CYBB (cytochrome b-245 beta chain) - Rat Genome Database
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Gene: CYBB (cytochrome b-245 beta chain) Homo sapiens
Analyze
Symbol: CYBB
Name: cytochrome b-245 beta chain
RGD ID: 1350492
Description: Exhibits flavin adenine dinucleotide binding activity; heme binding activity; and protein heterodimerization activity. Contributes to electron transfer activity and superoxide-generating NAD(P)H oxidase activity. Involved in several processes, including innate immune response; respiratory burst; and superoxide anion generation. Localizes to NADPH oxidase complex. Implicated in X-linked chronic granulomatous disease; chronic granulomatous disease; and immunodeficiency 34. Biomarker of renal fibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AMCBX2; CGD; CGD91-phox; cytochrome b(558) subunit beta; cytochrome b-245 beta polypeptide; cytochrome b-245 heavy chain; cytochrome b-245, beta polypeptide; cytochrome b558 subunit beta; GP91-1; GP91-PHOX; GP91PHOX; heme-binding membrane glycoprotein gp91phox; IMD34; NADPH oxidase 2; neutrophil cytochrome b 91 kDa polypeptide; NOX2; p22 phagocyte B-cytochrome; p91-PHOX; superoxide-generating NADPH oxidase heavy chain subunit
Orthologs:
Mus musculus (house mouse) : Cybb (cytochrome b-245, beta polypeptide)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cybb (cytochrome b-245 beta chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : LOC102012042 (cytochrome b-245 heavy chain)
Pan paniscus (bonobo/pygmy chimpanzee) : LOC100982531 (cytochrome b-245 heavy chain)
Canis lupus familiaris (dog) : CYBB (cytochrome b-245 beta chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : LOC101966992 (cytochrome b-245 heavy chain)
Sus scrofa (pig) : GP91-PHOX (NADPH oxidase heavy chain subunit)
Chlorocebus sabaeus (African green monkey) : CYBB (cytochrome b-245 heavy chain)
Heterocephalus glaber (naked mole-rat) : LOC101709509 (cytochrome b-245 heavy chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX37,780,059 - 37,813,461 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX37,780,011 - 37,813,461 (+)EnsemblGRCh38hg38GRCh38
GRCh38X37,780,059 - 37,813,461 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X37,639,266 - 37,672,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,524,264 - 37,557,658 (+)NCBINCBI36hg18NCBI36
Build 34X37,395,536 - 37,428,931NCBI
CeleraX41,776,951 - 41,810,391 (+)NCBI
Cytogenetic MapXp21.1-p11.4NCBI
HuRefX35,383,460 - 35,418,115 (+)NCBIHuRef
CHM1_1X37,670,409 - 37,703,853 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(R)-carnitine  (ISO)
(R)-lipoic acid  (ISO)
1,1-dichloroethene  (ISO)
1-bromopropane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
7-ketocholesterol  (ISO)
acetaldehyde  (EXP)
acetamide  (ISO)
acetylcholine  (ISO)
adenine  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-linolenic acid  (ISO)
amitriptyline  (ISO)
amitrole  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
anagliptin  (EXP)
antirheumatic drug  (EXP)
apocynin  (EXP,ISO)
aripiprazole  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP,ISO)
astaxanthin  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
Besigomsin  (ISO)
bezafibrate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (ISO)
camostat  (ISO)
candesartan  (ISO)
capsaicin  (ISO)
captan  (ISO)
CGP-42112A  (ISO)
chloroprene  (ISO)
cholesterol  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
cobalt atom  (ISO)
cocaine  (ISO)
D-glucose  (EXP,ISO)
daunorubicin  (ISO)
Deoxycorticosterone acetate  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
dibenziodolium  (EXP,ISO)
dibutylstannane  (ISO)
dichlorvos  (ISO)
diclofenac  (ISO)
diminazene diaceturate  (EXP)
dioxygen  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
eckol  (EXP)
edaravone  (ISO)
endosulfan  (ISO)
ethanol  (EXP,ISO)
filipin III  (ISO)
fisetin  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
genistein  (ISO)
gentamycin  (ISO)
geraniol  (EXP,ISO)
ginkgolide B  (ISO)
glucose  (EXP,ISO)
glyburide  (ISO)
GW 501516  (EXP)
hemin  (ISO)
hexadecanoic acid  (EXP,ISO)
homocysteine  (ISO)
hydrochlorothiazide  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroxylamine  (ISO)
icosanoid  (ISO)
iron dextran  (ISO)
ketamine  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
malonaldehyde  (ISO)
maneb  (EXP,ISO)
Manumycin A  (ISO)
medroxyprogesterone acetate  (ISO)
methamphetamine  (ISO)
methyl beta-cyclodextrin  (ISO)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
monocrotaline  (ISO)
morphine  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-acetyl-L-cysteine  (ISO)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodimethylamine  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nebivolol  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
nitroglycerin  (ISO)
ochratoxin A  (ISO)
oxidopamine  (EXP)
ozone  (EXP)
palytoxin  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
PD123319  (ISO)
phenobarbital  (ISO)
phenol  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pirinixic acid  (ISO)
prodigiosin  (ISO)
quercetin  (ISO)
ramipril  (ISO)
reactive oxygen species  (ISO)
resveratrol  (ISO)
rosuvastatin calcium  (ISO)
rotenone  (ISO)
Salidroside  (EXP)
Salvianolic acid A  (ISO)
salvianolic acid B  (ISO)
saquinavir  (ISO)
SB 203580  (ISO)
sildenafil citrate  (ISO)
silibinin  (ISO)
simvastatin  (EXP)
sirolimus  (ISO)
sirtinol  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium cholate  (ISO)
spironolactone  (ISO)
staurosporine  (ISO)
streptozocin  (ISO)
succimer  (EXP)
sulforaphane  (EXP)
sunitinib  (ISO)
superoxide  (EXP,ISO)
tamibarotene  (EXP)
tangeretin  (ISO)
taurine  (ISO)
telmisartan  (ISO)
tetrachloromethane  (ISO)
tetrodotoxin  (ISO)
thiacloprid  (EXP)
thioacetamide  (ISO)
titanium atom  (ISO)
titanium dioxide  (ISO)
torcetrapib  (EXP)
trans-piceid  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
tungsten  (ISO)
valsartan  (EXP)
vanadyl sulfate  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. DeMarco VG, etal., Am J Physiol Heart Circ Physiol. 2008 Jun;294(6):H2659-68. Epub 2008 Apr 18.
2. Djamali A, etal., Am J Transplant. 2012 Aug;12(8):1997-2007. doi: 10.1111/j.1600-6143.2012.04081.x. Epub 2012 May 8.
3. Fukui T, etal., Biochem Biophys Res Commun. 2001 Mar;281(5):1200-6.
4. GOA_HUMAN data from the GO Consortium
5. Hink U, etal., Circ Res. 2001 Feb 2;88(2):E14-22.
6. Hong H, etal., Am J Physiol Heart Circ Physiol. 2006 Nov;291(5):H2210-5. Epub 2006 Jun 9.
7. Kaneda M, etal., Blood. 1999 Mar 15;93(6):2098-104.
8. Kim D, etal., Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14851-6. doi: 10.1073/pnas.1009926107. Epub 2010 Aug 2.
9. Kusaka I, etal., Am J Physiol Heart Circ Physiol. 2004 Jun;286(6):H2442-51.
10. Li JM, etal., Gene Ther. 2010 Oct;17(10):1279-87. doi: 10.1038/gt.2010.69. Epub 2010 May 20.
11. Lim CS and Vaziri ND, Am J Nephrol. 2004 Nov-Dec;24(6):569-75. Epub 2004 Nov 17.
12. Newburger PE, etal., J Clin Invest. 1994 Sep;94(3):1205-11.
13. Nisbet RE, etal., Am J Respir Cell Mol Biol. 2009 May;40(5):601-9. Epub 2008 Oct 23.
14. OMIM Disease Annotation Pipeline
15. Ostrowski RP, etal., Acta Neurochir Suppl. 2006;96:188-93.
16. Pipeline to import SMPDB annotations from SMPDB into RGD
17. Prufer S, etal., Immunobiology. 2014 Feb;219(2):87-96. doi: 10.1016/j.imbio.2013.08.010. Epub 2013 Aug 30.
18. Rabbani H, etal., Eur J Haematol. 1993 Oct;51(4):218-22.
19. Rajakariar R, etal., J Immunol. 2009 Mar 1;182(5):3262-9. doi: 10.4049/jimmunol.0801739.
20. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. RGD automated import pipeline for gene-chemical interactions
22. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Sadat MA, etal., Hum Gene Ther. 2003 May 1;14(7):651-66.
