NCF2 (neutrophil cytosolic factor 2) - Rat Genome Database

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Gene: NCF2 (neutrophil cytosolic factor 2) Homo sapiens
Analyze
Symbol: NCF2
Name: neutrophil cytosolic factor 2
RGD ID: 1319760
HGNC Page HGNC:7661
Description: Enables superoxide-generating NADPH oxidase activator activity. Involved in superoxide anion generation. Located in cytosol and membrane. Part of NADPH oxidase complex. Implicated in Alzheimer's disease; autosomal recessive chronic granulomatous disease 2; and rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 67 kDa neutrophil oxidase factor; chronic granulomatous disease, autosomal 2; FLJ93058; NADPH oxidase activator 2; NCF-2; neutrophil cytosol factor 2; neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2); neutrophil NADPH oxidase factor 2; NOXA2; P67-PHOX; P67PHOX
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381183,555,562 - 183,601,849 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1183,554,461 - 183,590,905 (-)EnsemblGRCh38hg38GRCh38
GRCh371183,524,697 - 183,560,049 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361181,791,320 - 181,826,339 (-)NCBINCBI36Build 36hg18NCBI36
Build 341180,256,354 - 180,291,668NCBI
Celera1156,635,747 - 156,671,088 (-)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1154,760,563 - 154,795,907 (-)NCBIHuRef
CHM1_11184,947,718 - 184,983,070 (-)NCBICHM1_1
T2T-CHM13v2.01182,914,853 - 182,961,131 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (EXP)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
apocynin  (ISO)
arachidonic acid  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
berberine  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
BQ 123  (ISO)
bromodichloromethane  (ISO)
cadmium dichloride  (EXP,ISO)
cannabidiol  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
ceric oxide  (ISO)
cerium trichloride  (EXP)
CGP 52608  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
clothianidin  (EXP)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
D-glucose  (ISO)
daunorubicin  (ISO)
DDE  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
diallyl disulfide  (EXP)
diallyl trisulfide  (EXP)
Diallyltetrasulfane  (EXP)
diarsenic trioxide  (EXP,ISO)
dichloromethane  (EXP)
diminazene diaceturate  (EXP)
dioxygen  (EXP,ISO)
dofetilide  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
endosulfan  (EXP)
ethanol  (ISO)
ethylbenzene  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glucose  (ISO)
hexadecanoic acid  (ISO)
hydrogen chloride  (ISO)
hydroquinone  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
kanamycin A  (ISO)
L-methionine  (ISO)
Lasiocarpine  (EXP)
linoleic acid  (EXP)
lipopolysaccharide  (ISO)
medroxyprogesterone acetate  (ISO)
menadione  (ISO)
microcystin-LR  (ISO)
N-acetyl-L-cysteine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nebivolol  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
o-xylene  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
potassium chromate  (EXP)
progesterone  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
reactive oxygen species  (EXP)
resveratrol  (ISO)
rottlerin  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sirolimus  (ISO)
sodium arsenite  (EXP)
spironolactone  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
superoxide  (ISO)
tamoxifen  (EXP)
telmisartan  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (EXP)
trichloroethene  (EXP,ISO)
triphenylstannane  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)

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

References - curated
# Reference Title Reference Citation
1. Flow-induced remodeling in resistance arteries from obese Zucker rats is associated with endothelial dysfunction. Bouvet C, etal., Hypertension. 2007 Jul;50(1):248-54. Epub 2007 May 21.
2. Elevated expression of p47phox and p67phox proteins in neutrophils from burned rats. Fazal N, etal., Shock. 1997 Oct;8(4):256-60.
3. Increased expression of NAD(P)H oxidase subunit p67(phox) in the renal medulla contributes to excess oxidative stress and salt-sensitive hypertension. Feng D, etal., Cell Metab. 2012 Feb 8;15(2):201-8. doi: 10.1016/j.cmet.2012.01.003.
4. Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Francke U, etal., Am J Hum Genet. 1990 Sep;47(3):483-92.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Comprehensive Proteomic and Metabolomic Signatures of Nontypeable Haemophilus influenzae-Induced Acute Otitis Media Reveal Bacterial Aerobic Respiration in an Immunosuppressed Environment. Harrison A, etal., Mol Cell Proteomics. 2016 Mar;15(3):1117-38. doi: 10.1074/mcp.M115.052498. Epub 2015 Dec 28.
7. Translocation of glomerular p47phox and p67phox by protein kinase C-beta activation is required for oxidative stress in diabetic nephropathy. Kitada M, etal., Diabetes. 2003 Oct;52(10):2603-14.
8. A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity. Olsson LM, etal., Arthritis Res Ther. 2007;9(5):R98. doi: 10.1186/ar2299.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Activation of NADPH oxidase and extracellular superoxide production in seizure-induced hippocampal damage. Patel M, etal., J Neurochem. 2005 Jan;92(1):123-31.
11. Effect of chronic apocynin treatment on nitric oxide and reactive oxygen species production in borderline and spontaneous hypertension. Pechanova O, etal., Pharmacol Rep. 2009 Jan-Feb;61(1):116-22.
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Activation of NADPH oxidase in Alzheimer's disease brains. Shimohama S, etal., Biochem Biophys Res Commun. 2000 Jun 24;273(1):5-9.
17. NAD(P)H oxidase, superoxide dismutase, catalase, glutathione peroxidase and nitric oxide synthase expression in subacute spinal cord injury. Vaziri ND, etal., Brain Res. 2004 Jan 2;995(1):76-83.
18. Mechanisms underlying recoupling of eNOS by HMG-CoA reductase inhibition in a rat model of streptozotocin-induced diabetes mellitus. Wenzel P, etal., Atherosclerosis. 2008 May;198(1):65-76. Epub 2007 Dec 3.
Additional References at PubMed
PMID:1692159   PMID:1979859   PMID:7738010   PMID:7903171   PMID:7938008   PMID:8036496   PMID:8257426   PMID:8280052   PMID:8286749   PMID:8550629   PMID:8748143   PMID:8889548  
PMID:8975869   PMID:9070911   PMID:9083043   PMID:9121467   PMID:9255350   PMID:9365277   PMID:9624165   PMID:9642115   PMID:9914162   PMID:10486263   PMID:10498624   PMID:10598813  
PMID:10672014   PMID:11090627   PMID:11248021   PMID:11278853   PMID:11483497   PMID:11483614   PMID:11705402   PMID:11733522   PMID:11781392   PMID:11796733   PMID:11893732   PMID:11896062  
PMID:11917128   PMID:11929750   PMID:12101222   PMID:12121978   PMID:12130503   PMID:12169629   PMID:12207919   PMID:12477932   PMID:12515553   PMID:12716910   PMID:12719414   PMID:12813044  
PMID:12887891   PMID:15181005   PMID:15256399   PMID:15260500   PMID:15342556   PMID:15489334   PMID:15513967   PMID:15591124   PMID:15642721   PMID:15657040   PMID:16052631   PMID:16293794  
PMID:16297854   PMID:16310324   PMID:16344560   PMID:16608528   PMID:16626305   PMID:16710414   PMID:16782902   PMID:16844764   PMID:16987007   PMID:17060455   PMID:17462995   PMID:17537988  
PMID:17651608   PMID:17703412   PMID:17712795   PMID:17910042   PMID:18029348   PMID:18029359   PMID:18424721   PMID:18546332   PMID:18625437   PMID:18676680   PMID:18765662   PMID:19116138  
PMID:19129478   PMID:19170196   PMID:19258923   PMID:19372141   PMID:19423521   PMID:19423540   PMID:19439231   PMID:19505917   PMID:19625176   PMID:19692168   PMID:19717732   PMID:19913121  
PMID:19953534   PMID:20056178   PMID:20074641   PMID:20167518   PMID:20237496   PMID:20375610   PMID:20406964   PMID:20438785   PMID:20503287   PMID:20628086   PMID:20679349   PMID:20842512  
PMID:21119665   PMID:21516116   PMID:21873635   PMID:21900546   PMID:21954286   PMID:22046141   PMID:22203994   PMID:22562447   PMID:22876374   PMID:23187810   PMID:23264412   PMID:23821607  
PMID:24162774   PMID:24163247   PMID:24596025   PMID:24598074   PMID:25056956   PMID:25301945   PMID:25416956   PMID:25795782   PMID:25910212   PMID:26160850   PMID:26272171   PMID:26320741  
PMID:26871637   PMID:27048830   PMID:27220316   PMID:27765769   PMID:28035544   PMID:28096301   PMID:28514442   PMID:30021884   PMID:30323221   PMID:31245869   PMID:31515488   PMID:31794672  
PMID:32296183   PMID:32666379   PMID:32838362   PMID:33145364   PMID:33179520   PMID:33651148   PMID:33961781   PMID:34708124   PMID:34971477   PMID:35256949   PMID:36163178   PMID:37612524  


Genomics

Comparative Map Data
NCF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381183,555,562 - 183,601,849 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1183,554,461 - 183,590,905 (-)EnsemblGRCh38hg38GRCh38
GRCh371183,524,697 - 183,560,049 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361181,791,320 - 181,826,339 (-)NCBINCBI36Build 36hg18NCBI36
Build 341180,256,354 - 180,291,668NCBI
Celera1156,635,747 - 156,671,088 (-)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1154,760,563 - 154,795,907 (-)NCBIHuRef
CHM1_11184,947,718 - 184,983,070 (-)NCBICHM1_1
T2T-CHM13v2.01182,914,853 - 182,961,131 (-)NCBIT2T-CHM13v2.0
Ncf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391152,675,904 - 152,712,743 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1152,675,945 - 152,712,742 (+)EnsemblGRCm39 Ensembl
GRCm381152,800,153 - 152,836,990 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1152,800,194 - 152,836,991 (+)EnsemblGRCm38mm10GRCm38
MGSCv371154,655,020 - 154,684,120 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361154,570,108 - 154,599,208 (+)NCBIMGSCv36mm8
Celera1155,229,233 - 155,258,077 (+)NCBICelera
Cytogenetic Map1G3NCBI
cM Map165.05NCBI
Ncf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21364,955,622 - 64,986,144 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1364,955,503 - 64,986,277 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1367,557,295 - 67,587,614 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01368,844,234 - 68,874,605 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01366,095,157 - 66,125,664 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01370,226,441 - 70,259,019 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1370,226,647 - 70,257,576 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01375,197,561 - 75,229,600 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41367,806,516 - 67,834,105 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11367,797,870 - 67,848,218 (+)NCBI
Celera1364,862,007 - 64,890,467 (+)NCBICelera
Cytogenetic Map13q21NCBI
Ncf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540622,355,724 - 22,384,864 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540622,355,717 - 22,384,746 (-)NCBIChiLan1.0ChiLan1.0
NCF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1165,809,948 - 65,845,260 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01159,085,923 - 159,121,259 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11163,243,636 - 163,280,547 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1163,243,636 - 163,278,420 (-)Ensemblpanpan1.1panPan2
