IL36RN (interleukin 36 receptor antagonist) - Rat Genome Database

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Gene: IL36RN (interleukin 36 receptor antagonist) Homo sapiens
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Symbol: IL36RN
Name: interleukin 36 receptor antagonist
RGD ID: 1322552
HGNC Page HGNC:15561
Description: Predicted to enable interleukin-1 receptor antagonist activity. Involved in antifungal humoral response; negative regulation of cytokine production; and negative regulation of cytokine-mediated signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in pustular psoriasis 14.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: family of interleukin 1-delta; FIL1; FIL1 delta; FIL1(DELTA); FIL1D; IL-1 delta; IL-1 related protein 3; IL-1-related protein 3; IL-1F5 (IL-1HY1, FIL1-delta, IL-1RP3, IL-1L1, IL-1-delta); IL-1HY1; IL-1L1; IL-1ra homolog 1; IL-36Ra; IL1F5; IL1F5 (Canonical product IL-1F5a); IL1HY1; IL1L1; IL1RP3; IL36RA; interleukin 1 family, member 5 (delta); interleukin 1, delta; interleukin-1 delta; interleukin-1 family member 5; interleukin-1 HY1; interleukin-1 receptor antagonist homolog 1; interleukin-1-like protein 1; interleukin-36 receptor antagonist protein; MGC29840; PSORP; PSORS14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh382113,058,638 - 113,064,744 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2113,058,638 - 113,065,382 (+)EnsemblGRCh38hg38GRCh38
GRCh372113,816,215 - 113,822,321 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362113,532,686 - 113,538,792 (+)NCBINCBI36Build 36hg18NCBI36
Build 342113,532,445 - 113,538,549NCBI
Celera2107,201,384 - 107,207,490 (+)NCBICelera
Cytogenetic Map2q14.1NCBI
HuRef2106,271,122 - 106,277,233 (+)NCBIHuRef
CHM1_12113,820,366 - 113,826,472 (+)NCBICHM1_1
T2T-CHM13v2.02113,485,166 - 113,491,272 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Deficiency of Interleukin-36 Receptor Protected Cardiomyocytes from Ischemia-Reperfusion Injury in Cardiopulmonary Bypass. Luo C, etal., Med Sci Monit. 2020 Feb 12;26:e918933. doi: 10.12659/MSM.918933.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8188271   PMID:9169134   PMID:10512743   PMID:10625660   PMID:10744718   PMID:10860666   PMID:10866108   PMID:11093146   PMID:11145836   PMID:11278614   PMID:11466363   PMID:11574262  
PMID:11841485   PMID:11991722   PMID:12477932   PMID:12975309   PMID:14644395   PMID:14702039   PMID:15231748   PMID:15489334   PMID:15815621   PMID:16189514   PMID:16211343   PMID:16918024  
PMID:16978071   PMID:17975119   PMID:18484691   PMID:19023099   PMID:19913121   PMID:20141484   PMID:20237496   PMID:20379614   PMID:20628086   PMID:21242515   PMID:21839423   PMID:21873635  
PMID:21965679   PMID:22315422   PMID:22325761   PMID:22862555   PMID:22903787   PMID:23147407   PMID:23303454   PMID:23358093   PMID:23428889   PMID:23648549   PMID:23698098   PMID:23792462  
PMID:23863864   PMID:24656634   PMID:24717243   PMID:24829417   PMID:24979538   PMID:25212972   PMID:25416956   PMID:25458002   PMID:25468355   PMID:25615897   PMID:25688670   PMID:25897967  
PMID:25989471   PMID:26147717   PMID:26589685   PMID:26627198   PMID:26676204   PMID:27038307   PMID:27101808   PMID:27220475   PMID:27542682   PMID:27900482   PMID:28514442   PMID:28603914  
PMID:28887889   PMID:29454537   PMID:29571080   PMID:29619998   PMID:29914290   PMID:30075588   PMID:30378314   PMID:31539532   PMID:31789248   PMID:32296183   PMID:33157966   PMID:33415665  
PMID:33961781   PMID:34176064   PMID:34272761   PMID:34369094   PMID:35903102   PMID:36331855   PMID:36577391   PMID:36804966   PMID:36843152   PMID:36843341   PMID:37414245  


Genomics

Comparative Map Data
IL36RN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382113,058,638 - 113,064,744 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2113,058,638 - 113,065,382 (+)EnsemblGRCh38hg38GRCh38
GRCh372113,816,215 - 113,822,321 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362113,532,686 - 113,538,792 (+)NCBINCBI36Build 36hg18NCBI36
Build 342113,532,445 - 113,538,549NCBI
Celera2107,201,384 - 107,207,490 (+)NCBICelera
Cytogenetic Map2q14.1NCBI
HuRef2106,271,122 - 106,277,233 (+)NCBIHuRef
CHM1_12113,820,366 - 113,826,472 (+)NCBICHM1_1
T2T-CHM13v2.02113,485,166 - 113,491,272 (+)NCBIT2T-CHM13v2.0
