NCF4 (neutrophil cytosolic factor 4)

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Gene: NCF4 (neutrophil cytosolic factor 4) Homo sapiens

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Symbol:

NCF4

Name:

neutrophil cytosolic factor 4

RGD ID:

1314271

HGNC Page

HGNC:7662

Description:

Enables phosphatidylinositol-3-phosphate binding activity and superoxide-generating NADPH oxidase activator activity. Involved in superoxide anion generation. Located in cytosol and endosome membrane. Part of NADPH oxidase complex. Implicated in autosomal recessive chronic granulomatous disease 3 and rheumatoid arthritis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CGD3; MGC3810; NCF; NCF-4; neutrophil cytosol factor 4; neutrophil cytosolic factor 4, 40kDa; neutrophil NADPH oxidase factor 4; p40-phox; P40PHOX; SH3 and PX domain-containing protein 4; SH3PXD4

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ncf4 (neutrophil cytosolic factor 4)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Rattus norvegicus (Norway rat):	Ncf4 (neutrophil cytosolic factor 4)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Ncf4 (neutrophil cytosolic factor 4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NCF4 (neutrophil cytosolic factor 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	NCF4 (neutrophil cytosolic factor 4)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ncf4 (neutrophil cytosolic factor 4)	NCBI	Ortholog
Sus scrofa (pig):	NCF4 (neutrophil cytosolic factor 4)	HGNC	Ensembl, NCBI, OMA, Panther
Chlorocebus sabaeus (green monkey):	NCF4 (neutrophil cytosolic factor 4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ncf4 (neutrophil cytosolic factor 4)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Ncf4 (neutrophil cytosolic factor 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Ncf4 (neutrophil cytosolic factor 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ncf4 (neutrophil cytosolic factor 4)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	BEM1	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Xenopus laevis (African clawed frog):	ncf4.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	ncf4.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ncf4	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	36,861,006 - 36,878,015 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	36,860,988 - 36,878,017 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	37,257,048 - 37,274,057 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	35,586,991 - 35,604,005 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	35,581,544 - 35,598,558	NCBI
Celera	22	21,054,984 - 21,075,404 (+)	NCBI		Celera
Cytogenetic Map	22	q12.3	NCBI
HuRef	22	20,219,193 - 20,235,709 (+)	NCBI		HuRef
CHM1_1	22	37,215,777 - 37,232,815 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	37,316,866 - 37,336,974 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adenylosuccinase lyase deficiency (IAGP)

autosomal recessive chronic granulomatous disease 3 (IAGP)

chronic granulomatous disease (IAGP)

Crohn's disease (EXP)

Emery-Dreifuss muscular dystrophy (IAGP)

heart disease (EXP)

myoclonic dystonia 26 (IAGP)

neurodegeneration with brain iron accumulation 2A (IAGP)

rheumatoid arthritis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (EXP)

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

17beta-estradiol 3-benzoate (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (EXP)

2,3',4,4',5-Pentachlorobiphenyl (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-diaminotoluene (ISO)

3,3',4,4',5-pentachlorobiphenyl (EXP)

4,4'-diaminodiphenylmethane (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

AICA ribonucleotide (ISO)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (EXP)

amitrole (ISO)

amphetamine (ISO)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

Benzo[k]fluoranthene (ISO)

bisphenol A (EXP,ISO)

bortezomib (EXP)

buta-1,3-diene (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

cadmium sulfate (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

chlorpyrifos (ISO)

choline (ISO)

chromium(6+) (EXP)

cocaine (ISO)

copper atom (ISO)

copper(0) (ISO)

crocidolite asbestos (ISO)

Cuprizon (ISO)

D-glucose (ISO)

DDE (EXP)

Dibutyl phosphate (EXP)

diclofenac (ISO)

dioxygen (ISO)

diuron (EXP)

ethyl methanesulfonate (EXP)

folic acid (ISO)

fructose (ISO)

fulvestrant (EXP)

glucose (ISO)

indometacin (ISO)

L-methionine (ISO)

manganese(II) chloride (ISO)

methapyrilene (EXP)

methimazole (ISO)

methotrexate (EXP)

microcystin-LR (ISO)

N-acetyl-L-cysteine (ISO)

N-formyl-L-methionyl-L-leucyl-L-phenylalanine (ISO)

nickel atom (EXP)

ozone (EXP,ISO)

paracetamol (ISO)

paraquat (EXP)

pirinixic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

quercetin (EXP)

senecionine (ISO)

silicon dioxide (ISO)

sirolimus (ISO)

sodium dichromate (EXP)

Soman (ISO)

sulfadimethoxine (ISO)

tamoxifen (ISO)

tert-butyl hydroperoxide (ISO)

testosterone (ISO)

Theaflavin 3,3'-digallate (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

phagocytosis (IEA)

respiratory burst (IEA,NAS)

superoxide anion generation (IBA,IMP)

Cellular Component

cytoplasm (IBA,IEA)

cytosol (IDA,IEA,TAS)

endosome (IEA)

endosome membrane (IDA,IEA)

membrane (IDA,IEA)

NADPH oxidase complex (IBA,IDA,IEA,NAS)

phagolysosome (TAS)

plasma membrane (NAS)

Molecular Function

lipid binding (IEA)

phosphatidylinositol binding (IEA)

phosphatidylinositol-3-phosphate binding (IDA)

protein binding (IPI)

superoxide-generating NADPH oxidase activator activity (IBA,IEA,IMP)

Molecular Pathway Annotations Click to see Annotation Detail View

Leishmaniasis pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abdominal pain (IAGP)

Abnormality of neutrophils (IAGP)

Anoperineal fistula (IAGP)

Autosomal recessive inheritance (IAGP)

Childhood onset (IAGP)

Chronic pulmonary obstruction (IAGP)

Colitis (IAGP)

Cutaneous photosensitivity (IAGP)

Diarrhea (IAGP)

Eczematoid dermatitis (IAGP)

Elevated circulating C-reactive protein concentration (IAGP)

Elevated erythrocyte sedimentation rate (IAGP)

Fever (IAGP)

Gingivitis (IAGP)

Hepatomegaly (IAGP)

Hypermelanotic macule (IAGP)

Inflammatory abnormality of the eye (IAGP)

Liver abscess (IAGP)

Macule (IAGP)

Malabsorption (IAGP)

Mediastinal lymphadenopathy (IAGP)

Meningitis (IAGP)

Otitis media (IAGP)

Perioral eczema (IAGP)

Pyloric stenosis (IAGP)

Recurrent aphthous stomatitis (IAGP)

Recurrent infections (IAGP)

Recurrent respiratory infections (IAGP)

Recurrent sinusitis (IAGP)

Sepsis (IAGP)

Sinusitis (IAGP)

Skin ulcer (IAGP)

Splenomegaly (IAGP)

Tracheoesophageal fistula (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	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.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:243433	PMID:7938008	PMID:8125298	PMID:8147882	PMID:8280052	PMID:8670049	PMID:8839867	PMID:8982388	PMID:9083043	PMID:9365277	PMID:9370364	PMID:9804763
PMID:9914162	PMID:10397171	PMID:10437784	PMID:10591208	PMID:10672014	PMID:11258927	PMID:11433300	PMID:11433301	PMID:11483497	PMID:11684018	PMID:11716484	PMID:11796733
PMID:11893732	PMID:11903052	PMID:11917128	PMID:12036891	PMID:12065324	PMID:12356722	PMID:12456638	PMID:12477932	PMID:12556460	PMID:12813044	PMID:12887891	PMID:15035643
PMID:15461802	PMID:15489334	PMID:15657040	PMID:16102984	PMID:16297854	PMID:16608528	PMID:16782902	PMID:16880255	PMID:17698849	PMID:18580884	PMID:18711001	PMID:18755982
PMID:18807499	PMID:19262523	PMID:19372141	PMID:19423521	PMID:19423540	PMID:19505917	PMID:19692703	PMID:19913121	PMID:20056178	PMID:20167518	PMID:20406964	PMID:20438785
PMID:20628086	PMID:20637895	PMID:21122541	PMID:21472827	PMID:21518975	PMID:21873635	PMID:21956105	PMID:22158027	PMID:22197932	PMID:22876374	PMID:22984083	PMID:23576480
PMID:23982929	PMID:24378533	PMID:24453475	PMID:24598074	PMID:26289093	PMID:27048830	PMID:28096301	PMID:29311151	PMID:29969437	PMID:30397336	PMID:33145364	PMID:34708124
PMID:38085396	PMID:38886341

Genomics

Comparative Map Data

NCF4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	36,861,006 - 36,878,015 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	36,860,988 - 36,878,017 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	37,257,048 - 37,274,057 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	35,586,991 - 35,604,005 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	35,581,544 - 35,598,558	NCBI
Celera	22	21,054,984 - 21,075,404 (+)	NCBI		Celera
Cytogenetic Map	22	q12.3	NCBI
HuRef	22	20,219,193 - 20,235,709 (+)	NCBI		HuRef
CHM1_1	22	37,215,777 - 37,232,815 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	37,316,866 - 37,336,974 (+)	NCBI		T2T-CHM13v2.0

Ncf4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	78,128,324 - 78,146,782 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	78,129,001 - 78,146,780 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	78,244,164 - 78,262,582 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	78,244,801 - 78,262,580 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	78,075,241 - 78,093,010 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	78,072,089 - 78,089,829 (+)	NCBI		MGSCv36	mm8
Celera	15	79,705,722 - 79,723,507 (+)	NCBI		Celera
Cytogenetic Map	15	E1	NCBI
cM Map	15	37.1	NCBI

Ncf4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	111,705,926 - 111,723,893 (+)	NCBI		GRCr8
mRatBN7.2	7	109,825,420 - 109,843,389 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	109,826,020 - 109,843,389 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	111,575,804 - 111,592,610 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	113,799,365 - 113,816,171 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	113,768,035 - 113,784,810 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	119,481,711 - 119,499,426 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	119,482,272 - 119,499,425 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	119,473,732 - 119,490,872 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	116,167,621 - 116,190,630 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	106,165,444 - 106,181,739 (+)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Ncf4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955413	23,388,018 - 23,408,090 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	23,388,456 - 23,405,121 (+)	NCBI	ChiLan1.0	ChiLan1.0

NCF4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	23	46,715,341 - 46,735,474 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	49,406,644 - 49,426,776 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	17,775,590 - 17,795,725 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	35,611,589 - 35,631,400 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	35,611,589 - 35,631,400 (+)	Ensembl	panpan1.1		panPan2

