IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta) Homo sapiens
Analyze
Symbol: IKBKB
Name: inhibitor of nuclear factor kappa B kinase subunit beta
RGD ID: 733968
HGNC Page HGNC:5960
Description: Enables several functions, including IkappaB kinase activity; protein dimerization activity; and scaffold protein binding activity. Involved in several processes, including cytokine-mediated signaling pathway; negative regulation of bicellular tight junction assembly; and positive regulation of canonical NF-kappaB signal transduction. Located in cytosol. Is active in cytoplasm. Implicated in several diseases, including breast cancer; combined immunodeficiency (multiple); liver cancer; prostate cancer (multiple); and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ33771; FLJ36218; FLJ38368; FLJ40509; I-kappa-B kinase 2; I-kappa-B-kinase beta; IKK-2; IKK-B; IKK-beta; IKK2; IKKB; IMD15; IMD15A; IMD15B; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta; inhibitor of nuclear factor kappa-B kinase subunit beta; MGC131801; NFKBIKB; nuclear factor kappa B kinase subunit beta; nuclear factor NF-kappa-B inhibitor kinase beta; serine/threonine protein kinase IKBKB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38842,271,302 - 42,332,460 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl842,271,302 - 42,332,460 (+)EnsemblGRCh38hg38GRCh38
GRCh37842,128,820 - 42,189,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36842,247,986 - 42,309,122 (+)NCBINCBI36Build 36hg18NCBI36
Build 34842,247,985 - 42,309,122NCBI
Celera841,077,798 - 41,138,835 (+)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef840,656,604 - 40,717,697 (+)NCBIHuRef
CHM1_1842,177,451 - 42,238,764 (+)NCBICHM1_1
T2T-CHM13v2.0842,545,654 - 42,606,501 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-artemisinin  (EXP)
(+)-catechin  (ISO)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(1->4)-beta-D-glucan  (ISO)
(R,R,R)-alpha-tocopherol  (EXP)
(S)-colchicine  (EXP,ISO)
(S)-naringenin  (ISO)
1'-acetoxychavicol acetate  (EXP)
1,2-dimethylhydrazine  (ISO)
1,2-naphthoquinone  (ISO)
1,4-dithiothreitol  (EXP,ISO)
15-oxo-ETE  (EXP)
17beta-estradiol  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (EXP)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-palmitoylglycerol  (EXP)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dihydroxybenzoic acid  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-phenylprop-2-enal  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (EXP)
[6]-Shogaol  (EXP)
acetylsalicylic acid  (EXP,ISO)
acrolein  (EXP)
afatinib  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
aldehydo-D-ribose  (ISO)
all-trans-retinoic acid  (EXP)
allopurinol  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
Anemoside B4  (ISO)
anethole  (EXP)
aniline  (ISO)
anthocyanin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apigenin  (EXP,ISO)
aristolochic acid A  (EXP)
arjunolic acid  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenic trichloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
Atractylodin  (EXP,ISO)
azadirachtin A  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-D-glucosamine  (ISO)
beta-D-glucosamine 6-sulfate  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
butylated hydroxyanisole  (ISO)
butyric acid  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
cannabidiol  (EXP)
carbon atom  (EXP)
carbon nanotube  (ISO)
Carnosol  (EXP)
carvedilol  (ISO)
cefoxitin  (ISO)
cerium trichloride  (ISO)
chloroquine  (EXP)
chromium atom  (ISO)
chromium(6+)  (ISO)
chrysin  (EXP)
cisplatin  (EXP,ISO)
cocaine  (ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
curcumin  (EXP,ISO)
cytochalasin D  (EXP)
D-glucose  (ISO)
D-ribofuranose  (ISO)
deferiprone  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diclofenac  (ISO)
dimercaprol  (EXP)
dimethyl fumarate  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dipyridamole  (ISO)
doxorubicin  (EXP,ISO)
elemental carbon  (EXP)
elemental selenium  (EXP,ISO)
emamectin benzoate  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
etoposide  (EXP,ISO)
eugenol  (ISO)
Evodiamine  (EXP)
farnesol  (ISO)
febuxostat  (ISO)
filipin III  (ISO)
flavonoids  (ISO)
fluorescein 5-isothiocyanate  (EXP)
folic acid  (ISO)
folpet  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
Fusaric acid  (EXP)
gallic acid  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
ginsenoside Re  (ISO)
glucose  (ISO)
glutathione  (ISO)
homoeriodictyol  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (ISO)
ibrutinib  (EXP)
indole-3-methanol  (EXP)
indometacin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
iron(2+) sulfate (anhydrous)  (ISO)
Isorhapontigenin  (ISO)
JBIR-99  (EXP)
L-1,4-dithiothreitol  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP,ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
mangiferin  (EXP,ISO)
melittin  (EXP,ISO)
metformin  (EXP)
methapyrilene  (EXP,ISO)
methoxyacetic acid  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
metronidazole  (ISO)
miquelianin  (EXP)
Monobutylphthalate  (ISO)
monosodium L-glutamate  (ISO)
monotropein  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-[3,5-bis(trifluoromethyl)phenyl]-5-chloro-2-hydroxybenzamide  (EXP,ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
neratinib  (EXP)
nickel dichloride  (EXP,ISO)
niclosamide  (EXP)
nitroprusside  (EXP,ISO)
Nonylphenol  (EXP,ISO)
notoginsenoside R1  (ISO)
o-anisidine  (EXP)
ozone  (EXP,ISO)
paclitaxel  (EXP,ISO)
Paeonol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parthenolide  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pifithrin-?  (ISO)
pioglitazone  (EXP)
platycodin D  (EXP)
potassium chromate  (EXP)
progesterone  (ISO)
protein kinase inhibitor  (EXP)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (EXP,ISO)
reactive oxygen species  (EXP,ISO)
resiquimod  (EXP)
resveratrol  (EXP,ISO)
rocaglamide  (EXP)
rotenone  (ISO)
SB 203580  (ISO)
selenium atom  (EXP,ISO)
selenomethionine  (EXP)
silicon dioxide  (ISO)
simvastatin  (EXP)
sodium acetate trihydrate  (ISO)
sodium arsenite  (EXP,ISO)
sodium aurothiomalate  (ISO)
sodium propionate  (ISO)
Sodium salicylate  (EXP,ISO)
sulfasalazine  (EXP)
sulfur dioxide  (EXP)
sulindac  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
taurine  (ISO)
testosterone  (EXP)
titanium dioxide  (EXP,ISO)
trans-anethole  (EXP)
Triptolide  (ISO)
triptonide  (EXP,ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
umbelliferone  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vincaleukoblastine  (EXP)
vorinostat  (EXP)
wedelolactone  (EXP)
wogonin  (ISO)
zerumbone  (EXP)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  (TAS)
B cell homeostasis  (ISO)
canonical NF-kappaB signal transduction  (IDA,IMP,TAS)
cellular response to tumor necrosis factor  (IDA)
cortical actin cytoskeleton organization  (IMP)
Fc-epsilon receptor signaling pathway  (TAS)
inflammatory response  (TAS)
innate immune response  (TAS)
integrin-mediated signaling pathway  (ISO)
interleukin-1-mediated signaling pathway  (IMP,TAS)
MyD88-dependent toll-like receptor signaling pathway  (TAS)
negative regulation of bicellular tight junction assembly  (IMP)
neuron projection development  (ISO)
positive regulation of canonical NF-kappaB signal transduction  (IDA,IMP)
positive regulation of cell population proliferation  (ISO)
positive regulation of DNA-templated transcription  (NAS)
positive regulation of macromolecule metabolic process  (IEA)
positive regulation of neuron projection development  (ISO)
positive regulation of NF-kappaB transcription factor activity  (ISO)
positive regulation of sodium ion transport  (ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA)
protein localization to plasma membrane  (IMP)
protein maturation  (IDA)
regulation of establishment of endothelial barrier  (IMP)
regulation of protein modification process  (IEA)
regulation of tumor necrosis factor-mediated signaling pathway  (TAS)
response to cholecystokinin  (ISO)
response to fatty acid  (ISO)
response to lipopolysaccharide  (ISO)
response to toxic substance  (ISO)
response to virus  (TAS)
response to xenobiotic stimulus  (ISO)
skeletal muscle contraction  (ISO)
stimulatory C-type lectin receptor signaling pathway  (TAS)
stress-activated MAPK cascade  (TAS)
T cell receptor signaling pathway  (TAS)
toll-like receptor 3 signaling pathway  (TAS)
TRIF-dependent toll-like receptor signaling pathway  (TAS)
tumor necrosis factor-mediated signaling pathway  (IBA,IEA,IMP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. 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.
2. Constitutive IKK2 activation in acinar cells is sufficient to induce pancreatitis in vivo. Baumann B, etal., J Clin Invest. 2007 Jun;117(6):1502-13. Epub 2007 May 24.
3. IKKbeta-dependent NF-kappaB pathway controls vascular inflammation and intimal hyperplasia. Bu DX, etal., FASEB J. 2005 Aug;19(10):1293-5. Epub 2005 Jun 6.
4. Local and systemic insulin resistance resulting from hepatic activation of IKK-beta and NF-kappaB. Cai D, etal., Nat Med. 2005 Feb;11(2):183-90. Epub 2005 Jan 30.
5. Ischemic preconditioning attenuates renal ischemia-reperfusion injury by inhibiting activation of IKKbeta and inflammatory response. Chen X, etal., Am J Nephrol. 2009;30(3):287-94. doi: 10.1159/000225928. Epub 2009 Jun 16.
6. An NF-κB pathway-mediated positive feedback loop amplifies Ras activity to pathological levels in mice. Daniluk J, etal., J Clin Invest. 2012 Apr;122(4):1519-28. doi: 10.1172/JCI59743. Epub 2012 Mar 12.
7. Imidazo[4,5-d]thiazolo[5,4-b]pyridine based inhibitors of IKK2: synthesis, SAR, PK/PD and activity in a preclinical model of rheumatoid arthritis. Dyckman AJ, etal., Bioorg Med Chem Lett. 2011 Jan 1;21(1):383-6. doi: 10.1016/j.bmcl.2010.10.133. Epub 2010 Oct 31.
8. Glutamine inhibits over-expression of pro-inflammatory genes and down-regulates the nuclear factor kappaB pathway in an experimental model of colitis in the rat. Fillmann H, etal., Toxicology. 2007 Jul 17;236(3):217-26. Epub 2007 Apr 27.
9. Periodic, partial inhibition of IkappaB Kinase beta-mediated signaling yields therapeutic benefit in preclinical models of rheumatoid arthritis. Gillooly KM, etal., J Pharmacol Exp Ther. 2009 Nov;331(2):349-60. doi: 10.1124/jpet.109.156018. Epub 2009 Aug 3.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Heat treatment improves glucose tolerance and prevents skeletal muscle insulin resistance in rats fed a high-fat diet. Gupte AA, etal., Diabetes. 2009 Mar;58(3):567-78. doi: 10.2337/db08-1070. Epub 2008 Dec 10.
12. Shared principles in NF-kappaB signaling. Hayden MS and Ghosh S, Cell. 2008 Feb 8;132(3):344-62.
13. The Nrf2 regulatory network provides an interface between redox and intermediary metabolism. Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
14. IKK mediates ischemia-induced neuronal death. Herrmann O, etal., Nat Med. 2005 Dec;11(12):1322-9. Epub 2005 Nov 13.
15. Elevated expression of tumor necrosis factor-alpha signaling molecules in colonic tumors of Zucker obese (fa/fa) rats. Jain SS and Bird RP, Int J Cancer. 2010 Nov 1;127(9):2042-50. doi: 10.1002/ijc.25232.
16. Experimental study on early protective effect of ischemic preconditioning on rat kidney graft. Jia RP, etal., Transplant Proc. 2009 Jan-Feb;41(1):69-72. doi: 10.1016/j.transproceed.2008.11.001.
17. Brain nuclear factor-kappa B activation contributes to neurohumoral excitation in angiotensin II-induced hypertension. Kang YM, etal., Cardiovasc Res. 2009 Jun 1;82(3):503-12. doi: 10.1093/cvr/cvp073. Epub 2009 Feb 25.
18. KrasG12D-induced IKK2/β/NF-κB activation by IL-1α and p62 feedforward loops is required for development of pancreatic ductal adenocarcinoma. Ling J, etal., Cancer Cell. 2012 Jan 17;21(1):105-20. doi: 10.1016/j.ccr.2011.12.006.
19. IKK2 inhibition attenuates laser-induced choroidal neovascularization. Lu H, etal., PLoS One. 2014 Jan 28;9(1):e87530. doi: 10.1371/journal.pone.0087530. eCollection 2014.
20. Crosstalk between the canonical NF-κB and Notch signaling pathways inhibits Pparγ expression and promotes pancreatic cancer progression in mice. Maniati E, etal., J Clin Invest. 2011 Dec;121(12):4685-99. doi: 10.1172/JCI45797. Epub 2011 Nov 7.
21. Acetylpuerarin reduces inflammation and improves memory function in a rat model of Alzheimer's disease induced by Abeta1-42. Meng QH, etal., Pharmazie. 2013 Nov;68(11):904-8.
22. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
23. Donor antigen-loaded IKK2dn gene-modified dendritic cells prolong allograft survival. Ouyang J, etal., Scand J Immunol. 2010 May;71(5):336-44.
24. IKKbeta leads to an inflammatory skin disease resembling interface dermatitis. Page A, etal., J Invest Dermatol. 2010 Jun;130(6):1598-610. doi: 10.1038/jid.2010.28. Epub 2010 Mar 4.
25. TNF-mediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2. Pasparakis M, etal., Nature. 2002 Jun 20;417(6891):861-6.
26. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
27. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
28. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
29. [Influence of electroacupuncture intervention on hippocampal IL-1beta content and I kappa B kinase beta expression in focal cerebral ischemia/reperfusion rats]. Qin WY, etal., Zhen Ci Yan Jiu. 2013 Aug;38(4):271-6.
30. Anti-inflammatory effect of a selective IkappaB kinase-beta inhibitor in rat lung in response to LPS and cigarette smoke. Rajendrasozhan S, etal., Pulm Pharmacol Ther. 2010 Jun;23(3):172-81. doi: 10.1016/j.pupt.2010.01.002. Epub 2010 Jan 18.
31. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
32. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
33. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
34. Xanthine oxidase-induced oxidative stress causes activation of NF-kappaB and inflammation in the liver of type I diabetic rats. Romagnoli M, etal., Free Radic Biol Med. 2010 Jul 15;49(2):171-7. doi: 10.1016/j.freeradbiomed.2010.03.024. Epub 2010 Mar 31.
35. Apigenin blocks IKKa activation and suppresses prostate cancer progression. Shukla S, etal., Oncotarget. 2015 Oct 13;6(31):31216-32. doi: 10.18632/oncotarget.5157.
36. Genetic variation in genes involved in hormones, inflammation, and energetic factors and breast cancer risk in an admixed population. Slattery M, etal., Carcinogenesis. 2012 May 4.
37. Localized inflammatory skin disease following inducible ablation of I kappa B kinase 2 in murine epidermis. Stratis A, etal., J Invest Dermatol. 2006 Mar;126(3):614-20.
38. The IkappaB kinases IKKalpha and IKKbeta are necessary and sufficient for skeletal muscle atrophy. Van Gammeren D, etal., FASEB J. 2009 Feb;23(2):362-70. doi: 10.1096/fj.08-114249. Epub 2008 Sep 30.
39. Tumor necrosis factor signaling. Wajant H, etal., Cell Death Differ. 2003 Jan;10(1):45-65.
40. Novel tricyclic inhibitors of IKK2: discovery and SAR leading to the identification of 2-methoxy-N-((6-(1-methyl-4-(methylamino)-1,6-dihydroimidazo[4,5-d]pyrrolo[2,3-b] pyridin-7-yl)pyridin-2-yl)methyl)acetamide (BMS-066). Watterson SH, etal., Bioorg Med Chem Lett. 2011 Dec 1;21(23):7006-12. doi: 10.1016/j.bmcl.2011.09.111. Epub 2011 Oct 5.
41. Molecular determinants of melanoma malignancy: selecting targets for improved efficacy of chemotherapy. Yang J, etal., Mol Cancer Ther. 2009 Mar;8(3):636-47. doi: 10.1158/1535-7163.MCT-08-0749. Epub 2009 Mar 10.
42. Targeting I¿B Kinase ß/NF-¿B Signaling in Human Prostate Cancer by a Novel I¿B Kinase ß Inhibitor CmpdA. Zhang Y, etal., Mol Cancer Ther. 2016 Jul;15(7):1504-14. doi: 10.1158/1535-7163.MCT-15-0999. Epub 2016 Apr 8.
