IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) - Rat Genome Database

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Gene: IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) Homo sapiens
Analyze
Symbol: IKBKG
Name: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
RGD ID: 1347094
HGNC Page HGNC:5961
Description: Enables several functions, including K63-linked polyubiquitin modification-dependent protein binding activity; linear polyubiquitin binding activity; and protein dimerization activity. Involved in several processes, including canonical NF-kappaB signal transduction; positive regulation of T cell receptor signaling pathway; and regulation of DNA-templated transcription. Acts upstream of or within positive regulation of canonical NF-kappaB signal transduction. Located in cytoplasm; nucleus; and spindle. Part of IkappaB kinase complex and ubiquitin ligase complex. Is active in cytosol. Implicated in Behcet's disease; Bloch-Sulzberger syndrome; X-linked recessive disease (multiple); learning disability; and liver cancer. Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 14.7K (adenovirus E3 protein) interacting protein 3; AMCBX1; EDAID1; FIP-3; FIP3; Fip3p; I-kappa-B kinase subunit gamma; IkB kinase gamma subunit; ikB kinase subunit gamma; ikB kinase-associated protein 1; IKK-gamma; IKKAP1; IKKG; IMD33; incontinentia pigmenti; incontinentia pigmenti 1 (sporadic, associated with X chromosome rearrangements); incontinentia pigmenti 2 (familial, male-lethal type); inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma; inhibitor of nuclear factor kappa B kinase subunit gamma; inhibitor of nuclear factor kappa-B kinase subunit gamma; IP; IP1; IP2; IPD2; NEMO; NF-kappa-B essential modifier; NF-kappa-B essential modulator; NFkappaB essential modulator; SAIDX; ZC2HC9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: IKBKGP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,541,238 - 154,565,046 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,541,199 - 154,565,046 (+)EnsemblGRCh38hg38GRCh38
GRCh37X153,769,453 - 153,793,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,423,653 - 153,446,455 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X153,339,765 - 153,356,964NCBI
CeleraX153,931,508 - 153,953,200 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,346,885 - 142,356,952 (+)NCBIHuRef
CHM1_1X153,682,228 - 153,705,030 (+)NCBICHM1_1
T2T-CHM13v2.0X152,777,621 - 152,801,428 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-taxifolin  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-benzofuran  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-nitrophenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (ISO)
cannabidiol  (EXP)
capsiate  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
carnosic acid  (EXP)
chloroprene  (ISO)
chloroquine  (EXP)
chlorpromazine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
curcumin  (EXP)
cycloastragenol  (ISO)
Decursin  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethyl maleate  (ISO)
dioxygen  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flutamide  (ISO)
FR900359  (EXP)
furan  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
ivermectin  (EXP)
lead diacetate  (EXP)
lipopolysaccharide  (EXP)
methotrexate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
naphthalene-1,5-diamine  (ISO)
niclosamide  (EXP)
o-anisidine  (EXP)
orphenadrine  (ISO)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
PCB138  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
potassium chromate  (EXP)
progesterone  (ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sulforaphane  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
trichloroethene  (ISO)
triptonide  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,TAS)
IkappaB kinase complex  (IBA,IDA,IPI,ISO,TAS)
mitotic spindle  (IDA)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA)
protein-containing complex  (IDA)
spindle pole  (IDA)
ubiquitin ligase complex  (IPI)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal chorioretinal morphology  (IAGP)
Abnormal circulating IgG concentration  (IAGP)
Abnormal circulating immunoglobulin concentration  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormal hand morphology  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of immune system physiology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Absent hand  (IAGP)
Absent peripheral lymph nodes in presence of infection  (IAGP)
Alopecia  (IAGP)
Anterior uveitis  (IAGP)
Aplasia of the eccrine sweat glands  (IAGP)
Asymmetric growth  (IAGP)
Atrophic, patchy alopecia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autoimmunity  (IAGP)
B lymphocytopenia  (IAGP)
Blue sclerae  (IAGP)
Breast aplasia  (IAGP)
Breast hypoplasia  (IAGP)
Broad nail  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral hemorrhage  (IAGP)
Cerebral ischemia  (IAGP)
Chorioretinitis  (IAGP)
Chronic diarrhea  (IAGP)
Chronic mucocutaneous candidiasis  (IAGP)
Coarse hair  (IAGP)
Cognitive impairment  (IAGP)
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Conical incisor  (IAGP)
Conical tooth  (IAGP)
Corneal opacity  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased circulating IgA concentration  (IAGP)
Decreased circulating IgG concentration  (IAGP)
Decreased circulating total IgM  (IAGP)
Delayed eruption of teeth  (IAGP)
Deviation of finger  (IAGP)
Disseminated nontuberculous mycobacterial infection  (IAGP)
Dysgammaglobulinemia  (IAGP)
Dystrophic toenail  (IAGP)
Ectodermal dysplasia  (IAGP)
Eczematoid dermatitis  (IAGP)
Eosinophilia  (IAGP)
Erythema  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Genital edema  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hemivertebrae  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hypodontia  (IAGP)
Hypohidrosis  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypopituitarism  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic nipples  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Increased B cell count  (IAGP)
Increased circulating IgA concentration  (IAGP)
Increased circulating IgE concentration  (IAGP)
Increased circulating IgG concentration  (IAGP)
Increased circulating IgM level  (IAGP)
Increased T cell count  (IAGP)
Infantile onset  (IAGP)
Infectious encephalitis  (IAGP)
Inflammation of the large intestine  (IAGP)
Intellectual disability  (IAGP)
Invasive fungal infection  (IAGP)
Irregular hyperpigmentation  (IAGP)
Keratitis  (IAGP)
Kyphoscoliosis  (IAGP)
Leukocytosis  (IAGP)
Lymphedema  (IAGP)
Maculopapular exanthema  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Molluscum contagiosum  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Nail pits  (IAGP)
Neutropenia  (IAGP)
Oligodontia  (IAGP)
Onychogryposis  (IAGP)
Optic atrophy  (IAGP)
Optic neuritis  (IAGP)
Orofacial cleft  (IAGP)
Osteolysis  (IAGP)
Osteomyelitis  (IAGP)
Osteopenia  (IAGP)
Pallor  (IAGP)
Panniculitis  (IAGP)
Panuveitis  (IAGP)
Pedal edema  (IAGP)
Pneumocystis jirovecii pneumonia  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent sinusitis  (IAGP)
Reduced natural killer cell activity  (IAGP)
Retinal detachment  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal vascular proliferation  (IAGP)
Ridged fingernail  (IAGP)
Ridged nail  (IAGP)
Scarring  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe cytomegalovirus infection  (IAGP)
Severe viral infection  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Skin ulcer  (IAGP)
Sparse hair  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Spina bifida occulta  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Supernumerary nipple  (IAGP)
Supernumerary ribs  (IAGP)
Telangiectasia of the skin  (IAGP)
Umbilical hernia  (IAGP)
Uveitis  (IAGP)
Verrucae  (IAGP)
Visual impairment  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. NEMO expression in human hepatocellular carcinoma and its association with clinical outcome. Aigelsreiter A, etal., Hum Pathol. 2012 Jul;43(7):1012-9. doi: 10.1016/j.humpath.2011.08.009. Epub 2011 Dec 15.
2. Inflammatory related gene IKKα, IKKβ, IKKγ cooperates to determine liver cancer stem cells progression by altering telomere via heterochromatin protein 1-HOTAIR axis. An J, etal., Oncotarget. 2016 Aug 2;7(31):50131-50149. doi: 10.18632/oncotarget.10321.
3. NBD peptides protect against ischemia reperfusion after orthotopic liver transplantation in rats. Cheng MX, etal., J Surg Res. 2012 Aug;176(2):666-71. doi: 10.1016/j.jss.2011.12.005. Epub 2011 Dec 22.
4. Haematopoietic cell-derived Jnk1 is crucial for chronic inflammation and carcinogenesis in an experimental model of liver injury. Cubero FJ, etal., J Hepatol. 2015 Jan;62(1):140-9. doi: 10.1016/j.jhep.2014.08.029. Epub 2014 Aug 27.
5. Inhibition of nuclear factor-kappaB ameliorates bowel injury and prolongs survival in a neonatal rat model of necrotizing enterocolitis. De Plaen IG, etal., Pediatr Res. 2007 Jun;61(6):716-21.
6. Loss of Cyclin E1 attenuates hepatitis and hepatocarcinogenesis in a mouse model of chronic liver injury. Ehedego H, etal., Oncogene. 2018 Jun;37(25):3329-3339. doi: 10.1038/s41388-018-0181-8. Epub 2018 Mar 19.
7. Death receptor-independent FADD signalling triggers hepatitis and hepatocellular carcinoma in mice with liver parenchymal cell-specific NEMO knockout. Ehlken H, etal., Cell Death Differ. 2014 Nov;21(11):1721-32. doi: 10.1038/cdd.2014.83. Epub 2014 Jun 27.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Shared principles in NF-kappaB signaling. Hayden MS and Ghosh S, Cell. 2008 Feb 8;132(3):344-62.