NCF4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	27,597,296 - 27,672,199 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	27,597,486 - 27,615,261 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	27,551,611 - 27,626,188 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	28,389,229 - 28,463,826 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	28,389,225 - 28,407,201 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	28,110,753 - 28,185,319 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	28,419,256 - 28,493,843 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	28,598,068 - 28,672,687 (-)	NCBI		UU_Cfam_GSD_1.0

Ncf4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	10,991,297 - 11,005,134 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	4,001,898 - 4,010,456 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	4,001,711 - 4,015,253 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NCF4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	10,874,953 - 10,994,014 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	10,876,147 - 10,994,002 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	8,477,878 - 8,593,943 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NCF4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	19	19,560,047 - 19,579,342 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	19,566,562 - 19,579,352 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	106,283,752 - 106,303,762 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ncf4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624752	10,901,934 - 10,918,106 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	10,902,035 - 10,918,183 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NCF4
347 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000631.5(NCF4):c.143_152del (p.Lys48fs)	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000023112]	Chr22:36864944..36864953 [GRCh38] Chr22:37260986..37260995 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)	single nucleotide variant	Chronic granulomatous disease [RCV000208606]\|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000023113]	Chr22:36867434 [GRCh38] Chr22:37263476 [GRCh37] Chr22:22q12.3	pathogenic\|not provided
NM_000631.5(NCF4):c.343-4A>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000546566]\|NCF4-related disorder [RCV003915594]\|not provided [RCV001702803]	Chr22:36870411 [GRCh38] Chr22:37266453 [GRCh37] Chr22:22q12.3	benign\|likely benign
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	copy number loss	See cases [RCV000051364]	Chr22:35333993..38900177 [GRCh38] Chr22:35729986..39296182 [GRCh37] Chr22:34059986..37626128 [NCBI36] Chr22:22q12.3-13.1	pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	copy number loss	See cases [RCV000051365]	Chr22:36552376..37669915 [GRCh38] Chr22:36948423..38065922 [GRCh37] Chr22:35278369..36395868 [NCBI36] Chr22:22q12.3-13.1	pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]\|See cases [RCV000051366]	Chr22:36859030..39236985 [GRCh38] Chr22:37255072..39632990 [GRCh37] Chr22:35585018..37962936 [NCBI36] Chr22:22q12.3-13.1	pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3	copy number gain	See cases [RCV000051683]	Chr22:36068124..38002382 [GRCh38] Chr22:36464172..38398389 [GRCh37] Chr22:34794118..36728335 [NCBI36] Chr22:22q12.3-13.1	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
NM_000631.5(NCF4):c.528+16A>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001511734]\|not provided [RCV001668344]\|not specified [RCV000179472]	Chr22:36871725 [GRCh38] Chr22:37267767 [GRCh37] Chr22:22q12.3	benign
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	copy number gain	See cases [RCV000137926]	Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3	copy number gain	See cases [RCV000446037]	Chr22:37090025..39601950 [GRCh37] Chr22:22q12.3-13.1	uncertain significance
GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	copy number loss	See cases [RCV000207444]	Chr22:35680095..38098981 [GRCh37] Chr22:22q12.3-13.1	pathogenic
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs)	duplication	Chronic granulomatous disease [RCV000208597]\|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003525880]	Chr22:36864943..36864944 [GRCh38] Chr22:37260985..37260986 [GRCh37] Chr22:22q12.3	pathogenic\|not provided
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_000631.5(NCF4):c.528+18G>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001519423]\|not provided [RCV001660311]\|not specified [RCV000248741]	Chr22:36871727 [GRCh38] Chr22:37267769 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.628-14C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001522871]\|not provided [RCV001753726]\|not specified [RCV000253632]	Chr22:36875639 [GRCh38] Chr22:37271681 [GRCh37] Chr22:22q12.3	benign\|likely benign\|uncertain significance
NM_000631.5(NCF4):c.897G>A (p.Ser299=)	single nucleotide variant	not provided [RCV001698756]\|not specified [RCV000253806]	Chr22:36877700 [GRCh38] Chr22:37273742 [GRCh37] Chr22:22q12.3	benign
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
NM_000631.5(NCF4):c.69G>A (p.Ser23=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000535000]\|NCF4-related disorder [RCV003891943]\|not provided [RCV001683067]	Chr22:36864081 [GRCh38] Chr22:37260123 [GRCh37] Chr22:22q12.3	benign\|likely benign
NM_000631.5(NCF4):c.735C>T (p.Tyr245=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001510886]\|not provided [RCV001675734]\|not specified [RCV000250195]	Chr22:36875760 [GRCh38] Chr22:37271802 [GRCh37] Chr22:22q12.3	benign\|likely benign
NM_000631.5(NCF4):c.758+57T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000990434]\|not provided [RCV001640545]\|not specified [RCV000253146]	Chr22:36875840 [GRCh38] Chr22:37271882 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.442C>T (p.Arg148Cys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001889886]	Chr22:36870514 [GRCh38] Chr22:37266556 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.271+6C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648870]\|NCF4-related disorder [RCV003932373]	Chr22:36865078 [GRCh38] Chr22:37261120 [GRCh37] Chr22:22q12.3	likely benign\|uncertain significance
NM_000631.5(NCF4):c.*172A>C	single nucleotide variant	Chronic granulomatous disease [RCV000357811]	Chr22:36877995 [GRCh38] Chr22:37274037 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.478G>A (p.Val160Met)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001084350]\|NCF4-related disorder [RCV003912439]\|not provided [RCV000762071]\|not specified [RCV000596467]	Chr22:36871659 [GRCh38] Chr22:37267701 [GRCh37] Chr22:22q12.3	benign\|likely benign\|uncertain significance
NM_000631.5(NCF4):c.63C>T (p.Ala21=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000558824]\|not provided [RCV001691972]	Chr22:36864075 [GRCh38] Chr22:37260117 [GRCh37] Chr22:22q12.3	benign\|likely benign
NM_000631.5(NCF4):c.733T>C (p.Tyr245His)	single nucleotide variant	Chronic granulomatous disease [RCV000261298]	Chr22:36875758 [GRCh38] Chr22:37271800 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.-95C>T	single nucleotide variant	not provided [RCV001753140]	Chr22:36861077 [GRCh38] Chr22:37257119 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.825G>T (p.Arg275Ser)	single nucleotide variant	Chronic granulomatous disease [RCV000280654]	Chr22:36877628 [GRCh38] Chr22:37273670 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.-37G>A	single nucleotide variant	not provided [RCV001678197]	Chr22:36861135 [GRCh38] Chr22:37257177 [GRCh37] Chr22:22q12.3	benign\|likely benign
NM_000631.5(NCF4):c.647C>T (p.Thr216Met)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648869]\|NCF4-related disorder [RCV003409547]\|not specified [RCV003155166]	Chr22:36875672 [GRCh38] Chr22:37271714 [GRCh37] Chr22:22q12.3	likely benign\|uncertain significance
NM_000631.5(NCF4):c.240T>C (p.Ser80=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648874]\|not provided [RCV001753804]	Chr22:36865041 [GRCh38] Chr22:37261083 [GRCh37] Chr22:22q12.3	benign\|likely benign\|uncertain significance
NM_000631.5(NCF4):c.826C>T (p.Arg276Trp)	single nucleotide variant	Chronic granulomatous disease [RCV000330906]	Chr22:36877629 [GRCh38] Chr22:37273671 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.960C>T (p.Phe320=)	single nucleotide variant	not provided [RCV001709346]	Chr22:36877763 [GRCh38] Chr22:37273805 [GRCh37] Chr22:22q12.3	benign\|likely benign
NM_000631.5(NCF4):c.28G>A (p.Glu10Lys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001233497]	Chr22:36861199 [GRCh38] Chr22:37257241 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.33-6G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001078876]\|not provided [RCV000591438]	Chr22:36864039 [GRCh38] Chr22:37260081 [GRCh37] Chr22:22q12.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000631.5(NCF4):c.180C>T (p.Arg60=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001904531]	Chr22:36864981 [GRCh38] Chr22:37261023 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.940C>A (p.Pro314Thr)	single nucleotide variant	Chronic granulomatous disease [RCV000407396]	Chr22:36877743 [GRCh38] Chr22:37273785 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.923G>A (p.Arg308Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002895830]	Chr22:36877726 [GRCh38] Chr22:37273768 [GRCh37] Chr22:22q12.3	likely benign\|uncertain significance
NM_000631.5(NCF4):c.271+7G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648876]\|not provided [RCV001701839]\|not specified [RCV000326099]	Chr22:36865079 [GRCh38] Chr22:37261121 [GRCh37] Chr22:22q12.3	benign\|likely benign
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648873]\|not provided [RCV001764253]\|not specified [RCV000326109]	Chr22:36865055 [GRCh38] Chr22:37261097 [GRCh37] Chr22:22q12.3	benign\|likely benign
NM_000631.5(NCF4):c.655T>C (p.Phe219Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001071442]	Chr22:36875680 [GRCh38] Chr22:37271722 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.1011G>A (p.Thr337=)	single nucleotide variant	not provided [RCV001640895]	Chr22:36877814 [GRCh38] Chr22:37273856 [GRCh37] Chr22:22q12.3	benign\|likely benign
NM_000631.5(NCF4):c.270A>T (p.Pro90=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001305827]	Chr22:36865071 [GRCh38] Chr22:37261113 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.934G>T (p.Gly312Cys)	single nucleotide variant	Chronic granulomatous disease [RCV000350593]	Chr22:36877737 [GRCh38] Chr22:37273779 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.*23T>C	single nucleotide variant	Chronic granulomatous disease [RCV000407400]	Chr22:36877846 [GRCh38] Chr22:37273888 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.118-1G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001200053]\|not provided [RCV000488142]	Chr22:36864918 [GRCh38] Chr22:37260960 [GRCh37] Chr22:22q12.3	pathogenic\|likely pathogenic
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000968901]\|NCF4-related disorder [RCV003905544]\|not provided [RCV001509096]\|not specified [RCV000595538]	Chr22:36864973 [GRCh38] Chr22:37261015 [GRCh37] Chr22:22q12.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000631.5(NCF4):c.*171A>T	single nucleotide variant	Chronic granulomatous disease [RCV000303045]	Chr22:36877994 [GRCh38] Chr22:37274036 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.-114C>T	single nucleotide variant	Chronic granulomatous disease [RCV000341361]	Chr22:36861058 [GRCh38] Chr22:37257100 [GRCh37] Chr22:22q12.3	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	copy number loss	See cases [RCV000512008]	Chr22:36877226..38548989 [GRCh37] Chr22:22q12.3-13.1	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_000631.5(NCF4):c.497G>T (p.Ser166Ile)	single nucleotide variant	not specified [RCV004313024]	Chr22:36871678 [GRCh38] Chr22:37267720 [GRCh37] Chr22:22q12.3	uncertain significance
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	copy number gain	See cases [RCV000512385]	Chr22:35674826..39466442 [GRCh37] Chr22:22q12.3-13.1	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_000631.5(NCF4):c.463C>A (p.Arg155=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648863]	Chr22:36870535 [GRCh38] Chr22:37266577 [GRCh37] Chr22:22q12.3	likely benign\|uncertain significance
NM_000631.5(NCF4):c.544A>C (p.Thr182Pro)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648864]\|not specified [RCV004025761]	Chr22:36872342 [GRCh38] Chr22:37268384 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.359C>T (p.Pro120Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648865]\|not specified [RCV004025762]	Chr22:36870431 [GRCh38] Chr22:37266473 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+32G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648866]\|not provided [RCV002261157]\|not specified [RCV004025763]	Chr22:36875815 [GRCh38] Chr22:37271857 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-1G>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648867]\|not specified [RCV004689827]	Chr22:36876028 [GRCh38] Chr22:37272070 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.179G>A (p.Arg60His)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648868]\|not provided [RCV000728333]\|not specified [RCV003987645]	Chr22:36864980 [GRCh38] Chr22:37261022 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.306C>T (p.Ala102=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648871]\|NCF4-related disorder [RCV003918058]	Chr22:36867426 [GRCh38] Chr22:37263468 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.456G>A (p.Pro152=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000648875]	Chr22:36870528 [GRCh38] Chr22:37266570 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.388C>T (p.Arg130Trp)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000691127]	Chr22:36870460 [GRCh38] Chr22:37266502 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.397T>C (p.Phe133Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000705788]	Chr22:36870469 [GRCh38] Chr22:37266511 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.553A>G (p.Ser185Gly)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000699803]	Chr22:36872351 [GRCh38] Chr22:37268393 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.562G>C (p.Glu188Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000686446]	Chr22:36872360 [GRCh38] Chr22:37268402 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+51G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000698850]\|not provided [RCV004692158]\|not specified [RCV004026459]	Chr22:36875834 [GRCh38] Chr22:37271876 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.705C>A (p.Asp235Glu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000703287]	Chr22:36875730 [GRCh38] Chr22:37271772 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.463C>G (p.Arg155Gly)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000696380]	Chr22:36870535 [GRCh38] Chr22:37266577 [GRCh37] Chr22:22q12.3	uncertain significance
