IL21R (interleukin 21 receptor) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: IL21R (interleukin 21 receptor) Homo sapiens
Analyze
Symbol: IL21R
Name: interleukin 21 receptor
RGD ID: 1312687
HGNC Page HGNC:6006
Description: Enables cytokine receptor activity. Predicted to be involved in cytokine-mediated signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. Implicated in B-cell lymphoma (multiple); Crohn's disease; autoimmune disease (multiple); human immunodeficiency virus infectious disease; and immunodeficiency 56. Biomarker of atopic dermatitis; inflammatory bowel disease; and multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD360; IL-21 receptor; IL-21R; IMD56; interleukin-21 receptor; MGC10967; NILR; novel interleukin receptor
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
GRCh381627,402,174 - 27,452,042 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1627,402,174 - 27,452,042 (+)EnsemblGRCh38hg38GRCh38
GRCh371627,413,495 - 27,463,363 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361627,321,224 - 27,369,616 (+)NCBINCBI36Build 36hg18NCBI36
Build 341627,321,923 - 27,369,616NCBI
Celera1626,190,799 - 26,240,689 (+)NCBICelera
Cytogenetic Map16p12.1NCBI
HuRef1625,501,903 - 25,551,799 (+)NCBIHuRef
CHM1_11628,425,032 - 28,475,081 (+)NCBICHM1_1
T2T-CHM13v2.01627,680,921 - 27,730,794 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. A critical role for IL-21 receptor signaling in the pathogenesis of systemic lupus erythematosus in BXSB-Yaa mice. Bubier JA, etal., Proc Natl Acad Sci U S A. 2009 Feb 3;106(5):1518-23. Epub 2009 Jan 21.
2. IL-21R on T cells is critical for sustained functionality and control of chronic viral infection. Frohlich A, etal., Science. 2009 Jun 19;324(5934):1576-80. Epub 2009 May 28.
3. Regulatory dendritic cells protect against allergic airway inflammation in a murine asthmatic model. Fujita S, etal., J Allergy Clin Immunol. 2008 Jan;121(1):95-104.e7. Epub 2007 Oct 17.
4. Critical role of IL-21 in modulating TH17 and regulatory T cells in Behcet disease. Geri G, etal., J Allergy Clin Immunol. 2011 Sep;128(3):655-64. Epub 2011 Jul 2.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Abrogation of donor T-cell IL-21 signaling leads to tissue-specific modulation of immunity and separation of GVHD from GVL. Hanash AM, etal., Blood. 2011 Jul 14;118(2):446-55. Epub 2011 May 19.
7. A positive feedback loop of IL-21 signaling provoked by homeostatic CD4+CD25- T cell expansion is essential for the development of arthritis in autoimmune K/BxN mice. Jang E, etal., J Immunol. 2009 Apr 15;182(8):4649-56.
8. IL-21R is essential for epicutaneous sensitization and allergic skin inflammation in humans and mice. Jin H, etal., J Clin Invest. 2009 Jan;119(1):47-60. doi: 10.1172/JCI32310. Epub 2008 Dec 15.
9. Upregulated IL-21 and IL-21 receptor expression is involved in experimental autoimmune uveitis (EAU). Liu L, etal., Mol Vis. 2009 Dec 31;15:2938-44.
10. IL-21 receptor expression determines the temporal phases of experimental autoimmune encephalomyelitis. Liu R, etal., Exp Neurol. 2008 May;211(1):14-24. Epub 2007 Nov 22.
11. Il-21 enhances NK cell activation and cytolytic activity and induces Th17 cell differentiation in inflammatory bowel disease. Liu Z, etal., Inflamm Bowel Dis. 2009 Aug;15(8):1133-44.
12. Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway. Nimmo ER, etal., Inflamm Bowel Dis. 2012 May;18(5):889-99. doi: 10.1002/ibd.21912. Epub 2011 Oct 21.
13. RGMA and IL21R show association with experimental inflammation and multiple sclerosis. Nohra R, etal., Genes Immun. 2010 Jun;11(4):279-93. Epub 2010 Jan 14.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Immune activation and increased IL-21R expression are associated with the loss of memory B cells during HIV-1 infection. Ruffin N, etal., J Intern Med. 2012 Apr 24. doi: 10.1111/j.1365-2796.2012.02550.x.
20. Screening of functional and positional candidate genes in families with common variable immunodeficiency. Salzer U, etal., BMC Immunol. 2008 Feb 7;9:3.
21. IL-21 and IL-21R are not required for development of Th17 cells and autoimmunity in vivo. Sonderegger I, etal., Eur J Immunol. 2008 Jul;38(7):1833-8.
22. IL-21 promotes the pathologic immune response to pneumovirus infection. Spolski R, etal., J Immunol. 2012 Feb 15;188(4):1924-32. Epub 2012 Jan 11.
23. Interleukin-21 is required for the development of type 1 diabetes in NOD mice. Sutherland AP, etal., Diabetes. 2009 May;58(5):1144-55. Epub 2009 Feb 10.
24. Interleukin-21 modulates Th1 and Th17 responses in giant cell arteritis. Terrier B, etal., Arthritis Rheum. 2012 Jun;64(6):2001-11. doi: 10.1002/art.34327. Epub 2011 Dec 6.
25. IL-21 and IL-21 receptor expression in lymphocytes and neurons in multiple sclerosis brain. Tzartos JS, etal., Am J Pathol. 2011 Feb;178(2):794-802.
26. The gene for interleukin-21 receptor is the partner of BCL6 in t(3;16)(q27;p11), which is recurrently observed in diffuse large B-cell lymphoma. Ueda C, etal., Oncogene. 2002 Jan 17;21(3):368-76.
27. In vitro potency, pharmacokinetic profiles, and pharmacological activity of optimized anti-IL-21R antibodies in a mouse model of lupus. Vugmeyster Y, etal., MAbs. 2010 May-Jun;2(3):335-46. Epub 2010 May 23.
28. Key role for IL-21 in experimental autoimmune uveitis. Wang L, etal., Proc Natl Acad Sci U S A. 2011 Jun 7;108(23):9542-7. Epub 2011 May 18.
29. A polymorphism within IL21R confers risk for systemic lupus erythematosus. Webb R, etal., Arthritis Rheum. 2009 Aug;60(8):2402-7.
Additional References at PubMed
PMID:7566098   PMID:11016959   PMID:11081504   PMID:11418623   PMID:12477932   PMID:12700598   PMID:12975309   PMID:15146416   PMID:15340161   PMID:15489334   PMID:15751077   PMID:16260592  
PMID:16344560   PMID:16391014   PMID:16867043   PMID:17015683   PMID:17032244   PMID:17462506   PMID:17624663   PMID:19230867   PMID:19617351   PMID:19851296   PMID:19874204   PMID:20059963  
PMID:20193734   PMID:20198315   PMID:20237496   PMID:21048031   PMID:21524651   PMID:21531891   PMID:21873635   PMID:22032620   PMID:22235133   PMID:23098230   PMID:23296193   PMID:23354321  
PMID:23396946   PMID:23440042   PMID:23817569   PMID:23830147   PMID:24728504   PMID:25007029   PMID:25398835   PMID:25500255   PMID:25647271   PMID:25941256   PMID:26705256   PMID:28057743  
PMID:28303891   PMID:30387833   PMID:30639626   PMID:30758075   PMID:30762338   PMID:31573051   PMID:31753913   PMID:32296183   PMID:33692795   PMID:33710028   PMID:33929673   PMID:36189580  
PMID:37107636   PMID:37243939   PMID:37713154   PMID:38720319   PMID:38723244  


Genomics

Comparative Map Data
IL21R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381627,402,174 - 27,452,042 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1627,402,174 - 27,452,042 (+)EnsemblGRCh38hg38GRCh38
GRCh371627,413,495 - 27,463,363 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361627,321,224 - 27,369,616 (+)NCBINCBI36Build 36hg18NCBI36
Build 341627,321,923 - 27,369,616NCBI
Celera1626,190,799 - 26,240,689 (+)NCBICelera
Cytogenetic Map16p12.1NCBI
HuRef1625,501,903 - 25,551,799 (+)NCBIHuRef
CHM1_11628,425,032 - 28,475,081 (+)NCBICHM1_1
T2T-CHM13v2.01627,680,921 - 27,730,794 (+)NCBIT2T-CHM13v2.0
Il21r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397125,202,424 - 125,232,742 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7125,202,601 - 125,232,742 (+)EnsemblGRCm39 Ensembl
GRCm387125,603,252 - 125,634,397 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7125,603,429 - 125,633,570 (+)EnsemblGRCm38mm10GRCm38
MGSCv377132,746,943 - 132,777,084 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367125,394,625 - 125,424,718 (+)NCBIMGSCv36mm8
Celera7125,462,065 - 125,492,498 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map768.98NCBI
Il21r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81189,598,682 - 189,626,340 (+)NCBIGRCr8
mRatBN7.21180,168,028 - 180,195,690 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1180,168,097 - 180,195,522 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1188,504,931 - 188,532,715 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01195,690,963 - 195,718,760 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01188,374,105 - 188,401,804 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01196,996,405 - 197,024,185 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1196,996,581 - 197,024,166 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01203,980,627 - 204,008,648 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41184,665,737 - 184,693,583 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11184,815,617 - 184,843,462 (+)NCBI
Celera1177,837,561 - 177,865,054 (+)NCBICelera
Cytogenetic Map1q36NCBI
Il21r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554935,613,564 - 5,650,583 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554935,613,704 - 5,646,692 (+)NCBIChiLan1.0ChiLan1.0
IL21R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21828,799,773 - 28,846,635 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11633,339,801 - 33,387,335 (+)NCBINHGRI_mPanPan1
PanPan1.11627,774,864 - 27,821,769 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1627,774,864 - 27,821,769 (+)Ensemblpanpan1.1panPan2
IL21R
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1619,181,846 - 19,217,915 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl619,182,071 - 19,217,931 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha620,760,615 - 20,796,374 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0619,321,734 - 19,357,467 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl619,321,718 - 19,357,757 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1619,119,564 - 19,155,747 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0619,033,216 - 19,068,970 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0619,379,434 - 19,415,204 (-)NCBIUU_Cfam_GSD_1.0
Il21r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344122,984,094 - 123,014,575 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650111,100,170 - 11,110,744 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650111,100,170 - 11,112,112 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL21R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl319,443,359 - 19,489,152 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1319,447,488 - 19,489,201 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2319,681,475 - 19,697,842 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IL21R
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1525,105,947 - 25,153,914 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl525,106,519 - 25,153,703 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660684,543,066 - 4,590,469 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Il21r
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478212,057,651 - 12,068,650 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478212,037,338 - 12,070,479 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IL21R
368 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_181078.3(IL21R):c.241_246del (p.Cys81_His82del) deletion Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000035023] Chr16:27437575..27437580 [GRCh38]
Chr16:27448896..27448901 [GRCh37]
Chr16:16p12.1		 pathogenic
IL21R, -83T-C single nucleotide variant Increased circulating IgE level [RCV000005327] Chr16:16p11 pathogenic
NM_181078.3(IL21R):c.152+10C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001494457] Chr16:27434459 [GRCh38]
Chr16:27445780 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1032C>T (p.Asp344=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000529625]|not provided [RCV004715292] Chr16:27448698 [GRCh38]