24. Shin HK, etal., J Cereb Blood Flow Metab. 2002 Jul;22(7):869-77.
25. Vaziri ND, etal., Kidney Int. 2003 Jan;63(1):186-94.
26. Vidal A, etal., Am J Physiol Heart Circ Physiol. 2006 Jan;290(1):H286-94.
27. Weening RS, etal., Clin Exp Immunol. 2000 Dec;122(3):410-7.
Additional References at PubMed
PMID:1710153   PMID:1905983   PMID:2243141   PMID:2425263   PMID:2556453   PMID:3305576   PMID:3600768   PMID:3600769   PMID:7719350   PMID:7927345   PMID:7938008   PMID:8101486  
PMID:8182143   PMID:8634708   PMID:9083043   PMID:9083071   PMID:9111587   PMID:9585602   PMID:9667376   PMID:9774399   PMID:9790760   PMID:9856476   PMID:9888386   PMID:10578014  
PMID:10914676   PMID:10974555   PMID:11248021   PMID:11258927   PMID:11462241   PMID:11511930   PMID:11893732   PMID:11917128   PMID:11926990   PMID:11997083   PMID:12042318   PMID:12139950  
PMID:12477932   PMID:12482831   PMID:12589359   PMID:12716910   PMID:12768347   PMID:12772776   PMID:14605447   PMID:15102091   PMID:15181570   PMID:15233623   PMID:15249506   PMID:15256399  
PMID:15260500   PMID:15308575   PMID:15322037   PMID:15377283   PMID:15454837   PMID:15479231   PMID:15489334   PMID:15569826   PMID:15681849   PMID:15684431   PMID:15706079   PMID:15777347  
PMID:15883163   PMID:16179592   PMID:16260066   PMID:16344560   PMID:16354686   PMID:16516412   PMID:16608528   PMID:16839887   PMID:16895900   PMID:16987004   PMID:17015440   PMID:17060362  
PMID:17089090   PMID:17363703   PMID:17848987   PMID:17940286   PMID:18089853   PMID:18202172   PMID:18278805   PMID:18321306   PMID:18397177   PMID:18402298   PMID:18402299   PMID:18453612  
PMID:18467643   PMID:18473264   PMID:18523147   PMID:18546332   PMID:18676680   PMID:18682599   PMID:18774749   PMID:18783311   PMID:18854154   PMID:19116138   PMID:19118104   PMID:19170196  
PMID:19217269   PMID:19265148   PMID:19307214   PMID:19337723   PMID:19390057   PMID:19401454   PMID:19410294   PMID:19536508   PMID:19625176   PMID:19641494   PMID:19692168   PMID:19708127  
PMID:19717732   PMID:19801678   PMID:19805647   PMID:19839755   PMID:19843513   PMID:19895673   PMID:19929442   PMID:19965781   PMID:19995913   PMID:20036216   PMID:20043988   PMID:20056178  
PMID:20080418   PMID:20219570   PMID:20346360   PMID:20375611   PMID:20407811   PMID:20495074   PMID:20630999   PMID:20708598   PMID:20724480   PMID:20729109   PMID:20803017   PMID:20813210  
PMID:20832062   PMID:20849923   PMID:20861446   PMID:21029719   PMID:21042717   PMID:21071703   PMID:21124855   PMID:21172429   PMID:21278346   PMID:21278736   PMID:21444627   PMID:21524749  
PMID:21604087   PMID:21636808   PMID:21659519   PMID:21683690   PMID:21742780   PMID:21796650   PMID:21873635   PMID:21901141   PMID:21956105   PMID:22038300   PMID:22125116   PMID:22191478  
PMID:22272860   PMID:22277655   PMID:22287576   PMID:22336250   PMID:22354003   PMID:22382877   PMID:22383943   PMID:22399808   PMID:22493499   PMID:22528837   PMID:22550344   PMID:22562447  
PMID:22690528   PMID:22727869   PMID:22746273   PMID:22808130   PMID:22865553   PMID:22869144   PMID:22876374   PMID:22933115   PMID:22938164   PMID:23095975   PMID:23118986   PMID:23216310  
PMID:23237808   PMID:23288160   PMID:23333803   PMID:23349115   PMID:23476056   PMID:23503476   PMID:23898208   PMID:23919599   PMID:23955717   PMID:24053613   PMID:24081483   PMID:24113184  
PMID:24328853   PMID:24374334   PMID:24376210   PMID:24376854   PMID:24393844   PMID:24409324   PMID:24478191   PMID:24524998   PMID:24554007   PMID:24596025   PMID:24608713   PMID:24681145  
PMID:24758604   PMID:24931457   PMID:24943880   PMID:24965120   PMID:24967690   PMID:24973227   PMID:24978055   PMID:24981855   PMID:24999735   PMID:25056956   PMID:25066192   PMID:25079350  
PMID:25116588   PMID:25146963   PMID:25155522   PMID:25178511   PMID:25238217   PMID:25239440   PMID:25252997   PMID:25323785   PMID:25326583   PMID:25392853   PMID:25460197   PMID:25502554  
PMID:25568324   PMID:25589411   PMID:25598081   PMID:25707572   PMID:25730848   PMID:25752509   PMID:25805361   PMID:25889655   PMID:25929165   PMID:25996657   PMID:26034362   PMID:26040511  
PMID:26076008   PMID:26079697   PMID:26116564   PMID:26160850   PMID:26177467   PMID:26317224   PMID:26320741   PMID:26333777   PMID:26354767   PMID:26354779   PMID:26464403   PMID:26498406  
PMID:26871637   PMID:26907999   PMID:26960433   PMID:27048452   PMID:27088800   PMID:27088803   PMID:27181082   PMID:27187235   PMID:27212019   PMID:27221536   PMID:27253713   PMID:27488058  
PMID:27624556   PMID:27666509   PMID:27765769   PMID:27795355   PMID:27799347   PMID:27917630   PMID:27938946   PMID:28070636   PMID:28077855   PMID:28128227   PMID:28202687   PMID:28260074  
PMID:28330417   PMID:28351775   PMID:28351984   PMID:28424170   PMID:28478460   PMID:28499252   PMID:28499911   PMID:28536313   PMID:28600985   PMID:28630469   PMID:28650848   PMID:28688762  
PMID:28725637   PMID:28733324   PMID:28809856   PMID:28811143   PMID:28840773   PMID:28855537   PMID:28886419   PMID:28916473   PMID:28990416   PMID:29061308   PMID:29103982   PMID:29132304  
PMID:29388853   PMID:29449441   PMID:29508720   PMID:29571125   PMID:29573449   PMID:29664709   PMID:29702544   PMID:29858119   PMID:30019598   PMID:30125808   PMID:30630561   PMID:30633606  
PMID:30665935   PMID:30850160   PMID:31126732   PMID:31250672   PMID:31316302   PMID:31329158   PMID:31646444   PMID:32005915   PMID:32019675   PMID:32296183  


Genomics

Comparative Map Data
CYBB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX37,780,059 - 37,813,461 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX37,780,011 - 37,813,461 (+)EnsemblGRCh38hg38GRCh38
GRCh38X37,780,059 - 37,813,461 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X37,639,266 - 37,672,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,524,264 - 37,557,658 (+)NCBINCBI36hg18NCBI36
Build 34X37,395,536 - 37,428,931NCBI
CeleraX41,776,951 - 41,810,391 (+)NCBI
Cytogenetic MapXp21.1-p11.4NCBI
HuRefX35,383,460 - 35,418,115 (+)NCBIHuRef
CHM1_1X37,670,409 - 37,703,853 (+)NCBICHM1_1
Cybb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X9,301,493 - 9,354,005 (-)NCBI
GRCm38X9,435,252 - 9,487,766 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX9,435,252 - 9,487,771 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X9,012,378 - 9,046,450 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X8,593,665 - 8,626,226 (-)NCBImm8
CeleraX7,154,874 - 7,188,991 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
Cybb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0X14,578,330 - 14,610,049 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX14,578,264 - 14,612,547 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X15,359,405 - 15,391,317 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X25,514,572 - 25,547,181 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X25,568,040 - 25,600,650 (-)NCBI
CeleraX14,033,486 - 14,065,403 (+)NCBICelera
Cytogenetic MapXq12NCBI
LOC102012042
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955587781,388 - 819,912 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955587781,533 - 818,149 (+)NCBIChiLan1.0ChiLan1.0
LOC100982531
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X37,939,744 - 37,976,116 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX37,939,704 - 37,973,183 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X30,230,394 - 30,267,379 (+)NCBIMhudiblu_PPA_v0panPan3
CYBB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX32,533,320 - 32,568,217 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X32,533,365 - 32,568,149 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
LOC101966992
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365024,631,750 - 4,676,686 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GP91-PHOX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX33,642,015 - 33,680,580 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X33,654,656 - 33,678,346 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X37,355,082 - 37,392,480 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CYBB
(Chlorocebus sabaeus - African green monkey)
No map positions available.
