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:20893
Description: Enables 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 negative regulation of biomineral tissue development; negative regulation of transcription by RNA polymerase II; and specification of axis polarity. Located in nucleoplasm. Part of BCOR complex. Implicated in dental caries; eye disease (multiple); and gastrointestinal system cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
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
GRCh38X40,051,246 - 40,177,329 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX40,049,815 - 40,177,329 (-)Ensemblhg38GRCh38
GRCh37X39,910,499 - 40,036,582 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X39,795,561 - 39,846,998 (-)NCBIBuild 36Build 36hg18NCBI36
CeleraX44,049,354 - 44,175,356 (-)NCBICelera
Cytogenetic MapXp11.4NCBI
HuRefX37,648,006 - 37,771,447 (-)NCBIHuRef
CHM1_1X39,942,309 - 40,068,287 (-)NCBICHM1_1
T2T-CHM13v2.0X39,452,491 - 39,578,567 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
choline  (ISO)
cisplatin  (EXP)
coumarin  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
geldanamycin  (EXP)
gentamycin  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methotrexate  (ISO)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nitrates  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vanadyl sulfate  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
BCOR complex  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

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 bleeding  (IAGP)
Abnormal brain morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal palmar dermatoglyphics  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal shoulder morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of the dentition  (IAGP)
Acute myeloid leukemia  (IAGP)
Addictive alcohol use  (IAGP)
Adrenal insufficiency  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of maxillary lateral incisor  (IAGP)
Aggressive behavior  (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)
Autism  (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 palate  (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)
Decreased total leukocyte count  (IAGP)
Decreased total neutrophil count  (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)
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 total leukocyte count  (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)
Long face  (IAGP)
Long philtrum  (IAGP)
Long thorax  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lymphadenopathy  (IAGP)
Metrorrhagia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Narrow chest  (IAGP)
Narrow face  (IAGP)
Nystagmus  (IAGP)
Oligodontia  (IAGP)
Optic disc coloboma  (IAGP)
Oral cavity bleeding  (IAGP)
Orofacial 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)
Purpura  (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)
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)
Solitary median maxillary central incisor  (IAGP)
Spastic diplegia  (IAGP)
Spastic paraparesis  (IAGP)
Stomatitis  (IAGP)
Submucous cleft hard palate  (IAGP)
Supernumerary tooth  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Thick eyebrow  (IAGP)
Thrombocytopenia  (IAGP)
Tooth malposition  (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

References - curated
# Reference Title Reference Citation
1. Genome-wide analysis of DNA methylation in subjects with type 1 diabetes identifies epigenetic modifications associated with proliferative diabetic retinopathy. Agardh E, etal., BMC Med. 2015 Aug 6;13:182. doi: 10.1186/s12916-015-0421-5.
2. Inhibition of the transcriptional repressor complex Bcl-6/BCoR induces endothelial sprouting but does not promote tumor growth. Buchberger E, etal., Oncotarget. 2017 Jan 3;8(1):552-564. doi: 10.18632/oncotarget.13477.
3. Identification of molecular features correlating with tumor immunity in gastric cancer by multi-omics data analysis. He Y and Wang X, Ann Transl Med. 2020 Sep;8(17):1050. doi: 10.21037/atm-20-922.
4. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Ng D, etal., Nat Genet. 2004 Apr;36(4):411-6. Epub 2004 Mar 7.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Comprehensive mutation profiling of mucinous gastric carcinoma. Rokutan H, etal., J Pathol. 2016 Oct;240(2):137-48. doi: 10.1002/path.4761. Epub 2016 Sep 19.
10. Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. Zeng Z, etal., J Dent Res. 2013 May;92(5):432-7. doi: 10.1177/0022034513481976. Epub 2013 Mar 7.
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:19491398   PMID:19578371   PMID:20301552   PMID:20301694  
PMID:20431927   PMID:20807888   PMID:20854876   PMID:21873635   PMID:22012066   PMID:22301464   PMID:22325352   PMID:22387997   PMID:23074094   PMID:23260655   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:26912792   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:31182584   PMID:31422590   PMID:31527615   PMID:31624251   PMID:31647130   PMID:31678930   PMID:31753913   PMID:31876361   PMID:31925334   PMID:32011345   PMID:32156473  
PMID:32344865   PMID:32493417   PMID:32594217   PMID:32628469   PMID:32748437   PMID:32776737   PMID:32790583   PMID:32840647   PMID:32908313   PMID:33283733   PMID:33468080   PMID:33503405  
PMID:33630701   PMID:33640491   PMID:33722704   PMID:33862015   PMID:33916271   PMID:33920124   PMID:33945606   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34103053   PMID:34189442  
PMID:34260512   PMID:34313322   PMID:34325058   PMID:34333045   PMID:34673711   PMID:34709266   PMID:34795231   PMID:34887247   PMID:34957890   PMID:35015684   PMID:35016035   PMID:35140242  
PMID:35198878   PMID:35271311   PMID:35439318   PMID:35499168   PMID:35509820   PMID:35512704   PMID:35537005   PMID:35559673   PMID:35785414   PMID:35809497   PMID:35836306   PMID:35973513  
PMID:35987950   PMID:36089195   PMID:36243803   PMID:36279688   PMID:36314054   PMID:36373674   PMID:36563883   PMID:36731037   PMID:36791667   PMID:36853789   PMID:37059091   PMID:37689310  
PMID:37788672   PMID:37827155   PMID:38280479   PMID:38297188   PMID:38334954   PMID:38360978   PMID:38580884   PMID:38637838   PMID:38656651   PMID:38986614   PMID:39062853   PMID:39438869  
PMID:39617063   PMID:40437099  


Genomics

Comparative Map Data
BCOR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X40,051,246 - 40,177,329 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX40,049,815 - 40,177,329 (-)Ensemblhg38GRCh38
GRCh37X39,910,499 - 40,036,582 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X39,795,561 - 39,846,998 (-)NCBIBuild 36Build 36hg18NCBI36
CeleraX44,049,354 - 44,175,356 (-)NCBICelera
Cytogenetic MapXp11.4NCBI
HuRefX37,648,006 - 37,771,447 (-)NCBIHuRef
CHM1_1X39,942,309 - 40,068,287 (-)NCBICHM1_1
T2T-CHM13v2.0X39,452,491 - 39,578,567 (-)NCBIT2T-CHM13v2.0
Bcor
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X11,902,976 - 12,026,769 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX11,902,979 - 12,026,594 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38X12,036,737 - 12,160,516 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX12,036,740 - 12,160,355 (-)Ensemblmm10GRCm38
MGSCv37X11,613,863 - 11,737,481 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36X11,193,696 - 11,237,013 (-)NCBIMGSCv36mm8
CeleraX9,733,265 - 9,856,163 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX6.83NCBI
Bcor
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X13,282,431 - 13,402,254 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX13,360,376 - 13,402,254 (+)EnsemblGRCr8
mRatBN7.2X10,609,756 - 10,729,613 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX10,687,732 - 10,729,613 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX10,875,038 - 10,916,895 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X14,371,910 - 14,413,764 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X10,634,826 - 10,676,706 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X11,570,155 - 11,692,022 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX11,648,989 - 11,691,099 (+)Ensemblrn6Rnor6.0
Rnor_5.0X12,366,781 - 12,488,777 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X22,699,778 - 22,820,234 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
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 (-)Ensembl
ChiLan1.0NW_0049555661,412,540 - 1,510,339 (-)NCBIChiLan1.0ChiLan1.0
BCOR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X41,696,464 - 41,822,839 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X41,699,844 - 41,826,220 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X32,497,931 - 32,624,307 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X40,203,565 - 40,328,788 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX40,202,235 - 40,249,986 (-)EnsemblpanPan2panpan1.1
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 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_TashaX21,969,928 - 22,084,065 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0X34,669,641 - 34,783,826 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX34,668,759 - 34,753,231 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X34,749,439 - 34,863,578 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X34,721,876 - 34,836,005 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X34,764,590 - 34,878,770 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Bcor
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X26,923,332 - 26,971,483 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365026,764,907 - 6,792,916 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365026,764,043 - 6,812,194 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCOR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX35,768,017 - 35,814,833 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1X35,768,013 - 35,891,013 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X39,823,458 - 39,946,360 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCOR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X37,191,242 - 37,319,966 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX37,192,874 - 37,319,782 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660762,405,573 - 2,532,624 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bcor
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476215,420,596 - 15,465,873 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462476215,338,331 - 15,465,683 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in BCOR
639 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001123385.2(BCOR):c.2287C>T (p.Arg763Trp) single nucleotide variant Inborn genetic diseases [RCV004021021]|not provided [RCV000254917] ChrX:40073059 [GRCh38]
ChrX:39932312 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) indel Microphthalmia, syndromic 1 [RCV002507270]|Oculofaciocardiodental syndrome [RCV001088553]|not provided [RCV000722304] ChrX:40072922..40072923 [GRCh38]
ChrX:39932175..39932176 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|uncertain significance
NM_001123385.2(BCOR):c.221G>A (p.Arg74His) single nucleotide variant Oculofaciocardiodental syndrome [RCV003509558]|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 BCOR-related disorder [RCV004547803]|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]|not provided [RCV001545250] 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
NC_000023.11:g.(40012195_40051245)_(40063072_40063607)del deletion Oculofaciocardiodental syndrome [RCV000011662] ChrX:40051245..40063072 [GRCh38]
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
NG_008880.1:g.(5324_84863)_?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 Oculofaciocardiodental syndrome [RCV002055213]|not provided [RCV000081808] ChrX:40074191 [GRCh38]
ChrX:39933444 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) single nucleotide variant Inborn genetic diseases [RCV002433591]|Oculofaciocardiodental syndrome [RCV000607441]|not provided [RCV001647061]|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 Inborn genetic diseases [RCV002316259]|Oculofaciocardiodental syndrome [RCV000472235]|not provided [RCV004703230]|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 Inborn genetic diseases [RCV002408610]|Oculofaciocardiodental syndrome [RCV000601319]|not provided [RCV001594831]|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 Microphthalmia, syndromic 1 [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 Oculofaciocardiodental syndrome [RCV001516966]|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 Inborn genetic diseases [RCV002316260]|Oculofaciocardiodental syndrome [RCV000612794]|not provided [RCV004713255]|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 Oculofaciocardiodental syndrome [RCV003621504]|not specified [RCV000120206] ChrX:40074082 [GRCh38]
ChrX:39933335 [GRCh37]
ChrX:Xp11.4		 uncertain significance|not provided
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) single nucleotide variant Inborn genetic diseases [RCV002514623]|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 Oculofaciocardiodental syndrome [RCV002515821]|not specified [RCV000120209] ChrX:40074330 [GRCh38]
ChrX:39933583 [GRCh37]
ChrX:Xp11.4		 uncertain significance|not provided
NM_001123385.2(BCOR):c.1448C>T (p.Pro483Leu) single nucleotide variant BCOR-related disorder [RCV004551183]|Oculofaciocardiodental syndrome [RCV001522695]|not specified [RCV000120210] ChrX:40073898 [GRCh38]
ChrX:39933151 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|not provided
NM_001123385.2(BCOR):c.1465C>T (p.Pro489Ser) single nucleotide variant Inborn genetic diseases [RCV004019668]|not specified [RCV000120211] ChrX:40073881 [GRCh38]
ChrX:39933134 [GRCh37]
ChrX:Xp11.4		 uncertain significance|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 Inborn genetic diseases [RCV004019669]|Oculofaciocardiodental syndrome [RCV000861482]|not provided [RCV001573019]|not specified [RCV000120213] ChrX:40074720 [GRCh38]
ChrX:39933973 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|not provided
NM_001123385.2(BCOR):c.2129G>A (p.Arg710His) single nucleotide variant Oculofaciocardiodental syndrome [RCV000537612]|not provided [RCV004721264]|not specified [RCV000120214] ChrX:40073217 [GRCh38]
ChrX:39932470 [GRCh37]
ChrX:Xp11.4		 benign|likely 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 Microphthalmia, syndromic 1 [RCV002505058]|Oculofaciocardiodental syndrome [RCV002514624]|not specified [RCV000120216] ChrX:40074937 [GRCh38]
ChrX:39934190 [GRCh37]
ChrX:Xp11.4		 likely benign|not provided
NM_001123385.2(BCOR):c.365T>C (p.Met122Thr) single nucleotide variant Inborn genetic diseases [RCV002515822]|not specified [RCV000120217] ChrX:40074981 [GRCh38]
ChrX:39934234 [GRCh37]
ChrX:Xp11.4		 likely benign|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 Developmental cataract [RCV000203411]|Inborn genetic diseases [RCV002444576]|Oculofaciocardiodental syndrome [RCV000864109]|not provided [RCV004721265]|not specified [RCV000120221] ChrX:40064561 [GRCh38]
ChrX:39923814 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic|benign|likely benign|uncertain significance|not provided
NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly) single nucleotide variant BCOR-related disorder [RCV004551184]|Oculofaciocardiodental syndrome [RCV000862923]|not provided [RCV005051750]|not specified [RCV000120222] ChrX:40063653 [GRCh38]
ChrX:39922906 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|uncertain significance|not provided
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) single nucleotide variant Inborn genetic diseases [RCV002371954]|Oculofaciocardiodental syndrome [RCV000529058]|not provided [RCV004713312]|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 Oculofaciocardiodental syndrome [RCV001854597]|not provided [RCV003436934]|not specified [RCV000120224] ChrX:40062905 [GRCh38]
ChrX:39922158 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance|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 BCOR-related disorder [RCV004552962]|Inborn genetic diseases [RCV002336422]|Oculofaciocardiodental syndrome [RCV001078522]|not provided [RCV000174383] ChrX:40055385 [GRCh38]
ChrX:39914638 [GRCh37]
ChrX:Xp11.4		 benign|likely 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 Oculofaciocardiodental syndrome [RCV002056021]|not provided [RCV000152857] ChrX:40071173 [GRCh38]
ChrX:39930426 [GRCh37]
ChrX:Xp11.4		 likely benign|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 Oculofaciocardiodental syndrome [RCV002054111]|not provided [RCV000178310] ChrX:40074509 [GRCh38]
ChrX:39933762 [GRCh37]
ChrX:Xp11.4		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001467488]|not provided [RCV000178311] ChrX:40072436 [GRCh38]
ChrX:39931689 [GRCh37]
ChrX:Xp11.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.3446C>T (p.Ala1149Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV001511859]|not provided [RCV000179954] ChrX:40064392 [GRCh38]
ChrX:39923645 [GRCh37]
ChrX:Xp11.4		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001089286]|not provided [RCV000180342]|not specified [RCV001818443] 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 BCOR-related disorder [RCV004553052]|Oculofaciocardiodental syndrome [RCV002056984]|not provided [RCV003436984]|not specified [RCV000192690] ChrX:40074827 [GRCh38]
ChrX:39934080 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) single nucleotide variant History of neurodevelopmental disorder [RCV000721076]|Oculofaciocardiodental syndrome [RCV000640959]|not provided [RCV001727625]|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 BCOR-related disorder [RCV004553048]|Microphthalmia, syndromic 1 [RCV000625946]|Oculofaciocardiodental syndrome [RCV000640962]|not provided [RCV001726037]|not specified [RCV000193574] ChrX:40073311 [GRCh38]
ChrX:39932564 [GRCh37]
ChrX:Xp11.4		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala) single nucleotide variant BCOR-related disorder [RCV004553049]|Oculofaciocardiodental syndrome [RCV002054256]|not specified [RCV000193700] ChrX:40064533 [GRCh38]
ChrX:39923786 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) single nucleotide variant BCOR-related disorder [RCV004553050]|Oculofaciocardiodental syndrome [RCV002054257]|not provided [RCV000726646]|not specified [RCV000193769] ChrX:40062247 [GRCh38]