NCF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1716,914,629 - 16,946,370 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl716,904,031 - 16,945,372 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha716,500,692 - 16,530,126 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0716,646,647 - 16,676,710 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl716,643,324 - 16,676,880 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1716,555,169 - 16,584,783 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0716,664,590 - 16,693,979 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0716,795,528 - 16,824,986 (-)NCBIUU_Cfam_GSD_1.0
Ncf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934488,454,048 - 88,478,994 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364816,301,012 - 6,324,787 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364816,300,894 - 6,325,878 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NCF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9124,776,534 - 124,812,923 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19124,776,516 - 124,813,358 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29137,106,514 - 137,143,201 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NCF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12545,770,370 - 45,807,064 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2545,770,641 - 45,806,515 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605546,986,801 - 47,023,905 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ncf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462481410,107,357 - 10,134,711 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462481410,107,351 - 10,134,737 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NCF2
377 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000526618]|not provided [RCV001532089]|not specified [RCV002282216] Chr1:183563531 [GRCh38]
Chr1:183532666 [GRCh37]
Chr1:1q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.399_400dup (p.Lys134fs) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002327] Chr1:183574587..183574588 [GRCh38]
Chr1:183543722..183543723 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.304C>T (p.Arg102Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002329] Chr1:183577661 [GRCh38]
Chr1:183546796 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002330]|not provided [RCV001582461] Chr1:183563437..183563441 [GRCh38]
Chr1:183532572..183532576 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.366+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002331]|not provided [RCV000522170] Chr1:183577598 [GRCh38]
Chr1:183546733 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002333]|not provided [RCV000494542] Chr1:183590267..183590275 [GRCh38]
Chr1:183559402..183559410 [GRCh37]
Chr1:1q25.3
pathogenic|likely pathogenic
NM_000433.4(NCF2):c.1069C>T (p.His357Tyr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001857969]|not provided [RCV000521067] Chr1:183563543 [GRCh38]
Chr1:183532678 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002332] Chr1:183577667 [GRCh38]
Chr1:183546802 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.383C>T (p.Ala128Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002334] Chr1:183574605 [GRCh38]
Chr1:183543740 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002335] Chr1:183586922 [GRCh38]
Chr1:183556057 [GRCh37]
Chr1:1q25.3
pathogenic|uncertain significance
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000002336]|not provided [RCV001650826]|not specified [RCV000597800] Chr1:183563302 [GRCh38]
Chr1:183532437 [GRCh37]
Chr1:1q25.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1
pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 copy number loss See cases [RCV000053949] Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
NM_000433.4(NCF2):c.1105G>A (p.Gly369Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001854241]|not provided [RCV000059356] Chr1:183563507 [GRCh38]
Chr1:183532642 [GRCh37]
Chr1:1q25.3
uncertain significance|not provided
NM_000433.4(NCF2):c.125A>G (p.Asn42Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059357] Chr1:183590205 [GRCh38]
Chr1:183559340 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.130G>C (p.Gly44Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059358] Chr1:183590200 [GRCh38]
Chr1:183559335 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.130G>T (p.Gly44Cys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059359]|not provided [RCV000430894] Chr1:183590200 [GRCh38]
Chr1:183559335 [GRCh37]
Chr1:1q25.3
uncertain significance|not provided
NM_000433.4(NCF2):c.233G>A (p.Gly78Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059360] Chr1:183586919 [GRCh38]
Chr1:183556054 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.235A>G (p.Met79Val) single nucleotide variant not provided [RCV000059361] Chr1:183586917 [GRCh38]
Chr1:183556052 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.279C>G (p.Asp93Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059362] Chr1:183577686 [GRCh38]
Chr1:183546821 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.305G>C (p.Arg102Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059363] Chr1:183577660 [GRCh38]
Chr1:183546795 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.323A>T (p.Asp108Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059364]|not provided [RCV001559780] Chr1:183577642 [GRCh38]
Chr1:183546777 [GRCh37]
Chr1:1q25.3
uncertain significance|not provided
NM_000433.4(NCF2):c.409T>A (p.Trp137Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059365] Chr1:183574579 [GRCh38]
Chr1:183543714 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.419C>A (p.Ala140Asp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059366] Chr1:183574569 [GRCh38]
Chr1:183543704 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.505C>G (p.Gln169Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059367] Chr1:183573289 [GRCh38]
Chr1:183542424 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.551G>C (p.Arg184Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059368] Chr1:183573243 [GRCh38]
Chr1:183542378 [GRCh37]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.605C>T (p.Ala202Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000059369] Chr1:183573189 [GRCh38]
Chr1:183542324 [GRCh37]
Chr1:1q25.3
likely pathogenic|not provided
NM_000433.4(NCF2):c.983G>A (p.Arg328Lys) single nucleotide variant not provided [RCV000059370] Chr1:183565721 [GRCh38]
Chr1:183534856 [GRCh37]
Chr1:1q25.3
not provided
NM_001174061.1(SMG7):c.3342C>T (p.Ser1114=) single nucleotide variant Malignant melanoma [RCV000060014] Chr1:183551835 [GRCh38]
Chr1:183520970 [GRCh37]
Chr1:181787593 [NCBI36]
Chr1:1q25.3
not provided
NM_000433.4(NCF2):c.1157G>A (p.Arg386Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000973778]|not provided [RCV001709577] Chr1:183563455 [GRCh38]
Chr1:183532590 [GRCh37]
Chr1:1q25.3
benign|uncertain significance
NM_000433.4(NCF2):c.1524A>C (p.Lys508Asn) single nucleotide variant not provided [RCV000255379] Chr1:183556175 [GRCh38]
Chr1:183525310 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.606G>A (p.Ala202=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000529432]|not provided [RCV001540488]|not specified [RCV000178768] Chr1:183573188 [GRCh38]
Chr1:183542323 [GRCh37]
Chr1:1q25.3
benign|likely benign
NM_000433.4(NCF2):c.565C>T (p.Gln189Ter) single nucleotide variant not provided [RCV000178769] Chr1:183573229 [GRCh38]
Chr1:183542364 [GRCh37]
Chr1:1q25.3
pathogenic
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3
pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 copy number loss See cases [RCV000240242] Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2
pathogenic
NM_000433.4(NCF2):c.175-149G>A single nucleotide variant not provided [RCV001549516] Chr1:183587126 [GRCh38]
Chr1:183556261 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1552G>C (p.Asp518His) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642283] Chr1:183556147 [GRCh38]
Chr1:183525282 [GRCh37]
Chr1:1q25.3
likely benign|uncertain significance
NM_000433.4(NCF2):c.443C>T (p.Thr148Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000277633] Chr1:183574545 [GRCh38]
Chr1:183543680 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000551931]|not provided [RCV001668644]|not specified [RCV000598123] Chr1:183560204 [GRCh38]
Chr1:183529339 [GRCh37]
Chr1:1q25.3
benign|likely benign|uncertain significance
NM_000433.4(NCF2):c.707T>C (p.Ile236Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000366527] Chr1:183569148 [GRCh38]
Chr1:183538283 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000526980]|NCF2-related condition [RCV003417936]|not provided [RCV001701989] Chr1:183563301 [GRCh38]
Chr1:183532436 [GRCh37]
Chr1:1q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001088101]|not provided [RCV000766500]|not specified [RCV000437670] Chr1:183573231 [GRCh38]
Chr1:183542366 [GRCh37]
Chr1:1q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.174+8G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000545518]|not provided [RCV001568279] Chr1:183590148 [GRCh38]
Chr1:183559283 [GRCh37]
Chr1:1q25.3
benign|likely benign|uncertain significance
NM_000433.3(NCF2):c.-249_-248insA insertion Chronic granulomatous disease [RCV000281005]|not provided [RCV001618505] Chr1:183590577..183590578 [GRCh38]
Chr1:183559712..183559713 [GRCh37]
Chr1:1q25.3
benign|likely benign
NM_000433.4(NCF2):c.1001-10T>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000550625]|not provided [RCV001705335]|not specified [RCV000249327] Chr1:183564040 [GRCh38]
Chr1:183533175 [GRCh37]
Chr1:1q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.1291-6T>C single nucleotide variant not provided [RCV001507506] Chr1:183560279 [GRCh38]
Chr1:183529414 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000388595]|not provided [RCV001651127]|not specified [RCV000243467] Chr1:183573252 [GRCh38]
Chr1:183542387 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000539056]|not provided [RCV001668429]|not specified [RCV000253292] Chr1:183563445 [GRCh38]
Chr1:183532580 [GRCh37]
Chr1:1q25.3
benign|likely benign
NM_000433.3(NCF2):c.-240T>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000373385]|not provided [RCV001642903] Chr1:183590569 [GRCh38]
Chr1:183559704 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.*398G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000361687] Chr1:183555720 [GRCh38]
Chr1:183524855 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.*97A>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000387216] Chr1:183556021 [GRCh38]
Chr1:183525156 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.*262C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000328081] Chr1:183555856 [GRCh38]
Chr1:183524991 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.*539GTTT[1] microsatellite Chronic granulomatous disease [RCV000393796] Chr1:183555572..183555575 [GRCh38]
Chr1:183524707..183524710 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1084G>A (p.Val362Ile) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000270890] Chr1:183563528 [GRCh38]
Chr1:183532663 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) single nucleotide variant Developmental and epileptic encephalopathy, 28 [RCV001258235]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000539456]|not provided [RCV001705405]|not specified [RCV000309636] Chr1:183563229 [GRCh38]
Chr1:183532364 [GRCh37]
Chr1:1q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000433.4(NCF2):c.*517dup duplication Chronic granulomatous disease [RCV000300747] Chr1:183555600..183555601 [GRCh38]