10. Colon-targeted cell-permeable NF¿B inhibitory peptide is orally active against experimental colitis. Hong S, etal., Mol Pharm. 2012 May 7;9(5):1310-9. doi: 10.1021/mp200591q. Epub 2012 Mar 27.
11. [NEMO Delta 4-10 deletion of NEMO gene in Chinese incontinentia pigmenti cases]. Li L, etal., Zhonghua Er Ke Za Zhi. 2005 Feb;43(2):89-92.
12. Cell-permeable Tat-NBD peptide attenuates rat pancreatitis and acinus cell inflammation response. Long YM, etal., World J Gastroenterol. 2009 Feb 7;15(5):561-9.
13. Deletion of NEMO/IKKgamma in liver parenchymal cells causes steatohepatitis and hepatocellular carcinoma. Luedde T, etal., Cancer Cell. 2007 Feb;11(2):119-32. doi: 10.1016/j.ccr.2006.12.016.
14. NF-κB essential modifier is required for hepatocyte proliferation and the oval cell reaction after partial hepatectomy in mice. Malato Y, etal., Gastroenterology. 2012 Dec;143(6):1597-1608.e11. doi: 10.1053/j.gastro.2012.08.030. Epub 2012 Aug 23.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
17. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
18. Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease. Pizzamiglio MR, etal., PLoS One. 2014 Jan 29;9(1):e87771. doi: 10.1371/journal.pone.0087771. eCollection 2014.
19. Application quantitative proteomics approach to identify differentially expressed proteins associated with cardiac protection mediated by cycloastragenol in acute myocardial infarction rats. Ren YS, etal., J Proteomics. 2020 Jun 30;222:103691. doi: 10.1016/j.jprot.2020.103691. Epub 2020 Feb 14.
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Smahi A, etal., Nature. 2000 May 25;405(6785):466-72.
24. NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients. Takada H, etal., Clin Genet. 2010 Dec;78(6):575-9. doi: 10.1111/j.1399-0004.2010.01432.x.
25. Local treatment with the selective IkappaB kinase beta inhibitor NEMO-binding domain peptide ameliorates synovial inflammation. Tas SW, etal., Arthritis Res Ther. 2006;8(4):R86.
26. Tumor necrosis factor signaling. Wajant H, etal., Cell Death Differ. 2003 Jan;10(1):45-65.
27. Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. Ørstavik KH, etal., Am J Med Genet A. 2006 Jan 1;140(1):31-9.
Additional References at PubMed
PMID:9744859   PMID:9751060   PMID:9891086   PMID:9927690   PMID:10087442   PMID:10364167   PMID:10723127   PMID:10733566   PMID:10755617   PMID:10880512   PMID:10944468   PMID:10962024  
PMID:10962033   PMID:10968790   PMID:10980203   PMID:11002417   PMID:11047757   PMID:11057907   PMID:11064457   PMID:11080499   PMID:11113112   PMID:11224521   PMID:11242109   PMID:11256614  
PMID:11262391   PMID:11389905   PMID:11410370   PMID:11418127   PMID:11485410   PMID:11495908   PMID:11551959   PMID:11590134   PMID:11673821   PMID:11709543   PMID:11830587   PMID:11864612  
PMID:11877453   PMID:11971901   PMID:11971985   PMID:12045264   PMID:12133833   PMID:12138192   PMID:12192055   PMID:12244103   PMID:12435599   PMID:12459277   PMID:12477932   PMID:12486103  
PMID:12530972   PMID:12612076   PMID:12657630   PMID:12808104   PMID:12867425   PMID:12917689   PMID:12917690   PMID:12917691   PMID:12943667   PMID:14585847   PMID:14585990   PMID:14597638  
PMID:14651848   PMID:14653779   PMID:14684825   PMID:14695475   PMID:14726382   PMID:14743216   PMID:14754897   PMID:14764716   PMID:15043934   PMID:15100680   PMID:15125833   PMID:15184390  
PMID:15218148   PMID:15229184   PMID:15231748   PMID:15276183   PMID:15327770   PMID:15341735   PMID:15356572   PMID:15371500   PMID:15456791   PMID:15474016   PMID:15489334   PMID:15578091  
PMID:15601829   PMID:15601896   PMID:15620648   PMID:15653678   PMID:15670770   PMID:15749833   PMID:15802604   PMID:15870263   PMID:16051665   PMID:16126728   PMID:16129692   PMID:16148947  
PMID:16227629   PMID:16267042   PMID:16301747   PMID:16311516   PMID:16319058   PMID:16360037   PMID:16379012   PMID:16497931   PMID:16543241   PMID:16547522   PMID:16583354   PMID:16603398  
PMID:16611882   PMID:16627981   PMID:16684768   PMID:16697380   PMID:16737960   PMID:16794254   PMID:16831874   PMID:16874300   PMID:16906147   PMID:16938294   PMID:17000764   PMID:17030804  
PMID:17043643   PMID:17047224   PMID:17135271   PMID:17145747   PMID:17244613   PMID:17314097   PMID:17314283   PMID:17363905   PMID:17363973   PMID:17401323   PMID:17401626   PMID:17468758  
PMID:17568778   PMID:17626013   PMID:17693255   PMID:17702576   PMID:17728323   PMID:17766391   PMID:17891179   PMID:17910706   PMID:17932497   PMID:17939994   PMID:17948050   PMID:17977820  
PMID:17997719   PMID:18029035   PMID:18029348   PMID:18037881   PMID:18079694   PMID:18180283   PMID:18187620   PMID:18201555   PMID:18207244   PMID:18212736   PMID:18221368   PMID:18266324  
PMID:18266467   PMID:18287044   PMID:18313693   PMID:18347055   PMID:18350553   PMID:18429822   PMID:18450452   PMID:18462684   PMID:18511905   PMID:18519641   PMID:18583959   PMID:18617513  
PMID:18625728   PMID:18626576   PMID:18685082   PMID:18841575   PMID:18851874   PMID:18931663   PMID:18949366   PMID:18952891   PMID:18957422   PMID:19033441   PMID:19064727   PMID:19079347  
PMID:19149237   PMID:19185524   PMID:19285159   PMID:19303852   PMID:19305025   PMID:19327867   PMID:19365808   PMID:19373245   PMID:19373254   PMID:19404319   PMID:19422324   PMID:19453261  
PMID:19494296   PMID:19531477   PMID:19603533   PMID:19609363   PMID:19656162   PMID:19656241   PMID:19666608   PMID:19675569   PMID:19687056   PMID:19706536   PMID:19763089   PMID:19815509  
PMID:19820708   PMID:19854204   PMID:19875381   PMID:19880420   PMID:19897484   PMID:19948975   PMID:19956647   PMID:19959994   PMID:20005846   PMID:20010814   PMID:20026645   PMID:20098747  
PMID:20161788   PMID:20164171   PMID:20167598   PMID:20211142   PMID:20301198   PMID:20301552   PMID:20301645   PMID:20353939   PMID:20368414   PMID:20380930   PMID:20434027   PMID:20434986  
PMID:20484576   PMID:20499091   PMID:20529958   PMID:20542322   PMID:20586999   PMID:20724660   PMID:20837477   PMID:20890435   PMID:20923877   PMID:20932475   PMID:20932476   PMID:20970423  
PMID:21057728   PMID:21109981   PMID:21113135   PMID:21153314   PMID:21184742   PMID:21212807   PMID:21217772   PMID:21220427   PMID:21286028   PMID:21309033   PMID:21383699   PMID:21423167  
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PMID:21709223   PMID:21722947   PMID:21777808   PMID:21790911   PMID:21803029   PMID:21811235   PMID:21862579   PMID:21862596   PMID:21873635   PMID:21896478   PMID:21903422   PMID:21988832  
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PMID:23104095   PMID:23123196   PMID:23131831   PMID:23144700   PMID:23453807   PMID:23453969   PMID:23483900   PMID:23506214   PMID:23524849   PMID:23575687   PMID:23690623   PMID:23732909  
PMID:23746843   PMID:23776175   PMID:23802866   PMID:23807287   PMID:23950712   PMID:23986494   PMID:24012789   PMID:24030825   PMID:24073555   PMID:24100029   PMID:24109239   PMID:24189400  
PMID:24240172   PMID:24266532   PMID:24270048   PMID:24270572   PMID:24339369   PMID:24379373   PMID:24457965   PMID:24469399   PMID:24487970   PMID:24488098   PMID:24552808   PMID:24561039  
PMID:24586659   PMID:24618592   PMID:24658140   PMID:24672029   PMID:24682681   PMID:24721901   PMID:24735611   PMID:24832601   PMID:25036637   PMID:25152375   PMID:25241761   PMID:25286246  
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PMID:30833792   PMID:30862715   PMID:30886048   PMID:30913450   PMID:30943066   PMID:31070748   PMID:31091453   PMID:31119873   PMID:31145594   PMID:31289372   PMID:31366726   PMID:31502302  
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PMID:34610306   PMID:34675436   PMID:34709266   PMID:34755089   PMID:34763226   PMID:34876703   PMID:34908452   PMID:35003103   PMID:35140242   PMID:35163099   PMID:35271311   PMID:35289316  
PMID:35339487   PMID:35509820   PMID:35559673   PMID:35563538   PMID:35696571   PMID:35715412   PMID:35851409   PMID:35856559   PMID:35944360   PMID:35952808   PMID:36075915   PMID:36181338  
PMID:36192478   PMID:36217029   PMID:36309088   PMID:36316443   PMID:36398858   PMID:36720498   PMID:36736316   PMID:36782312   PMID:36894068   PMID:36916940   PMID:37085671   PMID:37100289  
PMID:37211186   PMID:37292615   PMID:37431163   PMID:37683611   PMID:37890781   PMID:38334954   PMID:38505605   PMID:38536952   PMID:38755681   PMID:38773385   PMID:38803224  


Genomics

Comparative Map Data
IKBKG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,541,238 - 154,565,046 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,541,199 - 154,565,046 (+)EnsemblGRCh38hg38GRCh38
GRCh37X153,769,453 - 153,793,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,423,653 - 153,446,455 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X153,339,765 - 153,356,964NCBI
CeleraX153,931,508 - 153,953,200 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,346,885 - 142,356,952 (+)NCBIHuRef
CHM1_1X153,682,228 - 153,705,030 (+)NCBICHM1_1
T2T-CHM13v2.0X152,777,621 - 152,801,428 (+)NCBIT2T-CHM13v2.0
Ikbkg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,436,883 - 73,498,013 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX73,436,896 - 73,497,460 (+)EnsemblGRCm39 Ensembl
GRCm38X74,393,233 - 74,456,792 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,393,290 - 74,453,854 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,638,630 - 71,699,117 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,682,424 - 70,704,240 (+)NCBIMGSCv36mm8
CeleraX65,647,484 - 65,706,592 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX38.0NCBI
