819990..40678400 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.3052-14C>T single nucleotide variant not provided [RCV000152857] ChrX:40071173 [GRCh38]
ChrX:39930426 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001082929]|not provided [RCV000723847]|not specified [RCV000192633] ChrX:40072832 [GRCh38]
ChrX:39932085 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.776C>A (p.Ser259Ter) single nucleotide variant not provided [RCV000152859] ChrX:40074570 [GRCh38]
ChrX:39933823 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.711C>T (p.Val237=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640958]|not provided [RCV000152860] ChrX:40074635 [GRCh38]
ChrX:39933888 [GRCh37]
ChrX:Xp11.4
benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NC_000023.11:g.(?_40051246)_(40075180_?)del deletion Oculofaciocardiodental syndrome [RCV000157080] ChrX:40051246..40075180 [GRCh38]
ChrX:Xp11.4
pathogenic|not provided
NM_001123385.2(BCOR):c.4742-141_4977-665del deletion Oculofaciocardiodental syndrome [RCV000157081] ChrX:40053065..40054474 [GRCh38]
ChrX:39912318..39913727 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_001123385.2(BCOR):c.86+9G>A single nucleotide variant not provided [RCV000175882] ChrX:40077835 [GRCh38]
ChrX:39937088 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) deletion Oculofaciocardiodental syndrome [RCV000157082] ChrX:40062259..40062263 [GRCh38]
ChrX:39921512..39921516 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_001123385.2(BCOR):c.422C>T (p.Pro141Leu) single nucleotide variant not provided [RCV000178309] ChrX:40074924 [GRCh38]
ChrX:39934177 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.837C>T (p.Leu279=) single nucleotide variant not provided [RCV000178310] ChrX:40074509 [GRCh38]
ChrX:39933762 [GRCh37]
ChrX:Xp11.4
conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=) single nucleotide variant not provided [RCV000178311] ChrX:40072436 [GRCh38]
ChrX:39931689 [GRCh37]
ChrX:Xp11.4
conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.3446C>T (p.Ala1149Val) single nucleotide variant not provided [RCV000179954] ChrX:40064392 [GRCh38]
ChrX:39923645 [GRCh37]
ChrX:Xp11.4
conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001089286]|not provided [RCV000180342] ChrX:40063744 [GRCh38]
ChrX:39922997 [GRCh37]
ChrX:Xp11.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.519C>T (p.Ser173=) single nucleotide variant not specified [RCV000192690] ChrX:40074827 [GRCh38]
ChrX:39934080 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) single nucleotide variant History of neurodevelopmental disorder [RCV000721076]|Oculofaciocardiodental syndrome [RCV000640959]|not specified [RCV000192752] ChrX:40074938 [GRCh38]
ChrX:39934191 [GRCh37]
ChrX:Xp11.4
benign|likely benign|uncertain significance
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) single nucleotide variant Lenz microphthalmia syndrome [RCV000625946]|Oculofaciocardiodental syndrome [RCV000640962]|not specified [RCV000193574] ChrX:40073311 [GRCh38]
ChrX:39932564 [GRCh37]
ChrX:Xp11.4
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala) single nucleotide variant not specified [RCV000193700] ChrX:40064533 [GRCh38]
ChrX:39923786 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) single nucleotide variant not provided [RCV000726646]|not specified [RCV000193769] ChrX:40062247 [GRCh38]
ChrX:39921500 [GRCh37]
ChrX:Xp11.4
conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.874G>T (p.Gly292Cys) single nucleotide variant not specified [RCV000194087] ChrX:40074472 [GRCh38]
ChrX:39933725 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000458663]|not specified [RCV000194233] ChrX:40073147 [GRCh38]
ChrX:39932400 [GRCh37]
ChrX:Xp11.4
benign|uncertain significance
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=) single nucleotide variant not provided [RCV000862755]|not specified [RCV000194671] ChrX:40057262 [GRCh38]
ChrX:39916515 [GRCh37]
ChrX:Xp11.4
benign|uncertain significance
NM_001123385.2(BCOR):c.4111C>T (p.Gln1371Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV000198068] ChrX:40062808 [GRCh38]
ChrX:39922061 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV000544346] ChrX:40073566 [GRCh38]
ChrX:39932819 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV000548507] ChrX:40062969 [GRCh38]
ChrX:39922222 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001123385.2(BCOR):c.1136_1139del (p.Val379fs) deletion Congenital cataract [RCV000203315] ChrX:40074207..40074210 [GRCh38]
ChrX:39933460..39933463 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.4390_4393del (p.Glu1464fs) deletion Congenital cataract [RCV000203367] ChrX:40062174..40062177 [GRCh38]
ChrX:39921427..39921430 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_017745.5(BCOR):c.-292-?_*863+?dup duplication Oculofaciocardiodental syndrome [RCV000231561]   uncertain significance
NM_001123385.2(BCOR):c.4936dup (p.Leu1646fs) duplication not provided [RCV000346544] ChrX:40053925..40053926 [GRCh38]
ChrX:39913178..39913179 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.3847+7G>C single nucleotide variant Oculofaciocardiodental syndrome [RCV000226184] ChrX:40063601 [GRCh38]