Chr1:183524735..183524736 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001085219]|not provided [RCV000313929]|not specified [RCV002222475] Chr1:183590217 [GRCh38]
Chr1:183559352 [GRCh37]
Chr1:1q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.*393dup duplication Chronic granulomatous disease [RCV000326871] Chr1:183555724..183555725 [GRCh38]
Chr1:183524859..183524860 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000545841]|not specified [RCV000317093] Chr1:183566954 [GRCh38]
Chr1:183536089 [GRCh37]
Chr1:1q25.3
benign|likely benign
NM_000433.4(NCF2):c.*508_*512dup duplication Chronic granulomatous disease [RCV000355607] Chr1:183555605..183555606 [GRCh38]
Chr1:183524740..183524741 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.*510T>A single nucleotide variant Chronic granulomatous disease [RCV000265569] Chr1:183555608 [GRCh38]
Chr1:183524743 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.*397_*398insTCA insertion Chronic granulomatous disease [RCV000267086] Chr1:183555720..183555721 [GRCh38]
Chr1:183524855..183524856 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.*264AG[2] microsatellite Chronic granulomatous disease [RCV000291820] Chr1:183555849..183555850 [GRCh38]
Chr1:183524984..183524985 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.*393del deletion Chronic granulomatous disease [RCV000381536] Chr1:183555725 [GRCh38]
Chr1:183524860 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1385T>G (p.Val462Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000401057] Chr1:183560179 [GRCh38]
Chr1:183529314 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.*445A>C single nucleotide variant Chronic granulomatous disease [RCV000320618] Chr1:183555673 [GRCh38]
Chr1:183524808 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1336G>T (p.Asp446Tyr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000335234] Chr1:183560228 [GRCh38]
Chr1:183529363 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1291-15C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000407036] Chr1:183560288 [GRCh38]
Chr1:183529423 [GRCh37]
Chr1:1q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.1498A>G (p.Lys500Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000352650] Chr1:183556201 [GRCh38]
Chr1:183525336 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1247A>G (p.Gln416Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000300260] Chr1:183563238 [GRCh38]
Chr1:183532373 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1523A>G (p.Lys508Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000533046] Chr1:183556176 [GRCh38]
Chr1:183525311 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1178+9C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002065177]|not provided [RCV000591574] Chr1:183563425 [GRCh38]
Chr1:183532560 [GRCh37]
Chr1:1q25.3
likely benign|uncertain significance
NM_000433.4(NCF2):c.-98T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001099192] Chr1:183590427 [GRCh38]
Chr1:183559562 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.257+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001861411]|not provided [RCV000412920] Chr1:183586894 [GRCh38]
Chr1:183556029 [GRCh37]
Chr1:1q25.3
pathogenic|likely pathogenic
NM_000433.4(NCF2):c.366+1G>C single nucleotide variant not provided [RCV000412968] Chr1:183577598 [GRCh38]
Chr1:183546733 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.359C>T (p.Ala120Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000553435] Chr1:183577606 [GRCh38]
Chr1:183546741 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
NM_000433.4(NCF2):c.836C>T (p.Thr279Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000964238]|not provided [RCV001720014]|not specified [RCV001844158] Chr1:183567223 [GRCh38]
Chr1:183536358 [GRCh37]
Chr1:1q25.3
benign|likely benign
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 copy number loss See cases [RCV000448646] Chr1:179564752..183850820 [GRCh37]
Chr1:1q25.2-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164)x3 copy number gain See cases [RCV000448160] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
NM_000433.4(NCF2):c.835_836del (p.Thr279fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001865445]|not provided [RCV000482820] Chr1:183567223..183567224 [GRCh38]
Chr1:183536358..183536359 [GRCh37]
Chr1:1q25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000433.4(NCF2):c.1179-4C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642281]|not provided [RCV001675949] Chr1:183563310 [GRCh38]
Chr1:183532445 [GRCh37]
Chr1:1q25.3
benign|conflicting interpretations of pathogenicity
NM_000433.4(NCF2):c.693G>T (p.Pro231=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001486681] Chr1:183569162 [GRCh38]
Chr1:183538297 [GRCh37]
Chr1:1q25.3
likely benign
NC_000001.10:g.(?_183536035)_(183536500_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642284] Chr1:183566900..183567365 [GRCh38]
Chr1:183536035..183536500 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.93C>T (p.Ala31=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001083839]|not provided [RCV000728029] Chr1:183590237 [GRCh38]
Chr1:183559372 [GRCh37]
Chr1:1q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.49G>A (p.Ala17Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642278] Chr1:183590281 [GRCh38]
Chr1:183559416 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.636C>T (p.Asp212=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001097343]|not provided [RCV000597510] Chr1:183570813 [GRCh38]
Chr1:183539948 [GRCh37]
Chr1:1q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.1581G>C (p.Ter527Tyr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000642279] Chr1:183556118 [GRCh38]
Chr1:183525253 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3
likely pathogenic
NM_000433.4(NCF2):c.1321G>A (p.Glu441Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000688043] Chr1:183560243 [GRCh38]
Chr1:183529378 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1514T>C (p.Ile505Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000700972] Chr1:183556185 [GRCh38]
Chr1:183525320 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.482del (p.Lys161fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000690026] Chr1:183574506 [GRCh38]
Chr1:183543641 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.40del (p.Val14fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000695278] Chr1:183590290 [GRCh38]
Chr1:183559425 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.904del (p.His302fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000702612] Chr1:183566940 [GRCh38]
Chr1:183536075 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.812A>G (p.Lys271Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000697840] Chr1:183567247 [GRCh38]
Chr1:183536382 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1026+1G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000694265] Chr1:183564004 [GRCh38]
Chr1:183533139 [GRCh37]
Chr1:1q25.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1
pathogenic
NM_000433.4(NCF2):c.1401T>C (p.Ser467=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001450319] Chr1:183560163 [GRCh38]
Chr1:183529298 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1291-246C>T single nucleotide variant not provided [RCV001724549] Chr1:183560519 [GRCh38]
Chr1:183529654 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.713+252T>C single nucleotide variant not provided [RCV001709085] Chr1:183568890 [GRCh38]
Chr1:183538025 [GRCh37]
Chr1:1q25.3
benign
NM_001127651.3(NCF2):c.-31+134C>T single nucleotide variant not provided [RCV001609500] Chr1:183590706 [GRCh38]
Chr1:183559841 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.201C>T (p.Asp67=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002066043] Chr1:183586951 [GRCh38]
Chr1:183556086 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.444G>A (p.Thr148=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000882350] Chr1:183574544 [GRCh38]
Chr1:183543679 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.324C>T (p.Asp108=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001421181] Chr1:183577641 [GRCh38]
Chr1:183546776 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1083G>A (p.Thr361=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001506242] Chr1:183563529 [GRCh38]
Chr1:183532664 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1446T>C (p.Asp482=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000924982] Chr1:183560118 [GRCh38]
Chr1:183529253 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1469-5_1469-2dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001504536] Chr1:183556231..183556232 [GRCh38]
Chr1:183525366..183525367 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.229C>A (p.Arg77=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001061601] Chr1:183586923 [GRCh38]
Chr1:183556058 [GRCh37]
Chr1:1q25.3
likely benign|uncertain significance
NM_000433.4(NCF2):c.484G>A (p.Ala162Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001061781] Chr1:183574504 [GRCh38]
Chr1:183543639 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1268C>G (p.Thr423Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001069925] Chr1:183563217 [GRCh38]
Chr1:183532352 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.94G>A (p.Val32Ile) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001038440]|Inborn genetic diseases [RCV002551421] Chr1:183590236 [GRCh38]
Chr1:183559371 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.609G>A (p.Thr203=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001047178] Chr1:183573185 [GRCh38]
Chr1:183542320 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.64T>C (p.Trp22Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001050845] Chr1:183590266 [GRCh38]
Chr1:183559401 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
NM_000433.4(NCF2):c.855+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000778203] Chr1:183567203 [GRCh38]
Chr1:183536338 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1546A>G (p.Thr516Ala) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000806699]|not provided [RCV001507505] Chr1:183556153 [GRCh38]
Chr1:183525288 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.927G>A (p.Glu309=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000944776] Chr1:183565777 [GRCh38]
Chr1:183534912 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.918G>A (p.Gln306=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000937609] Chr1:183566926 [GRCh38]
Chr1:183536061 [GRCh37]
Chr1:1q25.3
benign|conflicting interpretations of pathogenicity
NM_000433.4(NCF2):c.939G>A (p.Pro313=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000944481] Chr1:183565765 [GRCh38]
Chr1:183534900 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.156C>T (p.Asn52=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000918399] Chr1:183590174 [GRCh38]
Chr1:183559309 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1183C>A (p.Arg395=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000803420] Chr1:183563302 [GRCh38]
Chr1:183532437 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.663A>G (p.Gln221=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000800029] Chr1:183570786 [GRCh38]
Chr1:183539921 [GRCh37]
Chr1:1q25.3