Additional References at PubMed
PMID:8601309   PMID:8657102   PMID:9214631   PMID:9252186   PMID:9346241   PMID:9346484   PMID:9346485   PMID:9520446   PMID:9632806   PMID:9689078   PMID:9721103   PMID:9744859  
PMID:9751059   PMID:9751060   PMID:9763654   PMID:9804806   PMID:9813230   PMID:9819420   PMID:9878263   PMID:9891086   PMID:9914500   PMID:10022904   PMID:10195894   PMID:10356400  
PMID:10469655   PMID:10485711   PMID:10521409   PMID:10713178   PMID:10722755   PMID:10723127   PMID:10733566   PMID:10755617   PMID:10779355   PMID:10783893   PMID:10807933   PMID:10848580  
PMID:10962033   PMID:10968790   PMID:10980203   PMID:11002417   PMID:11057907   PMID:11080499   PMID:11096118   PMID:11113112   PMID:11120819   PMID:11158290   PMID:11278268   PMID:11297557  
PMID:11359906   PMID:11429546   PMID:11460167   PMID:11527961   PMID:11585904   PMID:11594795   PMID:11606564   PMID:11777949   PMID:11815618   PMID:11821416   PMID:11830587   PMID:11839743  
PMID:11864612   PMID:11945026   PMID:11954826   PMID:11959143   PMID:11971985   PMID:11976329   PMID:12034707   PMID:12054687   PMID:12070292   PMID:12133833   PMID:12210728   PMID:12244103  
PMID:12351658   PMID:12393548   PMID:12411322   PMID:12459277   PMID:12477932   PMID:12482991   PMID:12486103   PMID:12486112   PMID:12492477   PMID:12547194   PMID:12589056   PMID:12612076  
PMID:12624112   PMID:12637324   PMID:12645577   PMID:12657630   PMID:12707358   PMID:12709429   PMID:12842894   PMID:12890679   PMID:12943667   PMID:14514672   PMID:14560022   PMID:14585846  
PMID:14585847   PMID:14585990   PMID:14597638   PMID:14625285   PMID:14654787   PMID:14673179   PMID:14695475   PMID:14702039   PMID:14715628   PMID:14743216   PMID:14990741   PMID:15084260  
PMID:15125833   PMID:15125834   PMID:15128824   PMID:15140882   PMID:15184390   PMID:15217903   PMID:15217951   PMID:15218148   PMID:15226300   PMID:15254232   PMID:15276183   PMID:15319427  
PMID:15383283   PMID:15383541   PMID:15389287   PMID:15456791   PMID:15456896   PMID:15489227   PMID:15489334   PMID:15492226   PMID:15494311   PMID:15564333   PMID:15601829   PMID:15749833  
PMID:15761153   PMID:15790681   PMID:15802604   PMID:15808510   PMID:15837793   PMID:15856005   PMID:15856023   PMID:15880043   PMID:15919917   PMID:15951441   PMID:16024783   PMID:16046471  
PMID:16051665   PMID:16082226   PMID:16123045   PMID:16126728   PMID:16129692   PMID:16135815   PMID:16177806   PMID:16207722   PMID:16267042   PMID:16280329   PMID:16286467   PMID:16291755  
PMID:16319058   PMID:16344560   PMID:16365431   PMID:16393995   PMID:16497931   PMID:16547522   PMID:16583354   PMID:16603398   PMID:16611882   PMID:16728640   PMID:16840786   PMID:16906147  
PMID:16920630   PMID:16938294   PMID:16966325   PMID:16982623   PMID:16989899   PMID:16997282   PMID:16998237   PMID:17000764   PMID:17016640   PMID:17047224   PMID:17079871   PMID:17114296  
PMID:17145747   PMID:17182689   PMID:17213322   PMID:17237423   PMID:17244613   PMID:17287217   PMID:17363905   PMID:17363973   PMID:17419715   PMID:17466952   PMID:17568778   PMID:17616684  
PMID:17684021   PMID:17693255   PMID:17703412   PMID:17705188   PMID:17939994   PMID:17947699   PMID:17977820   PMID:17997719   PMID:18029348   PMID:18037881   PMID:18163512   PMID:18180283  
PMID:18198944   PMID:18202307   PMID:18207244   PMID:18260825   PMID:18266324   PMID:18266467   PMID:18308615   PMID:18316610   PMID:18362886   PMID:18375836   PMID:18408758   PMID:18411264  
PMID:18434448   PMID:18450452   PMID:18456659   PMID:18462684   PMID:18490760   PMID:18519641   PMID:18539148   PMID:18542057   PMID:18571841   PMID:18583959   PMID:18593939   PMID:18600306  
PMID:18626576   PMID:18636537   PMID:18657515   PMID:18692471   PMID:18723677   PMID:18930133   PMID:18949366   PMID:18952604   PMID:18957422   PMID:18981174   PMID:18990758   PMID:19050262  
PMID:19104039   PMID:19109741   PMID:19118383   PMID:19141566   PMID:19150425   PMID:19196987   PMID:19202066   PMID:19243472   PMID:19258923   PMID:19270264   PMID:19345327   PMID:19365808  
PMID:19422324   PMID:19453261   PMID:19488402   PMID:19526344   PMID:19573080   PMID:19591457   PMID:19594441   PMID:19596656   PMID:19656241   PMID:19666608   PMID:19675099   PMID:19706536  
PMID:19716809   PMID:19728335   PMID:19730683   PMID:19773279   PMID:19786027   PMID:19815509   PMID:19818716   PMID:19820708   PMID:19883646   PMID:19959994   PMID:20005846   PMID:20007573  
PMID:20026656   PMID:20051109   PMID:20056178   PMID:20068038   PMID:20098747   PMID:20145131   PMID:20152798   PMID:20164171   PMID:20167598   PMID:20176108   PMID:20211142   PMID:20331378  
PMID:20347815   PMID:20368414   PMID:20371626   PMID:20410276   PMID:20421348   PMID:20434986   PMID:20448038   PMID:20448286   PMID:20449947   PMID:20465575   PMID:20503287   PMID:20529849  
PMID:20568250   PMID:20600852   PMID:20614026   PMID:20627395   PMID:20657549   PMID:20693425   PMID:20797629   PMID:20803413   PMID:20856938   PMID:20925653   PMID:20932476   PMID:20933503  
PMID:20977779   PMID:21029719   PMID:21048031   PMID:21204785   PMID:21220427   PMID:21248029   PMID:21317297   PMID:21331078   PMID:21344388   PMID:21390216   PMID:21399639   PMID:21423167  
PMID:21455180   PMID:21474709   PMID:21482671   PMID:21575199   PMID:21606193   PMID:21606198   PMID:21670849   PMID:21703539   PMID:21724995   PMID:21765415   PMID:21784860   PMID:21798539  
PMID:21803029   PMID:21810613   PMID:21811235   PMID:21873635   PMID:21903422   PMID:21911292   PMID:21985298   PMID:21987722   PMID:21988832   PMID:21993219   PMID:22022389   PMID:22037600  
PMID:22099304   PMID:22199357   PMID:22262057   PMID:22331067   PMID:22435562   PMID:22511786   PMID:22536447   PMID:22605335   PMID:22637744   PMID:22689577   PMID:22748238   PMID:22766331  
PMID:22810585   PMID:22824620   PMID:22848663   PMID:22863883   PMID:22891964   PMID:22904686   PMID:22955948   PMID:22990857   PMID:23007157   PMID:23016877   PMID:23017601   PMID:23032264  
PMID:23069812   PMID:23090968   PMID:23091055   PMID:23104095   PMID:23108365   PMID:23123196   PMID:23131831   PMID:23178494   PMID:23349803   PMID:23375009   PMID:23386606   PMID:23453807  
PMID:23453969   PMID:23506214   PMID:23555914   PMID:23589370   PMID:23613522   PMID:23636414   PMID:23732909   PMID:23743204   PMID:23774506   PMID:23776175   PMID:23776406   PMID:23792959  
PMID:23816567   PMID:23817200   PMID:23872070   PMID:23963361   PMID:23974204   PMID:23986494   PMID:24086395   PMID:24155403   PMID:24240172   PMID:24266532   PMID:24270572   PMID:24322982  
PMID:24337575   PMID:24369075   PMID:24386391   PMID:24450414   PMID:24469399   PMID:24550137   PMID:24553260   PMID:24561578   PMID:24586253   PMID:24611898   PMID:24613833   PMID:24618592  
PMID:24721172   PMID:24755559   PMID:24811176   PMID:24854552   PMID:24865276   PMID:24874739   PMID:24911653   PMID:24912152   PMID:24912525   PMID:24981452   PMID:25036637   PMID:25039491  
PMID:25049379   PMID:25064159   PMID:25066210   PMID:25096806   PMID:25107905   PMID:25139357   PMID:25241761   PMID:25286246   PMID:25304104   PMID:25326418   PMID:25326420   PMID:25326706  
PMID:25400026   PMID:25432706   PMID:25486864   PMID:25544563   PMID:25595906   PMID:25620704   PMID:25630970   PMID:25636800   PMID:25642822   PMID:25652452   PMID:25735744   PMID:25748427  
PMID:25759022   PMID:25816133   PMID:25852190   PMID:25926686   PMID:25946971   PMID:25979343   PMID:26020802   PMID:26031809   PMID:26060140   PMID:26075907   PMID:26106822   PMID:26167925  
PMID:26212789   PMID:26221961   PMID:26240016   PMID:26267322   PMID:26301506   PMID:26334375   PMID:26427514   PMID:26433127   PMID:26496610   PMID:26500060   PMID:26603838   PMID:26647777  
PMID:26669856   PMID:26676942   PMID:26718331   PMID:26740240   PMID:26757982   PMID:26802121   PMID:26859364   PMID:26895469   PMID:26914121   PMID:26945075   PMID:27196294   PMID:27307491  
PMID:27387502   PMID:27426725   PMID:27497262   PMID:27538525   PMID:27545878   PMID:27577074   PMID:27585591   PMID:27605665   PMID:27639126   PMID:27693634   PMID:27883176   PMID:27929056  
PMID:27931154   PMID:28107677   PMID:28190767   PMID:28214532   PMID:28249776   PMID:28278500   PMID:28428115   PMID:28480888   PMID:28499869   PMID:28514442   PMID:28689659   PMID:28722693  
PMID:28808806   PMID:28973132   PMID:29084252   PMID:29111346   PMID:29254797   PMID:29255244   PMID:29367460   PMID:29474632   PMID:29630899   PMID:29650758   PMID:29667579   PMID:29748387  
PMID:29935185   PMID:29958295   PMID:30126895   PMID:30177839   PMID:30254148   PMID:30335863   PMID:30337470   PMID:30404796   PMID:30420664   PMID:30467221   PMID:30480076   PMID:30483769  
PMID:30500824   PMID:30560335   PMID:30561431   PMID:30585254   PMID:30760575   PMID:30762338   PMID:30833792   PMID:30913450   PMID:31091453   PMID:31127032   PMID:31145594   PMID:31406107  
PMID:31481750   PMID:31932854   PMID:31950832   PMID:31985874   PMID:32017069   PMID:32019925   PMID:32024699   PMID:32221968   PMID:32235678   PMID:32239614   PMID:32298923   PMID:32410369  
PMID:32554083   PMID:32555320   PMID:32699255   PMID:32707033   PMID:32731169   PMID:32759710   PMID:32791689   PMID:32823550   PMID:32889079   PMID:32935379   PMID:32949647   PMID:33027922  
PMID:33060560   PMID:33226912   PMID:33441820   PMID:33461590   PMID:33469115   PMID:33545068   PMID:33658989   PMID:33723219   PMID:33815386   PMID:33895773   PMID:33961781   PMID:34079125  
PMID:34124911   PMID:34158377   PMID:34187905   PMID:34325714   PMID:34535633   PMID:34737366   PMID:34839354   PMID:34865098   PMID:34994235   PMID:35083662   PMID:35271311   PMID:35339487  
PMID:35563538   PMID:35589698   PMID:35831314   PMID:35918322   PMID:35952808   PMID:36096451   PMID:36098982   PMID:36215168   PMID:36268590   PMID:36309088   PMID:36384135   PMID:36528060  
PMID:36720498   PMID:36736316   PMID:36799490   PMID:36894068   PMID:36916940   PMID:36923932   PMID:37190063   PMID:37930783  


Genomics

Comparative Map Data
IKBKB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38842,271,302 - 42,332,460 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl842,271,302 - 42,332,460 (+)EnsemblGRCh38hg38GRCh38
GRCh37842,128,820 - 42,189,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36842,247,986 - 42,309,122 (+)NCBINCBI36Build 36hg18NCBI36
Build 34842,247,985 - 42,309,122NCBI
Celera841,077,798 - 41,138,835 (+)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef840,656,604 - 40,717,697 (+)NCBIHuRef
CHM1_1842,177,451 - 42,238,764 (+)NCBICHM1_1
T2T-CHM13v2.0842,545,654 - 42,606,501 (+)NCBIT2T-CHM13v2.0
Ikbkb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39823,149,228 - 23,196,605 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl823,149,228 - 23,196,605 (-)EnsemblGRCm39 Ensembl
GRCm38822,659,205 - 22,706,589 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl822,659,212 - 22,706,589 (-)EnsemblGRCm38mm10GRCm38
MGSCv37823,769,677 - 23,817,055 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36824,125,308 - 24,172,108 (-)NCBIMGSCv36mm8
Celera824,149,472 - 24,196,863 (-)NCBICelera
Cytogenetic Map8A2NCBI
cM Map811.42NCBI
Ikbkb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81676,021,968 - 76,075,717 (+)NCBIGRCr8
mRatBN7.21669,319,487 - 69,373,251 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1669,319,554 - 69,373,250 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1674,593,277 - 74,646,961 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01678,025,765 - 78,078,546 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01673,274,913 - 73,327,717 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01674,177,233 - 74,230,809 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1674,177,215 - 74,230,815 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01673,809,854 - 73,863,636 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41673,804,730 - 73,858,510 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11673,805,346 - 73,858,348 (+)NCBI
Celera1667,214,025 - 67,266,348 (+)NCBICelera
Cytogenetic Map16q12.5NCBI
Ikbkb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955536612,774 - 658,647 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955536611,965 - 658,647 (-)NCBIChiLan1.0ChiLan1.0
IKBKB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2760,723,875 - 60,784,734 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1836,441,096 - 36,501,335 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0841,515,613 - 41,576,229 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1838,960,594 - 39,020,971 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl838,960,594 - 39,020,971 (+)Ensemblpanpan1.1panPan2
IKBKB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11623,359,551 - 23,419,114 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1623,359,813 - 23,419,075 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1623,864,109 - 23,923,669 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01625,108,158 - 25,167,347 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1625,108,158 - 25,167,336 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11623,479,268 - 23,538,442 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01624,042,615 - 24,101,962 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01624,093,332 - 24,152,694 (-)NCBIUU_Cfam_GSD_1.0
Ikbkb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494346,401,726 - 46,450,359 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936785356,168 - 406,773 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936785358,128 - 406,751 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IKBKB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1711,289,690 - 11,348,549 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11711,289,607 - 11,348,557 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21713,063,170 - 13,101,270 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IKBKB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1840,267,532 - 40,325,282 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl840,268,079 - 40,326,381 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660521,461,878 - 1,520,432 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ikbkb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624780923,744 - 970,519 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624780922,524 - 978,687 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IKBKB
631 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001556.3(IKBKB):c.718G>A (p.Glu240Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000542774] Chr8:42314347 [GRCh38]
Chr8:42171865 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1702A>C (p.Arg568=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000532457]|not provided [RCV001091601] Chr8:42321909 [GRCh38]
Chr8:42179427 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_001556.3(IKBKB):c.1292dup (p.Gln432fs) duplication IKBKB-related condition [RCV003945040]|Severe combined immunodeficiency due to IKK2 deficiency [RCV000088681] Chr8:42318599..42318600 [GRCh38]
Chr8:42176117..42176118 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.692+16G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001495021] Chr8:42309041 [GRCh38]
Chr8:42166559 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21		 pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p11.21(chr8:42037723-42900363)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|See cases [RCV000052169] Chr8:42037723..42900363 [GRCh38]
Chr8:41895241..42755506 [GRCh37]
Chr8:42014398..42874663 [NCBI36]
Chr8:8p11.21		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3 copy number gain See cases [RCV000053648] Chr8:37899430..42371734 [GRCh38]
Chr8:37756948..42229252 [GRCh37]
Chr8:37876106..42348409 [NCBI36]
Chr8:8p11.23-11.21		 pathogenic
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 copy number gain See cases [RCV000053650] Chr8:39981424..43532444 [GRCh38]
Chr8:39838943..43387587 [GRCh37]
Chr8:39958100..43506744 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|See cases [RCV000053651] Chr8:41547961..48178799 [GRCh38]
Chr8:41405480..49091359 [GRCh37]
Chr8:41524637..49253912 [NCBI36]
Chr8:8p11.21-q11.21		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 copy number gain See cases [RCV000053652] Chr8:41845699..47893948 [GRCh38]
Chr8:41703217..48806508 [GRCh37]
Chr8:41822374..48969061 [NCBI36]
Chr8:8p11.21-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_001556.3(IKBKB):c.1819G>C (p.Val607Leu) single nucleotide variant IKBKB-related condition [RCV003392507]|Severe combined immunodeficiency due to IKK2 deficiency [RCV000660481] Chr8:42322134 [GRCh38]
Chr8:42179652 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000660482] Chr8:42326070 [GRCh38]
Chr8:42183588 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000144958] Chr8:42316223 [GRCh38]
Chr8:42173741 [GRCh37]
Chr8:8p11.21		 pathogenic|not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1 copy number loss See cases [RCV000141648] Chr8:42236286..42758909 [GRCh38]
Chr8:42093804..42614052 [GRCh37]
Chr8:42212961..42733209 [NCBI36]
Chr8:8p11.21		 likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3 copy number gain See cases [RCV000142663] Chr8:39960531..43673207 [GRCh38]
Chr8:39818050..43528350 [GRCh37]
Chr8:39937207..43647507 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001556.3(IKBKB):c.1083G>A (p.Leu361=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000554916] Chr8:42316862 [GRCh38]
Chr8:42174380 [GRCh37]
Chr8:8p11.21		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3 copy number gain See cases [RCV000446823] Chr8:40690198..43388233 [GRCh37]
Chr8:8p11.21-11.1		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001556.3(IKBKB):c.1119C>T (p.Asp373=) single nucleotide variant IKBKB-related condition [RCV003935521]|Severe combined immunodeficiency due to IKK2 deficiency [RCV000531083]|not provided [RCV003431108] Chr8:42316898 [GRCh38]
Chr8:42174416 [GRCh37]
Chr8:8p11.21		 benign|likely benign
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_001556.3(IKBKB):c.1240+14A>T single nucleotide variant Immunodeficiency 15a [RCV001729597]|Severe combined immunodeficiency due to IKK2 deficiency [RCV001511648]|not provided [RCV001653797]|not specified [RCV000454393] Chr8:42317785 [GRCh38]
Chr8:42175303 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.512A>G (p.Lys171Arg) single nucleotide variant not provided [RCV000483123] Chr8:42306377 [GRCh38]
Chr8:42163895 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001556.3(IKBKB):c.1062G>T (p.Leu354=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000542317] Chr8:42316841 [GRCh38]
Chr8:42174359 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1390T>C (p.Cys464Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651947] Chr8:42319295 [GRCh38]
Chr8:42176813 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.2228A>T (p.Gln743Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651948] Chr8:42330936 [GRCh38]
Chr8:42188454 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.509C>T (p.Ala170Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651949] Chr8:42306374 [GRCh38]
Chr8:42163892 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1669G>A (p.Gly557Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651950] Chr8:42320825 [GRCh38]
Chr8:42178343 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.1504G>A (p.Glu502Lys) single nucleotide variant IKBKB-related condition [RCV003937976]|Severe combined immunodeficiency due to IKK2 deficiency [RCV000651951] Chr8:42319409 [GRCh38]
Chr8:42176927 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.388+9C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651952] Chr8:42293521 [GRCh38]
Chr8:42151039 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.732T>C (p.Val244=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651953] Chr8:42314361 [GRCh38]
Chr8:42171879 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.738C>T (p.Ser246=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651954]|not provided [RCV003424247] Chr8:42314367 [GRCh38]
Chr8:42171885 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1606C>T (p.Arg536Trp) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651955] Chr8:42320762 [GRCh38]
Chr8:42178280 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1126-4G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000651956] Chr8:42317653 [GRCh38]
Chr8:42175171 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1577G>A (p.Arg526Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000556246] Chr8:42319645 [GRCh38]
Chr8:42177163 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1338G>A (p.Arg446=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001460399] Chr8:42318649 [GRCh38]
Chr8:42176167 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_001556.3(IKBKB):c.941T>C (p.Ile314Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000700599] Chr8:42316720 [GRCh38]
Chr8:42174238 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.607G>A (p.Val203Ile) single nucleotide variant Immunodeficiency 15a [RCV000722132]|Severe combined immunodeficiency due to IKK2 deficiency [RCV003744629] Chr8:42308940 [GRCh38]
Chr8:42166458 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu) single nucleotide variant Inborn genetic diseases [RCV002533670]|Severe combined immunodeficiency due to IKK2 deficiency [RCV000702887] Chr8:42306387 [GRCh38]
Chr8:42163905 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1336C>T (p.Arg446Trp) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000699761] Chr8:42318647 [GRCh38]
Chr8:42176165 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.938A>G (p.His313Arg) single nucleotide variant Inborn genetic diseases [RCV003352984]|Severe combined immunodeficiency due to IKK2 deficiency [RCV000688292] Chr8:42316717 [GRCh38]
Chr8:42174235 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1813G>T (p.Val605Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000703132] Chr8:42322128 [GRCh38]
Chr8:42179646 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.402A>G (p.Arg134=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000691556] Chr8:42305200 [GRCh38]
Chr8:42162718 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p11.21(chr8:42187154-42193599)x0 copy number loss not provided [RCV000747518] Chr8:42187154..42193599 [GRCh37]