NC_000022.11:g.(?_36864025)_(36870562_?)del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000708312]	Chr22:36864025..36870562 [GRCh38] Chr22:37260067..37266604 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.272-281GT[20]	microsatellite	not provided [RCV001643659]	Chr22:36867110..36867111 [GRCh38] Chr22:37263152..37263153 [GRCh37] Chr22:22q12.3	benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_000631.5(NCF4):c.272-249_272-248insTGTGTGTGCG	duplication	not provided [RCV001648151]	Chr22:36867142..36867143 [GRCh38] Chr22:37263184..37263185 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.87C>T (p.Ile29=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000918414]	Chr22:36864099 [GRCh38] Chr22:37260141 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.118-206dup	duplication	not provided [RCV001690725]	Chr22:36864703..36864704 [GRCh38] Chr22:37260745..37260746 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.270_271+16del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001045494]	Chr22:36865064..36865081 [GRCh38] Chr22:37261106..37261123 [GRCh37] Chr22:22q12.3	likely pathogenic
NM_000631.5(NCF4):c.33-166C>T	single nucleotide variant	not provided [RCV001612557]	Chr22:36863879 [GRCh38] Chr22:37259921 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.384C>T (p.Asp128=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000905574]\|not provided [RCV004704302]	Chr22:36870456 [GRCh38] Chr22:37266498 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-8C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000921392]	Chr22:36876021 [GRCh38] Chr22:37272063 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.451C>T (p.Arg151Cys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001041089]	Chr22:36870523 [GRCh38] Chr22:37266565 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.798A>G (p.Leu266=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001061938]	Chr22:36876068 [GRCh38] Chr22:37272110 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-6C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001060360]\|not specified [RCV004031916]	Chr22:36876023 [GRCh38] Chr22:37272065 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-97C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001052564]	Chr22:36875932 [GRCh38] Chr22:37271974 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.30G>A (p.Glu10=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001405156]	Chr22:36861201 [GRCh38] Chr22:37257243 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.666C>A (p.Ser222=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001488111]	Chr22:36875691 [GRCh38] Chr22:37271733 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.129C>A (p.Ile43=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000799232]	Chr22:36864930 [GRCh38] Chr22:37260972 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.477C>T (p.Ser159=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000809812]	Chr22:36871658 [GRCh38] Chr22:37267700 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.504C>A (p.Asp168Glu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000818300]	Chr22:36871685 [GRCh38] Chr22:37267727 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.518C>T (p.Pro173Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000805429]	Chr22:36871699 [GRCh38] Chr22:37267741 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.101G>T (p.Gly34Val)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000794699]	Chr22:36864113 [GRCh38] Chr22:37260155 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+50C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000808400]\|not specified [RCV002307622]	Chr22:36875833 [GRCh38] Chr22:37271875 [GRCh37] Chr22:22q12.3	pathogenic\|uncertain significance
NC_000022.11:g.36864921_36864935del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000990433]	Chr22:36864917..36864931 [GRCh38] Chr22:37260959..37260973 [GRCh37] Chr22:22q12.3	likely pathogenic
NM_000631.5(NCF4):c.722G>A (p.Arg241His)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000795817]	Chr22:36875747 [GRCh38] Chr22:37271789 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.747C>A (p.Ile249=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000893571]	Chr22:36875772 [GRCh38] Chr22:37271814 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.50C>T (p.Pro17Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000818793]\|not provided [RCV004584807]\|not specified [RCV004028970]	Chr22:36864062 [GRCh38] Chr22:37260104 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.638G>A (p.Arg213Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000797346]\|not specified [RCV004027593]	Chr22:36875663 [GRCh38] Chr22:37271705 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.458G>A (p.Arg153His)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000817913]	Chr22:36870530 [GRCh38] Chr22:37266572 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.337A>G (p.Met113Val)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000814170]\|not specified [RCV004028810]	Chr22:36867457 [GRCh38] Chr22:37263499 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.703G>A (p.Asp235Asn)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000805262]	Chr22:36875728 [GRCh38] Chr22:37271770 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.145G>A (p.Gly49Arg)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000818749]	Chr22:36864946 [GRCh38] Chr22:37260988 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.539A>C (p.Asp180Ala)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000811098]	Chr22:36872337 [GRCh38] Chr22:37268379 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.122T>A (p.Phe41Tyr)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000795993]	Chr22:36864923 [GRCh38] Chr22:37260965 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.106A>C (p.Thr36Pro)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000990432]	Chr22:36864118 [GRCh38] Chr22:37260160 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.628-3C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001065684]	Chr22:36875650 [GRCh38] Chr22:37271692 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-49C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001202033]	Chr22:36875980 [GRCh38] Chr22:37272022 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.178C>T (p.Arg60Cys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001246430]	Chr22:36864979 [GRCh38] Chr22:37261021 [GRCh37] Chr22:22q12.3	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_000631.5(NCF4):c.118-148A>G	single nucleotide variant	not provided [RCV001715535]	Chr22:36864771 [GRCh38] Chr22:37260813 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.118-284A>G	single nucleotide variant	not provided [RCV001598786]	Chr22:36864635 [GRCh38] Chr22:37260677 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.528+192C>A	single nucleotide variant	not provided [RCV001639384]	Chr22:36871901 [GRCh38] Chr22:37267943 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.628-264C>A	single nucleotide variant	not provided [RCV001639894]	Chr22:36875389 [GRCh38] Chr22:37271431 [GRCh37] Chr22:22q12.3	benign
NC_000022.11:g.36860804G>A	single nucleotide variant	not provided [RCV001680449]	Chr22:36860804 [GRCh38] Chr22:37256846 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.343-339G>A	single nucleotide variant	not provided [RCV001609081]	Chr22:36870076 [GRCh38] Chr22:37266118 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.627+88A>G	single nucleotide variant	not provided [RCV001714075]\|not specified [RCV003487745]	Chr22:36872513 [GRCh38] Chr22:37268555 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.272-281GT[17]	microsatellite	not provided [RCV001694617]	Chr22:36867110..36867111 [GRCh38] Chr22:37263152..37263153 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.117+67_117+87del	deletion	not provided [RCV001616295]\|not specified [RCV003487522]	Chr22:36864181..36864201 [GRCh38] Chr22:37260223..37260243 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.272-281GT[21]	microsatellite	not provided [RCV001673528]	Chr22:36867110..36867111 [GRCh38] Chr22:37263152..37263153 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.799T>C (p.Leu267=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000930373]	Chr22:36876069 [GRCh38] Chr22:37272111 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.705C>T (p.Asp235=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000974746]	Chr22:36875730 [GRCh38] Chr22:37271772 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.33-7C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003525991]	Chr22:36864038 [GRCh38] Chr22:37260080 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.27C>T (p.Ala9=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000908299]	Chr22:36861198 [GRCh38] Chr22:37257240 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.124G>C (p.Val42Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001238668]	Chr22:36864925 [GRCh38] Chr22:37260967 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-7C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001244234]\|not provided [RCV003481025]	Chr22:36876022 [GRCh38] Chr22:37272064 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.217T>G (p.Phe73Val)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001222152]	Chr22:36865018 [GRCh38] Chr22:37261060 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.248C>A (p.Ala83Asp)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001226130]	Chr22:36865049 [GRCh38] Chr22:37261091 [GRCh37] Chr22:22q12.3	uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
NM_000631.5(NCF4):c.716G>A (p.Trp239Ter)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001200054]	Chr22:36875741 [GRCh38] Chr22:37271783 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.32+2T>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001200055]	Chr22:36861205 [GRCh38] Chr22:37257247 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.774G>A (p.Glu258=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001214640]	Chr22:36876044 [GRCh38] Chr22:37272086 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.528+7C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000934388]	Chr22:36871716 [GRCh38] Chr22:37267758 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.796C>T (p.Leu266=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV000912645]	Chr22:36876066 [GRCh38] Chr22:37272108 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.272-281GT[18]	microsatellite	not provided [RCV001619999]	Chr22:36867110..36867111 [GRCh38] Chr22:37263152..37263153 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.529-290A>G	single nucleotide variant	not provided [RCV001649161]	Chr22:36872037 [GRCh38] Chr22:37268079 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.33-1G>A	single nucleotide variant	Chronic granulomatous disease [RCV001553596]	Chr22:36864044 [GRCh38] Chr22:37260086 [GRCh37] Chr22:22q12.3	likely pathogenic
NM_000631.5(NCF4):c.343-337G>A	single nucleotide variant	not provided [RCV001621314]	Chr22:36870078 [GRCh38] Chr22:37266120 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.470+297G>A	single nucleotide variant	not provided [RCV001608323]	Chr22:36870839 [GRCh38] Chr22:37266881 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.529-112C>T	single nucleotide variant	not provided [RCV001688504]\|not specified [RCV003487708]	Chr22:36872215 [GRCh38] Chr22:37268257 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.528+208G>A	single nucleotide variant	not provided [RCV001678002]	Chr22:36871917 [GRCh38] Chr22:37267959 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.824+50G>A	single nucleotide variant	not provided [RCV001649591]	Chr22:36876144 [GRCh38] Chr22:37272186 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.343-135A>G	single nucleotide variant	not provided [RCV001638502]	Chr22:36870280 [GRCh38] Chr22:37266322 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.627+34A>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001779328]\|not provided [RCV001713837]\|not specified [RCV003487744]	Chr22:36872459 [GRCh38] Chr22:37268501 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.342+114G>A	single nucleotide variant	not provided [RCV001696113]	Chr22:36867576 [GRCh38] Chr22:37263618 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.506G>A (p.Arg169His)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001049944]	Chr22:36871687 [GRCh38] Chr22:37267729 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.528+172G>A	single nucleotide variant	not provided [RCV001696405]	Chr22:36871881 [GRCh38] Chr22:37267923 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.627+209_627+256del	deletion	not provided [RCV001693878]	Chr22:36872624..36872671 [GRCh38] Chr22:37268666..37268713 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.229A>G (p.Ser77Gly)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001056546]	Chr22:36865030 [GRCh38] Chr22:37261072 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+87T>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001220007]	Chr22:36875870 [GRCh38] Chr22:37271912 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+69C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001058252]	Chr22:36875852 [GRCh38] Chr22:37271894 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.170G>T (p.Arg57Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001058342]	Chr22:36864971 [GRCh38] Chr22:37261013 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+12G>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001058614]	Chr22:36875795 [GRCh38] Chr22:37271837 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+62C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001059382]	Chr22:36875845 [GRCh38] Chr22:37271887 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.311T>C (p.Met104Thr)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001050149]	Chr22:36867431 [GRCh38] Chr22:37263473 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.670G>A (p.Val224Met)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001216376]\|not specified [RCV004033993]	Chr22:36875695 [GRCh38] Chr22:37271737 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-7C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001052545]	Chr22:36876022 [GRCh38] Chr22:37272064 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.499G>A (p.Val167Ile)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001038911]	Chr22:36871680 [GRCh38] Chr22:37267722 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+39T>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001232870]\|not specified [RCV004033183]	Chr22:36875822 [GRCh38] Chr22:37271864 