likely benign|uncertain significance
NM_000433.4(NCF2):c.934T>C (p.Ser312Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000811696] Chr1:183565770 [GRCh38]
Chr1:183534905 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1441G>A (p.Gly481Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000804222] Chr1:183560123 [GRCh38]
Chr1:183529258 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.244T>A (p.Tyr82Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000809135]|Inborn genetic diseases [RCV002538047] Chr1:183586908 [GRCh38]
Chr1:183556043 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.550C>T (p.Arg184Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002535792]|not provided [RCV000788837] Chr1:183573244 [GRCh38]
Chr1:183542379 [GRCh37]
Chr1:1q25.3
pathogenic|likely pathogenic
NM_000433.4(NCF2):c.692C>T (p.Pro231Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000818292] Chr1:183569163 [GRCh38]
Chr1:183538298 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.112C>T (p.Arg38Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000794385] Chr1:183590218 [GRCh38]
Chr1:183559353 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.319A>G (p.Ile107Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001046167] Chr1:183577646 [GRCh38]
Chr1:183546781 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.366+3A>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000806889] Chr1:183577596 [GRCh38]
Chr1:183546731 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.21C>G (p.Ile7Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000791651] Chr1:183590309 [GRCh38]
Chr1:183559444 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.837G>A (p.Thr279=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001097342] Chr1:183567222 [GRCh38]
Chr1:183536357 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.269C>T (p.Ala90Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000812884] Chr1:183577696 [GRCh38]
Chr1:183546831 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1543G>A (p.Ala515Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000794910] Chr1:183556156 [GRCh38]
Chr1:183525291 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000816923]|not provided [RCV001561611] Chr1:183563492 [GRCh38]
Chr1:183532627 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000814529] Chr1:183560239..183560243 [GRCh38]
Chr1:183529374..183529378 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.1441G>C (p.Gly481Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000798179] Chr1:183560123 [GRCh38]
Chr1:183529258 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.194A>G (p.Asn65Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000801293] Chr1:183586958 [GRCh38]
Chr1:183556093 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.670-4A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001068238] Chr1:183569189 [GRCh38]
Chr1:183538324 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1178+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001065930] Chr1:183563433 [GRCh38]
Chr1:183532568 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.669+6G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001234112] Chr1:183570774 [GRCh38]
Chr1:183539909 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.979G>A (p.Gly327Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001222631] Chr1:183565725 [GRCh38]
Chr1:183534860 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.818_832del (p.Gly273_Trp277del) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001209157] Chr1:183567227..183567241 [GRCh38]
Chr1:183536362..183536376 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.373T>C (p.Tyr125His) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001229779] Chr1:183574615 [GRCh38]
Chr1:183543750 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1291-3C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001219245] Chr1:183560276 [GRCh38]
Chr1:183529411 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_000433.4(NCF2):c.1183C>G (p.Arg395Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001212887] Chr1:183563302 [GRCh38]
Chr1:183532437 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.925-31G>A single nucleotide variant not provided [RCV001577409] Chr1:183565810 [GRCh38]
Chr1:183534945 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.502-320C>A single nucleotide variant not provided [RCV001608396] Chr1:183573612 [GRCh38]
Chr1:183542747 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1469-87A>C single nucleotide variant not provided [RCV001615789] Chr1:183556317 [GRCh38]
Chr1:183525452 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.175-283A>G single nucleotide variant not provided [RCV001671647] Chr1:183587260 [GRCh38]
Chr1:183556395 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.501+187G>T single nucleotide variant not provided [RCV001589326] Chr1:183574300 [GRCh38]
Chr1:183543435 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1469-255T>A single nucleotide variant not provided [RCV001694047] Chr1:183556485 [GRCh38]
Chr1:183525620 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.257+273A>G single nucleotide variant not provided [RCV001639846] Chr1:183586622 [GRCh38]
Chr1:183555757 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.257+274C>T single nucleotide variant not provided [RCV001581516] Chr1:183586621 [GRCh38]
Chr1:183555756 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1290+130C>T single nucleotide variant not provided [RCV001708045] Chr1:183563065 [GRCh38]
Chr1:183532200 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.258-190A>G single nucleotide variant not provided [RCV001710796] Chr1:183577897 [GRCh38]
Chr1:183547032 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.366+214C>A single nucleotide variant not provided [RCV001589814] Chr1:183577385 [GRCh38]
Chr1:183546520 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.855+78C>T single nucleotide variant not provided [RCV001687813] Chr1:183567126 [GRCh38]
Chr1:183536261 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.925-21G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001779269]|not provided [RCV001621845] Chr1:183565800 [GRCh38]
Chr1:183534935 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1179-5C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001466782] Chr1:183563311 [GRCh38]
Chr1:183532446 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000974550] Chr1:183565766 [GRCh38]
Chr1:183534901 [GRCh37]
Chr1:1q25.3
likely benign|conflicting interpretations of pathogenicity
NM_000433.4(NCF2):c.795C>T (p.Asn265=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000916582] Chr1:183567264 [GRCh38]
Chr1:183536399 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.645T>C (p.Ser215=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000925934] Chr1:183570804 [GRCh38]
Chr1:183539939 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.51G>A (p.Ala17=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000898041] Chr1:183590279 [GRCh38]
Chr1:183559414 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000933372]|Inborn genetic diseases [RCV003169367] Chr1:183586955 [GRCh38]
Chr1:183556090 [GRCh37]
Chr1:1q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.1410T>C (p.Ala470=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001449266] Chr1:183560154 [GRCh38]
Chr1:183529289 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1542C>T (p.Cys514=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000933482] Chr1:183556157 [GRCh38]
Chr1:183525292 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.196C>T (p.Arg66Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002558732]|not provided [RCV001172222] Chr1:183586956 [GRCh38]
Chr1:183556091 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.3(NCF2):c.-264C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001099194] Chr1:183590593 [GRCh38]
Chr1:183559728 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1018G>A (p.Glu340Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001238045] Chr1:183564013 [GRCh38]
Chr1:183533148 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV000913787] Chr1:183577667 [GRCh38]
Chr1:183546802 [GRCh37]
Chr1:1q25.3
benign|conflicting interpretations of pathogenicity
NM_000433.4(NCF2):c.610-276del deletion not provided [RCV001562193] Chr1:183571115 [GRCh38]
Chr1:183540250 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.*272_*274dup duplication not provided [RCV001545282] Chr1:183555843..183555844 [GRCh38]
Chr1:183524978..183524979 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.670-114T>G single nucleotide variant not provided [RCV001562313] Chr1:183569299 [GRCh38]
Chr1:183538434 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.610-242del deletion not provided [RCV001688684] Chr1:183571081 [GRCh38]
Chr1:183540216 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1000+295G>C single nucleotide variant not provided [RCV001689127] Chr1:183565409 [GRCh38]
Chr1:183534544 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.610-296_610-295dup duplication not provided [RCV001550196] Chr1:183571114..183571115 [GRCh38]
Chr1:183540249..183540250 [GRCh37]
Chr1:1q25.3
likely benign
NM_001127651.3(NCF2):c.-31+114A>G single nucleotide variant not provided [RCV001688096] Chr1:183590726 [GRCh38]
Chr1:183559861 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1001-21C>T single nucleotide variant not provided [RCV001655547] Chr1:183564051 [GRCh38]
Chr1:183533186 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.366+261C>T single nucleotide variant not provided [RCV001619101] Chr1:183577338 [GRCh38]
Chr1:183546473 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.924+250dup duplication not provided [RCV001614324] Chr1:183566668..183566669 [GRCh38]
Chr1:183535803..183535804 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.610-296dup duplication not provided [RCV001617861] Chr1:183571114..183571115 [GRCh38]
Chr1:183540249..183540250 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.174+295C>T single nucleotide variant not provided [RCV001635851] Chr1:183589861 [GRCh38]
Chr1:183558996 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1375G>C (p.Gly459Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001100830] Chr1:183560189 [GRCh38]
Chr1:183529324 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001101084] Chr1:183563557 [GRCh38]
Chr1:183532692 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1216dup (p.Ser406fs) duplication not provided [RCV001172221] Chr1:183563268..183563269 [GRCh38]
Chr1:183532403..183532404 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.1071C>T (p.His357=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001101083] Chr1:183563541 [GRCh38]
Chr1:183532676 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.-129T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001099193]|not provided [RCV001551428] Chr1:183590458 [GRCh38]
Chr1:183559593 [GRCh37]
Chr1:1q25.3
benign|likely benign
NM_000433.4(NCF2):c.175-179T>C single nucleotide variant not provided [RCV001710667] Chr1:183587156 [GRCh38]
Chr1:183556291 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.714-114A>C single nucleotide variant not provided [RCV001684665] Chr1:183567459 [GRCh38]
Chr1:183536594 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1000+158C>A single nucleotide variant not provided [RCV001691501] Chr1:183565546 [GRCh38]