Chr8:8p11.21		 benign
GRCh37/hg19 8p11.21(chr8:42188432-42192467)x1 copy number loss not provided [RCV000747519] Chr8:42188432..42192467 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.-64C>T single nucleotide variant not provided [RCV001648613]|not specified [RCV003487596] Chr8:42271424 [GRCh38]
Chr8:42128942 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.878C>T (p.Thr293Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001043824] Chr8:42316287 [GRCh38]
Chr8:42173805 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2212G>A (p.Asp738Asn) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000973696] Chr8:42330920 [GRCh38]
Chr8:42188438 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2204C>T (p.Thr735Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002545964] Chr8:42329213 [GRCh38]
Chr8:42186731 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.319-10T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000884223] Chr8:42293433 [GRCh38]
Chr8:42150951 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1739-9T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000902607] Chr8:42322045 [GRCh38]
Chr8:42179563 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1585G>A (p.Glu529Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000924974] Chr8:42320741 [GRCh38]
Chr8:42178259 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1167C>T (p.Leu389=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583190] Chr8:42317698 [GRCh38]
Chr8:42175216 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.756G>A (p.Thr252=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001468410] Chr8:42314385 [GRCh38]
Chr8:42171903 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2232G>A (p.Thr744=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001463977] Chr8:42330940 [GRCh38]
Chr8:42188458 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln) single nucleotide variant Aganglionic megacolon [RCV000984703] Chr8:42316224 [GRCh38]
Chr8:42173742 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.247A>G (p.Met83Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001476946] Chr8:42290202 [GRCh38]
Chr8:42147720 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001062210] Chr8:42316899 [GRCh38]
Chr8:42174417 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2000G>C (p.Gly667Ala) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001053640] Chr8:42325983 [GRCh38]
Chr8:42183501 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.752G>C (p.Gly251Ala) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001056813] Chr8:42314381 [GRCh38]
Chr8:42171899 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1097C>T (p.Pro366Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001068598] Chr8:42316876 [GRCh38]
Chr8:42174394 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.820G>A (p.Glu274Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001060357] Chr8:42316229 [GRCh38]
Chr8:42173747 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.819G>A (p.Leu273=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000981106] Chr8:42316228 [GRCh38]
Chr8:42173746 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.564C>T (p.Tyr188=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001446200] Chr8:42306429 [GRCh38]
Chr8:42163947 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1677G>T (p.Thr559=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000967706]|not provided [RCV001702869] Chr8:42320833 [GRCh38]
Chr8:42178351 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_001556.3(IKBKB):c.480A>G (p.Leu160=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000897556] Chr8:42306345 [GRCh38]
Chr8:42163863 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1389C>T (p.Ser463=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000915320] Chr8:42319294 [GRCh38]
Chr8:42176812 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1584C>T (p.Asn528=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001479155] Chr8:42320740 [GRCh38]
Chr8:42178258 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1929T>C (p.Val643=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001440789] Chr8:42322437 [GRCh38]
Chr8:42179955 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001556.3(IKBKB):c.2235AGA[2] (p.Glu748del) microsatellite Severe combined immunodeficiency due to IKK2 deficiency [RCV000814955] Chr8:42330941..42330943 [GRCh38]
Chr8:42188459..42188461 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000791666]|not provided [RCV001759487] Chr8:42320832 [GRCh38]
Chr8:42178350 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1552G>A (p.Glu518Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000824209] Chr8:42319620 [GRCh38]
Chr8:42177138 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.800+3A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000819883] Chr8:42314432 [GRCh38]
Chr8:42171950 [GRCh37]
Chr8:8p11.21		 uncertain significance
NC_000008.10:g.(?_42128869)_(43054732_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV000803272] Chr8:42128869..43054732 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000800778]|not provided [RCV001814238] Chr8:42329128 [GRCh38]
Chr8:42186646 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.396G>A (p.Ala132=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000914748] Chr8:42305194 [GRCh38]
Chr8:42162712 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1106A>G (p.Gln369Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000809770] Chr8:42316885 [GRCh38]
Chr8:42174403 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2078C>T (p.Thr693Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000813749] Chr8:42326061 [GRCh38]
Chr8:42183579 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.700A>G (p.Lys234Glu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000814748] Chr8:42314329 [GRCh38]
Chr8:42171847 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1466G>T (p.Ser489Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000988056] Chr8:42319371 [GRCh38]
Chr8:42176889 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1519T>C (p.Ser507Pro) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000810381] Chr8:42319587 [GRCh38]
Chr8:42177105 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1238T>A (p.Ile413Asn) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000824434] Chr8:42317769 [GRCh38]
Chr8:42175287 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.353G>A (p.Arg118Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000805394] Chr8:42293477 [GRCh38]
Chr8:42150995 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.318+6G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000794496]|not specified [RCV003987707] Chr8:42290279 [GRCh38]
Chr8:42147797 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000785097] Chr8:42322441 [GRCh38]
Chr8:42179959 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_001556.3(IKBKB):c.1190A>G (p.Tyr397Cys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000816869]|not provided [RCV003886443] Chr8:42317721 [GRCh38]
Chr8:42175239 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.2079G>A (p.Thr693=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000795297] Chr8:42326062 [GRCh38]
Chr8:42183580 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000820871] Chr8:42290185 [GRCh38]
Chr8:42147703 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1337G>A (p.Arg446Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000804515] Chr8:42318648 [GRCh38]
Chr8:42176166 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1446G>A (p.Lys482=) single nucleotide variant IKBKB-related condition [RCV003895600]|Severe combined immunodeficiency due to IKK2 deficiency [RCV000920688] Chr8:42319351 [GRCh38]
Chr8:42176869 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
GRCh37/hg19 8p11.21(chr8:42143121-42353003)x3 copy number gain not provided [RCV001006100] Chr8:42143121..42353003 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.902A>G (p.Lys301Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001212462] Chr8:42316311 [GRCh38]
Chr8:42173829 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.730G>A (p.Val244Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001234111] Chr8:42314359 [GRCh38]
Chr8:42171877 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001230860]|not provided [RCV001565442] Chr8:42316265 [GRCh38]
Chr8:42173783 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.461A>G (p.Gln154Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001220033] Chr8:42305259 [GRCh38]
Chr8:42162777 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.916A>G (p.Ile306Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001239260] Chr8:42316325 [GRCh38]
Chr8:42173843 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2224_2232dup (p.Leu742_Thr744dup) duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV001227254] Chr8:42330930..42330931 [GRCh38]
Chr8:42188448..42188449 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.266A>G (p.Asn89Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001225912] Chr8:42290221 [GRCh38]
Chr8:42147739 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1494C>T (p.Ser498=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001221840] Chr8:42319399 [GRCh38]
Chr8:42176917 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1		 uncertain significance
NM_001556.3(IKBKB):c.940A>G (p.Ile314Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001211013] Chr8:42316719 [GRCh38]
Chr8:42174237 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1235G>C (p.Cys412Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001201608] Chr8:42317766 [GRCh38]
Chr8:42175284 [GRCh37]
Chr8:8p11.21		 uncertain significance
NC_000008.10:g.(?_41518984)_(42698237_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV003107431] Chr8:41518984..42698237 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.471A>G (p.Glu157=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003107756] Chr8:42305269 [GRCh38]
Chr8:42162787 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2115-63T>C single nucleotide variant not provided [RCV001619502]|not specified [RCV003399434] Chr8:42329061 [GRCh38]
Chr8:42186579 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.801-287del deletion not provided [RCV001656170] Chr8:42315920 [GRCh38]
Chr8:42173438 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.-18-4A>G single nucleotide variant not provided [RCV001702274] Chr8:42272079 [GRCh38]
Chr8:42129597 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.800+70C>G single nucleotide variant not provided [RCV001644408]|not specified [RCV003394184] Chr8:42314499 [GRCh38]
Chr8:42172017 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.879G>A (p.Thr293=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000891978] Chr8:42316288 [GRCh38]
Chr8:42173806 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1467C>T (p.Ser489=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000905096] Chr8:42319372 [GRCh38]
Chr8:42176890 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1866G>A (p.Ala622=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000909989] Chr8:42322374 [GRCh38]
Chr8:42179892 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.600A>G (p.Thr200=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583187] Chr8:42308933 [GRCh38]
Chr8:42166451 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2263G>T (p.Ala755Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000923229] Chr8:42330971 [GRCh38]
Chr8:42188489 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.606C>T (p.Thr202=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001434508] Chr8:42308939 [GRCh38]
Chr8:42166457 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2028G>A (p.Met676Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000959026]|not provided [RCV001796334]|not specified [RCV001796827] Chr8:42326011 [GRCh38]
Chr8:42183529 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_001556.3(IKBKB):c.2128G>A (p.Ala710Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001514175] Chr8:42329137 [GRCh38]
Chr8:42186655 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.609C>T (p.Val203=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002550538] Chr8:42308942 [GRCh38]
Chr8:42166460 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2036C>T (p.Ser679Phe) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001242622] Chr8:42326019 [GRCh38]
Chr8:42183537 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1360G>A (p.Ala454Thr) single nucleotide variant Inborn genetic diseases [RCV003363150]|Severe combined immunodeficiency due to IKK2 deficiency [RCV001202555] Chr8:42318671 [GRCh38]
Chr8:42176189 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1517-3C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001237505] Chr8:42319582 [GRCh38]
Chr8:42177100 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2166C>T (p.Ala722=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV000911792] Chr8:42329175 [GRCh38]
Chr8:42186693 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1623G>A (p.Gln541=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002544479] Chr8:42320779 [GRCh38]
Chr8:42178297 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1600G>A (p.Val534Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003106670] Chr8:42320756 [GRCh38]
Chr8:42178274 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2114+319C>A single nucleotide variant not provided [RCV001655137] Chr8:42326416 [GRCh38]
Chr8:42183934 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.568-326C>G single nucleotide variant not provided [RCV001677966] Chr8:42308575 [GRCh38]
Chr8:42166093 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.-18-96A>T single nucleotide variant not provided [RCV001676109]|not specified [RCV003487667] Chr8:42271987 [GRCh38]
Chr8:42129505 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1579-152C>T single nucleotide variant not provided [RCV001657324] Chr8:42320583 [GRCh38]
Chr8:42178101 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.106-231del deletion not provided [RCV001725351] Chr8:42288391 [GRCh38]
Chr8:42145909 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.*53A>G single nucleotide variant not provided [RCV001693044]|not specified [RCV003394210] Chr8:42331032 [GRCh38]
Chr8:42188550 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.106-3T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001233254] Chr8:42288631 [GRCh38]
Chr8:42146149 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.881A>G (p.Tyr294Cys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001205248] Chr8:42316290 [GRCh38]
Chr8:42173808 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.674A>G (p.Asn225Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001230894] Chr8:42309007 [GRCh38]
Chr8:42166525 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.650C>T (p.Thr217Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001232663] Chr8:42308983 [GRCh38]
Chr8:42166501 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1819G>A (p.Val607Met) single nucleotide variant Inborn genetic diseases [RCV002551480]|Severe combined immunodeficiency due to IKK2 deficiency [RCV001040825] Chr8:42322134 [GRCh38]
Chr8:42179652 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1798A>G (p.Ser600Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001210893] Chr8:42322113 [GRCh38]
Chr8:42179631 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2114+3A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001069576]|not specified [RCV003155352] Chr8:42326100 [GRCh38]
Chr8:42183618 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.757G>C (p.Val253Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001062913] Chr8:42314386 [GRCh38]
Chr8:42171904 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2204C>A (p.Thr735Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001056897] Chr8:42329213 [GRCh38]
Chr8:42186731 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1986T>C (p.Cys662=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001039555] Chr8:42322494 [GRCh38]
Chr8:42180012 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.801-281_801-280insC insertion not provided [RCV001663260] Chr8:42315929..42315930 [GRCh38]
Chr8:42173447..42173448 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.2115-151G>A single nucleotide variant not provided [RCV001539899] Chr8:42328973 [GRCh38]
Chr8:42186491 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.2169A>G (p.Ile723Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001337994] Chr8:42329178 [GRCh38]
Chr8:42186696 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.840G>T (p.Met280Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001320641] Chr8:42316249 [GRCh38]
Chr8:42173767 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_001556.3(IKBKB):c.215A>G (p.Asn72Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001321633] Chr8:42290170 [GRCh38]
Chr8:42147688 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001334931] Chr8:42316296 [GRCh38]
Chr8:42173814 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001556.3(IKBKB):c.1803C>T (p.Phe601=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001396665] Chr8:42322118 [GRCh38]
Chr8:42179636 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.385A>G (p.Ile129Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001314826] Chr8:42293509 [GRCh38]
Chr8:42151027 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.200+19G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001433677] Chr8:42288747 [GRCh38]
Chr8:42146265 [GRCh37]
Chr8:8p11.21		 likely benign
NC_000008.10:g.(?_41905876)_(42188497_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV001370515] Chr8:41905876..42188497 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.90C>G (p.Ile30Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001301667] Chr8:42272190 [GRCh38]
Chr8:42129708 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.200+16A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001321963] Chr8:42288744 [GRCh38]
Chr8:42146262 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.1654A>G (p.Met552Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001365212] Chr8:42320810 [GRCh38]
Chr8:42178328 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1675A>T (p.Thr559Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001323123] Chr8:42320831 [GRCh38]
Chr8:42178349 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.313C>T (p.Arg105Trp) single nucleotide variant Immunodeficiency 15a [RCV001328854] Chr8:42290268 [GRCh38]
Chr8:42147786 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1084A>G (p.Ile362Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001307171] Chr8:42316863 [GRCh38]
Chr8:42174381 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1658G>C (p.Gly553Ala) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001309176] Chr8:42320814 [GRCh38]
Chr8:42178332 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.950T>C (p.Met317Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001345529] Chr8:42316729 [GRCh38]
Chr8:42174247 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1240+10T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001412400] Chr8:42317781 [GRCh38]
Chr8:42175299 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1829C>T (p.Thr610Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001307393] Chr8:42322144 [GRCh38]
Chr8:42179662 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1679T>C (p.Leu560Pro) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001308280] Chr8:42320835 [GRCh38]
Chr8:42178353 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.693-6T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001492774] Chr8:42314316 [GRCh38]
Chr8:42171834 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2115-8T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001454990]|not specified [RCV002469396] Chr8:42329116 [GRCh38]
Chr8:42186634 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.106-4G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001471786] Chr8:42288630 [GRCh38]
Chr8:42146148 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.349C>T (p.Leu117=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001418587] Chr8:42293473 [GRCh38]
Chr8:42150991 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1618C>T (p.Leu540=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001498152] Chr8:42320774 [GRCh38]
Chr8:42178292 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.546C>T (p.Phe182=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001474679] Chr8:42306411 [GRCh38]
Chr8:42163929 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2178T>C (p.Thr726=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001427124] Chr8:42329187 [GRCh38]
Chr8:42186705 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.200+8C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001463803] Chr8:42288736 [GRCh38]
Chr8:42146254 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1902C>T (p.Ser634=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001448886] Chr8:42322410 [GRCh38]
Chr8:42179928 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.261G>A (p.Ala87=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001405083] Chr8:42290216 [GRCh38]
Chr8:42147734 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1011G>A (p.Lys337=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001439733] Chr8:42316790 [GRCh38]
Chr8:42174308 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.735T>C (p.Val245=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001444274] Chr8:42314364 [GRCh38]
Chr8:42171882 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2202C>G (p.Phe734Leu) single nucleotide variant Inborn genetic diseases [RCV003298751]|Severe combined immunodeficiency due to IKK2 deficiency [RCV001435911] Chr8:42329211 [GRCh38]
Chr8:42186729 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.624C>T (p.Phe208=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001449394] Chr8:42308957 [GRCh38]