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.304G>A (p.Ala102Thr)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001063508]	Chr22:36867424 [GRCh38] Chr22:37263466 [GRCh37] Chr22:22q12.3	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_37260067)_(37266604_?)del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV001325178]	Chr22:37260067..37266604 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.485C>T (p.Pro162Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001296169]	Chr22:36871666 [GRCh38] Chr22:37267708 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.665C>T (p.Ser222Phe)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001326369]	Chr22:36875690 [GRCh38] Chr22:37271732 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.111C>A (p.Ser37Arg)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001325907]	Chr22:36864123 [GRCh38] Chr22:37260165 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.256C>G (p.Leu86Val)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001300782]	Chr22:36865057 [GRCh38] Chr22:37261099 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.330C>T (p.Asn110=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001433807]	Chr22:36867450 [GRCh38] Chr22:37263492 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.22C>T (p.Arg8Trp)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001374252]	Chr22:36861193 [GRCh38] Chr22:37257235 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-48C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001370204]	Chr22:36875981 [GRCh38] Chr22:37272023 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.342+4C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001348997]	Chr22:36867466 [GRCh38] Chr22:37263508 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.222G>A (p.Gly74=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001415091]	Chr22:36865023 [GRCh38] Chr22:37261065 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.641G>A (p.Gly214Glu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001345165]	Chr22:36875666 [GRCh38] Chr22:37271708 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.604C>T (p.Arg202Trp)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001360097]	Chr22:36872402 [GRCh38] Chr22:37268444 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.58G>A (p.Val20Ile)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001327590]\|not provided [RCV004692516]	Chr22:36864070 [GRCh38] Chr22:37260112 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-96G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001365481]	Chr22:36875933 [GRCh38] Chr22:37271975 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.118-10T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001461055]	Chr22:36864909 [GRCh38] Chr22:37260951 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.33-6G>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001482529]	Chr22:36864039 [GRCh38] Chr22:37260081 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-83T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001463135]	Chr22:36875946 [GRCh38] Chr22:37271988 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.219C>T (p.Phe73=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001415845]	Chr22:36865020 [GRCh38] Chr22:37261062 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.32+9C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001505278]	Chr22:36861212 [GRCh38] Chr22:37257254 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.528+10G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001418580]	Chr22:36871719 [GRCh38] Chr22:37267761 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+118G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001403165]	Chr22:36875901 [GRCh38] Chr22:37271943 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-91G>C	single nucleotide variant	not provided [RCV001532466]	Chr22:36875938 [GRCh38] Chr22:37271980 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.363C>T (p.Val121=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001423372]	Chr22:36870435 [GRCh38] Chr22:37266477 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-65T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001445067]	Chr22:36875964 [GRCh38] Chr22:37272006 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.390G>A (p.Arg130=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001410878]	Chr22:36870462 [GRCh38] Chr22:37266504 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.18G>A (p.Gln6=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001493785]	Chr22:36861189 [GRCh38] Chr22:37257231 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.825-214A>G	single nucleotide variant	not provided [RCV001715237]	Chr22:36877414 [GRCh38] Chr22:37273456 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.51G>A (p.Pro17=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001461778]	Chr22:36864063 [GRCh38] Chr22:37260105 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.824+236G>T	single nucleotide variant	not provided [RCV001674445]	Chr22:36876330 [GRCh38] Chr22:37272372 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.470+7G>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001470022]	Chr22:36870549 [GRCh38] Chr22:37266591 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.343-8C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001500701]	Chr22:36870407 [GRCh38] Chr22:37266449 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.343-73C>T	single nucleotide variant	not provided [RCV001670457]	Chr22:36870342 [GRCh38] Chr22:37266384 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.272-281GT[19]	microsatellite	not provided [RCV001611980]	Chr22:36867110..36867111 [GRCh38] Chr22:37263152..37263153 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.471-267C>T	single nucleotide variant	not provided [RCV001710200]	Chr22:36871385 [GRCh38] Chr22:37267427 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.342+202C>T	single nucleotide variant	not provided [RCV001616867]	Chr22:36867664 [GRCh38] Chr22:37263706 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.456G>T (p.Pro152=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001464446]\|not provided [RCV004704586]	Chr22:36870528 [GRCh38] Chr22:37266570 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.78T>C (p.Ile26=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001405640]	Chr22:36864090 [GRCh38] Chr22:37260132 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.470+20G>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001513183]\|not provided [RCV001619914]	Chr22:36870562 [GRCh38] Chr22:37266604 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.528+17C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001519560]\|not provided [RCV001655776]	Chr22:36871726 [GRCh38] Chr22:37267768 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.702C>T (p.Asp234=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001496481]	Chr22:36875727 [GRCh38] Chr22:37271769 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.222G>C (p.Gly74=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001406647]	Chr22:36865023 [GRCh38] Chr22:37261065 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.32+1258T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001511733]	Chr22:36862461 [GRCh38] Chr22:37258503 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.129C>T (p.Ile43=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001501069]	Chr22:36864930 [GRCh38] Chr22:37260972 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.204G>A (p.Lys68=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001471821]	Chr22:36865005 [GRCh38] Chr22:37261047 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.766G>A (p.Ala256Thr)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001497429]	Chr22:36876036 [GRCh38] Chr22:37272078 [GRCh37] Chr22:22q12.3	likely benign
NC_000022.10:g.(?_37154355)_(39148633_?)del	deletion	Emery-Dreifuss muscular dystrophy [RCV003122557]\|Infantile neuroaxonal dystrophy [RCV003122556]\|Myoclonic dystonia 26 [RCV003107333]	Chr22:37154355..39148633 [GRCh37] Chr22:22q12.3-13.1	pathogenic\|uncertain significance
NM_000631.5(NCF4):c.342+29G>A	single nucleotide variant	not provided [RCV001769713]	Chr22:36867491 [GRCh38] Chr22:37263533 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.118-72T>C	single nucleotide variant	not provided [RCV001769864]	Chr22:36864847 [GRCh38] Chr22:37260889 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.407C>T (p.Ser136Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001784112]	Chr22:36870479 [GRCh38] Chr22:37266521 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.271+220C>G	single nucleotide variant	not provided [RCV001769617]	Chr22:36865292 [GRCh38] Chr22:37261334 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.529-2A>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001782503]	Chr22:36872325 [GRCh38] Chr22:37268367 [GRCh37] Chr22:22q12.3	pathogenic\|likely pathogenic
NM_000631.5(NCF4):c.272-281GT[22]	microsatellite	not provided [RCV001769663]	Chr22:36867110..36867111 [GRCh38] Chr22:37263152..37263153 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.627+184G>A	single nucleotide variant	not provided [RCV001753159]	Chr22:36872609 [GRCh38] Chr22:37268651 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.528+203C>G	single nucleotide variant	not provided [RCV001753164]	Chr22:36871912 [GRCh38] Chr22:37267954 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.768G>A (p.Ala256=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001910960]\|not specified [RCV004039168]	Chr22:36876038 [GRCh38] Chr22:37272080 [GRCh37] Chr22:22q12.3	likely benign\|uncertain significance
NC_000022.10:g.(?_37257214)_(37414773_?)dup	duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001874898]\|not provided [RCV001874899]	Chr22:37257214..37414773 [GRCh37] Chr22:22q12.3	uncertain significance\|no classifications from unflagged records
NM_000631.5(NCF4):c.247G>A (p.Ala83Thr)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001908245]	Chr22:36865048 [GRCh38] Chr22:37261090 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.457C>T (p.Arg153Cys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001863637]	Chr22:36870529 [GRCh38] Chr22:37266571 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.331_333dup (p.Ala111dup)	duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001910728]	Chr22:36867449..36867450 [GRCh38] Chr22:37263491..37263492 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.33-3C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001971178]	Chr22:36864042 [GRCh38] Chr22:37260084 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.94A>G (p.Lys32Glu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001987513]	Chr22:36864106 [GRCh38] Chr22:37260148 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+60C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001864399]	Chr22:36875843 [GRCh38] Chr22:37271885 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.628-3C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002006687]	Chr22:36875650 [GRCh38] Chr22:37271692 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+2T>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002005177]	Chr22:36875785 [GRCh38] Chr22:37271827 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-22C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001968827]	Chr22:36876007 [GRCh38] Chr22:37272049 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.505C>T (p.Arg169Cys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001912740]	Chr22:36871686 [GRCh38] Chr22:37267728 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.170G>A (p.Arg57His)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001943111]	Chr22:36864971 [GRCh38] Chr22:37261013 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.85A>C (p.Ile29Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002016036]	Chr22:36864097 [GRCh38] Chr22:37260139 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.344G>A (p.Ser115Asn)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001944129]	Chr22:36870416 [GRCh38] Chr22:37266458 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+24C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001925076]	Chr22:36875807 [GRCh38] Chr22:37271849 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.201C>T (p.Ser67=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001888231]	Chr22:36865002 [GRCh38] Chr22:37261044 [GRCh37] Chr22:22q12.3	likely benign\|uncertain significance
NM_000631.5(NCF4):c.409C>T (p.Pro137Ser)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001902653]\|not specified [RCV004041341]	Chr22:36870481 [GRCh38] Chr22:37266523 [GRCh37] Chr22:22q12.3	likely benign\|uncertain significance
NM_000631.5(NCF4):c.759-58C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001996764]	Chr22:36875971 [GRCh38] Chr22:37272013 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.280T>C (p.Tyr94His)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001917375]	Chr22:36867400 [GRCh38] Chr22:37263442 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.74A>G (p.Asn25Ser)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001923369]	Chr22:36864086 [GRCh38] Chr22:37260128 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-98A>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001993684]	Chr22:36875931 [GRCh38] Chr22:37271973 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.32+3G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001880945]	Chr22:36861206 [GRCh38] Chr22:37257248 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.676A>C (p.Ile226Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001900184]\|not specified [RCV004039804]	Chr22:36875701 [GRCh38] Chr22:37271743 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.313C>T (p.Arg105Trp)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001916537]	Chr22:36867433 [GRCh38] Chr22:37263475 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.627+22_627+33dup	duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001937195]	Chr22:36872444..36872445 [GRCh38] Chr22:37268486..37268487 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.464G>A (p.Arg155Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002014858]	Chr22:36870536 [GRCh38] Chr22:37266578 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.342+16G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001954100]	Chr22:36867478 [GRCh38] Chr22:37263520 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.586G>A (p.Val196Met)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001933617]	Chr22:36872384 [GRCh38] Chr22:37268426 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.421G>C (p.Glu141Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001960890]	Chr22:36870493 [GRCh38] Chr22:37266535 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.605G>A (p.Arg202Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001900730]	Chr22:36872403 [GRCh38] Chr22:37268445 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.87C>A (p.Ile29=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002046500]	Chr22:36864099 [GRCh38] Chr22:37260141 [GRCh37] Chr22:22q12.3	likely benign\|uncertain significance
