IRF8 (interferon regulatory factor 8) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: IRF8 (interferon regulatory factor 8) Homo sapiens
Analyze
Symbol: IRF8
Name: interferon regulatory factor 8
RGD ID: 1351360
HGNC Page HGNC:5358
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in cellular response to type II interferon; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleoplasm. Implicated in Behcet's disease; immunodeficiency 32A; immunodeficiency 32B; multiple myeloma; and systemic lupus erythematosus. Biomarker of Behcet's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: H-ICSBP; ICSBP; ICSBP1; IMD32A; IMD32B; interferon consensus sequence binding protein 1; interferon consensus sequence-binding protein; IRF-8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381685,899,162 - 85,922,609 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1685,899,116 - 85,922,606 (+)EnsemblGRCh38hg38GRCh38
GRCh371685,932,768 - 85,956,215 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361684,490,275 - 84,513,713 (+)NCBINCBI36Build 36hg18NCBI36
Build 341684,490,274 - 84,513,710NCBI
Celera1670,235,758 - 70,259,207 (+)NCBICelera
Cytogenetic Map16q24.1NCBI
HuRef1671,673,680 - 71,697,160 (+)NCBIHuRef
CHM1_11687,344,316 - 87,367,790 (+)NCBICHM1_1
T2T-CHM13v2.01691,965,661 - 91,989,108 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP)
8'-apo-beta,psi-caroten-8'-al  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aripiprazole  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzoates  (EXP)
beta-carotene  (EXP)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
Calcimycin  (EXP)
carbon monoxide  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
choline  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
disulfiram  (EXP)
ethanol  (ISO)
fenfluramine  (EXP)
folic acid  (ISO)
fonofos  (EXP)
Fulvic acid  (EXP)
gentamycin  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
L-methionine  (ISO)
lead(0)  (EXP,ISO)
lidocaine  (ISO)
lipopolysaccharide  (EXP,ISO)
mercury atom  (ISO)
mercury dichloride  (ISO)
mercury(0)  (ISO)
MK-2206  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nicotine  (EXP,ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP)
pentanal  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (EXP,ISO)
protein kinase inhibitor  (EXP)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
serpentine asbestos  (EXP)
sodium arsenite  (EXP)
sulforaphane  (EXP)
terbufos  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytoplasm  (IDA,IEA)
cytosol  (TAS)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

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

References - curated
# Reference Title Reference Citation
1. Enhancement of Th1/Th17 inflammation by TRIM21 in Behçet's disease. Ahn Y, etal., Sci Rep. 2017 Jun 7;7(1):3018. doi: 10.1038/s41598-017-03251-5.
2. [Silencing of ICSBP/IRF8 expression in U226 cells and bone marrow mononuclear cells from patients with multiple myeloma]. Jia G, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Oct;20(5):1127-30.
3. IRF8 suppresses pathological cardiac remodelling by inhibiting calcineurin signalling. Jiang DS, etal., Nat Commun. 2014;5:3303. doi: 10.1038/ncomms4303.
4. Two Genetic Variations in the IRF8 region are associated with Behçet's disease in Han Chinese. Jiang Y, etal., Sci Rep. 2016 Jan 22;6:19651. doi: 10.1038/srep19651.
5. Cooperation between deficiencies of IRF-4 and IRF-8 promotes both myeloid and lymphoid tumorigenesis. Jo SH, etal., Blood. 2010 Oct 14;116(15):2759-67. doi: 10.1182/blood-2009-07-234559. Epub 2010 Jun 28.
6. Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants. Leonard D, etal., Circ Cardiovasc Genet. 2013 Jun;6(3):255-63. doi: 10.1161/CIRCGENETICS.113.000044. Epub 2013 May 9.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. Ocular Behcet's disease is associated with aberrant methylation of interferon regulatory factor 8 (IRF8) in monocyte-derived dendritic cells. Qiu Y, etal., Oncotarget. 2017 Apr 19;8(31):51277-51287. doi: 10.18632/oncotarget.17235. eCollection 2017 Aug 1.
10. Hypermethylation of Interferon Regulatory Factor 8 (IRF8) Confers Risk to Vogt-Koyanagi-Harada Disease. Qiu Y, etal., Sci Rep. 2017 Apr 21;7(1):1007. doi: 10.1038/s41598-017-01249-7.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Genetic association study of systemic lupus erythematosus and disease subphenotypes in European populations. Ruiz-Larrañaga O, etal., Clin Rheumatol. 2016 May;35(5):1161-8. doi: 10.1007/s10067-016-3235-8. Epub 2016 Mar 28.
14. Hepatic interferon regulatory factor 8 expression mediates liver ischemia/reperfusion injury in mice. Shi G, etal., Biochem Pharmacol. 2021 Oct;192:114728. doi: 10.1016/j.bcp.2021.114728. Epub 2021 Aug 13.
15. Interferon regulatory factor 8 protects against cerebral ischaemic-reperfusion injury. Xiang M, etal., J Neurochem. 2014 Jun;129(6):988-1001. doi: 10.1111/jnc.12682. Epub 2014 Mar 13.
16. Interferon regulatory factor 8 modulates phenotypic switching of smooth muscle cells by regulating the activity of myocardin. Zhang SM, etal., Mol Cell Biol. 2014 Feb;34(3):400-14. doi: 10.1128/MCB.01070-13. Epub 2013 Nov 18.
Additional References at PubMed
PMID:1460054   PMID:7768900   PMID:8550813   PMID:8861914   PMID:9593745   PMID:9742224   PMID:10092656   PMID:10102295   PMID:10734131   PMID:10991940   PMID:11483597   PMID:11997525  
PMID:12477932   PMID:12549820   PMID:12904288   PMID:15371411   PMID:15489234   PMID:15489334   PMID:15761153   PMID:15837792   PMID:16484229   PMID:16504056   PMID:16886895   PMID:16914719  
PMID:16918696   PMID:17121613   PMID:17200120   PMID:17386941   PMID:17579016   PMID:17687331   PMID:18029348   PMID:18195016   PMID:18246201   PMID:18316378   PMID:18469857   PMID:18580679  
PMID:18596738   PMID:18701018   PMID:18922617   PMID:19074829   PMID:19201866   PMID:19274049   PMID:19525953   PMID:19542426   PMID:19801548   PMID:19865102   PMID:19879194   PMID:20201926  
PMID:20430450   PMID:20435892   PMID:20573402   PMID:20634887   PMID:20679491   PMID:20980339   PMID:21131588   PMID:21178004   PMID:21216962   PMID:21220691   PMID:21228327   PMID:21441570  
PMID:21475251   PMID:21487040   PMID:21524210   PMID:21552549   PMID:21625229   PMID:21779181   PMID:21833088   PMID:21873635   PMID:21903422   PMID:22003407   PMID:22046141   PMID:22082370  
PMID:22096565   PMID:22262849   PMID:22446963   PMID:22464253   PMID:22879909   PMID:22942423   PMID:22994200   PMID:23128233   PMID:23307532   PMID:23308054   PMID:23314186   PMID:23468103  
PMID:23511034   PMID:23573829   PMID:23658517   PMID:23740937   PMID:23770605   PMID:23775715   PMID:23857890   PMID:23967110   PMID:24034601   PMID:24292274   PMID:24390342   PMID:24435047  
PMID:24753251   PMID:24832596   PMID:24943672   PMID:24957708   PMID:25109451   PMID:25122610   PMID:25387409   PMID:25453760   PMID:25749660   PMID:25880423   PMID:25903733   PMID:25989711  
PMID:26563595   PMID:26613957   PMID:27183582   PMID:27582125   PMID:27658717   PMID:27709315   PMID:27893462   PMID:28090699   PMID:28388578   PMID:28473536   PMID:28477415   PMID:28492552  
PMID:28537908   PMID:29247272   PMID:29569949   PMID:30021884   PMID:30241692   PMID:30266821   PMID:30285234   PMID:30466106   PMID:30710564   PMID:30840779   PMID:30884312   PMID:30900036  
PMID:30997501   PMID:31221219   PMID:31594449   PMID:31794020   PMID:32039830   PMID:32049023   PMID:32341037   PMID:32735845   PMID:32814053   PMID:33705797   PMID:33766090   PMID:33839155  
PMID:33897697   PMID:33951726   PMID:34172624   PMID:34331664   PMID:34358447   PMID:34478526   PMID:34991467   PMID:35085599   PMID:35086136   PMID:35140242   PMID:35388006   PMID:35460405  
PMID:36288724   PMID:36672246   PMID:36703005   PMID:36959484   PMID:37508555   PMID:37591714   PMID:38481803  


Genomics

Comparative Map Data
IRF8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381685,899,162 - 85,922,609 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1685,899,116 - 85,922,606 (+)EnsemblGRCh38hg38GRCh38
GRCh371685,932,768 - 85,956,215 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361684,490,275 - 84,513,713 (+)NCBINCBI36Build 36hg18NCBI36
Build 341684,490,274 - 84,513,710NCBI
Celera1670,235,758 - 70,259,207 (+)NCBICelera
Cytogenetic Map16q24.1NCBI
HuRef1671,673,680 - 71,697,160 (+)NCBIHuRef
CHM1_11687,344,316 - 87,367,790 (+)NCBICHM1_1
T2T-CHM13v2.01691,965,661 - 91,989,108 (+)NCBIT2T-CHM13v2.0
Irf8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398121,463,097 - 121,483,433 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8121,463,097 - 121,483,433 (+)EnsemblGRCm39 Ensembl
GRCm388120,736,358 - 120,756,694 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8120,736,358 - 120,756,694 (+)EnsemblGRCm38mm10GRCm38
MGSCv378123,260,276 - 123,280,594 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368123,622,353 - 123,642,671 (+)NCBIMGSCv36mm8
Celera8124,952,030 - 124,972,392 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map870.05NCBI
Irf8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81965,699,284 - 65,721,066 (+)NCBIGRCr8
mRatBN7.21948,790,581 - 48,812,363 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1948,790,588 - 48,811,829 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1955,588,302 - 55,604,928 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01956,269,197 - 56,285,845 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01958,487,122 - 58,503,763 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01954,314,859 - 54,336,643 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1954,314,865 - 54,336,640 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01965,033,704 - 65,055,534 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41951,100,088 - 51,116,730 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11951,104,968 - 51,121,611 (+)NCBI
Celera1948,045,909 - 48,062,560 (+)NCBICelera
Cytogenetic Map19q12NCBI
Irf8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955541973,022 - 990,106 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955541973,004 - 988,493 (+)NCBIChiLan1.0ChiLan1.0
IRF8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21895,651,335 - 95,675,613 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116101,568,444 - 101,593,081 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01666,568,370 - 66,591,949 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11685,905,334 - 85,929,073 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1685,905,334 - 85,929,073 (+)Ensemblpanpan1.1panPan2
IRF8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1566,789,264 - 66,812,477 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl566,791,350 - 66,842,179 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha566,805,485 - 66,828,693 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0567,017,551 - 67,040,770 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl567,018,777 - 67,056,060 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1567,037,979 - 67,061,164 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0566,873,445 - 66,896,641 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0567,286,849 - 67,310,056 (-)NCBIUU_Cfam_GSD_1.0
Irf8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934926,854,556 - 26,869,478 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366412,608,100 - 2,622,409 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366412,608,109 - 2,622,446 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IRF8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl63,041,645 - 3,097,406 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.163,041,617 - 3,060,685 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.263,343,491 - 3,358,042 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap6p15-p14NCBI