Chr8:42166475 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.393T>C (p.Ser131=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001441812] Chr8:42305191 [GRCh38]
Chr8:42162709 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.651G>A (p.Thr217=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001409366] Chr8:42308984 [GRCh38]
Chr8:42166502 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.318+258G>A single nucleotide variant not provided [RCV001611088] Chr8:42290531 [GRCh38]
Chr8:42148049 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1626C>T (p.Thr542=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001476505] Chr8:42320782 [GRCh38]
Chr8:42178300 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.318+103G>A single nucleotide variant not provided [RCV001715194] Chr8:42290376 [GRCh38]
Chr8:42147894 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1241-269G>A single nucleotide variant not provided [RCV001673781] Chr8:42318283 [GRCh38]
Chr8:42175801 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.478-192G>A single nucleotide variant not provided [RCV001672345] Chr8:42306151 [GRCh38]
Chr8:42163669 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1579-122G>C single nucleotide variant not provided [RCV001687949] Chr8:42320613 [GRCh38]
Chr8:42178131 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.931-7G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001514045] Chr8:42316703 [GRCh38]
Chr8:42174221 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.568-19C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001454182] Chr8:42308882 [GRCh38]
Chr8:42166400 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1071G>A (p.Ala357=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001506478] Chr8:42316850 [GRCh38]
Chr8:42174368 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1320G>A (p.Leu440=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001458656] Chr8:42318631 [GRCh38]
Chr8:42176149 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.388+20T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001519096] Chr8:42293532 [GRCh38]
Chr8:42151050 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.111A>G (p.Thr37=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001500575] Chr8:42288639 [GRCh38]
Chr8:42146157 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.106-15G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001402256] Chr8:42288619 [GRCh38]
Chr8:42146137 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2082C>T (p.Ala694=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001462318] Chr8:42326065 [GRCh38]
Chr8:42183583 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.987G>A (p.Glu329=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001725921] Chr8:42316766 [GRCh38]
Chr8:42174284 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001556.3(IKBKB):c.2205+2T>C single nucleotide variant Severe combined immunodeficiency disease [RCV002238602] Chr8:42329216 [GRCh38]
Chr8:42186734 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_001556.3(IKBKB):c.1223A>C (p.Glu408Ala) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003096158]|not provided [RCV002273442] Chr8:42317754 [GRCh38]
Chr8:42175272 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.389-14C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002184937] Chr8:42305173 [GRCh38]
Chr8:42162691 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2206-19C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001929394] Chr8:42330895 [GRCh38]
Chr8:42188413 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1603G>C (p.Glu535Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001987980] Chr8:42320759 [GRCh38]
Chr8:42178277 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.25del (p.Thr9fs) deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV002002543] Chr8:42272124 [GRCh38]
Chr8:42129642 [GRCh37]
Chr8:8p11.21		 pathogenic
GRCh37/hg19 8p11.21-q11.21(chr8:42162574-48757095) copy number gain not specified [RCV002053760] Chr8:42162574..48757095 [GRCh37]
Chr8:8p11.21-q11.21		 uncertain significance
NM_001556.3(IKBKB):c.1364+5C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001908344] Chr8:42318680 [GRCh38]
Chr8:42176198 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.32C>T (p.Thr11Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001967241] Chr8:42272132 [GRCh38]
Chr8:42129650 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1451A>G (p.Asp484Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001892256] Chr8:42319356 [GRCh38]
Chr8:42176874 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.613T>C (p.Tyr205His) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001913446] Chr8:42308946 [GRCh38]
Chr8:42166464 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1927_1928del (p.Val643fs) deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV001908431] Chr8:42322434..42322435 [GRCh38]
Chr8:42179952..42179953 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.931-12G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001968500] Chr8:42316698 [GRCh38]
Chr8:42174216 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1996C>T (p.Arg666Cys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001969666] Chr8:42325979 [GRCh38]
Chr8:42183497 [GRCh37]
Chr8:8p11.21		 uncertain significance
NC_000008.10:g.(?_42129619)_(42188497_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV001941172] Chr8:42129619..42188497 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1816C>G (p.Arg606Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001878879] Chr8:42322131 [GRCh38]
Chr8:42179649 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1987-17_1987-16del deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV001961657] Chr8:42325951..42325952 [GRCh38]
Chr8:42183469..42183470 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1637A>G (p.Asp546Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002000972] Chr8:42320793 [GRCh38]
Chr8:42178311 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.788A>G (p.Asn263Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001887478]|not provided [RCV003223736] Chr8:42314417 [GRCh38]
Chr8:42171935 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1817G>A (p.Arg606Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001923691] Chr8:42322132 [GRCh38]
Chr8:42179650 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1607G>A (p.Arg536Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001942553] Chr8:42320763 [GRCh38]
Chr8:42178281 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1468A>G (p.Ile490Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001931019] Chr8:42319373 [GRCh38]
Chr8:42176891 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1673G>T (p.Gly558Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001880406] Chr8:42320829 [GRCh38]
Chr8:42178347 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1124A>C (p.Lys375Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001977401] Chr8:42316903 [GRCh38]
Chr8:42174421 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1661G>A (p.Arg554Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001931293] Chr8:42320817 [GRCh38]
Chr8:42178335 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.14C>T (p.Pro5Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002047082] Chr8:42272114 [GRCh38]
Chr8:42129632 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.314G>A (p.Arg105Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002032159] Chr8:42290269 [GRCh38]
Chr8:42147787 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1117G>C (p.Asp373His) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001919373] Chr8:42316896 [GRCh38]
Chr8:42174414 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1826A>G (p.Tyr609Cys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001876545] Chr8:42322141 [GRCh38]
Chr8:42179659 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2156T>C (p.Leu719Pro) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002026017] Chr8:42329165 [GRCh38]
Chr8:42186683 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1731dup (p.Pro578fs) duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV001993177] Chr8:42321933..42321934 [GRCh38]
Chr8:42179451..42179452 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.1934G>A (p.Arg645Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001880735] Chr8:42322442 [GRCh38]
Chr8:42179960 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1705G>T (p.Glu569Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001952743] Chr8:42321912 [GRCh38]
Chr8:42179430 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.869C>T (p.Thr290Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002012846] Chr8:42316278 [GRCh38]
Chr8:42173796 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.801-5C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001974157] Chr8:42316205 [GRCh38]
Chr8:42173723 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.971C>T (p.Thr324Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001997708] Chr8:42316750 [GRCh38]
Chr8:42174268 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.163C>T (p.Arg55Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001903991] Chr8:42288691 [GRCh38]
Chr8:42146209 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.577C>G (p.Leu193Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001885949] Chr8:42308910 [GRCh38]
Chr8:42166428 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2104G>A (p.Ala702Thr) single nucleotide variant Inborn genetic diseases [RCV002545460]|Severe combined immunodeficiency due to IKK2 deficiency [RCV002035832] Chr8:42326087 [GRCh38]
Chr8:42183605 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.693-14A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002050267] Chr8:42314308 [GRCh38]
Chr8:42171826 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.1424T>C (p.Met475Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002051524] Chr8:42319329 [GRCh38]
Chr8:42176847 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1884G>C (p.Lys628Asn) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001922313] Chr8:42322392 [GRCh38]
Chr8:42179910 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2083T>A (p.Ser695Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001903404] Chr8:42326066 [GRCh38]
Chr8:42183584 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.675C>G (p.Asn225Lys) single nucleotide variant Inborn genetic diseases [RCV002551627]|Severe combined immunodeficiency due to IKK2 deficiency [RCV001877087] Chr8:42309008 [GRCh38]
Chr8:42166526 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1073G>A (p.Gly358Asp) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001938026] Chr8:42316852 [GRCh38]
Chr8:42174370 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.317A>G (p.Lys106Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002019457] Chr8:42290272 [GRCh38]
Chr8:42147790 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.341G>A (p.Cys114Tyr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001988893] Chr8:42293465 [GRCh38]
Chr8:42150983 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.742G>C (p.Asp248His) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002051432] Chr8:42314371 [GRCh38]
Chr8:42171889 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1121G>C (p.Gly374Ala) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV001881701] Chr8:42316900 [GRCh38]
Chr8:42174418 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.200+14G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002144780] Chr8:42288742 [GRCh38]
Chr8:42146260 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.200+14G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002190807] Chr8:42288742 [GRCh38]
Chr8:42146260 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1031C>T (p.Thr344Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002073481] Chr8:42316810 [GRCh38]
Chr8:42174328 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.606C>G (p.Thr202=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002168348] Chr8:42308939 [GRCh38]
Chr8:42166457 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1838+17_1838+38dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV002147566] Chr8:42322169..42322170 [GRCh38]
Chr8:42179687..42179688 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1579-16A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002166022] Chr8:42320719 [GRCh38]
Chr8:42178237 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1578+10T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002149245] Chr8:42319656 [GRCh38]
Chr8:42177174 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.567+19del deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV002088685] Chr8:42306450 [GRCh38]
Chr8:42163968 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.692+13G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002192511] Chr8:42309038 [GRCh38]
Chr8:42166556 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.246G>A (p.Gly82=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002185485] Chr8:42290201 [GRCh38]
Chr8:42147719 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1688+11G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002086929] Chr8:42320855 [GRCh38]
Chr8:42178373 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1739-4C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002090113] Chr8:42322050 [GRCh38]
Chr8:42179568 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.276C>T (p.Pro92=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002097514] Chr8:42290231 [GRCh38]
Chr8:42147749 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.999G>T (p.Leu333=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002188046] Chr8:42316778 [GRCh38]
Chr8:42174296 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1579-20T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002209546] Chr8:42320715 [GRCh38]
Chr8:42178233 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.201-17G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002172498] Chr8:42290139 [GRCh38]
Chr8:42147657 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1240+20del deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV002132396] Chr8:42317788 [GRCh38]
Chr8:42175306 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.568-8T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002150378] Chr8:42308893 [GRCh38]
Chr8:42166411 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.432G>A (p.Arg144=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002195469] Chr8:42305230 [GRCh38]
Chr8:42162748 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.931-13G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002151067] Chr8:42316697 [GRCh38]
Chr8:42174215 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1364+23dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV002115882] Chr8:42318689..42318690 [GRCh38]
Chr8:42176207..42176208 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1824C>T (p.Ile608=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002080683] Chr8:42322139 [GRCh38]
Chr8:42179657 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.870G>A (p.Thr290=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002076195] Chr8:42316279 [GRCh38]
Chr8:42173797 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.200+13C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002096074] Chr8:42288741 [GRCh38]
Chr8:42146259 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1240+14_1240+18del deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV002077722] Chr8:42317781..42317785 [GRCh38]
Chr8:42175299..42175303 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1986+18T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002186556] Chr8:42322512 [GRCh38]
Chr8:42180030 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1125+14T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002152466] Chr8:42316918 [GRCh38]
Chr8:42174436 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1365-15T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002152493] Chr8:42319255 [GRCh38]
Chr8:42176773 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.165A>G (p.Arg55=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002081184] Chr8:42288693 [GRCh38]
Chr8:42146211 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.200+12G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002155357] Chr8:42288740 [GRCh38]
Chr8:42146258 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.567+18C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002137509] Chr8:42306450 [GRCh38]
Chr8:42163968 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2023A>G (p.Ser675Gly) single nucleotide variant not specified [RCV002249011] Chr8:42326006 [GRCh38]
Chr8:42183524 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.801-19A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002084165] Chr8:42316191 [GRCh38]
Chr8:42173709 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1987-16T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002200890] Chr8:42325954 [GRCh38]
Chr8:42183472 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1707G>C (p.Glu569Asp) single nucleotide variant See cases [RCV002252433] Chr8:42321914 [GRCh38]
Chr8:42179432 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1241-5T>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002157846] Chr8:42318547 [GRCh38]
Chr8:42176065 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2206G>A (p.Ala736Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002159805] Chr8:42330914 [GRCh38]
Chr8:42188432 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.318+13C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002159374] Chr8:42290286 [GRCh38]
Chr8:42147804 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1838+12G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002123048] Chr8:42322165 [GRCh38]
Chr8:42179683 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1839-20G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002123404] Chr8:42322327 [GRCh38]
Chr8:42179845 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.388+15C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002119042] Chr8:42293527 [GRCh38]
Chr8:42151045 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1089C>T (p.Pro363=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002201042] Chr8:42316868 [GRCh38]
Chr8:42174386 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2041C>T (p.Leu681Phe) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003110624] Chr8:42326024 [GRCh38]
Chr8:42183542 [GRCh37]
Chr8:8p11.21		 uncertain significance
NC_000008.10:g.(?_41518984)_(43054712_?)dup duplication Torsion dystonia 6 [RCV003116544]|not provided [RCV003109566] Chr8:41518984..43054712 [GRCh37]
Chr8:8p11.21		 uncertain significance|no classifications from unflagged records
NM_001556.3(IKBKB):c.1365-14T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003110734] Chr8:42319256 [GRCh38]
Chr8:42176774 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.956C>T (p.Thr319Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003116232] Chr8:42316735 [GRCh38]
Chr8:42174253 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1669G>C (p.Gly557Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003118526] Chr8:42320825 [GRCh38]
Chr8:42178343 [GRCh37]
Chr8:8p11.21		 uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001556.3(IKBKB):c.1465A>G (p.Ser489Gly) single nucleotide variant Immunodeficiency 15a [RCV002463983] Chr8:42319370 [GRCh38]
Chr8:42176888 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.547G>A (p.Val183Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002299639] Chr8:42306412 [GRCh38]
Chr8:42163930 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1761T>G (p.Ser587Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002299977] Chr8:42322076 [GRCh38]
Chr8:42179594 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.467G>C (p.Gly156Ala) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002296142] Chr8:42305265 [GRCh38]
Chr8:42162783 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.389-20C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002615839] Chr8:42305167 [GRCh38]
Chr8:42162685 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1130A>G (p.Asn377Ser) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003095379] Chr8:42317661 [GRCh38]
Chr8:42175179 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1706A>G (p.Glu569Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002837863] Chr8:42321913 [GRCh38]
Chr8:42179431 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1090G>A (p.Asp364Asn) single nucleotide variant Inborn genetic diseases [RCV002903521]|Severe combined immunodeficiency due to IKK2 deficiency [RCV002903522] Chr8:42316869 [GRCh38]
Chr8:42174387 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1365-16C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002842186] Chr8:42319254 [GRCh38]
Chr8:42176772 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2190A>C (p.Gln730His) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002842187] Chr8:42329199 [GRCh38]
Chr8:42186717 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.501A>G (p.Leu167=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002775961] Chr8:42306366 [GRCh38]
Chr8:42163884 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.200+13C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002970836] Chr8:42288741 [GRCh38]
Chr8:42146259 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1812A>G (p.Lys604=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003073602] Chr8:42322127 [GRCh38]
Chr8:42179645 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.368T>C (p.Leu123Pro) single nucleotide variant Immunodeficiency 15a [RCV002463413]|Severe combined immunodeficiency due to IKK2 deficiency [RCV003103152] Chr8:42293492 [GRCh38]
Chr8:42151010 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.38G>A (p.Gly13Glu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003095723] Chr8:42272138 [GRCh38]
Chr8:42129656 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1244A>G (p.Gln415Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003033862] Chr8:42318555 [GRCh38]