Ikbkg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X157,358,279 - 157,397,563 (+)NCBIGRCr8
mRatBN7.2X152,216,485 - 152,241,476 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX152,216,596 - 152,239,499 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX154,366,048 - 154,379,411 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,928,859 - 157,942,222 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,601,075 - 155,614,438 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,254,187 - 156,280,046 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,257,173 - 156,270,748 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01151,994,689 - 152,019,874 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,386,558 - 160,420,190 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X160,483,372 - 160,496,394 (+)NCBI
Celera1135,659,513 - 135,672,876 (-)NCBICelera
Cytogenetic MapXq37NCBI
Ikbkg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555801,053,823 - 1,069,802 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555801,053,823 - 1,069,802 (+)NCBIChiLan1.0ChiLan1.0
IKBKG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X154,521,470 - 154,539,144 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X154,524,964 - 154,546,311 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,988,720 - 144,010,078 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,869,352 - 153,876,677 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,854,493 - 153,876,092 (+)Ensemblpanpan1.1panPan2
IKBKG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,232,052 - 122,253,499 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,235,878 - 122,250,562 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,373,537 - 125,395,176 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX125,373,743 - 125,395,172 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X121,142,500 - 121,164,137 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,657,571 - 123,679,200 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X123,419,351 - 123,440,993 (+)NCBIUU_Cfam_GSD_1.0
Ikbkg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,519,768 - 119,569,193 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368091,257,654 - 1,301,813 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049368091,280,254 - 1,306,964 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IKBKG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,036,508 - 125,056,453 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,035,575 - 125,056,445 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,478,840 - 143,498,934 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IKBKG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,781,975 - 128,816,039 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX128,787,785 - 128,806,083 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606566,774,279 - 66,797,151 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ikbkg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946996,814 - 1,013,379 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946997,571 - 1,015,748 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IKBKG
147 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001099857.5(IKBKG):c.188-1G>A single nucleotide variant not provided [RCV000519580] ChrX:154556164 [GRCh38]
ChrX:153784379 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.792dup (p.Gln265fs) duplication not provided [RCV000523493] ChrX:154562830..154562831 [GRCh38]
ChrX:153791045..153791046 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1056-18C>T single nucleotide variant not provided [RCV001668137]|not specified [RCV003155043] ChrX:154563941 [GRCh38]
ChrX:153792156 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_001099857.5(IKBKG):c.1056-6= single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030048]|not provided [RCV001811209]|not specified [RCV001698947] ChrX:154563953 [GRCh38]
ChrX:153792168 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del) microsatellite Ectodermal dysplasia and immunodeficiency 1 [RCV000030049] ChrX:154556238..154556240 [GRCh38]
ChrX:153784453..153784455 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001099857.5(IKBKG):c.399+19G>C single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030050]|not provided [RCV001675585] ChrX:154556395 [GRCh38]
ChrX:153784610 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030051] ChrX:154558602 [GRCh38]
ChrX:153786817 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001099857.5(IKBKG):c.518+7C>T single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030052]|not provided [RCV001650848] ChrX:154558657 [GRCh38]
ChrX:153786872 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NC_000023.11:g.(154556377_154558531)_(154565046_?)del deletion Incontinentia pigmenti syndrome [RCV000012200] ChrX:154558531..154565046 [GRCh38]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs) duplication Incontinentia pigmenti syndrome [RCV000012201]|not provided [RCV003162240] ChrX:154564007..154564008 [GRCh38]
ChrX:153792222..153792223 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) single nucleotide variant Incontinentia pigmenti syndrome [RCV000012202]|not provided [RCV001582474] ChrX:154564420 [GRCh38]
ChrX:153792635 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp) single nucleotide variant ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV000012203]|Incontinentia pigmenti syndrome [RCV000170521] ChrX:154564460 [GRCh38]
ChrX:153792675 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs) duplication Incontinentia pigmenti syndrome [RCV000012204] ChrX:154552119..154552120 [GRCh38]
ChrX:153780334..153780335 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter) single nucleotide variant Incontinentia pigmenti syndrome [RCV000012205]|not provided [RCV000256164] ChrX:154552186 [GRCh38]
ChrX:153780401 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1171G>T (p.Glu391Ter) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012206]|not provided [RCV000760425] ChrX:154564372 [GRCh38]
ChrX:153792587 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1249T>C (p.Cys417Arg) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012207] ChrX:154564450 [GRCh38]
ChrX:153792665 [GRCh37]
ChrX:Xq28		 pathogenic
IKBKG, 1-BP DUP, 1167C duplication Hypohidrotic ectodermal dysplasia with immune deficiency [RCV000012209]|INCONTINENTIA PIGMENTI, ATYPICAL [RCV000170522]|INCONTINENTIA PIGMENTI, TYPE II, ATYPICAL [RCV000012210]|Incontinentia pigmenti, atypical [RCV000170522] ChrX:Xq28 pathogenic
NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012211]|not provided [RCV000059068] ChrX:154564451 [GRCh38]
ChrX:153792666 [GRCh37]
ChrX:Xq28		 pathogenic|not provided
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val) AND ECTODERMAL DYSPLASIA single nucleotide variant ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV000024285]|Incontinentia pigmenti syndrome [RCV001172474] ChrX:154564418 [GRCh38]
ChrX:153792633 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs) duplication Incontinentia pigmenti syndrome [RCV000012213] ChrX:154564364..154564365 [GRCh38]
ChrX:153792579..153792580 [GRCh37]
ChrX:Xq28		 pathogenic
NG_009896.1:g.19984_24446dup duplication Ectodermal dysplasia and immunodeficiency 1 [RCV000012214] ChrX:154558768..154560134 [GRCh38]
ChrX:153785441..153785442 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012215] ChrX:154558590 [GRCh38]
ChrX:153786805 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1207C>T (p.Gln403Ter) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012216] ChrX:154564408 [GRCh38]
ChrX:153792623 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.768+5G>A single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012217] ChrX:154561789 [GRCh38]
ChrX:153790004 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1049dup (p.Ala351fs) duplication Ectodermal dysplasia and immunodeficiency 1 [RCV000012218] ChrX:154563694..154563695 [GRCh38]
ChrX:153791909..153791910 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1056-1G>A single nucleotide variant Immunodeficiency 33 [RCV003151721] ChrX:154563958 [GRCh38]
ChrX:153792173 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.111dup (p.Met38fs) duplication Immunodeficiency 33 [RCV000012220] ChrX:154552111..154552112 [GRCh38]
ChrX:153780326..153780327 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012221] ChrX:154562904 [GRCh38]
ChrX:153791119 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.944A>C (p.Glu315Ala) single nucleotide variant Immunodeficiency 33 [RCV000012222]|not provided [RCV004719637] ChrX:154563590 [GRCh38]
ChrX:153791805 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|risk factor
NM_001099857.5(IKBKG):c.956G>A (p.Arg319Gln) single nucleotide variant Immunodeficiency 33 [RCV000012223] ChrX:154563602 [GRCh38]
ChrX:153791817 [GRCh37]
ChrX:Xq28		 pathogenic|risk factor
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly) single nucleotide variant Immunodeficiency 33 [RCV000012224]|not provided [RCV000059072] ChrX:154558649 [GRCh38]
ChrX:153786864 [GRCh37]
ChrX:Xq28		 pathogenic|not provided
NM_001099857.5(IKBKG):c.1260G>C (p.Ter420Tyr) single nucleotide variant not provided [RCV000522162] ChrX:154564461 [GRCh38]
ChrX:153792676 [GRCh37]