NM_000631.5(NCF4):c.23G>A (p.Arg8Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002010413]	Chr22:36861194 [GRCh38] Chr22:37257236 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.68C>T (p.Ser23Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001938696]	Chr22:36864080 [GRCh38] Chr22:37260122 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.596T>C (p.Leu199Pro)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001923678]	Chr22:36872394 [GRCh38] Chr22:37268436 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.164T>C (p.Ile55Thr)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV001926078]	Chr22:36864965 [GRCh38] Chr22:37261007 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.743C>T (p.Thr248Ile)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002035688]	Chr22:36875768 [GRCh38] Chr22:37271810 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.220G>A (p.Gly74Arg)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002009479]	Chr22:36865021 [GRCh38] Chr22:37261063 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.361G>A (p.Val121Ile)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002027067]	Chr22:36870433 [GRCh38] Chr22:37266475 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-84C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002049563]	Chr22:36875945 [GRCh38] Chr22:37271987 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.739G>A (p.Asp247Asn)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002009669]	Chr22:36875764 [GRCh38] Chr22:37271806 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.215G>A (p.Arg72His)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002046464]	Chr22:36865016 [GRCh38] Chr22:37261058 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.627+15G>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002145367]	Chr22:36872440 [GRCh38] Chr22:37268482 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.267C>A (p.Leu89=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002125453]	Chr22:36865068 [GRCh38] Chr22:37261110 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+46C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002112395]	Chr22:36875829 [GRCh38] Chr22:37271871 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.118-11G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002167069]	Chr22:36864908 [GRCh38] Chr22:37260950 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.282C>T (p.Tyr94=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002169829]	Chr22:36867402 [GRCh38] Chr22:37263444 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-25T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002086094]	Chr22:36876004 [GRCh38] Chr22:37272046 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.57T>C (p.Asp19=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002109376]	Chr22:36864069 [GRCh38] Chr22:37260111 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.529-13C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002091277]	Chr22:36872314 [GRCh38] Chr22:37268356 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.272-7_272-6del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002197455]	Chr22:36867385..36867386 [GRCh38] Chr22:37263427..37263428 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.528+11C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002077515]	Chr22:36871720 [GRCh38] Chr22:37267762 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+85C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002114949]	Chr22:36875868 [GRCh38] Chr22:37271910 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.528+15_528+16inv	inversion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002211713]	Chr22:36871724..36871725 [GRCh38] Chr22:37267766..37267767 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.272-14_272-13del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002078989]	Chr22:36867377..36867378 [GRCh38] Chr22:37263419..37263420 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.429G>T (p.Val143=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002078001]	Chr22:36870501 [GRCh38] Chr22:37266543 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-101T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002188322]	Chr22:36875928 [GRCh38] Chr22:37271970 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.272-19G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002085629]	Chr22:36867373 [GRCh38] Chr22:37263415 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.343-13C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002080606]	Chr22:36870402 [GRCh38] Chr22:37266444 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.271+17G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002197832]	Chr22:36865089 [GRCh38] Chr22:37261131 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.117+19C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002121946]	Chr22:36864148 [GRCh38] Chr22:37260190 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.528+9C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002144388]	Chr22:36871718 [GRCh38] Chr22:37267760 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.303C>T (p.Ile101=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002163721]	Chr22:36867423 [GRCh38] Chr22:37263465 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.32+20C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002198989]	Chr22:36861223 [GRCh38] Chr22:37257265 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.228C>T (p.Asp76=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002155802]	Chr22:36865029 [GRCh38] Chr22:37261071 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.90G>A (p.Glu30=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002135732]	Chr22:36864102 [GRCh38] Chr22:37260144 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.118-16C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002098744]	Chr22:36864903 [GRCh38] Chr22:37260945 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.118-8C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002138278]	Chr22:36864911 [GRCh38] Chr22:37260953 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.117+20C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002098994]	Chr22:36864149 [GRCh38] Chr22:37260191 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.471-9T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002083358]\|NCF4-related disorder [RCV003893223]	Chr22:36871643 [GRCh38] Chr22:37267685 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.32+10G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002083631]	Chr22:36861213 [GRCh38] Chr22:37257255 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+38C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002160222]	Chr22:36875821 [GRCh38] Chr22:37271863 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.648G>A (p.Thr216=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002122022]	Chr22:36875673 [GRCh38] Chr22:37271715 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+70A>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002142760]	Chr22:36875853 [GRCh38] Chr22:37271895 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.443G>A (p.Arg148His)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003115981]	Chr22:36870515 [GRCh38] Chr22:37266557 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.301A>G (p.Ile101Val)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003114890]	Chr22:36867421 [GRCh38] Chr22:37263463 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.446G>A (p.Arg149Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003112971]	Chr22:36870518 [GRCh38] Chr22:37266560 [GRCh37] Chr22:22q12.3	uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup	duplication	Adenylosuccinate lyase deficiency [RCV003119093]	Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2	uncertain significance
NM_000631.5(NCF4):c.759-40C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003525360]\|not specified [RCV003123478]	Chr22:36875989 [GRCh38] Chr22:37272031 [GRCh37] Chr22:22q12.3	pathogenic\|uncertain significance
NM_000631.5(NCF4):c.758+99_758+101delinsC	indel	not specified [RCV003123479]	Chr22:36875882..36875884 [GRCh38] Chr22:37271924..37271926 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.471-1G>A	single nucleotide variant	Chronic granulomatous disease [RCV003231038]	Chr22:36871651 [GRCh38] Chr22:37267693 [GRCh37] Chr22:22q12.3	likely pathogenic
NM_000631.5(NCF4):c.908T>G (p.Val303Gly)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002266119]	Chr22:36877711 [GRCh38] Chr22:37273753 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.529-54T>C	single nucleotide variant	not provided [RCV002286041]	Chr22:36872273 [GRCh38] Chr22:37268315 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-67C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002303298]	Chr22:36875962 [GRCh38] Chr22:37272004 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.343-15G>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003013265]	Chr22:36870400 [GRCh38] Chr22:37266442 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.118-6_118-4del	microsatellite	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003095684]	Chr22:36864909..36864911 [GRCh38] Chr22:37260951..37260953 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+117A>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003074626]	Chr22:36875900 [GRCh38] Chr22:37271942 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.107C>T (p.Thr36Ile)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002636090]	Chr22:36864119 [GRCh38] Chr22:37260161 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.780T>G (p.Asp260Glu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002838745]	Chr22:36876050 [GRCh38] Chr22:37272092 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-20C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002815519]	Chr22:36876009 [GRCh38] Chr22:37272051 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.659C>T (p.Pro220Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002615102]	Chr22:36875684 [GRCh38] Chr22:37271726 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.508A>G (p.Met170Val)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002617317]	Chr22:36871689 [GRCh38] Chr22:37267731 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.26C>G (p.Ala9Gly)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003021710]	Chr22:36861197 [GRCh38] Chr22:37257239 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.279C>T (p.Val93=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002695969]	Chr22:36867399 [GRCh38] Chr22:37263441 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+48T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003020070]	Chr22:36875831 [GRCh38] Chr22:37271873 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.69G>T (p.Ser23=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002740218]	Chr22:36864081 [GRCh38] Chr22:37260123 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.330C>A (p.Asn110Lys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003054269]	Chr22:36867450 [GRCh38] Chr22:37263492 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.238A>G (p.Ser80Gly)	single nucleotide variant	not specified [RCV004224494]	Chr22:36865039 [GRCh38] Chr22:37261081 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.543C>T (p.Phe181=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003036337]	Chr22:36872341 [GRCh38] Chr22:37268383 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+16G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002912523]	Chr22:36875799 [GRCh38] Chr22:37271841 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.342+12C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002948728]	Chr22:36867474 [GRCh38] Chr22:37263516 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.88G>A (p.Glu30Lys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003078933]	Chr22:36864100 [GRCh38] Chr22:37260142 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.271+9C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002847695]	Chr22:36865081 [GRCh38] Chr22:37261123 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.526G>C (p.Glu176Gln)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003077181]	Chr22:36871707 [GRCh38] Chr22:37267749 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+34C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002820991]	Chr22:36875817 [GRCh38] Chr22:37271859 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-88T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002795605]	Chr22:36875941 [GRCh38] Chr22:37271983 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+110G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003019035]	Chr22:36875893 [GRCh38] Chr22:37271935 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-121C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002923353]	Chr22:36875908 [GRCh38] Chr22:37271950 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.528+18G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003085792]	Chr22:36871727 [GRCh38] Chr22:37267769 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.101G>C (p.Gly34Ala)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002958182]	Chr22:36864113 [GRCh38] Chr22:37260155 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.566T>C (p.Leu189Pro)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003082093]	Chr22:36872364 [GRCh38] Chr22:37268406 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.793C>T (p.Pro265Ser)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002917479]	Chr22:36876063 [GRCh38] Chr22:37272105 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+23G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002954178]	Chr22:36875806 [GRCh38] Chr22:37271848 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-43T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002985261]	Chr22:36875986 [GRCh38] Chr22:37272028 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+106C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002871876]	Chr22:36875889 [GRCh38] Chr22:37271931 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+84C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002801973]	Chr22:36875867 [GRCh38] Chr22:37271909 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-6C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002918436]	Chr22:36876023 [GRCh38] Chr22:37272065 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+28_758+29insA	