Chr8:42176073 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2074T>A (p.Ser692Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003034094] Chr8:42326057 [GRCh38]
Chr8:42183575 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1762C>T (p.Gln588Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003016445] Chr8:42322077 [GRCh38]
Chr8:42179595 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.1098T>G (p.Pro366=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002750211] Chr8:42316877 [GRCh38]
Chr8:42174395 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.693-16A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002991586] Chr8:42314306 [GRCh38]
Chr8:42171824 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.8G>T (p.Trp3Leu) single nucleotide variant Inborn genetic diseases [RCV002906067] Chr8:42272108 [GRCh38]
Chr8:42129626 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.201-18C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002613934] Chr8:42290138 [GRCh38]
Chr8:42147656 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.854C>G (p.Pro285Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003021229] Chr8:42316263 [GRCh38]
Chr8:42173781 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1364+19T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002638445] Chr8:42318694 [GRCh38]
Chr8:42176212 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1948C>T (p.Arg650Trp) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003018981] Chr8:42322456 [GRCh38]
Chr8:42179974 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1136G>T (p.Gly379Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002953844] Chr8:42317667 [GRCh38]
Chr8:42175185 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.684C>A (p.Pro228=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003021835] Chr8:42309017 [GRCh38]
Chr8:42166535 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1357G>A (p.Ala453Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002912517] Chr8:42318668 [GRCh38]
Chr8:42176186 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.319-6T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002866434] Chr8:42293437 [GRCh38]
Chr8:42150955 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1673del (p.Gly558fs) deletion Severe combined immunodeficiency disease [RCV002510318] Chr8:42320824 [GRCh38]
Chr8:42178342 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_001556.3(IKBKB):c.319-20G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002886270] Chr8:42293423 [GRCh38]
Chr8:42150941 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1675A>G (p.Thr559Ala) single nucleotide variant Inborn genetic diseases [RCV002913627]|Severe combined immunodeficiency due to IKK2 deficiency [RCV002886615] Chr8:42320831 [GRCh38]
Chr8:42178349 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1868T>C (p.Leu623Pro) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003038191] Chr8:42322376 [GRCh38]
Chr8:42179894 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2206-17T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003078076] Chr8:42330897 [GRCh38]
Chr8:42188415 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1472A>G (p.Gln491Arg) single nucleotide variant Inborn genetic diseases [RCV002692038] Chr8:42319377 [GRCh38]
Chr8:42176895 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1848G>A (p.Val616=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002796431] Chr8:42322356 [GRCh38]
Chr8:42179874 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1688+5G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003054378] Chr8:42320849 [GRCh38]
Chr8:42178367 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1365-6C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002637284] Chr8:42319264 [GRCh38]
Chr8:42176782 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1838+11C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002781265] Chr8:42322164 [GRCh38]
Chr8:42179682 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1080G>A (p.Ala360=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002781078] Chr8:42316859 [GRCh38]
Chr8:42174377 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1609del (p.Arg536_Met537insTer) deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV002999163] Chr8:42320765 [GRCh38]
Chr8:42178283 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.1264G>A (p.Ala422Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002795409] Chr8:42318575 [GRCh38]
Chr8:42176093 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.105+8C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002662419] Chr8:42272213 [GRCh38]
Chr8:42129731 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.315G>A (p.Arg105=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002927001] Chr8:42290270 [GRCh38]
Chr8:42147788 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.554C>A (p.Thr185Asn) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003036707] Chr8:42306419 [GRCh38]
Chr8:42163937 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1359C>T (p.Ala453=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002979346] Chr8:42318670 [GRCh38]
Chr8:42176188 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1200G>C (p.Gln400His) single nucleotide variant IKBKB-related condition [RCV003418603]|Severe combined immunodeficiency due to IKK2 deficiency [RCV002760972] Chr8:42317731 [GRCh38]
Chr8:42175249 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1364+23del deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV003080022] Chr8:42318690 [GRCh38]
Chr8:42176208 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.477+7G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003053169] Chr8:42305282 [GRCh38]
Chr8:42162800 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1683C>T (p.Asp561=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003085728] Chr8:42320839 [GRCh38]
Chr8:42178357 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1749T>C (p.Thr583=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003058712] Chr8:42322064 [GRCh38]
Chr8:42179582 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1412C>G (p.Ser471Cys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002918117] Chr8:42319317 [GRCh38]
Chr8:42176835 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1832A>G (p.Gln611Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003039951] Chr8:42322147 [GRCh38]
Chr8:42179665 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2205+8C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003041876] Chr8:42329222 [GRCh38]
Chr8:42186740 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2260_2262dup (p.Gln754_Ala755insGln) duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV002801025] Chr8:42330965..42330966 [GRCh38]
Chr8:42188483..42188484 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.453C>T (p.Ile151=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002640689] Chr8:42305251 [GRCh38]
Chr8:42162769 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2019G>A (p.Pro673=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002623344] Chr8:42326002 [GRCh38]
Chr8:42183520 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1241-8G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002932583] Chr8:42318544 [GRCh38]
Chr8:42176062 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.366C>T (p.Ile122=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003024792] Chr8:42293490 [GRCh38]
Chr8:42151008 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1269C>T (p.Phe423=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003022872] Chr8:42318580 [GRCh38]
Chr8:42176098 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.201-20A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003084570] Chr8:42290136 [GRCh38]
Chr8:42147654 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1126-13T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003023029] Chr8:42317644 [GRCh38]
Chr8:42175162 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1255A>G (p.Arg419Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002666957] Chr8:42318566 [GRCh38]
Chr8:42176084 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1916A>G (p.Asp639Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002626894] Chr8:42322424 [GRCh38]
Chr8:42179942 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1392C>A (p.Cys464Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003048046] Chr8:42319297 [GRCh38]
Chr8:42176815 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.213C>G (p.Pro71=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002811422] Chr8:42290168 [GRCh38]
Chr8:42147686 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1866G>T (p.Ala622=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002602296] Chr8:42322374 [GRCh38]
Chr8:42179892 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1690G>A (p.Glu564Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002602170] Chr8:42321897 [GRCh38]
Chr8:42179415 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1240C>T (p.Leu414Phe) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002645871] Chr8:42317771 [GRCh38]
Chr8:42175289 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1495G>A (p.Glu499Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002966603] Chr8:42319400 [GRCh38]
Chr8:42176918 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.931-12G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002645987] Chr8:42316698 [GRCh38]
Chr8:42174216 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1126-8C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002898670] Chr8:42317649 [GRCh38]
Chr8:42175167 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1660C>T (p.Arg554Trp) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002579224] Chr8:42320816 [GRCh38]
Chr8:42178334 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.692+5G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003029016] Chr8:42309030 [GRCh38]
Chr8:42166548 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.855C>G (p.Pro285=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002629774] Chr8:42316264 [GRCh38]
Chr8:42173782 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1107G>A (p.Gln369=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002922859] Chr8:42316886 [GRCh38]
Chr8:42174404 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2231C>T (p.Thr744Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002962460] Chr8:42330939 [GRCh38]
Chr8:42188457 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1079C>T (p.Ala360Val) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002672087] Chr8:42316858 [GRCh38]
Chr8:42174376 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1317C>G (p.Thr439=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003027437] Chr8:42318628 [GRCh38]
Chr8:42176146 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.762G>A (p.Lys254=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003047649] Chr8:42314391 [GRCh38]
Chr8:42171909 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2180_2181del (p.Val727fs) microsatellite Severe combined immunodeficiency due to IKK2 deficiency [RCV002651264] Chr8:42329187..42329188 [GRCh38]
Chr8:42186705..42186706 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.957G>A (p.Thr319=) single nucleotide variant IKBKB-related condition [RCV003973635]|Severe combined immunodeficiency due to IKK2 deficiency [RCV003060165] Chr8:42316736 [GRCh38]
Chr8:42174254 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.1364+6G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002900276] Chr8:42318681 [GRCh38]
Chr8:42176199 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1173C>A (p.Asp391Glu) single nucleotide variant Immunodeficiency 15a [RCV003340629]|Severe combined immunodeficiency due to IKK2 deficiency [RCV003091746] Chr8:42317704 [GRCh38]
Chr8:42175222 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.147G>A (p.Glu49=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002988533] Chr8:42288675 [GRCh38]
Chr8:42146193 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1627G>A (p.Asp543Asn) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002680891] Chr8:42320783 [GRCh38]
Chr8:42178301 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.801-16A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003069339] Chr8:42316194 [GRCh38]
Chr8:42173712 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1736G>A (p.Arg579Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003052678] Chr8:42321943 [GRCh38]
Chr8:42179461 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1677G>A (p.Thr559=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003068777] Chr8:42320833 [GRCh38]
Chr8:42178351 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2185G>C (p.Glu729Gln) single nucleotide variant Inborn genetic diseases [RCV002679193] Chr8:42329194 [GRCh38]
Chr8:42186712 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.707G>A (p.Arg236Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002633787] Chr8:42314336 [GRCh38]
Chr8:42171854 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2188C>G (p.Gln730Glu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002584489] Chr8:42329197 [GRCh38]
Chr8:42186715 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.684C>T (p.Pro228=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002585682] Chr8:42309017 [GRCh38]
Chr8:42166535 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.672C>T (p.Pro224=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002608356] Chr8:42309005 [GRCh38]
Chr8:42166523 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.692+12C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002633610] Chr8:42309037 [GRCh38]
Chr8:42166555 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1439A>G (p.Lys480Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003070452] Chr8:42319344 [GRCh38]
Chr8:42176862 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2263G>A (p.Ala755Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003051370] Chr8:42330971 [GRCh38]
Chr8:42188489 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1192G>A (p.Glu398Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002611752] Chr8:42317723 [GRCh38]
Chr8:42175241 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.809C>G (p.Ala270Gly) single nucleotide variant Inborn genetic diseases [RCV002944390] Chr8:42316218 [GRCh38]
Chr8:42173736 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.692+7G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003093322] Chr8:42309032 [GRCh38]
Chr8:42166550 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1214C>T (p.Pro405Leu) single nucleotide variant Inborn genetic diseases [RCV002679025] Chr8:42317745 [GRCh38]
Chr8:42175263 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1701A>G (p.Ala567=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002612629] Chr8:42321908 [GRCh38]
Chr8:42179426 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.739G>A (p.Glu247Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV002612708] Chr8:42314368 [GRCh38]
Chr8:42171886 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2269T>C (p.Ter757Arg) single nucleotide variant not specified [RCV003226721] Chr8:42330977 [GRCh38]
Chr8:42188495 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2167A>G (p.Ile723Val) single nucleotide variant Inborn genetic diseases [RCV003219466] Chr8:42329176 [GRCh38]
Chr8:42186694 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.139C>T (p.Arg47Trp) single nucleotide variant not provided [RCV003133696] Chr8:42288667 [GRCh38]
Chr8:42146185 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1342C>T (p.Gln448Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003224690] Chr8:42318653 [GRCh38]
Chr8:42176171 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 copy number gain See cases [RCV003329560] Chr8:36763176..50929707 [GRCh37]
Chr8:8p11.23-q11.21		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_001556.3(IKBKB):c.1241-12C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003875585] Chr8:42318540 [GRCh38]
Chr8:42176058 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.687G>A (p.Val229=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003872772] Chr8:42309020 [GRCh38]
Chr8:42166538 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
NM_001556.3(IKBKB):c.1112T>C (p.Ile371Thr) single nucleotide variant IKBKB-related condition [RCV003402787] Chr8:42316891 [GRCh38]
Chr8:42174409 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2027T>G (p.Met676Arg) single nucleotide variant IKBKB-related condition [RCV003406242] Chr8:42326010 [GRCh38]
Chr8:42183528 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.*239C>A single nucleotide variant not specified [RCV003397169] Chr8:42331218 [GRCh38]
Chr8:42188736 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.477+2T>C single nucleotide variant not provided [RCV003435481] Chr8:42305277 [GRCh38]
Chr8:42162795 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_001556.3(IKBKB):c.1241-2A>C single nucleotide variant IKBKB-related condition [RCV003422471] Chr8:42318550 [GRCh38]
Chr8:42176068 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_001556.3(IKBKB):c.1215C>G (p.Pro405=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745599]|not provided [RCV003423919] Chr8:42317746 [GRCh38]
Chr8:42175264 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.11C>A (p.Ser4Ter) single nucleotide variant IKBKB-related condition [RCV003416953] Chr8:42272111 [GRCh38]
Chr8:42129629 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_001556.3(IKBKB):c.-106G>A single nucleotide variant not provided [RCV003435480] Chr8:42271382 [GRCh38]
Chr8:42128900 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.891T>C (p.Asn297=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003831104] Chr8:42316300 [GRCh38]
Chr8:42173818 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1516+12C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003879534] Chr8:42319433 [GRCh38]
Chr8:42176951 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.27G>A (p.Thr9=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003849300] Chr8:42272127 [GRCh38]
Chr8:42129645 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.388+13C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003877060] Chr8:42293525 [GRCh38]
Chr8:42151043 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.106-16T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003828104] Chr8:42288618 [GRCh38]
Chr8:42146136 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.792T>C (p.Asn264=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003879066] Chr8:42314421 [GRCh38]
Chr8:42171939 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2115-3T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003877050] Chr8:42329121 [GRCh38]
Chr8:42186639 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1364+16T>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003879208] Chr8:42318691 [GRCh38]
Chr8:42176209 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1896G>A (p.Val632=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003876604] Chr8:42322404 [GRCh38]
Chr8:42179922 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.597C>T (p.Tyr199=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003827521] Chr8:42308930 [GRCh38]
Chr8:42166448 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.318+16C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003829835] Chr8:42290289 [GRCh38]
Chr8:42147807 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.282G>A (p.Leu94=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003826637] Chr8:42290237 [GRCh38]
Chr8:42147755 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.318+14G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003876394] Chr8:42290287 [GRCh38]
Chr8:42147805 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1738+9G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003878767] Chr8:42321954 [GRCh38]
Chr8:42179472 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1364+13G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003882716] Chr8:42318688 [GRCh38]
Chr8:42176206 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.380G>A (p.Ser127Asn) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003879533] Chr8:42293504 [GRCh38]
Chr8:42151022 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2114+19T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743059] Chr8:42326116 [GRCh38]
Chr8:42183634 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2114+7C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743076] Chr8:42326104 [GRCh38]
Chr8:42183622 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.690G>A (p.Gln230=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745085] Chr8:42309023 [GRCh38]
Chr8:42166541 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1689-11G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743120] Chr8:42321885 [GRCh38]
Chr8:42179403 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1429C>T (p.Gln477Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743123] Chr8:42319334 [GRCh38]
Chr8:42176852 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.200+12G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745157] Chr8:42288740 [GRCh38]
Chr8:42146258 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1086C>A (p.Ile362=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745111] Chr8:42316865 [GRCh38]
Chr8:42174383 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.72G>C (p.Gly24=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745143] Chr8:42272172 [GRCh38]
Chr8:42129690 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.389-11del deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV003745163] Chr8:42305171 [GRCh38]
Chr8:42162689 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.203T>G (p.Leu68Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743065] Chr8:42290158 [GRCh38]
Chr8:42147676 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.567+12G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745236] Chr8:42306444 [GRCh38]