ChrX:39922854 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.978G>A (p.Pro326=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000866101]|not specified [RCV000247129] ChrX:40074368 [GRCh38]
ChrX:39933621 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.2008C>T (p.Pro670Ser) single nucleotide variant not provided [RCV000726245] ChrX:40073338 [GRCh38]
ChrX:39932591 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.1084G>A (p.Ala362Thr) single nucleotide variant not provided [RCV000766547]|not specified [RCV000274732] ChrX:40074262 [GRCh38]
ChrX:39933515 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3847+7G>A single nucleotide variant Oculofaciocardiodental syndrome [RCV001078993]|not provided [RCV000383343] ChrX:40063601 [GRCh38]
ChrX:39922854 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.1214C>T (p.Pro405Leu) single nucleotide variant not provided [RCV000351822] ChrX:40074132 [GRCh38]
ChrX:39933385 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2525T>C (p.Val842Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV001089070]|not provided [RCV000324033] ChrX:40072821 [GRCh38]
ChrX:39932074 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.3881_3882AG[1] (p.Leu1296fs) microsatellite Glioblastoma [RCV000505675]|not provided [RCV000400462] ChrX:40063035..40063036 [GRCh38]
ChrX:39922288..39922289 [GRCh37]
ChrX:Xp11.4
pathogenic|other
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn) single nucleotide variant not provided [RCV000261996] ChrX:40062309 [GRCh38]
ChrX:39921562 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3108dup (p.Ala1037fs) duplication not provided [RCV000259523] ChrX:40071102..40071103 [GRCh38]
ChrX:39930355..39930356 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.3392G>T (p.Arg1131Leu) single nucleotide variant not provided [RCV000488027] ChrX:40064446 [GRCh38]
ChrX:39923699 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001123385.2(BCOR):c.3649C>T (p.Arg1217Ter) single nucleotide variant BCOR-related disorders [RCV001270855] ChrX:40063806 [GRCh38]
ChrX:39923059 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter) single nucleotide variant Inborn genetic diseases [RCV000623957]|not provided [RCV001268351] ChrX:40072918 [GRCh38]
ChrX:39932171 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.524_527del (p.Lys175fs) deletion not provided [RCV000627639] ChrX:40074819..40074822 [GRCh38]
ChrX:39934072..39934075 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.3267_3270dup (p.Pro1091Ter) duplication not provided [RCV000592512] ChrX:40064567..40064568 [GRCh38]
ChrX:39923820..39923821 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.2633T>C (p.Val878Ala) single nucleotide variant not provided [RCV000640963] ChrX:40072713 [GRCh38]
ChrX:39931966 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001087001]|not provided [RCV000592952] ChrX:40074999 [GRCh38]
ChrX:39934252 [GRCh37]
ChrX:Xp11.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs) insertion Adenoid cystic carcinoma [RCV000585787] ChrX:40074947..40074948 [GRCh38]
ChrX:39934200..39934201 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs) deletion Adenoid cystic carcinoma [RCV000585738] ChrX:40054273..40054288 [GRCh38]
ChrX:39913526..39913541 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001123385.2(BCOR):c.4443C>T (p.Tyr1481=) single nucleotide variant not provided [RCV000593865] ChrX:40057307 [GRCh38]
ChrX:39916560 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4807A>C (p.Ser1603Arg) single nucleotide variant not provided [RCV000656236] ChrX:40054268 [GRCh38]
ChrX:39913521 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001123385.2(BCOR):c.432_433insGGTG (p.Phe145fs) insertion not provided [RCV000722558] ChrX:40074913..40074914 [GRCh38]
ChrX:39934166..39934167 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.1293C>G (p.Thr431=) single nucleotide variant not provided [RCV000729938] ChrX:40074053 [GRCh38]
ChrX:39933306 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3956C>T (p.Ala1319Val) single nucleotide variant not provided [RCV000733147] ChrX:40062963 [GRCh38]
ChrX:39922216 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.1(BCOR):c.(3502+1_3503-1)_(4173+1_4174-1)del deletion Congenital cataract [RCV000416292] ChrX:Xp11.4 likely pathogenic
NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs) duplication Oculofaciocardiodental syndrome [RCV000528148] ChrX:40064449..40064450 [GRCh38]
ChrX:39923702..39923703 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser) inversion Oculofaciocardiodental syndrome [RCV000531720] ChrX:40074085..40074086 [GRCh38]
ChrX:39933338..39933339 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs) deletion Oculofaciocardiodental syndrome [RCV000538294] ChrX:40064427..40064428 [GRCh38]
ChrX:39923680..39923681 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000539211] ChrX:40054038 [GRCh38]
ChrX:39913291 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr) single nucleotide variant Abnormality of brain morphology [RCV000454264] ChrX:40062275 [GRCh38]