ChrX:Xq28		 likely 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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28		 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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 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: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-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 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28		 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-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.1250G>A (p.Cys417Tyr) single nucleotide variant not provided [RCV000059067] ChrX:154564451 [GRCh38]
ChrX:153792666 [GRCh37]
ChrX:Xq28		 not provided
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) single nucleotide variant Common variable immunodeficiency [RCV003493432]|IKBKG-related disorder [RCV003905029]|Immunodeficiency 33 [RCV001172482]|not provided [RCV000059069] ChrX:154552171 [GRCh38]
ChrX:153780386 [GRCh37]
ChrX:Xq28		 pathogenic|benign|likely benign|uncertain significance|not provided
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV002470750]|Immunodeficiency 33 [RCV001172486]|not provided [RCV000059070] ChrX:154556314 [GRCh38]
ChrX:153784529 [GRCh37]
ChrX:Xq28		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp) single nucleotide variant not provided [RCV000059071] ChrX:154556344 [GRCh38]
ChrX:153784559 [GRCh37]
ChrX:Xq28		 not provided
NM_001099857.5(IKBKG):c.524G>C (p.Arg175Pro) single nucleotide variant not provided [RCV000059073] ChrX:154560412 [GRCh38]
ChrX:153788627 [GRCh37]
ChrX:Xq28		 not provided
NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro) single nucleotide variant not provided [RCV000059074] ChrX:154561696 [GRCh38]
ChrX:153789911 [GRCh37]
ChrX:Xq28		 not provided
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000589891]|not provided [RCV000059075] ChrX:154563577 [GRCh38]
ChrX:153791792 [GRCh37]
ChrX:Xq28		 likely pathogenic|not provided
NM_001099857.5(IKBKG):c.967G>C (p.Ala323Pro) single nucleotide variant not provided [RCV000059076] ChrX:154563613 [GRCh38]
ChrX:153791828 [GRCh37]
ChrX:Xq28		 not provided
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011141]|G6PD SUNDERLAND [RCV000011140]|not provided [RCV001810842] ChrX:154546046..154546048 [GRCh38]
ChrX:153774261..153774263 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance|other
NM_000402.4(G6PD):c.185A>G (p.His62Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000798781]|Early-onset coronary artery disease [RCV004540993]|G6PD GAOHE [RCV000011146]|G6PD deficiency [RCV004525851]|Inborn genetic diseases [RCV002512966]|Malaria, susceptibility to [RCV002496323]|Malaria, susceptibility to [RCV003460456] ChrX:154546061 [GRCh38]
ChrX:153774276 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_001360016.2(G6PD):c.98T>C (p.Ile33Thr) single nucleotide variant not provided [RCV000175655] ChrX:154546058 [GRCh38]
ChrX:153774273 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
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)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: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: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: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: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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28		 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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28		 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 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154544685-154548174)x3 copy number gain See cases [RCV000137869] ChrX:154544685..154548174 [GRCh38]
ChrX:153772900..153776389 [GRCh37]
ChrX:153426094..153429583 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154539013-154545901)x2 copy number gain See cases [RCV000139452] ChrX:154539013..154545901 [GRCh38]
ChrX:153767227..153774116 [GRCh37]
ChrX:153420421..153427310 [NCBI36]
ChrX:Xq28		 uncertain significance
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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-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 Xq28(chrX:154559495-154736598)x2 copy number gain See cases [RCV000140472] ChrX:154559495..154736598 [GRCh38]
ChrX:153787710..153964873 [GRCh37]
ChrX:153440904..153618067 [NCBI36]
ChrX:Xq28		 benign
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154503086-154604471)x2 copy number gain See cases [RCV000141604] ChrX:154503086..154604471 [GRCh38]
ChrX:153731421..153832724 [GRCh37]
ChrX:153384615..153485918 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
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
NM_001099857.5(IKBKG):c.868C>T (p.Gln290Ter) single nucleotide variant not provided [RCV000579283] ChrX:154562909 [GRCh38]
ChrX:153791124 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_001099857.5(IKBKG):c.440C>T (p.Thr147Met) single nucleotide variant not provided [RCV000756275] ChrX:154558572 [GRCh38]
ChrX:153786787 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001042351.2(G6PD):c.-111A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305483]|G6PD deficiency [RCV000277086] ChrX:154547570 [GRCh38]
ChrX:153775785 [GRCh37]
ChrX:Xq28		 likely pathogenic|benign|likely benign
NM_001360016.2(G6PD):c.120+7A>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000872077]|G6PD deficiency [RCV000369276] ChrX:154546029 [GRCh38]
ChrX:153774244 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_001099857.5(IKBKG):c.761G>A (p.Arg254Gln) single nucleotide variant not provided [RCV000489030] ChrX:154561777 [GRCh38]
ChrX:153789992 [GRCh37]
ChrX:Xq28		 likely pathogenic|likely benign
NM_001099857.5(IKBKG):c.497A>T (p.Glu166Val) single nucleotide variant not provided [RCV000489722] ChrX:154558629 [GRCh38]
ChrX:153786844 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_001099857.5(IKBKG):c.766C>T (p.Arg256Ter) single nucleotide variant not provided [RCV000489758] ChrX:154561782 [GRCh38]
ChrX:153789997 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.988C>T (p.Gln330Ter) single nucleotide variant not provided [RCV003314842] ChrX:154563634 [GRCh38]
ChrX:153791849 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.120+9C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001440890]|not provided [RCV000348652] ChrX:154546027 [GRCh38]
ChrX:153774242 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001099857.5(IKBKG):c.519-3_519dup duplication Incontinentia pigmenti syndrome [RCV003987618]|not provided [RCV000599176] ChrX:154560403..154560404 [GRCh38]
ChrX:153788618..153788619 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000615929]|Inborn genetic diseases [RCV002527122]|not provided [RCV003437228]|not specified [RCV004586742] ChrX:154552187 [GRCh38]
ChrX:153780402 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
NM_001321396.3(IKBKG):c.-16+3G>A single nucleotide variant Immunodeficiency 33 [RCV000767994]|Immunodeficiency 33 [RCV003224412] ChrX:154542390 [GRCh38]
ChrX:153770605 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.220del (p.Glu74fs) deletion not provided [RCV000413129] ChrX:154556195 [GRCh38]
ChrX:153784410 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) duplication Ectodermal dysplasia and immunodeficiency 1 [RCV000012209]|Immunodeficiency 33 [RCV002506000]|Immunodeficiency 33 [RCV003992285]|Incontinentia pigmenti syndrome [RCV001172473]|not provided [RCV000413717] ChrX:154564361..154564362 [GRCh38]
ChrX:153792576..153792577 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.672-2A>G single nucleotide variant not provided [RCV000414214] ChrX:154561686 [GRCh38]
ChrX:153789901 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28		 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001099857.5(IKBKG):c.518G>A (p.Arg173Gln) single nucleotide variant not provided [RCV000432679] ChrX:154558650 [GRCh38]
ChrX:153786865 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_001099857.5(IKBKG):c.606G>A (p.Leu202=) single nucleotide variant not specified [RCV000426391] ChrX:154560494 [GRCh38]
ChrX:153788709 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.502C>T (p.Gln168Ter) single nucleotide variant not provided [RCV000442216] ChrX:154558634 [GRCh38]
ChrX:153786849 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 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 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_001099857.5(IKBKG):c.1105_1106insG (p.Pro369fs) insertion not provided [RCV000482645] ChrX:154564008..154564009 [GRCh38]
ChrX:153792223..153792224 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.662del (p.Ser221fs) deletion not provided [RCV000478080] ChrX:154560550 [GRCh38]
ChrX:153788765 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1258T>C (p.Ter420Gln) single nucleotide variant not provided [RCV000486745] ChrX:154564459 [GRCh38]
ChrX:153792674 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.723C>G (p.Tyr241Ter) single nucleotide variant not provided [RCV000498451] ChrX:154561739 [GRCh38]
ChrX:153789954 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_001099857.5(IKBKG):c.672-2A>T single nucleotide variant not provided [RCV000494051] ChrX:154561686 [GRCh38]
ChrX:153789901 [GRCh37]
ChrX:Xq28		 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 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 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 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
NM_001099857.5(IKBKG):c.652_662dup (p.Glu222fs) duplication not provided [RCV000493340] ChrX:154560538..154560539 [GRCh38]