Chr1:183534681 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.257+151C>T single nucleotide variant not provided [RCV001652291] Chr1:183586744 [GRCh38]
Chr1:183555879 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.714-116T>C single nucleotide variant not provided [RCV001679558] Chr1:183567461 [GRCh38]
Chr1:183536596 [GRCh37]
Chr1:1q25.3
benign
NC_000001.11:g.(?_183577579)_(183577727_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001032584] Chr1:183546714..183546862 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.196C>A (p.Arg66=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001099098] Chr1:183586956 [GRCh38]
Chr1:183556091 [GRCh37]
Chr1:1q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000433.4(NCF2):c.1492_1496dup (p.Cys499fs) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001202132] Chr1:183556202..183556203 [GRCh38]
Chr1:183525337..183525338 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1189C>T (p.Arg397Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001206552]|not provided [RCV003222255] Chr1:183563296 [GRCh38]
Chr1:183532431 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.157A>G (p.Met53Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001219158] Chr1:183590173 [GRCh38]
Chr1:183559308 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1165C>A (p.His389Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001217928] Chr1:183563447 [GRCh38]
Chr1:183532582 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.413A>G (p.Lys138Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001052405] Chr1:183574575 [GRCh38]
Chr1:183543710 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_000433.4(NCF2):c.610-3T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001064696] Chr1:183570842 [GRCh38]
Chr1:183539977 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.996A>G (p.Ser332=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001097341] Chr1:183565708 [GRCh38]
Chr1:183534843 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1469-5_1469-4dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001063894] Chr1:183556233..183556234 [GRCh38]
Chr1:183525368..183525369 [GRCh37]
Chr1:1q25.3
likely benign|uncertain significance
NM_000433.4(NCF2):c.174+1G>A single nucleotide variant Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 [RCV001334444] Chr1:183590155 [GRCh38]
Chr1:183559290 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.1568G>A (p.Arg523Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001267776] Chr1:183556131 [GRCh38]
Chr1:183525266 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.821A>G (p.Asn274Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001308611] Chr1:183567238 [GRCh38]
Chr1:183536373 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.305G>A (p.Arg102Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001320606] Chr1:183577660 [GRCh38]
Chr1:183546795 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.670-9G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001302165] Chr1:183569194 [GRCh38]
Chr1:183538329 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.739G>T (p.Val247Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001305941]|Inborn genetic diseases [RCV002543145] Chr1:183567320 [GRCh38]
Chr1:183536455 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1540T>C (p.Cys514Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001313089] Chr1:183556159 [GRCh38]
Chr1:183525294 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1126C>T (p.Arg376Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001306789] Chr1:183563486 [GRCh38]
Chr1:183532621 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.501+6C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001363475] Chr1:183574481 [GRCh38]
Chr1:183543616 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1077G>A (p.Lys359=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001422614] Chr1:183563535 [GRCh38]
Chr1:183532670 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.612C>T (p.Val204=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001433891] Chr1:183570837 [GRCh38]
Chr1:183539972 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1364A>G (p.Gln455Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001298404] Chr1:183560200 [GRCh38]
Chr1:183529335 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.426A>G (p.Glu142=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001392651] Chr1:183574562 [GRCh38]
Chr1:183543697 [GRCh37]
Chr1:1q25.3
likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_000433.4(NCF2):c.713+4A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001362198] Chr1:183569138 [GRCh38]
Chr1:183538273 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1273T>C (p.Trp425Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001373907] Chr1:183563212 [GRCh38]
Chr1:183532347 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.395C>T (p.Ala132Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001343568] Chr1:183574593 [GRCh38]
Chr1:183543728 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1567C>T (p.Arg523Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001365035]|Inborn genetic diseases [RCV002547831] Chr1:183556132 [GRCh38]
Chr1:183525267 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1052C>T (p.Pro351Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001324158]|Inborn genetic diseases [RCV002545145] Chr1:183563560 [GRCh38]
Chr1:183532695 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1460T>C (p.Leu487Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001297327] Chr1:183560104 [GRCh38]
Chr1:183529239 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.869C>T (p.Pro290Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001338930] Chr1:183566975 [GRCh38]
Chr1:183536110 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1194C>A (p.Asp398Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001363330] Chr1:183563291 [GRCh38]
Chr1:183532426 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.138G>A (p.Met46Ile) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001307894] Chr1:183590192 [GRCh38]
Chr1:183559327 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1508T>C (p.Val503Ala) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001323454] Chr1:183556191 [GRCh38]
Chr1:183525326 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.551G>A (p.Arg184Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001359963] Chr1:183573243 [GRCh38]
Chr1:183542378 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.898C>T (p.Arg300Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001339633] Chr1:183566946 [GRCh38]
Chr1:183536081 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.200A>G (p.Asp67Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001299845] Chr1:183586952 [GRCh38]
Chr1:183556087 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.290C>G (p.Ala97Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001326426] Chr1:183577675 [GRCh38]
Chr1:183546810 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.199G>T (p.Asp67Tyr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001367005] Chr1:183586953 [GRCh38]
Chr1:183556088 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1001-17C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001486962] Chr1:183564047 [GRCh38]
Chr1:183533182 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.924+8G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001473051] Chr1:183566912 [GRCh38]
Chr1:183536047 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.714-13C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001484670] Chr1:183567358 [GRCh38]
Chr1:183536493 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.511C>T (p.Leu171=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001482846] Chr1:183573283 [GRCh38]
Chr1:183542418 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.258-8T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001506845] Chr1:183577715 [GRCh38]
Chr1:183546850 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.195C>T (p.Asn65=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001476941] Chr1:183586957 [GRCh38]
Chr1:183556092 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.925-8G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001493280] Chr1:183565787 [GRCh38]
Chr1:183534922 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.486G>A (p.Ala162=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001469053] Chr1:183574502 [GRCh38]
Chr1:183543637 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1001-6A>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001400630] Chr1:183564036 [GRCh38]
Chr1:183533171 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.257+251G>A single nucleotide variant not provided [RCV001665030] Chr1:183586644 [GRCh38]
Chr1:183555779 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.528G>A (p.Val176=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001401110] Chr1:183573266 [GRCh38]
Chr1:183542401 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.910C>T (p.Gln304Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001390471] Chr1:183566934 [GRCh38]
Chr1:183536069 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.891T>G (p.Val297=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001417622] Chr1:183566953 [GRCh38]
Chr1:183536088 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.60G>A (p.Lys20=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001400026] Chr1:183590270 [GRCh38]
Chr1:183559405 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.501+7G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001406179] Chr1:183574480 [GRCh38]
Chr1:183543615 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.367-1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001378719] Chr1:183574622 [GRCh38]
Chr1:183543757 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.258-2150T>C single nucleotide variant not provided [RCV001675359] Chr1:183579857 [GRCh38]
Chr1:183548992 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.174+186C>T single nucleotide variant not provided [RCV001614926] Chr1:183589970 [GRCh38]
Chr1:183559105 [GRCh37]
Chr1:1q25.3
benign
NM_001127651.3(NCF2):c.-91C>T single nucleotide variant not provided [RCV001619400] Chr1:183590900 [GRCh38]
Chr1:183560035 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.366+232C>T single nucleotide variant not provided [RCV001687469] Chr1:183577367 [GRCh38]
Chr1:183546502 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1578C>T (p.Val526=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001495935] Chr1:183556121 [GRCh38]
Chr1:183525256 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.367-16G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001512003] Chr1:183574637 [GRCh38]
Chr1:183543772 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1287A>G (p.Thr429=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001478468] Chr1:183563198 [GRCh38]
Chr1:183532333 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.436T>C (p.Leu146=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001454214] Chr1:183574552 [GRCh38]
Chr1:183543687 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1342A>G (p.Asn448Asp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001514536]|not specified [RCV002222714] Chr1:183560222 [GRCh38]
