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

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Gene: IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta) Homo sapiens
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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. Acts upstream of or within positive regulation of NF-kappaB transcription factor activity. Located in cytosol. Part of IkappaB kinase complex. 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 Orthologs
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)
abexinostat  (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)
antimony(0)  (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  (EXP,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)
scutellarin  (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)
streptozocin  (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)
chromatin remodeling  (IEA)
cortical actin cytoskeleton organization  (IMP)
Fc-epsilon receptor signaling pathway  (TAS)
I-kappaB phosphorylation  (IEA)
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)
obsolete negative regulation of myosin-light-chain-phosphatase activity  (IMP)
peptidyl-serine phosphorylation  (IDA)
phosphorylation  (IEA)
positive regulation of canonical NF-kappaB signal transduction  (IDA,IMP)
positive regulation of cation channel activity  (ISO)
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  (IDA,ISO,TAS)
positive regulation of sodium ion transport  (ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA)
protein localization to plasma membrane  (IMP)
protein maturation  (IDA)
protein phosphorylation  (IDA,IEA,NAS)
regulation of establishment of endothelial barrier  (IMP)
regulation of phosphorylation  (IDA,IEA)
regulation of protein modification process  (IEA)
regulation of toll-like receptor signaling pathway  (TAS)
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,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:12656673   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:32209697   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:32814053   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:37085671   PMID:37100289   PMID:37190063  
PMID:37930783   PMID:38197897   PMID:38775480   PMID:38803224  


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 disorder [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 disorder [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 disorder [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 Inborn genetic diseases [RCV004025844]|Severe combined immunodeficiency due to IKK2 deficiency [RCV000651947]|not provided [RCV004692040] 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 disorder [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 Inborn genetic diseases [RCV004031331]|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 Inborn genetic diseases [RCV004629390]|Severe combined immunodeficiency due to IKK2 deficiency [RCV001476946] Chr8:42290202 [GRCh38]
Chr8:42147720 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser) single nucleotide variant Inborn genetic diseases [RCV004030450]|Severe combined immunodeficiency due to IKK2 deficiency [RCV001062210] Chr8:42316899 [GRCh38]
Chr8:42174417 [GRCh37]
Chr8:8p11.21		 likely benign|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 Inborn genetic diseases [RCV004028037]|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]|not provided [RCV004693337] 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 Inborn genetic diseases [RCV004629347]|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 disorder [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 Inborn genetic diseases [RCV004042824]|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 Inborn genetic diseases [RCV004631754]|Severe combined immunodeficiency due to IKK2 deficiency [RCV002047082]|not provided [RCV004693790] 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 Inborn genetic diseases [RCV004045440]|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 disorder [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 signif