ChrX:39921528 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640953]|not provided [RCV000442737] ChrX:40073143 [GRCh38]
ChrX:39932396 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_001123385.2(BCOR):c.1880A>G (p.Lys627Arg) single nucleotide variant not provided [RCV000438870] ChrX:40073466 [GRCh38]
ChrX:39932719 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs) deletion Oculofaciocardiodental syndrome [RCV000505235] ChrX:40064570 [GRCh38]
ChrX:39923823 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.2978G>A (p.Arg993Gln) single nucleotide variant not provided [RCV000435637] ChrX:40072368 [GRCh38]
ChrX:39931621 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_001123385.2(BCOR):c.3941C>A (p.Ala1314Asp) single nucleotide variant not provided [RCV000440434] ChrX:40062978 [GRCh38]
ChrX:39922231 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.5174A>C (p.Asp1725Ala) single nucleotide variant not provided [RCV000430348] ChrX:40052203 [GRCh38]
ChrX:39911456 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.932_934AGC[1] (p.Gln312del) microsatellite not specified [RCV000479379] ChrX:40074409..40074411 [GRCh38]
ChrX:39933662..39933664 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile) single nucleotide variant Inborn genetic diseases [RCV000623285]|Oculofaciocardiodental syndrome [RCV000475420] ChrX:40072699 [GRCh38]
ChrX:39931952 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_001123385.2(BCOR):c.2519C>T (p.Pro840Leu) single nucleotide variant not provided [RCV000481232] ChrX:40072827 [GRCh38]
ChrX:39932080 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_40057155)_(40077969_?)del deletion Oculofaciocardiodental syndrome [RCV000472529] ChrX:40057155..40077969 [GRCh38]
ChrX:39916408..39937222 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.4202C>T (p.Pro1401Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001197726]|not provided [RCV000482392] ChrX:40062365 [GRCh38]
ChrX:39921618 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.678dup (p.Tyr227fs) duplication not provided [RCV000486175] ChrX:40074667..40074668 [GRCh38]
ChrX:39933920..39933921 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.4053C>T (p.Thr1351=) single nucleotide variant not specified [RCV000501373] ChrX:40062866 [GRCh38]
ChrX:39922119 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3486C>T (p.Arg1162=) single nucleotide variant not specified [RCV000503784] ChrX:40064352 [GRCh38]
ChrX:39923605 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.850G>A (p.Asp284Asn) single nucleotide variant not specified [RCV000504056] ChrX:40074496 [GRCh38]
ChrX:39933749 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640957]|not specified [RCV000500235] ChrX:40055429 [GRCh38]
ChrX:39914682 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_001123385.2(BCOR):c.1544G>A (p.Ser515Asn) single nucleotide variant not specified [RCV000500422] ChrX:40073802 [GRCh38]
ChrX:39933055 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001123385.2(BCOR):c.3644_3645GA[1] (p.Glu1216fs) microsatellite not provided [RCV000493811] ChrX:40063808..40063809 [GRCh38]
ChrX:39923061..39923062 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
NM_001123385.2(BCOR):c.1024C>T (p.Arg342Ter) single nucleotide variant not provided [RCV000494521] ChrX:40074322 [GRCh38]
ChrX:39933575 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001123385.2(BCOR):c.3568G>A (p.Glu1190Lys) single nucleotide variant not provided [RCV000523479] ChrX:40063887 [GRCh38]
ChrX:39923140 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4972C>T (p.Gln1658Ter) single nucleotide variant Inborn genetic diseases [RCV000624098] ChrX:40053890 [GRCh38]
ChrX:39913143 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.5134G>A (p.Asp1712Asn) single nucleotide variant Inborn genetic diseases [RCV000622518] ChrX:40052243 [GRCh38]
ChrX:39911496 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala) single nucleotide variant Congenital cerebellar hypoplasia [RCV000626754] ChrX:40055416 [GRCh38]
ChrX:39914669 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Mental retardation, X-linked, syndromic, Hedera type [RCV000640920] ChrX:39911342..41782261 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2484_2485AG[2] (p.Ser830fs) microsatellite Oculofaciocardiodental syndrome [RCV000011663]|not provided [RCV000524073] ChrX:40072857..40072858 [GRCh38]
ChrX:39932110..39932111 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.574G>C (p.Val192Leu) single nucleotide variant Inborn genetic diseases [RCV000624074] ChrX:40074772 [GRCh38]
ChrX:39934025 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640952] ChrX:40074114 [GRCh38]
ChrX:39933367 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.479T>C (p.Val160Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640954] ChrX:40074867 [GRCh38]
ChrX:39934120 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.453A>G (p.Thr151=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640956] ChrX:40074893 [GRCh38]