IRF8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1571,301,878 - 71,325,622 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl571,302,233 - 71,325,613 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660474,408,156 - 4,432,299 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Irf8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247462,272,389 - 2,290,455 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247462,272,385 - 2,290,400 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IRF8
349 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002163.4(IRF8):c.671C>T (p.Pro224Leu) single nucleotide variant Immunodeficiency 32B [RCV000656480]|Immunodeficiency 32B [RCV001242309] Chr16:85918486 [GRCh38]
Chr16:85952092 [GRCh37]
Chr16:16q24.1		 pathogenic|uncertain significance
NM_002163.4(IRF8):c.1194G>A (p.Pro398=) single nucleotide variant Immunodeficiency 32B [RCV000542965]|not provided [RCV004710131]|not specified [RCV003488690] Chr16:85921195 [GRCh38]
Chr16:85954801 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.300A>G (p.Gln100=) single nucleotide variant IRF8-related disorder [RCV003980024]|Immunodeficiency 32B [RCV000546611]|not provided [RCV004710134] Chr16:85909115 [GRCh38]
Chr16:85942721 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.322A>G (p.Lys108Glu) single nucleotide variant Immunodeficiency 32B [RCV000050229] Chr16:85909137 [GRCh38]
Chr16:85942743 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_002163.4(IRF8):c.238A>G (p.Thr80Ala) single nucleotide variant Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency [RCV000050230] Chr16:85909053 [GRCh38]
Chr16:85942659 [GRCh37]
Chr16:16q24.1		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 copy number loss See cases [RCV000136504] Chr16:83687650..86073240 [GRCh38]
Chr16:83721255..86106846 [GRCh37]
Chr16:82278756..84664347 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 copy number loss See cases [RCV000203439] Chr16:83553094..86098013 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
NM_002163.4(IRF8):c.9C>G (p.Asp3Glu) single nucleotide variant not provided [RCV000255394] Chr16:85903024 [GRCh38]
Chr16:85936630 [GRCh37]
Chr16:16q24.1		 likely pathogenic|uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_002163.4(IRF8):c.672C>T (p.Pro224=) single nucleotide variant Immunodeficiency 32B [RCV000551370]|not provided [RCV004710136] Chr16:85918487 [GRCh38]
Chr16:85952093 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.961G>A (p.Val321Ile) single nucleotide variant Inborn genetic diseases [RCV003268983] Chr16:85918776 [GRCh38]
Chr16:85952382 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.800C>T (p.Thr267Met) single nucleotide variant Immunodeficiency 32B [RCV002554845]|not provided [RCV001092202] Chr16:85918615 [GRCh38]
Chr16:85952221 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.982T>G (p.Phe328Val) single nucleotide variant IRF8-related disorder [RCV003925754]|Immunodeficiency 32B [RCV001088823]|not provided [RCV000585057] Chr16:85918797 [GRCh38]
Chr16:85952403 [GRCh37]
Chr16:16q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002163.4(IRF8):c.602C>T (p.Ala201Val) single nucleotide variant Immunodeficiency 32B [RCV000557109]|Immunodeficiency 32B [RCV000656479]|not provided [RCV001200602]|not specified [RCV001193620] Chr16:85918417 [GRCh38]
Chr16:85952023 [GRCh37]
Chr16:16q24.1		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002163.4(IRF8):c.432C>T (p.Asp144=) single nucleotide variant Immunodeficiency 32B [RCV000536472]|not provided [RCV004710135] Chr16:85911643 [GRCh38]
Chr16:85911643..85911644 [GRCh38]
Chr16:85945249 [GRCh37]
Chr16:85945249..85945250 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_002163.4(IRF8):c.10C>T (p.Arg4Trp) single nucleotide variant not provided [RCV000480436] Chr16:85903025 [GRCh38]
Chr16:85936631 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.419G>A (p.Arg140His) single nucleotide variant IRF8-related disorder [RCV003392314]|Immunodeficiency 32B [RCV000810837]|not provided [RCV000482148] Chr16:85911630 [GRCh38]
Chr16:85945236 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1 copy number loss See cases [RCV000510624] Chr16:85491404..87883528 [GRCh37]
Chr16:16q24.1-24.2		 pathogenic
NM_002163.4(IRF8):c.1275C>T (p.Thr425=) single nucleotide variant Immunodeficiency 32B [RCV000531719]|not provided [RCV004710133] Chr16:85921276 [GRCh38]
Chr16:85954882 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q24.1(chr16:85787339-86138570)x1 copy number loss See cases [RCV000511492] Chr16:85787339..86138570 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3		 likely pathogenic
NM_002163.4(IRF8):c.1236A>G (p.Ser412=) single nucleotide variant Immunodeficiency 32B [RCV000557799]|not provided [RCV004710132] Chr16:85921237 [GRCh38]
Chr16:85954843 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_002163.4(IRF8):c.387C>T (p.Cys129=) single nucleotide variant Immunodeficiency 32B [RCV000556889]|not provided [RCV004711185] Chr16:85911598 [GRCh38]
Chr16:85945204 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_002163.4(IRF8):c.414C>G (p.Cys138Trp) single nucleotide variant Immunodeficiency 32B [RCV000652523] Chr16:85911625 [GRCh38]
Chr16:85945231 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.406A>G (p.Met136Val) single nucleotide variant Immunodeficiency 32B [RCV000652524] Chr16:85911617 [GRCh38]
Chr16:85945223 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.859G>A (p.Val287Met) single nucleotide variant Immunodeficiency 32B [RCV000652525] Chr16:85918674 [GRCh38]
Chr16:85918674..85918675 [GRCh38]
Chr16:85952280 [GRCh37]
Chr16:85952280..85952281 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1030G>A (p.Gly344Ser) single nucleotide variant Immunodeficiency 32B [RCV000652526] Chr16:85920150 [GRCh38]
Chr16:85953756 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1169_1170del (p.Val390fs) microsatellite Immunodeficiency 32B [RCV000652527] Chr16:85921168..85921169 [GRCh38]
Chr16:85954774..85954775 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.813C>T (p.Phe271=) single nucleotide variant Immunodeficiency 32B [RCV000652528]|not provided [RCV001727789]|not specified [RCV001701431] Chr16:85918628 [GRCh38]
Chr16:85952234 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_002163.4(IRF8):c.495G>T (p.Pro165=) single nucleotide variant Immunodeficiency 32B [RCV000652529] Chr16:85913178 [GRCh38]
Chr16:85946784 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.894C>T (p.Phe298=) single nucleotide variant IRF8-related disorder [RCV003965402]|Immunodeficiency 32B [RCV000652530]|not provided [RCV002275115] Chr16:85918709 [GRCh38]
Chr16:85952315 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_002163.4(IRF8):c.1104+8T>G single nucleotide variant Immunodeficiency 32B [RCV000652531] Chr16:85920232 [GRCh38]
Chr16:85953838 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1104+7dup duplication Immunodeficiency 32B [RCV000652532] Chr16:85920230..85920231 [GRCh38]
Chr16:85953836..85953837 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.724T>C (p.Tyr242His) single nucleotide variant IRF8-related disorder [RCV004756001]|Immunodeficiency 32B [RCV000652534]|not provided [RCV001528410] Chr16:85918539 [GRCh38]
Chr16:85952145 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.601+6G>C single nucleotide variant Immunodeficiency 32B [RCV000652535] Chr16:85914526 [GRCh38]
Chr16:85948132 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.370G>A (p.Val124Met) single nucleotide variant Immunodeficiency 32B [RCV000652536]|not provided [RCV004704173] Chr16:85911581 [GRCh38]
Chr16:85945187 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1161C>T (p.Ala387=) single nucleotide variant IRF8-related disorder [RCV003918072]|Immunodeficiency 32B [RCV000652537]|not provided [RCV004704174] Chr16:85921162 [GRCh38]
Chr16:85954768 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
NM_002163.4(IRF8):c.682C>T (p.Arg228Cys) single nucleotide variant Immunodeficiency 32B [RCV000685109]|Immunodeficiency 32B [RCV001706702] Chr16:85918497 [GRCh38]
Chr16:85952103 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1131G>A (p.Leu377=) single nucleotide variant Immunodeficiency 32B [RCV000692786] Chr16:85921132 [GRCh38]
Chr16:85954738 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?) duplication Immunodeficiency 32B [RCV000707337]|Inherited Immunodeficiency Diseases [RCV001027585]|not provided [RCV001766566] Chr16:85921279..85921280 [GRCh38]
Chr16:85954885..85954886 [GRCh37]
Chr16:16q24.1		 pathogenic|uncertain significance
NM_002163.4(IRF8):c.1184A>C (p.Glu395Ala) single nucleotide variant Immunodeficiency 32B [RCV000702511] Chr16:85921185 [GRCh38]
Chr16:85954791 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1081C>T (p.Arg361Cys) single nucleotide variant Immunodeficiency 32B [RCV000688939] Chr16:85920201 [GRCh38]
Chr16:85953807 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_002163.4(IRF8):c.1104G>A (p.Gln368=) single nucleotide variant Immunodeficiency 32B [RCV000797259]|not provided [RCV000761942] Chr16:85920224 [GRCh38]
Chr16:85953830 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641) copy number loss Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001004081] Chr16:84872102..87678641 [GRCh37]
Chr16:16q24.1-24.2		 pathogenic
NM_002163.4(IRF8):c.864C>T (p.Phe288=) single nucleotide variant Immunodeficiency 32B [RCV000882337]|not provided [RCV003424441] Chr16:85918679 [GRCh38]
Chr16:85952285 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_002163.4(IRF8):c.1278C>T (p.Val426=) single nucleotide variant Immunodeficiency 32B [RCV002066406] Chr16:85921279 [GRCh38]
Chr16:85954885 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.672C>G (p.Pro224=) single nucleotide variant Immunodeficiency 32B [RCV003768855] Chr16:85918487 [GRCh38]
Chr16:85952093 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1098C>T (p.Leu366=) single nucleotide variant Immunodeficiency 32B [RCV001502349] Chr16:85920218 [GRCh38]
Chr16:85953824 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.621C>G (p.Ile207Met) single nucleotide variant Immunodeficiency 32B [RCV001038711] Chr16:85918436 [GRCh38]
Chr16:85952042 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q24.1(chr16:84815936-86045285)x1 copy number loss not provided [RCV001006835] Chr16:84815936..86045285 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.848G>C (p.Ser283Thr) single nucleotide variant Immunodeficiency 32B [RCV001053683] Chr16:85918663 [GRCh38]
Chr16:85952269 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1210C>T (p.Arg404Trp) single nucleotide variant Immunodeficiency 32B [RCV001050530] Chr16:85921211 [GRCh38]
Chr16:85954817 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.45C>G (p.Ile15Met) single nucleotide variant Immunodeficiency 32B [RCV001036891] Chr16:85903060 [GRCh38]
Chr16:85936666 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_002163.4(IRF8):c.126C>T (p.His42=) single nucleotide variant IRF8-related disorder [RCV003910687]|Immunodeficiency 32B [RCV000896933] Chr16:85903141 [GRCh38]
Chr16:85936747 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.825G>A (p.Glu275=) single nucleotide variant Immunodeficiency 32B [RCV000920028] Chr16:85918640 [GRCh38]
Chr16:85952246 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.287C>T (p.Thr96Met) single nucleotide variant Immunodeficiency 32B [RCV000908730] Chr16:85909102 [GRCh38]
Chr16:85942708 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.415G>A (p.Gly139Ser) single nucleotide variant IRF8-related disorder [RCV003912841]|Immunodeficiency 32B [RCV000899478]|not provided [RCV004705894] Chr16:85911626 [GRCh38]
Chr16:85945232 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.810G>T (p.Leu270=) single nucleotide variant Immunodeficiency 32B [RCV001468483] Chr16:85918625 [GRCh38]