Chr16:27460019 [GRCh37]
Chr16:16p12.1		 benign
NM_181079.4(IL21R):c.51-13229A>G single nucleotide variant Lung cancer [RCV000099868] Chr16:27416827 [GRCh38]
Chr16:27428148 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.602G>T (p.Arg201Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000035024] Chr16:27444636 [GRCh38]
Chr16:27455957 [GRCh37]
Chr16:16p12.1		 pathogenic
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1		 pathogenic
GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3 copy number gain See cases [RCV000053861] Chr16:26966063..28234594 [GRCh38]
Chr16:26977384..28245915 [GRCh37]
Chr16:26884885..28153416 [NCBI36]
Chr16:16p12.1		 uncertain significance
NM_181079.4(IL21R):c.1006C>T (p.Leu336=) single nucleotide variant Malignant melanoma [RCV000071061] Chr16:27448606 [GRCh38]
Chr16:27459927 [GRCh37]
Chr16:27367428 [NCBI36]
Chr16:16p12.1		 not provided
NM_181079.4(IL21R):c.1599G>A (p.Gly533=) single nucleotide variant Malignant melanoma [RCV000071062] Chr16:27449199 [GRCh38]
Chr16:27460520 [GRCh37]
Chr16:27368021 [NCBI36]
Chr16:16p12.1		 not provided
NM_181079.4(IL21R):c.1600G>A (p.Asp534Asn) single nucleotide variant Malignant melanoma [RCV000071063] Chr16:27449200 [GRCh38]
Chr16:27460521 [GRCh37]
Chr16:27368022 [NCBI36]
Chr16:16p12.1		 not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_181078.3(IL21R):c.531A>G (p.Ser177=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000543011]|not provided [RCV001811066] Chr16:27444565 [GRCh38]
Chr16:27455886 [GRCh37]
Chr16:16p12.1		 benign
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001086911]|IgE responsiveness, atopic [RCV001280967]|Inborn genetic diseases [RCV000210638]|not provided [RCV000658743] Chr16:27448699 [GRCh38]
Chr16:27460020 [GRCh37]
Chr16:16p12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181078.3(IL21R):c.467A>G (p.Tyr156Cys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651170]|Inborn genetic diseases [RCV000210668]|not provided [RCV005001020] Chr16:27443076 [GRCh38]
Chr16:27454397 [GRCh37]
Chr16:16p12.1		 likely pathogenic|uncertain significance
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001082158]|IgE responsiveness, atopic [RCV003224239]|Inborn genetic diseases [RCV002518530]|not provided [RCV000531186]|not specified [RCV000239104] Chr16:27446045 [GRCh38]
Chr16:27457366 [GRCh37]
Chr16:16p12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181078.3(IL21R):c.1450G>A (p.Gly484Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000530270]|not provided [RCV004715293] Chr16:27449116 [GRCh38]
Chr16:27460437 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.1048A>G (p.Ser350Gly) single nucleotide variant not provided [RCV000521913] Chr16:27448714 [GRCh38]
Chr16:27460035 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.-17+566G>A single nucleotide variant Inborn genetic diseases [RCV003097819]|not provided [RCV002292919] Chr16:27403184 [GRCh38]
Chr16:27414505 [GRCh37]
Chr16:16p12.1		 uncertain significance
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_181078.3(IL21R):c.1442C>T (p.Pro481Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000554246] Chr16:27449108 [GRCh38]
Chr16:27460429 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p12.1(chr16:26457088-27431415)x3 copy number gain See cases [RCV000446796] Chr16:26457088..27431415 [GRCh37]
Chr16:16p12.1		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_181078.3(IL21R):c.137C>T (p.Thr46Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000542064]|IL21R-related disorder [RCV003925309]|not provided [RCV003311818]|not specified [RCV000455723] Chr16:27434434 [GRCh38]
Chr16:27445755 [GRCh37]
Chr16:16p12.1		 likely benign|uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3 copy number gain See cases [RCV000511134] Chr16:25900524..27489837 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_181078.3(IL21R):c.-17+563G>A single nucleotide variant IgE responsiveness, atopic [RCV000768236]|not provided [RCV001811477] Chr16:27403181 [GRCh38]
Chr16:27414502 [GRCh37]
Chr16:16p12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_181078.3(IL21R):c.660G>A (p.Pro220=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000559959] Chr16:27444694 [GRCh38]
Chr16:27456015 [GRCh37]
Chr16:16p12.1		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_181078.3(IL21R):c.360G>A (p.Pro120=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651180] Chr16:27442969 [GRCh38]
Chr16:27454290 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.954C>G (p.Ser318Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651179] Chr16:27448620 [GRCh38]
Chr16:27459941 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.1449C>T (p.Ala483=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651177] Chr16:27449115 [GRCh38]
Chr16:27460436 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1434G>A (p.Ala478=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651176] Chr16:27449100 [GRCh38]
Chr16:27460421 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1545C>G (p.Pro515=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651175]|IL21R-related disorder [RCV003928117]|not provided [RCV001811427] Chr16:27449211 [GRCh38]
Chr16:27460532 [GRCh37]
Chr16:16p12.1		 benign|likely benign
NM_181078.3(IL21R):c.1416G>A (p.Gly472=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001392653] Chr16:27449082 [GRCh38]
Chr16:27460403 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1467G>A (p.Thr489=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651173]|not provided [RCV001811426] Chr16:27449133 [GRCh38]
Chr16:27460454 [GRCh37]
Chr16:16p12.1		 benign|likely benign
NM_181078.3(IL21R):c.19G>A (p.Ala7Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651172] Chr16:27430090 [GRCh38]
Chr16:27441411 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1536C>T (p.Asp512=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651171] Chr16:27449202 [GRCh38]
Chr16:27460523 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.495C>A (p.Asp165Glu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651169]|Inborn genetic diseases [RCV003303073] Chr16:27443104 [GRCh38]
Chr16:27454425 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.839T>C (p.Leu280Pro) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651168] Chr16:27446060 [GRCh38]
Chr16:27457381 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.453G>A (p.Lys151=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651167] Chr16:27443062 [GRCh38]
Chr16:27454383 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.138G>A (p.Thr46=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000651181] Chr16:27434435 [GRCh38]
Chr16:27445756 [GRCh37]
Chr16:16p12.1		 likely benign
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_181078.3(IL21R):c.1225_1226delinsAC (p.Glu409Thr) indel Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000698658] Chr16:27448891..27448892 [GRCh38]
Chr16:27460212..27460213 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_181078.3(IL21R):c.1489T>C (p.Ser497Pro) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000699842] Chr16:27449155 [GRCh38]
Chr16:27460476 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.505G>A (p.Val169Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000704128] Chr16:27443114 [GRCh38]
Chr16:27454435 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.3_4delinsAA (p.Met1_Pro2delinsIleThr) indel Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000703327] Chr16:27430074..27430075 [GRCh38]
Chr16:27441395..27441396 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.962C>A (p.Pro321Gln) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000806532] Chr16:27448628 [GRCh38]
Chr16:27459949 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_181078.3(IL21R):c.1460T>G (p.Met487Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001043227] Chr16:27449126 [GRCh38]
Chr16:27460447 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_181078.3(IL21R):c.868-222G>A single nucleotide variant not provided [RCV001709289] Chr16:27448312 [GRCh38]
Chr16:27459633 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.582G>A (p.Ser194=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000902492] Chr16:27444616 [GRCh38]
Chr16:27455937 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.571C>T (p.Arg191Cys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000881026]|not provided [RCV003322834] Chr16:27444605 [GRCh38]
Chr16:27455926 [GRCh37]
Chr16:16p12.1		 likely benign|uncertain significance
NM_181078.3(IL21R):c.785+10G>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000983142] Chr16:27445286 [GRCh38]
Chr16:27456607 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.402T>C (p.Tyr134=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000925369] Chr16:27443011 [GRCh38]
Chr16:27454332 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.76T>C (p.Tyr26His) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001049271] Chr16:27434373 [GRCh38]
Chr16:27445694 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.515G>C (p.Arg172Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001062213] Chr16:27444549 [GRCh38]
Chr16:27455870 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.260A>G (p.His87Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001062331]|IL21R-related disorder [RCV003405277] Chr16:27437595 [GRCh38]
Chr16:27448916 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.482G>C (p.Arg161Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001051533] Chr16:27443091 [GRCh38]
Chr16:27454412 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.209C>T (p.Ser70Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001061479]|Inborn genetic diseases [RCV003363090]|not provided [RCV001531849] Chr16:27437544 [GRCh38]
Chr16:27448865 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.585C>G (p.Ser195Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001061495] Chr16:27444619 [GRCh38]
Chr16:27455940 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.1(chr16:27441393-27460604)x3 copy number gain not provided [RCV000996428] Chr16:27441393..27460604 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1021G>A (p.Val341Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001068700] Chr16:27448687 [GRCh38]
Chr16:27460008 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.257T>A (p.Phe86Tyr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001038574]|Inborn genetic diseases [RCV002551426] Chr16:27437592 [GRCh38]
Chr16:27448913 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.605C>T (p.Ala202Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000810143]|IgE responsiveness, atopic [RCV002487752]|Inborn genetic diseases [RCV004028690] Chr16:27444639 [GRCh38]
Chr16:27455960 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1040C>T (p.Pro347Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000808542] Chr16:27448706 [GRCh38]
Chr16:27460027 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.96G>A (p.Thr32=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000942740] Chr16:27434393 [GRCh38]
Chr16:27445714 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1374C>T (p.Asp458=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000983542] Chr16:27449040 [GRCh38]
Chr16:27460361 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.96G>C (p.Thr32=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000981627] Chr16:27434393 [GRCh38]
Chr16:27445714 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1113C>T (p.Tyr371=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000898851] Chr16:27448779 [GRCh38]