insertion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003005028]	Chr22:36875811..36875812 [GRCh38] Chr22:37271853..37271854 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.51G>T (p.Pro17=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003041199]	Chr22:36864063 [GRCh38] Chr22:37260105 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.118-23_118-13del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002985629]	Chr22:36864892..36864902 [GRCh38] Chr22:37260934..37260944 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.470+5G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002918893]	Chr22:36870547 [GRCh38] Chr22:37266589 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.767C>T (p.Ala256Val)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003082806]	Chr22:36876037 [GRCh38] Chr22:37272079 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.411C>T (p.Pro137=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003025635]	Chr22:36870483 [GRCh38] Chr22:37266525 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.271+16C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002580973]	Chr22:36865088 [GRCh38] Chr22:37261130 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.41A>G (p.Glu14Gly)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003044765]	Chr22:36864053 [GRCh38] Chr22:37260095 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.621G>T (p.Trp207Cys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002770441]	Chr22:36872419 [GRCh38] Chr22:37268461 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.759-58C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002629878]\|not specified [RCV004654164]	Chr22:36875971 [GRCh38] Chr22:37272013 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.444C>A (p.Arg148=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002715393]	Chr22:36870516 [GRCh38] Chr22:37266558 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.578C>G (p.Ala193Gly)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002922868]	Chr22:36872376 [GRCh38] Chr22:37268418 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+39T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002647619]	Chr22:36875822 [GRCh38] Chr22:37271864 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.283G>A (p.Val95Met)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002629280]	Chr22:36867403 [GRCh38] Chr22:37263445 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.489G>A (p.Gln163=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003091849]	Chr22:36871670 [GRCh38] Chr22:37267712 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.307G>A (p.Glu103Lys)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002676022]	Chr22:36867427 [GRCh38] Chr22:37263469 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+57_758+58inv	inversion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002651060]	Chr22:36875840..36875841 [GRCh38] Chr22:37271882..37271883 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.117+14C>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003062801]	Chr22:36864143 [GRCh38] Chr22:37260185 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-19C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002806025]	Chr22:36876010 [GRCh38] Chr22:37272052 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.648G>C (p.Thr216=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002938019]	Chr22:36875673 [GRCh38] Chr22:37271715 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-20C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002725868]	Chr22:36876009 [GRCh38] Chr22:37272051 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.260C>T (p.Pro87Leu)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002582820]	Chr22:36865061 [GRCh38] Chr22:37261103 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.758+17G>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003067126]	Chr22:36875800 [GRCh38] Chr22:37271842 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.256del (p.Leu86fs)	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV002635897]	Chr22:36865055 [GRCh38] Chr22:37261097 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.669C>T (p.Phe223=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003066524]	Chr22:36875694 [GRCh38] Chr22:37271736 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.617A>G (p.Asp206Gly)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003070298]	Chr22:36872415 [GRCh38] Chr22:37268457 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.258G>A (p.Leu86=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003070963]	Chr22:36865059 [GRCh38] Chr22:37261101 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.729C>A (p.Tyr243Ter)	single nucleotide variant	not specified [RCV003155664]	Chr22:36875754 [GRCh38] Chr22:37271796 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.619T>C (p.Trp207Arg)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003224710]	Chr22:36872417 [GRCh38] Chr22:37268459 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.173G>A (p.Arg58His)	single nucleotide variant	not specified [RCV004251470]	Chr22:36864974 [GRCh38] Chr22:37261016 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.614_615del (p.Lys205fs)	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003338085]	Chr22:36872411..36872412 [GRCh38] Chr22:37268453..37268454 [GRCh37] Chr22:22q12.3	likely pathogenic
NM_000631.5(NCF4):c.758+33C>T	single nucleotide variant	not specified [RCV004360692]	Chr22:36875816 [GRCh38] Chr22:37271858 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.408G>A (p.Ser136=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003873927]	Chr22:36870480 [GRCh38] Chr22:37266522 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.220G>C (p.Gly74Arg)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641094]\|NCF4-related disorder [RCV003421076]	Chr22:36865021 [GRCh38] Chr22:37261063 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.446_454del (p.Arg149_Arg151del)	deletion	NCF4-related disorder [RCV003408395]	Chr22:36870511..36870519 [GRCh38] Chr22:37266553..37266561 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.126C>A (p.Val42=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003526348]	Chr22:36864927 [GRCh38] Chr22:37260969 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+64C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003824855]	Chr22:36875847 [GRCh38] Chr22:37271889 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.459C>T (p.Arg153=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003878763]	Chr22:36870531 [GRCh38] Chr22:37266573 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.272-12G>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003527096]	Chr22:36867380 [GRCh38] Chr22:37263422 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.585T>C (p.Asp195=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003525543]	Chr22:36872383 [GRCh38] Chr22:37268425 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.367del (p.Val123fs)	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003526415]	Chr22:36870437 [GRCh38] Chr22:37266479 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.117+18T>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003526433]	Chr22:36864147 [GRCh38] Chr22:37260189 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+36_758+81del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003525501]	Chr22:36875819..36875864 [GRCh38] Chr22:37271861..37271906 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.750C>T (p.Ser250=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003854705]	Chr22:36875775 [GRCh38] Chr22:37271817 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.369G>A (p.Val123=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003861401]	Chr22:36870441 [GRCh38] Chr22:37266483 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.529-18C>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003862222]	Chr22:36872309 [GRCh38] Chr22:37268351 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.272-8C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641603]	Chr22:36867384 [GRCh38] Chr22:37263426 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-24T>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641744]	Chr22:36876005 [GRCh38] Chr22:37272047 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.522A>C (p.Arg174Ser)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641791]	Chr22:36871703 [GRCh38] Chr22:37267745 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.348G>A (p.Leu116=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641182]	Chr22:36870420 [GRCh38] Chr22:37266462 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.549A>G (p.Gly183=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003640681]	Chr22:36872347 [GRCh38] Chr22:37268389 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.549A>C (p.Gly183=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003640690]	Chr22:36872347 [GRCh38] Chr22:37268389 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.471-17del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003859643]	Chr22:36871632 [GRCh38] Chr22:37267674 [GRCh37] Chr22:22q12.3	benign
NM_000631.5(NCF4):c.32+13G>T	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003869309]	Chr22:36861216 [GRCh38] Chr22:37257258 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.222G>T (p.Gly74=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641435]	Chr22:36865023 [GRCh38] Chr22:37261065 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.906C>T (p.Asp302=)	single nucleotide variant	NCF4-related disorder [RCV003949093]\|not provided [RCV003885992]	Chr22:36877709 [GRCh38] Chr22:37273751 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.627+9A>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003870186]	Chr22:36872434 [GRCh38] Chr22:37268476 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.498C>T (p.Ser166=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003642237]	Chr22:36871679 [GRCh38] Chr22:37267721 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-38G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641152]	Chr22:36875991 [GRCh38] Chr22:37272033 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.132G>A (p.Glu44=)	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003863520]	Chr22:36864933 [GRCh38] Chr22:37260975 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.759-71T>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003820506]	Chr22:36875958 [GRCh38] Chr22:37272000 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.758+67A>G	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003642053]	Chr22:36875850 [GRCh38] Chr22:37271892 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.118-16C>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003640753]	Chr22:36864903 [GRCh38] Chr22:37260945 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.529-12G>A	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003642205]	Chr22:36872315 [GRCh38] Chr22:37268357 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.456del (p.Arg153fs)	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641646]	Chr22:36870528 [GRCh38] Chr22:37266570 [GRCh37] Chr22:22q12.3	pathogenic
NM_000631.5(NCF4):c.272-19G>C	single nucleotide variant	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 [RCV003641763]	Chr22:36867373 [GRCh38] Chr22:37263415 [GRCh37] Chr22:22q12.3	likely benign
NM_000631.5(NCF4):c.736G>A (p.Glu246Lys)	single nucleotide variant	not specified [RCV004473615]	Chr22:36875761 [GRCh38] Chr22:37271803 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.721C>T (p.Arg241Cys)	single nucleotide variant	not specified [RCV004473614]	Chr22:36875746 [GRCh38] Chr22:37271788 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.682A>C (p.Lys228Gln)	single nucleotide variant	not specified [RCV004473608]	Chr22:36875707 [GRCh38] Chr22:37271749 [GRCh37] Chr22:22q12.3	uncertain significance
NM_000631.5(NCF4):c.911C>T (p.Ala304Val)	single nucleotide variant	NCF4-related disorder [RCV004731919]	Chr22:36877714 [GRCh38] Chr22:37273756 [GRCh37] Chr22:22q12.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	954
Count of miRNA genes:	556
Interacting mature miRNAs:	638
Transcripts:	ENST00000248899, ENST00000397147, ENST00000415063, ENST00000447071
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1581529	BP71_H	Blood pressure QTL 71 (human)	2	0.001	Blood pressure	pulse pressure	22	11094966	37094966	Human
407208580	GWAS857556_H	blood protein measurement QTL GWAS857556 (human)		1e-96	blood protein measurement	blood protein measurement (CMO:0000028)	22	36862461	36862462	Human
407193159	GWAS842135_H	blood protein measurement QTL GWAS842135 (human)		1e-3906	blood protein measurement	blood protein measurement (CMO:0000028)	22	36862461	36862462	Human
407241603	GWAS890579_H	blood protein measurement QTL GWAS890579 (human)		4e-98	blood protein measurement	blood protein measurement (CMO:0000028)	22	36862461	36862462	Human
406890470	GWAS539446_H	basophil count QTL GWAS539446 (human)		4e-10	basophil quantity (VT:0002607)	blood basophil count (CMO:0000034)	22	36864201	36864202	Human
406920838	GWAS569814_H	basophil count, eosinophil count QTL GWAS569814 (human)		5e-14	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	22	36862461	36862462	Human
407077960	GWAS726936_H	blood protein measurement QTL GWAS726936 (human)		6e-52	blood protein measurement	blood protein measurement (CMO:0000028)	22	36862461	36862462	Human
407190569	GWAS839545_H	blood protein measurement QTL GWAS839545 (human)		7e-3761	blood protein measurement	blood protein measurement (CMO:0000028)	22	36862461	36862462	Human
407134281	GWAS783257_H	triglyceride measurement, multiple sclerosis QTL GWAS783257 (human)		0.000004	triglyceride measurement, multiple sclerosis	blood triglyceride level (CMO:0000118)	22	36872513	36872514	Human
407085709	GWAS734685_H	blood protein measurement QTL GWAS734685 (human)		2e-66	blood protein measurement	blood protein measurement (CMO:0000028)	22	36862461	36862462	Human
406939665	GWAS588641_H	eosinophil count QTL GWAS588641 (human)		5e-13	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	22	36862461	36862462	Human
406944081	GWAS593057_H	Crohn's disease QTL GWAS593057 (human)		2e-08	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	22	36862461	36862462	Human
2289428	BW313_H	Body weight QTL 313 (human)	2.09	0.0015	Body weight	BMI	22	11344284	37344284	Human
407027669	GWAS676645_H	atopic eczema QTL GWAS676645 (human)		0.000006	atopic eczema		22	36862461	36862462	Human
406909944	GWAS558920_H	allergic disease QTL GWAS558920 (human)		0.0000004	allergic disease		22	36862461	36862462	Human
407213148	GWAS862124_H	blood protein measurement QTL GWAS862124 (human)		5e-4209	blood protein measurement	blood protein measurement (CMO:0000028)	22	36862461	36862462	Human