Chr16:85952231 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.537G>A (p.Ala179=) single nucleotide variant Immunodeficiency 32B [RCV000896486]|not provided [RCV004705888] Chr16:85913220 [GRCh38]
Chr16:85946826 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1029C>T (p.Asp343=) single nucleotide variant Immunodeficiency 32B [RCV002066210]|not provided [RCV004704356] Chr16:85920149 [GRCh38]
Chr16:85953755 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1077C>T (p.Pro359=) single nucleotide variant Immunodeficiency 32B [RCV000919033]|not provided [RCV001702571] Chr16:85920197 [GRCh38]
Chr16:85953803 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1193C>T (p.Pro398Leu) single nucleotide variant Immunodeficiency 32B [RCV003779991]|Inborn genetic diseases [RCV003267537] Chr16:85921194 [GRCh38]
Chr16:85954800 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.508C>G (p.Arg170Gly) single nucleotide variant Immunodeficiency 32B [RCV000799897] Chr16:85913191 [GRCh38]
Chr16:85946797 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.780C>T (p.Ser260=) single nucleotide variant Immunodeficiency 32B [RCV000800237] Chr16:85918595 [GRCh38]
Chr16:85952201 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_002163.4(IRF8):c.184G>A (p.Val62Ile) single nucleotide variant Immunodeficiency 32B [RCV000818680] Chr16:85908999 [GRCh38]
Chr16:85942605 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1189C>A (p.Pro397Thr) single nucleotide variant Immunodeficiency 32B [RCV000797558] Chr16:85921190 [GRCh38]
Chr16:85954796 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1093A>G (p.Ile365Val) single nucleotide variant Immunodeficiency 32B [RCV000824387] Chr16:85920213 [GRCh38]
Chr16:85953819 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.554-5T>G single nucleotide variant Immunodeficiency 32B [RCV000796277] Chr16:85914468 [GRCh38]
Chr16:85948074 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.590C>T (p.Ala197Val) single nucleotide variant Immunodeficiency 32B [RCV001046301] Chr16:85914509 [GRCh38]
Chr16:85948115 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.814G>A (p.Gly272Arg) single nucleotide variant Tracheoesophageal fistula [RCV001172293] Chr16:85918629 [GRCh38]
Chr16:85952235 [GRCh37]
Chr16:16q24.1		 likely pathogenic
NM_002163.4(IRF8):c.569C>T (p.Thr190Met) single nucleotide variant Immunodeficiency 32B [RCV001224391] Chr16:85914488 [GRCh38]
Chr16:85948094 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.332G>A (p.Arg111Gln) single nucleotide variant Immunodeficiency 32B [RCV001239991] Chr16:85909147 [GRCh38]
Chr16:85942753 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.433G>A (p.Glu145Lys) single nucleotide variant Immunodeficiency 32B [RCV001221642]|Inborn genetic diseases [RCV004629493] Chr16:85911644 [GRCh38]
Chr16:85945250 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.597_600del (p.His199fs) deletion Immunodeficiency 32B [RCV001221483] Chr16:85914514..85914517 [GRCh38]
Chr16:85948120..85948123 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1004A>G (p.Tyr335Cys) single nucleotide variant Immunodeficiency 32B [RCV001224778] Chr16:85920124 [GRCh38]
Chr16:85953730 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.70C>G (p.Pro24Ala) single nucleotide variant Immunodeficiency 32B [RCV001212056] Chr16:85903085 [GRCh38]
Chr16:85936691 [GRCh37]
Chr16:16q24.1		 uncertain significance
NC_000016.9:g.(?_85936622)_(86602447_?)dup duplication Immunodeficiency 32B [RCV003107594] Chr16:85936622..86602447 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.711C>T (p.Pro237=) single nucleotide variant Immunodeficiency 32B [RCV001497987] Chr16:85918526 [GRCh38]
Chr16:85952132 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1065G>A (p.Pro355=) single nucleotide variant Immunodeficiency 32B [RCV000882457] Chr16:85920185 [GRCh38]
Chr16:85953791 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1158A>T (p.Gly386=) single nucleotide variant Immunodeficiency 32B [RCV000884840] Chr16:85921159 [GRCh38]
Chr16:85954765 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_002163.4(IRF8):c.602-6C>A single nucleotide variant Immunodeficiency 32B [RCV001206066] Chr16:85918411 [GRCh38]
Chr16:85952017 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_002163.4(IRF8):c.1123C>T (p.Arg375Trp) single nucleotide variant Immunodeficiency 32B [RCV001065348]|Inborn genetic diseases [RCV004629439] Chr16:85921124 [GRCh38]
Chr16:85954730 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.673G>A (p.Glu225Lys) single nucleotide variant Immunodeficiency 32B [RCV001228047]|Inborn genetic diseases [RCV004629503] Chr16:85918488 [GRCh38]
Chr16:85952094 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.988+10G>A single nucleotide variant IRF8-related disorder [RCV003978097]|Immunodeficiency 32B [RCV000935061] Chr16:85918813 [GRCh38]
Chr16:85952419 [GRCh37]
Chr16:16q24.1		 likely benign|conflicting interpretations of pathogenicity
NM_002163.4(IRF8):c.239C>G (p.Thr80Arg) single nucleotide variant Immunodeficiency 32B [RCV001036021] Chr16:85909054 [GRCh38]
Chr16:85942660 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.486C>A (p.Ser162Arg) single nucleotide variant Immunodeficiency 32B [RCV001048840] Chr16:85913169 [GRCh38]
Chr16:85946775 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.289G>A (p.Asp97Asn) single nucleotide variant Immunodeficiency 32B [RCV001212474] Chr16:85909104 [GRCh38]
Chr16:85942710 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.101G>A (p.Ser34Asn) single nucleotide variant Immunodeficiency 32B [RCV001206359] Chr16:85903116 [GRCh38]
Chr16:85936722 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.713G>A (p.Gly238Asp) single nucleotide variant Immunodeficiency 32B [RCV001060820] Chr16:85918528 [GRCh38]
Chr16:85952134 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1244G>T (p.Arg415Ile) single nucleotide variant Immunodeficiency 32B [RCV001236028] Chr16:85921245 [GRCh38]
Chr16:85954851 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.751C>T (p.Arg251Cys) single nucleotide variant Immunodeficiency 32B [RCV001233154] Chr16:85918566 [GRCh38]
Chr16:85952172 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.601+5G>C single nucleotide variant Immunodeficiency 32B [RCV001039871] Chr16:85914525 [GRCh38]
Chr16:85948131 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1159G>T (p.Ala387Ser) single nucleotide variant Immunodeficiency 32B [RCV001233722] Chr16:85921160 [GRCh38]
Chr16:85954766 [GRCh37]
Chr16:16q24.1		 uncertain significance
Single allele deletion Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251455] Chr16:83931797..86285776 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
NM_002163.4(IRF8):c.1082G>A (p.Arg361His) single nucleotide variant Immunodeficiency 32B [RCV001297326] Chr16:85920202 [GRCh38]
Chr16:85953808 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.485G>C (p.Ser162Thr) single nucleotide variant Immunodeficiency 32B [RCV001341669] Chr16:85913168 [GRCh38]
Chr16:85946774 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.547A>G (p.Ser183Gly) single nucleotide variant Immunodeficiency 32B [RCV001296035] Chr16:85913230 [GRCh38]
Chr16:85946836 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.174+4A>G single nucleotide variant Immunodeficiency 32B [RCV001342974] Chr16:85903193 [GRCh38]
Chr16:85936799 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.68A>G (p.Tyr23Cys) single nucleotide variant Immunodeficiency 32B [RCV001371444] Chr16:85903083 [GRCh38]
Chr16:85936689 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.556G>A (p.Val186Met) single nucleotide variant Immunodeficiency 32B [RCV001371885] Chr16:85914475 [GRCh38]
Chr16:85948081 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1135G>C (p.Glu379Gln) single nucleotide variant Immunodeficiency 32B [RCV001362052] Chr16:85921136 [GRCh38]
Chr16:85954742 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1018C>T (p.Arg340Trp) single nucleotide variant Immunodeficiency 32B [RCV001364228] Chr16:85920138 [GRCh38]
Chr16:85953744 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.58A>G (p.Ser20Gly) single nucleotide variant Immunodeficiency 32B [RCV001345765] Chr16:85903073 [GRCh38]
Chr16:85936679 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.398T>C (p.Val133Ala) single nucleotide variant Immunodeficiency 32B [RCV001346656] Chr16:85911609 [GRCh38]
Chr16:85945215 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1180_1190del (p.Pro394fs) deletion Immunodeficiency 32B [RCV001345307] Chr16:85921178..85921188 [GRCh38]
Chr16:85954784..85954794 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.174G>A (p.Lys58=) single nucleotide variant Immunodeficiency 32B [RCV001317153] Chr16:85903189 [GRCh38]
Chr16:85936795 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.752G>A (p.Arg251His) single nucleotide variant Immunodeficiency 32B [RCV001299668] Chr16:85918567 [GRCh38]
Chr16:85952173 [GRCh37]
Chr16:16q24.1		 uncertain significance
NC_000016.9:g.(?_85936602)_(85955242_?)dup duplication Immunodeficiency 32B [RCV001324433] Chr16:85936602..85955242 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.536C>T (p.Ala179Val) single nucleotide variant Immunodeficiency 32B [RCV001359045] Chr16:85913219 [GRCh38]
Chr16:85946825 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.25C>T (p.Arg9Trp) single nucleotide variant Immunodeficiency 32B [RCV001297959] Chr16:85903040 [GRCh38]
Chr16:85936646 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.850C>T (p.Arg284Trp) single nucleotide variant Immunodeficiency 32B [RCV001359084] Chr16:85918665 [GRCh38]
Chr16:85952271 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.732C>T (p.Pro244=) single nucleotide variant Immunodeficiency 32B [RCV001494842] Chr16:85918547 [GRCh38]
Chr16:85952153 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.218C>T (p.Ala73Val) single nucleotide variant Immunodeficiency 32B [RCV001366045] Chr16:85909033 [GRCh38]
Chr16:85942639 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.359-4G>A single nucleotide variant Immunodeficiency 32B [RCV001416785]|not provided [RCV004704537] Chr16:85911566 [GRCh38]
Chr16:85945172 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.312C>T (p.Ser104=) single nucleotide variant Immunodeficiency 32B [RCV001485176] Chr16:85909127 [GRCh38]
Chr16:85942733 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.969C>T (p.Asp323=) single nucleotide variant IRF8-related disorder [RCV003946261]|Immunodeficiency 32B [RCV001483353] Chr16:85918784 [GRCh38]
Chr16:85952390 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.359-4G>C single nucleotide variant Immunodeficiency 32B [RCV001469329]|not provided [RCV004704591] Chr16:85911566 [GRCh38]
Chr16:85945172 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1122C>T (p.Val374=) single nucleotide variant Immunodeficiency 32B [RCV001517277] Chr16:85921123 [GRCh38]
Chr16:85954729 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.573G>A (p.Gly191=) single nucleotide variant Immunodeficiency 32B [RCV001521327]|not provided [RCV004710294] Chr16:85914492 [GRCh38]
Chr16:85948098 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.483G>A (p.Arg161=) single nucleotide variant Immunodeficiency 32B [RCV001491666] Chr16:85913166 [GRCh38]
Chr16:85946772 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.261T>C (p.Asn87=) single nucleotide variant Immunodeficiency 32B [RCV001434334] Chr16:85909076 [GRCh38]
Chr16:85942682 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.359-6C>T single nucleotide variant Immunodeficiency 32B [RCV001424866] Chr16:85911564 [GRCh38]
Chr16:85945170 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.927G>A (p.Arg309=) single nucleotide variant Immunodeficiency 32B [RCV001398090] Chr16:85918742 [GRCh38]