Chr1:183529357 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1128G>C (p.Arg376=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001434793] Chr1:183563484 [GRCh38]
Chr1:183532619 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.273C>T (p.Ile91=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001441248] Chr1:183577692 [GRCh38]
Chr1:183546827 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.175-209G>A single nucleotide variant not provided [RCV001732688] Chr1:183587186 [GRCh38]
Chr1:183556321 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.713+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001784717] Chr1:183569141 [GRCh38]
Chr1:183538276 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.819C>T (p.Gly273=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001868604]|not provided [RCV001764034] Chr1:183567240 [GRCh38]
Chr1:183536375 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.805G>A (p.Val269Ile) single nucleotide variant not provided [RCV001768524] Chr1:183567254 [GRCh38]
Chr1:183536389 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.830G>A (p.Trp277Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001914597] Chr1:183567229 [GRCh38]
Chr1:183536364 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.855+16G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002043951] Chr1:183567188 [GRCh38]
Chr1:183536323 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1417C>T (p.Pro473Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001987715] Chr1:183560147 [GRCh38]
Chr1:183529282 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.251_254del (p.Thr84fs) microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001987692] Chr1:183586898..183586901 [GRCh38]
Chr1:183556033..183556036 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.30G>A (p.Trp10Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001909878] Chr1:183590300 [GRCh38]
Chr1:183559435 [GRCh37]
Chr1:1q25.3
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164) copy number gain not specified [RCV002053802] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 copy number loss not provided [RCV001836604] Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1
pathogenic
NM_000433.4(NCF2):c.1554T>G (p.Asp518Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001889882] Chr1:183556145 [GRCh38]
Chr1:183525280 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1A>T (p.Met1Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002002386] Chr1:183590329 [GRCh38]
Chr1:183559464 [GRCh37]
Chr1:1q25.3
pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_000433.4(NCF2):c.23G>T (p.Ser8Ile) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001911460]|Inborn genetic diseases [RCV002554354] Chr1:183590307 [GRCh38]
Chr1:183559442 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_000433.4(NCF2):c.1340C>T (p.Ala447Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001968790] Chr1:183560224 [GRCh38]
Chr1:183529359 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.637A>G (p.Ser213Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002020504] Chr1:183570812 [GRCh38]
Chr1:183539947 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1486G>C (p.Glu496Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001892866] Chr1:183556213 [GRCh38]
Chr1:183525348 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.932G>A (p.Ser311Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002004342] Chr1:183565772 [GRCh38]
Chr1:183534907 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1026G>A (p.Lys342=) single nucleotide variant Chronic granulomatous disease [RCV003226513]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001985518] Chr1:183564005 [GRCh38]
Chr1:183533140 [GRCh37]
Chr1:1q25.3
likely pathogenic|uncertain significance
NM_000433.4(NCF2):c.1490_1491insT (p.Glu498fs) insertion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001947414] Chr1:183556208..183556209 [GRCh38]
Chr1:183525343..183525344 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.536T>C (p.Val179Ala) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001987133] Chr1:183573258 [GRCh38]
Chr1:183542393 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1242G>T (p.Trp414Cys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001986886] Chr1:183563243 [GRCh38]
Chr1:183532378 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.406G>A (p.Glu136Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002023073] Chr1:183574582 [GRCh38]
Chr1:183543717 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.609+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002043024] Chr1:183573184 [GRCh38]
Chr1:183542319 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.1000+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001966085] Chr1:183565703 [GRCh38]
Chr1:183534838 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.977C>T (p.Pro326Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001912406] Chr1:183565727 [GRCh38]
Chr1:183534862 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.856-6C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002023803] Chr1:183566994 [GRCh38]
Chr1:183536129 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.311A>G (p.Asn104Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002041372] Chr1:183577654 [GRCh38]
Chr1:183546789 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
NM_000433.4(NCF2):c.298C>A (p.Gln100Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001886123] Chr1:183577667 [GRCh38]
Chr1:183546802 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001888511] Chr1:183563450 [GRCh38]
Chr1:183532585 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.1555T>G (p.Leu519Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002020036] Chr1:183556144 [GRCh38]
Chr1:183525279 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.289G>C (p.Ala97Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002030953] Chr1:183577676 [GRCh38]
Chr1:183546811 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1569_1573del (p.Arg524fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001974317] Chr1:183556126..183556130 [GRCh38]
Chr1:183525261..183525265 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1291-16C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001944299] Chr1:183560289 [GRCh38]
Chr1:183529424 [GRCh37]
Chr1:1q25.3
likely benign|uncertain significance
NM_000433.4(NCF2):c.737G>A (p.Arg246His) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001896955] Chr1:183567322 [GRCh38]
Chr1:183536457 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.714-5T>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002038644] Chr1:183567350 [GRCh38]
Chr1:183536485 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.613G>A (p.Val205Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002033578]|not provided [RCV002086727] Chr1:183570836 [GRCh38]
Chr1:183539971 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.859G>C (p.Gly287Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001887008] Chr1:183566985 [GRCh38]
Chr1:183536120 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.811AAG[1] (p.Lys272del) microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001923923] Chr1:183567243..183567245 [GRCh38]
Chr1:183536378..183536380 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1544C>T (p.Ala515Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001875630] Chr1:183556155 [GRCh38]
Chr1:183525290 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.175G>A (p.Ala59Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001907238] Chr1:183586977 [GRCh38]
Chr1:183556112 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.669+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001978022] Chr1:183570779 [GRCh38]
Chr1:183539914 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.175-5C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001954461] Chr1:183586982 [GRCh38]
Chr1:183556117 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1427T>C (p.Leu476Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001881117] Chr1:183560137 [GRCh38]
Chr1:183529272 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.443C>A (p.Thr148Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002048797] Chr1:183574545 [GRCh38]
Chr1:183543680 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.10:g.(?_179520308)_(183559464_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3
uncertain significance
NM_000433.4(NCF2):c.1156C>T (p.Arg386Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002013180] Chr1:183563456 [GRCh38]
Chr1:183532591 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.280C>T (p.Leu94Phe) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002027444] Chr1:183577685 [GRCh38]
Chr1:183546820 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001980239]|Inborn genetic diseases [RCV002592582] Chr1:183560102 [GRCh38]
Chr1:183529237 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1082C>T (p.Thr361Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002032315] Chr1:183563530 [GRCh38]
Chr1:183532665 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1486G>A (p.Glu496Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001999197] Chr1:183556213 [GRCh38]
Chr1:183525348 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.11:g.183586978del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001972801] Chr1:183586977 [GRCh38]
Chr1:183556112 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.312C>A (p.Asn104Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001996352] Chr1:183577653 [GRCh38]
Chr1:183546788 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.872G>C (p.Cys291Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001995469] Chr1:183566972 [GRCh38]
Chr1:183536107 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.743T>G (p.Leu248Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002036543] Chr1:183567316 [GRCh38]
Chr1:183536451 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.211G>T (p.Ala71Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001997319] Chr1:183586941 [GRCh38]
Chr1:183556076 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1284C>G (p.Asn428Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001952038] Chr1:183563201 [GRCh38]
Chr1:183532336 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.10:g.(?_183543602)_(183543776_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV001956547] Chr1:183543602..183543776 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.856-16T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002169852] Chr1:183567004 [GRCh38]
Chr1:183536139 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.367-17_367-16delinsAA indel Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002109060] Chr1:183574637..183574638 [GRCh38]
Chr1:183543772..183543773 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.925-19C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002128686] Chr1:183565798 [GRCh38]
Chr1:183534933 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.595C>T (p.Leu199=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002128980] Chr1:183573199 [GRCh38]
Chr1:183542334 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.367-18C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002129599] Chr1:183574639 [GRCh38]