LOC101709509
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476217,759,625 - 17,793,434 (-)NCBI

Position Markers
DXS1394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,648,041 - 37,648,209UniSTSGRCh37
Build 36X37,532,985 - 37,533,153RGDNCBI36
CeleraX41,785,722 - 41,785,890RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,392,287 - 35,392,455UniSTS
GDB:211078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,655,117 - 37,655,278UniSTSGRCh37
Build 36X37,540,057 - 37,540,218RGDNCBI36
CeleraX41,792,796 - 41,792,955RGD
Cytogenetic MapXp21.1UniSTS
SHGC-148585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,654,453 - 37,654,765UniSTSGRCh37
Build 36X37,539,393 - 37,539,705RGDNCBI36
CeleraX41,792,132 - 41,792,444RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,398,900 - 35,399,212UniSTS
TNG Radiation Hybrid MapX9876.0UniSTS
SHGC-132083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,670,243 - 37,670,564UniSTSGRCh37
Build 36X37,555,187 - 37,555,508RGDNCBI36
CeleraX41,807,920 - 41,808,241RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,415,054 - 35,415,375UniSTS
TNG Radiation Hybrid MapX9869.0UniSTS
DXS7487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,671,566 - 37,671,903UniSTSGRCh37
Build 36X37,556,510 - 37,556,847RGDNCBI36
CeleraX41,809,243 - 41,809,580RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,416,377 - 35,416,714UniSTS
GeneMap99-GB4 RH MapX112.8UniSTS
Whitehead-RH MapX33.3UniSTS
Whitehead-YAC Contig MapX UniSTS
GeneMap99-G3 RH MapX791.0UniSTS
AF020154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,662,793 - 37,663,021UniSTSGRCh37
Build 36X37,547,737 - 37,547,965RGDNCBI36
CeleraX41,800,470 - 41,800,698RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,407,604 - 35,407,832UniSTS
G10525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,670,864 - 37,671,104UniSTSGRCh37
Build 36X37,555,808 - 37,556,048RGDNCBI36
CeleraX41,808,541 - 41,808,781RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,415,675 - 35,415,915UniSTS
RH35737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,672,412 - 37,672,661UniSTSGRCh37
Build 36X37,557,356 - 37,557,605RGDNCBI36
CeleraX41,810,089 - 41,810,338RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,417,223 - 35,418,062UniSTS
GeneMap99-GB4 RH MapX111.42UniSTS
NCBI RH MapX43.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1280
Count of miRNA genes:719
Interacting mature miRNAs:822
Transcripts:ENST00000378588, ENST00000492288, ENST00000536160, ENST00000545017
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1 2 1 2
Medium 744 1322 468 183 1737 138 1054 235 742 165 252 781 46 901 516 2
Low 1649 1592 1194 395 148 279 2966 1830 2769 197 1071 687 116 303 2241
Below cutoff 25 65 47 36 31 39 253 106 158 39 93 91 5 31

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB013904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA995835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ533484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU248714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M66390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378588   ⟹   ENSP00000367851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX37,780,059 - 37,813,461 (+)Ensembl
RefSeq Acc Id: ENST00000492288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX37,798,220 - 37,804,079 (+)Ensembl
RefSeq Acc Id: NM_000397   ⟹   NP_000388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,780,059 - 37,813,461 (+)NCBI
GRCh37X37,639,266 - 37,672,718 (+)NCBI
Build 36X37,524,264 - 37,557,658 (+)NCBI Archive
HuRefX35,383,460 - 35,418,115 (+)ENTREZGENE
CHM1_1X37,670,409 - 37,703,853 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000388   ⟸   NM_000397
- UniProtKB: P04839 (UniProtKB/Swiss-Prot),   A0A0S2Z3S6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000367851   ⟸   ENST00000378588
Promoters
RGD ID:6808609
Promoter ID:HG_KWN:66411
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080881
Position:
Human AssemblyChrPosition (strand)Source
Build 36X37,524,071 - 37,524,571 (+)MPROMDB
RGD ID:6813784
Promoter ID:HG_ACW:83676
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CYBB.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X37,525,711 - 37,526,211 (+)MPROMDB
RGD ID:6808610
Promoter ID:HG_KWN:66412
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000080882
Position:
Human AssemblyChrPosition (strand)Source
Build 36X37,541,301 - 37,541,801 (+)MPROMDB
RGD ID:13605024
Promoter ID:EPDNEW_H28696
Type:initiation region
Name:CYBB_1
Description:cytochrome b-245 beta chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28697  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,780,059 - 37,780,119EPDNEW
RGD ID:13605026
Promoter ID:EPDNEW_H28697
Type:initiation region
Name:CYBB_2
Description:cytochrome b-245 beta chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28696  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,813,185 - 37,813,245EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000397.3(CYBB):c.1140dup (p.Lys381fs) duplication Chronic granulomatous disease, X-linked [RCV000029623] ChrX:37804117..37804118 [GRCh38]
ChrX:37663370..37663371 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.3(CYBB):c.1314+19C>T single nucleotide variant Chronic granulomatous disease, X-linked [RCV000029624]|not specified [RCV000246530] ChrX:37805187 [GRCh38]
ChrX:37664440 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.3(CYBB):c.1601T>A (p.Val534Asp) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000029626]|not provided [RCV000059247] ChrX:37810805 [GRCh38]
ChrX:37670058 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance|not provided
NM_000397.3(CYBB):c.692A>C (p.Gln231Pro) single nucleotide variant Atypical mycobacteriosis, familial, X-linked 2 [RCV000022861]|Chronic granulomatous disease [RCV000208611]|not provided [RCV000059275] ChrX:37798972 [GRCh38]
ChrX:37658225 [GRCh37]
ChrX:Xp21.1
pathogenic|not provided
NM_000397.3(CYBB):c.1002G>A (p.Lys334=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000560547] ChrX:37803981 [GRCh38]
ChrX:37663234 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.3(CYBB):c.1244C>A (p.Pro415His) single nucleotide variant Granulomatous disease, chronic, X-linked, variant [RCV000011667]|not provided [RCV000059237] ChrX:37805098 [GRCh38]
ChrX:37664351 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000397.3(CYBB):c.1166G>C (p.Gly389Ala) single nucleotide variant Granulomatous disease, chronic, X-linked, variant [RCV000011668]|not provided [RCV000059232] ChrX:37805020 [GRCh38]
ChrX:37664273 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000397.3(CYBB):c.911C>G (p.Pro304Arg) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011674]|not provided [RCV000059280] ChrX:37803890 [GRCh38]
ChrX:37663143 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
CYBB, EX12DEL deletion Chronic granulomatous disease, X-linked [RCV000011675] ChrX:Xp21.1 pathogenic
NM_000397.4(CYBB):c.252+5G>A single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011677] ChrX:37783605 [GRCh38]
ChrX:37642858 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.1499A>G (p.Asp500Gly) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011678]|not provided [RCV000059242] ChrX:37809604 [GRCh38]
ChrX:37668857 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
CYBB, IN5, L1 INS insertion Chronic granulomatous disease, X-linked [RCV000011681] ChrX:Xp21.1 pathogenic
CYBB, 252G-A single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011682] ChrX:Xp21.1 pathogenic
NM_000397.3(CYBB):c.907C>A (p.His303Asn) single nucleotide variant Granulomatous disease, chronic, X-linked, variant [RCV000011683]|not provided [RCV000059279] ChrX:37803886 [GRCh38]
ChrX:37663139 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
CYBB, IVS5, G-T, +978 single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011684] ChrX:Xp21.1 pathogenic
CYBB, EX4, L1 INS insertion Chronic granulomatous disease, X-linked [RCV000011685] ChrX:Xp21.1 pathogenic
NM_000397.3(CYBB):c.45+6T>C single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011686] ChrX:37780128 [GRCh38]