Chr8:42163962 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2190A>G (p.Gln730=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743230] Chr8:42329199 [GRCh38]
Chr8:42186717 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2155C>T (p.Leu719=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745135] Chr8:42329164 [GRCh38]
Chr8:42186682 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.954C>A (p.Val318=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743237] Chr8:42316733 [GRCh38]
Chr8:42174251 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.277C>T (p.Leu93=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743100] Chr8:42290232 [GRCh38]
Chr8:42147750 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2114+16C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743315] Chr8:42326113 [GRCh38]
Chr8:42183631 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1923G>A (p.Lys641=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743304] Chr8:42322431 [GRCh38]
Chr8:42179949 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1650C>T (p.Ser550=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743342] Chr8:42320806 [GRCh38]
Chr8:42178324 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.212C>T (p.Pro71Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743321] Chr8:42290167 [GRCh38]
Chr8:42147685 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.567+10G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743327] Chr8:42306442 [GRCh38]
Chr8:42163960 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.201-7C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743356] Chr8:42290149 [GRCh38]
Chr8:42147667 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.477+19C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745721] Chr8:42305294 [GRCh38]
Chr8:42162812 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.800+11G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745701] Chr8:42314440 [GRCh38]
Chr8:42171958 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.930+19T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745710] Chr8:42316358 [GRCh38]
Chr8:42173876 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.702A>G (p.Lys234=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745667] Chr8:42314331 [GRCh38]
Chr8:42171849 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1680G>A (p.Leu560=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745731] Chr8:42320836 [GRCh38]
Chr8:42178354 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2115-16T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743456] Chr8:42329108 [GRCh38]
Chr8:42186626 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1739-15C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583251] Chr8:42322039 [GRCh38]
Chr8:42179557 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.430C>A (p.Arg144=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745841] Chr8:42305228 [GRCh38]
Chr8:42162746 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.105+18C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745749] Chr8:42272223 [GRCh38]
Chr8:42129741 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.261G>T (p.Ala87=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583297] Chr8:42290216 [GRCh38]
Chr8:42147734 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1528C>T (p.Leu510=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745839] Chr8:42319596 [GRCh38]
Chr8:42177114 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2115-11A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003833197] Chr8:42329113 [GRCh38]
Chr8:42186631 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1480C>T (p.Leu494=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745811] Chr8:42319385 [GRCh38]
Chr8:42176903 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2205+12T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745866] Chr8:42329226 [GRCh38]
Chr8:42186744 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.319-5G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583339] Chr8:42293438 [GRCh38]
Chr8:42150956 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1839-7T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003811577] Chr8:42322340 [GRCh38]
Chr8:42179858 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1632T>C (p.Ile544=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583393] Chr8:42320788 [GRCh38]
Chr8:42178306 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1281G>A (p.Arg427=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744109] Chr8:42318592 [GRCh38]
Chr8:42176110 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.162C>G (p.Asn54Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744152] Chr8:42288690 [GRCh38]
Chr8:42146208 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1838+7G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744128] Chr8:42322160 [GRCh38]
Chr8:42179678 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.978T>G (p.Pro326=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744281] Chr8:42316757 [GRCh38]
Chr8:42174275 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1365-7C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744304] Chr8:42319263 [GRCh38]
Chr8:42176781 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.693-9T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744362] Chr8:42314313 [GRCh38]
Chr8:42171831 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1947G>A (p.Lys649=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744374] Chr8:42322455 [GRCh38]
Chr8:42179973 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1849G>A (p.Val617Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744406] Chr8:42322357 [GRCh38]
Chr8:42179875 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.201-6T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744369] Chr8:42290150 [GRCh38]
Chr8:42147668 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.780C>T (p.Pro260=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003832532] Chr8:42314409 [GRCh38]
Chr8:42171927 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1839-16T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744442] Chr8:42322331 [GRCh38]
Chr8:42179849 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1404G>T (p.Met468Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744469] Chr8:42319309 [GRCh38]
Chr8:42176827 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1987-17T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744389] Chr8:42325953 [GRCh38]
Chr8:42183471 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.801-9T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744452] Chr8:42316201 [GRCh38]
Chr8:42173719 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1579-8dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV003744509] Chr8:42320723..42320724 [GRCh38]
Chr8:42178241..42178242 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1205C>G (p.Ser402Cys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744487] Chr8:42317736 [GRCh38]
Chr8:42175254 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2139T>C (p.His713=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745069] Chr8:42329148 [GRCh38]
Chr8:42186666 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.1125+15C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003835284] Chr8:42316919 [GRCh38]
Chr8:42174437 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.712A>C (p.Lys238Gln) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743090] Chr8:42314341 [GRCh38]
Chr8:42171859 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1272C>T (p.Phe424=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583972] Chr8:42318583 [GRCh38]
Chr8:42176101 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1125+16G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003833386] Chr8:42316920 [GRCh38]
Chr8:42174438 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1170T>C (p.Phe390=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744251] Chr8:42317701 [GRCh38]
Chr8:42175219 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.514G>A (p.Glu172Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743199] Chr8:42306379 [GRCh38]
Chr8:42163897 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1914G>A (p.Glu638=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744276] Chr8:42322422 [GRCh38]
Chr8:42179940 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1689-16T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744280] Chr8:42321880 [GRCh38]
Chr8:42179398 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.692+11C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743279] Chr8:42309036 [GRCh38]
Chr8:42166554 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1987-15G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744307] Chr8:42325955 [GRCh38]
Chr8:42183473 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.693-13T>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744320] Chr8:42314309 [GRCh38]
Chr8:42171827 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1884G>A (p.Lys628=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744343] Chr8:42322392 [GRCh38]
Chr8:42179910 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1579-20T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744356] Chr8:42320715 [GRCh38]
Chr8:42178233 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.567+16T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744358] Chr8:42306448 [GRCh38]
Chr8:42163966 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.699A>G (p.Ser233=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743373] Chr8:42314328 [GRCh38]
Chr8:42171846 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1503C>G (p.Thr501=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743376] Chr8:42319408 [GRCh38]
Chr8:42176926 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.389-15C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743387] Chr8:42305172 [GRCh38]
Chr8:42162690 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2055G>A (p.Gly685=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744366] Chr8:42326038 [GRCh38]
Chr8:42183556 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2083T>C (p.Ser695Pro) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744410] Chr8:42326066 [GRCh38]
Chr8:42183584 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1431G>A (p.Gln477=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744400] Chr8:42319336 [GRCh38]
Chr8:42176854 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.567+12G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745703] Chr8:42306444 [GRCh38]
Chr8:42163962 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1364+13G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743392] Chr8:42318688 [GRCh38]
Chr8:42176206 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1986+8_1986+11del microsatellite Severe combined immunodeficiency due to IKK2 deficiency [RCV003743393] Chr8:42322495..42322498 [GRCh38]
Chr8:42180013..42180016 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1830G>A (p.Thr610=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743422] Chr8:42322145 [GRCh38]
Chr8:42179663 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.699A>C (p.Ser233=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003851991] Chr8:42314328 [GRCh38]
Chr8:42171846 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.200+11C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744444] Chr8:42288739 [GRCh38]
Chr8:42146257 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1847_1848del (p.Val616fs) microsatellite Severe combined immunodeficiency due to IKK2 deficiency [RCV003744460] Chr8:42322353..42322354 [GRCh38]
Chr8:42179871..42179872 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.1688+19G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745714] Chr8:42320863 [GRCh38]
Chr8:42178381 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2206-13T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744476] Chr8:42330901 [GRCh38]
Chr8:42188419 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.105+18del deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV003744486] Chr8:42272223 [GRCh38]
Chr8:42129741 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1739-15C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744493] Chr8:42322039 [GRCh38]
Chr8:42179557 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1517-10_1517-9insG insertion Severe combined immunodeficiency due to IKK2 deficiency [RCV003745730] Chr8:42319575..42319576 [GRCh38]
Chr8:42177093..42177094 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.200+18A>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745766] Chr8:42288746 [GRCh38]
Chr8:42146264 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.537C>T (p.Cys179=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745769] Chr8:42306402 [GRCh38]
Chr8:42163920 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1578+11C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745826] Chr8:42319657 [GRCh38]
Chr8:42177175 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.972C>T (p.Thr324=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743533] Chr8:42316751 [GRCh38]
Chr8:42174269 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.388+18A>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744532] Chr8:42293530 [GRCh38]
Chr8:42151048 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1986+17G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583343] Chr8:42322511 [GRCh38]
Chr8:42180029 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.359G>A (p.Gly120Asp) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745867] Chr8:42293483 [GRCh38]
Chr8:42151001 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1839-9T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583535] Chr8:42322338 [GRCh38]
Chr8:42179856 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1533G>A (p.Leu511=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744519] Chr8:42319601 [GRCh38]
Chr8:42177119 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.745T>C (p.Leu249=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583624] Chr8:42314374 [GRCh38]
Chr8:42171892 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1806G>A (p.Glu602=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744075] Chr8:42322121 [GRCh38]
Chr8:42179639 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1599G>T (p.Leu533=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743125] Chr8:42320755 [GRCh38]
Chr8:42178273 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2043T>C (p.Leu681=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003856688] Chr8:42326026 [GRCh38]
Chr8:42183544 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1365-2A>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583790] Chr8:42319268 [GRCh38]
Chr8:42176786 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_001556.3(IKBKB):c.1517-12A>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583889] Chr8:42319573 [GRCh38]
Chr8:42177091 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1172A>G (p.Asp391Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003839906] Chr8:42317703 [GRCh38]
Chr8:42175221 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.200+7G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003584004] Chr8:42288735 [GRCh38]
Chr8:42146253 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2114+19T>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743220] Chr8:42326116 [GRCh38]
Chr8:42183634 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1364+11A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744201] Chr8:42318686 [GRCh38]
Chr8:42176204 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.800+13G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583552] Chr8:42314442 [GRCh38]
Chr8:42171960 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1688+8C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743388] Chr8:42320852 [GRCh38]
Chr8:42178370 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1098T>C (p.Pro366=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743415] Chr8:42316877 [GRCh38]
Chr8:42174395 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1839-11A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743435] Chr8:42322336 [GRCh38]
Chr8:42179854 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1517-4T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745712] Chr8:42319581 [GRCh38]
Chr8:42177099 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.105+10C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745732] Chr8:42272215 [GRCh38]
Chr8:42129733 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.756G>C (p.Thr252=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583651] Chr8:42314385 [GRCh38]
Chr8:42171903 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.812A>C (p.Glu271Ala) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583659] Chr8:42316221 [GRCh38]
Chr8:42173739 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.382G>A (p.Asp128Asn) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745774] Chr8:42293506 [GRCh38]
Chr8:42151024 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1838+8C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745808] Chr8:42322161 [GRCh38]
Chr8:42179679 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1696C>T (p.Gln566Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583255] Chr8:42321903 [GRCh38]
Chr8:42179421 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.1689-15C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743534] Chr8:42321881 [GRCh38]
Chr8:42179399 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1739-4C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583288] Chr8:42322050 [GRCh38]
Chr8:42179568 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2007C>T (p.Val669=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744120] Chr8:42325990 [GRCh38]
Chr8:42183508 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2260C>T (p.Gln754Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583726] Chr8:42330968 [GRCh38]
Chr8:42188486 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.692+14G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744150] Chr8:42309039 [GRCh38]
Chr8:42166557 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2114+15G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744192] Chr8:42326112 [GRCh38]
Chr8:42183630 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.273G>T (p.Leu91=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583777] Chr8:42290228 [GRCh38]
Chr8:42147746 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1503C>T (p.Thr501=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583782] Chr8:42319408 [GRCh38]
Chr8:42176926 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.93A>G (p.Arg31=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583679] Chr8:42272193 [GRCh38]
Chr8:42129711 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1714A>G (p.Arg572Gly) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583707] Chr8:42321921 [GRCh38]
Chr8:42179439 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1241-18T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744377] Chr8:42318534 [GRCh38]
Chr8:42176052 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.456C>T (p.Val152=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583818] Chr8:42305254 [GRCh38]
Chr8:42162772 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1893G>A (p.Glu631=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744390] Chr8:42322401 [GRCh38]
Chr8:42179919 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2114+12T>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583403] Chr8:42326109 [GRCh38]
Chr8:42183627 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1241-5T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583860] Chr8:42318547 [GRCh38]
Chr8:42176065 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.42C>T (p.Ala14=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583414] Chr8:42272142 [GRCh38]
Chr8:42129660 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.568-14dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV003744495] Chr8:42308886..42308887 [GRCh38]
Chr8:42166404..42166405 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1977G>A (p.Lys659=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583940] Chr8:42322485 [GRCh38]
Chr8:42180003 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1364+15T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583476] Chr8:42318690 [GRCh38]
Chr8:42176208 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2205+20T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583871] Chr8:42329234 [GRCh38]
Chr8:42186752 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.930+7G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743118] Chr8:42316346 [GRCh38]
Chr8:42173864 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.780C>G (p.Pro260=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583503] Chr8:42314409 [GRCh38]
Chr8:42171927 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.126C>T (p.Ala42=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003584002] Chr8:42288654 [GRCh38]
Chr8:42146172 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1517-11T>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743149] Chr8:42319574 [GRCh38]
Chr8:42177092 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1987-14A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745281] Chr8:42325956 [GRCh38]
Chr8:42183474 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.178C>T (p.Leu60=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003584022] Chr8:42288706 [GRCh38]
Chr8:42146224 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.388+10A>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583449] Chr8:42293522 [GRCh38]
Chr8:42151040 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.931-6T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003584000] Chr8:42316704 [GRCh38]
Chr8:42174222 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.703G>A (p.Val235Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583728] Chr8:42314332 [GRCh38]