Chr1:183543774 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.175-13C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002128302] Chr1:183586990 [GRCh38]
Chr1:183556125 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.1026+12C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002188606] Chr1:183563993 [GRCh38]
Chr1:183533128 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.924+20T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002112190] Chr1:183566900 [GRCh38]
Chr1:183536035 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.925-6C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002147851] Chr1:183565785 [GRCh38]
Chr1:183534920 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.367-17G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002071341] Chr1:183574638 [GRCh38]
Chr1:183543773 [GRCh37]
Chr1:1q25.3
benign
NM_000433.4(NCF2):c.687C>T (p.Pro229=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002086926] Chr1:183569168 [GRCh38]
Chr1:183538303 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1291-13T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002092172] Chr1:183560286 [GRCh38]
Chr1:183529421 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1254A>G (p.Lys418=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002214684] Chr1:183563231 [GRCh38]
Chr1:183532366 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1206G>A (p.Leu402=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002150488] Chr1:183563279 [GRCh38]
Chr1:183532414 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.945C>T (p.Ser315=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002212388] Chr1:183565759 [GRCh38]
Chr1:183534894 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.501+20A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002114162] Chr1:183574467 [GRCh38]
Chr1:183543602 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.502-17C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002209055] Chr1:183573309 [GRCh38]
Chr1:183542444 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1178+20C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002116241] Chr1:183563414 [GRCh38]
Chr1:183532549 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.174+20T>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002207956] Chr1:183590136 [GRCh38]
Chr1:183559271 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1224C>T (p.Asp408=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003089114]|not provided [RCV002211127] Chr1:183563261 [GRCh38]
Chr1:183532396 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.502-16G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002112559] Chr1:183573308 [GRCh38]
Chr1:183542443 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.834C>A (p.Ala278=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002168988] Chr1:183567225 [GRCh38]
Chr1:183536360 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1257C>T (p.Asn419=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002193439] Chr1:183563228 [GRCh38]
Chr1:183532363 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1290+15G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002174532] Chr1:183563180 [GRCh38]
Chr1:183532315 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1290+16G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002176951] Chr1:183563179 [GRCh38]
Chr1:183532314 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.174+16T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002177112] Chr1:183590140 [GRCh38]
Chr1:183559275 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.855+20del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002197709] Chr1:183567184 [GRCh38]
Chr1:183536319 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.258-9G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002176291] Chr1:183577716 [GRCh38]
Chr1:183546851 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.849C>T (p.Asn283=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002200777] Chr1:183567210 [GRCh38]
Chr1:183536345 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.855+8G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002201284] Chr1:183567196 [GRCh38]
Chr1:183536331 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.330G>A (p.Lys110=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002200428] Chr1:183577635 [GRCh38]
Chr1:183546770 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.175-9T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002142290] Chr1:183586986 [GRCh38]
Chr1:183556121 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.502-17C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002218013] Chr1:183573309 [GRCh38]
Chr1:183542444 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1438del (p.Glu480fs) deletion Chronic granulomatous disease [RCV002223034] Chr1:183560126 [GRCh38]
Chr1:183529261 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.714-6C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002099637] Chr1:183567351 [GRCh38]
Chr1:183536486 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1515T>C (p.Ile505=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002144390] Chr1:183556184 [GRCh38]
Chr1:183525319 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1074C>T (p.Tyr358=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002219009] Chr1:183563538 [GRCh38]
Chr1:183532673 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1053C>T (p.Pro351=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002102251] Chr1:183563559 [GRCh38]
Chr1:183532694 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.348C>T (p.Phe116=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002140871] Chr1:183577617 [GRCh38]
Chr1:183546752 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1000+13G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002154559] Chr1:183565691 [GRCh38]
Chr1:183534826 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1062C>T (p.Leu354=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002135873] Chr1:183563550 [GRCh38]
Chr1:183532685 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.501+19C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002181823] Chr1:183574468 [GRCh38]
Chr1:183543603 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.856-18T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002142746] Chr1:183567006 [GRCh38]
Chr1:183536141 [GRCh37]
Chr1:1q25.3
likely benign
NC_000001.10:g.(?_183542300)_(183542447_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003111226] Chr1:183542300..183542447 [GRCh37]
Chr1:1q25.3
pathogenic
NC_000001.10:g.(?_183546714)_(183559464_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003111227] Chr1:183546714..183559464 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.10:g.(183529409_183532329)_(183559740_?)dup duplication not specified [RCV002282825] Chr1:183532329..183559740 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.175-1G>A single nucleotide variant not provided [RCV002283201] Chr1:183586978 [GRCh38]
Chr1:183556113 [GRCh37]
Chr1:1q25.3
pathogenic
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 copy number loss not provided [RCV002473949] Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2
pathogenic
NM_000433.4(NCF2):c.394G>C (p.Ala132Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002841959] Chr1:183574594 [GRCh38]
Chr1:183543729 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.608C>T (p.Thr203Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003097609] Chr1:183573186 [GRCh38]
Chr1:183542321 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.757C>T (p.Pro253Ser) single nucleotide variant Inborn genetic diseases [RCV002734524] Chr1:183567302 [GRCh38]
Chr1:183536437 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.964A>G (p.Ser322Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002776611] Chr1:183565740 [GRCh38]
Chr1:183534875 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.921C>T (p.Pro307=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002947810] Chr1:183566923 [GRCh38]
Chr1:183536058 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.502-12T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002690370] Chr1:183573304 [GRCh38]
Chr1:183542439 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.715G>A (p.Ala239Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002617976] Chr1:183567344 [GRCh38]
Chr1:183536479 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3
pathogenic
NM_000433.4(NCF2):c.714-11A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002730251] Chr1:183567356 [GRCh38]
Chr1:183536491 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.759T>C (p.Pro253=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002751555] Chr1:183567300 [GRCh38]
Chr1:183536435 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.566A>G (p.Gln189Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002971142] Chr1:183573228 [GRCh38]
Chr1:183542363 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.756G>C (p.Val252=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002991782] Chr1:183567303 [GRCh38]
Chr1:183536438 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1212C>T (p.Pro404=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002686275] Chr1:183563273 [GRCh38]
Chr1:183532408 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1234G>A (p.Asp412Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002947584] Chr1:183563251 [GRCh38]
Chr1:183532386 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.101A>G (p.Asp34Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002995921] Chr1:183590229 [GRCh38]
Chr1:183559364 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1104C>T (p.Pro368=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003076210] Chr1:183563508 [GRCh38]
Chr1:183532643 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.925-16_925-14del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003016240] Chr1:183565793..183565795 [GRCh38]
Chr1:183534928..183534930 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1550C>T (p.Thr517Ile) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002825438] Chr1:183556149 [GRCh38]
Chr1:183525284 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.495T>C (p.Cys165=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002889451] Chr1:183574493 [GRCh38]
Chr1:183543628 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1065G>C (p.Lys355Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003021717] Chr1:183563547 [GRCh38]
Chr1:183532682 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1319A>C (p.Lys440Thr) single nucleotide variant Inborn genetic diseases [RCV002844751] Chr1:183560245 [GRCh38]
Chr1:183529380 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.999A>G (p.Pro333=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002846997] Chr1:183565705 [GRCh38]
Chr1:183534840 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.259T>C (p.Tyr87His) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002824716] Chr1:183577706 [GRCh38]
Chr1:183546841 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.485C>T (p.Ala162Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003079013] Chr1:183574503 [GRCh38]
Chr1:183543638 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.360C>A (p.Ala120=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002760960] Chr1:183577605 [GRCh38]