ChrX:37639381 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.532A>C (p.Thr178Pro) single nucleotide variant Atypical mycobacteriosis, familial, X-linked 2 [RCV000022862]|Chronic granulomatous disease [RCV000208608]|not provided [RCV000059260] ChrX:37795999 [GRCh38]
ChrX:37655252 [GRCh37]
ChrX:Xp21.1
pathogenic|not provided
NM_000397.3(CYBB):c.625C>T (p.His209Tyr) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011669]|not provided [RCV000059265] ChrX:37796092 [GRCh38]
ChrX:37655345 [GRCh37]
ChrX:Xp21.1
pathogenic|not provided
NM_000397.3(CYBB):c.217C>T (p.Arg73Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011670]|not provided [RCV000254770] ChrX:37783565 [GRCh38]
ChrX:37642818 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.731G>C (p.Cys244Ser) single nucleotide variant Granulomatous disease, chronic, X-linked, variant [RCV000011671]|not provided [RCV000059278] ChrX:37799011 [GRCh38]
ChrX:37658264 [GRCh37]
ChrX:Xp21.1
pathogenic|not provided
NM_000397.3(CYBB):c.466G>A (p.Ala156Thr) single nucleotide variant Granulomatous disease, chronic, X-linked, variant [RCV000011672]|not provided [RCV000059259] ChrX:37793793 [GRCh38]
ChrX:37653046 [GRCh37]
ChrX:Xp21.1
pathogenic|not provided
NM_000397.3(CYBB):c.302A>G (p.His101Arg) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001192988]|Granulomatous disease, chronic, X-linked, variant [RCV000011673]|not provided [RCV000059257] ChrX:37792024 [GRCh38]
ChrX:37651277 [GRCh37]
ChrX:Xp21.1
pathogenic|not provided
NM_000397.3(CYBB):c.676C>T (p.Arg226Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011676]|not provided [RCV000523721] ChrX:37798956 [GRCh38]
ChrX:37658209 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.301C>T (p.His101Tyr) single nucleotide variant Granulomatous disease, chronic, X-linked, variant [RCV000011679]|not provided [RCV000059256] ChrX:37792023 [GRCh38]
ChrX:37651276 [GRCh37]
ChrX:Xp21.1
pathogenic|not provided
NM_000397.3(CYBB):c.252G>A (p.Ala84=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000011680]|not provided [RCV000482302] ChrX:37783600 [GRCh38]
ChrX:37642853 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.90_92delinsGGT (p.Tyr30_Arg31delinsTer) indel Chronic granulomatous disease, X-linked [RCV000011687] ChrX:37782132..37782134 [GRCh38]
ChrX:37641385..37641387 [GRCh37]
ChrX:Xp21.1
pathogenic|other
NM_000397.3(CYBB):c.15del (p.Ala5_Val6insTer) deletion Chronic granulomatous disease, X-linked [RCV000029625] ChrX:37780092 [GRCh38]
ChrX:37639345 [GRCh37]
ChrX:Xp21.1
likely pathogenic
NM_000397.3(CYBB):c.338-13C>T single nucleotide variant Chronic granulomatous disease, X-linked [RCV000029627] ChrX:37793652 [GRCh38]
ChrX:37652905 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.3(CYBB):c.389G>C (p.Arg130Pro) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000029628] ChrX:37793716 [GRCh38]
ChrX:37652969 [GRCh37]
ChrX:Xp21.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_000397.3(CYBB):c.46-7T>C single nucleotide variant Chronic granulomatous disease, X-linked [RCV000964092]|not specified [RCV000029629] ChrX:37782081 [GRCh38]
ChrX:37641334 [GRCh37]
ChrX:Xp21.1
benign|likely benign|uncertain significance
NM_000397.3(CYBB):c.607G>T (p.Glu203Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000029630] ChrX:37796074 [GRCh38]
ChrX:37655327 [GRCh37]
ChrX:Xp21.1
pathogenic|likely pathogenic
NM_000397.3(CYBB):c.654C>A (p.Gly218=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000029631]|not specified [RCV000596479] ChrX:37796121 [GRCh38]
ChrX:37655374 [GRCh37]
ChrX:Xp21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000397.3(CYBB):c.66C>T (p.Asn22=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000029632] ChrX:37782108 [GRCh38]
ChrX:37641361 [GRCh37]
ChrX:Xp21.1
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:31665506-37921988)x0 copy number loss See cases [RCV000053080] ChrX:31665506..37921988 [GRCh38]
ChrX:31683623..37781241 [GRCh37]
ChrX:31593544..37666185 [NCBI36]
ChrX:Xp21.1-11.4
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_000397.3(CYBB):c.998C>T (p.Ser333Phe) single nucleotide variant Malignant melanoma [RCV000073186] ChrX:37803977 [GRCh38]
ChrX:37663230 [GRCh37]
ChrX:37548174 [NCBI36]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1012C>T (p.His338Tyr) single nucleotide variant not provided [RCV000059225] ChrX:37803991 [GRCh38]
ChrX:37663244 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1016C>A (p.Pro339His) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001207941]|not provided [RCV000059226] ChrX:37803995 [GRCh38]
ChrX:37663248 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000397.3(CYBB):c.1025T>A (p.Leu342Gln) single nucleotide variant not provided [RCV000059227] ChrX:37804004 [GRCh38]
ChrX:37663257 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1031C>T (p.Ser344Phe) single nucleotide variant not provided [RCV000059228] ChrX:37804010 [GRCh38]
ChrX:37663263 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1067G>C (p.Arg356Pro) single nucleotide variant not provided [RCV000059229] ChrX:37804046 [GRCh38]
ChrX:37663299 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1090G>C (p.Gly364Arg) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000990768]|not provided [RCV000059230]|not specified [RCV000595175] ChrX:37804069 [GRCh38]
ChrX:37663322 [GRCh37]
ChrX:Xp11.4
benign|likely benign|not provided
NM_000397.3(CYBB):c.1166G>A (p.Gly389Glu) single nucleotide variant not provided [RCV000059231] ChrX:37805020 [GRCh38]
ChrX:37664273 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1214T>G (p.Met405Arg) single nucleotide variant not provided [RCV000059233] ChrX:37805068 [GRCh38]
ChrX:37664321 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.121T>G (p.Tyr41Asp) single nucleotide variant not provided [RCV000059234] ChrX:37782163 [GRCh38]
ChrX:37641416 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.1222G>A (p.Gly408Arg) single nucleotide variant not provided [RCV000059235] ChrX:37805076 [GRCh38]
ChrX:37664329 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1223G>A (p.Gly408Glu) single nucleotide variant not provided [RCV000059236] ChrX:37805077 [GRCh38]
ChrX:37664330 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000397.3(CYBB):c.1244C>T (p.Pro415Leu) single nucleotide variant not provided [RCV000059238] ChrX:37805098 [GRCh38]
ChrX:37664351 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1259T>C (p.Leu420Pro) single nucleotide variant not provided [RCV000059239] ChrX:37805113 [GRCh38]
ChrX:37664366 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1264T>C (p.Ser422Pro) single nucleotide variant not provided [RCV000059240] ChrX:37805118 [GRCh38]
ChrX:37664371 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1357T>C (p.Trp453Arg) single nucleotide variant not provided [RCV000059241] ChrX:37806429 [GRCh38]
ChrX:37665682 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1514T>G (p.Leu505Arg) single nucleotide variant not provided [RCV000059243] ChrX:37809619 [GRCh38]
ChrX:37668872 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1546T>C (p.Trp516Arg) single nucleotide variant not provided [RCV000059244] ChrX:37809651 [GRCh38]
ChrX:37668904 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1548G>T (p.Trp516Cys) single nucleotide variant not provided [RCV000059245] ChrX:37809653 [GRCh38]
ChrX:37668906 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.1551T>A (p.Asp517Glu) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001083190]|not provided [RCV000059246]|not specified [RCV000781320] ChrX:37809656 [GRCh38]
ChrX:37668909 [GRCh37]
ChrX:Xp11.4
benign|likely benign|not provided
NM_000397.3(CYBB):c.1609T>C (p.Cys537Arg) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000585928]|not provided [RCV000059248] ChrX:37810813 [GRCh38]
ChrX:37670066 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000397.3(CYBB):c.161G>T (p.Arg54Met) single nucleotide variant not provided [RCV000059249] ChrX:37783509 [GRCh38]
ChrX:37642762 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.162G>C (p.Arg54Ser) single nucleotide variant not provided [RCV000059250] ChrX:37783510 [GRCh38]
ChrX:37642763 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.1637T>C (p.Leu546Pro) single nucleotide variant not provided [RCV000059251] ChrX:37810841 [GRCh38]