ChrX:39921500 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.874G>T (p.Gly292Cys) single nucleotide variant Oculofaciocardiodental syndrome [RCV003621518]|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 BCOR-related disorder [RCV004553051]|Oculofaciocardiodental syndrome [RCV002517058]|not provided [RCV000862755]|not specified [RCV000194671] ChrX:40057262 [GRCh38]
ChrX:39916515 [GRCh37]
ChrX:Xp11.4		 benign|likely 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
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]|not specified [RCV001355713] 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 Developmental cataract [RCV000203315]|not provided [RCV002264918] ChrX:40074207..40074210 [GRCh38]
ChrX:39933460..39933463 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.4390_4393del (p.Glu1464fs) deletion Developmental 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 Oculofaciocardiodental syndrome [RCV003509523]|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]|not provided [RCV002284383] ChrX:40063601 [GRCh38]
ChrX:39922854 [GRCh37]
ChrX:Xp11.4		 benign|likely 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 Oculofaciocardiodental syndrome [RCV003509526]|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 Oculofaciocardiodental syndrome [RCV005055815]|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 Inborn genetic diseases [RCV004965375]|Oculofaciocardiodental syndrome [RCV001089070]|not provided [RCV000324033] ChrX:40072821 [GRCh38]
ChrX:39932074 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) microsatellite Glioblastoma [RCV000505675]|Inborn genetic diseases [RCV002365311]|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 Inborn genetic diseases [RCV002328771]|Oculofaciocardiodental syndrome [RCV002518911]|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 Oculofaciocardiodental syndrome [RCV002528223]|not provided [RCV000488027] ChrX:40064446 [GRCh38]
ChrX:39923699 [GRCh37]
ChrX:Xp11.4		 benign|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 disorder [RCV001270855]|Oculofaciocardiodental syndrome [RCV001780229]|not provided [RCV001564185] ChrX:40063806 [GRCh38]
ChrX:39923059 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.3053G>C (p.Arg1018Pro) single nucleotide variant Oculofaciocardiodental syndrome [RCV002292715] ChrX:40071158 [GRCh38]
ChrX:39930411 [GRCh37]
ChrX:Xp11.4		 uncertain significance
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.2389_2390del (p.Val797fs) deletion Oculofaciocardiodental syndrome [RCV001781142]|not provided [RCV004728815] ChrX:40072956..40072957 [GRCh38]
ChrX:39932209..39932210 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely 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 Oculofaciocardiodental syndrome [RCV002529996] 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.1293C>G (p.Thr431=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002067103]|not provided [RCV000729938] ChrX:40074053 [GRCh38]
ChrX:39933306 [GRCh37]
ChrX:Xp11.4		 likely benign|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 Developmental 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 BCOR-related disorder [RCV004553196]|Oculofaciocardiodental syndrome [RCV000538294] ChrX:40064427..40064428 [GRCh38]
ChrX:39923680..39923681 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=) single nucleotide variant Inborn genetic diseases [RCV002341327]|Oculofaciocardiodental syndrome [RCV000539211]|not provided [RCV004714057] ChrX:40054038 [GRCh38]
ChrX:39913291 [GRCh37]
ChrX:Xp11.4		 benign|likely 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 Abnormal brain morphology [RCV000454264]|Oculofaciocardiodental syndrome [RCV003989531]|not specified [RCV002248664] ChrX:40062275 [GRCh38]
ChrX:39921528 [GRCh37]
ChrX:Xp11.4		 likely pathogenic|uncertain significance
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 Inborn genetic diseases [RCV004601170]|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.932AGC[1] (p.Gln312del) microsatellite Oculofaciocardiodental syndrome [RCV002063688]|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 Oculofaciocardiodental syndrome [RCV002526652]|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		 conflicting interpretations of pathogenicity|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 BCOR-related disorder [RCV004551625]|Oculofaciocardiodental syndrome [RCV002527208]|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 Oculofaciocardiodental syndrome [RCV005091085]|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 Microphthalmia, syndromic 1 [RCV002496943]|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.3646_3647del (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|uncertain significance
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]|not provided [RCV001528742] ChrX:40052243 [GRCh38]
ChrX:39911496 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.680A>G (p.Tyr227Cys) single nucleotide variant Inborn genetic diseases [RCV003282090] ChrX:40074666 [GRCh38]
ChrX:39933919 [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		 likely pathogenic|uncertain significance
NM_001123385.2(BCOR):c.2488_2489del (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]|not provided [RCV003437354] 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 BCOR-related disorder [RCV004547804]|Oculofaciocardiodental syndrome [RCV000640961] ChrX:40064347 [GRCh38]
ChrX:39923600 [GRCh37]
ChrX:Xp11.4		 benign|likely 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.3355C>T (p.Gln1119Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV003485869] ChrX:40064483 [GRCh38]
ChrX:39923736 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.184C>T (p.His62Tyr) single nucleotide variant Oculofaciocardiodental syndrome [RCV003486024] ChrX:40075162 [GRCh38]
ChrX:39934415 [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 Inborn genetic diseases [RCV004026617]|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 BCOR-related disorder [RCV004547873]|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 BCOR-related disorder [RCV004547915]|History of neurodevelopmental disorder [RCV000721089]|Oculofaciocardiodental syndrome [RCV001514897] ChrX:40064533 [GRCh38]
ChrX:39923786 [GRCh37]
ChrX:Xp11.4		 benign|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 BCOR-related disorder [RCV004547914]|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 BCOR-related disorder [RCV004547942]|Inborn genetic diseases [RCV002533757]|not specified [RCV000736069] ChrX:40063922 [GRCh38]
ChrX:39923175 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
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 Autism [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.3052-22del deletion not provided [RCV001690674] ChrX:40071181 [GRCh38]
ChrX:39930434 [GRCh37]
ChrX:Xp11.4		 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 BCOR-related disorder [RCV004549919]|Oculofaciocardiodental syndrome [RCV000861229]|not provided [RCV003437446] ChrX:40064460 [GRCh38]
ChrX:39923713 [GRCh37]
ChrX:Xp11.4		 benign|likely 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
NM_001123385.2(BCOR):c.4478G>A (p.Arg1493Gln) single nucleotide variant not provided [RCV003239096] ChrX:40057272 [GRCh38]
ChrX:39916525 [GRCh37]
ChrX:Xp11.4		 uncertain significance
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.4977-74G>A single nucleotide variant not provided [RCV001567395] ChrX:40052474 [GRCh38]
ChrX:39911727 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4742-234C>T single nucleotide variant not provided [RCV001582027] ChrX:40054567 [GRCh38]
ChrX:39913820 [GRCh37]
ChrX:Xp11.4		 likely benign
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 Inborn genetic diseases [RCV002539054]|Oculofaciocardiodental syndrome [RCV000869851] ChrX:40053931 [GRCh38]
ChrX:39913184 [GRCh37]
ChrX:Xp11.4		 benign|likely 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|likely benign
NM_001123385.2(BCOR):c.4305A>G (p.Pro1435=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002062249]|not provided [RCV004714136] 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]|not provided [RCV003884754] ChrX:40074400 [GRCh38]
ChrX:39933653 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.696G>A (p.Pro232=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001409473]|not specified [RCV001818933] ChrX:40074650 [GRCh38]
ChrX:39933903 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu) single nucleotide variant Inborn genetic diseases [RCV002539093]|Oculofaciocardiodental syndrome [RCV001511867]|not provided [RCV000870784] ChrX:40053902 [GRCh38]
ChrX:39913155 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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 BCOR-related disorder [RCV004549944]|Inborn genetic diseases [RCV004962880]|Oculofaciocardiodental syndrome [RCV002536272] ChrX:40052376 [GRCh38]
ChrX:39911629 [GRCh37]
ChrX:Xp11.4		 benign|likely 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 Oculofaciocardiodental syndrome [RCV002065992] ChrX:40073003 [GRCh38]
ChrX:39932256 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.759C>T (p.Val253=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002062275]|not provided [RCV005243379] ChrX:40074587 [GRCh38]
ChrX:39933840 [GRCh37]
ChrX:Xp11.4		 benign|likely 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 Oculofaciocardiodental syndrome [RCV002539235] 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 Oculofaciocardiodental syndrome [RCV001514770] 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
NM_001123385.2(BCOR):c.3933C>G (p.Cys1311Trp) single nucleotide variant not provided [RCV001571300] ChrX:40062986 [GRCh38]
ChrX:39922239 [GRCh37]
ChrX:Xp11.4		 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 Oculofaciocardiodental syndrome [RCV002535663]|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 Oculofaciocardiodental syndrome [RCV003621575] 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 Oculofaciocardiodental syndrome [RCV001454677] ChrX:40062154 [GRCh38]
ChrX:39921407 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.906C>T (p.His302=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001513607] ChrX:40074440 [GRCh38]
ChrX:39933693 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4902C>T (p.Ser1634=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003509620]|not specified [RCV001817070] ChrX:40053960 [GRCh38]
ChrX:39913213 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.3831C>T (p.Pro1277=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001514184] ChrX:40063624 [GRCh38]
ChrX:39922877 [GRCh37]
ChrX:Xp11.4		 benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu) single nucleotide variant BCOR-related disorder [RCV004549929]|Oculofaciocardiodental syndrome [RCV000863169] ChrX:40073058 [GRCh38]
ChrX:39932311 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) single nucleotide variant BCOR-related disorder [RCV004551899]|Microphthalmia, syndromic 1 [RCV002489255]|not provided [RCV000938240] ChrX:40072923 [GRCh38]
ChrX:39932176 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.1620G>A (p.Arg540=) single nucleotide variant BCOR-related disorder [RCV004549935]|Oculofaciocardiodental syndrome [RCV001519676] ChrX:40073726 [GRCh38]
ChrX:39932979 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.1669G>A (p.Val557Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV002536244] 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 Oculofaciocardiodental syndrome [RCV003621577] ChrX:40074482 [GRCh38]
ChrX:39933735 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2409T>A (p.Leu803=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001444421] 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 BCOR-related disorder [RCV004551898]|not provided [RCV000938239] ChrX:40072922 [GRCh38]
ChrX:39932175 [GRCh37]
ChrX:Xp11.4		 benign|likely 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 BCOR-related disorder [RCV004549903]|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		 conflicting interpretations of pathogenicity|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 Inborn genetic diseases [RCV002332766]|Microphthalmia, syndromic 1 [RCV002507471]|Oculofaciocardiodental syndrome [RCV000862354]|not provided [RCV004714134] ChrX:40074864 [GRCh38]
ChrX:39934117 [GRCh37]
ChrX:Xp11.4		 benign|likely 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		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.2877A>G (p.Pro959=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003768723] 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 BCOR-related disorder [RCV004549933]|Oculofaciocardiodental syndrome [RCV001513376] ChrX:40053972 [GRCh38]
ChrX:39913225 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr) single nucleotide variant Inborn genetic diseases [RCV004030032]|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]|not specified [RCV001816950] 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]|not provided [RCV004714132] 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.3976_3979del (p.Glu1326fs) deletion Oculofaciocardiodental syndrome [RCV004782224] ChrX:40062940..40062943 [GRCh38]
ChrX:39922193..39922196 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
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]|not provided [RCV001539815] 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]|not provided [RCV003442792] 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 Inborn genetic diseases [RCV002560245]|Oculofaciocardiodental syndrome [RCV001198283] ChrX:40053959 [GRCh38]
ChrX:39913212 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NC_000023.10:g.(?_39911362)_(41782241_?)dup duplication not provided [RCV003105644] ChrX:39911362..41782241 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NC_000023.10:g.(?_39911362)_(41782241_?)del deletion Syndromic X-linked intellectual disability Hedera type [RCV003122552]|not provided [RCV003105645] ChrX:39911362..41782241 [GRCh37]
ChrX:Xp11.4		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001123385.2(BCOR):c.4405C>T (p.Arg1469Trp) single nucleotide variant not provided [RCV003237150] ChrX:40062162 [GRCh38]
ChrX:39921415 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.165+166C>T single nucleotide variant not provided [RCV001547064] ChrX:40076288 [GRCh38]
ChrX:39935541 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1539dup (p.Pro514fs) duplication Oculofaciocardiodental syndrome (OFCD) [RCV004556164] ChrX:40073806..40073807 [GRCh38]
ChrX:39933059..39933060 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.3155A>C (p.Glu1052Ala) single nucleotide variant not provided [RCV003126966] ChrX:40071056 [GRCh38]
ChrX:39930309 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4173+127T>G single nucleotide variant not provided [RCV001673341] ChrX:40062619 [GRCh38]
ChrX:39921872 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4429-35T>C single nucleotide variant not provided [RCV001645602] ChrX:40057356 [GRCh38]
ChrX:39916609 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4765C>T (p.Arg1589Cys) single nucleotide variant Oculofaciocardiodental syndrome [RCV002073223]|not provided [RCV001694335] ChrX:40054310 [GRCh38]
ChrX:39913563 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.87-202C>T single nucleotide variant not provided [RCV001595284] ChrX:40076734 [GRCh38]
ChrX:39935987 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.2124C>T (p.Thr708=) single nucleotide variant Inborn genetic diseases [RCV002415978]|Oculofaciocardiodental syndrome [RCV003621574] ChrX:40073222 [GRCh38]
ChrX:39932475 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.4599T>C (p.Pro1533=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001398362] 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 Oculofaciocardiodental syndrome [RCV002538973] ChrX:40062364 [GRCh38]
ChrX:39921617 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4383C>T (p.Asn1461=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001519255]|not provided [RCV003438509] ChrX:40062184 [GRCh38]
ChrX:39921437 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.5193C>T (p.Asn1731=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002536768]|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.4541G>A (p.Arg1514Gln) single nucleotide variant not provided [RCV001760646] ChrX:40057209 [GRCh38]
ChrX:39916462 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) single nucleotide variant Intellectual disability [RCV001251681]|Oculofaciocardiodental syndrome [RCV000864747]|not provided [RCV003438511] 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]|not provided [RCV004809034] ChrX:40074695 [GRCh38]
ChrX:39933948 [GRCh37]
ChrX:Xp11.4		 likely benign|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 Oculofaciocardiodental syndrome [RCV001523162] ChrX:40063081 [GRCh38]
ChrX:39922334 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.2997+214G>A single nucleotide variant not provided [RCV001557190] ChrX:40072135 [GRCh38]
ChrX:39931388 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.467A>C (p.Gln156Pro) single nucleotide variant BCOR-related disorder [RCV001563665] ChrX:40074879 [GRCh38]
ChrX:39934132 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4596-117G>A single nucleotide variant not provided [RCV001552717] ChrX:40055630 [GRCh38]
ChrX:39914883 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3404_3422del (p.Lys1135fs) deletion Oculofaciocardiodental syndrome [RCV002251299] ChrX:40064416..40064434 [GRCh38]
ChrX:39923669..39923687 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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
NM_001123385.2(BCOR):c.4977-182C>A single nucleotide variant not provided [RCV001639189] ChrX:40052582 [GRCh38]
ChrX:39911835 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.3503-1G>C single nucleotide variant not provided [RCV001587578] ChrX:40063953 [GRCh38]
ChrX:39923206 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.*299_*300dup duplication not provided [RCV001614288] ChrX:40051808..40051809 [GRCh38]