ChrX:39934146 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) deletion Oculofaciocardiodental syndrome [RCV000625829] ChrX:40064393..40064401 [GRCh38]
ChrX:39923646..39923654 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640955] ChrX:40064499 [GRCh38]
ChrX:39923752 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3491G>A (p.Arg1164Gln) single nucleotide variant Oculofaciocardiodental syndrome [RCV000640961] ChrX:40064347 [GRCh38]
ChrX:39923600 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter) single nucleotide variant Adenoid cystic carcinoma [RCV000585769] ChrX:40062856 [GRCh38]
ChrX:39922109 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001123385.2(BCOR):c.2991A>G (p.Ala997=) single nucleotide variant not provided [RCV000513505] ChrX:40072355 [GRCh38]
ChrX:39931608 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3193G>A (p.Val1065Ile) single nucleotide variant not provided [RCV000658104] ChrX:40071018 [GRCh38]
ChrX:39930271 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:39645568-40132052)x3 copy number gain not provided [RCV000659245] ChrX:39645568..40132052 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.1391C>T (p.Thr464Met) single nucleotide variant Oculofaciocardiodental syndrome [RCV000698761] ChrX:40073955 [GRCh38]
ChrX:39933208 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) single nucleotide variant Oculofaciocardiodental syndrome [RCV000689973] ChrX:40072786 [GRCh38]
ChrX:39932039 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.599C>T (p.Thr200Met) single nucleotide variant Oculofaciocardiodental syndrome [RCV000706400] ChrX:40074747 [GRCh38]
ChrX:39934000 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV000703079] ChrX:40062248 [GRCh38]
ChrX:39921501 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.223A>T (p.Thr75Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV000705609] ChrX:40075123 [GRCh38]
ChrX:39934376 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_001123385.2(BCOR):c.520G>A (p.Asp174Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV000703333] ChrX:40074826 [GRCh38]
ChrX:39934079 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000721089] ChrX:40064533 [GRCh38]
ChrX:39923786 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001123385.2(BCOR):c.780C>T (p.Ser260=) single nucleotide variant History of neurodevelopmental disorder [RCV000720950]|not provided [RCV000863692] ChrX:40074566 [GRCh38]
ChrX:39933819 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_001123385.2(BCOR):c.2305del (p.Glu769fs) deletion not provided [RCV000722973] ChrX:40073041 [GRCh38]
ChrX:39932294 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:39952515-40238078)x1 copy number loss not provided [RCV000753518] ChrX:39952515..40238078 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001123385.2(BCOR):c.3533G>A (p.Ser1178Asn) single nucleotide variant not specified [RCV000736069] ChrX:40063922 [GRCh38]
ChrX:39923175 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.1287G>A (p.Lys429=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000861460] ChrX:40074059 [GRCh38]
ChrX:39933312 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.4080G>A (p.Lys1360=) single nucleotide variant not provided [RCV000917524] ChrX:40062839 [GRCh38]
ChrX:39922092 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.1680A>G (p.Ser560=) single nucleotide variant not provided [RCV000939769] ChrX:40073666 [GRCh38]
ChrX:39932919 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3378C>T (p.His1126=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000861229] ChrX:40064460 [GRCh38]
ChrX:39923713 [GRCh37]
ChrX:Xp11.4
benign
NC_000023.11:g.(?_40052108)_(40077930_?)del deletion Oculofaciocardiodental syndrome [RCV000761259] ChrX:40052108..40077930 [GRCh38]
ChrX:Xp11.4
likely pathogenic
NM_001123385.2(BCOR):c.3079G>T (p.Glu1027Ter) single nucleotide variant not provided [RCV000760675] ChrX:40071132 [GRCh38]
ChrX:39930385 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001123385.2(BCOR):c.3238T>C (p.Cys1080Arg) single nucleotide variant not provided [RCV000999397] ChrX:40070973 [GRCh38]
ChrX:39930226 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV000869851] ChrX:40053931 [GRCh38]
ChrX:39913184 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.285A>G (p.Gly95=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000865207] ChrX:40075061 [GRCh38]
ChrX:39934314 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.2598C>T (p.His866=) single nucleotide variant not provided [RCV000869387] ChrX:40072748 [GRCh38]
ChrX:39932001 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4305A>G (p.Pro1435=) single nucleotide variant not provided [RCV000863547] ChrX:40062262 [GRCh38]
ChrX:39921515 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2650C>T (p.Leu884=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000975891] ChrX:40072696 [GRCh38]
ChrX:39931949 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.946C>T (p.Pro316Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV000864919] ChrX:40074400 [GRCh38]