ChrX:37670094 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.164C>A (p.Ala55Asp) single nucleotide variant not provided [RCV000059252] ChrX:37783512 [GRCh38]
ChrX:37642765 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.170C>A (p.Ala57Glu) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000815331]|not provided [RCV000059253] ChrX:37783518 [GRCh38]
ChrX:37642771 [GRCh37]
ChrX:Xp21.1
pathogenic|uncertain significance|not provided
NM_000397.3(CYBB):c.175T>C (p.Cys59Arg) single nucleotide variant not provided [RCV000059254] ChrX:37783523 [GRCh38]
ChrX:37642776 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.177C>G (p.Cys59Trp) single nucleotide variant not provided [RCV000059255] ChrX:37783525 [GRCh38]
ChrX:37642778 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.356A>G (p.His119Arg) single nucleotide variant not provided [RCV000059258] ChrX:37793683 [GRCh38]
ChrX:37652936 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.535G>A (p.Gly179Arg) single nucleotide variant not provided [RCV000059261] ChrX:37796002 [GRCh38]
ChrX:37655255 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.578C>T (p.Ser193Phe) single nucleotide variant not provided [RCV000059262] ChrX:37796045 [GRCh38]
ChrX:37655298 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.58G>C (p.Gly20Arg) single nucleotide variant not provided [RCV000059263] ChrX:37782100 [GRCh38]
ChrX:37641353 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.613T>A (p.Phe205Ile) single nucleotide variant not provided [RCV000059264] ChrX:37796080 [GRCh38]
ChrX:37655333 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.626A>G (p.His209Arg) single nucleotide variant not provided [RCV000059266] ChrX:37796093 [GRCh38]
ChrX:37655346 [GRCh37]
ChrX:Xp21.1
likely pathogenic|not provided
NM_000397.3(CYBB):c.627T>A (p.His209Gln) single nucleotide variant not provided [RCV000059267] ChrX:37796094 [GRCh38]
ChrX:37655347 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.664C>A (p.His222Asn) single nucleotide variant not provided [RCV000059268] ChrX:37796131 [GRCh38]
ChrX:37655384 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.664C>T (p.His222Tyr) single nucleotide variant not provided [RCV000059269] ChrX:37796131 [GRCh38]
ChrX:37655384 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.665A>G (p.His222Arg) single nucleotide variant not provided [RCV000059270] ChrX:37796132 [GRCh38]
ChrX:37655385 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.667G>T (p.Gly223Ter) single nucleotide variant not provided [RCV000059271] ChrX:37796134 [GRCh38]
ChrX:37655387 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.668G>T (p.Gly223Val) single nucleotide variant not provided [RCV000059272] ChrX:37796135 [GRCh38]
ChrX:37655388 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.671C>G (p.Ala224Gly) single nucleotide variant not provided [RCV000059273] ChrX:37796138 [GRCh38]
ChrX:37655391 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.674A>T (p.Glu225Val) single nucleotide variant not provided [RCV000059274] ChrX:37796141 [GRCh38]
ChrX:37655394 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.730T>C (p.Cys244Arg) single nucleotide variant not provided [RCV000059276] ChrX:37799010 [GRCh38]
ChrX:37658263 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.731G>A (p.Cys244Tyr) single nucleotide variant not provided [RCV000059277] ChrX:37799011 [GRCh38]
ChrX:37658264 [GRCh37]
ChrX:Xp21.1
not provided
NM_000397.3(CYBB):c.919A>C (p.Thr307Pro) single nucleotide variant not provided [RCV000059281] ChrX:37803898 [GRCh38]
ChrX:37663151 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.925G>A (p.Glu309Lys) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001208587]|not provided [RCV000059282] ChrX:37803904 [GRCh38]
ChrX:37663157 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_000397.3(CYBB):c.965G>A (p.Gly322Glu) single nucleotide variant not provided [RCV000059283] ChrX:37803944 [GRCh38]
ChrX:37663197 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.973A>T (p.Ile325Phe) single nucleotide variant not provided [RCV000059284] ChrX:37803952 [GRCh38]
ChrX:37663205 [GRCh37]
ChrX:Xp11.4
not provided
NM_000397.3(CYBB):c.997T>C (p.Ser333Pro) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000640722]|not provided [RCV000059285] ChrX:37803976 [GRCh38]
ChrX:37663229 [GRCh37]
ChrX:Xp11.4
uncertain significance|not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000397.3(CYBB):c.34A>C (p.Ile12Leu) single nucleotide variant not specified [RCV000171434] ChrX:37780111 [GRCh38]
ChrX:37639364 [GRCh37]
ChrX:Xp21.1
likely pathogenic|likely benign
NM_000397.4(CYBB):c.66C>A (p.Asn22Lys) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000190516] ChrX:37782108 [GRCh38]
ChrX:37641361 [GRCh37]
ChrX:Xp21.1
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-11.4(chrX:37723259-38263335)x2 copy number gain See cases [RCV000136935] ChrX:37723259..38263335 [GRCh38]
ChrX:37669767..38122588 [GRCh37]
ChrX:37467451..38007532 [NCBI36]
ChrX:Xp21.1-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:37564515-37871920)x2 copy number gain See cases [RCV000137210] ChrX:37564515..37871920 [GRCh38]
ChrX:37308687..37616117 [NCBI36]
ChrX:Xp21.1-11.4
benign
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3 copy number gain See cases [RCV000138078] ChrX:28234352..37850186 [GRCh38]
ChrX:28252469..37709439 [GRCh37]
ChrX:28162390..37594383 [NCBI36]
ChrX:Xp21.3-11.4
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3 copy number gain See cases [RCV000143685] ChrX:28218244..37855706 [GRCh38]
ChrX:28236361..37714959 [GRCh37]
ChrX:28146282..37599903 [NCBI36]
ChrX:Xp21.3-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000397.3(CYBB):c.469C>T (p.Arg157Ter) single nucleotide variant not provided [RCV000254804] ChrX:37793796 [GRCh38]
ChrX:37653049 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.907C>T (p.His303Tyr) single nucleotide variant not provided [RCV000254834] ChrX:37803886 [GRCh38]
ChrX:37663139 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.337+1G>T single nucleotide variant not provided [RCV000255150] ChrX:37792060 [GRCh38]
ChrX:37651313 [GRCh37]
ChrX:Xp21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000397.3(CYBB):c.484-2A>T single nucleotide variant not provided [RCV000255363] ChrX:37795949 [GRCh38]
ChrX:37655202 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.1449G>A (p.Trp483Ter) single nucleotide variant not provided [RCV000255398] ChrX:37806521 [GRCh38]
ChrX:37665774 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.599C>T (p.Ser200Phe) single nucleotide variant not provided [RCV000518911] ChrX:37796066 [GRCh38]
ChrX:37655319 [GRCh37]
ChrX:Xp21.1
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000397.3(CYBB):c.448G>T (p.Glu150Ter) single nucleotide variant not provided [RCV000255717] ChrX:37793775 [GRCh38]
ChrX:37653028 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.1498G>C (p.Asp500His) single nucleotide variant not provided [RCV000255866] ChrX:37809603 [GRCh38]
ChrX:37668856 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.868C>T (p.Arg290Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001054149]|not provided [RCV000255940] ChrX:37801319 [GRCh38]
ChrX:37660572 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.210dup (p.Val71fs) duplication not provided [RCV000522573] ChrX:37783557..37783558 [GRCh38]
ChrX:37642810..37642811 [GRCh37]
ChrX:Xp21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000397.3(CYBB):c.271C>T (p.Arg91Ter) single nucleotide variant not provided [RCV000303335] ChrX:37791993 [GRCh38]
ChrX:37651246 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.1272G>A (p.Trp424Ter) single nucleotide variant not provided [RCV000306996] ChrX:37805126 [GRCh38]
ChrX:37664379 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.1573del (p.Ser525fs) deletion not provided [RCV000313776] ChrX:37809677 [GRCh38]
ChrX:37668930 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.565_568delATTA microsatellite not provided [RCV000317739] ChrX:37796028..37796031 [GRCh38]
ChrX:37655281..37655284 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.388del (p.Arg130fs) deletion not provided [RCV000341883] ChrX:37793713 [GRCh38]