ChrX:39911061..39911062 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.163G>A (p.Val55Met) single nucleotide variant not provided [RCV001699932] ChrX:40076456 [GRCh38]
ChrX:39935709 [GRCh37]
ChrX:Xp11.4		 uncertain significance
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.4976+69G>A single nucleotide variant not provided [RCV001649985] ChrX:40053817 [GRCh38]
ChrX:39913070 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4551del (p.Glu1518fs) deletion Oculofaciocardiodental syndrome [RCV001542514] ChrX:40057199 [GRCh38]
ChrX:39916452 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.166-172G>A single nucleotide variant not provided [RCV001586620] ChrX:40075352 [GRCh38]
ChrX:39934605 [GRCh37]
ChrX:Xp11.4		 likely benign
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.3052-22dup duplication not provided [RCV001649393] ChrX:40071180..40071181 [GRCh38]
ChrX:39930433..39930434 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4742-167dup duplication not provided [RCV001587993] ChrX:40054499..40054500 [GRCh38]
ChrX:39913752..39913753 [GRCh37]
ChrX:Xp11.4		 likely benign
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.3848-32G>C single nucleotide variant not provided [RCV001566433] ChrX:40063103 [GRCh38]
ChrX:39922356 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4742-167del deletion not provided [RCV001694990] ChrX:40054500 [GRCh38]
ChrX:39913753 [GRCh37]
ChrX:Xp11.4		 benign
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]|not provided [RCV003442765] 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 Inborn genetic diseases [RCV002568734]|Oculofaciocardiodental syndrome [RCV001253398] ChrX:40052335 [GRCh38]
ChrX:39911588 [GRCh37]
ChrX:Xp11.4		 pathogenic|uncertain significance
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 Oculofaciocardiodental syndrome [RCV004799442] ChrX:40073080 [GRCh38]
ChrX:39932333 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3848-35T>C single nucleotide variant Oculofaciocardiodental syndrome [RCV001554053]|not provided [RCV001685516] ChrX:40063106 [GRCh38]
ChrX:39922359 [GRCh37]
ChrX:Xp11.4		 benign
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001123385.2(BCOR):c.4742-69G>A single nucleotide variant not provided [RCV001540431] ChrX:40054402 [GRCh38]
ChrX:39913655 [GRCh37]
ChrX:Xp11.4		 benign
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
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [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
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.2690C>T (p.Ser897Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001368691] ChrX:40072656 [GRCh38]
ChrX:39931909 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4944G>A (p.Pro1648=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001414932] ChrX:40053918 [GRCh38]
ChrX:39913171 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3692G>A (p.Arg1231Gln) single nucleotide variant Oculofaciocardiodental syndrome [RCV001360526] ChrX:40063763 [GRCh38]
ChrX:39923016 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NC_000023.10:g.(?_39916388)_(39937202_?)del deletion Oculofaciocardiodental syndrome [RCV001382812] ChrX:39916388..39937202 [GRCh37]
ChrX:Xp11.4		 pathogenic
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
NM_001123385.2(BCOR):c.5157A>T (p.Glu1719Asp) single nucleotide variant Oculofaciocardiodental syndrome [RCV001365167] ChrX:40052220 [GRCh38]
ChrX:39911473 [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
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr) single nucleotide variant Inborn genetic diseases [RCV003160872]|Oculofaciocardiodental syndrome [RCV001461610]|not provided [RCV001727856]|not specified [RCV001700752] ChrX:40064489 [GRCh38]
ChrX:39923742 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.1153G>A (p.Ala385Thr) single nucleotide variant Oculofaciocardiodental syndrome [RCV001420602] ChrX:40074193 [GRCh38]
ChrX:39933446 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.188G>A (p.Arg63Lys) single nucleotide variant Oculofaciocardiodental syndrome [RCV001514826]|not provided [RCV004714234] ChrX:40075158 [GRCh38]
ChrX:39934411 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4581C>T (p.Ala1527=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001521234] ChrX:40057169 [GRCh38]
ChrX:39916422 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.455C>T (p.Pro152Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001521826] ChrX:40074891 [GRCh38]
ChrX:39934144 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.885T>C (p.Pro295=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001434598] ChrX:40074461 [GRCh38]
ChrX:39933714 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4497C>A (p.Cys1499Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV001386734] ChrX:40057253 [GRCh38]
ChrX:39916506 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1668C>T (p.Asn556=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001446507] ChrX:40073678 [GRCh38]
ChrX:39932931 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3693G>T (p.Arg1231=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001490414] ChrX:40063762 [GRCh38]
ChrX:39923015 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3410A>G (p.Lys1137Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV001515666] ChrX:40064428 [GRCh38]
ChrX:39923681 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.2769A>G (p.Pro923=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001516147] ChrX:40072577 [GRCh38]
ChrX:39931830 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.1242G>A (p.Ala414=) single nucleotide variant BCOR-related disorder [RCV004550289]|Oculofaciocardiodental syndrome [RCV001516149] ChrX:40074104 [GRCh38]
ChrX:39933357 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.2512C>T (p.Pro838Ser) single nucleotide variant BCOR-related disorder [RCV004550281]|Oculofaciocardiodental syndrome [RCV001511864] ChrX:40072834 [GRCh38]
ChrX:39932087 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.3238+183C>T single nucleotide variant not provided [RCV001585339] ChrX:40070790 [GRCh38]
ChrX:39930043 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.387C>G (p.Pro129=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001478011] ChrX:40074959 [GRCh38]
ChrX:39934212 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4218C>T (p.Asp1406=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001501944] ChrX:40062349 [GRCh38]
ChrX:39921602 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.179C>T (p.Thr60Met) single nucleotide variant BCOR-related disorder [RCV004550292]|Oculofaciocardiodental syndrome [RCV001519682]|not provided [RCV003883688] ChrX:40075167 [GRCh38]
ChrX:39934420 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.2898C>T (p.Ile966=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001519759] ChrX:40072448 [GRCh38]
ChrX:39931701 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.3090_3093del (p.Arg1031fs) microsatellite Oculofaciocardiodental syndrome [RCV001382052] ChrX:40071118..40071121 [GRCh38]
ChrX:39930371..39930374 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1045C>T (p.Pro349Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV001424691] ChrX:40074301 [GRCh38]
ChrX:39933554 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4485C>T (p.Asn1495=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001430958] ChrX:40057265 [GRCh38]
ChrX:39916518 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.5062G>C (p.Glu1688Gln) single nucleotide variant not provided [RCV001755172] ChrX:40052315 [GRCh38]
ChrX:39911568 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1381A>G (p.Met461Val) single nucleotide variant Inborn genetic diseases [RCV003289076]|Oculofaciocardiodental syndrome [RCV002540358]|not provided [RCV001754839] ChrX:40073965 [GRCh38]
ChrX:39933218 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.728G>A (p.Arg243His) single nucleotide variant not provided [RCV002255029] ChrX:40074618 [GRCh38]
ChrX:39933871 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4714del (p.Ser1572fs) deletion BCOR-related disorder [RCV001733821] ChrX:40055395 [GRCh38]
ChrX:39914648 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.4345A>G (p.Met1449Val) single nucleotide variant not provided [RCV001767033] ChrX:40062222 [GRCh38]
ChrX:39921475 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3958A>G (p.Lys1320Glu) single nucleotide variant not provided [RCV001772409] ChrX:40062961 [GRCh38]
ChrX:39922214 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.733C>T (p.Leu245Phe) single nucleotide variant Oculofaciocardiodental syndrome [RCV005094946]|not provided [RCV001754449] ChrX:40074613 [GRCh38]
ChrX:39933866 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1952T>C (p.Ile651Thr) single nucleotide variant not provided [RCV001768845] ChrX:40073394 [GRCh38]
ChrX:39932647 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2416G>A (p.Val806Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV005057568]|not provided [RCV001773890] ChrX:40072930 [GRCh38]
ChrX:39932183 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1157C>A (p.Ala386Asp) single nucleotide variant not provided [RCV001765359] ChrX:40074189 [GRCh38]
ChrX:39933442 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1523C>T (p.Ser508Phe) single nucleotide variant Oculofaciocardiodental syndrome [RCV001868519]|not provided [RCV001752554] ChrX:40073823 [GRCh38]
ChrX:39933076 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4349C>T (p.Pro1450Leu) single nucleotide variant not provided [RCV001770753] ChrX:40062218 [GRCh38]
ChrX:39921471 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1775C>A (p.Pro592Gln) single nucleotide variant not provided [RCV001769229] ChrX:40073571 [GRCh38]
ChrX:39932824 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3691C>T (p.Arg1231Trp) single nucleotide variant Inborn genetic diseases [RCV004040931]|Oculofaciocardiodental syndrome [RCV001808997] ChrX:40063764 [GRCh38]
ChrX:39923017 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1411G>C (p.Ala471Pro) single nucleotide variant Oculofaciocardiodental syndrome [RCV001795824] ChrX:40073935 [GRCh38]
ChrX:39933188 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.739C>T (p.Leu247=) single nucleotide variant BCOR-related disorder [RCV004552039]|Oculofaciocardiodental syndrome [RCV002541974]|not specified [RCV001817167] ChrX:40074607 [GRCh38]
ChrX:39933860 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.1805C>T (p.Pro602Leu) single nucleotide variant not specified [RCV001817290] ChrX:40073541 [GRCh38]
ChrX:39932794 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3053G>A (p.Arg1018His) single nucleotide variant not provided [RCV001760932] ChrX:40071158 [GRCh38]
ChrX:39930411 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr) single nucleotide variant Microphthalmia, syndromic 1 [RCV002482365]|Oculofaciocardiodental syndrome [RCV003509699]|not specified [RCV001820422] ChrX:40074268 [GRCh38]
ChrX:39933521 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.954C>T (p.Ala318=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003509700]|not specified [RCV001820423] ChrX:40074392 [GRCh38]
ChrX:39933645 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.790C>T (p.Pro264Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV003621612]|not specified [RCV001822850] ChrX:40074556 [GRCh38]
ChrX:39933809 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.2600A>G (p.Glu867Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV001808996] ChrX:40072746 [GRCh38]
ChrX:39931999 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3291C>A (p.Asp1097Glu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001950242] ChrX:40064547 [GRCh38]
ChrX:39923800 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.578A>G (p.Asn193Ser) single nucleotide variant Inborn genetic diseases [RCV004970608]|Oculofaciocardiodental syndrome [RCV001950673] ChrX:40074768 [GRCh38]
ChrX:39934021 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001123385.2(BCOR):c.3987G>C (p.Lys1329Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV002004833] ChrX:40062932 [GRCh38]
ChrX:39922185 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1910C>G (p.Ser637Cys) single nucleotide variant Oculofaciocardiodental syndrome [RCV001911504] ChrX:40073436 [GRCh38]
ChrX:39932689 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Intellectual disability, CASK-related, X-linked [RCV003117447]|Syndromic X-linked intellectual disability Hedera type [RCV000640920] ChrX:39911342..41782261 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 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.2903A>G (p.Asn968Ser) single nucleotide variant not provided [RCV001355621] ChrX:40072443 [GRCh38]
ChrX:39931696 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.51C>G (p.Ser17Arg) single nucleotide variant Inborn genetic diseases [RCV003169903]|Oculofaciocardiodental syndrome [RCV001370349] ChrX:40077879 [GRCh38]
ChrX:39937132 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4560C>G (p.Gly1520=) single nucleotide variant Oculofaciocardiodental syndrome [RCV001513099] ChrX:40057190 [GRCh38]
ChrX:39916443 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.3226del (p.Glu1076fs) deletion Oculofaciocardiodental syndrome [RCV001730135] ChrX:40070985 [GRCh38]
ChrX:39930238 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.4173+2T>C single nucleotide variant not provided [RCV001777195] ChrX:40062744 [GRCh38]
ChrX:39921997 [GRCh37]
ChrX:Xp11.4		 not provided
NM_001123385.2(BCOR):c.2738C>A (p.Thr913Asn) single nucleotide variant not provided [RCV001757141] ChrX:40072608 [GRCh38]
ChrX:39931861 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3626G>A (p.Arg1209His) single nucleotide variant not provided [RCV001766940] ChrX:40063829 [GRCh38]
ChrX:39923082 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2617C>T (p.Gln873Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV001781145] ChrX:40072729 [GRCh38]
ChrX:39931982 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.439G>A (p.Ala147Thr) single nucleotide variant Inborn genetic diseases [RCV004040197]|not provided [RCV001756983] ChrX:40074907 [GRCh38]
ChrX:39934160 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1981C>G (p.Pro661Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV001983228] ChrX:40073365 [GRCh38]
ChrX:39932618 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4240C>G (p.Gln1414Glu) single nucleotide variant Oculofaciocardiodental syndrome [RCV002039284] ChrX:40062327 [GRCh38]
ChrX:39921580 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4076G>T (p.Gly1359Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV001984346] ChrX:40062843 [GRCh38]
ChrX:39922096 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2815T>C (p.Tyr939His) single nucleotide variant Oculofaciocardiodental syndrome [RCV001942438] ChrX:40072531 [GRCh38]
ChrX:39931784 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1064C>T (p.Ser355Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001930410] ChrX:40074282 [GRCh38]
ChrX:39933535 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2655_2660del (p.Gly886_Thr887del) deletion Oculofaciocardiodental syndrome [RCV001879353] ChrX:40072686..40072691 [GRCh38]
ChrX:39931939..39931944 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2789C>G (p.Pro930Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV001920921] ChrX:40072557 [GRCh38]
ChrX:39931810 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.947C>A (p.Pro316His) single nucleotide variant Oculofaciocardiodental syndrome [RCV002016524] ChrX:40074399 [GRCh38]
ChrX:39933652 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3872C>T (p.Pro1291Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV001978287] ChrX:40063047 [GRCh38]
ChrX:39922300 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NC_000023.10:g.(?_39911362)_(41091777_?)dup duplication Syndromic X-linked intellectual disability Hedera type [RCV001920633] ChrX:39911362..41091777 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.438T>A (p.Ser146Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV001992073] ChrX:40074908 [GRCh38]
ChrX:39934161 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4858C>G (p.Pro1620Ala) single nucleotide variant Inborn genetic diseases [RCV003164144]|Oculofaciocardiodental syndrome [RCV001900225] ChrX:40054004 [GRCh38]
ChrX:39913257 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.176G>A (p.Ser59Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV001930302] ChrX:40075170 [GRCh38]
ChrX:39934423 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.235C>T (p.Arg79Trp) single nucleotide variant Oculofaciocardiodental syndrome [RCV001952805] ChrX:40075111 [GRCh38]
ChrX:39934364 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.733C>A (p.Leu245Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV001883681] ChrX:40074613 [GRCh38]
ChrX:39933866 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.627G>A (p.Ser209=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002206060] ChrX:40074719 [GRCh38]
ChrX:39933972 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3847+17C>T single nucleotide variant Oculofaciocardiodental syndrome [RCV002106674] ChrX:40063591 [GRCh38]
ChrX:39922844 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.594T>C (p.Gly198=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002190550] ChrX:40074752 [GRCh38]
ChrX:39934005 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.5058C>T (p.Asn1686=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002088355] ChrX:40052319 [GRCh38]
ChrX:39911572 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.3502+19G>A single nucleotide variant Oculofaciocardiodental syndrome [RCV002106563] ChrX:40064317 [GRCh38]
ChrX:39923570 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3813G>A (p.Ser1271=) single nucleotide variant BCOR-related disorder [RCV004729083]|Oculofaciocardiodental syndrome [RCV002129796] ChrX:40063642 [GRCh38]
ChrX:39922895 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.242G>A (p.Gly81Glu) single nucleotide variant Inborn genetic diseases [RCV002553686]|Oculofaciocardiodental syndrome [RCV002174936] ChrX:40075104 [GRCh38]