ChrX:39933653 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.696G>A (p.Pro232=) single nucleotide variant not provided [RCV000946342] ChrX:40074650 [GRCh38]
ChrX:39933903 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu) single nucleotide variant not provided [RCV000870784] ChrX:40053902 [GRCh38]
ChrX:39913155 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.1221C>T (p.Pro407=) single nucleotide variant not provided [RCV000867554] ChrX:40074125 [GRCh38]
ChrX:39933378 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.5001G>A (p.Ser1667=) single nucleotide variant not provided [RCV000865338] ChrX:40052376 [GRCh38]
ChrX:39911629 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2916C>T (p.Tyr972=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000863240] ChrX:40072430 [GRCh38]
ChrX:39931683 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.1645G>A (p.Gly549Ser) single nucleotide variant not provided [RCV000867842] ChrX:40073701 [GRCh38]
ChrX:39932954 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2343C>T (p.Thr781=) single nucleotide variant not provided [RCV000923582] ChrX:40073003 [GRCh38]
ChrX:39932256 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.759C>T (p.Val253=) single nucleotide variant not provided [RCV000867233] ChrX:40074587 [GRCh38]
ChrX:39933840 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.975G>T (p.Leu325=) single nucleotide variant not provided [RCV000945677] ChrX:40074371 [GRCh38]
ChrX:39933624 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4188A>G (p.Arg1396=) single nucleotide variant not provided [RCV000927208] ChrX:40062379 [GRCh38]
ChrX:39921632 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.717C>T (p.Thr239=) single nucleotide variant not provided [RCV000949184] ChrX:40074629 [GRCh38]
ChrX:39933882 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3951G>A (p.Pro1317=) single nucleotide variant not provided [RCV000876980] ChrX:40062968 [GRCh38]
ChrX:39922221 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.4620C>T (p.Asn1540=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000882160] ChrX:40055489 [GRCh38]
ChrX:39914742 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2032C>T (p.Pro678Ser) single nucleotide variant not provided [RCV000866050] ChrX:40073314 [GRCh38]
ChrX:39932567 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2213C>T (p.Thr738Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV001067419] ChrX:40073133 [GRCh38]
ChrX:39932386 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_001123385.2(BCOR):c.863C>T (p.Pro288Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001065626] ChrX:40074483 [GRCh38]
ChrX:39933736 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln) single nucleotide variant not specified [RCV000779834] ChrX:40064498 [GRCh38]
ChrX:39923751 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4523G>C (p.Gly1508Ala) single nucleotide variant not specified [RCV000785143] ChrX:40057227 [GRCh38]
ChrX:39916480 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001123385.2(BCOR):c.2148C>T (p.Tyr716=) single nucleotide variant not provided [RCV000863907] ChrX:40073198 [GRCh38]
ChrX:39932451 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.447C>T (p.Tyr149=) single nucleotide variant not provided [RCV000978491] ChrX:40074899 [GRCh38]
ChrX:39934152 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.4413C>G (p.Ala1471=) single nucleotide variant not provided [RCV000918058] ChrX:40062154 [GRCh38]
ChrX:39921407 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.906C>T (p.His302=) single nucleotide variant not provided [RCV000863960] ChrX:40074440 [GRCh38]
ChrX:39933693 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4902C>T (p.Ser1634=) single nucleotide variant not provided [RCV000881460] ChrX:40053960 [GRCh38]
ChrX:39913213 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3831C>T (p.Pro1277=) single nucleotide variant not provided [RCV000931062] ChrX:40063624 [GRCh38]
ChrX:39922877 [GRCh37]
ChrX:Xp11.4
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV000863169] ChrX:40073058 [GRCh38]
ChrX:39932311 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) single nucleotide variant not provided [RCV000938240] ChrX:40072923 [GRCh38]
ChrX:39932176 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.1620G>A (p.Arg540=) single nucleotide variant not provided [RCV000863915] ChrX:40073726 [GRCh38]
ChrX:39932979 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.1669G>A (p.Val557Ile) single nucleotide variant not provided [RCV000863273] ChrX:40073677 [GRCh38]
ChrX:39932930 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4779C>T (p.Asp1593=) single nucleotide variant not provided [RCV000869388] ChrX:40054296 [GRCh38]
ChrX:39913549 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4062C>T (p.Ser1354=) single nucleotide variant not provided [RCV000876865] ChrX:40062857 [GRCh38]
ChrX:39922110 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.864G>A (p.Pro288=) single nucleotide variant not provided [RCV000872572] ChrX:40074482 [GRCh38]