ChrX:37652966 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.23_26dup (p.Leu10fs) duplication not provided [RCV000399429] ChrX:37780098..37780099 [GRCh38]
ChrX:37639351..37639352 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.742dup (p.Ile248fs) duplication Chronic granulomatous disease, X-linked [RCV000690581]|not provided [RCV000400140] ChrX:37799016..37799017 [GRCh38]
ChrX:37658269..37658270 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.1249G>A (p.Ala417Thr) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001053638]|not provided [RCV000487947] ChrX:37805103 [GRCh38]
ChrX:37664356 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.3(CYBB):c.145G>A (p.Ala49Thr) single nucleotide variant not specified [RCV000523750] ChrX:37783493 [GRCh38]
ChrX:37642746 [GRCh37]
ChrX:Xp21.1
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000397.3(CYBB):c.1702G>A (p.Glu568Lys) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000640721] ChrX:37810906 [GRCh38]
ChrX:37670159 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.781C>T (p.Gln261Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000640724] ChrX:37799061 [GRCh38]
ChrX:37658314 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.969A>G (p.Gln323=) single nucleotide variant Atypical mycobacteriosis, familial, X-linked 2 [RCV000767950]|Chronic granulomatous disease, X-linked [RCV000929976] ChrX:37803948 [GRCh38]
ChrX:37663201 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_000397.3(CYBB):c.1151+13T>C single nucleotide variant not provided [RCV000587479] ChrX:37804143 [GRCh38]
ChrX:37663396 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.3(CYBB):c.80_83del (p.Val27fs) deletion Chronic granulomatous disease, X-linked [RCV000589300] ChrX:37782120..37782123 [GRCh38]
ChrX:37641373..37641376 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.1462-56_1586+68dup249 duplication not provided [RCV000598796] ChrX:37809509..37809510 [GRCh38]
ChrX:37668762..37668763 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.960del (p.Val321fs) deletion not provided [RCV000599175] ChrX:37803938 [GRCh38]
ChrX:37663191 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.1165G>A (p.Gly389Arg) single nucleotide variant not provided [RCV000589173] ChrX:37805019 [GRCh38]
ChrX:37664272 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_37780009)_(37783620_?)del deletion Chronic granulomatous disease, X-linked [RCV000817933] ChrX:37780009..37783620 [GRCh38]
ChrX:37639262..37642873 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.1315-1G>A single nucleotide variant Chronic granulomatous disease, X-linked [RCV000640720] ChrX:37806386 [GRCh38]
ChrX:37665639 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000397.4(CYBB):c.674+4_674+7del microsatellite Chronic granulomatous disease, X-linked [RCV001192987]|not provided [RCV000412938] ChrX:37796139..37796142 [GRCh38]
ChrX:37655392..37655395 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.898-2A>C single nucleotide variant not provided [RCV000413530] ChrX:37803875 [GRCh38]
ChrX:37663128 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
NM_000397.3(CYBB):c.1618del (p.Glu540fs) deletion not provided [RCV000522975] ChrX:37810822 [GRCh38]
ChrX:37670075 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000397.3(CYBB):c.1231A>T (p.Ile411Phe) single nucleotide variant Inborn genetic diseases [RCV000623890]|not provided [RCV000424658] ChrX:37805085 [GRCh38]
ChrX:37664338 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000397.3(CYBB):c.253-8A>G single nucleotide variant not provided [RCV000485537] ChrX:37791967 [GRCh38]
ChrX:37651220 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.3(CYBB):c.1662dup (p.Glu555Ter) duplication not provided [RCV000478680] ChrX:37810865..37810866 [GRCh38]
ChrX:37670118..37670119 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.602_605dup (p.Phe202fs) duplication not provided [RCV000486933] ChrX:37796065..37796066 [GRCh38]
ChrX:37655318..37655319 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.85del (p.Tyr29fs) deletion not provided [RCV000479844] ChrX:37782127 [GRCh38]
ChrX:37641380 [GRCh37]
ChrX:Xp21.1
pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2 copy number gain See cases [RCV000510479] ChrX:37584811..38467647 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_000397.3(CYBB):c.141+1G>T single nucleotide variant not provided [RCV000497822] ChrX:37782184 [GRCh38]
ChrX:37641437 [GRCh37]
ChrX:Xp21.1
likely pathogenic
NM_000397.3(CYBB):c.54_79del (p.Trp18fs) deletion not provided [RCV000498387] ChrX:37782092..37782117 [GRCh38]
ChrX:37641345..37641370 [GRCh37]
ChrX:Xp21.1
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000397.3(CYBB):c.483+1G>T single nucleotide variant not provided [RCV000493750] ChrX:37793811 [GRCh38]
ChrX:37653064 [GRCh37]
ChrX:Xp21.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000397.3(CYBB):c.1169C>T (p.Pro390Leu) single nucleotide variant not provided [RCV000492903] ChrX:37805023 [GRCh38]
ChrX:37664276 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.3(CYBB):c.343C>T (p.His115Tyr) single nucleotide variant not provided [RCV000493003] ChrX:37793670 [GRCh38]
ChrX:37652923 [GRCh37]
ChrX:Xp21.1
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000397.4(CYBB):c.37_45+2del deletion Chronic granulomatous disease, X-linked [RCV000640726] ChrX:37780113..37780123 [GRCh38]
ChrX:37639366..37639376 [GRCh37]
ChrX:Xp21.1
likely pathogenic
NM_000397.3(CYBB):c.1151+19T>G single nucleotide variant not specified [RCV000602194] ChrX:37804149 [GRCh38]
ChrX:37663402 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_000397.3(CYBB):c.1462-7C>A single nucleotide variant Chronic granulomatous disease, X-linked [RCV000640723] ChrX:37809560 [GRCh38]
ChrX:37668813 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.3(CYBB):c.1159G>A (p.Val387Ile) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000640725] ChrX:37805013 [GRCh38]
ChrX:37664266 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.3(CYBB):c.686G>A (p.Arg229His) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000640727] ChrX:37798966 [GRCh38]
ChrX:37658219 [GRCh37]
ChrX:Xp21.1
benign
NM_000397.3(CYBB):c.1006G>T (p.Glu336Ter) single nucleotide variant not provided [RCV000627247] ChrX:37803985 [GRCh38]
ChrX:37663238 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_000397.3(CYBB):c.805A>G (p.Thr269Ala) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000701848] ChrX:37801256 [GRCh38]
ChrX:37660509 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.3(CYBB):c.649A>C (p.Ile217Leu) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000706099] ChrX:37796116 [GRCh38]
ChrX:37655369 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.3(CYBB):c.1011G>A (p.Trp337Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000695304] ChrX:37803990 [GRCh38]
ChrX:37663243 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.1466_1467del (p.Asn489fs) deletion Chronic granulomatous disease, X-linked [RCV000696039] ChrX:37809571..37809572 [GRCh38]
ChrX:37668824..37668825 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.455A>G (p.Tyr152Cys) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000696492] ChrX:37793782 [GRCh38]
ChrX:37653035 [GRCh37]
ChrX:Xp21.1
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000397.4(CYBB):c.1587-6C>T single nucleotide variant not provided [RCV000939922] ChrX:37810785 [GRCh38]
ChrX:37670038 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.1237dup (p.Val413fs) duplication Chronic granulomatous disease, X-linked [RCV000761230] ChrX:37805087..37805088 [GRCh38]
ChrX:37664340..37664341 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_000397.4(CYBB):c.1152-1G>A single nucleotide variant Chronic granulomatous disease, X-linked [RCV001044056] ChrX:37805005 [GRCh38]
ChrX:37664258 [GRCh37]
ChrX:Xp11.4
likely pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NC_000023.11:g.(?_37780009)_(37782203_?)del deletion Chronic granulomatous disease, X-linked [RCV001031379] ChrX:37639262..37641456 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.902_905TCAC[1] (p.His303fs) microsatellite Chronic granulomatous disease, X-linked [RCV001045393] ChrX:37803881..37803884 [GRCh38]