ChrX:39934357 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.4152C>T (p.Tyr1384=) single nucleotide variant BCOR-related disorder [RCV004553697]|Oculofaciocardiodental syndrome [RCV002080908]|not provided [RCV003438937] ChrX:40062767 [GRCh38]
ChrX:39922020 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.699G>A (p.Leu233=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002133431] ChrX:40074647 [GRCh38]
ChrX:39933900 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.86+8C>G single nucleotide variant Oculofaciocardiodental syndrome [RCV002095134] ChrX:40077836 [GRCh38]
ChrX:39937089 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4174-20G>A single nucleotide variant Oculofaciocardiodental syndrome [RCV002132331] ChrX:40062413 [GRCh38]
ChrX:39921666 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs) deletion Oculofaciocardiodental syndrome [RCV002226914] ChrX:40062238..40062239 [GRCh38]
ChrX:39921491..39921492 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.4428+16C>T single nucleotide variant Oculofaciocardiodental syndrome [RCV002202457] ChrX:40062123 [GRCh38]
ChrX:39921376 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4008C>T (p.Asp1336=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002099164] ChrX:40062911 [GRCh38]
ChrX:39922164 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4751del (p.Asn1584fs) deletion Acute myeloid leukemia [RCV002227834] ChrX:40054324 [GRCh38]
ChrX:39913577 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.981G>A (p.Gly327=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002100735] ChrX:40074365 [GRCh38]
ChrX:39933618 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2694T>G (p.Thr898=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002202599] ChrX:40072652 [GRCh38]
ChrX:39931905 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1529dup (p.Val511fs) duplication Oculofaciocardiodental syndrome [RCV002222277] ChrX:40073816..40073817 [GRCh38]
ChrX:39933069..39933070 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1707C>T (p.Ser569=) single nucleotide variant BCOR-related disorder [RCV004553727]|Oculofaciocardiodental syndrome [RCV002122166] ChrX:40073639 [GRCh38]
ChrX:39932892 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1651G>A (p.Asp551Asn) single nucleotide variant BCOR-related disorder [RCV004553645]|Oculofaciocardiodental syndrome [RCV002082432]|not provided [RCV005242153] ChrX:40073695 [GRCh38]
ChrX:39932948 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.3257A>G (p.Asn1086Ser) single nucleotide variant not provided [RCV004784637] ChrX:40064581 [GRCh38]
ChrX:39923834 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4606G>A (p.Asp1536Asn) single nucleotide variant not provided [RCV004784708] ChrX:40055503 [GRCh38]
ChrX:39914756 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4596-10C>G single nucleotide variant Oculofaciocardiodental syndrome [RCV003116025] ChrX:40055523 [GRCh38]
ChrX:39914776 [GRCh37]
ChrX:Xp11.4		 likely benign
NC_000023.10:g.(?_39921372)_(39923872_?)del deletion Oculofaciocardiodental syndrome [RCV003119788] ChrX:39921372..39923872 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.3812C>T (p.Ser1271Leu) single nucleotide variant not provided [RCV004787225] ChrX:40063643 [GRCh38]
ChrX:39922896 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3888_3889del (p.Ser1297fs) deletion Oculofaciocardiodental syndrome [RCV003153104] ChrX:40063030..40063031 [GRCh38]
ChrX:39922283..39922284 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.206C>T (p.Ala69Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV003148222] ChrX:40075140 [GRCh38]
ChrX:39934393 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001123385.2(BCOR):c.2516A>G (p.Lys839Arg) single nucleotide variant not provided [RCV002288027] ChrX:40072830 [GRCh38]
ChrX:39932083 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1571G>A (p.Ser524Asn) single nucleotide variant not provided [RCV002269525] ChrX:40073775 [GRCh38]
ChrX:39933028 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.590A>C (p.Glu197Ala) single nucleotide variant not provided [RCV002281447] ChrX:40074756 [GRCh38]
ChrX:39934009 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4376A>G (p.Asn1459Ser) single nucleotide variant not provided [RCV002292176] ChrX:40062191 [GRCh38]
ChrX:39921444 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.976C>G (p.Pro326Ala) single nucleotide variant not provided [RCV003236160] ChrX:40074370 [GRCh38]
ChrX:39933623 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2722G>A (p.Asp908Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV002266787] ChrX:40072624 [GRCh38]
ChrX:39931877 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2038_2040dup (p.Tyr680_Pro681insTyr) duplication Inborn genetic diseases [RCV002419869] ChrX:40073305..40073306 [GRCh38]
ChrX:39932558..39932559 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.460G>A (p.Gly154Arg) single nucleotide variant not provided [RCV002288133] ChrX:40074886 [GRCh38]
ChrX:39934139 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4977-4_4977-2delinsTTG indel Oculofaciocardiodental syndrome [RCV003147924] ChrX:40052402..40052404 [GRCh38]
ChrX:39911655..39911657 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
GRCh37/hg19 Xp11.4(chrX:39697946-39914660)x3 copy number gain not provided [RCV002474633] ChrX:39697946..39914660 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.493G>C (p.Ala165Pro) single nucleotide variant Inborn genetic diseases [RCV002342681]|Oculofaciocardiodental syndrome [RCV003102657] ChrX:40074853 [GRCh38]
ChrX:39934106 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs) indel Oculofaciocardiodental syndrome [RCV002471607] ChrX:40071045..40071046 [GRCh38]
ChrX:39930298..39930299 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.5144C>T (p.Ala1715Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV002303889] ChrX:40052233 [GRCh38]
ChrX:39911486 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.458C>T (p.Pro153Leu) single nucleotide variant BCOR-related disorder [RCV004548277]|Inborn genetic diseases [RCV002342266]|not provided [RCV003128953] ChrX:40074888 [GRCh38]
ChrX:39934141 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4017G>C (p.Glu1339Asp) single nucleotide variant not provided [RCV002308943] ChrX:40062902 [GRCh38]
ChrX:39922155 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4852G>T (p.Ala1618Ser) single nucleotide variant not provided [RCV002301060] ChrX:40054010 [GRCh38]
ChrX:39913263 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.383C>T (p.Thr128Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV002301969] ChrX:40074963 [GRCh38]
ChrX:39934216 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4009G>A (p.Glu1337Lys) single nucleotide variant Oculofaciocardiodental syndrome [RCV002994286] ChrX:40062910 [GRCh38]
ChrX:39922163 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4760A>G (p.Gln1587Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV002904279] ChrX:40054315 [GRCh38]
ChrX:39913568 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2422C>T (p.Leu808Phe) single nucleotide variant Inborn genetic diseases [RCV002860875] ChrX:40072924 [GRCh38]
ChrX:39932177 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV003075002] ChrX:40071058 [GRCh38]
ChrX:39930311 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.4822C>A (p.Pro1608Thr) single nucleotide variant Inborn genetic diseases [RCV002752041] ChrX:40054040 [GRCh38]
ChrX:39913293 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3386C>T (p.Thr1129Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV003075106] ChrX:40064452 [GRCh38]
ChrX:39923705 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1862A>G (p.Asn621Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV003034971] ChrX:40073484 [GRCh38]
ChrX:39932737 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3560A>G (p.His1187Arg) single nucleotide variant Inborn genetic diseases [RCV002773398]|not provided [RCV003443149] ChrX:40063895 [GRCh38]
ChrX:39923148 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.387C>A (p.Pro129=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003074014] ChrX:40074959 [GRCh38]
ChrX:39934212 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.5152C>T (p.Pro1718Ser) single nucleotide variant Inborn genetic diseases [RCV002840770] ChrX:40052225 [GRCh38]
ChrX:39911478 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.922C>T (p.Gln308Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV002996992] ChrX:40074424 [GRCh38]
ChrX:39933677 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.4644A>G (p.Leu1548=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003073713] ChrX:40055465 [GRCh38]
ChrX:39914718 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.799C>G (p.Leu267Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV002819411] ChrX:40074547 [GRCh38]
ChrX:39933800 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3633G>A (p.Leu1211=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002999455] ChrX:40063822 [GRCh38]
ChrX:39923075 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.2407C>T (p.Leu803Phe) single nucleotide variant Inborn genetic diseases [RCV002692205] ChrX:40072939 [GRCh38]
ChrX:39932192 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3340G>A (p.Glu1114Lys) single nucleotide variant BCOR-related disorder [RCV004548388]|Oculofaciocardiodental syndrome [RCV002913147] ChrX:40064498 [GRCh38]
ChrX:39923751 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2333A>G (p.Asp778Gly) single nucleotide variant Inborn genetic diseases [RCV002925525] ChrX:40073013 [GRCh38]
ChrX:39932266 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3919G>C (p.Ala1307Pro) single nucleotide variant Inborn genetic diseases [RCV002692240]|Oculofaciocardiodental syndrome [RCV005099562] ChrX:40063000 [GRCh38]
ChrX:39922253 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.562C>T (p.Arg188Trp) single nucleotide variant not provided [RCV002510138] ChrX:40074784 [GRCh38]
ChrX:39934037 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1184A>G (p.Lys395Arg) single nucleotide variant Inborn genetic diseases [RCV002887835] ChrX:40074162 [GRCh38]
ChrX:39933415 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1233del (p.Lys412fs) deletion Oculofaciocardiodental syndrome [RCV003019962] ChrX:40074113 [GRCh38]
ChrX:39933366 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1321C>T (p.Leu441=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002761151] ChrX:40074025 [GRCh38]
ChrX:39933278 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.935_936delinsCC (p.Gln312Pro) indel not specified [RCV002510375] ChrX:40074410..40074411 [GRCh38]
ChrX:39933663..39933664 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2654C>T (p.Ala885Val) single nucleotide variant Inborn genetic diseases [RCV002827301] ChrX:40072692 [GRCh38]
ChrX:39931945 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.404C>G (p.Ser135Cys) single nucleotide variant Oculofaciocardiodental syndrome [RCV002643909] ChrX:40074942 [GRCh38]
ChrX:39934195 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3119A>T (p.Asp1040Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV002982434] ChrX:40071092 [GRCh38]
ChrX:39930345 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2997+12del deletion Oculofaciocardiodental syndrome [RCV002890244] ChrX:40072337 [GRCh38]
ChrX:39931590 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.2997+12dup duplication Oculofaciocardiodental syndrome [RCV003005114] ChrX:40072336..40072337 [GRCh38]
ChrX:39931589..39931590 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV002623993]|not provided [RCV005425062] ChrX:40064492 [GRCh38]
ChrX:39923745 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.2524G>C (p.Val842Leu) single nucleotide variant Inborn genetic diseases [RCV002787994] ChrX:40072822 [GRCh38]
ChrX:39932075 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.977C>T (p.Pro326Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV002918179] ChrX:40074369 [GRCh38]
ChrX:39933622 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1908C>G (p.Ser636Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV002801601] ChrX:40073438 [GRCh38]
ChrX:39932691 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.986C>G (p.Thr329Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV002801602] ChrX:40074360 [GRCh38]
ChrX:39933613 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3346C>A (p.Pro1116Thr) single nucleotide variant Inborn genetic diseases [RCV002802679] ChrX:40064492 [GRCh38]
ChrX:39923745 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3485G>A (p.Arg1162His) single nucleotide variant Inborn genetic diseases [RCV002719469] ChrX:40064353 [GRCh38]
ChrX:39923606 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3450G>A (p.Glu1150=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003031824] ChrX:40064388 [GRCh38]
ChrX:39923641 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3747G>C (p.Gly1249=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002900243] ChrX:40063708 [GRCh38]
ChrX:39922961 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2275A>C (p.Thr759Pro) single nucleotide variant Inborn genetic diseases [RCV002807531]|not provided [RCV003443145] ChrX:40073071 [GRCh38]
ChrX:39932324 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4578T>C (p.Ser1526=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002600608] ChrX:40057172 [GRCh38]
ChrX:39916425 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2607T>C (p.Tyr869=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003011160] ChrX:40072739 [GRCh38]
ChrX:39931992 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4391A>G (p.Glu1464Gly) single nucleotide variant Inborn genetic diseases [RCV002831106] ChrX:40062176 [GRCh38]
ChrX:39921429 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2551G>T (p.Asp851Tyr) single nucleotide variant Inborn genetic diseases [RCV002809465] ChrX:40072795 [GRCh38]
ChrX:39932048 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.442A>G (p.Ile148Val) single nucleotide variant Inborn genetic diseases [RCV005310913]|Oculofaciocardiodental syndrome [RCV002598897] ChrX:40074904 [GRCh38]
ChrX:39934157 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu) single nucleotide variant Inborn genetic diseases [RCV003170770]|Oculofaciocardiodental syndrome [RCV002963172] ChrX:40053919 [GRCh38]
ChrX:39913172 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.5000C>T (p.Ser1667Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV002585032] ChrX:40052377 [GRCh38]
ChrX:39911630 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3937C>G (p.Pro1313Ala) single nucleotide variant Inborn genetic diseases [RCV002652419] ChrX:40062982 [GRCh38]
ChrX:39922235 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4262G>A (p.Arg1421His) single nucleotide variant Oculofaciocardiodental syndrome [RCV002588663] ChrX:40062305 [GRCh38]
ChrX:39921558 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2235G>A (p.Arg745=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003072515] ChrX:40073111 [GRCh38]
ChrX:39932364 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2691G>T (p.Ser897=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002610975]|not provided [RCV003435881] ChrX:40072655 [GRCh38]
ChrX:39931908 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.2091C>G (p.Ala697=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003050517] ChrX:40073255 [GRCh38]
ChrX:39932508 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3689G>C (p.Gly1230Ala) single nucleotide variant Inborn genetic diseases [RCV003211730] ChrX:40063766 [GRCh38]
ChrX:39923019 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1553A>G (p.Glu518Gly) single nucleotide variant not provided [RCV003228522] ChrX:40073793 [GRCh38]
ChrX:39933046 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3239-6C>T single nucleotide variant Oculofaciocardiodental syndrome [RCV003622384] ChrX:40064605 [GRCh38]
ChrX:39923858 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2008C>A (p.Pro670Thr) single nucleotide variant not provided [RCV003319839] ChrX:40073338 [GRCh38]
ChrX:39932591 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1589A>C (p.Lys530Thr) single nucleotide variant Inborn genetic diseases [RCV003356352] ChrX:40073757 [GRCh38]
ChrX:39933010 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3897C>A (p.Thr1299=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003623253] ChrX:40063022 [GRCh38]
ChrX:39922275 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4165G>A (p.Asp1389Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV003511357] ChrX:40062754 [GRCh38]
ChrX:39922007 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3978A>G (p.Glu1326=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003623245] ChrX:40062941 [GRCh38]
ChrX:39922194 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4406_4412del (p.Arg1469fs) deletion Oculofaciocardiodental syndrome [RCV003623456] ChrX:40062155..40062161 [GRCh38]
ChrX:39921408..39921414 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.3834T>C (p.Ser1278=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003623621] ChrX:40063621 [GRCh38]
ChrX:39922874 [GRCh37]
ChrX:Xp11.4		 likely benign
GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1 copy number loss not provided [RCV003483418] ChrX:24633854..44236178 [GRCh37]
ChrX:Xp22.11-11.3		 pathogenic
NM_001123385.2(BCOR):c.4741+8A>G single nucleotide variant Oculofaciocardiodental syndrome [RCV003622704] ChrX:40055360 [GRCh38]
ChrX:39914613 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2500A>G (p.Ser834Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV003622833] ChrX:40072846 [GRCh38]
ChrX:39932099 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22		 pathogenic
NM_001123385.2(BCOR):c.3648_3656del (p.Arg1217_Glu1219del) deletion Oculofaciocardiodental syndrome [RCV003623198] ChrX:40063799..40063807 [GRCh38]
ChrX:39923052..39923060 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.456G>A (p.Pro152=) single nucleotide variant BCOR-related disorder [RCV004554288]|Oculofaciocardiodental syndrome [RCV003623238] ChrX:40074890 [GRCh38]