Chr16:85952348 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1008C>T (p.Asn336=) single nucleotide variant Immunodeficiency 32B [RCV001425027] Chr16:85920128 [GRCh38]
Chr16:85953734 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1104+10G>A single nucleotide variant Immunodeficiency 32B [RCV001430790] Chr16:85920234 [GRCh38]
Chr16:85953840 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.858C>T (p.Gly286=) single nucleotide variant Immunodeficiency 32B [RCV001438205] Chr16:85918673 [GRCh38]
Chr16:85952279 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.765C>T (p.Ala255=) single nucleotide variant Immunodeficiency 32B [RCV001435558] Chr16:85918580 [GRCh38]
Chr16:85952186 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1182C>T (p.Pro394=) single nucleotide variant Immunodeficiency 32B [RCV001468535] Chr16:85921183 [GRCh38]
Chr16:85954789 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.6T>C (p.Cys2=) single nucleotide variant IRF8-related disorder [RCV003948460]|Immunodeficiency 32B [RCV001498900] Chr16:85903021 [GRCh38]
Chr16:85936627 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.414C>T (p.Cys138=) single nucleotide variant Immunodeficiency 32B [RCV001519081]|Immunodeficiency 32B [RCV001730794]|Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency [RCV001730795]|not provided [RCV004710289]|not specified [RCV003487383] Chr16:85911625 [GRCh38]
Chr16:85945231 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.721C>T (p.Leu241=) single nucleotide variant Immunodeficiency 32B [RCV001450475] Chr16:85918536 [GRCh38]
Chr16:85952142 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.81T>A (p.Ile27=) single nucleotide variant Immunodeficiency 32B [RCV001398072] Chr16:85903096 [GRCh38]
Chr16:85936702 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.925A>C (p.Arg309=) single nucleotide variant Immunodeficiency 32B [RCV001434670] Chr16:85918740 [GRCh38]
Chr16:85952346 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1068T>C (p.Asp356=) single nucleotide variant Immunodeficiency 32B [RCV001497161] Chr16:85920188 [GRCh38]
Chr16:85953794 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.801G>A (p.Thr267=) single nucleotide variant Immunodeficiency 32B [RCV001435133] Chr16:85918616 [GRCh38]
Chr16:85952222 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.561G>A (p.Pro187=) single nucleotide variant Immunodeficiency 32B [RCV001400638] Chr16:85914480 [GRCh38]
Chr16:85948086 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.*354C>T single nucleotide variant Immunodeficiency 32B [RCV001518208]|not provided [RCV004711702] Chr16:85921636 [GRCh38]
Chr16:85955242 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.45C>T (p.Ile15=) single nucleotide variant Immunodeficiency 32B [RCV001455089] Chr16:85903060 [GRCh38]
Chr16:85936666 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_002163.4(IRF8):c.865G>A (p.Val289Ile) single nucleotide variant Immunodeficiency 32B [RCV002001852] Chr16:85918680 [GRCh38]
Chr16:85952286 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.388_389delinsAA (p.Val130Lys) indel Immunodeficiency 32B [RCV001929905] Chr16:85911599..85911600 [GRCh38]
Chr16:85945205..85945206 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.362A>T (p.Lys121Ile) single nucleotide variant Immunodeficiency 32B [RCV001950677] Chr16:85911573 [GRCh38]
Chr16:85945179 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.429C>T (p.Ile143=) single nucleotide variant Immunodeficiency 32B [RCV001948101] Chr16:85911640 [GRCh38]
Chr16:85945246 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.901G>A (p.Gly301Ser) single nucleotide variant Immunodeficiency 32B [RCV001927417] Chr16:85918716 [GRCh38]
Chr16:85952322 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.568A>C (p.Thr190Pro) single nucleotide variant Immunodeficiency 32B [RCV001909180] Chr16:85914487 [GRCh38]
Chr16:85948093 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1124G>A (p.Arg375Gln) single nucleotide variant Immunodeficiency 32B [RCV002004574] Chr16:85921125 [GRCh38]
Chr16:85954731 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1099G>C (p.Val367Leu) single nucleotide variant Immunodeficiency 32B [RCV001978215] Chr16:85920219 [GRCh38]
Chr16:85953825 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.673G>C (p.Glu225Gln) single nucleotide variant Immunodeficiency 32B [RCV001963433] Chr16:85918488 [GRCh38]
Chr16:85952094 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1261A>G (p.Asn421Asp) single nucleotide variant Immunodeficiency 32B [RCV002036971] Chr16:85921262 [GRCh38]
Chr16:85954868 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.719A>T (p.Lys240Met) single nucleotide variant Immunodeficiency 32B [RCV001954690] Chr16:85918534 [GRCh38]
Chr16:85952140 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.923G>A (p.Gly308Asp) single nucleotide variant Immunodeficiency 32B [RCV001880772] Chr16:85918738 [GRCh38]
Chr16:85952344 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.528C>A (p.Asp176Glu) single nucleotide variant Immunodeficiency 32B [RCV002033421] Chr16:85913211 [GRCh38]
Chr16:85946817 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.851G>A (p.Arg284Gln) single nucleotide variant Immunodeficiency 32B [RCV002001386] Chr16:85918666 [GRCh38]
Chr16:85952272 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.769G>A (p.Ala257Thr) single nucleotide variant Immunodeficiency 32B [RCV001881258] Chr16:85918584 [GRCh38]
Chr16:85952190 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.381T>A (p.Ala127=) single nucleotide variant Immunodeficiency 32B [RCV001925222] Chr16:85911592 [GRCh38]
Chr16:85945198 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.380C>T (p.Ala127Val) single nucleotide variant Immunodeficiency 32B [RCV002028204] Chr16:85911591 [GRCh38]
Chr16:85945197 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.570G>A (p.Thr190=) single nucleotide variant Immunodeficiency 32B [RCV001993846] Chr16:85914489 [GRCh38]
Chr16:85948095 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_002163.4(IRF8):c.497C>T (p.Pro166Leu) single nucleotide variant Immunodeficiency 32B [RCV001882371]|Inborn genetic diseases [RCV004041481] Chr16:85913180 [GRCh38]
Chr16:85946786 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.35A>T (p.Gln12Leu) single nucleotide variant Immunodeficiency 32B [RCV001978245] Chr16:85903050 [GRCh38]
Chr16:85936656 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1162G>A (p.Gly388Ser) single nucleotide variant Immunodeficiency 32B [RCV001922744] Chr16:85921163 [GRCh38]
Chr16:85954769 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.802C>T (p.Arg268Trp) single nucleotide variant Immunodeficiency 32B [RCV001898935] Chr16:85918617 [GRCh38]
Chr16:85952223 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.827G>A (p.Arg276His) single nucleotide variant Immunodeficiency 32B [RCV001938532] Chr16:85918642 [GRCh38]
Chr16:85952248 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1030G>T (p.Gly344Cys) single nucleotide variant Immunodeficiency 32B [RCV001932965] Chr16:85920150 [GRCh38]
Chr16:85953756 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.712G>C (p.Gly238Arg) single nucleotide variant Immunodeficiency 32B [RCV002013558] Chr16:85918527 [GRCh38]
Chr16:85952133 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1190C>T (p.Pro397Leu) single nucleotide variant Immunodeficiency 32B [RCV002019676] Chr16:85921191 [GRCh38]
Chr16:85954797 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.413G>A (p.Cys138Tyr) single nucleotide variant Immunodeficiency 32B [RCV002036424] Chr16:85911624 [GRCh38]
Chr16:85945230 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.601+4C>T single nucleotide variant IRF8-related disorder [RCV003913491]|Immunodeficiency 32B [RCV002048836] Chr16:85914524 [GRCh38]
Chr16:85948130 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_002163.4(IRF8):c.530G>C (p.Trp177Ser) single nucleotide variant Immunodeficiency 32B [RCV001982129] Chr16:85913213 [GRCh38]
Chr16:85946819 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.369C>T (p.Gly123=) single nucleotide variant Immunodeficiency 32B [RCV001933145] Chr16:85911580 [GRCh38]
Chr16:85945186 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_002163.4(IRF8):c.601+1G>A single nucleotide variant Immunodeficiency 32B [RCV002029873] Chr16:85914521 [GRCh38]
Chr16:85948127 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.22C>T (p.Arg8Trp) single nucleotide variant Immunodeficiency 32B [RCV001990157] Chr16:85903037 [GRCh38]
Chr16:85936643 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.227C>T (p.Ala76Val) single nucleotide variant Immunodeficiency 32B [RCV001952983] Chr16:85909042 [GRCh38]
Chr16:85942648 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.418C>T (p.Arg140Cys) single nucleotide variant Immunodeficiency 32B [RCV001876759] Chr16:85911629 [GRCh38]
Chr16:85945235 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.104T>C (p.Met35Thr) single nucleotide variant Immunodeficiency 32B [RCV002027744] Chr16:85903119 [GRCh38]
Chr16:85936725 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.19G>A (p.Gly7Ser) single nucleotide variant Immunodeficiency 32B [RCV001991421] Chr16:85903034 [GRCh38]
Chr16:85936640 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.738C>T (p.Gly246=) single nucleotide variant Immunodeficiency 32B [RCV001878865] Chr16:85918553 [GRCh38]
Chr16:85952159 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.759G>A (p.Pro253=) single nucleotide variant Immunodeficiency 32B [RCV002075799]|not provided [RCV004706322] Chr16:85918574 [GRCh38]
Chr16:85952180 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1104+40del deletion Immunodeficiency 32B [RCV002127330] Chr16:85920240 [GRCh38]
Chr16:85953846 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.602-19G>A single nucleotide variant Immunodeficiency 32B [RCV002168708] Chr16:85918398 [GRCh38]
Chr16:85952004 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.477C>T (p.Ile159=) single nucleotide variant Immunodeficiency 32B [RCV002085449] Chr16:85913160 [GRCh38]
Chr16:85946766 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.988+9C>T single nucleotide variant Immunodeficiency 32B [RCV002109002] Chr16:85918812 [GRCh38]
Chr16:85952418 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.601+14C>T single nucleotide variant Immunodeficiency 32B [RCV002191836] Chr16:85914534 [GRCh38]
Chr16:85948140 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.723G>C (p.Leu241=) single nucleotide variant Immunodeficiency 32B [RCV002165252] Chr16:85918538 [GRCh38]
Chr16:85952144 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.554-16T>G single nucleotide variant Immunodeficiency 32B [RCV002191330] Chr16:85914457 [GRCh38]
Chr16:85948063 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1119T>C (p.Tyr373=) single nucleotide variant Immunodeficiency 32B [RCV002134988] Chr16:85921120 [GRCh38]
Chr16:85954726 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.495G>A (p.Pro165=) single nucleotide variant Immunodeficiency 32B [RCV002117327] Chr16:85913178 [GRCh38]
Chr16:85946784 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.75A>G (p.Gly25=) single nucleotide variant Immunodeficiency 32B [RCV002128231] Chr16:85903090 [GRCh38]
Chr16:85936696 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.358+18G>A single nucleotide variant Immunodeficiency 32B [RCV002096510] Chr16:85909191 [GRCh38]
Chr16:85942797 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1104+39_1104+40del deletion Immunodeficiency 32B [RCV002128403] Chr16:85920240..85920241 [GRCh38]
Chr16:85953846..85953847 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.553+10G>A single nucleotide variant Immunodeficiency 32B [RCV002196406] Chr16:85913246 [GRCh38]
Chr16:85946852 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1104+27_1104+40del deletion Immunodeficiency 32B [RCV002174012] Chr16:85920240..85920253 [GRCh38]