ChrX:37663134..37663137 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.58G>A (p.Gly20Arg) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001067879] ChrX:37782100 [GRCh38]
ChrX:37641353 [GRCh37]
ChrX:Xp21.1
likely pathogenic
NM_000397.4(CYBB):c.1244C>G (p.Pro415Arg) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001228259] ChrX:37805098 [GRCh38]
ChrX:37664351 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.4(CYBB):c.1095G>C (p.Leu365=) single nucleotide variant not provided [RCV000980934] ChrX:37804074 [GRCh38]
ChrX:37663327 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.252+7G>A single nucleotide variant not provided [RCV000983199] ChrX:37783607 [GRCh38]
ChrX:37642860 [GRCh37]
ChrX:Xp21.1
likely benign
NM_000397.4(CYBB):c.1290C>T (p.Asn430=) single nucleotide variant not provided [RCV000944539] ChrX:37805144 [GRCh38]
ChrX:37664397 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.6G>C (p.Gly2=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000970649] ChrX:37780083 [GRCh38]
ChrX:37639336 [GRCh37]
ChrX:Xp21.1
benign
NC_000023.11:g.(?_37780009)_(37810937_?)dup duplication Chronic granulomatous disease, X-linked [RCV001032894] ChrX:37639262..37670190 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.483+5G>A single nucleotide variant Chronic granulomatous disease, X-linked [RCV001062503] ChrX:37793815 [GRCh38]
ChrX:37653068 [GRCh37]
ChrX:Xp21.1
likely pathogenic
NM_000397.4(CYBB):c.388C>T (p.Arg130Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001069571] ChrX:37793715 [GRCh38]
ChrX:37652968 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.3(CYBB):c.1085C>T (p.Thr362Ile) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000780206] ChrX:37804064 [GRCh38]
ChrX:37663317 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.4(CYBB):c.674+62dup duplication not specified [RCV000781321] ChrX:37796201..37796202 [GRCh38]
ChrX:37655454..37655455 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.3(CYBB):c.1152-7C>T single nucleotide variant not provided [RCV000788778] ChrX:37804999 [GRCh38]
ChrX:37664252 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.1689C>T (p.Phe563=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000882079] ChrX:37810893 [GRCh38]
ChrX:37670146 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.4(CYBB):c.1137G>A (p.Ala379=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000929251] ChrX:37804116 [GRCh38]
ChrX:37663369 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.562T>C (p.Leu188=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000978311] ChrX:37796029 [GRCh38]
ChrX:37655282 [GRCh37]
ChrX:Xp21.1
likely benign
NM_000397.4(CYBB):c.1203T>C (p.Tyr401=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000908387] ChrX:37805057 [GRCh38]
ChrX:37664310 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.4(CYBB):c.30C>T (p.Leu10=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000901094] ChrX:37780107 [GRCh38]
ChrX:37639360 [GRCh37]
ChrX:Xp21.1
benign
NM_000397.4(CYBB):c.1059C>T (p.Ile353=) single nucleotide variant not provided [RCV000944312] ChrX:37804038 [GRCh38]
ChrX:37663291 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.1369C>T (p.Leu457=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000944838] ChrX:37806441 [GRCh38]
ChrX:37665694 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.1300C>T (p.Leu434=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000929836] ChrX:37805154 [GRCh38]
ChrX:37664407 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.4(CYBB):c.855G>A (p.Leu285=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000939389] ChrX:37801306 [GRCh38]
ChrX:37660559 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001030041] ChrX:37804118 [GRCh38]
ChrX:37663371 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.3(CYBB):c.674+34T>G single nucleotide variant not specified [RCV000781319] ChrX:37796175 [GRCh38]
ChrX:37655428 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.4(CYBB):c.126A>G (p.Thr42=) single nucleotide variant not provided [RCV000975689] ChrX:37782168 [GRCh38]
ChrX:37641421 [GRCh37]
ChrX:Xp21.1
likely benign
NM_000397.4(CYBB):c.414A>G (p.Ser138=) single nucleotide variant not provided [RCV000976562] ChrX:37793741 [GRCh38]
ChrX:37652994 [GRCh37]
ChrX:Xp21.1
likely benign
NM_000397.3(CYBB):c.662T>C (p.Ile221Thr) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000797216]|not provided [RCV001090906] ChrX:37796129 [GRCh38]
ChrX:37655382 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.3(CYBB):c.1579C>T (p.His527Tyr) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000819157] ChrX:37809684 [GRCh38]
ChrX:37668937 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.3(CYBB):c.322A>G (p.Ile108Val) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000818301] ChrX:37792044 [GRCh38]
ChrX:37651297 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.4(CYBB):c.1313dup (p.Ile439fs) duplication Chronic granulomatous disease, X-linked [RCV000800284] ChrX:37805162..37805163 [GRCh38]
ChrX:37664415..37664416 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.1320C>G (p.Tyr440Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000816133] ChrX:37806392 [GRCh38]
ChrX:37665645 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.3(CYBB):c.45+2del deletion Chronic granulomatous disease, X-linked [RCV000822902] ChrX:37780124 [GRCh38]
ChrX:37639377 [GRCh37]
ChrX:Xp21.1
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000397.3(CYBB):c.1462-1G>A single nucleotide variant not provided [RCV000788961] ChrX:37809566 [GRCh38]
ChrX:37668819 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_000397.3(CYBB):c.946G>C (p.Gly316Arg) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000811722] ChrX:37803925 [GRCh38]
ChrX:37663178 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.1333T>C (p.Cys445Arg) single nucleotide variant not provided [RCV000999388] ChrX:37806405 [GRCh38]
ChrX:37665658 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.3(CYBB):c.1103C>T (p.Ala368Val) single nucleotide variant Primary ciliary dyskinesia [RCV000785880] ChrX:37804082 [GRCh38]
ChrX:37663335 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.1689del (p.Phe563fs) deletion Chronic granulomatous disease, X-linked [RCV000800384] ChrX:37810893 [GRCh38]
ChrX:37670146 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_37810771)_(37810937_?)del deletion Chronic granulomatous disease, X-linked [RCV001031052] ChrX:37670024..37670190 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.4(CYBB):c.1275C>G (p.Tyr425Ter) single nucleotide variant not provided [RCV001008653] ChrX:37805129 [GRCh38]
ChrX:37664382 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000397.4(CYBB):c.865del (p.Trp289fs) deletion not provided [RCV001008997] ChrX:37801313 [GRCh38]
ChrX:37660566 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.1469A>C (p.His490Pro) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001066081] ChrX:37809574 [GRCh38]
ChrX:37668827 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.988_989del (p.Pro330fs) deletion not provided [RCV001008585] ChrX:37803966..37803967 [GRCh38]
ChrX:37663219..37663220 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.4(CYBB):c.251C>T (p.Ala84Val) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001216286] ChrX:37783599 [GRCh38]
ChrX:37642852 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.4(CYBB):c.812A>C (p.Lys271Thr) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001209458] ChrX:37801263 [GRCh38]
ChrX:37660516 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001239616] ChrX:37805145 [GRCh38]
ChrX:37664398 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.1340A>T (p.Asp447Val) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001239620] ChrX:37806412 [GRCh38]
ChrX:37665665 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.1181C>T (p.Ala394Val) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001238106] ChrX:37805035 [GRCh38]
ChrX:37664288 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.840T>A (p.Tyr280Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001219159] ChrX:37801291 [GRCh38]