Il36rn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39224,166,966 - 24,172,444 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl224,166,966 - 24,173,438 (+)EnsemblGRCm39 Ensembl
GRCm38224,276,954 - 24,282,432 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl224,276,954 - 24,283,426 (+)EnsemblGRCm38mm10GRCm38
MGSCv37224,132,474 - 24,137,952 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36224,099,412 - 24,104,085 (+)NCBIMGSCv36mm8
Celera223,996,392 - 24,001,870 (+)NCBICelera
Cytogenetic Map2A3NCBI
cM Map216.31NCBI
Il36rn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8327,442,679 - 27,449,306 (+)NCBIGRCr8
mRatBN7.237,044,419 - 7,051,016 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl37,044,406 - 7,051,016 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx310,155,713 - 10,162,310 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0318,741,940 - 18,748,537 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0316,931,750 - 16,938,347 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.031,385,256 - 1,392,275 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl31,385,654 - 1,392,275 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.031,378,833 - 1,385,430 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.432,530,402 - 2,536,999 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.132,520,904 - 2,534,765 (+)NCBI
Celera31,881,325 - 1,887,922 (+)NCBICelera
Cytogenetic Map3p13NCBI
Il36rn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554701,209,325 - 1,214,821 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554701,209,389 - 1,214,730 (-)NCBIChiLan1.0ChiLan1.0
IL36RN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21215,124,677 - 15,133,315 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A15,127,442 - 15,136,080 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A89,059,526 - 89,065,695 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A114,003,745 - 114,009,865 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A114,004,209 - 114,009,865 (+)Ensemblpanpan1.1panPan2
IL36RN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11737,184,527 - 37,190,094 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1737,184,801 - 37,189,018 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1736,954,558 - 36,960,118 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01737,961,425 - 37,966,985 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1737,960,679 - 37,965,143 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11737,096,825 - 37,102,385 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01737,153,330 - 37,158,890 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01737,367,110 - 37,372,667 (+)NCBIUU_Cfam_GSD_1.0
Il36rn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629282,509,294 - 82,510,160 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367831,401,482 - 1,404,416 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367831,396,720 - 1,404,416 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL36RN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11416,079,045 - 16,085,245 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1416,079,906 - 16,083,167 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660803,595,687 - 3,601,850 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Il36rn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474913,137,782 - 13,143,031 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474913,137,512 - 13,145,578 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IL36RN
193 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012275.3(IL36RN):c.115+6T>C single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002508136]|Autoinflammatory syndrome [RCV002262597]|Generalized pustular psoriasis [RCV000033132]|IL36RN-related disorder [RCV003914894] Chr2:113060943 [GRCh38]
Chr2:113060943..113060944 [GRCh38]
Chr2:113818520 [GRCh37]
Chr2:113818520..113818521 [GRCh37]
Chr2:2q14.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002508133]|Generalized pustular psoriasis [RCV000023446]|not provided [RCV001090265] Chr2:113060902 [GRCh38]
Chr2:113818479 [GRCh37]
Chr2:2q14.1		 pathogenic
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002288518]|Autoinflammatory syndrome [RCV002262572]|Generalized pustular psoriasis [RCV000023447]|IL36RN-related disorder [RCV003415734]|not provided [RCV000513043] Chr2:113062547 [GRCh38]