Chr16:85953846..85953859 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.828C>T (p.Arg276=) single nucleotide variant Immunodeficiency 32B [RCV002173153] Chr16:85918643 [GRCh38]
Chr16:85952249 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1105-6A>G single nucleotide variant Immunodeficiency 32B [RCV002112924] Chr16:85921100 [GRCh38]
Chr16:85954706 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1275C>G (p.Thr425=) single nucleotide variant Immunodeficiency 32B [RCV002158375] Chr16:85921276 [GRCh38]
Chr16:85954882 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1266A>G (p.Gln422=) single nucleotide variant Immunodeficiency 32B [RCV002156809] Chr16:85921267 [GRCh38]
Chr16:85954873 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.553+16_553+26del deletion Immunodeficiency 32B [RCV002083303] Chr16:85913251..85913261 [GRCh38]
Chr16:85946857..85946867 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.585C>T (p.Tyr195=) single nucleotide variant Immunodeficiency 32B [RCV002102471] Chr16:85914504 [GRCh38]
Chr16:85948110 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_002163.4(IRF8):c.666C>T (p.Thr222=) single nucleotide variant Immunodeficiency 32B [RCV002201733] Chr16:85918481 [GRCh38]
Chr16:85952087 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1104+29_1104+40del deletion Immunodeficiency 32B [RCV002100373] Chr16:85920240..85920251 [GRCh38]
Chr16:85953846..85953857 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.417T>G (p.Gly139=) single nucleotide variant Immunodeficiency 32B [RCV002160223] Chr16:85911628 [GRCh38]
Chr16:85945234 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.660C>T (p.Thr220=) single nucleotide variant Immunodeficiency 32B [RCV002160692] Chr16:85918475 [GRCh38]
Chr16:85952081 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.359-7T>A single nucleotide variant Immunodeficiency 32B [RCV002181666] Chr16:85911563 [GRCh38]
Chr16:85945169 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1081C>G (p.Arg361Gly) single nucleotide variant Immunodeficiency 32B [RCV003774749]|See cases [RCV002252380] Chr16:85920201 [GRCh38]
Chr16:85953807 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_002163.4(IRF8):c.371T>A (p.Val124Glu) single nucleotide variant Inborn genetic diseases [RCV003285282] Chr16:85911582 [GRCh38]
Chr16:85945188 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.343G>C (p.Glu115Gln) single nucleotide variant Immunodeficiency 32B [RCV002304126] Chr16:85909158 [GRCh38]
Chr16:85942764 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1068T>A (p.Asp356Glu) single nucleotide variant Immunodeficiency 32B [RCV002304812] Chr16:85920188 [GRCh38]
Chr16:85953794 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.250T>C (p.Cys84Arg) single nucleotide variant Immunodeficiency 32B [RCV002304976] Chr16:85909065 [GRCh38]
Chr16:85942671 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.604T>G (p.Phe202Val) single nucleotide variant Immunodeficiency 32B [RCV002298331] Chr16:85918419 [GRCh38]
Chr16:85952025 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.780C>A (p.Ser260Arg) single nucleotide variant Immunodeficiency 32B [RCV002299430] Chr16:85918595 [GRCh38]
Chr16:85952201 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1173G>A (p.Met391Ile) single nucleotide variant Immunodeficiency 32B [RCV002302038] Chr16:85921174 [GRCh38]
Chr16:85954780 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.634G>T (p.Gly212Trp) single nucleotide variant Immunodeficiency 32B [RCV002294976] Chr16:85918449 [GRCh38]
Chr16:85952055 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.569C>A (p.Thr190Lys) single nucleotide variant Immunodeficiency 32B [RCV003015952] Chr16:85914488 [GRCh38]
Chr16:85948094 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1239C>G (p.His413Gln) single nucleotide variant Inborn genetic diseases [RCV002793684] Chr16:85921240 [GRCh38]
Chr16:85954846 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.601+11G>C single nucleotide variant Immunodeficiency 32B [RCV002948020] Chr16:85914531 [GRCh38]
Chr16:85948137 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.870G>A (p.Lys290=) single nucleotide variant Immunodeficiency 32B [RCV003074817] Chr16:85918685 [GRCh38]
Chr16:85952291 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.601+15G>A single nucleotide variant Immunodeficiency 32B [RCV002947140] Chr16:85914535 [GRCh38]
Chr16:85948141 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.81T>C (p.Ile27=) single nucleotide variant Immunodeficiency 32B [RCV002756638] Chr16:85903096 [GRCh38]
Chr16:85936702 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.377C>G (p.Thr126Ser) single nucleotide variant Immunodeficiency 32B [RCV003075833] Chr16:85911588 [GRCh38]
Chr16:85945194 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1235C>T (p.Ser412Leu) single nucleotide variant Immunodeficiency 32B [RCV003777722]|Inborn genetic diseases [RCV002752295] Chr16:85921236 [GRCh38]
Chr16:85954842 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.835C>T (p.Leu279=) single nucleotide variant Immunodeficiency 32B [RCV002731401] Chr16:85918650 [GRCh38]
Chr16:85952256 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.952G>A (p.Val318Met) single nucleotide variant Inborn genetic diseases [RCV002773194] Chr16:85918767 [GRCh38]
Chr16:85952373 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.419G>T (p.Arg140Leu) single nucleotide variant Immunodeficiency 32B [RCV003016352] Chr16:85911630 [GRCh38]
Chr16:85945236 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.761C>T (p.Pro254Leu) single nucleotide variant Inborn genetic diseases [RCV002861189] Chr16:85918576 [GRCh38]
Chr16:85952182 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.967G>C (p.Asp323His) single nucleotide variant Immunodeficiency 32B [RCV002838355] Chr16:85918782 [GRCh38]
Chr16:85952388 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1227T>C (p.Ile409=) single nucleotide variant Immunodeficiency 32B [RCV002616160] Chr16:85921228 [GRCh38]
Chr16:85954834 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.358+7A>T single nucleotide variant Immunodeficiency 32B [RCV002863687] Chr16:85909180 [GRCh38]
Chr16:85942786 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.381T>G (p.Ala127=) single nucleotide variant Immunodeficiency 32B [RCV002785820] Chr16:85911592 [GRCh38]
Chr16:85945198 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1074C>G (p.Ala358=) single nucleotide variant Immunodeficiency 32B [RCV002740234] Chr16:85920194 [GRCh38]
Chr16:85953800 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.712G>A (p.Gly238Ser) single nucleotide variant Immunodeficiency 32B [RCV002928052] Chr16:85918527 [GRCh38]
Chr16:85952133 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.808C>T (p.Leu270=) single nucleotide variant Immunodeficiency 32B [RCV002889309] Chr16:85918623 [GRCh38]
Chr16:85952229 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1191G>A (p.Pro397=) single nucleotide variant Immunodeficiency 32B [RCV002571752] Chr16:85921192 [GRCh38]
Chr16:85954798 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.388G>A (p.Val130Met) single nucleotide variant Immunodeficiency 32B [RCV002923573] Chr16:85911599 [GRCh38]
Chr16:85945205 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.967G>A (p.Asp323Asn) single nucleotide variant Immunodeficiency 32B [RCV002910151] Chr16:85918782 [GRCh38]
Chr16:85952388 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.36G>A (p.Gln12=) single nucleotide variant Immunodeficiency 32B [RCV002846563] Chr16:85903051 [GRCh38]
Chr16:85936657 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1105-16T>C single nucleotide variant Immunodeficiency 32B [RCV002636293] Chr16:85921090 [GRCh38]
Chr16:85954696 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1160C>G (p.Ala387Gly) single nucleotide variant Immunodeficiency 32B [RCV002795871] Chr16:85921161 [GRCh38]
Chr16:85954767 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1105-12C>T single nucleotide variant Immunodeficiency 32B [RCV002659113] Chr16:85921094 [GRCh38]
Chr16:85954700 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.909C>T (p.Ala303=) single nucleotide variant Immunodeficiency 32B [RCV002592240] Chr16:85918724 [GRCh38]
Chr16:85952330 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.601+5G>A single nucleotide variant Immunodeficiency 32B [RCV002637283] Chr16:85914525 [GRCh38]
Chr16:85948131 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.601+14C>G single nucleotide variant Immunodeficiency 32B [RCV003002067] Chr16:85914534 [GRCh38]
Chr16:85948140 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.762G>A (p.Pro254=) single nucleotide variant Immunodeficiency 32B [RCV002976607] Chr16:85918577 [GRCh38]
Chr16:85952183 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.175-8T>C single nucleotide variant Immunodeficiency 32B [RCV002848247] Chr16:85908982 [GRCh38]
Chr16:85942588 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.87G>A (p.Glu29=) single nucleotide variant Immunodeficiency 32B [RCV002621192] Chr16:85903102 [GRCh38]
Chr16:85936708 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.554-6C>T single nucleotide variant Immunodeficiency 32B [RCV002866183] Chr16:85914467 [GRCh38]
Chr16:85948073 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1183G>A (p.Glu395Lys) single nucleotide variant Immunodeficiency 32B [RCV002695173] Chr16:85921184 [GRCh38]
Chr16:85954790 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1151G>C (p.Ser384Thr) single nucleotide variant Immunodeficiency 32B [RCV002639299] Chr16:85921152 [GRCh38]
Chr16:85954758 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.555C>T (p.Gly185=) single nucleotide variant Immunodeficiency 32B [RCV002627347] Chr16:85914474 [GRCh38]
Chr16:85948080 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.988+13G>A single nucleotide variant Immunodeficiency 32B [RCV002918596] Chr16:85918816 [GRCh38]
Chr16:85952422 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.569C>G (p.Thr190Arg) single nucleotide variant Immunodeficiency 32B [RCV002624028] Chr16:85914488 [GRCh38]
Chr16:85948094 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.417T>A (p.Gly139=) single nucleotide variant Immunodeficiency 32B [RCV002982760] Chr16:85911628 [GRCh38]
Chr16:85945234 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1103A>G (p.Gln368Arg) single nucleotide variant Immunodeficiency 32B [RCV002766425] Chr16:85920223 [GRCh38]
Chr16:85953829 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.709C>A (p.Pro237Thr) single nucleotide variant Immunodeficiency 32B [RCV003040633] Chr16:85918524 [GRCh38]
Chr16:85952130 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.358+9C>T single nucleotide variant Immunodeficiency 32B [RCV002932310] Chr16:85909182 [GRCh38]
Chr16:85942788 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.888C>T (p.Arg296=) single nucleotide variant Immunodeficiency 32B [RCV002982716] Chr16:85918703 [GRCh38]
Chr16:85952309 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.498G>A (p.Pro166=) single nucleotide variant Immunodeficiency 32B [RCV003084391] Chr16:85913181 [GRCh38]
Chr16:85946787 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.175-3C>T single nucleotide variant Immunodeficiency 32B [RCV003006007] Chr16:85908987 [GRCh38]
Chr16:85942593 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.906C>T (p.Asn302=) single nucleotide variant Immunodeficiency 32B [RCV002623494] Chr16:85918721 [GRCh38]
Chr16:85952327 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.835C>A (p.Leu279Met) single nucleotide variant Immunodeficiency 32B [RCV002932522] Chr16:85918650 [GRCh38]