Chr16:27460100 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.18C>T (p.Ala6=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001457329] Chr16:27430089 [GRCh38]
Chr16:27441410 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.72C>T (p.Val24=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001468922] Chr16:27434369 [GRCh38]
Chr16:27445690 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.426C>T (p.Tyr142=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000967661]|not provided [RCV001702756] Chr16:27443035 [GRCh38]
Chr16:27454356 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.437C>G (p.Ala146Gly) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000813947] Chr16:27443046 [GRCh38]
Chr16:27454367 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1178G>T (p.Ser393Ile) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000793782] Chr16:27448844 [GRCh38]
Chr16:27460165 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.139C>T (p.Leu47Phe) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000819463] Chr16:27434436 [GRCh38]
Chr16:27445757 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.875T>C (p.Val292Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000801449] Chr16:27448541 [GRCh38]
Chr16:27459862 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1316G>C (p.Gly439Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000815581]|Inborn genetic diseases [RCV004028858] Chr16:27448982 [GRCh38]
Chr16:27460303 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1543C>A (p.Pro515Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000795878]|Inborn genetic diseases [RCV004027544] Chr16:27449209 [GRCh38]
Chr16:27460530 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.968G>A (p.Arg323Gln) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000799860]|Inborn genetic diseases [RCV004986610] Chr16:27448634 [GRCh38]
Chr16:27459955 [GRCh37]
Chr16:16p12.1		 likely benign|uncertain significance
NM_181078.3(IL21R):c.1544C>A (p.Pro515His) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000822438] Chr16:27449210 [GRCh38]
Chr16:27460531 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.602G>A (p.Arg201Gln) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000790536] Chr16:27444636 [GRCh38]
Chr16:27455957 [GRCh37]
Chr16:16p12.1		 pathogenic|uncertain significance
NM_181078.3(IL21R):c.910G>T (p.Gly304Ter) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001046227] Chr16:27448576 [GRCh38]
Chr16:27459897 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.823C>T (p.Arg275Trp) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000792080] Chr16:27446044 [GRCh38]
Chr16:27457365 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.1(chr16:27456568-27573237)x1 copy number loss not provided [RCV000847127] Chr16:27456568..27573237 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.598G>T (p.Val200Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000806902] Chr16:27444632 [GRCh38]
Chr16:27455953 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.823C>G (p.Arg275Gly) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000798759] Chr16:27446044 [GRCh38]
Chr16:27457365 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1191C>T (p.Asp397=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001416236] Chr16:27448857 [GRCh38]
Chr16:27460178 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1049G>A (p.Ser350Asn) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000818924] Chr16:27448715 [GRCh38]
Chr16:27460036 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.270C>T (p.Ala90=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001414925] Chr16:27437605 [GRCh38]
Chr16:27448926 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.833T>A (p.Met278Lys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000813372] Chr16:27446054 [GRCh38]
Chr16:27457375 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.615G>C (p.Met205Ile) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000800826]|not provided [RCV004693291] Chr16:27444649 [GRCh38]
Chr16:27455970 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1584G>A (p.Pro528=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000975826]|IL21R-related disorder [RCV003928603] Chr16:27449250 [GRCh38]
Chr16:27460571 [GRCh37]
Chr16:16p12.1		 benign|likely benign
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2		 not provided
NM_181078.3(IL21R):c.1321C>A (p.Pro441Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001234190] Chr16:27448987 [GRCh38]
Chr16:27460308 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1277T>C (p.Leu426Pro) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001220931] Chr16:27448943 [GRCh38]
Chr16:27460264 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.934T>C (p.Ser312Pro) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001218093] Chr16:27448600 [GRCh38]
Chr16:27459921 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1331G>A (p.Ser444Asn) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001223896] Chr16:27448997 [GRCh38]
Chr16:27460318 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.433C>T (p.Pro145Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001225177] Chr16:27443042 [GRCh38]
Chr16:27454363 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1121T>C (p.Val374Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001226371] Chr16:27448787 [GRCh38]
Chr16:27460108 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1064C>A (p.Ala355Asp) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001238424] Chr16:27448730 [GRCh38]
Chr16:27460051 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1402C>T (p.Arg468Trp) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001210657]|Inborn genetic diseases [RCV004033799] Chr16:27449068 [GRCh38]
Chr16:27460389 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.800T>C (p.Ile267Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001212028] Chr16:27446021 [GRCh38]
Chr16:27457342 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1316G>A (p.Gly439Glu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001229373] Chr16:27448982 [GRCh38]
Chr16:27460303 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.50-308G>C single nucleotide variant not provided [RCV001641439] Chr16:27434039 [GRCh38]
Chr16:27445360 [GRCh37]
Chr16:16p12.1		 benign
NC_000016.9:g.(?_27441393)_(28899063_?)del deletion not provided [RCV003105580] Chr16:27441393..28899063 [GRCh37]
Chr16:16p12.1-11.2		 uncertain significance
NM_181078.3(IL21R):c.786-170T>G single nucleotide variant not provided [RCV001657459] Chr16:27445837 [GRCh38]
Chr16:27457158 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.*293G>A single nucleotide variant not provided [RCV001694867] Chr16:27449576 [GRCh38]
Chr16:27460897 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.609G>A (p.Gly203=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001504206] Chr16:27444643 [GRCh38]
Chr16:27455964 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.415C>T (p.Arg139Cys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000908000] Chr16:27443024 [GRCh38]
Chr16:27454345 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.339C>T (p.Leu113=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000897745]|not provided [RCV004705891] Chr16:27437674 [GRCh38]
Chr16:27448995 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.39G>A (p.Leu13=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000938795] Chr16:27430110 [GRCh38]
Chr16:27441431 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.957C>T (p.Cys319=) single nucleotide variant not provided [RCV000932276] Chr16:27448623 [GRCh38]
Chr16:27459944 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.-16-94A>G single nucleotide variant not provided [RCV001643734]|not specified [RCV003487577] Chr16:27429962 [GRCh38]
Chr16:27441283 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.1050C>A (p.Ser350Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001219174]|Inborn genetic diseases [RCV004986960] Chr16:27448716 [GRCh38]
Chr16:27460037 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.481A>G (p.Arg161Gly) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001219844] Chr16:27443090 [GRCh38]
Chr16:27454411 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.512C>T (p.Pro171Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001227554]|Inborn genetic diseases [RCV002563686] Chr16:27444546 [GRCh38]
Chr16:27455867 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1584G>C (p.Pro528=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000935951] Chr16:27449250 [GRCh38]
Chr16:27460571 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.273C>T (p.Asp91=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003574813] Chr16:27437608 [GRCh38]
Chr16:27448929 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.90C>T (p.Leu30=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV000936064] Chr16:27434387 [GRCh38]
Chr16:27445708 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.353-192T>C single nucleotide variant not provided [RCV001676731] Chr16:27442770 [GRCh38]
Chr16:27454091 [GRCh37]
Chr16:16p12.1		 benign
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_181078.3(IL21R):c.-17+439T>G single nucleotide variant not provided [RCV001619086]|not specified [RCV003394173] Chr16:27403057 [GRCh38]
Chr16:27414378 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.867+109C>G single nucleotide variant not provided [RCV001661052] Chr16:27446197 [GRCh38]
Chr16:27457518 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.507+246T>C single nucleotide variant not provided [RCV001619735] Chr16:27443362 [GRCh38]
Chr16:27454683 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.152+284C>T single nucleotide variant not provided [RCV001596346] Chr16:27434733 [GRCh38]
Chr16:27446054 [GRCh37]
Chr16:16p12.1		 benign
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_181078.3(IL21R):c.8G>A (p.Arg3His) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001047003] Chr16:27430079 [GRCh38]
Chr16:27441400 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.352+51C>T single nucleotide variant not provided [RCV001666935] Chr16:27437738 [GRCh38]
Chr16:27449059 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.1562G>A (p.Arg521His) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001047529] Chr16:27449228 [GRCh38]
Chr16:27460549 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1034G>A (p.Gly345Asp) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001036344]|Inborn genetic diseases [RCV002552460] Chr16:27448700 [GRCh38]
Chr16:27460021 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.-17+400T>C single nucleotide variant Increased circulating IgE concentration [RCV001836653]|not provided [RCV001649525] Chr16:27403018 [GRCh38]
Chr16:27414339 [GRCh37]
Chr16:16p12.1		 pathogenic|benign
NM_181078.3(IL21R):c.386C>T (p.Thr129Ile) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001045956] Chr16:27442995 [GRCh38]
Chr16:27454316 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1583C>T (p.Pro528Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001235887] Chr16:27449249 [GRCh38]
Chr16:27460570 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.352+1G>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001789788] Chr16:27437688 [GRCh38]
Chr16:27449009 [GRCh37]
Chr16:16p12.1		 likely pathogenic
NM_181078.3(IL21R):c.1071C>A (p.Asn357Lys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001212730] Chr16:27448737 [GRCh38]