Chr2:113820124 [GRCh37]
Chr2:2q14.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002508134]|Generalized pustular psoriasis [RCV000023448]|IL36RN-related disorder [RCV004755749]|not provided [RCV001701724] Chr2:113062150 [GRCh38]
Chr2:113819727 [GRCh37]
Chr2:2q14.1		 pathogenic|uncertain significance
NM_012275.3(IL36RN):c.368C>G (p.Thr123Arg) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002508137] Chr2:113062577 [GRCh38]
Chr2:113820154 [GRCh37]
Chr2:2q14.1		 pathogenic
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002508138]|Generalized pustular psoriasis [RCV000033134] Chr2:113059466 [GRCh38]
Chr2:113817043 [GRCh37]
Chr2:2q14.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q14.1(chr2:112924872-113105404)x1 copy number loss See cases [RCV000053808] Chr2:112924872..113105404 [GRCh38]
Chr2:113682449..113862981 [GRCh37]
Chr2:113398920..113579452 [NCBI36]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.334G>A (p.Glu112Lys) single nucleotide variant Generalized pustular psoriasis [RCV001934777] Chr2:113062543 [GRCh38]
Chr2:113820120 [GRCh37]
Chr2:113536591 [NCBI36]
Chr2:2q14.1		 uncertain significance|not provided
NM_012275.3(IL36RN):c.333C>T (p.Phe111=) single nucleotide variant Generalized pustular psoriasis [RCV000370369] Chr2:113062542 [GRCh38]
Chr2:113820119 [GRCh37]
Chr2:113536590 [NCBI36]
Chr2:2q14.1		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002508141]|Generalized pustular psoriasis [RCV000148040] Chr2:113060926 [GRCh38]
Chr2:113818503 [GRCh37]
Chr2:2q14.1		 pathogenic|uncertain significance|not provided
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002492539]|not provided [RCV001200640] Chr2:113062513 [GRCh38]
Chr2:113820090 [GRCh37]
Chr2:2q14.1		 pathogenic|uncertain significance|not provided
NM_012275.3(IL36RN):c.*1082C>A single nucleotide variant Generalized pustular psoriasis [RCV000260623]|not provided [RCV004708361] Chr2:113063759 [GRCh38]
Chr2:113821336 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.*222T>C single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV003326130]|Generalized pustular psoriasis [RCV000262540]|not provided [RCV004708352] Chr2:113062899 [GRCh38]
Chr2:113820476 [GRCh37]
Chr2:2q14.1		 benign|uncertain significance
NM_012275.3(IL36RN):c.363G>A (p.Leu121=) single nucleotide variant Autoinflammatory syndrome [RCV002263598]|Generalized pustular psoriasis [RCV000275463]|IL36RN-related disorder [RCV003912386] Chr2:113062572 [GRCh38]
Chr2:113820149 [GRCh37]
Chr2:2q14.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012275.3(IL36RN):c.*401A>C single nucleotide variant Generalized pustular psoriasis [RCV000377776]|not provided [RCV004694463] Chr2:113063078 [GRCh38]
Chr2:113820655 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*185C>T single nucleotide variant Generalized pustular psoriasis [RCV000357253] Chr2:113062862 [GRCh38]
Chr2:113820439 [GRCh37]
Chr2:2q14.1		 uncertain significance
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1		 pathogenic
NM_012275.3(IL36RN):c.*401A>T single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV003326133]|Generalized pustular psoriasis [RCV000283822]|not provided [RCV004709861] Chr2:113063078 [GRCh38]
Chr2:113820655 [GRCh37]
Chr2:2q14.1		 benign|uncertain significance
GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 copy number loss See cases [RCV000240485] Chr2:109798247..125658380 [GRCh37]
Chr2:2q12.3-14.3		 pathogenic
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 copy number loss See cases [RCV000240490] Chr2:109556627..117570152 [GRCh37]
Chr2:2q12.3-14.1		 pathogenic
NM_012275.3(IL36RN):c.*1634A>G single nucleotide variant Generalized pustular psoriasis [RCV000272602]|not provided [RCV004709863] Chr2:113064311 [GRCh38]
Chr2:113821888 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.*1849T>A single nucleotide variant Generalized pustular psoriasis [RCV000352261] Chr2:113064526 [GRCh38]
Chr2:113822103 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*946T>C single nucleotide variant Generalized pustular psoriasis [RCV000300576]|not provided [RCV004708360] Chr2:113063623 [GRCh38]
Chr2:113821200 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.*1995T>C single nucleotide variant Generalized pustular psoriasis [RCV000334663] Chr2:113064672 [GRCh38]