ChrX:39933735 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.2409T>A (p.Leu803=) single nucleotide variant not provided [RCV000909923] ChrX:40072937 [GRCh38]
ChrX:39932190 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.1154C>T (p.Ala385Val) single nucleotide variant not provided [RCV000862662] ChrX:40074192 [GRCh38]
ChrX:39933445 [GRCh37]
ChrX:Xp11.4
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001123385.2(BCOR):c.2424T>C (p.Leu808=) single nucleotide variant not provided [RCV000938239] ChrX:40072922 [GRCh38]
ChrX:39932175 [GRCh37]
ChrX:Xp11.4
benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp) single nucleotide variant Oculofaciocardiodental syndrome [RCV000823799] ChrX:40073623 [GRCh38]
ChrX:39932876 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_40052089)_(40077949_?)del deletion Oculofaciocardiodental syndrome [RCV000797485] ChrX:40052089..40077949 [GRCh38]
ChrX:39911342..39937202 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.3366G>A (p.Ser1122=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000871041] ChrX:40064472 [GRCh38]
ChrX:39923725 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.3502+127G>T single nucleotide variant not provided [RCV000833507] ChrX:40064209 [GRCh38]
ChrX:39923462 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.3503-158C>A single nucleotide variant not provided [RCV000833509] ChrX:40064110 [GRCh38]
ChrX:39923363 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4173+139G>T single nucleotide variant not provided [RCV000833510] ChrX:40062607 [GRCh38]
ChrX:39921860 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4741+317T>C single nucleotide variant not provided [RCV000833511] ChrX:40055051 [GRCh38]
ChrX:39914304 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.1575G>A (p.Met525Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV000809646] ChrX:40073771 [GRCh38]
ChrX:39933024 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV000811990] ChrX:40052396 [GRCh38]
ChrX:39911649 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs) deletion Oculofaciocardiodental syndrome [RCV000813882] ChrX:40072487..40072488 [GRCh38]
ChrX:39931740..39931741 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.166-55G>A single nucleotide variant not provided [RCV000836648] ChrX:40075235 [GRCh38]
ChrX:39934488 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.3467del (p.Pro1156fs) deletion Oculofaciocardiodental syndrome [RCV000795508] ChrX:40064371 [GRCh38]
ChrX:39923624 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV000862354] ChrX:40074864 [GRCh38]
ChrX:39934117 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.3463del (p.Asp1155fs) deletion Oculofaciocardiodental syndrome [RCV000798862] ChrX:40064375 [GRCh38]
ChrX:39923628 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000798941] ChrX:40072826 [GRCh38]
ChrX:39932079 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2877A>G (p.Pro959=) single nucleotide variant not provided [RCV000876603] ChrX:40072469 [GRCh38]
ChrX:39931722 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs) duplication Oculofaciocardiodental syndrome [RCV000791881] ChrX:40064593..40064594 [GRCh38]
ChrX:39923846..39923847 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.300A>G (p.Lys100=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000964677] ChrX:40075046 [GRCh38]
ChrX:39934299 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.4890C>T (p.Asp1630=) single nucleotide variant not provided [RCV000863759] ChrX:40053972 [GRCh38]
ChrX:39913225 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr) single nucleotide variant Oculofaciocardiodental syndrome [RCV000980478] ChrX:40073638 [GRCh38]
ChrX:39932891 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.1257A>G (p.Lys419=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000862854] ChrX:40074089 [GRCh38]
ChrX:39933342 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.2295C>T (p.Ser765=) single nucleotide variant not provided [RCV000861951] ChrX:40073051 [GRCh38]
ChrX:39932304 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.5190G>A (p.Thr1730=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000862263] ChrX:40052187 [GRCh38]
ChrX:39911440 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV000821081] ChrX:40062906 [GRCh38]
ChrX:39922159 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3261G>T (p.Lys1087Asn) single nucleotide variant Intellectual disability [RCV001251682] ChrX:40064577 [GRCh38]
ChrX:39923830 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3 copy number gain not provided [RCV000845673] ChrX:38056276..40565244 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV001060410] ChrX:40064371 [GRCh38]
ChrX:39923624 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.779C>G (p.Ser260Cys) single nucleotide variant Oculofaciocardiodental syndrome [RCV001215827] ChrX:40074567 [GRCh38]
ChrX:39933820 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4540C>T (p.Arg1514Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV001231737] ChrX:40057210 [GRCh38]
ChrX:39916463 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.4711del (p.His1571fs) deletion Oculofaciocardiodental syndrome [RCV001227225] ChrX:40055398 [GRCh38]