Chr1:183546740 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.714-17G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002622651] Chr1:183567362 [GRCh38]
Chr1:183536497 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.780G>A (p.Gln260=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002846841] Chr1:183567279 [GRCh38]
Chr1:183536414 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1029A>G (p.Glu343=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002667392] Chr1:183563583 [GRCh38]
Chr1:183532718 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.289G>A (p.Ala97Thr) single nucleotide variant Inborn genetic diseases [RCV002697478] Chr1:183577676 [GRCh38]
Chr1:183546811 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1468+12T>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002740683] Chr1:183560084 [GRCh38]
Chr1:183529219 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1501G>A (p.Gly501Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002624494] Chr1:183556198 [GRCh38]
Chr1:183525333 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.728del (p.Glu243fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002664194] Chr1:183567331 [GRCh38]
Chr1:183536466 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.544C>T (p.Leu182=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002889994] Chr1:183573250 [GRCh38]
Chr1:183542385 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1236T>G (p.Asp412Glu) single nucleotide variant Inborn genetic diseases [RCV002919291] Chr1:183563249 [GRCh38]
Chr1:183532384 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.609+13G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003006321] Chr1:183573172 [GRCh38]
Chr1:183542307 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1168A>G (p.Thr390Ala) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003082261] Chr1:183563444 [GRCh38]
Chr1:183532579 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1468+19C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002871823] Chr1:183560077 [GRCh38]
Chr1:183529212 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.68A>T (p.Lys23Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002766342] Chr1:183590262 [GRCh38]
Chr1:183559397 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1284C>T (p.Asn428=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002805607] Chr1:183563201 [GRCh38]
Chr1:183532336 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.501+4A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002741561] Chr1:183574483 [GRCh38]
Chr1:183543618 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.222C>T (p.Tyr74=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002875596] Chr1:183586930 [GRCh38]
Chr1:183556065 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.930A>T (p.Glu310Asp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003081999] Chr1:183565774 [GRCh38]
Chr1:183534909 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.129_130delinsCT (p.Gly44Cys) indel Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002643164] Chr1:183590200..183590201 [GRCh38]
Chr1:183559335..183559336 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.502-18A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003048293] Chr1:183573310 [GRCh38]
Chr1:183542445 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.4T>G (p.Ser2Ala) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003091115] Chr1:183590326 [GRCh38]
Chr1:183559461 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.855+10G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003031921] Chr1:183567194 [GRCh38]
Chr1:183536329 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1437G>T (p.Gln479His) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003047153] Chr1:183560127 [GRCh38]
Chr1:183529262 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.345G>C (p.Gln115His) single nucleotide variant Inborn genetic diseases [RCV002792607] Chr1:183577620 [GRCh38]
Chr1:183546755 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1027-6A>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003061429] Chr1:183563591 [GRCh38]
Chr1:183532726 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.574C>T (p.Gln192Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002648228] Chr1:183573220 [GRCh38]
Chr1:183542355 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.488T>C (p.Met163Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002833919] Chr1:183574500 [GRCh38]
Chr1:183543635 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.958C>G (p.Pro320Ala) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002629578] Chr1:183565746 [GRCh38]
Chr1:183534881 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.65G>A (p.Trp22Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002671990] Chr1:183590265 [GRCh38]
Chr1:183559400 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.855+15A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002899677] Chr1:183567189 [GRCh38]
Chr1:183536324 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1491G>A (p.Gly497=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002898858] Chr1:183556208 [GRCh38]
Chr1:183525343 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1000+8G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003090814] Chr1:183565696 [GRCh38]
Chr1:183534831 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.1520C>G (p.Pro507Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003011569] Chr1:183556179 [GRCh38]
Chr1:183525314 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.172_174del (p.Lys58del) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002648229] Chr1:183590156..183590158 [GRCh38]
Chr1:183559291..183559293 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.259T>A (p.Tyr87Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003065698] Chr1:183577706 [GRCh38]
Chr1:183546841 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1190G>A (p.Arg397Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002604952] Chr1:183563295 [GRCh38]
Chr1:183532430 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1523_1524del (p.Lys508fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002583865] Chr1:183556175..183556176 [GRCh38]
Chr1:183525310..183525311 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.855+20_855+23del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002655035] Chr1:183567181..183567184 [GRCh38]
Chr1:183536316..183536319 [GRCh37]
Chr1:1q25.3
likely benign
NM_000433.4(NCF2):c.338G>A (p.Gly113Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003051723] Chr1:183577627 [GRCh38]
Chr1:183546762 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.596T>A (p.Leu199Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002814461] Chr1:183573198 [GRCh38]
Chr1:183542333 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.173A>G (p.Lys58Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002586633] Chr1:183590157 [GRCh38]
Chr1:183559292 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.417del (p.Ala140fs) deletion Chronic granulomatous disease [RCV003155833] Chr1:183574571 [GRCh38]
Chr1:183543706 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.944C>A (p.Ser315Tyr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV003132857] Chr1:183565760 [GRCh38]
Chr1:183534895 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter) single nucleotide variant Chronic granulomatous disease [RCV003226674] Chr1:183574488 [GRCh38]
Chr1:183543623 [GRCh37]
Chr1:1q25.3
likely pathogenic
NM_000433.4(NCF2):c.887C>A (p.Pro296Gln) single nucleotide variant Inborn genetic diseases [RCV003287234] Chr1:183566957 [GRCh38]
Chr1:183536092 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter) single nucleotide variant Chronic granulomatous disease [RCV003331828] Chr1:183563513 [GRCh38]
Chr1:183532648 [GRCh37]
Chr1:1q25.3
pathogenic
NM_000433.4(NCF2):c.922C>T (p.Gln308Ter) single nucleotide variant NCF2-related condition [RCV003403065] Chr1:183566922 [GRCh38]
Chr1:183536057 [GRCh37]
Chr1:1q25.3
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1365
Count of miRNA genes:464
Interacting mature miRNAs:506
Transcripts:ENST00000367535, ENST00000367536, ENST00000413720, ENST00000418089, ENST00000419402, ENST00000420553, ENST00000469280
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
Ncf2-rs  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,524,627 - 183,524,848UniSTSGRCh37
Build 361181,791,250 - 181,791,471RGDNCBI36
Celera1156,635,677 - 156,635,898RGD
HuRef1154,760,493 - 154,760,714UniSTS
PMC197251P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,536,096 - 183,536,390UniSTSGRCh37
Build 361181,802,719 - 181,803,013RGDNCBI36
Celera1156,647,130 - 156,647,424RGD
Cytogenetic Map1q25UniSTS
HuRef1154,771,947 - 154,772,241UniSTS
SHGC-76057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,524,807 - 183,524,913UniSTSGRCh37
Build 361181,791,430 - 181,791,536RGDNCBI36
Celera1156,635,857 - 156,635,963RGD
Cytogenetic Map1q25UniSTS
HuRef1154,760,673 - 154,760,779UniSTS
TNG Radiation Hybrid Map187136.0UniSTS
GeneMap99-GB4 RH Map1641.64UniSTS
SHGC-76025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,546,547 - 183,546,867UniSTSGRCh37
Build 361181,813,170 - 181,813,490RGDNCBI36
Celera1156,657,581 - 156,657,901RGD
Cytogenetic Map1q25UniSTS
HuRef1154,782,398 - 154,782,718UniSTS
TNG Radiation Hybrid Map187136.0UniSTS
GeneMap99-GB4 RH Map1637.39UniSTS
RH11087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,558,891 - 183,559,306UniSTSGRCh37
Build 361181,825,514 - 181,825,929RGDNCBI36
Celera1156,669,923 - 156,670,338RGD
Cytogenetic Map1q25UniSTS
HuRef1154,794,742 - 154,795,157UniSTS
GeneMap99-GB4 RH Map1629.33UniSTS
NCBI RH Map11565.2UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS


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 222 225 1
Medium 350 1095 182 120 1466 85 1985 105 373 109 208 773 47 938 1013 2
Low 2034 1645 1527 495 210 372 2033 1943 2857 280 1189 743 122 266 1682 1
Below cutoff 38 22 12 6 42 6 271 122 464 22 48 73 1 93

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF527950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW951155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM979513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP193903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ029626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU617086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA420141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA817767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC358267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ517931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ662934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M32011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000367535   ⟹   ENSP00000356505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,555,562 - 183,590,459 (-)Ensembl
RefSeq Acc Id: ENST00000367536   ⟹   ENSP00000356506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,555,563 - 183,590,876 (-)Ensembl
RefSeq Acc Id: ENST00000413720   ⟹   ENSP00000399294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,555,563 - 183,590,604 (-)Ensembl
RefSeq Acc Id: ENST00000418089   ⟹   ENSP00000407217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,555,563 - 183,590,604 (-)Ensembl