Chr2:113822249 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1633C>T single nucleotide variant Generalized pustular psoriasis [RCV000376457]|not provided [RCV004708362] Chr2:113064310 [GRCh38]
Chr2:113821887 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.*276A>G single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV003326131]|Generalized pustular psoriasis [RCV000317835]|not provided [RCV004708353] Chr2:113062953 [GRCh38]
Chr2:113820530 [GRCh37]
Chr2:2q14.1		 benign|uncertain significance
NM_012275.3(IL36RN):c.*935G>C single nucleotide variant Generalized pustular psoriasis [RCV000401244] Chr2:113063612 [GRCh38]
Chr2:113821189 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.*308T>G single nucleotide variant Generalized pustular psoriasis [RCV000287352]|not provided [RCV004710834] Chr2:113062985 [GRCh38]
Chr2:113820562 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.*560C>G single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV003326135]|Generalized pustular psoriasis [RCV000289570]|not provided [RCV004708357] Chr2:113063237 [GRCh38]
Chr2:113820814 [GRCh37]
Chr2:2q14.1		 benign|uncertain significance
NM_012275.3(IL36RN):c.*1914C>T single nucleotide variant Generalized pustular psoriasis [RCV000338307]|not provided [RCV004708364] Chr2:113064591 [GRCh38]
Chr2:113822168 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.*1763G>A single nucleotide variant Generalized pustular psoriasis [RCV000382330] Chr2:113064440 [GRCh38]
Chr2:113822017 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.*1844A>G single nucleotide variant Generalized pustular psoriasis [RCV000287914] Chr2:113064521 [GRCh38]
Chr2:113822098 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1399T>C single nucleotide variant Generalized pustular psoriasis [RCV000361128]|not provided [RCV004709862] Chr2:113064076 [GRCh38]
Chr2:113821653 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.*478T>C single nucleotide variant Generalized pustular psoriasis [RCV000384030]|not provided [RCV004708356] Chr2:113063155 [GRCh38]
Chr2:113820732 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.*326C>A single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV003326132]|Generalized pustular psoriasis [RCV000323693]|not provided [RCV004708354] Chr2:113063003 [GRCh38]
Chr2:113820580 [GRCh37]
Chr2:2q14.1		 benign|uncertain significance
NM_012275.3(IL36RN):c.*1902T>C single nucleotide variant Generalized pustular psoriasis [RCV000292716]|not provided [RCV004710835] Chr2:113064579 [GRCh38]
Chr2:113822156 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.*581C>G single nucleotide variant Generalized pustular psoriasis [RCV000344589] Chr2:113063258 [GRCh38]
Chr2:113820835 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1881G>T single nucleotide variant Generalized pustular psoriasis [RCV000388188]|not provided [RCV004708363] Chr2:113064558 [GRCh38]
Chr2:113822135 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_173170.1(IL36RN):c.-27-299G>C single nucleotide variant Generalized pustular psoriasis [RCV000310031] Chr2:113059113 [GRCh38]
Chr2:113816690 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1660G>A single nucleotide variant Generalized pustular psoriasis [RCV000327629] Chr2:113064337 [GRCh38]
Chr2:113821914 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.*418A>G single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV003326134]|Generalized pustular psoriasis [RCV000348147]|not provided [RCV004708355] Chr2:113063095 [GRCh38]
Chr2:113820672 [GRCh37]
Chr2:2q14.1		 benign|uncertain significance
NM_012275.3(IL36RN):c.*1258C>A single nucleotide variant Generalized pustular psoriasis [RCV000297076] Chr2:113063935 [GRCh38]
Chr2:113821512 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*6C>T single nucleotide variant Generalized pustular psoriasis [RCV000330599] Chr2:113062683 [GRCh38]
Chr2:113820260 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*863C>T single nucleotide variant Generalized pustular psoriasis [RCV000349605]|not provided [RCV004708359] Chr2:113063540 [GRCh38]
Chr2:113821117 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.*1987G>A single nucleotide variant Generalized pustular psoriasis [RCV000298498]|not provided [RCV004708365] Chr2:113064664 [GRCh38]
Chr2:113822241 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.*281G>A single nucleotide variant Generalized pustular psoriasis [RCV000372461] Chr2:113062958 [GRCh38]