Chr16:27460058 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1013C>T (p.Ala338Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001047496] Chr16:27448679 [GRCh38]
Chr16:27460000 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.70G>T (p.Val24Phe) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001202229]|Inborn genetic diseases [RCV003259144] Chr16:27434367 [GRCh38]
Chr16:27445688 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1537G>A (p.Glu513Lys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001235067] Chr16:27449203 [GRCh38]
Chr16:27460524 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.937A>G (p.Thr313Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001064077] Chr16:27448603 [GRCh38]
Chr16:27459924 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1550G>A (p.Arg517Gln) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001064598]|IgE responsiveness, atopic [RCV002489687] Chr16:27449216 [GRCh38]
Chr16:27460537 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.545G>A (p.Ser182Asn) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001037259] Chr16:27444579 [GRCh38]
Chr16:27455900 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.64G>A (p.Asp22Asn) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001215321]|Inborn genetic diseases [RCV002561862] Chr16:27434361 [GRCh38]
Chr16:27445682 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.181G>A (p.Glu61Lys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001248585] Chr16:27437516 [GRCh38]
Chr16:27448837 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1544C>T (p.Pro515Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001229361] Chr16:27449210 [GRCh38]
Chr16:27460531 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1474A>G (p.Ser492Gly) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001233164] Chr16:27449140 [GRCh38]
Chr16:27460461 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.976G>A (p.Ala326Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001052558] Chr16:27448642 [GRCh38]
Chr16:27459963 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.572G>A (p.Arg191His) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001063403]|not provided [RCV001759826] Chr16:27444606 [GRCh38]
Chr16:27455927 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_181078.3(IL21R):c.563del (p.Leu188fs) deletion Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome [RCV001253460]|Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001262479] Chr16:27444597 [GRCh38]
Chr16:27455918 [GRCh37]
Chr16:16p12.1		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 16p12.1(chr16:27277775-27814900)x3 copy number gain not provided [RCV001258624] Chr16:27277775..27814900 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1286G>C (p.Gly429Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001335106] Chr16:27448952 [GRCh38]
Chr16:27460273 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_181078.3(IL21R):c.659C>T (p.Pro220Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001267765] Chr16:27444693 [GRCh38]
Chr16:27456014 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.-17+585C>T single nucleotide variant not provided [RCV001813002] Chr16:27403203 [GRCh38]
Chr16:27414524 [GRCh37]
Chr16:16p12.1		 likely benign
GRCh37/hg19 16p12.1(chr16:26457597-27420153)x3 copy number gain not provided [RCV001258625] Chr16:26457597..27420153 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.790T>C (p.Trp264Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001327883] Chr16:27446011 [GRCh38]
Chr16:27457332 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.191C>T (p.Ser64Phe) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001308357] Chr16:27437526 [GRCh38]
Chr16:27448847 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.508-30_508-20del deletion Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003574875]|not provided [RCV001810653] Chr16:27444512..27444522 [GRCh38]
Chr16:27455833..27455843 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.977C>T (p.Ala326Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001319650] Chr16:27448643 [GRCh38]
Chr16:27459964 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1057C>T (p.Pro353Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001318063] Chr16:27448723 [GRCh38]
Chr16:27460044 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.770C>T (p.Thr257Ile) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001339529] Chr16:27445261 [GRCh38]
Chr16:27456582 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.457A>G (p.Lys153Glu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001340415] Chr16:27443066 [GRCh38]
Chr16:27454387 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1243G>C (p.Glu415Gln) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001342210] Chr16:27448909 [GRCh38]
Chr16:27460230 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.508-7_508-6delinsAC indel Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001301885] Chr16:27444535..27444536 [GRCh38]
Chr16:27455856..27455857 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1351C>T (p.Pro451Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001349433] Chr16:27449017 [GRCh38]
Chr16:27460338 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1364A>T (p.Asp455Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001341356] Chr16:27449030 [GRCh38]
Chr16:27460351 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1548C>A (p.Pro516=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001392799] Chr16:27449214 [GRCh38]
Chr16:27460535 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.17C>T (p.Ala6Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001327860] Chr16:27430088 [GRCh38]
Chr16:27441409 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.20C>G (p.Ala7Gly) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001308013]|Inborn genetic diseases [RCV004034153] Chr16:27430091 [GRCh38]
Chr16:27441412 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.972C>A (p.Ser324Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001361328] Chr16:27448638 [GRCh38]
Chr16:27459959 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1143G>C (p.Val381=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001422774] Chr16:27448809 [GRCh38]
Chr16:27460130 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1058C>T (p.Pro353Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001359987] Chr16:27448724 [GRCh38]
Chr16:27460045 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.775C>T (p.Pro259Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001360938] Chr16:27445266 [GRCh38]
Chr16:27456587 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.149C>G (p.Thr50Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001298163] Chr16:27434446 [GRCh38]
Chr16:27445767 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.598G>A (p.Val200Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001298914] Chr16:27444632 [GRCh38]
Chr16:27455953 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1178G>C (p.Ser393Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001295854] Chr16:27448844 [GRCh38]
Chr16:27460165 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.95C>T (p.Thr32Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001371796]|not provided [RCV003405622] Chr16:27434392 [GRCh38]
Chr16:27445713 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1236A>C (p.Pro412=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001394983] Chr16:27448902 [GRCh38]
Chr16:27460223 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1412G>C (p.Gly471Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001326106]|Inborn genetic diseases [RCV004629570] Chr16:27449078 [GRCh38]
Chr16:27460399 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.152+7_152+23del deletion Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001413096] Chr16:27434453..27434469 [GRCh38]
Chr16:27445774..27445790 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1017G>A (p.Glu339=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001486815] Chr16:27448683 [GRCh38]
Chr16:27460004 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1419C>T (p.Val473=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001483953]|IL21R-related disorder [RCV003931003] Chr16:27449085 [GRCh38]
Chr16:27460406 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.69C>T (p.Leu23=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001504157] Chr16:27434366 [GRCh38]
Chr16:27445687 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.24C>T (p.Pro8=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001425428] Chr16:27430095 [GRCh38]
Chr16:27441416 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.63C>T (p.Pro21=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001431457] Chr16:27434360 [GRCh38]
Chr16:27445681 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.357G>A (p.Lys119=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001491899] Chr16:27442966 [GRCh38]
Chr16:27454287 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.855C>T (p.Ser285=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001444967] Chr16:27446076 [GRCh38]
Chr16:27457397 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.353-9T>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001445136] Chr16:27442953 [GRCh38]
Chr16:27454274 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.513G>A (p.Pro171=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001467757] Chr16:27444547 [GRCh38]
Chr16:27455868 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1557C>T (p.Tyr519=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001482448] Chr16:27449223 [GRCh38]
Chr16:27460544 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.507+125A>G single nucleotide variant not provided [RCV001684389]|not specified [RCV003401606] Chr16:27443241 [GRCh38]
Chr16:27454562 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.1275C>G (p.Val425=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001473720] Chr16:27448941 [GRCh38]
Chr16:27460262 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.753C>T (p.Ala251=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001460581] Chr16:27445244 [GRCh38]
Chr16:27456565 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.867+9C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001464444] Chr16:27446097 [GRCh38]
Chr16:27457418 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.516G>A (p.Arg172=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001475854] Chr16:27444550 [GRCh38]
Chr16:27455871 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1479C>T (p.Gly493=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001500207] Chr16:27449145 [GRCh38]
Chr16:27460466 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1527C>T (p.Ser509=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001514120] Chr16:27449193 [GRCh38]
Chr16:27460514 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.153-19G>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001519496] Chr16:27437469 [GRCh38]
Chr16:27448790 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.1266G>C (p.Gly422=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001478603] Chr16:27448932 [GRCh38]
Chr16:27460253 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1593G>A (p.Ser531=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001452253] Chr16:27449259 [GRCh38]
Chr16:27460580 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.785+16G>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001522416]|not provided [RCV001655786]|not specified [RCV003399317] Chr16:27445292 [GRCh38]