Markers in Region

RH47220

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	37,273,738 - 37,273,861	UniSTS	GRCh37
Build 36	22	35,603,684 - 35,603,807	RGD	NCBI36
Celera	22	21,075,083 - 21,075,206	RGD
Cytogenetic Map	22	q13.1	UniSTS
HuRef	22	20,235,388 - 20,235,511	UniSTS
GeneMap99-GB4 RH Map	22	118.4	UniSTS
NCBI RH Map	22	154.0	UniSTS

RH66798

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	37,273,688 - 37,273,861	UniSTS	GRCh37
Build 36	22	35,603,634 - 35,603,807	RGD	NCBI36
Celera	22	21,075,033 - 21,075,206	RGD
Cytogenetic Map	22	q13.1	UniSTS
HuRef	22	20,235,338 - 20,235,511	UniSTS
GeneMap99-GB4 RH Map	22	111.71	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2397	2788	2251	4730	1704	2192	5	609	1938	448	2086	7207	6443	19	3661	1	818	1678	1479	171	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_023400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000631	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_013416	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028808	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325651	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325652	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325653	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325654	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB025219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB025220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC209618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH004909	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223324	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290924	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL008637	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002798	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT007346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU076892	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX355636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR542078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ314880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X77094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000248899 ⟹ ENSP00000248899

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	36,861,006 - 36,878,015 (+)	Ensembl

Ensembl Acc Id:

ENST00000397147 ⟹ ENSP00000380334

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	36,860,988 - 36,878,017 (+)	Ensembl

Ensembl Acc Id:

ENST00000415063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	36,872,137 - 36,877,764 (+)	Ensembl

Ensembl Acc Id:

ENST00000447071 ⟹ ENSP00000414958

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	36,860,988 - 36,875,832 (+)	Ensembl

Ensembl Acc Id:

ENST00000650698 ⟹ ENSP00000498381

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	36,863,091 - 36,878,014 (+)	Ensembl

Ensembl Acc Id:

ENST00000650827 ⟹ ENSP00000498212

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	36,862,303 - 36,878,010 (+)	Ensembl

Ensembl Acc Id:

ENST00000651053

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	36,862,524 - 36,878,010 (+)	Ensembl

RefSeq Acc Id:

NM_000631 ⟹ NP_000622

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	36,861,006 - 36,878,015 (+)	NCBI
GRCh37	22	37,257,030 - 37,274,059 (+)	ENTREZGENE
Build 36	22	35,586,991 - 35,604,005 (+)	NCBI Archive
HuRef	22	20,219,193 - 20,235,709 (+)	ENTREZGENE
CHM1_1	22	37,215,777 - 37,232,815 (+)	NCBI
T2T-CHM13v2.0	22	37,316,866 - 37,336,974 (+)	NCBI

Sequence:

show sequence

AGACTGGAGAGAAGCAGGCCTGAGCCTCCCCAAAGGCAGCTCCTGGGGACTCCCAGGACCACAG
GCTGAGACGAGACGCAGGGTGGCTGGAGGAAGTGAGAGGTGAACTCAGCCTGGGACTGGCTGGG
CGAGACTCTCCACCTGCTCCCTGGGACCATCGCCCACCATGGCTGTGGCCCAGCAGCTGCGGGC
CGAGAGTGACTTTGAACAGCTTCCGGATGATGTTGCCATCTCGGCCAACATTGCTGACATCGAG
GAGAAGAGAGGCTTCACCAGCCACTTTGTTTTCGTCATCGAGGTGAAGACAAAAGGAGGATCCA
AGTACCTCATCTACCGCCGCTACCGCCAGTTCCATGCTTTGCAGAGCAAGCTGGAGGAGCGCTT
CGGGCCAGACAGCAAGAGCAGTGCCCTGGCCTGTACCCTGCCCACACTCCCAGCCAAAGTCTAC
GTGGGTGTGAAACAGGAGATCGCCGAGATGCGGATACCTGCCCTCAACGCCTACATGAAGAGCC
TGCTCAGCCTGCCGGTCTGGGTGCTGATGGATGAGGACGTCCGGATCTTCTTTTACCAGTCGCC
CTATGACTCAGAGCAGGTGCCCCAGGCACTCCGCCGGCTCCGCCCGCGCACCCGGAAAGTCAAG
AGCGTGTCCCCACAGGGCAACAGCGTTGACCGCATGGCAGCTCCGAGAGCAGAGGCTCTATTTG
ACTTCACTGGAAACAGCAAACTGGAGCTGAATTTCAAAGCTGGAGATGTGATCTTCCTCCTCAG
TCGGATCAACAAAGACTGGCTGGAGGGCACTGTCCGGGGAGCCACGGGCATCTTCCCTCTCTCC
TTCGTGAAGATCCTCAAAGACTTCCCTGAGGAGGACGACCCCACCAACTGGCTGCGTTGCTACT
ACTACGAAGACACCATCAGCACCATCAAGGACATCGCGGTGGAGGAAGATCTCAGCAGCACTCC
CCTATTGAAAGACCTGCTGGAGCTCACAAGGCGGGAGTTCCAGAGAGAGGACATAGCTCTGAAT
TACCGGGACGCTGAGGGGGATCTGGTTCGGCTGCTGTCGGATGAGGACGTAGCGCTCATGGTGC
GGCAGGCTCGTGGCCTCCCCTCCCAGAAGCGCCTCTTCCCCTGGAAGCTGCACATCACGCAGAA
GGACAACTACAGGGTCTACAACACGATGCCATGAGCTGACGGTGTCCCTGGAGCAGTGAGGGGA
CACCAGCAAAAACCTTCAGCTCTCAGAGGAGATTGGGACCAGGAAAACCTGGGAGGATGGGCAG
ACTTCCTGTCTTTGAGGCTAATGGACCCGTGGGGCTTGTAATCTGTCTCTTTCTACTATTTACA
TCTGATTTAAATAAACCATTCCATCTGAAAGGGG

hide sequence

RefSeq Acc Id:

NM_013416 ⟹ NP_038202

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	36,861,006 - 36,878,015 (+)	NCBI
GRCh37	22	37,257,030 - 37,274,059 (+)	ENTREZGENE
Build 36	22	35,586,991 - 35,604,005 (+)	NCBI Archive
HuRef	22	20,219,193 - 20,235,709 (+)	ENTREZGENE
CHM1_1	22	37,215,777 - 37,232,815 (+)	NCBI
T2T-CHM13v2.0	22	37,316,866 - 37,336,974 (+)	NCBI