Chr16:85952256 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1213A>C (p.Met405Leu) single nucleotide variant Immunodeficiency 32B [RCV002643995] Chr16:85921214 [GRCh38]
Chr16:85954820 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.819C>T (p.His273=) single nucleotide variant Immunodeficiency 32B [RCV002575692] Chr16:85918634 [GRCh38]
Chr16:85952240 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.550A>G (p.Thr184Ala) single nucleotide variant Immunodeficiency 32B [RCV002895575] Chr16:85913233 [GRCh38]
Chr16:85946839 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.130G>A (p.Gly44Ser) single nucleotide variant Immunodeficiency 32B [RCV003027722] Chr16:85903145 [GRCh38]
Chr16:85936751 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1020G>T (p.Arg340=) single nucleotide variant Immunodeficiency 32B [RCV003045366] Chr16:85920140 [GRCh38]
Chr16:85953746 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.376A>G (p.Thr126Ala) single nucleotide variant Immunodeficiency 32B [RCV003061242] Chr16:85911587 [GRCh38]
Chr16:85945193 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1116G>A (p.Leu372=) single nucleotide variant Immunodeficiency 32B [RCV002647297] Chr16:85921117 [GRCh38]
Chr16:85954723 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.752G>C (p.Arg251Pro) single nucleotide variant Inborn genetic diseases [RCV002855206] Chr16:85918567 [GRCh38]
Chr16:85952173 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.588C>T (p.Asp196=) single nucleotide variant Immunodeficiency 32B [RCV002938852] Chr16:85914507 [GRCh38]
Chr16:85948113 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.16GGT[1] (p.Gly7del) microsatellite Immunodeficiency 32B [RCV003028988] Chr16:85903030..85903032 [GRCh38]
Chr16:85936636..85936638 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.731C>T (p.Pro244Leu) single nucleotide variant Immunodeficiency 32B [RCV002647446] Chr16:85918546 [GRCh38]
Chr16:85952152 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.288G>A (p.Thr96=) single nucleotide variant Immunodeficiency 32B [RCV002579182] Chr16:85909103 [GRCh38]
Chr16:85942709 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.729G>A (p.Gly243=) single nucleotide variant Immunodeficiency 32B [RCV002988398] Chr16:85918544 [GRCh38]
Chr16:85952150 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.653A>G (p.Gln218Arg) single nucleotide variant Immunodeficiency 32B [RCV003049850] Chr16:85918468 [GRCh38]
Chr16:85952074 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.459C>T (p.Asp153=) single nucleotide variant Immunodeficiency 32B [RCV002603728] Chr16:85913142 [GRCh38]
Chr16:85946748 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.553+18A>G single nucleotide variant Immunodeficiency 32B [RCV003093641] Chr16:85913254 [GRCh38]
Chr16:85946860 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1065G>C (p.Pro355=) single nucleotide variant Immunodeficiency 32B [RCV002587784] Chr16:85920185 [GRCh38]
Chr16:85953791 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.102C>G (p.Ser34Arg) single nucleotide variant Immunodeficiency 32B [RCV002607674] Chr16:85903117 [GRCh38]
Chr16:85936723 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.358+16G>C single nucleotide variant Immunodeficiency 32B [RCV003051911] Chr16:85909189 [GRCh38]
Chr16:85942795 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.893T>C (p.Phe298Ser) single nucleotide variant Immunodeficiency 32B [RCV003792395] Chr16:85918708 [GRCh38]
Chr16:85952314 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1 copy number loss not provided [RCV003483302] Chr16:84555718..87910245 [GRCh37]
Chr16:16q24.1-24.2		 pathogenic
NM_002163.4(IRF8):c.989-33G>C single nucleotide variant not specified [RCV003397106] Chr16:85920076 [GRCh38]
Chr16:85953682 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.1215G>A (p.Met405Ile) single nucleotide variant Immunodeficiency 32B [RCV003797811] Chr16:85921216 [GRCh38]
Chr16:85954822 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.903C>A (p.Gly301=) single nucleotide variant Immunodeficiency 32B [RCV003788412] Chr16:85918718 [GRCh38]
Chr16:85952324 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1104+12C>T single nucleotide variant Immunodeficiency 32B [RCV003796170] Chr16:85920236 [GRCh38]
Chr16:85953842 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.-1-220_-1-219insGGGCTGCAGG insertion not specified [RCV003490333] Chr16:85902786..85902787 [GRCh38]
Chr16:85936392..85936393 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.293G>A (p.Arg98Gln) single nucleotide variant Immunodeficiency 32B [RCV003807301] Chr16:85909108 [GRCh38]
Chr16:85942714 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.576C>T (p.Tyr192=) single nucleotide variant Immunodeficiency 32B [RCV003791278] Chr16:85914495 [GRCh38]
Chr16:85948101 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1118A>G (p.Tyr373Cys) single nucleotide variant Immunodeficiency 32B [RCV003795486] Chr16:85921119 [GRCh38]
Chr16:85954725 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1193dup (p.Pro399fs) duplication Immunodeficiency 32B [RCV003796749] Chr16:85921192..85921193 [GRCh38]
Chr16:85954798..85954799 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1105-4C>G single nucleotide variant Immunodeficiency 32B [RCV003784112] Chr16:85921102 [GRCh38]
Chr16:85954708 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.582C>T (p.Thr194=) single nucleotide variant Immunodeficiency 32B [RCV003806054] Chr16:85914501 [GRCh38]
Chr16:85948107 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.716C>T (p.Thr239Ile) single nucleotide variant Immunodeficiency 32B [RCV003789233] Chr16:85918531 [GRCh38]
Chr16:85952137 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.570G>C (p.Thr190=) single nucleotide variant Immunodeficiency 32B [RCV003793134] Chr16:85914489 [GRCh38]
Chr16:85948095 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.358+4A>T single nucleotide variant Immunodeficiency 32B [RCV003795999] Chr16:85909177 [GRCh38]
Chr16:85942783 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1086C>A (p.Ser362=) single nucleotide variant Immunodeficiency 32B [RCV003794558] Chr16:85920206 [GRCh38]
Chr16:85953812 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.564G>A (p.Leu188=) single nucleotide variant Immunodeficiency 32B [RCV003781332] Chr16:85914483 [GRCh38]
Chr16:85948089 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.554-14T>C single nucleotide variant Immunodeficiency 32B [RCV003805025] Chr16:85914459 [GRCh38]
Chr16:85948065 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.989-8C>T single nucleotide variant Immunodeficiency 32B [RCV003780280] Chr16:85920101 [GRCh38]
Chr16:85953707 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.853C>G (p.Gln285Glu) single nucleotide variant Immunodeficiency 32B [RCV003792192] Chr16:85918668 [GRCh38]
Chr16:85952274 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.46G>A (p.Glu16Lys) single nucleotide variant Immunodeficiency 32B [RCV003790283] Chr16:85903061 [GRCh38]
Chr16:85936667 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.602-11C>T single nucleotide variant Immunodeficiency 32B [RCV003805983] Chr16:85918406 [GRCh38]
Chr16:85952012 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.907G>A (p.Ala303Thr) single nucleotide variant Immunodeficiency 32B [RCV003789749] Chr16:85918722 [GRCh38]
Chr16:85952328 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.56A>G (p.Asp19Gly) single nucleotide variant Immunodeficiency 32B [RCV003795304] Chr16:85903071 [GRCh38]
Chr16:85936677 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.-1-232_-1-223dup duplication not specified [RCV003490345] Chr16:85902776..85902777 [GRCh38]
Chr16:85936382..85936383 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.-1-228_-1-219dup duplication not specified [RCV003490416] Chr16:85902783..85902784 [GRCh38]
Chr16:85936389..85936390 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.315G>A (p.Glu105=) single nucleotide variant Immunodeficiency 32B [RCV003792477] Chr16:85909130 [GRCh38]
Chr16:85942736 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1142C>G (p.Ala381Gly) single nucleotide variant Immunodeficiency 32B [RCV003805731] Chr16:85921143 [GRCh38]
Chr16:85954749 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.910G>A (p.Val304Met) single nucleotide variant Immunodeficiency 32B [RCV003787005] Chr16:85918725 [GRCh38]
Chr16:85952331 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.873G>T (p.Arg291=) single nucleotide variant Immunodeficiency 32B [RCV003780637] Chr16:85918688 [GRCh38]
Chr16:85952294 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.510G>C (p.Arg170=) single nucleotide variant Immunodeficiency 32B [RCV003785811] Chr16:85913193 [GRCh38]
Chr16:85946799 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.-1-232T>A single nucleotide variant not specified [RCV003489280] Chr16:85902783 [GRCh38]
Chr16:85936389 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.668G>T (p.Cys223Phe) single nucleotide variant Immunodeficiency 32B [RCV003806957] Chr16:85918483 [GRCh38]
Chr16:85952089 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.602-20C>T single nucleotide variant Immunodeficiency 32B [RCV003782334] Chr16:85918397 [GRCh38]
Chr16:85952003 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1274C>T (p.Thr425Ile) single nucleotide variant Immunodeficiency 32B [RCV003794599] Chr16:85921275 [GRCh38]
Chr16:85954881 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.175-14G>A single nucleotide variant Immunodeficiency 32B [RCV003785227] Chr16:85908976 [GRCh38]
Chr16:85942582 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1116G>C (p.Leu372=) single nucleotide variant Immunodeficiency 32B [RCV003796341] Chr16:85921117 [GRCh38]
Chr16:85954723 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.552A>G (p.Thr184=) single nucleotide variant Immunodeficiency 32B [RCV003795150] Chr16:85913235 [GRCh38]
Chr16:85946841 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.623G>C (p.Ser208Thr) single nucleotide variant Immunodeficiency 32B [RCV003807018] Chr16:85918438 [GRCh38]
Chr16:85952044 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.448-3C>T single nucleotide variant Immunodeficiency 32B [RCV003788792] Chr16:85913128 [GRCh38]
Chr16:85946734 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.537G>T (p.Ala179=) single nucleotide variant Immunodeficiency 32B [RCV003784409] Chr16:85913220 [GRCh38]
Chr16:85946826 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.972C>T (p.Thr324=) single nucleotide variant Immunodeficiency 32B [RCV003788895] Chr16:85918787 [GRCh38]
Chr16:85952393 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.748G>C (p.Val250Leu) single nucleotide variant Immunodeficiency 32B [RCV003794817] Chr16:85918563 [GRCh38]
Chr16:85952169 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.-1-219_-1-218insGGCTGCAGGA insertion not specified [RCV003489171] Chr16:85902796..85902797 [GRCh38]
Chr16:85936402..85936403 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.1272C>T (p.Ile424=) single nucleotide variant Immunodeficiency 32B [RCV003792068] Chr16:85921273 [GRCh38]
Chr16:85954879 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1037T>C (p.Val346Ala) single nucleotide variant Immunodeficiency 32B [RCV003804648] Chr16:85920157 [GRCh38]
Chr16:85953763 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.554-9C>T single nucleotide variant Immunodeficiency 32B [RCV003788476] Chr16:85914464 [GRCh38]
Chr16:85948070 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.59G>A (p.Ser20Asn) single nucleotide variant Immunodeficiency 32B [RCV003789937] Chr16:85903074 [GRCh38]
Chr16:85936680 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.963C>G (p.Val321=) single nucleotide variant Immunodeficiency 32B [RCV003781750] Chr16:85918778 [GRCh38]