Chr16:27456613 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.686-17C>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003107079] Chr16:27445160 [GRCh38]
Chr16:27456481 [GRCh37]
Chr16:16p12.1		 likely benign
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_181078.3(IL21R):c.107T>A (p.Ile36Asn) single nucleotide variant Inborn genetic diseases [RCV004988738]|not provided [RCV001757541] Chr16:27434404 [GRCh38]
Chr16:27445725 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.842dup (p.Tyr281Ter) duplication Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001805747] Chr16:27446062..27446063 [GRCh38]
Chr16:27457383..27457384 [GRCh37]
Chr16:16p12.1		 pathogenic
NM_181078.3(IL21R):c.611C>T (p.Pro204Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002001708] Chr16:27444645 [GRCh38]
Chr16:27455966 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.607G>A (p.Gly203Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001864515] Chr16:27444641 [GRCh38]
Chr16:27455962 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.381T>C (p.Thr127=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001949347] Chr16:27442990 [GRCh38]
Chr16:27454311 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1105C>T (p.Arg369Trp) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002004057]|Inborn genetic diseases [RCV004982838] Chr16:27448771 [GRCh38]
Chr16:27460092 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.734T>C (p.Val245Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001945870] Chr16:27445225 [GRCh38]
Chr16:27456546 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.314A>C (p.Tyr105Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002002703] Chr16:27437649 [GRCh38]
Chr16:27448970 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.7C>T (p.Arg3Cys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001928124] Chr16:27430078 [GRCh38]
Chr16:27441399 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1124C>T (p.Ser375Phe) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001911949] Chr16:27448790 [GRCh38]
Chr16:27460111 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1610C>T (p.Ala537Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002021883] Chr16:27449276 [GRCh38]
Chr16:27460597 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.785+19G>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001913360] Chr16:27445295 [GRCh38]
Chr16:27456616 [GRCh37]
Chr16:16p12.1		 likely benign|uncertain significance
NM_181078.3(IL21R):c.833T>G (p.Met278Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001984989] Chr16:27446054 [GRCh38]
Chr16:27457375 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.67C>T (p.Leu23Phe) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001919047] Chr16:27434364 [GRCh38]
Chr16:27445685 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1192G>A (p.Gly398Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001962419] Chr16:27448858 [GRCh38]
Chr16:27460179 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.224C>T (p.Thr75Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001931124] Chr16:27437559 [GRCh38]
Chr16:27448880 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.128A>C (p.His43Pro) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001997254] Chr16:27434425 [GRCh38]
Chr16:27445746 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1415G>C (p.Gly472Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002027347] Chr16:27449081 [GRCh38]
Chr16:27460402 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.980A>C (p.Lys327Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001878237] Chr16:27448646 [GRCh38]
Chr16:27459967 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.48A>G (p.Gly16=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001961702] Chr16:27430119 [GRCh38]
Chr16:27441440 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.942G>A (p.Leu314=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001992210]|IL21R-related disorder [RCV003893061] Chr16:27448608 [GRCh38]
Chr16:27459929 [GRCh37]
Chr16:16p12.1		 likely benign|uncertain significance
NM_181078.3(IL21R):c.542G>C (p.Arg181Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001900496]|Inborn genetic diseases [RCV002552122] Chr16:27444576 [GRCh38]
Chr16:27455897 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.581C>T (p.Ser194Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001975872]|Inborn genetic diseases [RCV004989010] Chr16:27444615 [GRCh38]
Chr16:27455936 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.995C>T (p.Thr332Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001974441]|IgE responsiveness, atopic [RCV003224603]|Inborn genetic diseases [RCV004042382] Chr16:27448661 [GRCh38]
Chr16:27459982 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1487G>T (p.Gly496Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001977109] Chr16:27449153 [GRCh38]
Chr16:27460474 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1403G>A (p.Arg468Gln) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001876848] Chr16:27449069 [GRCh38]
Chr16:27460390 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1003C>A (p.Gln335Lys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002011159] Chr16:27448669 [GRCh38]
Chr16:27459990 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1028C>G (p.Ser343Cys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001978323] Chr16:27448694 [GRCh38]
Chr16:27460015 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.685+4G>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001879605] Chr16:27444723 [GRCh38]
Chr16:27456044 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1321C>T (p.Pro441Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001875614] Chr16:27448987 [GRCh38]
Chr16:27460308 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.715C>A (p.Leu239Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002035567] Chr16:27445206 [GRCh38]
Chr16:27456527 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.117G>A (p.Met39Ile) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001879256] Chr16:27434414 [GRCh38]
Chr16:27445735 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1189G>T (p.Asp397Tyr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001998486] Chr16:27448855 [GRCh38]
Chr16:27460176 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.865A>C (p.Lys289Gln) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002047411] Chr16:27446086 [GRCh38]
Chr16:27457407 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.27G>T (p.Leu9Phe) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001883082] Chr16:27430098 [GRCh38]
Chr16:27441419 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1360G>A (p.Ala454Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002046427]|Inborn genetic diseases [RCV004982866] Chr16:27449026 [GRCh38]
Chr16:27460347 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1073C>T (p.Ser358Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001924378]|Inborn genetic diseases [RCV004988937] Chr16:27448739 [GRCh38]
Chr16:27460060 [GRCh37]
Chr16:16p12.1		 likely benign|uncertain significance
NM_181078.3(IL21R):c.334T>C (p.Phe112Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001977618] Chr16:27437669 [GRCh38]
Chr16:27448990 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.487C>T (p.Arg163Trp) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002046527] Chr16:27443096 [GRCh38]
Chr16:27454417 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.835C>T (p.Pro279Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002013776]|Inborn genetic diseases [RCV003375556] Chr16:27446056 [GRCh38]
Chr16:27457377 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.974C>T (p.Pro325Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV001974410] Chr16:27448640 [GRCh38]
Chr16:27459961 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1563C>T (p.Arg521=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002124816] Chr16:27449229 [GRCh38]
Chr16:27460550 [GRCh37]
Chr16:16p12.1		 benign
NM_181078.3(IL21R):c.441C>G (p.Phe147Leu) single nucleotide variant not provided [RCV002224658] Chr16:27443050 [GRCh38]
Chr16:27454371 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.786-9C>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002071334] Chr16:27445998 [GRCh38]
Chr16:27457319 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.348G>A (p.Glu116=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002188222] Chr16:27437683 [GRCh38]
Chr16:27449004 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1512G>A (p.Glu504=) single nucleotide variant not provided [RCV002211346] Chr16:27449178 [GRCh38]
Chr16:27460499 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.909G>A (p.Leu303=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002107972]|IL21R-related disorder [RCV003923607] Chr16:27448575 [GRCh38]
Chr16:27459896 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.867+11G>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002091548] Chr16:27446099 [GRCh38]
Chr16:27457420 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.152+10C>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002216135] Chr16:27434459 [GRCh38]
Chr16:27445780 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.978C>G (p.Ala326=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002215332] Chr16:27448644 [GRCh38]
Chr16:27459965 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.975G>A (p.Pro325=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002096293] Chr16:27448641 [GRCh38]
Chr16:27459962 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.786-16C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002152630] Chr16:27445991 [GRCh38]
Chr16:27457312 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.786-5C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002078422] Chr16:27446002 [GRCh38]
Chr16:27457323 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.81C>T (p.Thr27=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002172764] Chr16:27434378 [GRCh38]
Chr16:27445699 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.153-20C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002113882] Chr16:27437468 [GRCh38]
Chr16:27448789 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1236A>T (p.Pro412=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002214621] Chr16:27448902 [GRCh38]
Chr16:27460223 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.126C>T (p.Leu42=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002089481] Chr16:27434423 [GRCh38]
Chr16:27445744 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.352+16C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002109549]|not provided [RCV004704750] Chr16:27437703 [GRCh38]
Chr16:27449024 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.152+11G>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002170553] Chr16:27434460 [GRCh38]
Chr16:27445781 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1433C>T (p.Ala478Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002129533] Chr16:27449099 [GRCh38]
Chr16:27460420 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.213C>T (p.Ala71=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002097039]|IL21R-related disorder [RCV003923426] Chr16:27437548 [GRCh38]
Chr16:27448869 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.786-14C>G single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002176359] Chr16:27445993 [GRCh38]
Chr16:27457314 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.152+11G>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002162273] Chr16:27434460 [GRCh38]