ChrX:37660544 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000397.4(CYBB):c.1571C>T (p.Ala524Val) single nucleotide variant not provided [RCV000999389] ChrX:37809676 [GRCh38]
ChrX:37668929 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000397.4(CYBB):c.1147C>T (p.Pro383Ser) single nucleotide variant not provided [RCV001172202] ChrX:37804126 [GRCh38]
ChrX:37663379 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_000397.4(CYBB):c.1415del (p.Gly472fs) deletion Chronic granulomatous disease, X-linked [RCV001192989] ChrX:37806486 [GRCh38]
ChrX:37665739 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.1314+7C>G single nucleotide variant Chronic granulomatous disease, X-linked [RCV000977220] ChrX:37805175 [GRCh38]
ChrX:37664428 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.948G>T (p.Gly316=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000916577] ChrX:37803927 [GRCh38]
ChrX:37663180 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000907309] ChrX:37806486 [GRCh38]
ChrX:37665739 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.4(CYBB):c.1365A>C (p.Ala455=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000930623] ChrX:37806437 [GRCh38]
ChrX:37665690 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000397.4(CYBB):c.27G>T (p.Gly9=) single nucleotide variant not provided [RCV000927099] ChrX:37780104 [GRCh38]
ChrX:37639357 [GRCh37]
ChrX:Xp21.1
likely benign
NM_000397.4(CYBB):c.1158G>A (p.Ala386=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000933481] ChrX:37805012 [GRCh38]
ChrX:37664265 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.4(CYBB):c.542T>C (p.Val181Ala) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001236247] ChrX:37796009 [GRCh38]
ChrX:37655262 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.4(CYBB):c.867G>T (p.Trp289Cys) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001222858] ChrX:37801318 [GRCh38]
ChrX:37660571 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.1010G>A (p.Trp337Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001236453] ChrX:37803989 [GRCh38]
ChrX:37663242 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.473A>G (p.Lys158Arg) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001243326] ChrX:37793800 [GRCh38]
ChrX:37653053 [GRCh37]
ChrX:Xp21.1
uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_000397.4(CYBB):c.1427A>G (p.Tyr476Cys) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001227593] ChrX:37806499 [GRCh38]
ChrX:37665752 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.924C>G (p.Ile308Met) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001245414] ChrX:37803903 [GRCh38]
ChrX:37663156 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_37780009)_(37810937_?)del deletion Chronic granulomatous disease, X-linked [RCV001033219] ChrX:37639262..37670190 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.1245del (p.Phe416fs) deletion Chronic granulomatous disease, X-linked [RCV001046324] ChrX:37805097 [GRCh38]
ChrX:37664350 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.336T>C (p.Ser112=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001238469] ChrX:37792058 [GRCh38]
ChrX:37651311 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_000397.4(CYBB):c.1032C>G (p.Ser344=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000889369] ChrX:37804011 [GRCh38]
ChrX:37663264 [GRCh37]
ChrX:Xp11.4
benign
NM_000397.4(CYBB):c.297C>A (p.Thr99=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000934296] ChrX:37792019 [GRCh38]
ChrX:37651272 [GRCh37]
ChrX:Xp21.1
likely benign
NM_000397.4(CYBB):c.1326C>A (p.Tyr442Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV000990769] ChrX:37806398 [GRCh38]
ChrX:37665651 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.1085C>A (p.Thr362Lys) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001066214] ChrX:37804064 [GRCh38]
ChrX:37663317 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.141+1del deletion Chronic granulomatous disease, X-linked [RCV001246396] ChrX:37782181 [GRCh38]
ChrX:37641434 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.4(CYBB):c.1286A>G (p.Asn429Ser) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001070920] ChrX:37805140 [GRCh38]
ChrX:37664393 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NM_000397.4(CYBB):c.1189G>T (p.Asp397Tyr) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001203617] ChrX:37805043 [GRCh38]
ChrX:37664296 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.693_694del (p.Gln231fs) deletion Chronic granulomatous disease, X-linked [RCV001212494] ChrX:37798972..37798973 [GRCh38]
ChrX:37658225..37658226 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.4(CYBB):c.446del (p.Asn149fs) deletion Chronic granulomatous disease, X-linked [RCV001051531] ChrX:37793770 [GRCh38]
ChrX:37653023 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.4(CYBB):c.643TTC[1] (p.Phe216del) microsatellite Chronic granulomatous disease, X-linked [RCV001230670] ChrX:37796108..37796110 [GRCh38]
ChrX:37655361..37655363 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_000397.4(CYBB):c.1072G>A (p.Val358Ile) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001058762] ChrX:37804051 [GRCh38]
ChrX:37663304 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000397.4(CYBB):c.187A>C (p.Asn63His) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001036982] ChrX:37783535 [GRCh38]
ChrX:37642788 [GRCh37]
ChrX:Xp21.1
uncertain significance
GRCh37/hg19 Xp21.1-11.4(chrX:37472900-37879310)x2 copy number gain not provided [RCV001007295] ChrX:37472900..37879310 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
NM_000397.4(CYBB):c.987C>A (p.Cys329Ter) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001215316] ChrX:37803966 [GRCh38]
ChrX:37663219 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.11:g.(?_37780009)_(38421102_?)del deletion Chronic granulomatous disease, X-linked [RCV001033901] ChrX:37639262..38280355 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001063853] ChrX:37809601 [GRCh38]
ChrX:37668854 [GRCh37]
ChrX:Xp11.4
uncertain significance
Single allele deletion Retinitis pigmentosa 15 [RCV001251576] ChrX:35820200..38547007 [GRCh37]
ChrX:Xp21.1-11.4
pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3 copy number gain not provided [RCV001258967] ChrX:37487291..38568933 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2578 AgrOrtholog
COSMIC CYBB COSMIC
Ensembl Genes ENSG00000165168 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000367851 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378588 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165168 GTEx
HGNC ID HGNC:2578 ENTREZGENE
Human Proteome Map CYBB Human Proteome Map
InterPro Cyt_b245_heavy_chain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_FR_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe3_Rdtase_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe_red_NAD-bd_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FNR_nucleotide-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Riboflavin_synthase-like_b-brl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1536 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1536 ENTREZGENE
OMIM 300481 OMIM
  300645 OMIM
  306400 OMIM
Pfam FAD_binding_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferric_reduct UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_binding_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27076 PharmGKB
PRINTS GP91PHOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FAD_FR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52343 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.292356 ENTREZGENE
UniProt A0A0S2Z3S6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4A9_HUMAN UniProtKB/TrEMBL
  CY24B_HUMAN UniProtKB/Swiss-Prot
  G8Z8Y8_HUMAN UniProtKB/TrEMBL
  P04839 ENTREZGENE
  V9GZH6_HUMAN UniProtKB/TrEMBL
  V9GZN7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K138 UniProtKB/Swiss-Prot
  Q2PP16 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 CYBB  cytochrome b-245 beta chain    cytochrome b-245, beta polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-16 CYBB  cytochrome b-245, beta polypeptide  CYBB  cytochrome b-245, beta polypeptide  Symbol and/or name change 5135510 APPROVED