ChrX:39934143 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2188A>T (p.Ile730Leu) single nucleotide variant BCOR-related disorder [RCV004552586]|Oculofaciocardiodental syndrome [RCV005099954] ChrX:40073158 [GRCh38]
ChrX:39932411 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4943C>G (p.Pro1648Arg) single nucleotide variant not provided [RCV003438079] ChrX:40053919 [GRCh38]
ChrX:39913172 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2199G>A (p.Thr733=) single nucleotide variant not provided [RCV003438088] ChrX:40073147 [GRCh38]
ChrX:39932400 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1563T>A (p.Asn521Lys) single nucleotide variant not provided [RCV003438089] ChrX:40073783 [GRCh38]
ChrX:39933036 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123383.1(BCOR):c.-40-27233dup duplication not provided [RCV003438092] ChrX:40105201..40105202 [GRCh38]
ChrX:39964454..39964455 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2581C>T (p.Arg861Cys) single nucleotide variant not provided [RCV003438087] ChrX:40072765 [GRCh38]
ChrX:39932018 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.777G>A (p.Ser259=) single nucleotide variant not provided [RCV003438091] ChrX:40074569 [GRCh38]
ChrX:39933822 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2150A>G (p.Gln717Arg) single nucleotide variant BCOR-related disorder [RCV004550752] ChrX:40073196 [GRCh38]
ChrX:39932449 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2172G>C (p.Met724Ile) single nucleotide variant BCOR-related disorder [RCV004550684] ChrX:40073174 [GRCh38]
ChrX:39932427 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2351A>T (p.Asn784Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV003511040] ChrX:40072995 [GRCh38]
ChrX:39932248 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1231C>T (p.Arg411Trp) single nucleotide variant Oculofaciocardiodental syndrome [RCV003486025] ChrX:40074115 [GRCh38]
ChrX:39933368 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3246T>C (p.Tyr1082=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003509121] ChrX:40064592 [GRCh38]
ChrX:39923845 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.111C>T (p.Asp37=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003509398] ChrX:40076508 [GRCh38]
ChrX:39935761 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.3917A>T (p.Gln1306Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV003881659] ChrX:40063002 [GRCh38]
ChrX:39922255 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.563G>A (p.Arg188Gln) single nucleotide variant Oculofaciocardiodental syndrome [RCV003511012] ChrX:40074783 [GRCh38]
ChrX:39934036 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV003486026] ChrX:40074357 [GRCh38]
ChrX:39933610 [GRCh37]
ChrX:Xp11.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001123385.2(BCOR):c.831G>A (p.Pro277=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003509159] ChrX:40074515 [GRCh38]
ChrX:39933768 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs) duplication Oculofaciocardiodental syndrome [RCV003509420] ChrX:40071022..40071023 [GRCh38]
ChrX:39930275..39930276 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1024C>G (p.Arg342Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV003510817] ChrX:40074322 [GRCh38]
ChrX:39933575 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4560C>T (p.Gly1520=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003511001] ChrX:40057190 [GRCh38]
ChrX:39916443 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.3090_3091del (p.Glu1032fs) deletion Oculofaciocardiodental syndrome [RCV003485932] ChrX:40071120..40071121 [GRCh38]
ChrX:39930373..39930374 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1912A>G (p.Ile638Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV003621904] ChrX:40073434 [GRCh38]
ChrX:39932687 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4595+9T>G single nucleotide variant Oculofaciocardiodental syndrome [RCV003845794] ChrX:40057146 [GRCh38]
ChrX:39916399 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1034T>A (p.Leu345His) single nucleotide variant Oculofaciocardiodental syndrome [RCV003622033] ChrX:40074312 [GRCh38]
ChrX:39933565 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1901C>A (p.Pro634Gln) single nucleotide variant Oculofaciocardiodental syndrome [RCV003622088] ChrX:40073445 [GRCh38]
ChrX:39932698 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3052-13G>A single nucleotide variant Oculofaciocardiodental syndrome [RCV003858939] ChrX:40071172 [GRCh38]
ChrX:39930425 [GRCh37]
ChrX:Xp11.4		 benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
NM_001123385.2(BCOR):c.1987C>A (p.Pro663Thr) single nucleotide variant Oculofaciocardiodental syndrome [RCV003622062] ChrX:40073359 [GRCh38]
ChrX:39932612 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_001123385.2(BCOR):c.4173+8T>C single nucleotide variant Oculofaciocardiodental syndrome [RCV003870733] ChrX:40062738 [GRCh38]
ChrX:39921991 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.5029T>C (p.Ser1677Pro) single nucleotide variant Oculofaciocardiodental syndrome [RCV003822070] ChrX:40052348 [GRCh38]
ChrX:39911601 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1557G>C (p.Glu519Asp) single nucleotide variant Oculofaciocardiodental syndrome [RCV003622273] ChrX:40073789 [GRCh38]
ChrX:39933042 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4533C>T (p.Asn1511=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003622046] ChrX:40057217 [GRCh38]
ChrX:39916470 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3758C>T (p.Thr1253Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV003841094] ChrX:40063697 [GRCh38]
ChrX:39922950 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2060C>G (p.Pro687Arg) single nucleotide variant Inborn genetic diseases [RCV004418912] ChrX:40073286 [GRCh38]
ChrX:39932539 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001123385.2(BCOR):c.761G>A (p.Gly254Asp) single nucleotide variant Oculofaciocardiodental syndrome [RCV001908130] ChrX:40074585 [GRCh38]
ChrX:39933838 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4550T>C (p.Leu1517Pro) single nucleotide variant Oculofaciocardiodental syndrome [RCV002050543] ChrX:40057200 [GRCh38]
ChrX:39916453 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4770TGA[2] (p.Asp1593del) microsatellite Oculofaciocardiodental syndrome [RCV001935329] ChrX:40054297..40054299 [GRCh38]
ChrX:39913550..39913552 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3266G>A (p.Arg1089His) single nucleotide variant Oculofaciocardiodental syndrome [RCV001921189] ChrX:40064572 [GRCh38]
ChrX:39923825 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3392G>A (p.Arg1131Gln) single nucleotide variant Oculofaciocardiodental syndrome [RCV001924760] ChrX:40064446 [GRCh38]
ChrX:39923699 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.5003_5005del (p.Asp1668del) deletion Oculofaciocardiodental syndrome [RCV001901051] ChrX:40052372..40052374 [GRCh38]
ChrX:39911625..39911627 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.267C>G (p.Val89=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002165330] ChrX:40075079 [GRCh38]
ChrX:39934332 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1578G>A (p.Ser526=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002221115] ChrX:40073768 [GRCh38]
ChrX:39933021 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4173+13C>A single nucleotide variant Oculofaciocardiodental syndrome [RCV002140567] ChrX:40062733 [GRCh38]
ChrX:39921986 [GRCh37]
ChrX:Xp11.4		 likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_001123385.2(BCOR):c.2851G>C (p.Asp951His) single nucleotide variant not provided [RCV002274510] ChrX:40072495 [GRCh38]
ChrX:39931748 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 copy number gain not provided [RCV002474503] ChrX:39525562..52832596 [GRCh37]
ChrX:Xp11.4-11.22		 pathogenic
NM_001123385.2(BCOR):c.1782_1787delinsGTG (p.Ile595_Gln596delinsTrp) indel not provided [RCV003149240] ChrX:40073559..40073564 [GRCh38]
ChrX:39932812..39932817 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2461G>A (p.Val821Met) single nucleotide variant Oculofaciocardiodental syndrome [RCV002970636] ChrX:40072885 [GRCh38]
ChrX:39932138 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg) single nucleotide variant Inborn genetic diseases [RCV002994377]|Oculofaciocardiodental syndrome [RCV002994378] ChrX:40072950 [GRCh38]
ChrX:39932203 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.558T>G (p.Tyr186Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV002463427] ChrX:40074788 [GRCh38]
ChrX:39934041 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.2764A>G (p.Lys922Glu) single nucleotide variant Inborn genetic diseases [RCV002682358] ChrX:40072582 [GRCh38]
ChrX:39931835 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3407G>A (p.Arg1136His) single nucleotide variant Oculofaciocardiodental syndrome [RCV002970783] ChrX:40064431 [GRCh38]
ChrX:39923684 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4123C>T (p.Arg1375Trp) single nucleotide variant Oculofaciocardiodental syndrome [RCV003095414] ChrX:40062796 [GRCh38]
ChrX:39922049 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4742-2A>G single nucleotide variant Oculofaciocardiodental syndrome [RCV003037535] ChrX:40054335 [GRCh38]
ChrX:39913588 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.87-19G>A single nucleotide variant Oculofaciocardiodental syndrome [RCV002785614] ChrX:40076551 [GRCh38]
ChrX:39935804 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4778_4780del (p.Asp1593del) deletion not provided [RCV002510016] ChrX:40054295..40054297 [GRCh38]
ChrX:39913548..39913550 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.526C>T (p.Gln176Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV002795947] ChrX:40074820 [GRCh38]
ChrX:39934073 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.1552G>A (p.Glu518Lys) single nucleotide variant Inborn genetic diseases [RCV002822253] ChrX:40073794 [GRCh38]
ChrX:39933047 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4281A>T (p.Pro1427=) single nucleotide variant BCOR-related disorder [RCV004550346]|Oculofaciocardiodental syndrome [RCV003022767] ChrX:40062286 [GRCh38]
ChrX:39921539 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.3782G>C (p.Arg1261Thr) single nucleotide variant Inborn genetic diseases [RCV002697532] ChrX:40063673 [GRCh38]
ChrX:39922926 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.59T>C (p.Val20Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV002625212] ChrX:40077871 [GRCh38]
ChrX:39937124 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2691G>A (p.Ser897=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002715440] ChrX:40072655 [GRCh38]
ChrX:39931908 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1449G>A (p.Pro483=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003065385] ChrX:40073897 [GRCh38]
ChrX:39933150 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.877G>A (p.Val293Ile) single nucleotide variant Inborn genetic diseases [RCV004965249] ChrX:40074469 [GRCh38]
ChrX:39933722 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3728C>G (p.Pro1243Arg) single nucleotide variant Inborn genetic diseases [RCV004965255] ChrX:40063727 [GRCh38]
ChrX:39922980 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3936A>G (p.Ala1312=) single nucleotide variant Oculofaciocardiodental syndrome [RCV002676816] ChrX:40062983 [GRCh38]
ChrX:39922236 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4316C>T (p.Ser1439Phe) single nucleotide variant Inborn genetic diseases [RCV004965250] ChrX:40062251 [GRCh38]
ChrX:39921504 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4327A>G (p.Thr1443Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV002584719] ChrX:40062240 [GRCh38]
ChrX:39921493 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2140G>C (p.Val714Leu) single nucleotide variant Inborn genetic diseases [RCV002723769] ChrX:40073206 [GRCh38]
ChrX:39932459 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2011C>T (p.Leu671Phe) single nucleotide variant not provided [RCV004777437] ChrX:40073335 [GRCh38]
ChrX:39932588 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser) single nucleotide variant BCOR-related disorder [RCV004554047]|Oculofaciocardiodental syndrome [RCV003143762] ChrX:40063671 [GRCh38]
ChrX:39922924 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3948G>C (p.Arg1316Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV003143763] ChrX:40062971 [GRCh38]
ChrX:39922224 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2172G>T (p.Met724Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV003143764] ChrX:40073174 [GRCh38]
ChrX:39932427 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.650T>C (p.Met217Thr) single nucleotide variant not provided [RCV003221636] ChrX:40074696 [GRCh38]
ChrX:39933949 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3944C>G (p.Ser1315Cys) single nucleotide variant not provided [RCV003319906] ChrX:40062975 [GRCh38]
ChrX:39922228 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3836A>G (p.Asp1279Gly) single nucleotide variant Inborn genetic diseases [RCV003286891] ChrX:40063619 [GRCh38]
ChrX:39922872 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3331C>G (p.Pro1111Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV003397180] ChrX:40064507 [GRCh38]
ChrX:39923760 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.112G>A (p.Ala38Thr) single nucleotide variant Oculofaciocardiodental syndrome [RCV003338134] ChrX:40076507 [GRCh38]
ChrX:39935760 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV003335810] ChrX:40072363 [GRCh38]
ChrX:39931616 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1526G>A (p.Trp509Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV003387553] ChrX:40073820 [GRCh38]
ChrX:39933073 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.3635_3638dup (p.Leu1214fs) duplication Oculofaciocardiodental syndrome [RCV003333327] ChrX:40063816..40063817 [GRCh38]
ChrX:39923069..39923070 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.3648_3933del286insGCT (p.Arg1217fs) indel Oculofaciocardiodental syndrome [RCV003623237] ChrX:40062986..40063807 [GRCh38]
ChrX:39922239..39923060 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.2460C>T (p.Asn820=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003623336] ChrX:40072886 [GRCh38]
ChrX:39932139 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.793A>G (p.Met265Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV003623714] ChrX:40074553 [GRCh38]
ChrX:39933806 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3225C>T (p.Asn1075=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003623816]|not specified [RCV004801386] ChrX:40070986 [GRCh38]
ChrX:39930239 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.2265C>T (p.Tyr755=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003623857] ChrX:40073081 [GRCh38]
ChrX:39932334 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.821dup (p.Ala275fs) duplication Oculofaciocardiodental syndrome [RCV003622738] ChrX:40074524..40074525 [GRCh38]
ChrX:39933777..39933778 [GRCh37]
ChrX:Xp11.4		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
NM_001123385.2(BCOR):c.5035A>C (p.Ile1679Leu) single nucleotide variant not provided [RCV003438078] ChrX:40052342 [GRCh38]
ChrX:39911595 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2646T>C (p.Ser882=) single nucleotide variant not provided [RCV003438085] ChrX:40072700 [GRCh38]
ChrX:39931953 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2609C>G (p.Thr870Ser) single nucleotide variant not provided [RCV003438086] ChrX:40072737 [GRCh38]
ChrX:39931990 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4905T>C (p.Asp1635=) single nucleotide variant not provided [RCV003438080] ChrX:40053957 [GRCh38]
ChrX:39913210 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4824del (p.Asp1609fs) deletion BCOR-related disorder [RCV004554092] ChrX:40054038 [GRCh38]
ChrX:39913291 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.165+2T>C single nucleotide variant Oculofaciocardiodental syndrome [RCV004795640] ChrX:40076452 [GRCh38]
ChrX:39935705 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.4522G>A (p.Gly1508Ser) single nucleotide variant not provided [RCV003443346] ChrX:40057228 [GRCh38]
ChrX:39916481 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.716C>T (p.Thr239Ile) single nucleotide variant Anterior segment dysgenesis 8 [RCV003389617] ChrX:40074630 [GRCh38]
ChrX:39933883 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2807C>A (p.Thr936Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV005100072]|not provided [RCV003438083] ChrX:40072539 [GRCh38]
ChrX:39931792 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.1207G>T (p.Ala403Ser) single nucleotide variant not provided [RCV003438090] ChrX:40074139 [GRCh38]
ChrX:39933392 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4468G>A (p.Val1490Ile) single nucleotide variant not provided [RCV003443262] ChrX:40057282 [GRCh38]
ChrX:39916535 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1083T>C (p.Tyr361=) single nucleotide variant not provided [RCV003457593] ChrX:40074263 [GRCh38]
ChrX:39933516 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4694C>T (p.Thr1565Ile) single nucleotide variant not provided [RCV003438081] ChrX:40055415 [GRCh38]
ChrX:39914668 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3664G>T (p.Val1222Leu) single nucleotide variant not provided [RCV003438082] ChrX:40063791 [GRCh38]
ChrX:39923044 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2650C>G (p.Leu884Val) single nucleotide variant not provided [RCV003438084] ChrX:40072696 [GRCh38]
ChrX:39931949 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4140_4141del (p.Glu1382fs) deletion Oculofaciocardiodental syndrome [RCV003509054] ChrX:40062778..40062779 [GRCh38]
ChrX:39922031..39922032 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.2506G>A (p.Glu836Lys) single nucleotide variant Oculofaciocardiodental syndrome [RCV003510461] ChrX:40072840 [GRCh38]
ChrX:39932093 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2421C>A (p.Asp807Glu) single nucleotide variant Oculofaciocardiodental syndrome [RCV003511087] ChrX:40072925 [GRCh38]
ChrX:39932178 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3829C>G (p.Pro1277Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV003510060] ChrX:40063626 [GRCh38]
ChrX:39922879 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4095C>G (p.Thr1365=) single nucleotide variant Oculofaciocardiodental syndrome [RCV003510063] ChrX:40062824 [GRCh38]
ChrX:39922077 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.5027C>T (p.Ser1676Phe) single nucleotide variant not provided [RCV004588960] ChrX:40052350 [GRCh38]
ChrX:39911603 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1595T>C (p.Leu532Ser) single nucleotide variant not provided [RCV004588990] ChrX:40073751 [GRCh38]
ChrX:39933004 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1260T>A (p.Asp420Glu) single nucleotide variant Oculofaciocardiodental syndrome [RCV003815835] ChrX:40074086 [GRCh38]
ChrX:39933339 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3893C>T (p.Ser1298Phe) single nucleotide variant BCOR-related disorder [RCV004554314]|Oculofaciocardiodental syndrome [RCV003622103] ChrX:40063026 [GRCh38]
ChrX:39922279 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001123385.2(BCOR):c.3848-20G>A single nucleotide variant Oculofaciocardiodental syndrome [RCV003622219] ChrX:40063091 [GRCh38]
ChrX:39922344 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4976+17T>C single nucleotide variant Oculofaciocardiodental syndrome [RCV003852948] ChrX:40053869 [GRCh38]
ChrX:39913122 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2917G>A (p.Val973Met) single nucleotide variant Oculofaciocardiodental syndrome [RCV003867240] ChrX:40072429 [GRCh38]
ChrX:39931682 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1306G>A (p.Val436Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV003867951] ChrX:40074040 [GRCh38]
ChrX:39933293 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3801C>G (p.Asn1267Lys) single nucleotide variant BCOR-related disorder [RCV004548825] ChrX:40063654 [GRCh38]
ChrX:39922907 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1074C>G (p.His358Gln) single nucleotide variant Inborn genetic diseases [RCV004418910] ChrX:40074272 [GRCh38]
ChrX:39933525 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2364C>G (p.Asn788Lys) single nucleotide variant Inborn genetic diseases [RCV004418913] ChrX:40072982 [GRCh38]
ChrX:39932235 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4099C>T (p.His1367Tyr) single nucleotide variant Inborn genetic diseases [RCV004418916] ChrX:40062820 [GRCh38]
ChrX:39922073 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.5041C>T (p.Arg1681Cys) single nucleotide variant Inborn genetic diseases [RCV004418919] ChrX:40052336 [GRCh38]
ChrX:39911589 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1779C>T (p.Ser593=) single nucleotide variant BCOR-related disorder [RCV004552778] ChrX:40073567 [GRCh38]
ChrX:39932820 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.86+6T>C single nucleotide variant BCOR-related disorder [RCV004554354] ChrX:40077838 [GRCh38]
ChrX:39937091 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4500_4504del (p.Ala1500_Leu1501insTer) deletion not provided [RCV003887198] ChrX:40057246..40057250 [GRCh38]
ChrX:39916499..39916503 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.820C>G (p.Pro274Ala) single nucleotide variant BCOR-related disorder [RCV004550973] ChrX:40074526 [GRCh38]
ChrX:39933779 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4908G>A (p.Val1636=) single nucleotide variant BCOR-related disorder [RCV004548851] ChrX:40053954 [GRCh38]
ChrX:39913207 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1111G>C (p.Ala371Pro) single nucleotide variant BCOR-related disorder [RCV004548970] ChrX:40074235 [GRCh38]
ChrX:39933488 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3232G>T (p.Glu1078Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV004555226] ChrX:40070979 [GRCh38]
ChrX:39930232 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.3120C>T (p.Asp1040=) single nucleotide variant BCOR-related disorder [RCV004550842] ChrX:40071091 [GRCh38]
ChrX:39930344 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3348C>T (p.Pro1116=) single nucleotide variant BCOR-related disorder [RCV004550891]|not provided [RCV005242467] ChrX:40064490 [GRCh38]
ChrX:39923743 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.5052T>G (p.Phe1684Leu) single nucleotide variant not provided [RCV003887138] ChrX:40052325 [GRCh38]
ChrX:39911578 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4891G>A (p.Asp1631Asn) single nucleotide variant BCOR-related disorder [RCV004548905]|Oculofaciocardiodental syndrome [RCV005101597]|not provided [RCV005412616] ChrX:40053971 [GRCh38]
ChrX:39913224 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001123385.2(BCOR):c.590_591del (p.Glu197fs) deletion BCOR-related disorder [RCV004548932] ChrX:40074755..40074756 [GRCh38]
ChrX:39934008..39934009 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.2457_2476delinsTC (p.Asn820_Phe826delinsLeu) indel not provided [RCV004547179] ChrX:40072870..40072889 [GRCh38]
ChrX:39932123..39932142 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2382del (p.Lys795fs) deletion Oculofaciocardiodental syndrome [RCV004577693] ChrX:40072964 [GRCh38]
ChrX:39932217 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1660A>T (p.Ile554Phe) single nucleotide variant Oculofaciocardiodental syndrome [RCV004560362] ChrX:40073686 [GRCh38]
ChrX:39932939 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3914dup (p.Gln1306fs) duplication Oculofaciocardiodental syndrome [RCV004577435] ChrX:40063004..40063005 [GRCh38]
ChrX:39922257..39922258 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.4902C>A (p.Ser1634Arg) single nucleotide variant not provided [RCV004592084] ChrX:40053960 [GRCh38]
ChrX:39913213 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.473G>C (p.Ser158Thr) single nucleotide variant Oculofaciocardiodental syndrome [RCV004594900] ChrX:40074873 [GRCh38]
ChrX:39934126 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.2545_2623del (p.His849fs) deletion Oculofaciocardiodental syndrome [RCV004594898] ChrX:40072723..40072801 [GRCh38]
ChrX:39931976..39932054 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.3090_3093dup (p.Glu1032fs) microsatellite BCOR-related disorder [RCV004737767] ChrX:40071117..40071118 [GRCh38]
ChrX:39930370..39930371 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.928A>G (p.Ser310Gly) single nucleotide variant not provided [RCV004781112] ChrX:40074418 [GRCh38]
ChrX:39933671 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3848-1G>C single nucleotide variant BCOR-related disorder [RCV004737075] ChrX:40063072 [GRCh38]
ChrX:39922325 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.70G>A (p.Gly24Arg) single nucleotide variant not provided [RCV004766171] ChrX:40077860 [GRCh38]
ChrX:39937113 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2065G>A (p.Gly689Ser) single nucleotide variant not provided [RCV004771950] ChrX:40073281 [GRCh38]
ChrX:39932534 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4648C>T (p.Leu1550Phe) single nucleotide variant not provided [RCV004772478] ChrX:40055461 [GRCh38]
ChrX:39914714 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1516C>T (p.Pro506Ser) single nucleotide variant not provided [RCV004778979] ChrX:40073830 [GRCh38]
ChrX:39933083 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3298C>A (p.Leu1100Ile) single nucleotide variant not provided [RCV004763211] ChrX:40064540 [GRCh38]
ChrX:39923793 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.5032C>G (p.Arg1678Gly) single nucleotide variant not provided [RCV004773640] ChrX:40052345 [GRCh38]
ChrX:39911598 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1922C>T (p.Ser641Phe) single nucleotide variant not provided [RCV004773906] ChrX:40073424 [GRCh38]
ChrX:39932677 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1562A>G (p.Asn521Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV005041779] ChrX:40073784 [GRCh38]
ChrX:39933037 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.52G>A (p.Glu18Lys) single nucleotide variant not provided [RCV004820426] ChrX:40077878 [GRCh38]
ChrX:39937131 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2156C>G (p.Ala719Gly) single nucleotide variant Inborn genetic diseases [RCV004969880] ChrX:40073190 [GRCh38]
ChrX:39932443 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4087_4088del (p.Cys1363fs) microsatellite Inborn genetic diseases [RCV004969881] ChrX:40062831..40062832 [GRCh38]
ChrX:39922084..39922085 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.2513C>A (p.Pro838His) single nucleotide variant Inborn genetic diseases [RCV004969884] ChrX:40072833 [GRCh38]
ChrX:39932086 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1822C>A (p.His608Asn) single nucleotide variant not provided [RCV005054756] ChrX:40073524 [GRCh38]
ChrX:39932777 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1927A>G (p.Asn643Asp) single nucleotide variant Oculofaciocardiodental syndrome [RCV005145897] ChrX:40073419 [GRCh38]
ChrX:39932672 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3848-12dup duplication Oculofaciocardiodental syndrome [RCV005145531] ChrX:40063082..40063083 [GRCh38]
ChrX:39922335..39922336 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.4054G>A (p.Asp1352Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV005174830] ChrX:40062865 [GRCh38]
ChrX:39922118 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3848-1G>A single nucleotide variant Oculofaciocardiodental syndrome [RCV005145758] ChrX:40063072 [GRCh38]
ChrX:39922325 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.1774C>T (p.Pro592Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV005181173] ChrX:40073572 [GRCh38]
ChrX:39932825 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3365C>T (p.Ser1122Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV005198940] ChrX:40064473 [GRCh38]
ChrX:39923726 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4407G>A (p.Arg1469=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005206436] ChrX:40062160 [GRCh38]
ChrX:39921413 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4900A>G (p.Ser1634Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV005076769] ChrX:40053962 [GRCh38]
ChrX:39913215 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.720T>C (p.Asn240=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005137068] ChrX:40074626 [GRCh38]
ChrX:39933879 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1116G>C (p.Leu372=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005176148] ChrX:40074230 [GRCh38]
ChrX:39933483 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3927A>T (p.Pro1309=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005068758] ChrX:40062992 [GRCh38]
ChrX:39922245 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3267T>A (p.Arg1089=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005113227] ChrX:40064571 [GRCh38]
ChrX:39923824 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3051+1G>A single nucleotide variant Oculofaciocardiodental syndrome [RCV005135121] ChrX:40071636 [GRCh38]
ChrX:39930889 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.4564G>A (p.Asp1522Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV005136527] ChrX:40057186 [GRCh38]
ChrX:39916439 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.358C>T (p.Pro120Ser) single nucleotide variant not provided [RCV005250678] ChrX:40074988 [GRCh38]
ChrX:39934241 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2721C>T (p.Ser907=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005181021] ChrX:40072625 [GRCh38]
ChrX:39931878 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3241G>A (p.Glu1081Lys) single nucleotide variant Oculofaciocardiodental syndrome [RCV005177258] ChrX:40064597 [GRCh38]
ChrX:39923850 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4771G>A (p.Asp1591Asn) single nucleotide variant Oculofaciocardiodental syndrome [RCV005143596] ChrX:40054304 [GRCh38]
ChrX:39913557 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1686G>A (p.Ser562=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005141901] ChrX:40073660 [GRCh38]
ChrX:39932913 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3191C>T (p.Ser1064Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV005139607] ChrX:40071020 [GRCh38]
ChrX:39930273 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4571A>G (p.Asn1524Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV005164764] ChrX:40057179 [GRCh38]
ChrX:39916432 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2415C>T (p.Tyr805=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005144533] ChrX:40072931 [GRCh38]
ChrX:39932184 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.870_875del (p.Lys290_Gly292delinsAsn) deletion not provided [RCV005234111] ChrX:40074471..40074476 [GRCh38]
ChrX:39933724..39933729 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2144C>T (p.Thr715Ile) single nucleotide variant Oculofaciocardiodental syndrome [RCV005142704] ChrX:40073202 [GRCh38]
ChrX:39932455 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4428+8C>A single nucleotide variant Oculofaciocardiodental syndrome [RCV005078216] ChrX:40062131 [GRCh38]
ChrX:39921384 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3906C>T (p.Gly1302=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005136726] ChrX:40063013 [GRCh38]
ChrX:39922266 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4982G>A (p.Arg1661Gln) single nucleotide variant Oculofaciocardiodental syndrome [RCV005191124] ChrX:40052395 [GRCh38]
ChrX:39911648 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3581T>G (p.Leu1194Arg) single nucleotide variant not provided [RCV005207437] ChrX:40063874 [GRCh38]
ChrX:39923127 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3239G>C (p.Cys1080Ser) single nucleotide variant Oculofaciocardiodental syndrome [RCV005198694] ChrX:40064599 [GRCh38]
ChrX:39923852 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3239-2A>C single nucleotide variant Oculofaciocardiodental syndrome [RCV005198695] ChrX:40064601 [GRCh38]
ChrX:39923854 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.1233G>A (p.Arg411=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005149856] ChrX:40074113 [GRCh38]
ChrX:39933366 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3308A>C (p.Glu1103Ala) single nucleotide variant Oculofaciocardiodental syndrome [RCV005159004] ChrX:40064530 [GRCh38]
ChrX:39923783 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.64A>C (p.Met22Leu) single nucleotide variant Oculofaciocardiodental syndrome [RCV005189100] ChrX:40077866 [GRCh38]
ChrX:39937119 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4782C>T (p.Ala1594=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005130491] ChrX:40054293 [GRCh38]
ChrX:39913546 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1056C>T (p.Asp352=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005071417] ChrX:40074290 [GRCh38]
ChrX:39933543 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.909C>T (p.Ala303=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005150706] ChrX:40074437 [GRCh38]
ChrX:39933690 [GRCh37]
ChrX:Xp11.4		 benign
NM_001123385.2(BCOR):c.3665_3669dup (p.Ala1224fs) duplication Oculofaciocardiodental syndrome [RCV005124616] ChrX:40063785..40063786 [GRCh38]
ChrX:39923038..39923039 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.2491G>A (p.Val831Ile) single nucleotide variant not provided [RCV005254522] ChrX:40072855 [GRCh38]
ChrX:39932108 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2320A>T (p.Lys774Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV005253301] ChrX:40073026 [GRCh38]
ChrX:39932279 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.1637G>A (p.Arg546His) single nucleotide variant not provided [RCV005416921] ChrX:40073709 [GRCh38]
ChrX:39932962 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3604G>C (p.Gly1202Arg) single nucleotide variant Oculofaciocardiodental syndrome [RCV005417686] ChrX:40063851 [GRCh38]
ChrX:39923104 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4389C>T (p.Gly1463=) single nucleotide variant not provided [RCV005425228] ChrX:40062178 [GRCh38]
ChrX:39921431 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1120A>T (p.Lys374Ter) single nucleotide variant Oculofaciocardiodental syndrome [RCV005412081] ChrX:40074226 [GRCh38]
ChrX:39933479 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.85A>G (p.Arg29Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV005417697] ChrX:40077845 [GRCh38]
ChrX:39937098 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.5143G>A (p.Ala1715Thr) single nucleotide variant not specified [RCV005409103] ChrX:40052234 [GRCh38]
ChrX:39911487 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.5024T>C (p.Met1675Thr) single nucleotide variant not provided [RCV005413120] ChrX:40052353 [GRCh38]
ChrX:39911606 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3020G>T (p.Ser1007Ile) single nucleotide variant not provided [RCV005413818] ChrX:40071668 [GRCh38]
ChrX:39930921 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3873G>A (p.Pro1291=) single nucleotide variant not specified [RCV003994995] ChrX:40063046 [GRCh38]
ChrX:39922299 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4561G>A (p.Ala1521Thr) single nucleotide variant Inborn genetic diseases [RCV004418917] ChrX:40057189 [GRCh38]
ChrX:39916442 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4799dup (p.Tyr1601fs) duplication Oculofaciocardiodental syndrome [RCV003885327] ChrX:40054275..40054276 [GRCh38]
ChrX:39913528..39913529 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.5014A>G (p.Lys1672Glu) single nucleotide variant BCOR-related disorder [RCV004548907] ChrX:40052363 [GRCh38]
ChrX:39911616 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1579C>A (p.Leu527Met) single nucleotide variant Inborn genetic diseases [RCV004418911] ChrX:40073767 [GRCh38]