ChrX:39914651 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.3487C>T (p.Arg1163Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV001226724] ChrX:40064351 [GRCh38]
ChrX:39923604 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.2014T>G (p.Ser672Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV001229259] ChrX:40073332 [GRCh38]
ChrX:39932585 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:39911362-39937182)x1 copy number loss not provided [RCV000996088] ChrX:39911362..39937182 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001123385.2(BCOR):c.1024del (p.Arg342fs) deletion not provided [RCV001093487] ChrX:40074322 [GRCh38]
ChrX:39933575 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.4903G>A (p.Asp1635Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV001198283] ChrX:40053959 [GRCh38]
ChrX:39913212 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2124C>T (p.Thr708=) single nucleotide variant not provided [RCV000861370] ChrX:40073222 [GRCh38]
ChrX:39932475 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4599T>C (p.Pro1533=) single nucleotide variant not provided [RCV000876820] ChrX:40055510 [GRCh38]
ChrX:39914763 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3669G>A (p.Ser1223=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000862123] ChrX:40063786 [GRCh38]
ChrX:39923039 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.3138C>T (p.Phe1046=) single nucleotide variant not provided [RCV000923131] ChrX:40071073 [GRCh38]
ChrX:39930326 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4203G>A (p.Pro1401=) single nucleotide variant not provided [RCV000866906] ChrX:40062364 [GRCh38]
ChrX:39921617 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.4383C>T (p.Asn1461=) single nucleotide variant not provided [RCV000863575] ChrX:40062184 [GRCh38]
ChrX:39921437 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.5193C>T (p.Asn1731=) single nucleotide variant not provided [RCV000867691] ChrX:40052184 [GRCh38]
ChrX:39911437 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.1902A>G (p.Pro634=) single nucleotide variant Oculofaciocardiodental syndrome [RCV000981546] ChrX:40073444 [GRCh38]
ChrX:39932697 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) single nucleotide variant Intellectual disability [RCV001251681]|Oculofaciocardiodental syndrome [RCV000864747] ChrX:40070985 [GRCh38]
ChrX:39930238 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_001123385.2(BCOR):c.2631C>T (p.Thr877=) single nucleotide variant not provided [RCV000868362] ChrX:40072715 [GRCh38]
ChrX:39931968 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.2514del (p.Lys839fs) deletion Oculofaciocardiodental syndrome [RCV001056985] ChrX:40072832 [GRCh38]
ChrX:39932085 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.4679C>T (p.Thr1560Met) single nucleotide variant Oculofaciocardiodental syndrome [RCV001227904] ChrX:40055430 [GRCh38]
ChrX:39914683 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.651G>A (p.Met217Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV001198252] ChrX:40074695 [GRCh38]
ChrX:39933948 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3417A>C (p.Ser1139=) single nucleotide variant not provided [RCV000913556] ChrX:40064421 [GRCh38]
ChrX:39923674 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.3848-10C>T single nucleotide variant not provided [RCV000934850] ChrX:40063081 [GRCh38]
ChrX:39922334 [GRCh37]
ChrX:Xp11.4
benign
NM_001123385.2(BCOR):c.1601G>C (p.Trp534Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV001057456] ChrX:40073745 [GRCh38]
ChrX:39932998 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.982del (p.Asp328fs) deletion Oculofaciocardiodental syndrome [RCV001054846] ChrX:40074364 [GRCh38]
ChrX:39933617 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NM_001123385.2(BCOR):c.786_790dup (p.Pro264fs) duplication Oculofaciocardiodental syndrome [RCV001064433] ChrX:40074555..40074556 [GRCh38]
ChrX:39933808..39933809 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.724G>A (p.Glu242Lys) single nucleotide variant Oculofaciocardiodental syndrome [RCV001064998] ChrX:40074622 [GRCh38]
ChrX:39933875 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3871C>T (p.Pro1291Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV001196611] ChrX:40063048 [GRCh38]
ChrX:39922301 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.938C>T (p.Pro313Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001245882] ChrX:40074408 [GRCh38]
ChrX:39933661 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2449del (p.Thr817fs) deletion Oculofaciocardiodental syndrome [RCV001027990] ChrX:40072897 [GRCh38]
ChrX:39932150 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NC_000023.11:g.(?_40070953)_(40077949_?)dup duplication Oculofaciocardiodental syndrome [RCV001033837] ChrX:39930206..39937202 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV001204867] ChrX:40077893 [GRCh38]