Chr16:27445781 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.946del (p.Val316fs) deletion Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002251177] Chr16:27448611 [GRCh38]
Chr16:27459932 [GRCh37]
Chr16:16p12.1		 likely pathogenic
NM_181078.3(IL21R):c.252T>C (p.Asp84=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002159065] Chr16:27437587 [GRCh38]
Chr16:27448908 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1059G>A (p.Pro353=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002220373] Chr16:27448725 [GRCh38]
Chr16:27460046 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.555C>T (p.Leu185=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002220780] Chr16:27444589 [GRCh38]
Chr16:27455910 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.807C>T (p.Ala269=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002102873] Chr16:27446028 [GRCh38]
Chr16:27457349 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.50-16C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002103548]|not provided [RCV004706335] Chr16:27434331 [GRCh38]
Chr16:27445652 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.144C>T (p.Thr48=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002175714] Chr16:27434441 [GRCh38]
Chr16:27445762 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.723C>T (p.Leu241=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002184500] Chr16:27445214 [GRCh38]
Chr16:27456535 [GRCh37]
Chr16:16p12.1		 likely benign
NC_000016.9:g.(?_27441393)_(29001333_?)del deletion Neuronal ceroid lipofuscinosis [RCV003122400] Chr16:27441393..29001333 [GRCh37]
Chr16:16p12.1-11.2		 pathogenic
NM_181078.3(IL21R):c.1547C>G (p.Pro516Arg) single nucleotide variant not provided [RCV002261528] Chr16:27449213 [GRCh38]
Chr16:27460534 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.271G>A (p.Asp91Asn) single nucleotide variant Inborn genetic diseases [RCV003300142] Chr16:27437606 [GRCh38]
Chr16:27448927 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_181078.3(IL21R):c.1363G>C (p.Asp455His) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002298973] Chr16:27449029 [GRCh38]
Chr16:27460350 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1080C>T (p.Gly360=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002861282] Chr16:27448746 [GRCh38]
Chr16:27460067 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1156G>A (p.Gly386Arg) single nucleotide variant Inborn genetic diseases [RCV002754820] Chr16:27448822 [GRCh38]
Chr16:27460143 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1463A>G (p.Asp488Gly) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002751085] Chr16:27449129 [GRCh38]
Chr16:27460450 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.561C>G (p.Pro187=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002858683] Chr16:27444595 [GRCh38]
Chr16:27455916 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.49+16G>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003073827] Chr16:27430136 [GRCh38]
Chr16:27441457 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.49+15C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003076972] Chr16:27430135 [GRCh38]
Chr16:27441456 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.70G>A (p.Val24Ile) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003074402] Chr16:27434367 [GRCh38]
Chr16:27445688 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.353-4C>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002866140] Chr16:27442958 [GRCh38]
Chr16:27454279 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.557T>C (p.Leu186Pro) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003076101] Chr16:27444591 [GRCh38]
Chr16:27455912 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.143C>A (p.Thr48Asn) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003017216] Chr16:27434440 [GRCh38]
Chr16:27445761 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.359C>T (p.Pro120Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002975674] Chr16:27442968 [GRCh38]
Chr16:27454289 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1330A>G (p.Ser444Gly) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003016328] Chr16:27448996 [GRCh38]
Chr16:27460317 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.714G>A (p.Leu238=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002881020] Chr16:27445205 [GRCh38]
Chr16:27456526 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1511A>C (p.Glu504Ala) single nucleotide variant Inborn genetic diseases [RCV002778203] Chr16:27449177 [GRCh38]
Chr16:27460498 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.785+19G>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002863556] Chr16:27445295 [GRCh38]
Chr16:27456616 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1001T>C (p.Leu334Pro) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002824386] Chr16:27448667 [GRCh38]
Chr16:27459988 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.947T>C (p.Val316Ala) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003080987] Chr16:27448613 [GRCh38]
Chr16:27459934 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.353-18C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002889911] Chr16:27442944 [GRCh38]
Chr16:27454265 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.558C>T (p.Leu186=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003038075] Chr16:27444592 [GRCh38]
Chr16:27455913 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1173C>T (p.Pro391=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002846532] Chr16:27448839 [GRCh38]
Chr16:27460160 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.788T>G (p.Leu263Arg) single nucleotide variant Inborn genetic diseases [RCV002911701] Chr16:27446009 [GRCh38]
Chr16:27457330 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1074G>A (p.Ser358=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002913756] Chr16:27448740 [GRCh38]
Chr16:27460061 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1076G>T (p.Gly359Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002923572] Chr16:27448742 [GRCh38]
Chr16:27460063 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.933C>T (p.Pro311=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002795189] Chr16:27448599 [GRCh38]
Chr16:27459920 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.180C>T (p.Asp60=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003078608] Chr16:27437515 [GRCh38]
Chr16:27448836 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1592C>T (p.Ser531Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003080699] Chr16:27449258 [GRCh38]
Chr16:27460579 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.553C>T (p.Leu185Phe) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003055294] Chr16:27444587 [GRCh38]
Chr16:27455908 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.617C>A (p.Pro206His) single nucleotide variant Inborn genetic diseases [RCV002886768] Chr16:27444651 [GRCh38]
Chr16:27455972 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1605C>G (p.Pro535=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003053657] Chr16:27449271 [GRCh38]
Chr16:27460592 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.985C>G (p.Leu329Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003053505] Chr16:27448651 [GRCh38]
Chr16:27459972 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1462G>A (p.Asp488Asn) single nucleotide variant Inborn genetic diseases [RCV002850331] Chr16:27449128 [GRCh38]
Chr16:27460449 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.983G>A (p.Arg328Lys) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003040628] Chr16:27448649 [GRCh38]
Chr16:27459970 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1052T>C (p.Phe351Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002644444]|Inborn genetic diseases [RCV002629775] Chr16:27448718 [GRCh38]
Chr16:27460039 [GRCh37]
Chr16:16p12.1		 likely benign|uncertain significance
NM_181078.3(IL21R):c.835C>A (p.Pro279Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003057844] Chr16:27446056 [GRCh38]
Chr16:27457377 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.27dup (p.Leu10fs) duplication Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003041893] Chr16:27430097..27430098 [GRCh38]
Chr16:27441418..27441419 [GRCh37]
Chr16:16p12.1		 pathogenic
NM_181078.3(IL21R):c.1075G>A (p.Gly359Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002597127]|not provided [RCV003409882] Chr16:27448741 [GRCh38]
Chr16:27460062 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.970A>G (p.Ser324Gly) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003023778] Chr16:27448636 [GRCh38]
Chr16:27459957 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.786-25_786-19del deletion Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003082007] Chr16:27445982..27445988 [GRCh38]
Chr16:27457303..27457309 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.685+15G>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002627044] Chr16:27444734 [GRCh38]
Chr16:27456055 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.468T>A (p.Tyr156Ter) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002919106] Chr16:27443077 [GRCh38]
Chr16:27454398 [GRCh37]
Chr16:16p12.1		 pathogenic
NM_181078.3(IL21R):c.50-16C>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002800634] Chr16:27434331 [GRCh38]
Chr16:27445652 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.601C>T (p.Arg201Trp) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002575855] Chr16:27444635 [GRCh38]
Chr16:27455956 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.787C>A (p.Leu263Ile) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003027451] Chr16:27446008 [GRCh38]
Chr16:27457329 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.50-4C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002810289] Chr16:27434343 [GRCh38]
Chr16:27445664 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.10G>A (p.Gly4Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003048605] Chr16:27430081 [GRCh38]
Chr16:27441402 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1326G>A (p.Leu442=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003028778] Chr16:27448992 [GRCh38]
Chr16:27460313 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.376G>A (p.Val126Met) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002628260] Chr16:27442985 [GRCh38]
Chr16:27454306 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1286G>T (p.Gly429Val) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002811956] Chr16:27448952 [GRCh38]
Chr16:27460273 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.121A>G (p.Asn41Asp) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003026742] Chr16:27434418 [GRCh38]
Chr16:27445739 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.741C>G (p.Val247=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002938108] Chr16:27445232 [GRCh38]
Chr16:27456553 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1581T>C (p.Pro527=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002585645] Chr16:27449247 [GRCh38]
Chr16:27460568 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.688T>C (p.Leu230=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002609269] Chr16:27445179 [GRCh38]
Chr16:27456500 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.686-2A>G single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002585932] Chr16:27445175 [GRCh38]
Chr16:27456496 [GRCh37]
Chr16:16p12.1		 likely pathogenic
NM_181078.3(IL21R):c.141C>A (p.Leu47=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002606815] Chr16:27434438 [GRCh38]