ChrX:39933020 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3372G>A (p.Met1124Ile) single nucleotide variant Inborn genetic diseases [RCV004418914] ChrX:40064466 [GRCh38]
ChrX:39923719 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3650G>A (p.Arg1217Gln) single nucleotide variant Inborn genetic diseases [RCV004418915] ChrX:40063805 [GRCh38]
ChrX:39923058 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4828G>C (p.Asp1610His) single nucleotide variant Inborn genetic diseases [RCV004418918] ChrX:40054034 [GRCh38]
ChrX:39913287 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.5057A>G (p.Asn1686Ser) single nucleotide variant Inborn genetic diseases [RCV004418920] ChrX:40052320 [GRCh38]
ChrX:39911573 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.5240G>T (p.Ser1747Ile) single nucleotide variant Inborn genetic diseases [RCV004418921] ChrX:40052137 [GRCh38]
ChrX:39911390 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4904A>G (p.Asp1635Gly) single nucleotide variant Oculofaciocardiodental syndrome [RCV003991267] ChrX:40053958 [GRCh38]
ChrX:39913211 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_001123385.2(BCOR):c.3424A>G (p.Ser1142Gly) single nucleotide variant Inborn genetic diseases [RCV004605898] ChrX:40064414 [GRCh38]
ChrX:39923667 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.5129C>A (p.Ser1710Tyr) single nucleotide variant not provided [RCV004592240] ChrX:40052248 [GRCh38]
ChrX:39911501 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3488G>A (p.Arg1163Gln) single nucleotide variant Inborn genetic diseases [RCV004605897] ChrX:40064350 [GRCh38]
ChrX:39923603 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4957_4968delinsTTACCATGTTATAACAT (p.Gln1653fs) indel not provided [RCV004576104] ChrX:40053894..40053905 [GRCh38]
ChrX:39913147..39913158 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.2429G>T (p.Arg810Leu) single nucleotide variant not provided [RCV004598615] ChrX:40072917 [GRCh38]
ChrX:39932170 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4756C>T (p.Leu1586Phe) single nucleotide variant not provided [RCV004729530] ChrX:40054319 [GRCh38]
ChrX:39913572 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1026A>G (p.Arg342=) single nucleotide variant not provided [RCV004811654] ChrX:40074320 [GRCh38]
ChrX:39933573 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.590A>G (p.Glu197Gly) single nucleotide variant BCOR-related disorder [RCV004737705] ChrX:40074756 [GRCh38]
ChrX:39934009 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.793A>T (p.Met265Leu) single nucleotide variant Inborn genetic diseases [RCV004965254] ChrX:40074553 [GRCh38]
ChrX:39933806 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4472A>G (p.Asn1491Ser) single nucleotide variant Inborn genetic diseases [RCV004965253] ChrX:40057278 [GRCh38]
ChrX:39916531 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.472del (p.Ser158fs) deletion Inborn genetic diseases [RCV004965252] ChrX:40074874 [GRCh38]
ChrX:39934127 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.1767A>C (p.Glu589Asp) single nucleotide variant Inborn genetic diseases [RCV004965251] ChrX:40073579 [GRCh38]
ChrX:39932832 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.494C>T (p.Ala165Val) single nucleotide variant BCOR-related disorder [RCV004736783] ChrX:40074852 [GRCh38]
ChrX:39934105 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.4198C>T (p.Arg1400Trp) single nucleotide variant Oculofaciocardiodental syndrome [RCV005049831] ChrX:40062369 [GRCh38]
ChrX:39921622 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1634del (p.Pro545fs) deletion Oculofaciocardiodental syndrome [RCV005049832] ChrX:40073712 [GRCh38]
ChrX:39932965 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001123385.2(BCOR):c.283G>A (p.Gly95Arg) single nucleotide variant not provided [RCV005001751] ChrX:40075063 [GRCh38]
ChrX:39934316 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1 copy number loss not provided [RCV004819405] ChrX:15392463..48777470 [GRCh37]
ChrX:Xp22.2-11.23		 pathogenic
NM_001123385.2(BCOR):c.274del (p.Ser92fs) deletion Oculofaciocardiodental syndrome [RCV005001965] ChrX:40075072 [GRCh38]
ChrX:39934325 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001123385.2(BCOR):c.727C>T (p.Arg243Cys) single nucleotide variant Inborn genetic diseases [RCV004969883]|Oculofaciocardiodental syndrome [RCV005110031] ChrX:40074619 [GRCh38]
ChrX:39933872 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2577G>A (p.Leu859=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005174742] ChrX:40072769 [GRCh38]
ChrX:39932022 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.5096G>A (p.Arg1699Gln) single nucleotide variant Oculofaciocardiodental syndrome [RCV005060155] ChrX:40052281 [GRCh38]
ChrX:39911534 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.1500A>C (p.Glu500Asp) single nucleotide variant Oculofaciocardiodental syndrome [RCV005197003] ChrX:40073846 [GRCh38]
ChrX:39933099 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2997+11C>G single nucleotide variant Oculofaciocardiodental syndrome [RCV005190965] ChrX:40072338 [GRCh38]
ChrX:39931591 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3239-14C>T single nucleotide variant Oculofaciocardiodental syndrome [RCV005136787] ChrX:40064613 [GRCh38]
ChrX:39923866 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3447G>A (p.Ala1149=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005137146] ChrX:40064391 [GRCh38]
ChrX:39923644 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.174G>A (p.Ala58=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005201113] ChrX:40075172 [GRCh38]
ChrX:39934425 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1305C>T (p.Asp435=) single nucleotide variant Oculofaciocardiodental syndrome [RCV005071046] ChrX:40074041 [GRCh38]
ChrX:39933294 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.3920C>T (p.Ala1307Val) single nucleotide variant Oculofaciocardiodental syndrome [RCV005179620] ChrX:40062999 [GRCh38]
ChrX:39922252 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.913C>T (p.Pro305Ser) single nucleotide variant not provided [RCV005368235] ChrX:40074433 [GRCh38]
ChrX:39933686 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2349G>C (p.Lys783Asn) single nucleotide variant Inborn genetic diseases [RCV005314293] ChrX:40072997 [GRCh38]
ChrX:39932250 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.2360C>T (p.Pro787Leu) single nucleotide variant Inborn genetic diseases [RCV005314296] ChrX:40072986 [GRCh38]
ChrX:39932239 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001123385.2(BCOR):c.1261G>A (p.Gly421Ser) single nucleotide variant Inborn genetic diseases [RCV005314294] ChrX:40074085 [GRCh38]
ChrX:39933338 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.3566G>C (p.Ser1189Thr) single nucleotide variant Inborn genetic diseases [RCV005314295] ChrX:40063889 [GRCh38]
ChrX:39923142 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.4241A>G (p.Gln1414Arg) single nucleotide variant Inborn genetic diseases [RCV005305774] ChrX:40062326 [GRCh38]
ChrX:39921579 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001123385.2(BCOR):c.5030C>T (p.Ser1677Phe) single nucleotide variant Inborn genetic diseases [RCV005305775] ChrX:40052347 [GRCh38]
ChrX:39911600 [GRCh37]
ChrX:Xp11.4		 uncertain significance
miRNA Target Status (No longer updated)

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.

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2246 4951 1725 2348 5 622 1948 464 2269 7288 6460 53 3715 851 1740 1614 174 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_001437510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001437511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438208 (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
  XM_047442196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327335 (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
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000342274   ⟹   ENSP00000345923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,248 - 40,177,329 (-)Ensembl
Ensembl Acc Id: ENST00000378444   ⟹   ENSP00000367705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,251 - 40,097,958 (-)Ensembl
Ensembl Acc Id: ENST00000378455   ⟹   ENSP00000367716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,246 - 40,177,329 (-)Ensembl
Ensembl Acc Id: ENST00000378463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,049,815 - 40,068,120 (-)Ensembl
Ensembl Acc Id: ENST00000397354   ⟹   ENSP00000380512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,246 - 40,097,403 (-)Ensembl
Ensembl Acc Id: ENST00000406200   ⟹   ENSP00000384485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,052,109 - 40,097,979 (-)Ensembl
Ensembl Acc Id: ENST00000412952   ⟹   ENSP00000390273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,077,844 - 40,146,629 (-)Ensembl
Ensembl Acc Id: ENST00000413905   ⟹   ENSP00000408006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,049,815 - 40,077,929 (-)Ensembl
Ensembl Acc Id: ENST00000427012   ⟹   ENSP00000403823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,312 - 40,077,929 (-)Ensembl
Ensembl Acc Id: ENST00000442018   ⟹   ENSP00000387552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,255 - 40,077,929 (-)Ensembl
Ensembl Acc Id: ENST00000490976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,071,906 - 40,077,969 (-)Ensembl
Ensembl Acc Id: ENST00000615339   ⟹   ENSP00000483217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,251 - 40,099,167 (-)Ensembl
Ensembl Acc Id: ENST00000672265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,318 - 40,056,233 (-)Ensembl
Ensembl Acc Id: ENST00000672922   ⟹   ENSP00000499892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,254 - 40,177,213 (-)Ensembl
Ensembl Acc Id: ENST00000673391   ⟹   ENSP00000500446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,272 - 40,096,612 (-)Ensembl
Ensembl Acc Id: ENST00000679513   ⟹   ENSP00000505761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX40,051,251 - 40,096,192 (-)Ensembl
Ensembl Acc Id: ENST00000680831   ⟹   ENSP00000505507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X39,452,491 - 39,578,567 (-)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
T2T-CHM13v2.0X39,452,496 - 39,578,515 (-)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
T2T-CHM13v2.0X39,452,496 - 39,499,197 (-)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
T2T-CHM13v2.0X39,452,496 - 39,499,197 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272616   ⟹   XP_005272673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272618   ⟹   XP_005272675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,958 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272619   ⟹   XP_005272676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,958 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272620   ⟹   XP_005272677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,958 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724536   ⟹   XP_006724599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,096,928 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543929   ⟹   XP_011542231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543930   ⟹   XP_011542232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543931   ⟹   XP_011542233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,277 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029615   ⟹   XP_016885104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,188 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029616   ⟹   XP_016885105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,958 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442196   ⟹   XP_047298152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,098,497 (-)NCBI
RefSeq Acc Id: XM_047442197   ⟹   XP_047298153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,099,169 (-)NCBI
RefSeq Acc Id: XM_047442198   ⟹   XP_047298154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,099,159 (-)NCBI
RefSeq Acc Id: XM_047442199   ⟹   XP_047298155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,098,653 (-)NCBI
RefSeq Acc Id: XM_047442200   ⟹   XP_047298156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,096,192 (-)NCBI
RefSeq Acc Id: XM_047442201   ⟹   XP_047298157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,633 (-)NCBI
RefSeq Acc Id: XM_047442202   ⟹   XP_047298158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,329 (-)NCBI
RefSeq Acc Id: XM_047442203   ⟹   XP_047298159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,958 (-)NCBI
RefSeq Acc Id: XM_047442204   ⟹   XP_047298160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,099,159 (-)NCBI
RefSeq Acc Id: XM_047442205   ⟹   XP_047298161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,277 (-)NCBI
RefSeq Acc Id: XM_047442206   ⟹   XP_047298162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,096,754 (-)NCBI
RefSeq Acc Id: XM_047442207   ⟹   XP_047298163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,099,162 (-)NCBI
RefSeq Acc Id: XM_047442208   ⟹   XP_047298164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,633 (-)NCBI
RefSeq Acc Id: XM_047442209   ⟹   XP_047298165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,098,368 (-)NCBI
RefSeq Acc Id: XM_047442210   ⟹   XP_047298166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,633 (-)NCBI
RefSeq Acc Id: XM_047442211   ⟹   XP_047298167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,633 (-)NCBI
RefSeq Acc Id: XM_047442212   ⟹   XP_047298168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,958 (-)NCBI
RefSeq Acc Id: XM_047442213   ⟹   XP_047298169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,277 (-)NCBI
RefSeq Acc Id: XM_047442214   ⟹   XP_047298170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,099,169 (-)NCBI
RefSeq Acc Id: XM_047442215   ⟹   XP_047298171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,096,192 (-)NCBI
RefSeq Acc Id: XM_047442216   ⟹   XP_047298172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,099,164 (-)NCBI
RefSeq Acc Id: XM_047442217   ⟹   XP_047298173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,098,285 (-)NCBI
RefSeq Acc Id: XM_047442218   ⟹   XP_047298174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,098,641 (-)NCBI
RefSeq Acc Id: XM_047442219   ⟹   XP_047298175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,633 (-)NCBI
RefSeq Acc Id: XM_047442220   ⟹   XP_047298176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,097,958 (-)NCBI
RefSeq Acc Id: XM_047442221   ⟹   XP_047298177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,146,633 (-)NCBI
RefSeq Acc Id: XM_047442222   ⟹   XP_047298178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,098,489 (-)NCBI
RefSeq Acc Id: XM_047442223   ⟹   XP_047298179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,177,277 (-)NCBI
RefSeq Acc Id: XM_047442224   ⟹   XP_047298180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,099,159 (-)NCBI
RefSeq Acc Id: XM_047442225   ⟹   XP_047298181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,096,922 (-)NCBI
RefSeq Acc Id: XM_047442226   ⟹   XP_047298182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,096,192 (-)NCBI
RefSeq Acc Id: XM_047442227   ⟹   XP_047298183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,098,639 (-)NCBI
RefSeq Acc Id: XM_047442228   ⟹   XP_047298184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,051,246 - 40,099,234 (-)NCBI
RefSeq Acc Id: XM_054327293   ⟹   XP_054183268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,578,567 (-)NCBI
RefSeq Acc Id: XM_054327294   ⟹   XP_054183269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,547,902 (-)NCBI
RefSeq Acc Id: XM_054327295   ⟹   XP_054183270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,578,496 (-)NCBI
RefSeq Acc Id: XM_054327296   ⟹   XP_054183271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,736 (-)NCBI
RefSeq Acc Id: XM_054327297   ⟹   XP_054183272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,500,408 (-)NCBI
RefSeq Acc Id: XM_054327298   ⟹   XP_054183273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,498,167 (-)NCBI
RefSeq Acc Id: XM_054327299   ⟹   XP_054183274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,500,398 (-)NCBI
RefSeq Acc Id: XM_054327300   ⟹   XP_054183275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,892 (-)NCBI
RefSeq Acc Id: XM_054327301   ⟹   XP_054183276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,547,928 (-)NCBI
RefSeq Acc Id: XM_054327302   ⟹   XP_054183277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,497,426 (-)NCBI
RefSeq Acc Id: XM_054327303   ⟹   XP_054183278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,255 (-)NCBI
RefSeq Acc Id: XM_054327304   ⟹   XP_054183279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,197 (-)NCBI
RefSeq Acc Id: XM_054327305   ⟹   XP_054183280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,547,877 (-)NCBI
RefSeq Acc Id: XM_054327306   ⟹   XP_054183281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,578,567 (-)NCBI
RefSeq Acc Id: XM_054327307   ⟹   XP_054183282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,232 (-)NCBI
RefSeq Acc Id: XM_054327308   ⟹   XP_054183283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,500,398 (-)NCBI
RefSeq Acc Id: XM_054327309   ⟹   XP_054183284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,578,495 (-)NCBI
RefSeq Acc Id: XM_054327310   ⟹   XP_054183285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,497,993 (-)NCBI
RefSeq Acc Id: XM_054327311   ⟹   XP_054183286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,500,401 (-)NCBI
RefSeq Acc Id: XM_054327312   ⟹   XP_054183287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,547,919 (-)NCBI
RefSeq Acc Id: XM_054327313   ⟹   XP_054183288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,607 (-)NCBI
RefSeq Acc Id: XM_054327314   ⟹   XP_054183289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,578,510 (-)NCBI
RefSeq Acc Id: XM_054327315   ⟹   XP_054183290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,500,408 (-)NCBI