Chr8:42171850 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2115-12C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583811] Chr8:42329112 [GRCh38]
Chr8:42186630 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.692+12dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV003583848] Chr8:42309034..42309035 [GRCh38]
Chr8:42166552..42166553 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2235A>G (p.Glu745=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743160] Chr8:42330943 [GRCh38]
Chr8:42188461 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.767C>T (p.Ser256Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745189] Chr8:42314396 [GRCh38]
Chr8:42171914 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.517C>T (p.Leu173=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744187] Chr8:42306382 [GRCh38]
Chr8:42163900 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1071G>C (p.Ala357=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744203] Chr8:42316850 [GRCh38]
Chr8:42174368 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.651G>C (p.Thr217=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744213] Chr8:42308984 [GRCh38]
Chr8:42166502 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1688+17G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583820] Chr8:42320861 [GRCh38]
Chr8:42178379 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.931-18A>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583830] Chr8:42316692 [GRCh38]
Chr8:42174210 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.882T>C (p.Tyr294=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583906] Chr8:42316291 [GRCh38]
Chr8:42173809 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1719A>G (p.Arg573=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745282] Chr8:42321926 [GRCh38]
Chr8:42179444 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2254C>T (p.Leu752=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744254] Chr8:42330962 [GRCh38]
Chr8:42188480 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.384C>T (p.Asp128=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744262] Chr8:42293508 [GRCh38]
Chr8:42151026 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.264C>T (p.Pro88=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583621] Chr8:42290219 [GRCh38]
Chr8:42147737 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1579-5A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583627] Chr8:42320730 [GRCh38]
Chr8:42178248 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1480C>A (p.Leu494Met) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583959] Chr8:42319385 [GRCh38]
Chr8:42176903 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1263C>T (p.Leu421=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583977] Chr8:42318574 [GRCh38]
Chr8:42176092 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1215C>T (p.Pro405=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583900] Chr8:42317746 [GRCh38]
Chr8:42175264 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2052T>G (p.Pro684=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743256] Chr8:42326035 [GRCh38]
Chr8:42183553 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1689-12T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744314] Chr8:42321884 [GRCh38]
Chr8:42179402 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.568-16C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743361] Chr8:42308885 [GRCh38]
Chr8:42166403 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1572T>C (p.Cys524=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745691] Chr8:42319640 [GRCh38]
Chr8:42177158 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1557G>C (p.Gln519His) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744433] Chr8:42319625 [GRCh38]
Chr8:42177143 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.389-16C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583686] Chr8:42305171 [GRCh38]
Chr8:42162689 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1056G>A (p.Glu352=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745638] Chr8:42316835 [GRCh38]
Chr8:42174353 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1587A>G (p.Glu529=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583277] Chr8:42320743 [GRCh38]
Chr8:42178261 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1665G>A (p.Lys555=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744490] Chr8:42320821 [GRCh38]
Chr8:42178339 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1867C>T (p.Leu623=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743463] Chr8:42322375 [GRCh38]
Chr8:42179893 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1872A>G (p.Glu624=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583298] Chr8:42322380 [GRCh38]
Chr8:42179898 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.81A>T (p.Gly27=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583323] Chr8:42272181 [GRCh38]
Chr8:42129699 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.567+7A>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583264] Chr8:42306439 [GRCh38]
Chr8:42163957 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.834A>G (p.Gln278=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745870] Chr8:42316243 [GRCh38]
Chr8:42173761 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1738+15G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745892] Chr8:42321960 [GRCh38]
Chr8:42179478 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.693-15G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583902] Chr8:42314307 [GRCh38]
Chr8:42171825 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.177C>T (p.Cys59=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583909] Chr8:42288705 [GRCh38]
Chr8:42146223 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.800+10A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744118] Chr8:42314439 [GRCh38]
Chr8:42171957 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1126-12G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745171] Chr8:42317645 [GRCh38]
Chr8:42175163 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1364+16_1364+17insG insertion Severe combined immunodeficiency due to IKK2 deficiency [RCV003837214] Chr8:42318691..42318692 [GRCh38]
Chr8:42176209..42176210 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.894C>T (p.Gly298=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743154] Chr8:42316303 [GRCh38]
Chr8:42173821 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1503C>A (p.Thr501=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743170] Chr8:42319408 [GRCh38]
Chr8:42176926 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.800+13G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583406] Chr8:42314442 [GRCh38]
Chr8:42171960 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1688+18G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003816651] Chr8:42320862 [GRCh38]
Chr8:42178380 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1254G>A (p.Lys418=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003839200] Chr8:42318565 [GRCh38]
Chr8:42176083 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1738+18T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744199] Chr8:42321963 [GRCh38]
Chr8:42179481 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1241-8G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744216] Chr8:42318544 [GRCh38]
Chr8:42176062 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.477+18A>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743224] Chr8:42305293 [GRCh38]
Chr8:42162811 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2151C>G (p.Thr717=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743234] Chr8:42329160 [GRCh38]
Chr8:42186678 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.648C>T (p.Ile216=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743257] Chr8:42308981 [GRCh38]
Chr8:42166499 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.436C>T (p.Leu146=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743260] Chr8:42305234 [GRCh38]
Chr8:42162752 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1959G>A (p.Glu653=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003838208] Chr8:42322467 [GRCh38]
Chr8:42179985 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2185G>A (p.Glu729Lys) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583420] Chr8:42329194 [GRCh38]
Chr8:42186712 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1569C>T (p.Leu523=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745687] Chr8:42319637 [GRCh38]
Chr8:42177155 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.568-11T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583352] Chr8:42308890 [GRCh38]
Chr8:42166408 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2220C>A (p.Ser740Arg) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583457] Chr8:42330928 [GRCh38]
Chr8:42188446 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.931-20A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744348] Chr8:42316690 [GRCh38]
Chr8:42174208 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1738+8G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744355] Chr8:42321953 [GRCh38]
Chr8:42179471 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1688+20C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744402] Chr8:42320864 [GRCh38]
Chr8:42178382 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2114+18G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743378] Chr8:42326115 [GRCh38]
Chr8:42183633 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.931-19C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003743401] Chr8:42316691 [GRCh38]
Chr8:42174209 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1578+7G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745631] Chr8:42319653 [GRCh38]
Chr8:42177171 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.576G>A (p.Glu192=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745654] Chr8:42308909 [GRCh38]
Chr8:42166427 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.552G>A (p.Gly184=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003836121] Chr8:42306417 [GRCh38]
Chr8:42163935 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1671G>A (p.Gly557=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583467] Chr8:42320827 [GRCh38]
Chr8:42178345 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1738+19C>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583468] Chr8:42321964 [GRCh38]
Chr8:42179482 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1517-18T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583731] Chr8:42319567 [GRCh38]
Chr8:42177085 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1773A>G (p.Val591=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744393] Chr8:42322088 [GRCh38]
Chr8:42179606 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1365-17C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583279] Chr8:42319253 [GRCh38]
Chr8:42176771 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.931-18A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745779] Chr8:42316692 [GRCh38]
Chr8:42174210 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1413C>T (p.Ser471=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583490] Chr8:42319318 [GRCh38]
Chr8:42176836 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.925T>C (p.Leu309=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583761] Chr8:42316334 [GRCh38]
Chr8:42173852 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1739-12C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583949] Chr8:42322042 [GRCh38]
Chr8:42179560 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.817C>T (p.Leu273=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583999] Chr8:42316226 [GRCh38]
Chr8:42173744 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.201-11C>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744537] Chr8:42290145 [GRCh38]
Chr8:42147663 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.477+12C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745805] Chr8:42305287 [GRCh38]
Chr8:42162805 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.580C>T (p.Leu194=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583267] Chr8:42308913 [GRCh38]
Chr8:42166431 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1986+14G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583259] Chr8:42322508 [GRCh38]
Chr8:42180026 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1188C>G (p.Thr396=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745869] Chr8:42317719 [GRCh38]
Chr8:42175237 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.693-10A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745882] Chr8:42314312 [GRCh38]
Chr8:42171830 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.106-7T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583523] Chr8:42288627 [GRCh38]
Chr8:42146145 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1516+18A>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583536] Chr8:42319439 [GRCh38]
Chr8:42176957 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.477+8A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583775] Chr8:42305283 [GRCh38]
Chr8:42162801 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2116del (p.Glu706fs) deletion Severe combined immunodeficiency due to IKK2 deficiency [RCV003583980] Chr8:42329125 [GRCh38]
Chr8:42186643 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.2114+14A>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583400] Chr8:42326111 [GRCh38]
Chr8:42183629 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1851T>G (p.Val617=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003583799] Chr8:42322359 [GRCh38]
Chr8:42179877 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.568-9T>C single nucleotide variant IKBKB-related condition [RCV003981004]|Severe combined immunodeficiency due to IKK2 deficiency [RCV003583648] Chr8:42308892 [GRCh38]
Chr8:42166410 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.13C>A (p.Pro5Thr) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003584023] Chr8:42272113 [GRCh38]
Chr8:42129631 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.1308C>T (p.Ser436=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003744116] Chr8:42318619 [GRCh38]
Chr8:42176137 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1930G>A (p.Val644Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003822734] Chr8:42322438 [GRCh38]
Chr8:42179956 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.200+15C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003848552] Chr8:42288743 [GRCh38]
Chr8:42146261 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1125+20A>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003843567] Chr8:42316924 [GRCh38]
Chr8:42174442 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.388+16G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003821470] Chr8:42293528 [GRCh38]
Chr8:42151046 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.200+14G>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003854310] Chr8:42288742 [GRCh38]
Chr8:42146260 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3 copy number gain not specified [RCV003986759] Chr8:37988714..43780050 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3 copy number gain not specified [RCV003986761] Chr8:37972810..43837099 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
NM_001556.3(IKBKB):c.105+19T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003871531] Chr8:42272224 [GRCh38]
Chr8:42129742 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.723G>A (p.Val241=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003867524] Chr8:42314352 [GRCh38]
Chr8:42171870 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1023A>G (p.Gln341=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003871858] Chr8:42316802 [GRCh38]
Chr8:42174320 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1688+19G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003866915] Chr8:42320863 [GRCh38]
Chr8:42178381 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1479C>T (p.Asp493=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745991] Chr8:42319384 [GRCh38]
Chr8:42176902 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
NM_001556.3(IKBKB):c.1723A>C (p.Arg575=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745972] Chr8:42321930 [GRCh38]
Chr8:42179448 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001556.3(IKBKB):c.1336C>A (p.Arg446=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003865266] Chr8:42318647 [GRCh38]
Chr8:42176165 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.894C>G (p.Gly298=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003818278] Chr8:42316303 [GRCh38]
Chr8:42173821 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1986+16G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003865446] Chr8:42322510 [GRCh38]
Chr8:42180028 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.800+12C>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003845278] Chr8:42314441 [GRCh38]
Chr8:42171959 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1738+14T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745932] Chr8:42321959 [GRCh38]
Chr8:42179477 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.669C>T (p.Leu223=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745950] Chr8:42309002 [GRCh38]
Chr8:42166520 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1241-20G>T single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745953] Chr8:42318532 [GRCh38]
Chr8:42176050 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2115-17T>G single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745956] Chr8:42329107 [GRCh38]
Chr8:42186625 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1608G>A (p.Arg536=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745957] Chr8:42320764 [GRCh38]
Chr8:42178282 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1686C>T (p.Asp562=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003745969] Chr8:42320842 [GRCh38]
Chr8:42178360 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.2005G>C (p.Val669Leu) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003860479] Chr8:42325988 [GRCh38]
Chr8:42183506 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.2259G>A (p.Glu753=) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003844240] Chr8:42330967 [GRCh38]
Chr8:42188485 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1416G>C (p.Met472Ile) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003846291] Chr8:42319321 [GRCh38]
Chr8:42176839 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.106-4G>A single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003862672] Chr8:42288630 [GRCh38]
Chr8:42146148 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.801-12T>C single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003858607] Chr8:42316198 [GRCh38]
Chr8:42173716 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.1735C>T (p.Arg579Ter) single nucleotide variant Severe combined immunodeficiency due to IKK2 deficiency [RCV003866269] Chr8:42321942 [GRCh38]
Chr8:42179460 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_001556.3(IKBKB):c.-24C>G single nucleotide variant IKBKB-related condition [RCV003901647] Chr8:42271464 [GRCh38]
Chr8:42128982 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_001556.3(IKBKB):c.-40T>A single nucleotide variant IKBKB-related condition [RCV003934671] Chr8:42271448 [GRCh38]
Chr8:42128966 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.-107G>C single nucleotide variant IKBKB-related condition [RCV003914636] Chr8:42271381 [GRCh38]
Chr8:42128899 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.-58C>G single nucleotide variant IKBKB-related condition [RCV003931556] Chr8:42271430 [GRCh38]
Chr8:42128948 [GRCh37]
Chr8:8p11.21		 likely benign
NM_001556.3(IKBKB):c.-19+8C>T single nucleotide variant IKBKB-related condition [RCV003914281] Chr8:42271477 [GRCh38]
Chr8:42128995 [GRCh37]
Chr8:8p11.21		 benign
NM_001556.3(IKBKB):c.-40T>C single nucleotide variant IKBKB-related condition [RCV003924388] Chr8:42271448 [GRCh38]
Chr8:42128966 [GRCh37]
Chr8:8p11.21		 benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR218-2hsa-miR-218-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20933503
MIR218-2hsa-miR-218-5pOncomiRDBexternal_infoNANA20933503
MIR199A1hsa-miR-199a-5pMirtarbaseexternal_infoReporter assay//Western blot//GFP reporter assay//Functional MTI18408758

Predicted Target Of
Summary Value
Count of predictions:11847
Count of miRNA genes:1334
Interacting mature miRNAs:1799
Transcripts:ENST00000342222, ENST00000379708, ENST00000416505, ENST00000517388, ENST00000517502, ENST00000517812, ENST00000517890, ENST00000517917, ENST00000518647, ENST00000518679, ENST00000518983, ENST00000519733, ENST00000519735, ENST00000519938, ENST00000520201, ENST00000520320, ENST00000520655, ENST00000520810, ENST00000520835, ENST00000521225, ENST00000521661, ENST00000522103, ENST00000522133, ENST00000522147, ENST00000522545, ENST00000522785, ENST00000523018, ENST00000523105, ENST00000523517, ENST00000523599
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH75091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,189,681 - 42,189,920UniSTSGRCh37
Build 36842,308,838 - 42,309,077RGDNCBI36
Celera841,138,345 - 41,138,584RGD
Cytogenetic Map8p11.2UniSTS
HuRef840,717,207 - 40,717,446UniSTS
RH104595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,179,436 - 42,179,945UniSTSGRCh37
Build 36842,298,593 - 42,299,102RGDNCBI36
Celera841,128,411 - 41,128,920RGD
Cytogenetic Map8p11.2UniSTS
HuRef840,707,273 - 40,707,782UniSTS
STS-N21119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,189,688 - 42,189,811UniSTSGRCh37
Build 36842,308,845 - 42,308,968RGDNCBI36
Celera841,138,352 - 41,138,475RGD
Cytogenetic Map8p11.2UniSTS
HuRef840,717,214 - 40,717,337UniSTS
GeneMap99-GB4 RH Map8189.78UniSTS
NCBI RH Map8640.0UniSTS
D10S16   No map positions available.