Chr16:85952384 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.900C>T (p.Ser300=) single nucleotide variant Immunodeficiency 32B [RCV003780417] Chr16:85918715 [GRCh38]
Chr16:85952321 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.966C>T (p.Phe322=) single nucleotide variant IRF8-related disorder [RCV003949018]|Immunodeficiency 32B [RCV003781902] Chr16:85918781 [GRCh38]
Chr16:85952387 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.-1-220_-1-219insCGGCTGCAGG insertion not specified [RCV003490323] Chr16:85902786..85902787 [GRCh38]
Chr16:85936392..85936393 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.1028A>T (p.Asp343Val) single nucleotide variant Immunodeficiency 32B [RCV003783031] Chr16:85920148 [GRCh38]
Chr16:85953754 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.359-100T>C single nucleotide variant not specified [RCV003490395] Chr16:85911470 [GRCh38]
Chr16:85945076 [GRCh37]
Chr16:16q24.1		 benign
NM_002163.4(IRF8):c.1105-6A>T single nucleotide variant Immunodeficiency 32B [RCV003793320] Chr16:85921100 [GRCh38]
Chr16:85954706 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.448-12C>G single nucleotide variant Immunodeficiency 32B [RCV003789526] Chr16:85913119 [GRCh38]
Chr16:85946725 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.602-13C>G single nucleotide variant Immunodeficiency 32B [RCV003789639] Chr16:85918404 [GRCh38]
Chr16:85952010 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.988+12C>T single nucleotide variant Immunodeficiency 32B [RCV003781657] Chr16:85918815 [GRCh38]
Chr16:85952421 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.358+4A>C single nucleotide variant Immunodeficiency 32B [RCV003810124] Chr16:85909177 [GRCh38]
Chr16:85942783 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.553+16C>G single nucleotide variant Immunodeficiency 32B [RCV003810125] Chr16:85913252 [GRCh38]
Chr16:85946858 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1082G>C (p.Arg361Pro) single nucleotide variant Immunodeficiency 32B [RCV003799080] Chr16:85920202 [GRCh38]
Chr16:85953808 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.560C>T (p.Pro187Leu) single nucleotide variant Immunodeficiency 32B [RCV003800238] Chr16:85914479 [GRCh38]
Chr16:85948085 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.98A>G (p.Lys33Arg) single nucleotide variant Immunodeficiency 32B [RCV003808407] Chr16:85903113 [GRCh38]
Chr16:85936719 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.435G>A (p.Glu145=) single nucleotide variant Immunodeficiency 32B [RCV003798424] Chr16:85911646 [GRCh38]
Chr16:85945252 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.359-16G>A single nucleotide variant Immunodeficiency 32B [RCV003799586] Chr16:85911554 [GRCh38]
Chr16:85945160 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.682C>A (p.Arg228Ser) single nucleotide variant Immunodeficiency 32B [RCV003812980] Chr16:85918497 [GRCh38]
Chr16:85952103 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.498G>T (p.Pro166=) single nucleotide variant Immunodeficiency 32B [RCV003799457] Chr16:85913181 [GRCh38]
Chr16:85946787 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.461A>T (p.Asp154Val) single nucleotide variant Immunodeficiency 32B [RCV003798401] Chr16:85913144 [GRCh38]
Chr16:85946750 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.988+12C>A single nucleotide variant Immunodeficiency 32B [RCV003808137] Chr16:85918815 [GRCh38]
Chr16:85952421 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1176G>T (p.Gln392His) single nucleotide variant Immunodeficiency 32B [RCV003818055] Chr16:85921177 [GRCh38]
Chr16:85954783 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.966C>G (p.Phe322Leu) single nucleotide variant Immunodeficiency 32B [RCV003813440] Chr16:85918781 [GRCh38]
Chr16:85952387 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.603A>G (p.Ala201=) single nucleotide variant Immunodeficiency 32B [RCV003800093] Chr16:85918418 [GRCh38]
Chr16:85952024 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.699G>T (p.Gln233His) single nucleotide variant Immunodeficiency 32B [RCV003798015] Chr16:85918514 [GRCh38]
Chr16:85952120 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.174+18C>T single nucleotide variant Immunodeficiency 32B [RCV003798121] Chr16:85903207 [GRCh38]
Chr16:85936813 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.716C>G (p.Thr239Ser) single nucleotide variant Immunodeficiency 32B [RCV003798733] Chr16:85918531 [GRCh38]
Chr16:85952137 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.519C>G (p.Leu173=) single nucleotide variant Immunodeficiency 32B [RCV003813570] Chr16:85913202 [GRCh38]
Chr16:85946808 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1033A>G (p.Arg345Gly) single nucleotide variant Immunodeficiency 32B [RCV003813406] Chr16:85920153 [GRCh38]
Chr16:85953759 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.627C>T (p.Phe209=) single nucleotide variant Immunodeficiency 32B [RCV003803946] Chr16:85918442 [GRCh38]
Chr16:85952048 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.642G>A (p.Lys214=) single nucleotide variant Immunodeficiency 32B [RCV003803240] Chr16:85918457 [GRCh38]
Chr16:85952063 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.636G>T (p.Gly212=) single nucleotide variant Immunodeficiency 32B [RCV003803783] Chr16:85918451 [GRCh38]
Chr16:85952057 [GRCh37]
Chr16:16q24.1		 likely benign
NM_002163.4(IRF8):c.1200C>T (p.Asp400=) single nucleotide variant Immunodeficiency 32B [RCV003802735] Chr16:85921201 [GRCh38]
Chr16:85954807 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q24.1(chr16:85491404-86524881)x3 copy number gain not specified [RCV003987164] Chr16:85491404..86524881 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.-11_-2+1del microsatellite Immunodeficiency 32B [RCV003988949] Chr16:85899202..85899212 [GRCh38]
Chr16:85932808..85932818 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.970A>G (p.Thr324Ala) single nucleotide variant Immunodeficiency 32B [RCV003990183] Chr16:85918785 [GRCh38]
Chr16:85952391 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.1173dup (p.Gln392fs) duplication not provided [RCV003887460] Chr16:85921173..85921174 [GRCh38]
Chr16:85954779..85954780 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_002163.4(IRF8):c.624C>G (p.Ser208Arg) single nucleotide variant Inborn genetic diseases [RCV004403278] Chr16:85918439 [GRCh38]
Chr16:85952045 [GRCh37]
Chr16:16q24.1		 uncertain significance
NC_000016.9:g.(?_85936622)_(85954888_?)del deletion Immunodeficiency 32B [RCV004582760] Chr16:85936622..85954888 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.712G>T (p.Gly238Cys) single nucleotide variant Inborn genetic diseases [RCV004633196] Chr16:85918527 [GRCh38]
Chr16:85952133 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.850C>G (p.Arg284Gly) single nucleotide variant Inborn genetic diseases [RCV004633197] Chr16:85918665 [GRCh38]
Chr16:85952271 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_002163.4(IRF8):c.53T>C (p.Ile18Thr) single nucleotide variant not provided [RCV004722711] Chr16:85903068 [GRCh38]
Chr16:85936674 [GRCh37]
Chr16:16q24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3714
Count of miRNA genes:1127
Interacting mature miRNAs:1410
Transcripts:ENST00000268638, ENST00000562492, ENST00000563180, ENST00000564056, ENST00000564617, ENST00000564803, ENST00000565552, ENST00000566369, ENST00000569145, ENST00000569607, ENST00000570088
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407109571GWAS758547_Hneutrophil percentage of leukocytes QTL GWAS758547 (human)7e-40neutrophil percentage of leukocytesblood neutrophil count to total leukocyte count ratio (CMO:0000370)168591629085916291Human
407173636GWAS822612_Hmonocyte count QTL GWAS822612 (human)1e-16monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591934585919346Human
407173442GWAS822418_Hmonocyte count QTL GWAS822418 (human)5e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591867485918675Human
407109573GWAS758549_Hneutrophil percentage of leukocytes QTL GWAS758549 (human)2e-27neutrophil percentage of leukocytesblood neutrophil count to total leukocyte count ratio (CMO:0000370)168592034985920350Human
407214989GWAS863965_Hmonocyte count QTL GWAS863965 (human)2e-63monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591853985918540Human
407388353GWAS1037329_Hgranulocyte percentage of myeloid white cells QTL GWAS1037329 (human)6e-137granulocyte percentage of myeloid white cells168591386985913870Human
407388738GWAS1037714_Hmonocyte count QTL GWAS1037714 (human)6e-55monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591121785911218Human
407388739GWAS1037715_Hmonocyte count QTL GWAS1037715 (human)5e-105monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591386985913870Human
407406211GWAS1055187_Hmonocyte count QTL GWAS1055187 (human)3e-13monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591414585914146Human
407214990GWAS863966_Hmonocyte count QTL GWAS863966 (human)6e-20monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591867485918675Human
406958092GWAS607068_Hgranulocyte percentage of myeloid white cells QTL GWAS607068 (human)8e-131granulocyte percentage of myeloid white cells168590337285903373Human
406912910GWAS561886_Hchronic lymphocytic leukemia QTL GWAS561886 (human)3e-09chronic lymphocytic leukemia168591083385910834Human
407231317GWAS880293_Hmonocyte count QTL GWAS880293 (human)3e-143monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168590265785902658Human
407182417GWAS831393_Hmonocyte measurement QTL GWAS831393 (human)1e-14monocyte measurement168591386985913870Human
406934103GWAS583079_Hthyroid peroxidase antibody measurement, anti-thyroglobulin antibody measurement QTL GWAS583079 (human)5e-08thyroid peroxidase antibody measurement, anti-thyroglobulin antibody measurement168591164385911644Human
407184733GWAS833709_Hmonocyte measurement QTL GWAS833709 (human)3e-20monocyte measurement168591386985913870Human
407015896GWAS664872_Hneutrophil count QTL GWAS664872 (human)2e-43neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)168590227285902273Human
406994976GWAS643952_HOral ulcer QTL GWAS643952 (human)6e-16Oral ulcer168591807685918077Human
406963493GWAS612469_Hneutrophil count, eosinophil count QTL GWAS612469 (human)1e-15eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)168590337285903373Human
407388652GWAS1037628_Hmonocyte count QTL GWAS1037628 (human)0.000008monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591284485912845Human
406927652GWAS576628_Hhigh density lipoprotein cholesterol measurement QTL GWAS576628 (human)7e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)168591765285917653Human
407245472GWAS894448_Hmonocyte count QTL GWAS894448 (human)3e-45monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591164385911644Human
406992420GWAS641396_Himmunoglobulin isotype switching measurement QTL GWAS641396 (human)3e-11immunoglobulin isotype switching measurement168591959085919591Human
407238626GWAS887602_Hlymphocyte:monocyte ratio QTL GWAS887602 (human)1e-44lymphocyte:monocyte ratio168591164385911644Human
407115118GWAS764094_Hneutrophil count QTL GWAS764094 (human)3e-31neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)168590498985904990Human
407406754GWAS1055730_Hmonocyte percentage of leukocytes QTL GWAS1055730 (human)2e-31monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)168591386985913870Human
407361003GWAS1009979_Hneutrophil count QTL GWAS1009979 (human)1e-25neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)168591629085916291Human
407364458GWAS1013434_Hmonocyte percentage of leukocytes QTL GWAS1013434 (human)5e-153monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)168591386985913870Human
407364457GWAS1013433_Hmonocyte percentage of leukocytes QTL GWAS1013433 (human)9e-81monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)168591121785911218Human
406967600GWAS616576_Hgranulocyte count QTL GWAS616576 (human)8e-16granulocyte countblood granulocyte count (CMO:0000111)168590337285903373Human
407063153GWAS712129_Hmonocyte percentage of leukocytes QTL GWAS712129 (human)6e-87monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)168590986085909861Human
407063152GWAS712128_Hmonocyte percentage of leukocytes QTL GWAS712128 (human)4e-27monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)168590160585901606Human
407056112GWAS705088_Hmonocyte count QTL GWAS705088 (human)7e-389monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591223385912234Human
406966386GWAS615362_Hmonocyte count QTL GWAS615362 (human)3e-16monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)168591284485912845Human
406989494GWAS638470_Hgestational age, birth measurement QTL GWAS638470 (human)0.000005gestational age, birth measurementlitter measurement (CMO:0000641)168590816885908169Human
407006136GWAS655112_Hneutrophil count QTL GWAS655112 (human)3e-45neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)168590337285903373Human
407390132GWAS1039108_Hgranulocyte percentage of myeloid white cells QTL GWAS1039108 (human)2e-77granulocyte percentage of myeloid white cells168591121785911218Human
406964605GWAS613581_Hchronic lymphocytic leukemia QTL GWAS613581 (human)1e-09chronic lymphocytic leukemia168592206585922066Human
406971646GWAS620622_Hneutrophil count QTL GWAS620622 (human)1e-15basophil quantity (VT:0002607)blood basophil count (CMO:0000034)168590514985905150Human

Markers in Region
RH103354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371685,955,894 - 85,956,021UniSTSGRCh37
Build 361684,513,395 - 84,513,522RGDNCBI36
Celera1670,258,889 - 70,259,016RGD
Cytogenetic Map16q24.1UniSTS
HuRef1671,696,842 - 71,696,969UniSTS
GeneMap99-GB4 RH Map16478.05UniSTS
G59469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371685,935,375 - 85,935,581UniSTSGRCh37
Build 361684,492,876 - 84,493,082RGDNCBI36
Celera1670,238,360 - 70,238,566RGD
Cytogenetic Map16q24.1UniSTS
HuRef1671,676,282 - 71,676,488UniSTS
TNG Radiation Hybrid Map1638965.0UniSTS
RH69196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371685,954,876 - 85,955,041UniSTSGRCh37
Build 361684,512,377 - 84,512,542RGDNCBI36
Celera1670,257,872 - 70,258,037RGD
Cytogenetic Map16q24.1UniSTS
HuRef1671,695,825 - 71,695,990UniSTS
GeneMap99-GB4 RH Map16475.04UniSTS
NCBI RH Map16666.5UniSTS
D16S3205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371685,954,928 - 85,955,092UniSTSGRCh37
Build 361684,512,429 - 84,512,593RGDNCBI36
Celera1670,257,924 - 70,258,088RGD
Cytogenetic Map16q24.1UniSTS
HuRef1671,695,877 - 71,696,041UniSTS
Stanford-G3 RH Map163288.0UniSTS
NCBI RH Map16670.8UniSTS
GeneMap99-G3 RH Map163732.0UniSTS
ICSBP1_3162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371685,954,828 - 85,955,282UniSTSGRCh37
Build 361684,512,329 - 84,512,783RGDNCBI36
Celera1670,257,824 - 70,258,278RGD
HuRef1671,695,777 - 71,696,231UniSTS
G54712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371685,935,374 - 85,935,598UniSTSGRCh37
Celera1670,238,359 - 70,238,583UniSTS
Cytogenetic Map16q24.1UniSTS
HuRef1671,676,281 - 71,676,505UniSTS


Expression

RNA-SEQ Expression

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
renal system
reproductive system
respiratory system
sensory system
1204 2407 2788 2243 4816 1706 2207 4 614 1911 454 2197 7182 6399 22 3640 816 1675 1485 166

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA232881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI307662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF110315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG107396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI835080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA443741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB214983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M91196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000268638   ⟹   ENSP00000268638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,899,162 - 85,922,606 (+)Ensembl
Ensembl Acc Id: ENST00000562492   ⟹   ENSP00000455452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,914,043 - 85,921,371 (+)Ensembl
Ensembl Acc Id: ENST00000563180   ⟹   ENSP00000458047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,902,689 - 85,909,882 (+)Ensembl
Ensembl Acc Id: ENST00000564056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,903,131 - 85,913,312 (+)Ensembl
Ensembl Acc Id: ENST00000564617   ⟹   ENSP00000455784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,902,815 - 85,913,160 (+)Ensembl
Ensembl Acc Id: ENST00000564803   ⟹   ENSP00000456992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,902,826 - 85,922,606 (+)Ensembl
Ensembl Acc Id: ENST00000565552   ⟹   ENSP00000455816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,899,163 - 85,903,156 (+)Ensembl
Ensembl Acc Id: ENST00000566369   ⟹   ENSP00000455048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,899,173 - 85,922,558 (+)Ensembl
Ensembl Acc Id: ENST00000569145   ⟹   ENSP00000455760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,913,974 - 85,918,489 (+)Ensembl
Ensembl Acc Id: ENST00000569607   ⟹   ENSP00000456395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,913,826 - 85,922,600 (+)Ensembl
Ensembl Acc Id: ENST00000570088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,899,188 - 85,903,531 (+)Ensembl
Ensembl Acc Id: ENST00000696884   ⟹   ENSP00000512951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,899,116 - 85,922,606 (+)Ensembl
Ensembl Acc Id: ENST00000696885   ⟹   ENSP00000512952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,899,175 - 85,922,606 (+)Ensembl
Ensembl Acc Id: ENST00000696886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,899,175 - 85,922,606 (+)Ensembl
Ensembl Acc Id: ENST00000696887   ⟹   ENSP00000512953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,902,052 - 85,922,606 (+)Ensembl
Ensembl Acc Id: ENST00000696888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,902,967 - 85,913,042 (+)Ensembl
Ensembl Acc Id: ENST00000696889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,903,023 - 85,912,235 (+)Ensembl
Ensembl Acc Id: ENST00000696890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1685,908,636 - 85,922,606 (+)Ensembl
RefSeq Acc Id: NM_001363907   ⟹   NP_001350836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,902,830 - 85,922,609 (+)NCBI
T2T-CHM13v2.01691,969,329 - 91,989,108 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363908   ⟹   NP_001350837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,903,015 - 85,922,609 (+)NCBI
T2T-CHM13v2.01691,969,514 - 91,989,108 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002163   ⟹   NP_002154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,899,162 - 85,922,606 (+)NCBI
GRCh371685,932,774 - 85,956,212 (+)ENTREZGENE
Build 361684,490,275 - 84,513,713 (+)NCBI Archive
HuRef1671,673,680 - 71,697,160 (+)ENTREZGENE
CHM1_11687,344,316 - 87,367,790 (+)NCBI
T2T-CHM13v2.01691,965,661 - 91,989,105 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434052   ⟹   XP_047290008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,899,162 - 85,922,609 (+)NCBI
RefSeq Acc Id: NP_002154   ⟸   NM_002163
- Peptide Label: isoform 2
- UniProtKB: A0AV82 (UniProtKB/Swiss-Prot),   Q02556 (UniProtKB/Swiss-Prot),   B2R8V7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350836   ⟸   NM_001363907
- Peptide Label: isoform 1
- UniProtKB: B2R8V7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350837   ⟸   NM_001363908
- Peptide Label: isoform 3
- UniProtKB: H3BPS5 (UniProtKB/TrEMBL),   H3BRT4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000456395   ⟸   ENST00000569607
Ensembl Acc Id: ENSP00000268638   ⟸   ENST00000268638
Ensembl Acc Id: ENSP00000455452   ⟸   ENST00000562492
Ensembl Acc Id: ENSP00000458047   ⟸   ENST00000563180
Ensembl Acc Id: ENSP00000456992   ⟸   ENST00000564803
Ensembl Acc Id: ENSP00000455784   ⟸   ENST00000564617
Ensembl Acc Id: ENSP00000455816   ⟸   ENST00000565552
Ensembl Acc Id: ENSP00000455048   ⟸   ENST00000566369
Ensembl Acc Id: ENSP00000455760   ⟸   ENST00000569145
Ensembl Acc Id: ENSP00000512951   ⟸   ENST00000696884
Ensembl Acc Id: ENSP00000512953   ⟸   ENST00000696887
Ensembl Acc Id: ENSP00000512952   ⟸   ENST00000696885
RefSeq Acc Id: XP_047290008   ⟸   XM_047434052
- Peptide Label: isoform X1
Protein Domains
Interferon regulatory factor-3   IRF tryptophan pentad repeat

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02556-F1-model_v2 AlphaFold Q02556 1-426 view protein structure

Promoters
RGD ID:6793195
Promoter ID:HG_KWN:24409
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000269100
Position:
Human AssemblyChrPosition (strand)Source
Build 361684,490,011 - 84,490,511 (+)MPROMDB
RGD ID:6793196
Promoter ID:HG_KWN:24411
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC010CHP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361684,499,116 - 84,500,587 (+)MPROMDB
RGD ID:6810950
Promoter ID:HG_ACW:32073
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:IRF8.DAPR07,   IRF8.EAPR07,   IRF8.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361684,505,076 - 84,505,576 (+)MPROMDB
RGD ID:7233059
Promoter ID:EPDNEW_H22275
Type:initiation region
Name:IRF8_2
Description:interferon regulatory factor 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22276  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,898,816 - 85,898,876EPDNEW
RGD ID:7233061
Promoter ID:EPDNEW_H22276
Type:initiation region
Name:IRF8_1
Description:interferon regulatory factor 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22275  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381685,899,162 - 85,899,222EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5358 AgrOrtholog
COSMIC IRF8 COSMIC
Ensembl Genes ENSG00000140968 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268638 ENTREZGENE
  ENST00000268638.10 UniProtKB/Swiss-Prot
  ENST00000562492.5 UniProtKB/TrEMBL
  ENST00000563180.1 UniProtKB/TrEMBL
  ENST00000564617.5 UniProtKB/TrEMBL
  ENST00000564803.5 UniProtKB/TrEMBL
  ENST00000564803.6 UniProtKB/Swiss-Prot
  ENST00000565552.1 UniProtKB/TrEMBL
  ENST00000566369.2 UniProtKB/TrEMBL
  ENST00000569145.5 UniProtKB/TrEMBL
  ENST00000569607 ENTREZGENE
  ENST00000569607.2 UniProtKB/TrEMBL
  ENST00000696884.1 UniProtKB/TrEMBL
  ENST00000696885.1 UniProtKB/TrEMBL
  ENST00000696887.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140968 GTEx
HGNC ID HGNC:5358 ENTREZGENE
Human Proteome Map IRF8 Human Proteome Map
InterPro Interferon_reg_fac_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Interferon_reg_fact_DNA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Interferon_reg_factor-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3394 UniProtKB/Swiss-Prot
NCBI Gene 3394 ENTREZGENE
OMIM 601565 OMIM
PANTHER INTERFERON REGULATORY FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11949:SF7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRF-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29606 PharmGKB
PRINTS INTFRNREGFCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IRF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IRF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRF-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SJ00_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJ42_HUMAN UniProtKB/TrEMBL
  A0AV82 ENTREZGENE
  B2R8V7 ENTREZGENE, UniProtKB/TrEMBL
  H3BNX4_HUMAN UniProtKB/TrEMBL
  H3BPS5 ENTREZGENE
  H3BQF9_HUMAN UniProtKB/TrEMBL
  H3BQH6_HUMAN UniProtKB/TrEMBL
  H3BQK3_HUMAN UniProtKB/TrEMBL
  H3BRT4 ENTREZGENE, UniProtKB/TrEMBL
  H3BT31_HUMAN UniProtKB/TrEMBL
  H3BVC2_HUMAN UniProtKB/TrEMBL
  IRF8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0AV82 UniProtKB/Swiss-Prot
  H3BPS5 UniProtKB/TrEMBL