Chr2:113820535 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.*828G>A single nucleotide variant Generalized pustular psoriasis [RCV000396604]|not provided [RCV004708358] Chr2:113063505 [GRCh38]
Chr2:113821082 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.*1540G>A single nucleotide variant Generalized pustular psoriasis [RCV000266487] Chr2:113064217 [GRCh38]
Chr2:113821794 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*857A>G single nucleotide variant Generalized pustular psoriasis [RCV000314216] Chr2:113063534 [GRCh38]
Chr2:113821111 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.30-14T>A single nucleotide variant Generalized pustular psoriasis [RCV000399615] Chr2:113060838 [GRCh38]
Chr2:113818415 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.-47G>A single nucleotide variant Generalized pustular psoriasis [RCV000364420] Chr2:113059222 [GRCh38]
Chr2:113816799 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.248T>A (p.Val83Glu) single nucleotide variant Generalized pustular psoriasis [RCV000306409]|Inborn genetic diseases [RCV002521265] Chr2:113062457 [GRCh38]
Chr2:113820034 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1585A>G single nucleotide variant Generalized pustular psoriasis [RCV000321778] Chr2:113064262 [GRCh38]
Chr2:113821839 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1051T>C single nucleotide variant Generalized pustular psoriasis [RCV000355488] Chr2:113063728 [GRCh38]
Chr2:113821305 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_173170.1(IL36RN):c.-27-318G>A single nucleotide variant Generalized pustular psoriasis [RCV000283910] Chr2:113059094 [GRCh38]
Chr2:113816671 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1942C>G single nucleotide variant Generalized pustular psoriasis [RCV000395732] Chr2:113064619 [GRCh38]
Chr2:113822196 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.169G>A (p.Val57Ile) single nucleotide variant Autoinflammatory syndrome [RCV002263818]|Generalized pustular psoriasis [RCV001084574]|not provided [RCV000585337] Chr2:113062177 [GRCh38]
Chr2:113819754 [GRCh37]
Chr2:2q14.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q13(chr2:113735617-113891118)x1 copy number loss See cases [RCV000448884] Chr2:113735617..113891118 [GRCh37]
Chr2:2q13		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_012275.3(IL36RN):c.200G>T (p.Cys67Phe) single nucleotide variant Generalized pustular psoriasis [RCV000635392] Chr2:113062208 [GRCh38]
Chr2:113819785 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.140A>G (p.Asn47Ser) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002492978]|Autoinflammatory syndrome [RCV002263869]|Generalized pustular psoriasis [RCV000635396]|not provided [RCV001637107] Chr2:113062148 [GRCh38]
Chr2:113819725 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.6C>T (p.Val2=) single nucleotide variant Autoinflammatory syndrome [RCV002263871]|Generalized pustular psoriasis [RCV000635398]|not provided [RCV004597839] Chr2:113059444 [GRCh38]
Chr2:113817021 [GRCh37]
Chr2:2q14.1		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
NM_012275.3(IL36RN):c.386A>G (p.Gln129Arg) single nucleotide variant Generalized pustular psoriasis [RCV000635393] Chr2:113062595 [GRCh38]
Chr2:113820172 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.230C>T (p.Thr77Ile) single nucleotide variant Autoinflammatory syndrome [RCV002263868]|Generalized pustular psoriasis [RCV000635394]|not provided [RCV001200639] Chr2:113062238 [GRCh38]
Chr2:113819815 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val) single nucleotide variant Deficiency of the interleukin-36 receptor antagonist [RCV003330854]|Generalized pustular psoriasis [RCV000635395]|not provided [RCV004791652] Chr2:113062645 [GRCh38]
Chr2:113820222 [GRCh37]
Chr2:2q14.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_012275.3(IL36RN):c.369G>C (p.Thr123=) single nucleotide variant Autoinflammatory syndrome [RCV002263870]|Generalized pustular psoriasis [RCV000635397]|not provided [RCV004710170] Chr2:113062578 [GRCh38]
Chr2:113820155 [GRCh37]
Chr2:2q14.1		 benign|likely benign
NM_012275.3(IL36RN):c.411C>T (p.Pro137=) single nucleotide variant Generalized pustular psoriasis [RCV001405968] Chr2:113062620 [GRCh38]
Chr2:113820197 [GRCh37]