Sequence:

show sequence

AGACTGGAGAGAAGCAGGCCTGAGCCTCCCCAAAGGCAGCTCCTGGGGACTCCCAGGACCACAG
GCTGAGACGAGACGCAGGGTGGCTGGAGGAAGTGAGAGGTGAACTCAGCCTGGGACTGGCTGGG
CGAGACTCTCCACCTGCTCCCTGGGACCATCGCCCACCATGGCTGTGGCCCAGCAGCTGCGGGC
CGAGAGTGACTTTGAACAGCTTCCGGATGATGTTGCCATCTCGGCCAACATTGCTGACATCGAG
GAGAAGAGAGGCTTCACCAGCCACTTTGTTTTCGTCATCGAGGTGAAGACAAAAGGAGGATCCA
AGTACCTCATCTACCGCCGCTACCGCCAGTTCCATGCTTTGCAGAGCAAGCTGGAGGAGCGCTT
CGGGCCAGACAGCAAGAGCAGTGCCCTGGCCTGTACCCTGCCCACACTCCCAGCCAAAGTCTAC
GTGGGTGTGAAACAGGAGATCGCCGAGATGCGGATACCTGCCCTCAACGCCTACATGAAGAGCC
TGCTCAGCCTGCCGGTCTGGGTGCTGATGGATGAGGACGTCCGGATCTTCTTTTACCAGTCGCC
CTATGACTCAGAGCAGGTGCCCCAGGCACTCCGCCGGCTCCGCCCGCGCACCCGGAAAGTCAAG
AGCGTGTCCCCACAGGGCAACAGCGTTGACCGCATGGCAGCTCCGAGAGCAGAGGCTCTATTTG
ACTTCACTGGAAACAGCAAACTGGAGCTGAATTTCAAAGCTGGAGATGTGATCTTCCTCCTCAG
TCGGATCAACAAAGACTGGCTGGAGGGCACTGTCCGGGGAGCCACGGGCATCTTCCCTCTCTCC
TTCGTGAAGATCCTCAAAGACTTCCCTGAGGAGGACGACCCCACCAACTGGCTGCGTTGCTACT
ACTACGAAGACACCATCAGCACCATCAAGTCTGTGGCCTGGGAGGGAGGGGCCTGTCCAGCCTT
CCTGCCATCCCTACGACCACTGCCCCTCACATCACCTTCTCATGGGTCCCTCTCCCACTCCAAA
GCCCCCAGTGGCTCCCAGATGAGCCACAATGCTGTAACAAGCCATCAACGTCCAGGGTGGCCTG
GCCAGCCTCATTCCCCTTTCCCCCACCCCACACCCCACTTCCAGCCTGATGCCTCCTTACTCCA
GCCTGTCACCCCCTTAGGGACATCGCGGTGGAGGAAGATCTCAGCAGCACTCCCCTATTGAAAG
ACCTGCTGGAGCTCACAAGGCGGGAGTTCCAGAGAGAGGACATAGCTCTGAATTACCGGGACGC
TGAGGGGGATCTGGTTCGGCTGCTGTCGGATGAGGACGTAGCGCTCATGGTGCGGCAGGCTCGT
GGCCTCCCCTCCCAGAAGCGCCTCTTCCCCTGGAAGCTGCACATCACGCAGAAGGACAACTACA
GGGTCTACAACACGATGCCATGAGCTGACGGTGTCCCTGGAGCAGTGAGGGGACACCAGCAAAA
ACCTTCAGCTCTCAGAGGAGATTGGGACCAGGAAAACCTGGGAGGATGGGCAGACTTCCTGTCT
TTGAGGCTAATGGACCCGTGGGGCTTGTAATCTGTCTCTTTCTACTATTTACATCTGATTTAAA
TAAACCATTCCATCTGAAAGGGG

hide sequence

RefSeq Acc Id:

XM_047441384 ⟹ XP_047297340

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	36,861,857 - 36,878,015 (+)	NCBI

RefSeq Acc Id:

XM_047441385 ⟹ XP_047297341

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	36,861,223 - 36,878,015 (+)	NCBI

RefSeq Acc Id:

XM_054325651 ⟹ XP_054181626

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	37,317,708 - 37,335,053 (+)	NCBI

RefSeq Acc Id:

XM_054325652 ⟹ XP_054181627

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	37,317,716 - 37,336,974 (+)	NCBI

RefSeq Acc Id:

XM_054325653 ⟹ XP_054181628

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	37,317,077 - 37,335,053 (+)	NCBI

RefSeq Acc Id:

XM_054325654 ⟹ XP_054181629

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	37,316,866 - 37,336,974 (+)	NCBI

RefSeq Acc Id:

XM_054325655 ⟹ XP_054181630

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	37,317,087 - 37,336,974 (+)	NCBI

RefSeq Acc Id:

XM_054325656 ⟹ XP_054181631

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	37,316,866 - 37,335,053 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_000622	(Get FASTA)	NCBI Sequence Viewer
	NP_038202	(Get FASTA)	NCBI Sequence Viewer
	XP_047297340	(Get FASTA)	NCBI Sequence Viewer
	XP_047297341	(Get FASTA)	NCBI Sequence Viewer
	XP_054181626	(Get FASTA)	NCBI Sequence Viewer
	XP_054181627	(Get FASTA)	NCBI Sequence Viewer
	XP_054181628	(Get FASTA)	NCBI Sequence Viewer
	XP_054181629	(Get FASTA)	NCBI Sequence Viewer
	XP_054181630	(Get FASTA)	NCBI Sequence Viewer
	XP_054181631	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB39970	(Get FASTA)	NCBI Sequence Viewer
	AAH02798	(Get FASTA)	NCBI Sequence Viewer
	AAP36010	(Get FASTA)	NCBI Sequence Viewer
	ABC40739	(Get FASTA)	NCBI Sequence Viewer
	BAA89791	(Get FASTA)	NCBI Sequence Viewer
	BAA89792	(Get FASTA)	NCBI Sequence Viewer
	BAD97044	(Get FASTA)	NCBI Sequence Viewer
	BAF83613	(Get FASTA)	NCBI Sequence Viewer
	CAA54372	(Get FASTA)	NCBI Sequence Viewer
	CAG30414	(Get FASTA)	NCBI Sequence Viewer
	CAG46875	(Get FASTA)	NCBI Sequence Viewer
	EAW60122	(Get FASTA)	NCBI Sequence Viewer
	EAW60123	(Get FASTA)	NCBI Sequence Viewer
	EAW60124	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000248899
	ENSP00000248899.6
	ENSP00000380334
	ENSP00000380334.4
	ENSP00000414958.1
	ENSP00000483977.1
	ENSP00000486446.1
	ENSP00000486471.1
	ENSP00000486744.1
	ENSP00000498212.1
	ENSP00000498381.1
GenBank Protein	Q15080	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_038202 ⟸ NM_013416
- Peptide Label:	isoform 2
- UniProtKB:	A0A217FLJ2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHA LQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDED VRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFTGNSKLELNFK AGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKSVA WEGGACPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTSHQRPGWPGQPHSPFPHPTPH FQPDASLLQPVTPLGTSRWRKISAALPY hide sequence

RefSeq Acc Id:	NP_000622 ⟸ NM_000631
- Peptide Label:	isoform 1
- UniProtKB:	Q9BU98 (UniProtKB/Swiss-Prot), Q86U56 (UniProtKB/Swiss-Prot), O60808 (UniProtKB/Swiss-Prot), A8K4F9 (UniProtKB/Swiss-Prot), Q9NP45 (UniProtKB/Swiss-Prot), Q15080 (UniProtKB/Swiss-Prot), Q53FG4 (UniProtKB/TrEMBL), Q6FGM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHA LQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDED VRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFTGNSKLELNFK AGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIA VEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLF PWKLHITQKDNYRVYNTMP hide sequence

Ensembl Acc Id:

ENSP00000498212 ⟸ ENST00000650827

Ensembl Acc Id:

ENSP00000498381 ⟸ ENST00000650698

Ensembl Acc Id:

ENSP00000248899 ⟸ ENST00000248899

Ensembl Acc Id:

ENSP00000414958 ⟸ ENST00000447071

Ensembl Acc Id:

ENSP00000380334 ⟸ ENST00000397147

RefSeq Acc Id:	XP_047297341 ⟸ XM_047441385
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047297340 ⟸ XM_047441384
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054181629 ⟸ XM_054325654
- Peptide Label:	isoform X5
- UniProtKB:	A0A494BZS1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054181631 ⟸ XM_054325656
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_054181628 ⟸ XM_054325653
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054181630 ⟸ XM_054325655
- Peptide Label:	isoform X5
- UniProtKB:	A0A494BZS1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054181626 ⟸ XM_054325651
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054181627 ⟸ XM_054325652
- Peptide Label:	isoform X1

Protein Domains

PB1 PX SH3

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q15080-F1-model_v2	AlphaFold	Q15080	1-339	view protein structure

Promoters

RGD ID:

6800178

Promoter ID:

HG_KWN:42629

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000336951, NM_000631, NM_013416, OTTHUMT00000318866

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	35,586,931 - 35,587,431 (+)	MPROMDB

RGD ID:

13603916

Promoter ID:

EPDNEW_H28142

Type:

initiation region

Name:

NCF4_1

Description:

neutrophil cytosolic factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	36,861,006 - 36,861,066	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:7662	AgrOrtholog
COSMIC	NCF4	COSMIC
Ensembl Genes	ENSG00000100365	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000275990	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000248899	ENTREZGENE
	ENST00000248899.11	UniProtKB/Swiss-Prot
	ENST00000397147	ENTREZGENE
	ENST00000397147.7	UniProtKB/Swiss-Prot
	ENST00000447071.5	UniProtKB/TrEMBL
	ENST00000614157.1	UniProtKB/TrEMBL
	ENST00000625504.2	UniProtKB/TrEMBL
	ENST00000626011.2	UniProtKB/TrEMBL
	ENST00000628938.2	UniProtKB/TrEMBL
	ENST00000650698.1	UniProtKB/TrEMBL
	ENST00000650827.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.1520.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3 Domains	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000100365	GTEx
	ENSG00000275990	GTEx
HGNC ID	HGNC:7662	ENTREZGENE
Human Proteome Map	NCF4	Human Proteome Map
InterPro	NADPH_Oxidase/PX-Domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	p40phox	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	p40phox_SH3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PB1-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PB1_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PB1_P40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Phox	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PX_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PX_p40phox	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:4689	UniProtKB/Swiss-Prot
NCBI Gene	4689	ENTREZGENE
OMIM	601488	OMIM
PANTHER	PTHR15706:SF20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3 MULTIPLE DOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PB1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PF00787	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA31465	PharmGKB
PRINTS	P40PHOX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3DOMAIN	UniProtKB/TrEMBL
PROSITE	PB1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PS50195	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	PB1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SM00312	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	CAD & PB1 domains	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF50044	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF64268	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0G2JR51_HUMAN	UniProtKB/TrEMBL
	A0A217FLJ2	ENTREZGENE, UniProtKB/TrEMBL
	A0A494BZS1	ENTREZGENE, UniProtKB/TrEMBL
	A8K4F9	ENTREZGENE
	B0QY04_HUMAN	UniProtKB/TrEMBL
	NCF4_HUMAN	UniProtKB/Swiss-Prot
	O60808	ENTREZGENE
	Q15080	ENTREZGENE
	Q53FG4	ENTREZGENE, UniProtKB/TrEMBL
	Q6FGM9	ENTREZGENE, UniProtKB/TrEMBL
	Q86U56	ENTREZGENE
	Q9BU98	ENTREZGENE
	Q9NP45	ENTREZGENE
UniProt Secondary	A8K4F9	UniProtKB/Swiss-Prot
	O60808	UniProtKB/Swiss-Prot
	Q86U56	UniProtKB/Swiss-Prot
	Q9BU98	UniProtKB/Swiss-Prot
	Q9NP45	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-17	NCF4	neutrophil cytosolic factor 4	NCF4	neutrophil cytosolic factor 4, 40kDa	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO