IL10RA (interleukin 10 receptor subunit alpha) - Rat Genome Database

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Gene: IL10RA (interleukin 10 receptor subunit alpha) Homo sapiens
Analyze
Symbol: IL10RA
Name: interleukin 10 receptor subunit alpha
RGD ID: 731000
HGNC Page HGNC:5964
Description: Enables interleukin-10 receptor activity. Involved in several processes, including interleukin-10-mediated signaling pathway; intestinal epithelial structure maintenance; and ubiquitin-dependent endocytosis. Located in cytosol and plasma membrane. Is active in apical plasma membrane. Implicated in inflammatory bowel disease 28.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD210; CD210a; CDW210A; HIL-10R; IL-10 receptor subunit alpha; IL-10R subunit 1; IL-10R subunit alpha; IL-10R1; IL-10RA; IL10R; interleukin 10 receptor, alpha; interleukin-10 receptor alpha chain; interleukin-10 receptor subunit 1; interleukin-10 receptor subunit alpha
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
GRCh3811117,986,394 - 118,003,037 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,986,370 - 118,003,037 (+)EnsemblGRCh38hg38GRCh38
GRCh3711117,857,109 - 117,873,752 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,362,319 - 117,377,404 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,362,318 - 117,377,404NCBI
Celera11115,014,946 - 115,030,037 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,790,784 - 113,805,875 (+)NCBIHuRef
CHM1_111117,742,666 - 117,757,757 (+)NCBICHM1_1
T2T-CHM13v2.011118,002,773 - 118,019,416 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
15-acetyldeoxynivalenol  (EXP)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
asperentin  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
benzoates  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
Brevianamide A  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clopidogrel  (ISO)
copper(II) sulfate  (EXP)
dexamethasone  (ISO)
dimethylarsinic acid  (ISO)
diquat  (ISO)
diuron  (EXP)
ethyl methanesulfonate  (EXP)
ferric oxide  (ISO)
fluvastatin  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
glycidol  (ISO)
hydroxychloroquine  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lidocaine  (ISO)
linuron  (ISO)
lipopolysaccharide  (EXP,ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
microcystin-LR  (ISO)
mycophenolic acid  (ISO)
mycotoxin  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
nickel atom  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
raloxifene  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium stibogluconate  (ISO)
sulfasalazine  (EXP)
teriflunomide  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (ISO)
vincristine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IDA)
cytoplasm  (IEA)
cytosol  (IDA)
membrane  (IEA)
plasma membrane  (IBA,IC,IDA,IEA,TAS)

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Regional and temporal expression patterns of interleukin-10, interleukin-10 receptor and adhesion molecules in the rat spinal cord during chronic relapsing EAE. Ledeboer A, etal., J Neuroimmunol. 2003 Mar;136(1-2):94-103.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. Interleukin (IL)-10 inhibits RANTES-, tumour necrosis factor (TNF)- and nerve growth factor (NGF)-induced mast cell migratory response but is not a mast cell chemoattractant. Pietrzak A, etal., Immunol Lett. 2009 Mar 24;123(1):46-51. Epub 2009 Feb 14.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Biology of interleukin-10. Sabat R, etal., Cytokine Growth Factor Rev. 2010 Oct;21(5):331-44. doi: 10.1016/j.cytogfr.2010.09.002. Epub 2010 Nov 5.
10. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:7540068   PMID:7544437   PMID:7759550   PMID:7814035   PMID:8120391   PMID:8248239   PMID:8407942   PMID:8662928   PMID:8897595   PMID:9312047   PMID:10231374   PMID:10433356  
PMID:10563471   PMID:11254683   PMID:11485736   PMID:11490020   PMID:11591769   PMID:11717514   PMID:12023331   PMID:12093920   PMID:12133952   PMID:12374810   PMID:12477932   PMID:12496489  
PMID:12513909   PMID:12591723   PMID:12673894   PMID:12759436   PMID:15063762   PMID:15340161   PMID:15489334   PMID:15729365   PMID:15837194   PMID:16491350   PMID:16961803   PMID:16971956  
PMID:16982608   PMID:17066477   PMID:17115186   PMID:17152005   PMID:17331973   PMID:17703412   PMID:17845543   PMID:17961716   PMID:17988330   PMID:18308712   PMID:18344594   PMID:18365030  
PMID:18395809   PMID:18633131   PMID:18674658   PMID:18676680   PMID:18800073   PMID:18818748   PMID:19012493   PMID:19016528   PMID:19019335   PMID:19170196   PMID:19258923   PMID:19336370  
PMID:19409109   PMID:19527514   PMID:19573080   PMID:19625176   PMID:19692168   PMID:19738620   PMID:19772791   PMID:19773279   PMID:19773451   PMID:19798061   PMID:19890111   PMID:19913121  
PMID:20186944   PMID:20232770   PMID:20237496   PMID:20299965   PMID:20331378   PMID:20424473   PMID:20452482   PMID:20453000   PMID:20462497   PMID:20463618   PMID:20478055   PMID:20503287  
PMID:20531015   PMID:20568250   PMID:20588308   PMID:20617924   PMID:20628086   PMID:20673868   PMID:20811626   PMID:20976276   PMID:21396623   PMID:21532858   PMID:21553229   PMID:21635228  
PMID:21654841   PMID:21814839   PMID:21873635   PMID:22087322   PMID:22155628   PMID:22549091   PMID:22550014   PMID:22649007   PMID:22652629   PMID:23096091   PMID:23166328   PMID:23251661  
PMID:23455702   PMID:23839161   PMID:24008843   PMID:24089328   PMID:24216686   PMID:24367025   PMID:24379584   PMID:24519095   PMID:24566517   PMID:24581234   PMID:24689510   PMID:24785691  
PMID:25326368   PMID:25373860   PMID:25472783   PMID:25733167   PMID:26631117   PMID:26962683   PMID:27056979   PMID:27133025   PMID:27268052   PMID:27397081   PMID:27796662   PMID:28225209  
PMID:28267044   PMID:28488547   PMID:28644354   PMID:28893958   PMID:28982901   PMID:29023267   PMID:29045353   PMID:29454749   PMID:30199474   PMID:30293279   PMID:30498038   PMID:30762338  
PMID:32034084   PMID:32296183   PMID:32306136   PMID:32380517   PMID:32587451   PMID:32605339   PMID:32838946   PMID:33595140   PMID:33849446   PMID:34879221   PMID:37511050  


Genomics

Comparative Map Data
IL10RA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811117,986,394 - 118,003,037 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,986,370 - 118,003,037 (+)EnsemblGRCh38hg38GRCh38
GRCh3711117,857,109 - 117,873,752 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,362,319 - 117,377,404 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,362,318 - 117,377,404NCBI
Celera11115,014,946 - 115,030,037 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,790,784 - 113,805,875 (+)NCBIHuRef
CHM1_111117,742,666 - 117,757,757 (+)NCBICHM1_1
T2T-CHM13v2.011118,002,773 - 118,019,416 (+)NCBIT2T-CHM13v2.0
Il10ra
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39945,165,135 - 45,180,447 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl945,165,135 - 45,180,447 (-)EnsemblGRCm39 Ensembl
GRCm38945,253,837 - 45,269,149 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl945,253,837 - 45,269,149 (-)EnsemblGRCm38mm10GRCm38
MGSCv37945,061,922 - 45,077,229 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36945,004,833 - 45,020,128 (-)NCBIMGSCv36mm8
Celera942,530,039 - 42,545,574 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Il10ra
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8854,459,754 - 54,474,786 (-)NCBIGRCr8
mRatBN7.2845,563,009 - 45,578,041 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl845,563,137 - 45,578,061 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx851,059,536 - 51,072,968 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0849,338,295 - 49,351,727 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0847,208,844 - 47,222,279 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0849,558,062 - 49,573,891 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,560,035 - 49,573,742 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0848,184,634 - 48,200,343 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4848,211,040 - 48,224,439 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1848,219,805 - 48,233,205 (-)NCBI
Celera845,147,695 - 45,161,094 (-)NCBICelera
Cytogenetic Map8q22NCBI
Il10ra
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541219,182,029 - 19,193,971 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541219,182,536 - 19,197,083 (+)NCBIChiLan1.0ChiLan1.0
IL10RA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29118,686,901 - 118,702,056 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111119,791,876 - 119,807,051 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011112,820,445 - 112,835,603 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111116,752,619 - 116,767,771 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11116,752,619 - 116,767,771 (+)Ensemblpanpan1.1panPan2
IL10RA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,675,775 - 15,688,935 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,677,547 - 15,682,163 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,725,841 - 15,738,336 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,617,611 - 15,630,201 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl515,617,622 - 15,630,212 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1515,755,417 - 15,767,913 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,658,874 - 15,671,434 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,700,417 - 15,712,914 (-)NCBIUU_Cfam_GSD_1.0
Il10ra
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947100,178,025 - 100,191,000 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365423,099,430 - 3,113,210 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365423,099,484 - 3,113,159 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL10RA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,310,534 - 45,325,168 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,310,527 - 45,324,557 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,364,900 - 50,378,929 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IL10RA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11109,357,081 - 109,372,557 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1109,357,133 - 109,372,697 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604316,683,781 - 16,699,148 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Il10ra
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478413,386,965 - 13,403,014 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478413,386,793 - 13,399,871 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IL10RA
397 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001558.4(IL10RA):c.136A>G (p.Thr46Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV000524699]|not provided [RCV001701041] Chr11:117988450 [GRCh38]
Chr11:117859165 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.811-9C>T single nucleotide variant Inflammatory bowel disease 28 [RCV000552643] Chr11:117998706 [GRCh38]
Chr11:117869421 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.784C>T (p.Arg262Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV000032625] Chr11:117995684 [GRCh38]
Chr11:117866399 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp) single nucleotide variant IL10RA-related disorder [RCV003398584]|Inflammatory bowel disease 28 [RCV000032627] Chr11:117989554 [GRCh38]
Chr11:117860269 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001558.4(IL10RA):c.421G>A (p.Gly141Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV000015937] Chr11:117993294 [GRCh38]
Chr11:117864009 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.251C>T (p.Thr84Ile) single nucleotide variant Inflammatory bowel disease 28 [RCV000015938] Chr11:117989504 [GRCh38]
Chr11:117860219 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.1260G>A (p.Ser420=) single nucleotide variant IL10RA-related disorder [RCV003965504]|Inflammatory bowel disease 28 [RCV001079569]|not provided [RCV000728028] Chr11:117999164 [GRCh38]
Chr11:117869879 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.1640C>T (p.Pro547Leu) single nucleotide variant not provided [RCV000728254] Chr11:117999544 [GRCh38]
Chr11:117870259 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1360G>A (p.Glu454Lys) single nucleotide variant Inflammatory bowel disease 28 [RCV000548542] Chr11:117999264 [GRCh38]
Chr11:117869979 [GRCh37]
Chr11:11q23.3		 benign|likely benign
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 copy number gain See cases [RCV000053640] Chr11:116436425..118046231 [GRCh38]
Chr11:116307142..117916946 [GRCh37]
Chr11:115812352..117422156 [NCBI36]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.750C>T (p.Leu250=) single nucleotide variant Inflammatory bowel disease 28 [RCV002653195] Chr11:117995650 [GRCh38]
Chr11:117866365 [GRCh37]
Chr11:117371575 [NCBI36]
Chr11:11q23.3		 likely benign|not provided
NM_001558.4(IL10RA):c.1019C>T (p.Pro340Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV001312446] Chr11:117998923 [GRCh38]
Chr11:117869638 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV000605669]|not provided [RCV004706616]|not specified [RCV000178165] Chr11:117993348 [GRCh38]
Chr11:117864063 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV000804486]|not provided [RCV000282398] Chr11:117988484 [GRCh38]
Chr11:117859199 [GRCh37]
Chr11:11q23.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp) single nucleotide variant Inflammatory bowel disease 28 [RCV001087846]|not provided [RCV000767103]|not specified [RCV000238699] Chr11:117995681 [GRCh38]
Chr11:117866396 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.931T>C (p.Leu311=) single nucleotide variant Inflammatory bowel disease 28 [RCV001079433]|not provided [RCV000281135] Chr11:117998835 [GRCh38]
Chr11:117869550 [GRCh37]
Chr11:11q23.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.1051A>G (p.Arg351Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV000283667]|not provided [RCV001723887]|not specified [RCV000455516] Chr11:117998955 [GRCh38]
Chr11:117869670 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.-70C>T single nucleotide variant Inflammatory bowel disease 28 [RCV000265133]|not provided [RCV004705205] Chr11:117986398 [GRCh38]
Chr11:117857113 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.*866C>A single nucleotide variant Inflammatory bowel disease 28 [RCV000322410] Chr11:118000507 [GRCh38]
Chr11:117871222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*1348G>C single nucleotide variant Inflammatory bowel disease 28 [RCV000322630]|not provided [RCV004706797] Chr11:118000989 [GRCh38]
Chr11:117871704 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.*639C>T single nucleotide variant Inflammatory bowel disease 28 [RCV000370150] Chr11:118000280 [GRCh38]
Chr11:117870995 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*354T>C single nucleotide variant Inflammatory bowel disease 28 [RCV000396898]|not provided [RCV004706796] Chr11:117999995 [GRCh38]
Chr11:117870710 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.810+10G>A single nucleotide variant Inflammatory bowel disease 28 [RCV000967931] Chr11:117995720 [GRCh38]
Chr11:117866435 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_001558.4(IL10RA):c.*1352G>A single nucleotide variant Inflammatory bowel disease 28 [RCV000372581] Chr11:118000993 [GRCh38]
Chr11:117871708 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.336C>T (p.Thr112=) single nucleotide variant Inflammatory bowel disease 28 [RCV000305533] Chr11:117989589 [GRCh38]
Chr11:117860304 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.*863C>T single nucleotide variant Inflammatory bowel disease 28 [RCV000271970] Chr11:118000504 [GRCh38]
Chr11:117871219 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.144C>T (p.Ile48=) single nucleotide variant Inflammatory bowel disease 28 [RCV000647209] Chr11:117988458 [GRCh38]
Chr11:117859173 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_001558.4(IL10RA):c.1259C>T (p.Ser420Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV000535910]|not provided [RCV002225580] Chr11:117999163 [GRCh38]
Chr11:117869878 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.188+3G>A single nucleotide variant Inflammatory bowel disease 28 [RCV000290374] Chr11:117988505 [GRCh38]
Chr11:117859220 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.181C>G (p.Leu61Val) single nucleotide variant Inflammatory bowel disease 28 [RCV000541829]|not provided [RCV004703590] Chr11:117988495 [GRCh38]
Chr11:117859210 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.670A>G (p.Ile224Val) single nucleotide variant Inflammatory bowel disease 28 [RCV000312221]|not provided [RCV001597052] Chr11:117994131 [GRCh38]
Chr11:117864846 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=) single nucleotide variant IL10RA-related disorder [RCV003950015]|Inflammatory bowel disease 28 [RCV000406462]|not provided [RCV001311792] Chr11:117999356 [GRCh38]
Chr11:117870071 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.*1375C>A single nucleotide variant Inflammatory bowel disease 28 [RCV000278255] Chr11:118001016 [GRCh38]
Chr11:117871731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*1730G>A single nucleotide variant Inflammatory bowel disease 28 [RCV000294858]|not provided [RCV004706798] Chr11:118001371 [GRCh38]
Chr11:117872086 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.1323G>A (p.Val441=) single nucleotide variant Inflammatory bowel disease 28 [RCV000335288] Chr11:117999227 [GRCh38]
Chr11:117869942 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.96G>A (p.Val32=) single nucleotide variant Inflammatory bowel disease 28 [RCV001088383]|not provided [RCV000593830] Chr11:117988410 [GRCh38]
Chr11:117859125 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.67+11G>A single nucleotide variant Inflammatory bowel disease 28 [RCV000259364] Chr11:117986545 [GRCh38]
Chr11:117857260 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.706G>A (p.Val236Ile) single nucleotide variant Inflammatory bowel disease 28 [RCV000685802]|not provided [RCV004692983] Chr11:117995606 [GRCh38]
Chr11:117866321 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.72A>C (p.Thr24=) single nucleotide variant Inflammatory bowel disease 28 [RCV000277188]|not provided [RCV000596626] Chr11:117988386 [GRCh38]
Chr11:117859101 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.1281C>T (p.Pro427=) single nucleotide variant Inflammatory bowel disease 28 [RCV000280203] Chr11:117999185 [GRCh38]
Chr11:117869900 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.459A>G (p.Ala153=) single nucleotide variant Inflammatory bowel disease 28 [RCV000297163]|not provided [RCV001824728]|not specified [RCV000454846] Chr11:117993332 [GRCh38]
Chr11:117864047 [GRCh37]
Chr11:11q23.3		 benign|not provided
NM_001558.4(IL10RA):c.785G>A (p.Arg262His) single nucleotide variant Inflammatory bowel disease 28 [RCV000363512]|not provided [RCV001815308] Chr11:117995685 [GRCh38]
Chr11:117866400 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.525G>A (p.Pro175=) single nucleotide variant Inflammatory bowel disease 28 [RCV000261984]|not provided [RCV004706794] Chr11:117993398 [GRCh38]
Chr11:117864113 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile) single nucleotide variant IL10RA-related disorder [RCV003983003]|Inflammatory bowel disease 28 [RCV000539178]|not provided [RCV003409467] Chr11:117989590 [GRCh38]
Chr11:117860305 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.67+10C>T single nucleotide variant Inflammatory bowel disease 28 [RCV001470596]|not provided [RCV000268478] Chr11:117986544 [GRCh38]
Chr11:117857259 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.*104C>G single nucleotide variant Inflammatory bowel disease 28 [RCV000281038] Chr11:117999745 [GRCh38]
Chr11:117870460 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*854C>G single nucleotide variant Inflammatory bowel disease 28 [RCV000366437] Chr11:118000495 [GRCh38]
Chr11:117871210 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.696C>T (p.Thr232=) single nucleotide variant Inflammatory bowel disease 28 [RCV000625086]|not provided [RCV001091035]|not specified [RCV000734742] Chr11:117995596 [GRCh38]
Chr11:117866311 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_001558.4(IL10RA):c.1188G>A (p.Arg396=) single nucleotide variant IL10RA-related disorder [RCV003920241]|Inflammatory bowel disease 28 [RCV000971021] Chr11:117999092 [GRCh38]
Chr11:117869807 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_001558.4(IL10RA):c.180G>A (p.Ala60=) single nucleotide variant Inflammatory bowel disease 28 [RCV000347549]|not provided [RCV004706793]|not specified [RCV003401292] Chr11:117988494 [GRCh38]
Chr11:117859209 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.721G>C (p.Ala241Pro) single nucleotide variant not provided [RCV000345305] Chr11:117995621 [GRCh38]
Chr11:117866336 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*1684G>A single nucleotide variant Inflammatory bowel disease 28 [RCV000348592] Chr11:118001325 [GRCh38]
Chr11:117872040 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.447G>A (p.Lys149=) single nucleotide variant Inflammatory bowel disease 28 [RCV000397670] Chr11:117993320 [GRCh38]
Chr11:117864035 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV000689947]|not provided [RCV001701942] Chr11:117989573 [GRCh38]
Chr11:117860288 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.*133C>T single nucleotide variant Inflammatory bowel disease 28 [RCV000350011] Chr11:117999774 [GRCh38]
Chr11:117870489 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.*1555C>T single nucleotide variant Inflammatory bowel disease 28 [RCV000373883] Chr11:118001196 [GRCh38]
Chr11:117871911 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*676C>T single nucleotide variant Inflammatory bowel disease 28 [RCV000398873] Chr11:118000317 [GRCh38]
Chr11:117871032 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*756T>C single nucleotide variant Inflammatory bowel disease 28 [RCV000307178] Chr11:118000397 [GRCh38]
Chr11:117871112 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.80C>T (p.Pro27Leu) single nucleotide variant Inborn genetic diseases [RCV004021497]|Inflammatory bowel disease 28 [RCV000330022] Chr11:117988394 [GRCh38]
Chr11:117859109 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*968G>A single nucleotide variant Inflammatory bowel disease 28 [RCV000357651] Chr11:118000609 [GRCh38]
Chr11:117871324 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_001558.4(IL10RA):c.972C>T (p.Thr324=) single nucleotide variant Inflammatory bowel disease 28 [RCV000544267]|not provided [RCV004706795] Chr11:117998876 [GRCh38]
Chr11:117869591 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.21G>C (p.Val7=) single nucleotide variant Inflammatory bowel disease 28 [RCV000550448]|not provided [RCV002274969]|not specified [RCV000361895] Chr11:117986488 [GRCh38]
Chr11:117857203 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.*1058A>G single nucleotide variant Inflammatory bowel disease 28 [RCV000267574] Chr11:118000699 [GRCh38]
Chr11:117871414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*1412T>C single nucleotide variant Inflammatory bowel disease 28 [RCV000319341] Chr11:118001053 [GRCh38]
Chr11:117871768 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.312C>T (p.Asp104=) single nucleotide variant IL10RA-related disorder [RCV003979999]|Inflammatory bowel disease 28 [RCV000526589]|not provided [RCV004707331] Chr11:117989565 [GRCh38]
Chr11:117860280 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.*356dup duplication Inflammatory bowel disease [RCV000315577] Chr11:117999995..117999996 [GRCh38]
Chr11:117870710..117870711 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.67+13G>A single nucleotide variant Inflammatory bowel disease 28 [RCV000316968] Chr11:117986547 [GRCh38]
Chr11:117857262 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.*1664A>G single nucleotide variant Inflammatory bowel disease 28 [RCV000293550] Chr11:118001305 [GRCh38]
Chr11:117872020 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*1722T>C single nucleotide variant Inflammatory bowel disease 28 [RCV000405254] Chr11:118001363 [GRCh38]
Chr11:117872078 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.67+15C>T single nucleotide variant Inflammatory bowel disease 28 [RCV000387985] Chr11:117986549 [GRCh38]
Chr11:117857264 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.295A>T (p.Arg99Ter) single nucleotide variant Inflammatory bowel disease 28 [RCV000340619] Chr11:117989548 [GRCh38]
Chr11:117860263 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.-54T>C single nucleotide variant Inflammatory bowel disease 28 [RCV000299480] Chr11:117986414 [GRCh38]
Chr11:117857129 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.25C>T (p.Leu9=) single nucleotide variant Inflammatory bowel disease 28 [RCV000356585] Chr11:117986492 [GRCh38]
Chr11:117857207 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.751G>A (p.Ala251Thr) single nucleotide variant Inflammatory bowel disease 28 [RCV000540015] Chr11:117995651 [GRCh38]
Chr11:117866366 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV001084894]|not provided [RCV000598085] Chr11:117995598 [GRCh38]
Chr11:117866313 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001558.4(IL10RA):c.492C>G (p.Phe164Leu) single nucleotide variant Inborn genetic diseases [RCV003300347] Chr11:117993365 [GRCh38]
Chr11:117864080 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.302G>A (p.Arg101Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV000694673]|not provided [RCV000594822] Chr11:117989555 [GRCh38]
Chr11:117860270 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV000647202]|not provided [RCV001726288]|not specified [RCV000736104] Chr11:117998788 [GRCh38]
Chr11:117869503 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.1234C>T (p.Arg412Trp) single nucleotide variant Inflammatory bowel disease 28 [RCV000647203] Chr11:117999138 [GRCh38]
Chr11:117869853 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV000647205]|not provided [RCV001700437] Chr11:117999139 [GRCh38]
Chr11:117869854 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.420C>T (p.Leu140=) single nucleotide variant Inflammatory bowel disease 28 [RCV000647206] Chr11:117993293 [GRCh38]
Chr11:117864008 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=) single nucleotide variant Inflammatory bowel disease 28 [RCV000647208] Chr11:117999443 [GRCh38]
Chr11:117870158 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001558.4(IL10RA):c.90G>A (p.Pro30=) single nucleotide variant Inflammatory bowel disease 28 [RCV000533341]|not provided [RCV004704083] Chr11:117988404 [GRCh38]
Chr11:117859119 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.67+8T>C single nucleotide variant Inflammatory bowel disease 28 [RCV000556310]|not provided [RCV001091034] Chr11:117986542 [GRCh38]
Chr11:117857257 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV000647204]|not provided [RCV001702705] Chr11:117998976 [GRCh38]
Chr11:117869691 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.1518G>A (p.Leu506=) single nucleotide variant IL10RA-related disorder [RCV003965373]|Inflammatory bowel disease 28 [RCV001463531] Chr11:117999422 [GRCh38]
Chr11:117870137 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1041G>A (p.Thr347=) single nucleotide variant Inflammatory bowel disease 28 [RCV000647211]|not provided [RCV004707396] Chr11:117998945 [GRCh38]
Chr11:117869660 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.75G>T (p.Glu25Asp) single nucleotide variant Inflammatory bowel disease 28 [RCV000647212]|not provided [RCV001702540]|not specified [RCV001726289] Chr11:117988389 [GRCh38]
Chr11:117859104 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.1158C>G (p.Thr386=) single nucleotide variant Inflammatory bowel disease 28 [RCV000647213]|not provided [RCV002060758] Chr11:117999062 [GRCh38]
Chr11:117869777 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.252C>T (p.Thr84=) single nucleotide variant Inflammatory bowel disease 28 [RCV000647214] Chr11:117989505 [GRCh38]
Chr11:117860220 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.697G>A (p.Val233Met) single nucleotide variant Inflammatory bowel disease 28 [RCV000647215]|not provided [RCV003411527] Chr11:117995597 [GRCh38]
Chr11:117866312 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.536C>T (p.Thr179Met) single nucleotide variant Inflammatory bowel disease 28 [RCV001060072]|not provided [RCV000595547] Chr11:117993409 [GRCh38]
Chr11:117864124 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:117808622-117890295)x1 copy number loss not provided [RCV000683300] Chr11:117808622..117890295 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001558.4(IL10RA):c.1145G>C (p.Ser382Thr) single nucleotide variant Inborn genetic diseases [RCV004629308]|Inflammatory bowel disease 28 [RCV000701705] Chr11:117999049 [GRCh38]
Chr11:117869764 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1087_1095del (p.Gly363_Ser365del) deletion Inflammatory bowel disease 28 [RCV000693154] Chr11:117998991..117998999 [GRCh38]
Chr11:117869706..117869714 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1023C>A (p.His341Gln) single nucleotide variant IL10RA-related disorder [RCV003403599]|Inborn genetic diseases [RCV003243256]|Inflammatory bowel disease 28 [RCV000689776]|not provided [RCV004692105] Chr11:117998927 [GRCh38]
Chr11:117869642 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.574C>T (p.Leu192Phe) single nucleotide variant Inflammatory bowel disease 28 [RCV000691088] Chr11:117994035 [GRCh38]
Chr11:117864750 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV001106802] Chr11:117999187 [GRCh38]
Chr11:117869902 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.954C>T (p.Asp318=) single nucleotide variant Inflammatory bowel disease 28 [RCV000925034] Chr11:117998858 [GRCh38]
Chr11:117869573 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1638C>T (p.Ala546=) single nucleotide variant IL10RA-related disorder [RCV003955824]|Inflammatory bowel disease 28 [RCV000881025] Chr11:117999542 [GRCh38]
Chr11:117870257 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.712A>G (p.Ile238Val) single nucleotide variant Inflammatory bowel disease 28 [RCV001043892] Chr11:117995612 [GRCh38]
Chr11:117866327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1399T>C (p.Ser467Pro) single nucleotide variant Inflammatory bowel disease 28 [RCV001040895] Chr11:117999303 [GRCh38]
Chr11:117870018 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.46C>T (p.Arg16Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV001035429] Chr11:117986513 [GRCh38]
Chr11:117857228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.20T>A (p.Val7Glu) single nucleotide variant Inflammatory bowel disease 28 [RCV001049526] Chr11:117986487 [GRCh38]
Chr11:117857202 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001558.4(IL10RA):c.1538C>T (p.Thr513Met) single nucleotide variant Inflammatory bowel disease 28 [RCV000809545]|not provided [RCV003480852] Chr11:117999442 [GRCh38]
Chr11:117870157 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1401G>A (p.Ser467=) single nucleotide variant Inflammatory bowel disease 28 [RCV000968155] Chr11:117999305 [GRCh38]
Chr11:117870020 [GRCh37]
Chr11:11q23.3		 benign|conflicting interpretations of pathogenicity
NM_001558.4(IL10RA):c.937C>T (p.Leu313=) single nucleotide variant Inflammatory bowel disease 28 [RCV000886836] Chr11:117998841 [GRCh38]
Chr11:117869556 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.407A>G (p.Asn136Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV000796542] Chr11:117993280 [GRCh38]
Chr11:117863995 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.514C>T (p.Arg172Cys) single nucleotide variant Inborn genetic diseases [RCV002536957]|Inflammatory bowel disease 28 [RCV000793296] Chr11:117993387 [GRCh38]
Chr11:117864102 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.161G>C (p.Ser54Thr) single nucleotide variant Inflammatory bowel disease 28 [RCV000799697] Chr11:117988475 [GRCh38]
Chr11:117859190 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1432G>A (p.Gly478Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV000819447] Chr11:117999336 [GRCh38]
Chr11:117870051 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.628G>A (p.Ala210Thr) single nucleotide variant Inflammatory bowel disease 28 [RCV000803176] Chr11:117994089 [GRCh38]
Chr11:117864804 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1169A>T (p.Gln390Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV000800437] Chr11:117999073 [GRCh38]
Chr11:117869788 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001558.4(IL10RA):c.883C>T (p.Pro295Ser) single nucleotide variant Inborn genetic diseases [RCV002538176]|Inflammatory bowel disease 28 [RCV000813776]|not provided [RCV001702838] Chr11:117998787 [GRCh38]
Chr11:117869502 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.473A>G (p.Glu158Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV000824319] Chr11:117993346 [GRCh38]
Chr11:117864061 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1250A>G (p.Gln417Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV001059854] Chr11:117999154 [GRCh38]
Chr11:117869869 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.559_579dup (p.His187_Leu193dup) duplication Inflammatory bowel disease 28 [RCV000815505] Chr11:117994018..117994019 [GRCh38]
Chr11:117864733..117864734 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.16G>C (p.Val6Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV000815632] Chr11:117986483 [GRCh38]
Chr11:117857198 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.762G>A (p.Leu254=) single nucleotide variant Inflammatory bowel disease 28 [RCV000791494] Chr11:117995662 [GRCh38]
Chr11:117866377 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.1631A>T (p.Asp544Val) single nucleotide variant Inflammatory bowel disease 28 [RCV000791695] Chr11:117999535 [GRCh38]
Chr11:117870250 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1693C>A (p.Leu565Met) single nucleotide variant Inflammatory bowel disease 28 [RCV000792750] Chr11:117999597 [GRCh38]
Chr11:117870312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.723C>T (p.Ala241=) single nucleotide variant Inflammatory bowel disease 28 [RCV000940898] Chr11:117995623 [GRCh38]
Chr11:117866338 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1165C>A (p.Gln389Lys) single nucleotide variant Inflammatory bowel disease 28 [RCV001052475] Chr11:117999069 [GRCh38]
Chr11:117869784 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.824C>T (p.Pro275Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV001056334] Chr11:117998728 [GRCh38]
Chr11:117869443 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.580A>T (p.Thr194Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV001210458] Chr11:117994041 [GRCh38]
Chr11:117864756 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.319C>T (p.Arg107Trp) single nucleotide variant Inflammatory bowel disease 28 [RCV001240320] Chr11:117989572 [GRCh38]
Chr11:117860287 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1103C>T (p.Thr368Ile) single nucleotide variant Inflammatory bowel disease 28 [RCV001246242] Chr11:117999007 [GRCh38]
Chr11:117869722 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.477C>T (p.Ser159=) single nucleotide variant Inflammatory bowel disease 28 [RCV001236087] Chr11:117993350 [GRCh38]
Chr11:117864065 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.787C>T (p.Arg263Ter) single nucleotide variant Inflammatory bowel disease 28 [RCV000988744] Chr11:117995687 [GRCh38]
Chr11:117866402 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001558.4(IL10RA):c.*405G>A single nucleotide variant Inflammatory bowel disease 28 [RCV001103817] Chr11:118000046 [GRCh38]
Chr11:117870761 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*872G>A single nucleotide variant Inflammatory bowel disease 28 [RCV001105767] Chr11:118000513 [GRCh38]
Chr11:117871228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.87T>C (p.Pro29=) single nucleotide variant Inflammatory bowel disease 28 [RCV003104434] Chr11:117988401 [GRCh38]
Chr11:117859116 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.172G>A (p.Glu58Lys) single nucleotide variant Inflammatory bowel disease 28 [RCV000908434]|not provided [RCV004704305] Chr11:117988486 [GRCh38]
Chr11:117859201 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.789A>G (p.Arg263=) single nucleotide variant Inflammatory bowel disease 28 [RCV001447102] Chr11:117995689 [GRCh38]
Chr11:117866404 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.633C>T (p.Ser211=) single nucleotide variant Inflammatory bowel disease 28 [RCV000909650] Chr11:117994094 [GRCh38]
Chr11:117864809 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.313G>A (p.Gly105Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV001106718] Chr11:117989566 [GRCh38]
Chr11:117860281 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.47G>C (p.Arg16Pro) single nucleotide variant Inborn genetic diseases [RCV004031735]|Inflammatory bowel disease 28 [RCV001054870] Chr11:117986514 [GRCh38]
Chr11:117857229 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.67+11G>C single nucleotide variant Inflammatory bowel disease 28 [RCV001103630] Chr11:117986545 [GRCh38]
Chr11:117857260 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.788G>A (p.Arg263Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV001240623] Chr11:117995688 [GRCh38]
Chr11:117866403 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1040C>T (p.Thr347Met) single nucleotide variant Inflammatory bowel disease 28 [RCV001238142] Chr11:117998944 [GRCh38]
Chr11:117869659 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.8C>A (p.Pro3Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV000913660] Chr11:117986475 [GRCh38]
Chr11:117857190 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.716T>C (p.Phe239Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV000890908] Chr11:117995616 [GRCh38]
Chr11:117866331 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001558.4(IL10RA):c.*543G>A single nucleotide variant Inflammatory bowel disease 28 [RCV001103819] Chr11:118000184 [GRCh38]
Chr11:117870899 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*576G>C single nucleotide variant Inflammatory bowel disease 28 [RCV001103820] Chr11:118000217 [GRCh38]
Chr11:117870932 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.89C>T (p.Pro30Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV001105571]|not provided [RCV003326540] Chr11:117988403 [GRCh38]
Chr11:117859118 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001558.4(IL10RA):c.818A>G (p.Lys273Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV001054214] Chr11:117998722 [GRCh38]
Chr11:117869437 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1414G>A (p.Gly472Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV001106803] Chr11:117999318 [GRCh38]
Chr11:117870033 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*1147C>T single nucleotide variant Inflammatory bowel disease 28 [RCV001106881] Chr11:118000788 [GRCh38]
Chr11:117871503 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.-65C>T single nucleotide variant Inflammatory bowel disease 28 [RCV001108783] Chr11:117986403 [GRCh38]
Chr11:117857118 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.-29C>T single nucleotide variant Inflammatory bowel disease 28 [RCV001108784] Chr11:117986439 [GRCh38]
Chr11:117857154 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*328G>C single nucleotide variant Inflammatory bowel disease 28 [RCV001107443] Chr11:117999969 [GRCh38]
Chr11:117870684 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*9G>A single nucleotide variant IL10RA-related disorder [RCV003963049]|Inflammatory bowel disease 28 [RCV001107441] Chr11:117999650 [GRCh38]
Chr11:117870365 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.*203G>T single nucleotide variant Inflammatory bowel disease 28 [RCV001107442] Chr11:117999844 [GRCh38]
Chr11:117870559 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.802A>G (p.Ser268Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV001058249] Chr11:117995702 [GRCh38]
Chr11:117866417 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*846T>A single nucleotide variant Inflammatory bowel disease 28 [RCV001105766] Chr11:118000487 [GRCh38]
Chr11:117871202 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.8C>G (p.Pro3Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV001218593] Chr11:117986475 [GRCh38]
Chr11:117857190 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NM_001558.4(IL10RA):c.457G>A (p.Ala153Thr) single nucleotide variant Inborn genetic diseases [RCV004031616]|Inflammatory bowel disease 28 [RCV001051836] Chr11:117993330 [GRCh38]
Chr11:117864045 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.632C>T (p.Ser211Phe) single nucleotide variant Inflammatory bowel disease 28 [RCV001216508] Chr11:117994093 [GRCh38]
Chr11:117864808 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.506T>C (p.Ile169Thr) single nucleotide variant Inflammatory bowel disease 28 [RCV001214188] Chr11:117993379 [GRCh38]
Chr11:117864094 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_001558.4(IL10RA):c.114T>A (p.Phe38Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV001036342] Chr11:117988428 [GRCh38]
Chr11:117859143 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.289C>T (p.Arg97Trp) single nucleotide variant Inflammatory bowel disease 28 [RCV001045484] Chr11:117989542 [GRCh38]
Chr11:117860257 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.943G>A (p.Gly315Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV001229360] Chr11:117998847 [GRCh38]
Chr11:117869562 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*984C>A single nucleotide variant Inflammatory bowel disease 28 [RCV001105768] Chr11:118000625 [GRCh38]
Chr11:117871340 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.537G>A (p.Thr179=) single nucleotide variant Inflammatory bowel disease 28 [RCV001030031] Chr11:117993410 [GRCh38]
Chr11:117864125 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001558.4(IL10RA):c.634C>T (p.Arg212Ter) single nucleotide variant Inflammatory bowel disease 28 [RCV001030032] Chr11:117994095 [GRCh38]
Chr11:117864810 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.1057C>T (p.Pro353Ser) single nucleotide variant IL10RA-related disorder [RCV003413892]|Inflammatory bowel disease 28 [RCV001069197] Chr11:117998961 [GRCh38]
Chr11:117869676 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1707C>T (p.Pro569=) single nucleotide variant Inflammatory bowel disease 28 [RCV001107440] Chr11:117999611 [GRCh38]
Chr11:117870326 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.*421A>C single nucleotide variant Inflammatory bowel disease 28 [RCV001103818] Chr11:118000062 [GRCh38]
Chr11:117870777 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.700A>G (p.Thr234Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV001307166] Chr11:117995600 [GRCh38]
Chr11:117866315 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.670A>T (p.Ile224Phe) single nucleotide variant Inflammatory bowel disease 28 [RCV001299151] Chr11:117994131 [GRCh38]
Chr11:117864846 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1247C>T (p.Thr416Ile) single nucleotide variant Inflammatory bowel disease 28 [RCV001314329] Chr11:117999151 [GRCh38]
Chr11:117869866 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1718G>A (p.Ser573Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV001301988] Chr11:117999622 [GRCh38]
Chr11:117870337 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1699A>C (p.Thr567Pro) single nucleotide variant Inflammatory bowel disease 28 [RCV001342626] Chr11:117999603 [GRCh38]
Chr11:117870318 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1002G>C (p.Gln334His) single nucleotide variant Inflammatory bowel disease 28 [RCV001351518] Chr11:117998906 [GRCh38]
Chr11:117869621 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1537A>G (p.Thr513Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV001351883] Chr11:117999441 [GRCh38]
Chr11:117870156 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.253G>A (p.Ala85Thr) single nucleotide variant Inflammatory bowel disease 28 [RCV001363176]|not provided [RCV003238362] Chr11:117989506 [GRCh38]
Chr11:117860221 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.117986319_117986651del deletion Inflammatory bowel disease 28 [RCV001352677] Chr11:117986315..117986647 [GRCh38]
Chr11:117857030..117857362 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001558.4(IL10RA):c.1729A>T (p.Ser577Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV001368644] Chr11:117999633 [GRCh38]
Chr11:117870348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.21G>A (p.Val7=) single nucleotide variant Inflammatory bowel disease 28 [RCV001422253] Chr11:117986488 [GRCh38]
Chr11:117857203 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.741C>T (p.Ser247=) single nucleotide variant Inflammatory bowel disease 28 [RCV001392221] Chr11:117995641 [GRCh38]
Chr11:117866356 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1158C>T (p.Thr386=) single nucleotide variant Inflammatory bowel disease 28 [RCV001421720] Chr11:117999062 [GRCh38]
Chr11:117869777 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1318G>T (p.Ala440Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV001373474] Chr11:117999222 [GRCh38]
Chr11:117869937 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1026C>G (p.Pro342=) single nucleotide variant Inflammatory bowel disease 28 [RCV002071867]|not provided [RCV001311791] Chr11:117998930 [GRCh38]
Chr11:117869645 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1336T>A (p.Tyr446Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV001298001] Chr11:117999240 [GRCh38]
Chr11:117869955 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1174G>A (p.Gly392Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV001347490] Chr11:117999078 [GRCh38]
Chr11:117869793 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.538T>G (p.Phe180Val) single nucleotide variant Inflammatory bowel disease 28 [RCV001369505] Chr11:117993999 [GRCh38]
Chr11:117864714 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.67+6G>T single nucleotide variant Inflammatory bowel disease 28 [RCV001351345] Chr11:117986540 [GRCh38]
Chr11:117857255 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1400C>T (p.Ser467Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV001324852] Chr11:117999304 [GRCh38]
Chr11:117870019 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.37C>T (p.Leu13Phe) single nucleotide variant Inflammatory bowel disease 28 [RCV001339319] Chr11:117986504 [GRCh38]
Chr11:117857219 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.530A>G (p.Asn177Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV001317481] Chr11:117993403 [GRCh38]
Chr11:117864118 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.274C>T (p.His92Tyr) single nucleotide variant Inflammatory bowel disease 28 [RCV001299810] Chr11:117989527 [GRCh38]
Chr11:117860242 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1247C>G (p.Thr416Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV001366439] Chr11:117999151 [GRCh38]
Chr11:117869866 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.734T>C (p.Leu245Pro) single nucleotide variant Inflammatory bowel disease 28 [RCV001306479] Chr11:117995634 [GRCh38]
Chr11:117866349 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.447G>T (p.Lys149Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV001305165] Chr11:117993320 [GRCh38]
Chr11:117864035 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1_67+1del deletion Inflammatory bowel disease 28 [RCV001352890] Chr11:117986466..117986533 [GRCh38]
Chr11:117857181..117857248 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.999C>T (p.Pro333=) single nucleotide variant Inflammatory bowel disease 28 [RCV001412823] Chr11:117998903 [GRCh38]
Chr11:117869618 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.910G>A (p.Val304Met) single nucleotide variant Inflammatory bowel disease 28 [RCV001326615] Chr11:117998814 [GRCh38]
Chr11:117869529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1321G>A (p.Val441Met) single nucleotide variant Inborn genetic diseases [RCV002550097]|Inflammatory bowel disease 28 [RCV001370072] Chr11:117999225 [GRCh38]
Chr11:117869940 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.282T>C (p.Asn94=) single nucleotide variant Inflammatory bowel disease 28 [RCV001395358] Chr11:117989535 [GRCh38]
Chr11:117860250 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.423G>A (p.Gly141=) single nucleotide variant Inflammatory bowel disease 28 [RCV001490299] Chr11:117993296 [GRCh38]
Chr11:117864011 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.219C>T (p.Ser73=) single nucleotide variant Inflammatory bowel disease 28 [RCV001473057] Chr11:117989472 [GRCh38]
Chr11:117860187 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.138A>G (p.Thr46=) single nucleotide variant Inflammatory bowel disease 28 [RCV001502922] Chr11:117988452 [GRCh38]
Chr11:117859167 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.367+10del deletion Inflammatory bowel disease 28 [RCV001400203] Chr11:117989629 [GRCh38]
Chr11:117860344 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.368-18C>A single nucleotide variant Inflammatory bowel disease 28 [RCV001517067]|not provided [RCV004707641] Chr11:117993223 [GRCh38]
Chr11:117863938 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.117986053G>T single nucleotide variant Inflammatory bowel disease 28 [RCV001511663] Chr11:117986053 [GRCh38]
Chr11:117856768 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.1038A>G (p.Arg346=) single nucleotide variant Inflammatory bowel disease 28 [RCV001506843] Chr11:117998942 [GRCh38]
Chr11:117869657 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.93T>C (p.Ser31=) single nucleotide variant Inflammatory bowel disease 28 [RCV001431227] Chr11:117988407 [GRCh38]
Chr11:117859122 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.678C>T (p.Leu226=) single nucleotide variant Inflammatory bowel disease 28 [RCV001497368] Chr11:117994139 [GRCh38]
Chr11:117864854 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1620C>T (p.Ser540=) single nucleotide variant Inflammatory bowel disease 28 [RCV001498702] Chr11:117999524 [GRCh38]
Chr11:117870239 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1326A>G (p.Ala442=) single nucleotide variant Inflammatory bowel disease 28 [RCV001401625] Chr11:117999230 [GRCh38]
Chr11:117869945 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1415G>A (p.Gly472Asp) single nucleotide variant Inflammatory bowel disease 28 [RCV001419792] Chr11:117999319 [GRCh38]
Chr11:117870034 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.942C>T (p.His314=) single nucleotide variant Inflammatory bowel disease 28 [RCV001407484] Chr11:117998846 [GRCh38]
Chr11:117869561 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1066C>T (p.Leu356=) single nucleotide variant Inflammatory bowel disease 28 [RCV001449072] Chr11:117998970 [GRCh38]
Chr11:117869685 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1140C>T (p.Ser380=) single nucleotide variant Inflammatory bowel disease 28 [RCV001424028] Chr11:117999044 [GRCh38]
Chr11:117869759 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.972C>G (p.Thr324=) single nucleotide variant Inflammatory bowel disease 28 [RCV001411462] Chr11:117998876 [GRCh38]
Chr11:117869591 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.301C>A (p.Arg101=) single nucleotide variant Inflammatory bowel disease 28 [RCV001458344]|not provided [RCV001773750] Chr11:117989554 [GRCh38]
Chr11:117860269 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.885G>A (p.Pro295=) single nucleotide variant Inflammatory bowel disease 28 [RCV001479089]|not provided [RCV004704603] Chr11:117998789 [GRCh38]
Chr11:117869504 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.495A>C (p.Arg165=) single nucleotide variant Inflammatory bowel disease 28 [RCV001470302] Chr11:117993368 [GRCh38]
Chr11:117864083 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1722G>T (p.Leu574=) single nucleotide variant Inflammatory bowel disease 28 [RCV001442682] Chr11:117999626 [GRCh38]
Chr11:117870341 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.813C>G (p.Leu271=) single nucleotide variant Inflammatory bowel disease 28 [RCV001503351] Chr11:117998717 [GRCh38]
Chr11:117869432 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.378A>T (p.Thr126=) single nucleotide variant Inflammatory bowel disease 28 [RCV001425415] Chr11:117993251 [GRCh38]
Chr11:117863966 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.474A>G (p.Glu158=) single nucleotide variant Inflammatory bowel disease 28 [RCV001466046] Chr11:117993347 [GRCh38]
Chr11:117864062 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1284G>A (p.Pro428=) single nucleotide variant Inflammatory bowel disease 28 [RCV001438281] Chr11:117999188 [GRCh38]
Chr11:117869903 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.538-10T>G single nucleotide variant Inflammatory bowel disease 28 [RCV001454977] Chr11:117993989 [GRCh38]
Chr11:117864704 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.756C>A (p.Tyr252Ter) single nucleotide variant Inflammatory bowel disease 28 [RCV001387734] Chr11:117995656 [GRCh38]
Chr11:117866371 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.368-18C>G single nucleotide variant Inflammatory bowel disease 28 [RCV001522573]|not provided [RCV003399320] Chr11:117993223 [GRCh38]
Chr11:117863938 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_001558.4(IL10RA):c.30G>A (p.Ala10=) single nucleotide variant Inflammatory bowel disease 28 [RCV003106913] Chr11:117986497 [GRCh38]
Chr11:117857212 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_001558.4(IL10RA):c.1408A>G (p.Thr470Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV002044073] Chr11:117999312 [GRCh38]
Chr11:117870027 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.416T>A (p.Ile139Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV001983617] Chr11:117993289 [GRCh38]
Chr11:117864004 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_001558.4(IL10RA):c.896A>T (p.Glu299Val) single nucleotide variant Inflammatory bowel disease 28 [RCV001929308] Chr11:117998800 [GRCh38]
Chr11:117869515 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
NM_001558.4(IL10RA):c.975G>C (p.Lys325Asn) single nucleotide variant Inborn genetic diseases [RCV002562855]|Inflammatory bowel disease 28 [RCV001987441] Chr11:117998879 [GRCh38]
Chr11:117869594 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1590C>G (p.Ser530Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV001945073] Chr11:117999494 [GRCh38]
Chr11:117870209 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.184C>A (p.Leu62Met) single nucleotide variant Inflammatory bowel disease 28 [RCV001912952] Chr11:117988498 [GRCh38]
Chr11:117859213 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1181_1237del (p.Asn394_Ala413delinsThr) deletion Inflammatory bowel disease 28 [RCV001910796] Chr11:117999085..117999141 [GRCh38]
Chr11:117869800..117869856 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1318G>A (p.Ala440Thr) single nucleotide variant Inborn genetic diseases [RCV004043000]|Inflammatory bowel disease 28 [RCV001948790] Chr11:117999222 [GRCh38]
Chr11:117869937 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.65A>C (p.His22Pro) single nucleotide variant Inflammatory bowel disease 28 [RCV001947356] Chr11:117986532 [GRCh38]
Chr11:117857247 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1624G>T (p.Ala542Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV001872114] Chr11:117999528 [GRCh38]
Chr11:117870243 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.68-1G>A single nucleotide variant Inflammatory bowel disease 28 [RCV001966719] Chr11:117988381 [GRCh38]
Chr11:117859096 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001558.4(IL10RA):c.517A>G (p.Lys173Glu) single nucleotide variant Inflammatory bowel disease 28 [RCV002001222] Chr11:117993390 [GRCh38]
Chr11:117864105 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.426G>C (p.Lys142Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV002001229] Chr11:117993299 [GRCh38]
Chr11:117864014 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.158A>C (p.Glu53Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV002000884] Chr11:117988472 [GRCh38]
Chr11:117859187 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.810+6T>A single nucleotide variant Inflammatory bowel disease 28 [RCV001959715] Chr11:117995716 [GRCh38]
Chr11:117866431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1495C>T (p.Gln499Ter) single nucleotide variant Inflammatory bowel disease 28 [RCV002030292] Chr11:117999399 [GRCh38]
Chr11:117870114 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1369G>A (p.Ala457Thr) single nucleotide variant Inflammatory bowel disease 28 [RCV002020189] Chr11:117999273 [GRCh38]
Chr11:117869988 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.746C>A (p.Ala249Asp) single nucleotide variant Inflammatory bowel disease 28 [RCV001882227] Chr11:117995646 [GRCh38]
Chr11:117866361 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1166A>T (p.Gln389Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV001994011] Chr11:117999070 [GRCh38]
Chr11:117869785 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.851G>A (p.Arg284His) single nucleotide variant Inflammatory bowel disease 28 [RCV001971824] Chr11:117998755 [GRCh38]
Chr11:117869470 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.524C>T (p.Pro175Leu) single nucleotide variant Inborn genetic diseases [RCV004043025]|Inflammatory bowel disease 28 [RCV001934221] Chr11:117993397 [GRCh38]
Chr11:117864112 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.922C>A (p.Leu308Met) single nucleotide variant Inflammatory bowel disease 28 [RCV002046638] Chr11:117998826 [GRCh38]
Chr11:117869541 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1534C>T (p.Pro512Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV002014347] Chr11:117999438 [GRCh38]
Chr11:117870153 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1139G>A (p.Ser380Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV001959218] Chr11:117999043 [GRCh38]
Chr11:117869758 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.769C>T (p.Gln257Ter) single nucleotide variant Inflammatory bowel disease 28 [RCV001974279] Chr11:117995669 [GRCh38]
Chr11:117866384 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001558.4(IL10RA):c.1253G>A (p.Gly418Asp) single nucleotide variant Inflammatory bowel disease 28 [RCV001981985] Chr11:117999157 [GRCh38]
Chr11:117869872 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1108A>T (p.Ser370Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV001919744] Chr11:117999012 [GRCh38]
Chr11:117869727 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_001558.4(IL10RA):c.618dup (p.Pro207fs) duplication Inflammatory bowel disease 28 [RCV001972249] Chr11:117994076..117994077 [GRCh38]
Chr11:117864791..117864792 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.1309G>A (p.Asp437Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV001883678] Chr11:117999213 [GRCh38]
Chr11:117869928 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1118G>T (p.Cys373Phe) single nucleotide variant Inflammatory bowel disease 28 [RCV001959412] Chr11:117999022 [GRCh38]
Chr11:117869737 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1458C>T (p.Gly486=) single nucleotide variant Inflammatory bowel disease 28 [RCV001904906] Chr11:117999362 [GRCh38]
Chr11:117870077 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.515G>A (p.Arg172His) single nucleotide variant Inflammatory bowel disease 28 [RCV001940349] Chr11:117993388 [GRCh38]
Chr11:117864103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.17T>C (p.Val6Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV001926006] Chr11:117986484 [GRCh38]
Chr11:117857199 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.290G>A (p.Arg97Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV001925292] Chr11:117989543 [GRCh38]
Chr11:117860258 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.367+4C>T single nucleotide variant Inflammatory bowel disease 28 [RCV002029869] Chr11:117989624 [GRCh38]
Chr11:117860339 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.873C>G (p.Asp291Glu) single nucleotide variant Inflammatory bowel disease 28 [RCV001954098] Chr11:117998777 [GRCh38]
Chr11:117869492 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1111G>A (p.Gly371Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV001876951] Chr11:117999015 [GRCh38]
Chr11:117869730 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.697G>T (p.Val233Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV002050991] Chr11:117995597 [GRCh38]
Chr11:117866312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.810+11C>T single nucleotide variant Inflammatory bowel disease 28 [RCV002049292] Chr11:117995721 [GRCh38]
Chr11:117866436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.792G>A (p.Lys264=) single nucleotide variant Inflammatory bowel disease 28 [RCV002086955] Chr11:117995692 [GRCh38]
Chr11:117866407 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.368-20C>A single nucleotide variant Inflammatory bowel disease 28 [RCV002125970] Chr11:117993221 [GRCh38]
Chr11:117863936 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1203T>C (p.Ser401=) single nucleotide variant Inflammatory bowel disease 28 [RCV002087238] Chr11:117999107 [GRCh38]
Chr11:117869822 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.368-20C>T single nucleotide variant Inflammatory bowel disease 28 [RCV002151317] Chr11:117993221 [GRCh38]
Chr11:117863936 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.120C>T (p.His40=) single nucleotide variant Inflammatory bowel disease 28 [RCV002213108] Chr11:117988434 [GRCh38]
Chr11:117859149 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.688+17G>A single nucleotide variant Inflammatory bowel disease 28 [RCV002078843] Chr11:117994166 [GRCh38]
Chr11:117864881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1695G>T (p.Leu565=) single nucleotide variant Inflammatory bowel disease 28 [RCV002171564] Chr11:117999599 [GRCh38]
Chr11:117870314 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.804T>C (p.Ser268=) single nucleotide variant Inflammatory bowel disease 28 [RCV002095372] Chr11:117995704 [GRCh38]
Chr11:117866419 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1197T>C (p.Asp399=) single nucleotide variant Inflammatory bowel disease 28 [RCV002079068]|not provided [RCV003222394] Chr11:117999101 [GRCh38]
Chr11:117869816 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1050_1051inv (p.Arg351Gly) inversion Inflammatory bowel disease 28 [RCV002175143] Chr11:117998954..117998955 [GRCh38]
Chr11:117869669..117869670 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.798A>G (p.Leu266=) single nucleotide variant Inflammatory bowel disease 28 [RCV002092701] Chr11:117995698 [GRCh38]
Chr11:117866413 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.67+20C>T single nucleotide variant Inflammatory bowel disease 28 [RCV002196169] Chr11:117986554 [GRCh38]
Chr11:117857269 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.126C>T (p.Ile42=) single nucleotide variant Inflammatory bowel disease 28 [RCV002213365] Chr11:117988440 [GRCh38]
Chr11:117859155 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1689A>C (p.Ser563=) single nucleotide variant Inflammatory bowel disease 28 [RCV002134777] Chr11:117999593 [GRCh38]
Chr11:117870308 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1704G>A (p.Leu568=) single nucleotide variant Inflammatory bowel disease 28 [RCV002113319] Chr11:117999608 [GRCh38]
Chr11:117870323 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.336C>G (p.Thr112=) single nucleotide variant Inflammatory bowel disease 28 [RCV002210801] Chr11:117989589 [GRCh38]
Chr11:117860304 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.68-16A>G single nucleotide variant Inflammatory bowel disease 28 [RCV002137175] Chr11:117988366 [GRCh38]
Chr11:117859081 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.67+17C>T single nucleotide variant Inflammatory bowel disease 28 [RCV002177235] Chr11:117986551 [GRCh38]
Chr11:117857266 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1716T>C (p.Ser572=) single nucleotide variant Inflammatory bowel disease 28 [RCV002135855] Chr11:117999620 [GRCh38]
Chr11:117870335 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.45C>T (p.Leu15=) single nucleotide variant Inflammatory bowel disease 28 [RCV002136367] Chr11:117986512 [GRCh38]
Chr11:117857227 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.537+7_537+10dup duplication Inflammatory bowel disease 28 [RCV002101277] Chr11:117993416..117993417 [GRCh38]
Chr11:117864131..117864132 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1482G>A (p.Lys494=) single nucleotide variant Inflammatory bowel disease 28 [RCV002217882] Chr11:117999386 [GRCh38]
Chr11:117870101 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1701C>T (p.Thr567=) single nucleotide variant Inflammatory bowel disease 28 [RCV002099688] Chr11:117999605 [GRCh38]
Chr11:117870320 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.684G>A (p.Arg228=) single nucleotide variant Inflammatory bowel disease 28 [RCV002144450] Chr11:117994145 [GRCh38]
Chr11:117864860 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.368-16C>A single nucleotide variant Inflammatory bowel disease 28 [RCV002154190] Chr11:117993225 [GRCh38]
Chr11:117863940 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.465C>T (p.Asp155=) single nucleotide variant Inflammatory bowel disease 28 [RCV002120398] Chr11:117993338 [GRCh38]
Chr11:117864053 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1392G>A (p.Glu464=) single nucleotide variant Inflammatory bowel disease 28 [RCV002099401] Chr11:117999296 [GRCh38]
Chr11:117870011 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.537+17G>T single nucleotide variant Inflammatory bowel disease 28 [RCV002217521] Chr11:117993427 [GRCh38]
Chr11:117864142 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.811-13C>T single nucleotide variant Inflammatory bowel disease 28 [RCV002155818] Chr11:117998702 [GRCh38]
Chr11:117869417 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116660844)_(117870356_?)del deletion Nephronophthisis 15 [RCV003119459]|not provided [RCV003109683] Chr11:116660844..117870356 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001558.4(IL10RA):c.1296G>A (p.Val432=) single nucleotide variant Inflammatory bowel disease 28 [RCV003113054] Chr11:117999200 [GRCh38]
Chr11:117869915 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.177G>A (p.Val59=) single nucleotide variant Inflammatory bowel disease 28 [RCV003117875] Chr11:117988491 [GRCh38]
Chr11:117859206 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1685A>T (p.Asn562Ile) single nucleotide variant Inflammatory bowel disease 28 [RCV003117888] Chr11:117999589 [GRCh38]
Chr11:117870304 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.703A>G (p.Asn235Asp) single nucleotide variant Inflammatory bowel disease 28 [RCV003121306] Chr11:117995603 [GRCh38]
Chr11:117866318 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.419T>G (p.Leu140Arg) single nucleotide variant not provided [RCV003235859] Chr11:117993292 [GRCh38]
Chr11:117864007 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001558.4(IL10RA):c.540C>T (p.Phe180=) single nucleotide variant not provided [RCV002292843] Chr11:117994001 [GRCh38]
Chr11:117864716 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.742G>A (p.Gly248Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV002304793] Chr11:117995642 [GRCh38]
Chr11:117866357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.237G>C (p.Leu79=) single nucleotide variant Inflammatory bowel disease 28 [RCV002861442] Chr11:117989490 [GRCh38]
Chr11:117860205 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.367+10C>T single nucleotide variant Inflammatory bowel disease 28 [RCV002839560] Chr11:117989630 [GRCh38]
Chr11:117860345 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1035C>G (p.Asp345Glu) single nucleotide variant Inborn genetic diseases [RCV002772048] Chr11:117998939 [GRCh38]
Chr11:117869654 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.258_279dup (p.Asn94fs) duplication Inflammatory bowel disease 28 [RCV002775181] Chr11:117989510..117989511 [GRCh38]
Chr11:117860225..117860226 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.811-15C>T single nucleotide variant Inflammatory bowel disease 28 [RCV003015782] Chr11:117998700 [GRCh38]
Chr11:117869415 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1270C>A (p.His424Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV002731247] Chr11:117999174 [GRCh38]
Chr11:117869889 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.189-12G>C single nucleotide variant Inflammatory bowel disease 28 [RCV002838159] Chr11:117989430 [GRCh38]
Chr11:117860145 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1567T>C (p.Trp523Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV002843782] Chr11:117999471 [GRCh38]
Chr11:117870186 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.81C>G (p.Pro27=) single nucleotide variant Inflammatory bowel disease 28 [RCV002995691] Chr11:117988395 [GRCh38]
Chr11:117859110 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1404C>T (p.Pro468=) single nucleotide variant Inflammatory bowel disease 28 [RCV002796200] Chr11:117999308 [GRCh38]
Chr11:117870023 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.689-8G>T single nucleotide variant Inflammatory bowel disease 28 [RCV002570864] Chr11:117995581 [GRCh38]
Chr11:117866296 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1715C>G (p.Ser572Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV002800565] Chr11:117999619 [GRCh38]
Chr11:117870334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.307G>C (p.Val103Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV002823727] Chr11:117989560 [GRCh38]
Chr11:117860275 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.367+12C>G single nucleotide variant Inflammatory bowel disease 28 [RCV002590868] Chr11:117989632 [GRCh38]
Chr11:117860347 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1551C>T (p.Asn517=) single nucleotide variant Inflammatory bowel disease 28 [RCV002795171] Chr11:117999455 [GRCh38]
Chr11:117870170 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1149A>G (p.Thr383=) single nucleotide variant Inflammatory bowel disease 28 [RCV002706035] Chr11:117999053 [GRCh38]
Chr11:117869768 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1338C>T (p.Tyr446=) single nucleotide variant Inflammatory bowel disease 28 [RCV002848435] Chr11:117999242 [GRCh38]
Chr11:117869957 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1409C>G (p.Thr470Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV002926859] Chr11:117999313 [GRCh38]
Chr11:117870028 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.846C>A (p.Ser282Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV002622604] Chr11:117998750 [GRCh38]
Chr11:117869465 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.187A>G (p.Arg63Gly) single nucleotide variant Inborn genetic diseases [RCV003009002]|Inflammatory bowel disease 28 [RCV002999558] Chr11:117988501 [GRCh38]
Chr11:117859216 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.470A>G (p.Tyr157Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV003037432] Chr11:117993343 [GRCh38]
Chr11:117864058 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.140C>G (p.Pro47Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV002909639] Chr11:117988454 [GRCh38]
Chr11:117859169 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1248A>G (p.Thr416=) single nucleotide variant Inflammatory bowel disease 28 [RCV002913649] Chr11:117999152 [GRCh38]
Chr11:117869867 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.439_452del (p.Arg147fs) deletion Inflammatory bowel disease 28 [RCV002852849] Chr11:117993311..117993324 [GRCh38]
Chr11:117864026..117864039 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.452C>G (p.Ala151Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV002829280] Chr11:117993325 [GRCh38]
Chr11:117864040 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.782G>A (p.Arg261Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV002624885] Chr11:117995682 [GRCh38]
Chr11:117866397 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.150T>G (p.Asn50Lys) single nucleotide variant Inflammatory bowel disease 28 [RCV002741489] Chr11:117988464 [GRCh38]
Chr11:117859179 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.887T>C (p.Leu296Pro) single nucleotide variant Inflammatory bowel disease 28 [RCV003023327] Chr11:117998791 [GRCh38]
Chr11:117869506 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1025C>T (p.Pro342Leu) single nucleotide variant Inborn genetic diseases [RCV002875483] Chr11:117998929 [GRCh38]
Chr11:117869644 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.859C>G (p.Pro287Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV002958447] Chr11:117998763 [GRCh38]
Chr11:117869478 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1047A>C (p.Gly349=) single nucleotide variant Inflammatory bowel disease 28 [RCV003023339] Chr11:117998951 [GRCh38]
Chr11:117869666 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1594A>G (p.Ser532Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV002642591] Chr11:117999498 [GRCh38]
Chr11:117870213 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.660A>G (p.Lys220=) single nucleotide variant Inflammatory bowel disease 28 [RCV002932007] Chr11:117994121 [GRCh38]
Chr11:117864836 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.688T>C (p.Tyr230His) single nucleotide variant Inflammatory bowel disease 28 [RCV002700993] Chr11:117994149 [GRCh38]
Chr11:117864864 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1141C>T (p.Pro381Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV002675559] Chr11:117999045 [GRCh38]
Chr11:117869760 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.262T>C (p.Leu88=) single nucleotide variant Inflammatory bowel disease 28 [RCV002651136] Chr11:117989515 [GRCh38]
Chr11:117860230 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.494G>A (p.Arg165Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV002898692] Chr11:117993367 [GRCh38]
Chr11:117864082 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.594G>A (p.Val198=) single nucleotide variant Inflammatory bowel disease 28 [RCV002671219] Chr11:117994055 [GRCh38]
Chr11:117864770 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.991G>A (p.Glu331Lys) single nucleotide variant Inborn genetic diseases [RCV002959969] Chr11:117998895 [GRCh38]
Chr11:117869610 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.284G>T (p.Gly95Val) single nucleotide variant Inflammatory bowel disease 28 [RCV002833074] Chr11:117989537 [GRCh38]
Chr11:117860252 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.874A>G (p.Thr292Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV003046406] Chr11:117998778 [GRCh38]
Chr11:117869493 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.188+14A>G single nucleotide variant Inflammatory bowel disease 28 [RCV003047527] Chr11:117988516 [GRCh38]
Chr11:117859231 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.362A>T (p.Asp121Val) single nucleotide variant Inflammatory bowel disease 28 [RCV002832891] Chr11:117989615 [GRCh38]
Chr11:117860330 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1620C>A (p.Ser540Arg) single nucleotide variant Inborn genetic diseases [RCV002855506] Chr11:117999524 [GRCh38]
Chr11:117870239 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.687G>C (p.Gln229His) single nucleotide variant Inflammatory bowel disease 28 [RCV003029915] Chr11:117994148 [GRCh38]
Chr11:117864863 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.592G>A (p.Val198Met) single nucleotide variant Inflammatory bowel disease 28 [RCV002601181] Chr11:117994053 [GRCh38]
Chr11:117864768 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.717C>T (p.Phe239=) single nucleotide variant Inflammatory bowel disease 28 [RCV003047400] Chr11:117995617 [GRCh38]
Chr11:117866332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.318C>T (p.Ser106=) single nucleotide variant Inflammatory bowel disease 28 [RCV002899786] Chr11:117989571 [GRCh38]
Chr11:117860286 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.635G>A (p.Arg212Gln) single nucleotide variant Inflammatory bowel disease 28 [RCV002770945] Chr11:117994096 [GRCh38]
Chr11:117864811 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.811-11C>G single nucleotide variant Inflammatory bowel disease 28 [RCV003086754] Chr11:117998704 [GRCh38]
Chr11:117869419 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.646G>A (p.Gly216Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV003044191] Chr11:117994107 [GRCh38]
Chr11:117864822 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1091G>A (p.Ser364Asn) single nucleotide variant Inflammatory bowel disease 28 [RCV002583477] Chr11:117998995 [GRCh38]
Chr11:117869710 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.736C>T (p.Leu246Phe) single nucleotide variant Inflammatory bowel disease 28 [RCV002721577] Chr11:117995636 [GRCh38]
Chr11:117866351 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1064T>A (p.Val355Glu) single nucleotide variant Inborn genetic diseases [RCV002589007]|Inflammatory bowel disease 28 [RCV002586834] Chr11:117998968 [GRCh38]
Chr11:117869683 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001558.4(IL10RA):c.155C>G (p.Ser52Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV002609932] Chr11:117988469 [GRCh38]
Chr11:117859184 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1110C>T (p.Ser370=) single nucleotide variant Inflammatory bowel disease 28 [RCV002943223] Chr11:117999014 [GRCh38]
Chr11:117869729 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1095C>T (p.Ser365=) single nucleotide variant Inflammatory bowel disease 28 [RCV003066762] Chr11:117998999 [GRCh38]
Chr11:117869714 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.13C>T (p.Leu5Phe) single nucleotide variant Inflammatory bowel disease 28 [RCV002610842] Chr11:117986480 [GRCh38]
Chr11:117857195 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1183A>G (p.Ser395Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV002587393] Chr11:117999087 [GRCh38]
Chr11:117869802 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.368-18C>T single nucleotide variant Inflammatory bowel disease 28 [RCV002611105] Chr11:117993223 [GRCh38]
Chr11:117863938 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.71C>A (p.Thr24Lys) single nucleotide variant Inborn genetic diseases [RCV004065815]|Inflammatory bowel disease 28 [RCV002609377] Chr11:117988385 [GRCh38]
Chr11:117859100 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.44T>C (p.Leu15Pro) single nucleotide variant Inflammatory bowel disease 28 [RCV002943874] Chr11:117986511 [GRCh38]
Chr11:117857226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1734G>A (p.Glu578=) single nucleotide variant Inflammatory bowel disease 28 [RCV003070135] Chr11:117999638 [GRCh38]
Chr11:117870353 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.188+18G>A single nucleotide variant Inflammatory bowel disease 28 [RCV002612636] Chr11:117988520 [GRCh38]
Chr11:117859235 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.799C>G (p.Pro267Ala) single nucleotide variant Inflammatory bowel disease 28 [RCV003133698] Chr11:117995699 [GRCh38]
Chr11:117866414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.310G>A (p.Asp104Asn) single nucleotide variant Inborn genetic diseases [RCV003201007] Chr11:117989563 [GRCh38]
Chr11:117860278 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1322T>C (p.Val441Ala) single nucleotide variant Inborn genetic diseases [RCV003378811] Chr11:117999226 [GRCh38]
Chr11:117869941 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1669C>T (p.Leu557Phe) single nucleotide variant Inflammatory bowel disease 28 [RCV003873959] Chr11:117999573 [GRCh38]
Chr11:117870288 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1324G>T (p.Ala442Ser) single nucleotide variant Inflammatory bowel disease 28 [RCV003875219] Chr11:117999228 [GRCh38]
Chr11:117869943 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.67+89G>C single nucleotide variant not specified [RCV003397092] Chr11:117986623 [GRCh38]
Chr11:117857338 [GRCh37]
Chr11:11q23.3		 benign
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_001558.4(IL10RA):c.67+139C>T single nucleotide variant not provided [RCV003410927] Chr11:117986673 [GRCh38]
Chr11:117857388 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1431C>T (p.Phe477=) single nucleotide variant Inflammatory bowel disease 28 [RCV003526912] Chr11:117999335 [GRCh38]
Chr11:117870050 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.349C>T (p.Arg117Cys) single nucleotide variant Inflammatory bowel disease 28 [RCV003527589] Chr11:117989602 [GRCh38]
Chr11:117860317 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.537+12C>T single nucleotide variant Inflammatory bowel disease 28 [RCV003828189] Chr11:117993422 [GRCh38]
Chr11:117864137 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.68-114G>A single nucleotide variant not specified [RCV003490367] Chr11:117988268 [GRCh38]
Chr11:117858983 [GRCh37]
Chr11:11q23.3		 benign
NM_001558.4(IL10RA):c.810+19_810+24del deletion Inflammatory bowel disease 28 [RCV003525772] Chr11:117995728..117995733 [GRCh38]
Chr11:117866443..117866448 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.627C>T (p.Val209=) single nucleotide variant Inflammatory bowel disease 28 [RCV003526725] Chr11:117994088 [GRCh38]
Chr11:117864803 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1239T>A (p.Ala413=) single nucleotide variant Inflammatory bowel disease 28 [RCV003879459] Chr11:117999143 [GRCh38]
Chr11:117869858 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.501T>G (p.Tyr167Ter) single nucleotide variant Inflammatory bowel disease 28 [RCV003527027] Chr11:117993374 [GRCh38]
Chr11:117864089 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001558.4(IL10RA):c.1272C>T (p.His424=) single nucleotide variant Inflammatory bowel disease 28 [RCV003527103] Chr11:117999176 [GRCh38]
Chr11:117869891 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1113G>A (p.Gly371=) single nucleotide variant Inflammatory bowel disease 28 [RCV003811688] Chr11:117999017 [GRCh38]
Chr11:117869732 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.456C>T (p.Pro152=) single nucleotide variant Inflammatory bowel disease 28 [RCV003836665] Chr11:117993329 [GRCh38]
Chr11:117864044 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.401T>C (p.Ile134Thr) single nucleotide variant Inflammatory bowel disease 28 [RCV003815803] Chr11:117993274 [GRCh38]
Chr11:117863989 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1635T>G (p.Leu545=) single nucleotide variant Inflammatory bowel disease 28 [RCV003852544] Chr11:117999539 [GRCh38]
Chr11:117870254 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1502C>T (p.Pro501Leu) single nucleotide variant Inflammatory bowel disease 28 [RCV003852303] Chr11:117999406 [GRCh38]
Chr11:117870121 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.689-14C>T single nucleotide variant Inflammatory bowel disease 28 [RCV003639932] Chr11:117995575 [GRCh38]
Chr11:117866290 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1173G>A (p.Val391=) single nucleotide variant Inflammatory bowel disease 28 [RCV003639411] Chr11:117999077 [GRCh38]
Chr11:117869792 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.936C>T (p.Asp312=) single nucleotide variant Inflammatory bowel disease 28 [RCV003639243] Chr11:117998840 [GRCh38]
Chr11:117869555 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.464A>G (p.Asp155Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV003639587] Chr11:117993337 [GRCh38]
Chr11:117864052 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.368-20C>G single nucleotide variant Inflammatory bowel disease 28 [RCV003639328] Chr11:117993221 [GRCh38]
Chr11:117863936 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1093A>G (p.Ser365Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV003638167] Chr11:117998997 [GRCh38]
Chr11:117869712 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.555A>G (p.Val185=) single nucleotide variant Inflammatory bowel disease 28 [RCV003639807] Chr11:117994016 [GRCh38]
Chr11:117864731 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.68-6C>T single nucleotide variant Inflammatory bowel disease 28 [RCV003639047] Chr11:117988376 [GRCh38]
Chr11:117859091 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.927G>A (p.Lys309=) single nucleotide variant Inflammatory bowel disease 28 [RCV003818342] Chr11:117998831 [GRCh38]
Chr11:117869546 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.537+20C>G single nucleotide variant Inflammatory bowel disease 28 [RCV003639307] Chr11:117993430 [GRCh38]
Chr11:117864145 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.300G>A (p.Val100=) single nucleotide variant Inflammatory bowel disease 28 [RCV003639824] Chr11:117989553 [GRCh38]
Chr11:117860268 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.132C>T (p.His44=) single nucleotide variant Inflammatory bowel disease 28 [RCV003640141] Chr11:117988446 [GRCh38]
Chr11:117859161 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.861A>G (p.Pro287=) single nucleotide variant Inflammatory bowel disease 28 [RCV003865136] Chr11:117998765 [GRCh38]
Chr11:117869480 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.537+13C>G single nucleotide variant Inflammatory bowel disease 28 [RCV003867234] Chr11:117993423 [GRCh38]
Chr11:117864138 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.538-20T>C single nucleotide variant Inflammatory bowel disease 28 [RCV003639095] Chr11:117993979 [GRCh38]
Chr11:117864694 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.627C>A (p.Val209=) single nucleotide variant Inflammatory bowel disease 28 [RCV003639422] Chr11:117994088 [GRCh38]
Chr11:117864803 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1446T>G (p.Val482=) single nucleotide variant Inflammatory bowel disease 28 [RCV003639288] Chr11:117999350 [GRCh38]
Chr11:117870065 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1240G>A (p.Gly414Arg) single nucleotide variant Inflammatory bowel disease 28 [RCV003639409] Chr11:117999144 [GRCh38]
Chr11:117869859 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.689-8G>A single nucleotide variant Inflammatory bowel disease 28 [RCV003639477] Chr11:117995581 [GRCh38]
Chr11:117866296 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.537+18G>T single nucleotide variant Inflammatory bowel disease 28 [RCV003639365] Chr11:117993428 [GRCh38]
Chr11:117864143 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1671C>A (p.Leu557=) single nucleotide variant Inflammatory bowel disease 28 [RCV003639719] Chr11:117999575 [GRCh38]
Chr11:117870290 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.582C>G (p.Thr194=) single nucleotide variant Inflammatory bowel disease 28 [RCV003639813] Chr11:117994043 [GRCh38]
Chr11:117864758 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001558.4(IL10RA):c.67+8T>G single nucleotide variant IL10RA-related disorder [RCV003902249] Chr11:117986542 [GRCh38]
Chr11:117857257 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001558.4(IL10RA):c.1569G>T (p.Trp523Cys) single nucleotide variant Inborn genetic diseases [RCV004404918] Chr11:117999473 [GRCh38]
Chr11:117870188 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.500A>T (p.Tyr167Phe) single nucleotide variant Inborn genetic diseases [RCV004404919] Chr11:117993373 [GRCh38]
Chr11:117864088 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.656C>T (p.Ser219Phe) single nucleotide variant Inborn genetic diseases [RCV004404920] Chr11:117994117 [GRCh38]
Chr11:117864832 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117857183)_(117866445_?)dup duplication Inflammatory bowel disease 28 [RCV004580247] Chr11:117857183..117866445 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1619G>T (p.Ser540Ile) single nucleotide variant Inborn genetic diseases [RCV004627916] Chr11:117999523 [GRCh38]
Chr11:117870238 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1468C>G (p.Pro490Ala) single nucleotide variant Inborn genetic diseases [RCV004627917] Chr11:117999372 [GRCh38]
Chr11:117870087 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.1649G>A (p.Cys550Tyr) single nucleotide variant not provided [RCV004724106] Chr11:117999553 [GRCh38]
Chr11:117870268 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.637A>G (p.Ser213Gly) single nucleotide variant Inflammatory bowel disease 28 [RCV004764828] Chr11:117994098 [GRCh38]
Chr11:117864813 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001558.4(IL10RA):c.493C>T (p.Arg165Ter) single nucleotide variant Inflammatory bowel disease 28 [RCV004720704] Chr11:117993366 [GRCh38]
Chr11:117864081 [GRCh37]
Chr11:11q23.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5939
Count of miRNA genes:1188
Interacting mature miRNAs:1548
Transcripts:ENST00000227752, ENST00000525467, ENST00000526544, ENST00000529924, ENST00000530178, ENST00000530761, ENST00000531365, ENST00000532009, ENST00000533700, ENST00000534335, ENST00000534574, ENST00000541785, ENST00000545409
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407195271GWAS844247_Hlipid measurement QTL GWAS844247 (human)0.000004lipid measurementblood lipid measurement (CMO:0000050)11117993348117993349Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human

Markers in Region
G15965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,871,818 - 117,872,019UniSTSGRCh37
Build 3611117,377,028 - 117,377,229RGDNCBI36
Celera11115,029,657 - 115,029,858RGD
Cytogenetic Map11q23UniSTS
HuRef11113,805,495 - 113,805,696UniSTS
RH17971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,871,706 - 117,871,975UniSTSGRCh37
Build 3611117,376,916 - 117,377,185RGDNCBI36
Celera11115,029,545 - 115,029,814RGD
Cytogenetic Map11q23UniSTS
HuRef11113,805,383 - 113,805,652UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
WI-7357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,870,831 - 117,871,165UniSTSGRCh37
Build 3611117,376,041 - 117,376,375RGDNCBI36
Celera11115,028,670 - 115,029,004RGD
Cytogenetic Map11q23UniSTS
HuRef11113,804,508 - 113,804,842UniSTS
GeneMap99-GB4 RH Map11378.44UniSTS
Whitehead-RH Map11520.4UniSTS
Whitehead-YAC Contig Map11 UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2388 2788 2251 4786 1709 2269 4 613 1927 453 2135 7213 6435 29 3675 1 832 1700 1548 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_026691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY195619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM193545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA307153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF444988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN591377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U00672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000227752   ⟹   ENSP00000227752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,394 - 118,001,483 (+)Ensembl
Ensembl Acc Id: ENST00000525467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,399 - 118,001,471 (+)Ensembl
Ensembl Acc Id: ENST00000526544   ⟹   ENSP00000435317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,394 - 117,999,788 (+)Ensembl
Ensembl Acc Id: ENST00000529924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,737 - 118,003,037 (+)Ensembl
Ensembl Acc Id: ENST00000530178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,993,008 - 117,998,945 (+)Ensembl
Ensembl Acc Id: ENST00000530761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,370 - 117,999,798 (+)Ensembl
Ensembl Acc Id: ENST00000531365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,441 - 117,989,693 (+)Ensembl
Ensembl Acc Id: ENST00000532009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,993,058 - 117,994,207 (+)Ensembl
Ensembl Acc Id: ENST00000533700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,391 - 117,999,877 (+)Ensembl
Ensembl Acc Id: ENST00000534335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,989,434 - 117,993,410 (+)Ensembl
Ensembl Acc Id: ENST00000534574   ⟹   ENSP00000436328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,394 - 117,999,898 (+)Ensembl
Ensembl Acc Id: ENST00000696732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,986,394 - 118,001,471 (+)Ensembl
RefSeq Acc Id: NM_001558   ⟹   NP_001549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,986,394 - 118,001,483 (+)NCBI
GRCh3711117,857,106 - 117,872,198 (+)ENTREZGENE
Build 3611117,362,319 - 117,377,404 (+)NCBI Archive
HuRef11113,790,784 - 113,805,875 (+)ENTREZGENE
CHM1_111117,742,666 - 117,757,757 (+)NCBI
T2T-CHM13v2.011118,002,774 - 118,017,862 (+)NCBI
Sequence:
RefSeq Acc Id: NR_026691
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,986,394 - 118,003,037 (+)NCBI
GRCh3711117,857,106 - 117,872,198 (+)ENTREZGENE
HuRef11113,790,784 - 113,805,875 (+)ENTREZGENE
CHM1_111117,742,666 - 117,757,757 (+)NCBI
T2T-CHM13v2.011118,002,774 - 118,019,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426882   ⟹   XP_047282838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,986,394 - 118,003,037 (+)NCBI
RefSeq Acc Id: XM_047426883   ⟹   XP_047282839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,989,945 - 118,003,037 (+)NCBI
RefSeq Acc Id: XM_047426884   ⟹   XP_047282840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,988,418 - 118,003,037 (+)NCBI
RefSeq Acc Id: XM_054368667   ⟹   XP_054224642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,002,773 - 118,019,416 (+)NCBI
RefSeq Acc Id: XM_054368668   ⟹   XP_054224643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,006,007 - 118,019,416 (+)NCBI
RefSeq Acc Id: XM_054368669   ⟹   XP_054224644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,004,798 - 118,019,416 (+)NCBI
RefSeq Acc Id: NP_001549   ⟸   NM_001558
- Peptide Label: precursor
- UniProtKB: A8K6I0 (UniProtKB/Swiss-Prot),   B0YJ27 (UniProtKB/Swiss-Prot),   Q13651 (UniProtKB/Swiss-Prot),   H2DF05 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000227752   ⟸   ENST00000227752
Ensembl Acc Id: ENSP00000436328   ⟸   ENST00000534574
Ensembl Acc Id: ENSP00000435317   ⟸   ENST00000526544
RefSeq Acc Id: XP_047282838   ⟸   XM_047426882
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047282840   ⟸   XM_047426884
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282839   ⟸   XM_047426883
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054224642   ⟸   XM_054368667
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224644   ⟸   XM_054368669
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224643   ⟸   XM_054368668
- Peptide Label: isoform X2
Protein Domains
Fibronectin type-III

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13651-F1-model_v2 AlphaFold Q13651 1-578 view protein structure

Promoters
RGD ID:6789008
Promoter ID:HG_KWN:14297
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001558,   NR_026691,   UC001PRW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,362,236 - 117,363,137 (+)MPROMDB
RGD ID:7222273
Promoter ID:EPDNEW_H16883
Type:initiation region
Name:IL10RA_1
Description:interleukin 10 receptor subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,986,394 - 117,986,454EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5964 AgrOrtholog
COSMIC IL10RA COSMIC
Ensembl Genes ENSG00000110324 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000227752 ENTREZGENE
  ENST00000227752.8 UniProtKB/Swiss-Prot
  ENST00000526544.5 UniProtKB/TrEMBL
  ENST00000534574.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110324 GTEx
HGNC ID HGNC:5964 ENTREZGENE
Human Proteome Map IL10RA Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Type-II_Cytokine-TF_Rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3587 UniProtKB/Swiss-Prot
NCBI Gene 3587 ENTREZGENE
OMIM 146933 OMIM
PANTHER INTERFERON/INTERLEUKIN RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTERLEUKIN-10 RECEPTOR SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tissue_fac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB IL10RA RGD, PharmGKB
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K6I0 ENTREZGENE
  B0YJ27 ENTREZGENE
  E9PKU2_HUMAN UniProtKB/TrEMBL
  E9PPU4_HUMAN UniProtKB/TrEMBL
  H2DF05 ENTREZGENE, UniProtKB/TrEMBL
  I10R1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K6I0 UniProtKB/Swiss-Prot
  B0YJ27 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 IL10RA  interleukin 10 receptor subunit alpha  IL10RA  interleukin 10 receptor, alpha  Symbol and/or name change 5135510 APPROVED