Chr16:27445759 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1212G>A (p.Leu404=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002606816] Chr16:27448878 [GRCh38]
Chr16:27460199 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.433C>A (p.Pro145Thr) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003092224] Chr16:27443042 [GRCh38]
Chr16:27454363 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.561C>T (p.Pro187=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003069712] Chr16:27444595 [GRCh38]
Chr16:27455916 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.903G>T (p.Leu301=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002605663] Chr16:27448569 [GRCh38]
Chr16:27459890 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1155G>A (p.Glu385=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002610088] Chr16:27448821 [GRCh38]
Chr16:27460142 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.210G>A (p.Ser70=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV002588088] Chr16:27437545 [GRCh38]
Chr16:27448866 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1102G>A (p.Asp368Asn) single nucleotide variant Inborn genetic diseases [RCV003299964] Chr16:27448768 [GRCh38]
Chr16:27460089 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.851G>A (p.Cys284Tyr) single nucleotide variant Inborn genetic diseases [RCV003206513] Chr16:27446072 [GRCh38]
Chr16:27457393 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1412G>A (p.Gly471Glu) single nucleotide variant Inborn genetic diseases [RCV003217988] Chr16:27449078 [GRCh38]
Chr16:27460399 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1494C>A (p.Asp498Glu) single nucleotide variant Inborn genetic diseases [RCV003385444] Chr16:27449160 [GRCh38]
Chr16:27460481 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1225G>A (p.Glu409Lys) single nucleotide variant Inborn genetic diseases [RCV003350333] Chr16:27448891 [GRCh38]
Chr16:27460212 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1166C>T (p.Thr389Ile) single nucleotide variant not provided [RCV003480172] Chr16:27448832 [GRCh38]
Chr16:27460153 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.82G>A (p.Asp28Asn) single nucleotide variant not provided [RCV003426641] Chr16:27434379 [GRCh38]
Chr16:27445700 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1072T>G (p.Ser358Ala) single nucleotide variant IL21R-related disorder [RCV003410640] Chr16:27448738 [GRCh38]
Chr16:27460059 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.680C>T (p.Ser227Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003739937] Chr16:27444714 [GRCh38]
Chr16:27456035 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.786-6C>G single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003573577] Chr16:27446001 [GRCh38]
Chr16:27457322 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.62C>T (p.Pro21Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003576140] Chr16:27434359 [GRCh38]
Chr16:27445680 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.352+9C>G single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003576149] Chr16:27437696 [GRCh38]
Chr16:27449017 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.978C>A (p.Ala326=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003576153] Chr16:27448644 [GRCh38]
Chr16:27459965 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.465G>A (p.Gln155=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003575169] Chr16:27443074 [GRCh38]
Chr16:27454395 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.867+16T>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003575836] Chr16:27446104 [GRCh38]
Chr16:27457425 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.352+18C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003574177] Chr16:27437705 [GRCh38]
Chr16:27449026 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1431G>A (p.Glu477=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003577844] Chr16:27449097 [GRCh38]
Chr16:27460418 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.798G>A (p.Lys266=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003577872] Chr16:27446019 [GRCh38]
Chr16:27457340 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.996G>A (p.Thr332=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003576142] Chr16:27448662 [GRCh38]
Chr16:27459983 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1030G>C (p.Asp344His) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003576152] Chr16:27448696 [GRCh38]
Chr16:27460017 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1602A>T (p.Gly534=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003580651] Chr16:27449268 [GRCh38]
Chr16:27460589 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.786-18C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003579982] Chr16:27445989 [GRCh38]
Chr16:27457310 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.786-8C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003839147] Chr16:27445999 [GRCh38]
Chr16:27457320 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.225G>A (p.Thr75=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003579823] Chr16:27437560 [GRCh38]
Chr16:27448881 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.776del (p.Pro259fs) deletion Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735323] Chr16:27445266 [GRCh38]
Chr16:27456587 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1325T>G (p.Leu442Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003738497] Chr16:27448991 [GRCh38]
Chr16:27460312 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1107G>A (p.Arg369=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003821205] Chr16:27448773 [GRCh38]
Chr16:27460094 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.786-5C>A single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735953] Chr16:27446002 [GRCh38]
Chr16:27457323 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1387C>T (p.Leu463=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003738503] Chr16:27449053 [GRCh38]
Chr16:27460374 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.853A>C (p.Ser285Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003738505] Chr16:27446074 [GRCh38]
Chr16:27457395 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.867+10C>T single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003872267] Chr16:27446098 [GRCh38]
Chr16:27457419 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.152+18_152+19del deletion Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735102] Chr16:27434466..27434467 [GRCh38]
Chr16:27445787..27445788 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.152+20C>G single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735103] Chr16:27434469 [GRCh38]
Chr16:27445790 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1590T>G (p.Leu530=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735173] Chr16:27449256 [GRCh38]
Chr16:27460577 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1528C>T (p.Pro510Ser) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735195] Chr16:27449194 [GRCh38]
Chr16:27460515 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.375C>T (p.Asn125=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003871501] Chr16:27442984 [GRCh38]
Chr16:27454305 [GRCh37]
Chr16:16p12.1		 likely benign
GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3 copy number gain not specified [RCV003987163] Chr16:25900524..27489837 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1607A>G (p.Gln536Arg) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003823520] Chr16:27449273 [GRCh38]
Chr16:27460594 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1046C>T (p.Pro349Leu) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735056] Chr16:27448712 [GRCh38]
Chr16:27460033 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.246C>T (p.His82=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735267] Chr16:27437581 [GRCh38]
Chr16:27448902 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.205A>C (p.Arg69=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735084] Chr16:27437540 [GRCh38]
Chr16:27448861 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.756C>T (p.Phe252=) single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735410] Chr16:27445247 [GRCh38]
Chr16:27456568 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.352+20A>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003735454] Chr16:27437707 [GRCh38]
Chr16:27449028 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.50-18T>C single nucleotide variant Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV003736238] Chr16:27434329 [GRCh38]
Chr16:27445650 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1137G>A (p.Val379=) single nucleotide variant IL21R-related disorder [RCV003964053] Chr16:27448803 [GRCh38]
Chr16:27460124 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.1147G>A (p.Asp383Asn) single nucleotide variant Inborn genetic diseases [RCV004405170] Chr16:27448813 [GRCh38]
Chr16:27460134 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.1567T>G (p.Trp523Gly) single nucleotide variant Inborn genetic diseases [RCV004405171] Chr16:27449233 [GRCh38]
Chr16:27460554 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.303G>C (p.Gln101His) single nucleotide variant Inborn genetic diseases [RCV004405172] Chr16:27437638 [GRCh38]
Chr16:27448959 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.509G>A (p.Ser170Asn) single nucleotide variant Inborn genetic diseases [RCV004405174] Chr16:27444543 [GRCh38]
Chr16:27455864 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.880G>A (p.Ala294Thr) single nucleotide variant Inborn genetic diseases [RCV004405175] Chr16:27448546 [GRCh38]
Chr16:27459867 [GRCh37]
Chr16:16p12.1		 likely benign
NM_181078.3(IL21R):c.712C>G (p.Leu238Val) single nucleotide variant Inborn genetic diseases [RCV004628016] Chr16:27445203 [GRCh38]
Chr16:27456524 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.364C>G (p.Pro122Ala) single nucleotide variant Inborn genetic diseases [RCV004628017] Chr16:27442973 [GRCh38]
Chr16:27454294 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_181078.3(IL21R):c.637del (p.Thr213fs) deletion Cryptosporidiosis-chronic cholangitis-liver disease syndrome [RCV004764664] Chr16:27444671 [GRCh38]
Chr16:27455992 [GRCh37]
Chr16:16p12.1		 likely pathogenic
NM_181078.3(IL21R):c.870A>T (p.Lys290Asn) single nucleotide variant Inborn genetic diseases [RCV004987817] Chr16:27448536 [GRCh38]
Chr16:27459857 [GRCh37]
Chr16:16p12.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2987
Count of miRNA genes:731
Interacting mature miRNAs:849
Transcripts:ENST00000337929, ENST00000395754, ENST00000395755, ENST00000561953, ENST00000564089, ENST00000564583
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597070246GWAS1166320_Hmosquito bite reaction size measurement QTL GWAS1166320 (human)0.000008mosquito bite reaction size measurement162740632427406325Human
597204361GWAS1300435_Hasthma QTL GWAS1300435 (human)3e-09asthma162740642327406424Human
597204542GWAS1300616_Hasthma QTL GWAS1300616 (human)3e-08asthma162740305727403058Human
597022749GWAS1118823_Hcolorectal health QTL GWAS1118823 (human)0.000009colorectal health162742996227429963Human
597068431GWAS1164505_Hprimary biliary cirrhosis QTL GWAS1164505 (human)4e-16primary biliary cirrhosis162740224527402246Human
597049725GWAS1145799_Hatopic asthma QTL GWAS1145799 (human)7e-09atopic asthma162740871627408717Human
597333543GWAS1429617_Hasthma QTL GWAS1429617 (human)2e-08asthma162740642327406424Human