ChrX:153788753..153788754 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_001099857.5(IKBKG):c.1117+5G>C AND ECTODERMAL DYSPLASIA single nucleotide variant ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV001172480]|Incontinentia pigmenti syndrome [RCV001172481]|not provided [RCV000523987] ChrX:154564025 [GRCh38]
ChrX:153792240 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.768+2T>G single nucleotide variant not provided [RCV000523545] ChrX:154561786 [GRCh38]
ChrX:153790001 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
NM_001099856.6(IKBKG):c.19G>A (p.Val7Met) single nucleotide variant Inborn genetic diseases [RCV000622828]|not provided [RCV000659189] ChrX:154542282 [GRCh38]
ChrX:153770497 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153723127-153792604)x1 copy number loss not provided [RCV000684415] ChrX:153723127..153792604 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153749360-155233731)x3 copy number gain not provided [RCV000684416] ChrX:153749360..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28		 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_001360016.2(G6PD):c.-9+7G>C single nucleotide variant not provided [RCV002227239] ChrX:154546782 [GRCh38]
ChrX:153774997 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_001099857.5(IKBKG):c.518+866C>T single nucleotide variant IMMUNODEFICIENCY 33, MALE-RESTRICTED [RCV000757923]|Incontinentia pigmenti syndrome [RCV001172475] ChrX:154559516 [GRCh38]
ChrX:153787731 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1060G>A (p.Glu354Lys) single nucleotide variant Inborn genetic diseases [RCV002536872]|not specified [RCV000781477] ChrX:154563963 [GRCh38]
ChrX:153792178 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh37/hg19 Xq28(chrX:153761240-155227607) copy number loss not provided [RCV000767811] ChrX:153761240..155227607 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_001099857.5(IKBKG):c.1056-17G>A single nucleotide variant not provided [RCV000826374] ChrX:154563942 [GRCh38]
ChrX:153792157 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr) single nucleotide variant G6PD deficiency [RCV001169145] ChrX:154546068 [GRCh38]
ChrX:153774283 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter) single nucleotide variant Incontinentia pigmenti syndrome [RCV001199162] ChrX:154556335 [GRCh38]
ChrX:153784550 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_001360016.2(G6PD):c.34G>A (p.Val12Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003114923] ChrX:154546122 [GRCh38]
ChrX:153774337 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_152014869)_(154563736_?)del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001360016.2(G6PD):c.49C>T (p.Arg17Trp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV004699750] ChrX:154546107 [GRCh38]
ChrX:153774322 [GRCh37]
ChrX:Xq28		 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
NC_000023.10:g.(?_153585782)_(153775961_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107407] ChrX:153585782..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.518+34C>G single nucleotide variant not provided [RCV001715677] ChrX:154558684 [GRCh38]
ChrX:153786899 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 copy number gain Intellectual disability [RCV001638056] ChrX:153263517..155260560 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.120+199del deletion not provided [RCV001569780] ChrX:154545837 [GRCh38]
ChrX:153774052 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.1224del (p.Asp408fs) deletion not provided [RCV001552838] ChrX:154564425 [GRCh38]
ChrX:153792640 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001099857.5(IKBKG):c.1167del (p.Glu390fs) deletion not provided [RCV001592768] ChrX:154564362 [GRCh38]
ChrX:153792577 [GRCh37]
ChrX:Xq28		 pathogenic
IKBKG, 2-BP DEL, 1182TT deletion ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV001172478]|Incontinentia pigmenti syndrome [RCV001172479] ChrX:Xq28 pathogenic
NM_001099857.5(IKBKG):c.811_828del (p.Glu271_Ala276del) deletion Immunodeficiency 33 [RCV001172476] ChrX:154562848..154562865 [GRCh38]
ChrX:153791063..153791080 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.833AGG[1] (p.Glu279del) microsatellite not provided [RCV001572032] ChrX:154562874..154562876 [GRCh38]
ChrX:153791089..153791091 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.518+118= single nucleotide variant not provided [RCV001595381] ChrX:154558768 [GRCh38]
ChrX:153786983 [GRCh37]
ChrX:Xq28		 benign
NM_001099857.5(IKBKG):c.1075C>T (p.Arg359Trp) single nucleotide variant not provided [RCV001576386] ChrX:154563978 [GRCh38]
ChrX:153792193 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.268_270del (p.Lys90del) deletion not provided [RCV003235882] ChrX:154556243..154556245 [GRCh38]
ChrX:153784458..153784460 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001099857.5(IKBKG):c.1055+16C>T single nucleotide variant not provided [RCV001621578] ChrX:154563717 [GRCh38]
ChrX:153791932 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.120+199dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305619]|not provided [RCV001656135] ChrX:154545836..154545837 [GRCh38]
ChrX:153774051..153774052 [GRCh37]
ChrX:Xq28		 benign
NM_001099857.5(IKBKG):c.519-48G>C single nucleotide variant not provided [RCV001715679] ChrX:154560359 [GRCh38]
ChrX:153788574 [GRCh37]
ChrX:Xq28		 benign
NM_001042351.3(G6PD):c.-9+340= single nucleotide variant not provided [RCV001635678] ChrX:154547128 [GRCh38]
ChrX:153775343 [GRCh37]
ChrX:Xq28		 benign
NM_001099857.5(IKBKG):c.-16+344G>C single nucleotide variant Immunodeficiency 33 [RCV001172483] ChrX:154548089 [GRCh38]
ChrX:153776304 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.913-60G>A single nucleotide variant not provided [RCV001679696] ChrX:154563499 [GRCh38]
ChrX:153791714 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.120+235G>A single nucleotide variant not provided [RCV001614210] ChrX:154545801 [GRCh38]
ChrX:153774016 [GRCh37]
ChrX:Xq28		 benign
NM_001042351.3(G6PD):c.-9+323= single nucleotide variant not provided [RCV001695630] ChrX:154547145 [GRCh38]
ChrX:153775360 [GRCh37]
ChrX:Xq28		 benign
NM_001042351.3(G6PD):c.-9+14C>G single nucleotide variant G6PD deficiency [RCV001169146] ChrX:154547454 [GRCh38]
ChrX:153775669 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001042351.3(G6PD):c.-23G>A single nucleotide variant G6PD deficiency [RCV001169147] ChrX:154547482 [GRCh38]
ChrX:153775697 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_001099857.5(IKBKG):c.239T>C (p.Leu80Pro) single nucleotide variant Immunodeficiency 33 [RCV001172477] ChrX:154556216 [GRCh38]
ChrX:153784431 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1117+1G>A single nucleotide variant ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV001172484]|Incontinentia pigmenti syndrome [RCV001172485] ChrX:154564021 [GRCh38]
ChrX:153792236 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter) single nucleotide variant Incontinentia pigmenti syndrome [RCV001251338]|not provided [RCV002307712] ChrX:154561722 [GRCh38]
ChrX:153789937 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
GRCh37/hg19 Xq28(chrX:152372767-155233731) copy number gain Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
NM_001099857.5(IKBKG):c.519-2A>C single nucleotide variant NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) [RCV001310079] ChrX:154560405 [GRCh38]
ChrX:153788620 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_153760215)_(153775961_?)dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001351092] ChrX:153760215..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
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_001099857.5(IKBKG):c.549G>C (p.Gln183His) single nucleotide variant not provided [RCV001509140] ChrX:154560437 [GRCh38]
ChrX:153788652 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.787C>G (p.Leu263Val) single nucleotide variant not provided [RCV001509141] ChrX:154562828 [GRCh38]
ChrX:153791043 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.120+7A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001461092] ChrX:154546029 [GRCh38]
ChrX:153774244 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.913-30G>A single nucleotide variant not provided [RCV001509142] ChrX:154563529 [GRCh38]
ChrX:153791744 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.1056-16G>C single nucleotide variant not provided [RCV001700853] ChrX:154563943 [GRCh38]
ChrX:153792158 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.1118-6T>C single nucleotide variant not provided [RCV001616709] ChrX:154564313 [GRCh38]
ChrX:153792528 [GRCh37]
ChrX:Xq28		 benign
NC_000023.10:g.(?_152014869)_(155171615_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153640181)_(153775961_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV003119319]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003119320]|not provided [RCV003109229] ChrX:153640181..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance|no classifications from unflagged records
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del deletion Incontinentia pigmenti syndrome [RCV001785272] ChrX:153786697..153792726 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1007T>C (p.Leu336Pro) single nucleotide variant not provided [RCV001767003] ChrX:154563653 [GRCh38]
ChrX:153791868 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.597G>A (p.Val199=) single nucleotide variant Autoinflammatory disease, X-linked [RCV002251769]|not provided [RCV001762996] ChrX:154560485 [GRCh38]
ChrX:153788700 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