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2363 2160 1384 301 1763 143 4183 1686 1995 258 1396 1551 169 1204 2695 4 2
Low 76 831 342 323 188 322 174 511 1739 161 64 62 6 1 93 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_040009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC083973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF031416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF080158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI379342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL708460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY663108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA043516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA105584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA159382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA709000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC738785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC738786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC738787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC738788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC738789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC738790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342222   ⟹   ENSP00000339151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,334 - 42,332,450 (+)Ensembl
RefSeq Acc Id: ENST00000416505   ⟹   ENSP00000404920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,290,168 - 42,332,437 (+)Ensembl
RefSeq Acc Id: ENST00000517388   ⟹   ENSP00000429924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,390 - 42,308,932 (+)Ensembl
RefSeq Acc Id: ENST00000517502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,317,657 - 42,320,517 (+)Ensembl
RefSeq Acc Id: ENST00000517812   ⟹   ENSP00000429357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,572 - 42,305,236 (+)Ensembl
RefSeq Acc Id: ENST00000517890   ⟹   ENSP00000428799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,316 - 42,331,132 (+)Ensembl
RefSeq Acc Id: ENST00000517917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,319 - 42,319,750 (+)Ensembl
RefSeq Acc Id: ENST00000518647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,390 - 42,317,224 (+)Ensembl
RefSeq Acc Id: ENST00000518679   ⟹   ENSP00000430557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,319 - 42,331,910 (+)Ensembl
RefSeq Acc Id: ENST00000518983   ⟹   ENSP00000427978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,370 - 42,272,429 (+)Ensembl
RefSeq Acc Id: ENST00000519733   ⟹   ENSP00000429319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,318 - 42,308,998 (+)Ensembl
RefSeq Acc Id: ENST00000519735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,318 - 42,309,765 (+)Ensembl
RefSeq Acc Id: ENST00000519938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,320,706 - 42,331,609 (+)Ensembl
RefSeq Acc Id: ENST00000520201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,389 - 42,332,455 (+)Ensembl
RefSeq Acc Id: ENST00000520320   ⟹   ENSP00000429699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,310 - 42,306,354 (+)Ensembl
RefSeq Acc Id: ENST00000520655   ⟹   ENSP00000428922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,463 - 42,331,909 (+)Ensembl
RefSeq Acc Id: ENST00000520810   ⟹   ENSP00000430684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,302 - 42,332,460 (+)Ensembl
RefSeq Acc Id: ENST00000520835   ⟹   ENSP00000430868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,318 - 42,331,067 (+)Ensembl
RefSeq Acc Id: ENST00000521225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,325,294 - 42,329,187 (+)Ensembl
RefSeq Acc Id: ENST00000521661   ⟹   ENSP00000428186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,436 - 42,329,215 (+)Ensembl
RefSeq Acc Id: ENST00000522103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,325,610 - 42,331,909 (+)Ensembl
RefSeq Acc Id: ENST00000522133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,322,418 - 42,326,468 (+)Ensembl
RefSeq Acc Id: ENST00000522147   ⟹   ENSP00000428892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,272,083 - 42,332,037 (+)Ensembl
RefSeq Acc Id: ENST00000522545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,314,025 - 42,316,256 (+)Ensembl
RefSeq Acc Id: ENST00000522785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,318,608 - 42,319,870 (+)Ensembl
RefSeq Acc Id: ENST00000523018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,322,441 - 42,329,314 (+)Ensembl
RefSeq Acc Id: ENST00000523105   ⟹   ENSP00000429239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,318 - 42,322,461 (+)Ensembl
RefSeq Acc Id: ENST00000523517   ⟹   ENSP00000430114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,272,083 - 42,331,121 (+)Ensembl
RefSeq Acc Id: ENST00000523599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,319,156 - 42,332,316 (+)Ensembl
RefSeq Acc Id: ENST00000629753   ⟹   ENSP00000486961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,271,310 - 42,332,437 (+)Ensembl
RefSeq Acc Id: ENST00000648136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,290,192 - 42,331,527 (+)Ensembl
RefSeq Acc Id: ENST00000649612   ⟹   ENSP00000497383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,290,192 - 42,331,880 (+)Ensembl
RefSeq Acc Id: ENST00000649751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,319,250 - 42,319,878 (+)Ensembl
RefSeq Acc Id: ENST00000676525   ⟹   ENSP00000503997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,290,229 - 42,332,315 (+)Ensembl
RefSeq Acc Id: NM_001190720   ⟹   NP_001177649
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,302 - 42,332,450 (+)NCBI
GRCh37842,128,820 - 42,190,171 (+)NCBI
HuRef840,656,604 - 40,717,697 (+)ENTREZGENE
CHM1_1842,177,451 - 42,238,764 (+)NCBI
T2T-CHM13v2.0842,545,654 - 42,606,491 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242778   ⟹   NP_001229707
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,302 - 42,332,460 (+)NCBI
GRCh37842,128,820 - 42,190,171 (+)NCBI
HuRef840,656,604 - 40,717,697 (+)ENTREZGENE
CHM1_1842,177,451 - 42,238,764 (+)NCBI
T2T-CHM13v2.0842,545,654 - 42,606,501 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001556   ⟹   NP_001547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,302 - 42,332,460 (+)NCBI
GRCh37842,128,820 - 42,190,171 (+)ENTREZGENE
GRCh37842,128,820 - 42,190,171 (+)NCBI
Build 36842,247,986 - 42,309,122 (+)NCBI Archive
HuRef840,656,604 - 40,717,697 (+)ENTREZGENE
CHM1_1842,177,451 - 42,238,764 (+)NCBI
T2T-CHM13v2.0842,545,654 - 42,606,501 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033818
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,302 - 42,332,460 (+)NCBI
GRCh37842,128,820 - 42,190,171 (+)NCBI
HuRef840,656,604 - 40,717,697 (+)ENTREZGENE
CHM1_1842,177,451 - 42,238,764 (+)NCBI
T2T-CHM13v2.0842,545,654 - 42,606,501 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033819
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,302 - 42,332,460 (+)NCBI
GRCh37842,128,820 - 42,190,171 (+)NCBI
HuRef840,656,604 - 40,717,697 (+)ENTREZGENE
CHM1_1842,177,451 - 42,238,764 (+)NCBI
T2T-CHM13v2.0842,545,654 - 42,606,501 (+)NCBI
Sequence:
RefSeq Acc Id: NR_040009
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,302 - 42,332,460 (+)NCBI
GRCh37842,128,820 - 42,190,171 (+)NCBI
HuRef840,656,604 - 40,717,697 (+)ENTREZGENE
CHM1_1842,177,451 - 42,238,764 (+)NCBI
T2T-CHM13v2.0842,545,654 - 42,606,501 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544517   ⟹   XP_011542819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,715 - 42,330,339 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544520   ⟹   XP_011542822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,567 - 42,330,339 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421757   ⟹   XP_047277713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,716 - 42,332,460 (+)NCBI
RefSeq Acc Id: XM_047421758   ⟹   XP_047277714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,715 - 42,330,339 (+)NCBI
RefSeq Acc Id: XM_047421759   ⟹   XP_047277715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,272,089 - 42,330,339 (+)NCBI
RefSeq Acc Id: XM_047421760   ⟹   XP_047277716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,716 - 42,332,460 (+)NCBI
RefSeq Acc Id: XM_047421761   ⟹   XP_047277717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,716 - 42,326,042 (+)NCBI
RefSeq Acc Id: XM_047421762   ⟹   XP_047277718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,558 - 42,332,460 (+)NCBI
RefSeq Acc Id: XM_047421763   ⟹   XP_047277719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,305,264 - 42,330,339 (+)NCBI
RefSeq Acc Id: XM_047421764   ⟹   XP_047277720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,715 - 42,322,123 (+)NCBI
RefSeq Acc Id: XM_054360427   ⟹   XP_054216402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,546,067 - 42,604,947 (+)NCBI
RefSeq Acc Id: XM_054360428   ⟹   XP_054216403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,546,068 - 42,606,501 (+)NCBI
RefSeq Acc Id: XM_054360429   ⟹   XP_054216404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,546,067 - 42,604,948 (+)NCBI
RefSeq Acc Id: XM_054360430   ⟹   XP_054216405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,546,441 - 42,604,947 (+)NCBI
RefSeq Acc Id: XM_054360431   ⟹   XP_054216406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,545,919 - 42,604,948 (+)NCBI
RefSeq Acc Id: XM_054360432   ⟹   XP_054216407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,546,068 - 42,606,501 (+)NCBI
RefSeq Acc Id: XM_054360433   ⟹   XP_054216408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,546,068 - 42,600,394 (+)NCBI
RefSeq Acc Id: XM_054360434   ⟹   XP_054216409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,545,910 - 42,606,501 (+)NCBI
RefSeq Acc Id: XM_054360435   ⟹   XP_054216410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,579,617 - 42,604,948 (+)NCBI
RefSeq Acc Id: XM_054360436   ⟹   XP_054216411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,546,067 - 42,596,475 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001177649 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229707 (Get FASTA)   NCBI Sequence Viewer  
  NP_001547 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542819 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542822 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277713 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277714 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277715 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277716 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277717 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277718 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277719 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277720 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216402 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216403 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216404 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216405 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216406 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216407 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216408 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216409 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216410 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216411 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51860 (Get FASTA)   NCBI Sequence Viewer  
  AAC64675 (Get FASTA)   NCBI Sequence Viewer  
  AAD08997 (Get FASTA)   NCBI Sequence Viewer  
  AAH06231 (Get FASTA)   NCBI Sequence Viewer  
  AAI08695 (Get FASTA)   NCBI Sequence Viewer  
  AAI27664 (Get FASTA)   NCBI Sequence Viewer  
  AAI41979 (Get FASTA)   NCBI Sequence Viewer  
  AAT65965 (Get FASTA)   NCBI Sequence Viewer  
  BAD92327 (Get FASTA)   NCBI Sequence Viewer  
  BAF83641 (Get FASTA)   NCBI Sequence Viewer  
  BAG52329 (Get FASTA)   NCBI Sequence Viewer  
  BAG60507 (Get FASTA)   NCBI Sequence Viewer  
  BAG63942 (Get FASTA)   NCBI Sequence Viewer  
  BAG64369 (Get FASTA)   NCBI Sequence Viewer  
  BAG64556 (Get FASTA)   NCBI Sequence Viewer  
  BAH14789 (Get FASTA)   NCBI Sequence Viewer  
  BDT56432 (Get FASTA)   NCBI Sequence Viewer  
  BDT56433 (Get FASTA)   NCBI Sequence Viewer  
  BDT56434 (Get FASTA)   NCBI Sequence Viewer  
  BDT56435 (Get FASTA)   NCBI Sequence Viewer  
  BDT56436 (Get FASTA)   NCBI Sequence Viewer  
  BDT56437 (Get FASTA)   NCBI Sequence Viewer  
  EAW63222 (Get FASTA)   NCBI Sequence Viewer  
  EAW63223 (Get FASTA)   NCBI Sequence Viewer  
  EAW63224 (Get FASTA)   NCBI Sequence Viewer  
  EAW63225 (Get FASTA)   NCBI Sequence Viewer  
  EAW63226 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000339151.2
  ENSP00000404920.4
  ENSP00000427978.1
  ENSP00000428186
  ENSP00000428186.1
  ENSP00000428799.1
  ENSP00000428892.1
  ENSP00000428922.1
  ENSP00000429239.1
  ENSP00000429319.1
  ENSP00000429357.1
  ENSP00000429924.1
  ENSP00000430114.1
  ENSP00000430557.1
  ENSP00000430684
  ENSP00000430684.1
  ENSP00000430868
  ENSP00000430868.2
  ENSP00000486961.2
  ENSP00000497383.2
  ENSP00000503997.1
GenBank Protein O14920 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001547   ⟸   NM_001556
- Peptide Label: isoform 1
- UniProtKB: B4E0U4 (UniProtKB/Swiss-Prot),   B4DZ30 (UniProtKB/Swiss-Prot),   O75327 (UniProtKB/Swiss-Prot),   O14920 (UniProtKB/Swiss-Prot),   B4DP95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229707   ⟸   NM_001242778
- Peptide Label: isoform 5
- UniProtKB: B4DP95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177649   ⟸   NM_001190720
- Peptide Label: isoform 2
- UniProtKB: A0A499FJS7 (UniProtKB/TrEMBL),   B4DP95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542819   ⟸   XM_011544517
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542822   ⟸   XM_011544520
- Peptide Label: isoform X5
- UniProtKB: B4DP95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429924   ⟸   ENST00000517388
RefSeq Acc Id: ENSP00000497383   ⟸   ENST00000649612
RefSeq Acc Id: ENSP00000429357   ⟸   ENST00000517812
RefSeq Acc Id: ENSP00000428799   ⟸   ENST00000517890
RefSeq Acc Id: ENSP00000427978   ⟸   ENST00000518983
RefSeq Acc Id: ENSP00000430557   ⟸   ENST00000518679
RefSeq Acc Id: ENSP00000429319   ⟸   ENST00000519733
RefSeq Acc Id: ENSP00000404920   ⟸   ENST00000416505
RefSeq Acc Id: ENSP00000429699   ⟸   ENST00000520320
RefSeq Acc Id: ENSP00000430868   ⟸   ENST00000520835
RefSeq Acc Id: ENSP00000430684   ⟸   ENST00000520810
RefSeq Acc Id: ENSP00000428922   ⟸   ENST00000520655
RefSeq Acc Id: ENSP00000428186   ⟸   ENST00000521661
RefSeq Acc Id: ENSP00000428892   ⟸   ENST00000522147
RefSeq Acc Id: ENSP00000486961   ⟸   ENST00000629753
RefSeq Acc Id: ENSP00000430114   ⟸   ENST00000523517
RefSeq Acc Id: ENSP00000429239   ⟸   ENST00000523105
RefSeq Acc Id: ENSP00000339151   ⟸   ENST00000342222
RefSeq Acc Id: ENSP00000503997   ⟸   ENST00000676525
RefSeq Acc Id: XP_047277718   ⟸   XM_047421762
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047277714   ⟸   XM_047421758
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047277720   ⟸   XM_047421764
- Peptide Label: isoform X10
- UniProtKB: G3V105 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277713   ⟸   XM_047421757
- Peptide Label: isoform X2
- UniProtKB: O14920 (UniProtKB/Swiss-Prot),   B4E0U4 (UniProtKB/Swiss-Prot),   B4DZ30 (UniProtKB/Swiss-Prot),   O75327 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277716   ⟸   XM_047421760
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047277717   ⟸   XM_047421761
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277715   ⟸   XM_047421759
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047277719   ⟸   XM_047421763
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054216409   ⟸   XM_054360434
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054216406   ⟸   XM_054360431
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216404   ⟸   XM_054360429
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216402   ⟸   XM_054360427
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216411   ⟸   XM_054360436
- Peptide Label: isoform X10
- UniProtKB: G3V105 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216403   ⟸   XM_054360428
- Peptide Label: isoform X2
- UniProtKB: O14920 (UniProtKB/Swiss-Prot),   B4E0U4 (UniProtKB/Swiss-Prot),   B4DZ30 (UniProtKB/Swiss-Prot),   O75327 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216407   ⟸   XM_054360432
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054216408   ⟸   XM_054360433
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054216405   ⟸   XM_054360430
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216410   ⟸   XM_054360435
- Peptide Label: isoform X9
Protein Domains
I-kappa-kinase-beta NEMO binding   Protein kinase   Ubiquitin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14920-F1-model_v2 AlphaFold O14920 1-756 view protein structure

Promoters
RGD ID:6806655
Promoter ID:HG_KWN:61208
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379708,   NM_001556,   UC003XOV.2,   UC003XOX.1,   UC010LXH.1,   UC010LXI.1,   UC010LXJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36842,247,126 - 42,248,392 (+)MPROMDB
RGD ID:7213201
Promoter ID:EPDNEW_H12346
Type:initiation region
Name:IKBKB_1
Description:inhibitor of nuclear factor kappa B kinase subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,271,318 - 42,271,378EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5960 AgrOrtholog
COSMIC IKBKB COSMIC
Ensembl Genes ENSG00000104365 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342222 ENTREZGENE
  ENST00000342222.6 UniProtKB/TrEMBL
  ENST00000416505 ENTREZGENE
  ENST00000416505.7 UniProtKB/TrEMBL
  ENST00000517388.5 UniProtKB/TrEMBL
  ENST00000517812.5 UniProtKB/TrEMBL
  ENST00000517890.5 UniProtKB/TrEMBL
  ENST00000518679.5 UniProtKB/TrEMBL
  ENST00000518983.1 UniProtKB/TrEMBL
  ENST00000519733.5 UniProtKB/TrEMBL
  ENST00000520655.5 UniProtKB/TrEMBL
  ENST00000520810 ENTREZGENE
  ENST00000520810.6 UniProtKB/Swiss-Prot
  ENST00000520835 ENTREZGENE
  ENST00000520835.7 UniProtKB/TrEMBL
  ENST00000521661 ENTREZGENE
  ENST00000521661.5 UniProtKB/TrEMBL
  ENST00000522147.4 UniProtKB/TrEMBL
  ENST00000523105.5 UniProtKB/TrEMBL
  ENST00000523517.5 UniProtKB/TrEMBL
  ENST00000629753.2 UniProtKB/TrEMBL
  ENST00000649612.3 UniProtKB/TrEMBL
  ENST00000676525.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.250 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104365 GTEx
HGNC ID HGNC:5960 ENTREZGENE
Human Proteome Map IKBKB Human Proteome Map
InterPro IKBKB_SDD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IKBKB_SDD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IKKbetaNEMObind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_dom UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin_dom UniProtKB/Swiss-Prot
KEGG Report hsa:3551 UniProtKB/Swiss-Prot
NCBI Gene 3551 ENTREZGENE
OMIM 603258 OMIM
PANTHER IKB KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IKBKB_SDD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IKKbetaNEMObind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29776 PharmGKB
PROSITE PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN_2 UniProtKB/TrEMBL
SMART IKKbetaNEMObind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A499FJS7 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V4L0_HUMAN UniProtKB/TrEMBL
  A0A7P0NCV2_HUMAN UniProtKB/TrEMBL
  A0A7P0SVL5_HUMAN UniProtKB/TrEMBL
  A1L159_HUMAN UniProtKB/TrEMBL
  B3KRB7_HUMAN UniProtKB/TrEMBL
  B4DP95 ENTREZGENE, UniProtKB/TrEMBL
  B4DZ30 ENTREZGENE
  B4E0U4 ENTREZGENE
  E5RFG5_HUMAN UniProtKB/TrEMBL
  E5RFT3_HUMAN UniProtKB/TrEMBL
  E5RGA0_HUMAN UniProtKB/TrEMBL
  E5RGW5_HUMAN UniProtKB/TrEMBL
  E5RIW0_HUMAN UniProtKB/TrEMBL
  E5RJH2_HUMAN UniProtKB/TrEMBL
  G3V105 ENTREZGENE, UniProtKB/TrEMBL
  IKKB_HUMAN UniProtKB/Swiss-Prot
  J3KNS5_HUMAN UniProtKB/TrEMBL
  O14920 ENTREZGENE
  O75327 ENTREZGENE
  Q32ND9_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DZ30 UniProtKB/Swiss-Prot
  B4E0U4 UniProtKB/Swiss-Prot
  O75327 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-12-27 IKBKB  inhibitor of nuclear factor kappa B kinase subunit beta    inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta  Symbol and/or name change 5135510 APPROVED