597299780GWAS1395854_Hprimary biliary cirrhosis QTL GWAS1395854 (human)0.000002primary biliary cirrhosis162740224527402246Human

Markers in Region
IL21R_763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371627,460,728 - 27,461,573UniSTSGRCh37
Build 361627,368,229 - 27,369,074RGDNCBI36
Celera1626,238,052 - 26,238,899RGD
HuRef1625,549,162 - 25,550,009UniSTS
RH47993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371627,459,084 - 27,459,216UniSTSGRCh37
Build 361627,366,585 - 27,366,717RGDNCBI36
Celera1626,236,408 - 26,236,540RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p11UniSTS
HuRef1625,547,518 - 25,547,650UniSTS
GeneMap99-GB4 RH Map16216.15UniSTS
NCBI RH Map16236.4UniSTS
SHGC-60659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371627,461,597 - 27,461,852UniSTSGRCh37
Build 361627,369,098 - 27,369,353RGDNCBI36
Celera1626,238,923 - 26,239,178RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p11UniSTS
HuRef1625,550,033 - 25,550,288UniSTS
Whitehead-RH Map16131.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1200 2344 2678 2176 4888 1697 2232 4 602 1937 442 2225 7031 6346 43 3691 824 1650 1522 165

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA354979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF254067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF269133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW576566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX280155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY064474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ215949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX401767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS080576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS450755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB115361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB702445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB976766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC005802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC196703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC202963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC203224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC686703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000337929   ⟹   ENSP00000338010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1627,402,174 - 27,452,042 (+)Ensembl
Ensembl Acc Id: ENST00000395754   ⟹   ENSP00000379103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1627,427,244 - 27,450,485 (+)Ensembl
Ensembl Acc Id: ENST00000561953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1627,442,670 - 27,444,690 (+)Ensembl
Ensembl Acc Id: ENST00000564089   ⟹   ENSP00000456707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1627,402,174 - 27,450,073 (+)Ensembl
Ensembl Acc Id: ENST00000564583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1627,443,967 - 27,448,674 (+)Ensembl
Ensembl Acc Id: ENST00000697146   ⟹   ENSP00000513135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1627,430,054 - 27,446,084 (+)Ensembl
RefSeq Acc Id: NM_021798   ⟹   NP_068570
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,427,271 - 27,452,042 (+)NCBI
GRCh371627,413,483 - 27,463,363 (+)ENTREZGENE
Build 361627,346,080 - 27,369,616 (+)NCBI Archive
HuRef1625,501,903 - 25,551,799 (+)ENTREZGENE
CHM1_11628,450,292 - 28,475,081 (+)NCBI
T2T-CHM13v2.01627,706,010 - 27,730,794 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181078   ⟹   NP_851564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,402,174 - 27,452,042 (+)NCBI
GRCh371627,413,483 - 27,463,363 (+)ENTREZGENE
Build 361627,321,224 - 27,369,616 (+)NCBI Archive
HuRef1625,501,903 - 25,551,799 (+)ENTREZGENE
CHM1_11628,425,032 - 28,475,081 (+)NCBI
T2T-CHM13v2.01627,680,921 - 27,730,794 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181079   ⟹   NP_851565
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,402,174 - 27,452,042 (+)NCBI
GRCh371627,413,483 - 27,463,363 (+)NCBI
Build 361627,321,924 - 27,369,616 (+)NCBI Archive
HuRef1625,501,903 - 25,551,799 (+)ENTREZGENE
CHM1_11628,425,032 - 28,475,081 (+)NCBI
T2T-CHM13v2.01627,680,921 - 27,730,794 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545857   ⟹   XP_011544159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,402,174 - 27,452,042 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023257   ⟹   XP_016878746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,402,174 - 27,452,042 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434180   ⟹   XP_047290136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,434,364 - 27,452,042 (+)NCBI
RefSeq Acc Id: XM_054380409   ⟹   XP_054236384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01627,694,930 - 27,730,794 (+)NCBI
RefSeq Acc Id: XM_054380410   ⟹   XP_054236385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01627,713,103 - 27,730,794 (+)NCBI
Protein Sequences
Protein RefSeqs NP_068570 (Get FASTA)   NCBI Sequence Viewer  
  NP_851564 (Get FASTA)   NCBI Sequence Viewer  
  NP_851565 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544159 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878746 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236384 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236385 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG23419 (Get FASTA)   NCBI Sequence Viewer  
  AAG29346 (Get FASTA)   NCBI Sequence Viewer  
  AAH04348 (Get FASTA)   NCBI Sequence Viewer  
  AAH07946 (Get FASTA)   NCBI Sequence Viewer  
  AAL39168 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89185 (Get FASTA)   NCBI Sequence Viewer  
  BAF85352 (Get FASTA)   NCBI Sequence Viewer  
  BAG35682 (Get FASTA)   NCBI Sequence Viewer  
  CAD10550 (Get FASTA)   NCBI Sequence Viewer  
  CAI94502 (Get FASTA)   NCBI Sequence Viewer  
  CAL81201 (Get FASTA)   NCBI Sequence Viewer  
  CAS03334 (Get FASTA)   NCBI Sequence Viewer  
  CBE74748 (Get FASTA)   NCBI Sequence Viewer  
  CBG76750 (Get FASTA)   NCBI Sequence Viewer  
  CBI70421 (Get FASTA)   NCBI Sequence Viewer  
  CBI85467 (Get FASTA)   NCBI Sequence Viewer  
  CBI85470 (Get FASTA)   NCBI Sequence Viewer  
  CBL93960 (Get FASTA)   NCBI Sequence Viewer  
  CBX47555 (Get FASTA)   NCBI Sequence Viewer  
  CBX47556 (Get FASTA)   NCBI Sequence Viewer  
  CBX47557 (Get FASTA)   NCBI Sequence Viewer  
  EAW55746 (Get FASTA)   NCBI Sequence Viewer  
  EAW55747 (Get FASTA)   NCBI Sequence Viewer  
  EAW55748 (Get FASTA)   NCBI Sequence Viewer  
  EAW55749 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000338010
  ENSP00000338010.3
  ENSP00000379103
  ENSP00000379103.4
  ENSP00000456707.1
  ENSP00000513135.1
GenBank Protein Q9HBE5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_851565   ⟸   NM_181079
- Peptide Label: isoform 2 precursor
- UniProtKB: B2R735 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_851564   ⟸   NM_181078
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96HZ1 (UniProtKB/Swiss-Prot),   D3DWF7 (UniProtKB/Swiss-Prot),   A8K9E8 (UniProtKB/Swiss-Prot),   Q9HB91 (UniProtKB/Swiss-Prot),   Q9HBE5 (UniProtKB/Swiss-Prot),   B2R735 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_068570   ⟸   NM_021798
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96HZ1 (UniProtKB/Swiss-Prot),   D3DWF7 (UniProtKB/Swiss-Prot),   A8K9E8 (UniProtKB/Swiss-Prot),   Q9HB91 (UniProtKB/Swiss-Prot),   Q9HBE5 (UniProtKB/Swiss-Prot),   B2R735 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544159   ⟸   XM_011545857
- Peptide Label: isoform X1
- UniProtKB: B2R735 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878746   ⟸   XM_017023257
- Peptide Label: isoform X2
- UniProtKB: Q96HZ1 (UniProtKB/Swiss-Prot),   D3DWF7 (UniProtKB/Swiss-Prot),   A8K9E8 (UniProtKB/Swiss-Prot),   Q9HB91 (UniProtKB/Swiss-Prot),   Q9HBE5 (UniProtKB/Swiss-Prot),   B2R735 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000338010   ⟸   ENST00000337929
Ensembl Acc Id: ENSP00000456707   ⟸   ENST00000564089
Ensembl Acc Id: ENSP00000379103   ⟸   ENST00000395754
RefSeq Acc Id: XP_047290136   ⟸   XM_047434180
- Peptide Label: isoform X3
Ensembl Acc Id: ENSP00000513135   ⟸   ENST00000697146
RefSeq Acc Id: XP_054236384   ⟸   XM_054380409
- Peptide Label: isoform X2
- UniProtKB: Q9HBE5 (UniProtKB/Swiss-Prot),   Q96HZ1 (UniProtKB/Swiss-Prot),   D3DWF7 (UniProtKB/Swiss-Prot),   A8K9E8 (UniProtKB/Swiss-Prot),   Q9HB91 (UniProtKB/Swiss-Prot),   B2R735 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054236385   ⟸   XM_054380410
- Peptide Label: isoform X3
Protein Domains
Fibronectin type-III

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HBE5-F1-model_v2 AlphaFold Q9HBE5 1-538 view protein structure

Promoters
RGD ID:6793189
Promoter ID:HG_KWN:23373
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:NM_181079,   OTTHUMT00000254578
Position:
Human AssemblyChrPosition (strand)Source
Build 361627,321,031 - 27,321,807 (+)MPROMDB
RGD ID:6793188
Promoter ID:HG_KWN:23374
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_021798
Position:
Human AssemblyChrPosition (strand)Source
Build 361627,345,381 - 27,346,117 (+)MPROMDB
RGD ID:6814576
Promoter ID:HG_XEF:2998
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001012469
Position:
Human AssemblyChrPosition (strand)Source
Build 361627,352,949 - 27,353,449 (+)MPROMDB
RGD ID:6815136
Promoter ID:HG_MRA:5935
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC007946
Position:
Human AssemblyChrPosition (strand)Source
Build 361627,364,236 - 27,365,037 (+)MPROMDB
RGD ID:7231669
Promoter ID:EPDNEW_H21581
Type:initiation region
Name:IL21R_2
Description:interleukin 21 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21582  EPDNEW_H21583  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,402,174 - 27,402,234EPDNEW
RGD ID:7231671
Promoter ID:EPDNEW_H21582
Type:initiation region
Name:IL21R_3
Description:interleukin 21 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21581  EPDNEW_H21583  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,402,510 - 27,402,570EPDNEW
RGD ID:7231673
Promoter ID:EPDNEW_H21583
Type:initiation region
Name:IL21R_1
Description:interleukin 21 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21581  EPDNEW_H21582  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381627,427,280 - 27,427,340EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6006 AgrOrtholog
COSMIC IL21R COSMIC
Ensembl Genes ENSG00000103522 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000337929 ENTREZGENE
  ENST00000337929.8 UniProtKB/Swiss-Prot
  ENST00000395754 ENTREZGENE
  ENST00000395754.4 UniProtKB/Swiss-Prot
  ENST00000564089.5 UniProtKB/Swiss-Prot
  ENST00000697146.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103522 GTEx
HGNC ID HGNC:6006 ENTREZGENE
Human Proteome Map IL21R Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hempt_rcpt_S_F1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50615 UniProtKB/Swiss-Prot
NCBI Gene 50615 ENTREZGENE
OMIM 605383 OMIM
PANTHER CYTOKINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTERLEUKIN-21 RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29821 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMATOPO_REC_S_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Fibronectin type III UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A8V8TL34_HUMAN UniProtKB/TrEMBL
  A8K9E8 ENTREZGENE
  B2R735 ENTREZGENE, UniProtKB/TrEMBL
  D3DWF7 ENTREZGENE
  IL21R_HUMAN UniProtKB/Swiss-Prot
  Q96HZ1 ENTREZGENE
  Q9HB91 ENTREZGENE
  Q9HBE5 ENTREZGENE
UniProt Secondary A8K9E8 UniProtKB/Swiss-Prot
  D3DWF7 UniProtKB/Swiss-Prot
  Q96HZ1 UniProtKB/Swiss-Prot
  Q9HB91 UniProtKB/Swiss-Prot