NM_001099857.5(IKBKG):c.518G>C (p.Arg173Pro) single nucleotide variant not provided [RCV001774659] ChrX:154558650 [GRCh38]
ChrX:153786865 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.487_492del (p.Ala163_Thr164del) deletion not provided [RCV001771140] ChrX:154558617..154558622 [GRCh38]
ChrX:153786832..153786837 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.519-8_519-7insCGGGCCCTG insertion not provided [RCV001771185] ChrX:154560399..154560400 [GRCh38]
ChrX:153788614..153788615 [GRCh37]
ChrX:Xq28		 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_001099857.5(IKBKG):c.41_56dup (p.Pro20fs) duplication Immunodeficiency 33 [RCV001808923] ChrX:154552039..154552040 [GRCh38]
ChrX:153780254..153780255 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28		 pathogenic
NM_001099857.5(IKBKG):c.399+6C>T single nucleotide variant Immunodeficiency 33 [RCV001839197] ChrX:154556382 [GRCh38]
ChrX:153784597 [GRCh37]
ChrX:Xq28		 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
GRCh37/hg19 Xq28(chrX:153731506-153861077)x3 copy number gain not provided [RCV001827726] ChrX:153731506..153861077 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001839227] ChrX:154546084 [GRCh38]
ChrX:153774299 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) single nucleotide variant Immunodeficiency 33 [RCV002053866]|Immunodeficiency 33 [RCV003224608] ChrX:154561776 [GRCh38]
ChrX:153789991 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 copy number gain not provided [RCV001834439] ChrX:153093501..153792322 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001969065] ChrX:154546062 [GRCh38]
ChrX:153774277 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.11:g.154547746G>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001940200] ChrX:154547746 [GRCh38]
ChrX:153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153688524)_(155171615_?)del deletion not provided [RCV002011857] ChrX:153688524..155171615 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.30C>A (p.Thr10=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002139795] ChrX:154546126 [GRCh38]
ChrX:153774341 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.973AAG[1] (p.Lys326del) microsatellite not provided [RCV002226103] ChrX:154563617..154563619 [GRCh38]
ChrX:153791832..153791834 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.78C>T (p.Phe26=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002157254] ChrX:154546078 [GRCh38]
ChrX:153774293 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.936C>G (p.Phe312Leu) single nucleotide variant not provided [RCV002226030] ChrX:154563582 [GRCh38]
ChrX:153791797 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001099857.5(IKBKG):c.519-19_519-2del deletion not provided [RCV002244567] ChrX:154560388..154560405 [GRCh38]
ChrX:153788603..153788620 [GRCh37]
ChrX:Xq28		 likely pathogenic
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.519-2A>G single nucleotide variant Autoinflammatory disease, X-linked [RCV002250444] ChrX:154560405 [GRCh38]
ChrX:153788620 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.671+2T>G single nucleotide variant Autoinflammatory disease, X-linked [RCV002250446] ChrX:154560561 [GRCh38]
ChrX:153788776 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153762230)_(153775961_?)dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122394] ChrX:153762230..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.-9+10C>T single nucleotide variant G6PD-related disorder [RCV004749887]|not provided [RCV002227315] ChrX:154546779 [GRCh38]
ChrX:153774994 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099856.6(IKBKG):c.148C>T (p.Arg50Cys) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV002272958]|IKBKG-related disorder [RCV003971219] ChrX:154542411 [GRCh38]
ChrX:153770626 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.671+5G>A single nucleotide variant Autoinflammatory disease, X-linked [RCV002250447] ChrX:154560564 [GRCh38]
ChrX:153788779 [GRCh37]
ChrX:Xq28		 pathogenic
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-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:153529891-155114697)x3 copy number gain not provided [RCV002265532] ChrX:153529891..155114697 [GRCh37]
ChrX:Xq28		 not provided
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28		 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_001099857.5(IKBKG):c.995A>C (p.Gln332Pro) single nucleotide variant not provided [RCV003230083] ChrX:154563641 [GRCh38]
ChrX:153791856 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.589G>A (p.Val197Met) single nucleotide variant not provided [RCV002293737] ChrX:154560477 [GRCh38]
ChrX:153788692 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002298099] ChrX:154546083 [GRCh38]
ChrX:153774298 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002296233] ChrX:154546079 [GRCh38]
ChrX:153774294 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.636_659del (p.Leu213_Ala220del) deletion not provided [RCV002474247] ChrX:154560517..154560540 [GRCh38]
ChrX:153788732..153788755 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153613883-155233731)x2 copy number gain not provided [RCV002472481] ChrX:153613883..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.-43C>T single nucleotide variant not provided [RCV004585374] ChrX:154546823 [GRCh38]
ChrX:153775038 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305759] ChrX:154546125 [GRCh38]
ChrX:153774340 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305793] ChrX:154546149 [GRCh38]
ChrX:153774364 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305797] ChrX:154546122 [GRCh38]
ChrX:153774337 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305800] ChrX:154546131 [GRCh38]
ChrX:153774346 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3 copy number gain Septo-optic dysplasia sequence [RCV002305872] ChrX:153560562..153864851 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305764] ChrX:154546049 [GRCh38]
ChrX:153774264 [GRCh37]
ChrX:Xq28		 benign
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305784] ChrX:154546864 [GRCh38]
ChrX:153775079 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.120+2955A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305823] ChrX:154543081 [GRCh38]
ChrX:153771296 [GRCh37]
ChrX:Xq28		 benign
NM_001042351.3(G6PD):c.-9+2T>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305753] ChrX:154547466 [GRCh38]
ChrX:153775681 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.94C>G (p.His32Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305802] ChrX:154546062 [GRCh38]
ChrX:153774277 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.120+3126T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305832] ChrX:154542910 [GRCh38]
ChrX:153771125 [GRCh37]
ChrX:Xq28		 benign
NM_001099857.5(IKBKG):c.85G>C (p.Glu29Gln) single nucleotide variant Inborn genetic diseases [RCV002688437] ChrX:154552087 [GRCh38]
ChrX:153780302 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099856.6(IKBKG):c.105_106del (p.Ile36fs) deletion Inborn genetic diseases [RCV002751706] ChrX:154542368..154542369 [GRCh38]
ChrX:153770583..153770584 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003053692] ChrX:154546068 [GRCh38]
ChrX:153774283 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003059144] ChrX:154546077 [GRCh38]
ChrX:153774292 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.1111G>C (p.Ala371Pro) single nucleotide variant Inborn genetic diseases [RCV002788897] ChrX:154564014 [GRCh38]
ChrX:153792229 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.87G>A (p.Ser29=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002602774] ChrX:154546069 [GRCh38]
ChrX:153774284 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.68G>T (p.Gly23Val) single nucleotide variant Inborn genetic diseases [RCV002808224] ChrX:154546088 [GRCh38]
ChrX:153774303 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.21G>A (p.Leu7=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002578973] ChrX:154546135 [GRCh38]
ChrX:153774350 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003143438] ChrX:154546106 [GRCh38]
ChrX:153774321 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.671+3G>C single nucleotide variant not provided [RCV003327744] ChrX:154560562 [GRCh38]
ChrX:153788777 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.51T>C (p.Ser17=) single nucleotide variant Autoinflammatory disease, X-linked [RCV003142405] ChrX:154552053 [GRCh38]
ChrX:153780268 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs) deletion Incontinentia pigmenti syndrome [RCV003328543] ChrX:154556338..154556342 [GRCh38]
ChrX:153784553..153784557 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_001360016.2(G6PD):c.112G>A (p.Gly38Ser) single nucleotide variant not specified [RCV003490884] ChrX:154546044 [GRCh38]
ChrX:153774259 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153606456-153828848)x2 copy number gain not provided [RCV003483991] ChrX:153606456..153828848 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153792456-154110373)x3 copy number gain not provided [RCV003485334] ChrX:153792456..154110373 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153549167-153858492)x2 copy number gain not provided [RCV003483990] ChrX:153549167..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153613883-153862775)x3 copy number gain not provided [RCV003485333] ChrX:153613883..153862775 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_001099857.5(IKBKG):c.84C>T (p.Gly28=) single nucleotide variant not provided [RCV003436882] ChrX:154552086 [GRCh38]
ChrX:153780301 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.121C>G (p.Leu41Val) single nucleotide variant not provided [RCV003436884] ChrX:154552123 [GRCh38]
ChrX:153780338 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.120+14A>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003825231] ChrX:154546022 [GRCh38]
ChrX:153774237 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.-17G>T single nucleotide variant G6PD-related disorder [RCV003411988] ChrX:154546797 [GRCh38]
ChrX:153775012 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.902T>C (p.Leu301Pro) single nucleotide variant not provided [RCV003442642] ChrX:154562943 [GRCh38]
ChrX:153791158 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.9G>C (p.Arg3Ser) single nucleotide variant IKBKG-related disorder [RCV003414525] ChrX:154552011 [GRCh38]
ChrX:153780226 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.1116del (p.Ala373fs) deletion not provided [RCV003443437] ChrX:154564019 [GRCh38]
ChrX:153792234 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.94C>T (p.Pro32Ser) single nucleotide variant not provided [RCV003436883] ChrX:154552096 [GRCh38]
ChrX:153780311 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622307] ChrX:154546083 [GRCh38]
ChrX:153774298 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.60T>C (p.Leu20=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623739] ChrX:154546096 [GRCh38]
ChrX:153774311 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.120+13C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623610] ChrX:154546023 [GRCh38]
ChrX:153774238 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.84G>T (p.Gln28His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003511091] ChrX:154546072 [GRCh38]
ChrX:153774287 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003878300] ChrX:154546115 [GRCh38]
ChrX:153774330 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003841919] ChrX:154546130 [GRCh38]
ChrX:153774345 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153714300-153868484) copy number gain not specified [RCV003986228] ChrX:153714300..153868484 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.-9+9C>A single nucleotide variant G6PD-related disorder [RCV003904630] ChrX:154546780 [GRCh38]
ChrX:153774995 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 copy number loss not provided [RCV004442761] ChrX:121656905..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 copy number loss See cases [RCV004442781] ChrX:125253445..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_001099857.5(IKBKG):c.60G>A (p.Pro20=) single nucleotide variant IKBKG-related disorder [RCV003899044] ChrX:154552062 [GRCh38]
ChrX:153780277 [GRCh37]
ChrX:Xq28		 likely benign
NM_001099857.5(IKBKG):c.7A>C (p.Arg3=) single nucleotide variant IKBKG-related disorder [RCV003922003] ChrX:154552009 [GRCh38]
ChrX:153780224 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_001360016.2(G6PD):c.97A>G (p.Ile33Val) single nucleotide variant not provided [RCV003884024] ChrX:154546059 [GRCh38]
ChrX:153774274 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000402.4(G6PD):c.10C>G (p.Arg4Gly) single nucleotide variant not provided [RCV003887209] ChrX:154546861 [GRCh38]
ChrX:153775076 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.-14G>A single nucleotide variant G6PD-related disorder [RCV003936834] ChrX:154546794 [GRCh38]
ChrX:153775009 [GRCh37]
ChrX:Xq28		 benign
NM_001099857.5(IKBKG):c.373del (p.Val125fs) deletion Incontinentia pigmenti syndrome [RCV004577432] ChrX:154556349 [GRCh38]
ChrX:153784564 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.-32G>T single nucleotide variant Malaria, susceptibility to [RCV004018057] ChrX:154546812 [GRCh38]
ChrX:153775027 [GRCh37]
ChrX:Xq28		 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
NC_000023.10:g.(?_152954030)_(154005142_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV004582960]|Adrenoleukodystrophy [RCV004582961]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV004582959]|Creatine transporter deficiency [RCV004582962]|Dyskeratosis congenita [RCV004582964]|Spastic paraplegia [RCV004582965]|X-linked Emery-Dreifuss muscular dystrophy [RCV004582963] ChrX:152954030..154005142 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.854AGG[2] (p.Glu287del) microsatellite not provided [RCV004590620] ChrX:154562895..154562897 [GRCh38]
ChrX:153791110..153791112 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153592370)_(153775961_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV004578130] ChrX:153592370..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.191C>A (p.Ala64Asp) single nucleotide variant not provided [RCV004775126] ChrX:154556168 [GRCh38]
ChrX:153784383 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.619C>A (p.Gln207Lys) single nucleotide variant not provided [RCV004723879] ChrX:154560507 [GRCh38]
ChrX:153788722 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099856.6(IKBKG):c.128G>C (p.Gly43Ala) single nucleotide variant IKBKG-related disorder [RCV004755556] ChrX:154542391 [GRCh38]
ChrX:153770606 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
NM_001099857.5(IKBKG):c.851T>G (p.Leu284Arg) single nucleotide variant not provided [RCV004774147] ChrX:154562892 [GRCh38]
ChrX:153791107 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x3 copy number gain Intellectual disability, X-linked 41 [RCV004776418] ChrX:154348522..154594454 [GRCh38]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.1238A>G (p.His413Arg) single nucleotide variant not provided [RCV004719569] ChrX:154564439 [GRCh38]
ChrX:153792654 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.256C>T (p.Gln86Ter) single nucleotide variant not provided [RCV004720101] ChrX:154556233 [GRCh38]
ChrX:153784448 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099857.5(IKBKG):c.187+1G>A single nucleotide variant Inborn genetic diseases [RCV004404889] ChrX:154552190 [GRCh38]
ChrX:153780405 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001099856.6(IKBKG):c.156A>G (p.Leu52=) single nucleotide variant IKBKG-related disorder [RCV003962988]|not provided [RCV003438650]|not specified [RCV001001330] ChrX:154542419 [GRCh38]
ChrX:153770634 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_001099857.5(IKBKG):c.1139C>G (p.Ala380Gly) single nucleotide variant Inborn genetic diseases [RCV004404888] ChrX:154564340 [GRCh38]
ChrX:153792555 [GRCh37]
ChrX:Xq28		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12479
Count of miRNA genes:1473
Interacting mature miRNAs:2021
Transcripts:ENST00000263518, ENST00000369601, ENST00000369602, ENST00000369606, ENST00000369607, ENST00000369609, ENST00000393549, ENST00000413620, ENST00000422680, ENST00000424839, ENST00000440286, ENST00000445622, ENST00000455588, ENST00000470142, ENST00000479063, ENST00000490409, ENST00000492469
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
GDB:179459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,778,375 - 153,778,649UniSTSGRCh37
Build 36X153,431,569 - 153,431,843RGDNCBI36
CeleraX153,939,424 - 153,939,698RGD
Cytogenetic MapXq28UniSTS
HuRefX142,354,885 - 142,355,159UniSTS
G65806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,266 - 153,774,923UniSTSGRCh37
Build 36X153,427,460 - 153,428,117RGDNCBI36
CeleraX153,935,315 - 153,935,972RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,694 - 142,351,351UniSTS
G65807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,225 - 153,777,182UniSTSGRCh37
Build 36X153,429,419 - 153,430,376RGDNCBI36
CeleraX153,937,274 - 153,938,231RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,733 - 142,353,690UniSTS
G65810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,193 - 153,774,189UniSTSGRCh37
Build 36X153,426,387 - 153,427,383RGDNCBI36
CeleraX153,934,242 - 153,935,238RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,619 - 142,350,617UniSTS
ECD01380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,868,482 - 153,869,349UniSTSGRCh37
GRCh37X153,791,578 - 153,792,445UniSTSGRCh37
Build 36X153,444,772 - 153,445,639RGDNCBI36
CeleraX153,951,517 - 153,952,384RGD
Cytogenetic MapXq28UniSTS
HuRefX142,413,105 - 142,413,972UniSTS
ECD03042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,873,853 - 153,874,661UniSTSGRCh37
GRCh37X153,786,266 - 153,787,074UniSTSGRCh37
Build 36X153,439,460 - 153,440,268RGDNCBI36
CeleraX153,946,205 - 153,947,013RGD
Cytogenetic MapXq28UniSTS
HuRefX142,418,477 - 142,419,285UniSTS
ECD04249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,877,250 - 153,878,020UniSTSGRCh37
Build 36X153,530,444 - 153,531,214RGDNCBI36
CeleraX154,035,331 - 154,036,101RGD
Cytogenetic MapXq28UniSTS
HuRefX142,421,873 - 142,422,643UniSTS
ECD04749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,880 - 153,769,635UniSTSGRCh37
Build 36X153,422,074 - 153,422,829RGDNCBI36
CeleraX153,929,929 - 153,930,684RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,306 - 142,346,061UniSTS
ECD09144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,870,590 - 153,871,226UniSTSGRCh37
GRCh37X153,789,701 - 153,790,337UniSTSGRCh37
Build 36X153,442,895 - 153,443,531RGDNCBI36
CeleraX153,949,640 - 153,950,276RGD
Cytogenetic MapXq28UniSTS
HuRefX142,415,214 - 142,415,850UniSTS
ECD09693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,095 - 153,774,717UniSTSGRCh37
Build 36X153,427,289 - 153,427,911RGDNCBI36
CeleraX153,935,144 - 153,935,766RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,523 - 142,351,145UniSTS
ECD09981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,779,863 - 153,780,477UniSTSGRCh37
Build 36X153,433,057 - 153,433,671RGDNCBI36
CeleraX153,940,912 - 153,941,526RGD
Cytogenetic MapXq28UniSTS
HuRefX142,356,373 - 142,356,987UniSTS
ECD10306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,992 - 153,771,597UniSTSGRCh37
Build 36X153,424,186 - 153,424,791RGDNCBI36
CeleraX153,932,041 - 153,932,646RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,418 - 142,348,023UniSTS
ECD10822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,804 - 153,776,394UniSTSGRCh37
Build 36X153,428,998 - 153,429,588RGDNCBI36
CeleraX153,936,853 - 153,937,443RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,312 - 142,352,902UniSTS
ECD11020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,872,749 - 153,873,333UniSTSGRCh37
GRCh37X153,787,594 - 153,788,178UniSTSGRCh37
Build 36X153,440,788 - 153,441,372RGDNCBI36
CeleraX153,947,533 - 153,948,117RGD
Cytogenetic MapXq28UniSTS
HuRefX142,417,373 - 142,417,957UniSTS
ECD12483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,216 - 153,773,758UniSTSGRCh37
Build 36X153,426,410 - 153,426,952RGDNCBI36
CeleraX153,934,265 - 153,934,807RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,642 - 142,350,186UniSTS
ECD12484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,876,275 - 153,876,817UniSTSGRCh37
GRCh37X153,784,110 - 153,784,652UniSTSGRCh37
Build 36X153,437,304 - 153,437,846RGDNCBI36
CeleraX154,034,356 - 154,034,898RGD
Cytogenetic MapXq28UniSTS
HuRefX142,420,898 - 142,421,440UniSTS
ECD12881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,867,807 - 153,868,339UniSTSGRCh37
GRCh37X153,792,588 - 153,793,120UniSTSGRCh37
Build 36X153,445,782 - 153,446,314RGDNCBI36
CeleraX153,952,527 - 153,953,059RGD
Cytogenetic MapXq28UniSTS
HuRefX142,412,430 - 142,412,962UniSTS
ECD13704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,876,275 - 153,876,786UniSTSGRCh37
GRCh37X153,784,141 - 153,784,652UniSTSGRCh37
Build 36X153,437,335 - 153,437,846RGDNCBI36
CeleraX154,034,356 - 154,034,867RGD
Cytogenetic MapXq28UniSTS
HuRefX142,420,898 - 142,421,409UniSTS
ECD15690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,781,312 - 153,781,776UniSTSGRCh37
Build 36X153,434,506 - 153,434,970RGDNCBI36
CeleraX153,942,361 - 153,942,825RGD
Cytogenetic MapXq28UniSTS
HuRefX142,357,822 - 142,358,286UniSTS
ECD16402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,966 - 153,770,408UniSTSGRCh37
Build 36X153,423,160 - 153,423,602RGDNCBI36
CeleraX153,931,015 - 153,931,457RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,392 - 142,346,834UniSTS
ECD16915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,780,876 - 153,781,296UniSTSGRCh37
Build 36X153,434,070 - 153,434,490RGDNCBI36
CeleraX153,941,925 - 153,942,345RGD
Cytogenetic MapXq28UniSTS
HuRefX142,357,386 - 142,357,806UniSTS
ECD17262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,287 - 153,775,693UniSTSGRCh37
Build 36X153,428,481 - 153,428,887RGDNCBI36
CeleraX153,936,336 - 153,936,742RGD
Cytogenetic MapXq28UniSTS
ECD17453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,869,709 - 153,870,107UniSTSGRCh37
GRCh37X153,790,820 - 153,791,218UniSTSGRCh37
Build 36X153,444,014 - 153,444,412RGDNCBI36
CeleraX153,950,759 - 153,951,157RGD
Cytogenetic MapXq28UniSTS
HuRefX142,414,333 - 142,414,731UniSTS
ECD17544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,038 - 153,782,432UniSTSGRCh37
Build 36X153,435,232 - 153,435,626RGDNCBI36
CeleraX153,943,087 - 153,943,481RGD
Cytogenetic MapXq28UniSTS
HuRefX142,358,548 - 142,358,942UniSTS
ECD19230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,987 - 153,783,316UniSTSGRCh37
Build 36X153,436,181 - 153,436,510RGDNCBI36
CeleraX153,944,036 - 153,944,365RGD
Cytogenetic MapXq28UniSTS
ECD20333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,543 - 153,770,831UniSTSGRCh37
Build 36X153,423,737 - 153,424,025RGDNCBI36
CeleraX153,931,592 - 153,931,880RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,969 - 142,347,257UniSTS
ECD20755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,872,141 - 153,872,414UniSTSGRCh37
GRCh37X153,788,513 - 153,788,786UniSTSGRCh37
Build 36X153,441,707 - 153,441,980RGDNCBI36
CeleraX153,948,452 - 153,948,725RGD
Cytogenetic MapXq28UniSTS
HuRefX142,416,765 - 142,417,038UniSTS
ECD21671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,772,855 - 153,773,098UniSTSGRCh37
Build 36X153,426,049 - 153,426,292RGDNCBI36
CeleraX153,933,904 - 153,934,147RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,281 - 142,349,524UniSTS
ECD21736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,875,601 - 153,875,842UniSTSGRCh37
GRCh37X153,785,085 - 153,785,326UniSTSGRCh37
Build 36X153,438,279 - 153,438,520RGDNCBI36
CeleraX154,033,682 - 154,033,923RGD
Cytogenetic MapXq28UniSTS
HuRefX142,420,224 - 142,420,465UniSTS
ECD22162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,871,843 - 153,872,070UniSTSGRCh37
GRCh37X153,788,857 - 153,789,084UniSTSGRCh37
Build 36X153,442,051 - 153,442,278RGDNCBI36
CeleraX153,948,796 - 153,949,023RGD
Cytogenetic MapXq28UniSTS
HuRefX142,416,467 - 142,416,694UniSTS
ECD22642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,783,421 - 153,783,634UniSTSGRCh37
Build 36X153,436,615 - 153,436,828RGDNCBI36
CeleraX153,944,470 - 153,944,683RGD
Cytogenetic MapXq28UniSTS
ECD22814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,686 - 153,771,893UniSTSGRCh37
Build 36X153,424,880 - 153,425,087RGDNCBI36
CeleraX153,932,735 - 153,932,942RGD
Cytogenetic MapXq28UniSTS
HuRefX142,348,112 - 142,348,319UniSTS
ECD23372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,697 - 153,769,888UniSTSGRCh37
Build 36X153,422,891 - 153,423,082RGDNCBI36
CeleraX153,930,746 - 153,930,937RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,123 - 142,346,314UniSTS
REN89971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,603 - 153,768,853UniSTSGRCh37
Build 36X153,421,797 - 153,422,047RGDNCBI36
CeleraX153,929,652 - 153,929,902RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,029 - 142,345,279UniSTS
REN89972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,834 - 153,769,095UniSTSGRCh37
Build 36X153,422,028 - 153,422,289RGDNCBI36
CeleraX153,929,883 - 153,930,144RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,260 - 142,345,521UniSTS
REN89973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,071 - 153,769,321UniSTSGRCh37
Build 36X153,422,265 - 153,422,515RGDNCBI36
CeleraX153,930,120 - 153,930,370RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,497 - 142,345,747UniSTS
REN89974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,308 - 153,769,534UniSTSGRCh37
Build 36X153,422,502 - 153,422,728RGDNCBI36
CeleraX153,930,357 - 153,930,583RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,734 - 142,345,960UniSTS
REN89975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,528 - 153,769,767UniSTSGRCh37
Build 36X153,422,722 - 153,422,961RGDNCBI36
CeleraX153,930,577 - 153,930,816RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,954 - 142,346,193UniSTS
REN89976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,740 - 153,769,989UniSTSGRCh37
Build 36X153,422,934 - 153,423,183RGDNCBI36
CeleraX153,930,789 - 153,931,038RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,166 - 142,346,415UniSTS
REN89977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,955 - 153,770,182UniSTSGRCh37
Build 36X153,423,149 - 153,423,376RGDNCBI36
CeleraX153,931,004 - 153,931,231RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,381 - 142,346,608UniSTS
REN89978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,150 - 153,770,399UniSTSGRCh37
Build 36X153,423,344 - 153,423,593RGDNCBI36
CeleraX153,931,199 - 153,931,448RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,576 - 142,346,825UniSTS
REN89979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,383 - 153,770,640UniSTSGRCh37
Build 36X153,423,577 - 153,423,834RGDNCBI36
CeleraX153,931,432 - 153,931,689RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,809 - 142,347,066UniSTS
REN89980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,605 - 153,770,838UniSTSGRCh37
Build 36X153,423,799 - 153,424,032RGDNCBI36
CeleraX153,931,654 - 153,931,887RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,031 - 142,347,264UniSTS
REN89981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,805 - 153,771,063UniSTSGRCh37
Build 36X153,423,999 - 153,424,257RGDNCBI36
CeleraX153,931,854 - 153,932,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,231 - 142,347,489UniSTS
REN89982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,030 - 153,771,259UniSTSGRCh37
Build 36X153,424,224 - 153,424,453RGDNCBI36
CeleraX153,932,079 - 153,932,308RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,456 - 142,347,685UniSTS
REN89983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,222 - 153,771,484UniSTSGRCh37
Build 36X153,424,416 - 153,424,678RGDNCBI36
CeleraX153,932,271 - 153,932,533RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,648 - 142,347,910UniSTS
REN89984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,461 - 153,771,710UniSTSGRCh37
Build 36X153,424,655 - 153,424,904RGDNCBI36
CeleraX153,932,510 - 153,932,759RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,887 - 142,348,136UniSTS
REN89985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,678 - 153,771,907UniSTSGRCh37
Build 36X153,424,872 - 153,425,101RGDNCBI36
CeleraX153,932,727 - 153,932,956RGD
Cytogenetic MapXq28UniSTS
HuRefX142,348,104 - 142,348,333UniSTS
REN89986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,845 - 153,772,074UniSTSGRCh37
Build 36X153,425,039 - 153,425,268RGDNCBI36