RefSeq Acc Id: XM_054327316   ⟹   XP_054183291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,497,435 (-)NCBI
RefSeq Acc Id: XM_054327317   ⟹   XP_054183292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,500,403 (-)NCBI
RefSeq Acc Id: XM_054327318   ⟹   XP_054183293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,524 (-)NCBI
RefSeq Acc Id: XM_054327319   ⟹   XP_054183294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,880 (-)NCBI
RefSeq Acc Id: XM_054327320   ⟹   XP_054183295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,547,923 (-)NCBI
RefSeq Acc Id: XM_054327321   ⟹   XP_054183296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,547,928 (-)NCBI
RefSeq Acc Id: XM_054327322   ⟹   XP_054183297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,276 (-)NCBI
RefSeq Acc Id: XM_054327323   ⟹   XP_054183298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,498,427 (-)NCBI
RefSeq Acc Id: XM_054327324   ⟹   XP_054183299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,197 (-)NCBI
RefSeq Acc Id: XM_054327325   ⟹   XP_054183300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,728 (-)NCBI
RefSeq Acc Id: XM_054327326   ⟹   XP_054183301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,578,494 (-)NCBI
RefSeq Acc Id: XM_054327327   ⟹   XP_054183302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,500,398 (-)NCBI
RefSeq Acc Id: XM_054327328   ⟹   XP_054183303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,498,161 (-)NCBI
RefSeq Acc Id: XM_054327329   ⟹   XP_054183304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,497,426 (-)NCBI
RefSeq Acc Id: XM_054327330   ⟹   XP_054183305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,878 (-)NCBI
RefSeq Acc Id: XM_054327331   ⟹   XP_054183306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,547,928 (-)NCBI
RefSeq Acc Id: XM_054327332   ⟹   XP_054183307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,265 (-)NCBI
RefSeq Acc Id: XM_054327333   ⟹   XP_054183308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,547,919 (-)NCBI
RefSeq Acc Id: XM_054327334   ⟹   XP_054183309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,500,473 (-)NCBI
RefSeq Acc Id: XM_054327335   ⟹   XP_054183310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X39,452,491 - 39,499,197 (-)NCBI
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_001424439 (Get FASTA)   NCBI Sequence Viewer  
  NP_001424440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425136 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425137 (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  
  XP_047298152 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298153 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298154 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298155 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298156 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298157 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298158 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298159 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298160 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298161 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298162 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298163 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298164 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298165 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298166 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298167 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298168 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298169 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298170 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298171 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298172 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298173 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298174 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298175 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298176 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298177 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298178 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298179 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298180 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298181 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298182 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298183 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298184 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183268 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183269 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183270 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183272 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183273 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183274 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183275 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183276 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183277 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183278 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183279 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183280 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183281 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183289 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183290 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183291 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183292 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183293 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183294 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183295 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183296 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183297 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183298 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183299 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183300 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183301 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183302 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183303 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183306 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183307 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183308 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183309 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183310 (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  
Ensembl Protein ENSP00000345923
  ENSP00000345923.4
  ENSP00000367705
  ENSP00000367705.4
  ENSP00000367716
  ENSP00000367716.4
  ENSP00000380512
  ENSP00000380512.3
  ENSP00000384485
  ENSP00000384485.3
  ENSP00000387552
  ENSP00000403823
  ENSP00000408006
  ENSP00000483217
  ENSP00000483217.2
  ENSP00000499892
  ENSP00000499892.2
  ENSP00000500446
  ENSP00000500446.1
  ENSP00000505507
  ENSP00000505507.1
  ENSP00000505761
  ENSP00000505761.1
GenBank Protein Q6W2J9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001116856   ⟸   NM_001123384
- Peptide Label: isoform b
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116855   ⟸   NM_001123383
- Peptide Label: isoform a
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060215   ⟸   NM_017745
- Peptide Label: isoform a
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116857   ⟸   NM_001123385
- Peptide Label: isoform c
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272673   ⟸   XM_005272616
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005272675   ⟸   XM_005272618
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272677   ⟸   XM_005272620
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272676   ⟸   XM_005272619
- Peptide Label: isoform X2
- UniProtKB: H7C231 (UniProtKB/TrEMBL),   H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724599   ⟸   XM_006724536
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542233   ⟸   XM_011543931
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542232   ⟸   XM_011543930
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542231   ⟸   XM_011543929
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885104   ⟸   XM_017029615
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885105   ⟸   XM_017029616
- Peptide Label: isoform X5
- Sequence:
Ensembl Acc Id: ENSP00000500446   ⟸   ENST00000673391
Ensembl Acc Id: ENSP00000390273   ⟸   ENST00000412952
Ensembl Acc Id: ENSP00000403823   ⟸   ENST00000427012
Ensembl Acc Id: ENSP00000408006   ⟸   ENST00000413905
Ensembl Acc Id: ENSP00000387552   ⟸   ENST00000442018
Ensembl Acc Id: ENSP00000367705   ⟸   ENST00000378444
Ensembl Acc Id: ENSP00000367716   ⟸   ENST00000378455
Ensembl Acc Id: ENSP00000483217   ⟸   ENST00000615339
Ensembl Acc Id: ENSP00000384485   ⟸   ENST00000406200
Ensembl Acc Id: ENSP00000345923   ⟸   ENST00000342274
Ensembl Acc Id: ENSP00000380512   ⟸   ENST00000397354
Ensembl Acc Id: ENSP00000499892   ⟸   ENST00000672922
Ensembl Acc Id: ENSP00000505761   ⟸   ENST00000679513
Ensembl Acc Id: ENSP00000505507   ⟸   ENST00000680831
RefSeq Acc Id: XP_047298158   ⟸   XM_047442202
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047298179   ⟸   XM_047442223
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298161   ⟸   XM_047442205
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298169   ⟸   XM_047442213
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298175   ⟸   XM_047442219
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298157   ⟸   XM_047442201
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298166   ⟸   XM_047442210
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047298177   ⟸   XM_047442221
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298164   ⟸   XM_047442208
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298167   ⟸   XM_047442211
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298184   ⟸   XM_047442228
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298153   ⟸   XM_047442197
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298170   ⟸   XM_047442214
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298172   ⟸   XM_047442216
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298163   ⟸   XM_047442207
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298180   ⟸   XM_047442224
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298160   ⟸   XM_047442204
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298154   ⟸   XM_047442198
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298155   ⟸   XM_047442199
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298174   ⟸   XM_047442218
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298183   ⟸   XM_047442227
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298152   ⟸   XM_047442196
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298178   ⟸   XM_047442222
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298165   ⟸   XM_047442209
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298173   ⟸   XM_047442217
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298176   ⟸   XM_047442220
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298159   ⟸   XM_047442203
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298168   ⟸   XM_047442212
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298181   ⟸   XM_047442225
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298162   ⟸   XM_047442206
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298182   ⟸   XM_047442226
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298171   ⟸   XM_047442215
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298156   ⟸   XM_047442200
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183281   ⟸   XM_054327306
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054183268   ⟸   XM_054327293
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183289   ⟸   XM_054327314
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183270   ⟸   XM_054327295
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183284   ⟸   XM_054327309
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183301   ⟸   XM_054327326
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183306   ⟸   XM_054327331
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183296   ⟸   XM_054327321
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183276   ⟸   XM_054327301
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183295   ⟸   XM_054327320
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183308   ⟸   XM_054327333
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183287   ⟸   XM_054327312
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183269   ⟸   XM_054327294
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183280   ⟸   XM_054327305
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183309   ⟸   XM_054327334
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183272   ⟸   XM_054327297
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183290   ⟸   XM_054327315
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183292   ⟸   XM_054327317
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183286   ⟸   XM_054327311
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183302   ⟸   XM_054327327
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183283   ⟸   XM_054327308
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183274   ⟸   XM_054327299
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183275   ⟸   XM_054327300
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183294   ⟸   XM_054327319
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183305   ⟸   XM_054327330
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183271   ⟸   XM_054327296
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183300   ⟸   XM_054327325
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183288   ⟸   XM_054327313
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183293   ⟸   XM_054327318
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183297   ⟸   XM_054327322
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183307   ⟸   XM_054327332
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183278   ⟸   XM_054327303
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183282   ⟸   XM_054327307
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183299   ⟸   XM_054327324
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183279   ⟸   XM_054327304
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183310   ⟸   XM_054327335
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054183298   ⟸   XM_054327323
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183273   ⟸   XM_054327298
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183303   ⟸   XM_054327328
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183285   ⟸   XM_054327310
- Peptide Label: isoform X2
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL),   H7C231 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183291   ⟸   XM_054327316
- Peptide Label: isoform X3
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183304   ⟸   XM_054327329
- Peptide Label: isoform X4
- UniProtKB: H7C2V9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183277   ⟸   XM_054327302
- Peptide Label: isoform X1
- UniProtKB: Q9HCJ7 (UniProtKB/Swiss-Prot),   Q9H233 (UniProtKB/Swiss-Prot),   Q9H232 (UniProtKB/Swiss-Prot),   Q96DB3 (UniProtKB/Swiss-Prot),   Q8TEB4 (UniProtKB/Swiss-Prot),   Q7Z2K7 (UniProtKB/Swiss-Prot),   Q6W2J9 (UniProtKB/Swiss-Prot),   Q6P4B6 (UniProtKB/Swiss-Prot),   Q29RF6 (UniProtKB/Swiss-Prot),   D3DWB4 (UniProtKB/Swiss-Prot),   D3DWB3 (UniProtKB/Swiss-Prot),   Q9NXF2 (UniProtKB/Swiss-Prot),   H7C2V9 (UniProtKB/TrEMBL)
Protein Domains
BCL-6 corepressor non-ankyrin-repeat   BCL-6 corepressor PCGF1 binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6W2J9-F1-model_v2 AlphaFold Q6W2J9 1-1755 view protein structure

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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20893 AgrOrtholog
COSMIC BCOR COSMIC
Ensembl Genes ENSG00000183337 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342274 ENTREZGENE
  ENST00000342274.8 UniProtKB/Swiss-Prot
  ENST00000378444 ENTREZGENE
  ENST00000378444.9 UniProtKB/Swiss-Prot
  ENST00000378455 ENTREZGENE
  ENST00000378455.8 UniProtKB/Swiss-Prot
  ENST00000397354 ENTREZGENE
  ENST00000397354.7 UniProtKB/Swiss-Prot
  ENST00000406200 ENTREZGENE
  ENST00000406200.4 UniProtKB/Swiss-Prot
  ENST00000413905 ENTREZGENE
  ENST00000427012 ENTREZGENE
  ENST00000442018 ENTREZGENE
  ENST00000615339 ENTREZGENE
  ENST00000615339.2 UniProtKB/Swiss-Prot
  ENST00000672922 ENTREZGENE
  ENST00000672922.2 UniProtKB/Swiss-Prot
  ENST00000673391 ENTREZGENE
  ENST00000673391.1 UniProtKB/Swiss-Prot
  ENST00000679513 ENTREZGENE
  ENST00000679513.1 UniProtKB/Swiss-Prot
  ENST00000680831 ENTREZGENE
  ENST00000680831.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
  3.10.260.40 UniProtKB/Swiss-Prot
GTEx ENSG00000183337 GTEx
HGNC ID HGNC:20893 ENTREZGENE
Human Proteome Map BCOR Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
  BCOR UniProtKB/Swiss-Prot
  BCOR-like UniProtKB/Swiss-Prot
  PUFD UniProtKB/Swiss-Prot
  PUFD_som_sf UniProtKB/Swiss-Prot
KEGG Report hsa:54880 UniProtKB/Swiss-Prot
NCBI Gene 54880 ENTREZGENE
OMIM 300485 OMIM
PANTHER AGAP007537-PB UniProtKB/Swiss-Prot
  BCL-6 COREPRESSOR UniProtKB/Swiss-Prot
Pfam Ank_2 UniProtKB/Swiss-Prot
  BCOR UniProtKB/Swiss-Prot
  PUFD UniProtKB/Swiss-Prot
PharmGKB PA134921737 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
UniProt A0A5F9ZGX7_HUMAN UniProtKB/TrEMBL
  A1A564_HUMAN UniProtKB/TrEMBL
  BCOR_HUMAN UniProtKB/Swiss-Prot
  C9JHP3_HUMAN UniProtKB/TrEMBL
  D3DWB3 ENTREZGENE
  D3DWB4 ENTREZGENE
  H7BYY2_HUMAN UniProtKB/TrEMBL
  H7BZ37 ENTREZGENE, UniProtKB/TrEMBL
  H7C231 ENTREZGENE, UniProtKB/TrEMBL
  H7C2V9 ENTREZGENE, UniProtKB/TrEMBL
  Q29RF6 ENTREZGENE
  Q6P4B6 ENTREZGENE
  Q6W2J9 ENTREZGENE
  Q7Z2K7 ENTREZGENE
  Q8TEB4 ENTREZGENE
  Q96DB3 ENTREZGENE
  Q9H232 ENTREZGENE
  Q9H233 ENTREZGENE
  Q9HCJ7 ENTREZGENE
  Q9NXF2 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
2011-07-27 BCOR  BCL6 corepressor  BCOR  BCL6 co-repressor  Symbol and/or name change 5135510 APPROVED