ChrX:39937146 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3500A>G (p.Lys1167Arg) single nucleotide variant Intellectual disability [RCV001251683] ChrX:40064338 [GRCh38]
ChrX:39923591 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001123385.2(BCOR):c.1696C>T (p.Arg566Cys) single nucleotide variant Oculofaciocardiodental syndrome [RCV001253540] ChrX:40073650 [GRCh38]
ChrX:39932903 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3490C>T (p.Arg1164Ter) single nucleotide variant not provided [RCV001254808] ChrX:40064348 [GRCh38]
ChrX:39923601 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His) single nucleotide variant Oculofaciocardiodental syndrome [RCV001253398] ChrX:40052335 [GRCh38]
ChrX:39911588 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.2572G>T (p.Glu858Ter) single nucleotide variant sellar metastasis from primary bronchial carcinoid tumor [RCV001251069] ChrX:40072774 [GRCh38]
ChrX:39932027 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:39349074-40119639)x2 copy number gain not provided [RCV001258956] ChrX:39349074..40119639 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2266G>A (p.Glu756Lys) single nucleotide variant Intellectual disability [RCV001256145] ChrX:40073080 [GRCh38]
ChrX:39932333 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.4596-1G>A single nucleotide variant not provided [RCV001268803] ChrX:40055514 [GRCh38]
ChrX:39914767 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001123385.2(BCOR):c.1039_1040del (p.Thr347fs) deletion not provided [RCV001281597] ChrX:40074306..40074307 [GRCh38]
ChrX:39933559..39933560 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001123385.2(BCOR):c.937C>A (p.Pro313Thr) single nucleotide variant Oculofaciocardiodental syndrome [RCV001321902] ChrX:40074409 [GRCh38]
ChrX:39933662 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.2664C>A (p.Asn888Lys) single nucleotide variant Oculofaciocardiodental syndrome [RCV001344770] ChrX:40072682 [GRCh38]
ChrX:39931935 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.(?_39911356)_(40465012_?)dup duplication Oculofaciocardiodental syndrome [RCV001352276] ChrX:39911356..40465012 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001123385.2(BCOR):c.3092G>A (p.Arg1031Lys) single nucleotide variant Oculofaciocardiodental syndrome [RCV001295225] ChrX:40071119 [GRCh38]
ChrX:39930372 [GRCh37]
ChrX:Xp11.4
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20893 AgrOrtholog
COSMIC BCOR COSMIC
Ensembl Genes ENSG00000183337 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000345923 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367705 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367716 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380512 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384485 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000387552 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000390273 UniProtKB/TrEMBL
  ENSP00000403823 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000408006 UniProtKB/TrEMBL
  ENSP00000483217 UniProtKB/TrEMBL
  ENSP00000499892 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500446 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342274 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378444 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378455 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397354 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406200 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000412952 UniProtKB/TrEMBL
  ENST00000413905 UniProtKB/TrEMBL
  ENST00000427012 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000442018 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000615339 UniProtKB/TrEMBL
  ENST00000672922 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000673391 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.260.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183337 GTEx
HGNC ID HGNC:20893 ENTREZGENE
Human Proteome Map BCOR Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUFD_som_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54880 UniProtKB/Swiss-Prot
NCBI Gene 54880 ENTREZGENE
OMIM 300166 OMIM
  300485 OMIM
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134921737 PharmGKB
PRINTS ANKYRIN UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZGX7_HUMAN UniProtKB/TrEMBL
  A1A564_HUMAN UniProtKB/TrEMBL
  BCOR_HUMAN UniProtKB/Swiss-Prot
  C9JHP3_HUMAN UniProtKB/TrEMBL
  H7BYY2_HUMAN UniProtKB/TrEMBL
  H7BZ37_HUMAN UniProtKB/TrEMBL
  H7C231_HUMAN UniProtKB/TrEMBL
  H7C2V9_HUMAN UniProtKB/TrEMBL
  Q6W2J9 ENTREZGENE
UniProt Secondary D3DWB3 UniProtKB/Swiss-Prot
  D3DWB4 UniProtKB/Swiss-Prot
  Q29RF6 UniProtKB/Swiss-Prot
  Q6P4B6 UniProtKB/Swiss-Prot
  Q7Z2K7 UniProtKB/Swiss-Prot
  Q8TEB4 UniProtKB/Swiss-Prot
  Q96DB3 UniProtKB/Swiss-Prot
  Q9H232 UniProtKB/Swiss-Prot
  Q9H233 UniProtKB/Swiss-Prot
  Q9HCJ7 UniProtKB/Swiss-Prot
  Q9NXF2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-17 BCOR  BCL6 corepressor  BCOR  BCL6 corepressor  Symbol and/or name change 5135510 APPROVED
2011-07-27 BCOR  BCL6 corepressor  BCOR  BCL6 co-repressor  Symbol and/or name change 5135510 APPROVED