Chr2:2q14.1		 likely benign
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2q13(chr2:113698135-114064263)x1 copy number loss not provided [RCV000682066] Chr2:113698135..114064263 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13		 pathogenic
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV004796284]|Generalized pustular psoriasis [RCV000697421]|not provided [RCV000997194] Chr2:113062235 [GRCh38]
Chr2:113819812 [GRCh37]
Chr2:2q14.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_012275.3(IL36RN):c.115+5G>A single nucleotide variant Autoinflammatory syndrome [RCV002263965]|Generalized pustular psoriasis [RCV001054362]|not provided [RCV000762280] Chr2:113060942 [GRCh38]
Chr2:113818519 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1244A>G single nucleotide variant Generalized pustular psoriasis [RCV001132190] Chr2:113063921 [GRCh38]
Chr2:113821498 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.244-6C>T single nucleotide variant Autoinflammatory syndrome [RCV002264070]|Generalized pustular psoriasis [RCV000902603] Chr2:113062447 [GRCh38]
Chr2:113820024 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.244-5G>A single nucleotide variant Autoinflammatory syndrome [RCV002264148]|Generalized pustular psoriasis [RCV001037461] Chr2:113062448 [GRCh38]
Chr2:113820025 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.275C>T (p.Ala92Val) single nucleotide variant Generalized pustular psoriasis [RCV001038906] Chr2:113062484 [GRCh38]
Chr2:113820061 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.307C>T (p.Arg103Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264160]|Generalized pustular psoriasis [RCV001048048] Chr2:113062516 [GRCh38]
Chr2:113820093 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.130G>A (p.Val44Met) single nucleotide variant Generalized pustular psoriasis [RCV001036551] Chr2:113062138 [GRCh38]
Chr2:113819715 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.-28+1G>A single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002477782]|Generalized pustular psoriasis [RCV000779275] Chr2:113059242 [GRCh38]
Chr2:113816819 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.291C>T (p.Ser97=) single nucleotide variant Generalized pustular psoriasis [RCV000938793] Chr2:113062500 [GRCh38]
Chr2:113820077 [GRCh37]
Chr2:2q14.1		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_012275.3(IL36RN):c.368C>T (p.Thr123Met) single nucleotide variant Generalized pustular psoriasis [RCV000820040] Chr2:113062577 [GRCh38]
Chr2:113820154 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.29+5G>A single nucleotide variant Generalized pustular psoriasis [RCV001136347] Chr2:113059472 [GRCh38]
Chr2:113817049 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1641C>G single nucleotide variant Generalized pustular psoriasis [RCV001133120] Chr2:113064318 [GRCh38]
Chr2:113821895 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.136C>T (p.Pro46Ser) single nucleotide variant Generalized pustular psoriasis [RCV000792408]|not provided [RCV003480821] Chr2:113062144 [GRCh38]
Chr2:113819721 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.421G>A (p.Gly141Ser) single nucleotide variant Generalized pustular psoriasis [RCV001132076] Chr2:113062630 [GRCh38]
Chr2:113820207 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.164C>T (p.Ser55Phe) single nucleotide variant Generalized pustular psoriasis [RCV000797722] Chr2:113062172 [GRCh38]
Chr2:113819749 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1698G>A single nucleotide variant Generalized pustular psoriasis [RCV001133121] Chr2:113064375 [GRCh38]
Chr2:113821952 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.101G>C (p.Gly34Ala) single nucleotide variant not provided [RCV000788467] Chr2:113060923 [GRCh38]
Chr2:113818500 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1866T>C single nucleotide variant Generalized pustular psoriasis [RCV001134592] Chr2:113064543 [GRCh38]
Chr2:113822120 [GRCh37]
Chr2:2q14.1		 uncertain significance
GRCh37/hg19 2q13(chr2:113717386-113892774)x1 copy number loss not provided [RCV000847007] Chr2:113717386..113892774 [GRCh37]
Chr2:2q13		 pathogenic
NM_012275.3(IL36RN):c.*866G>A single nucleotide variant Generalized pustular psoriasis [RCV001129467] Chr2:113063543 [GRCh38]
Chr2:113821120 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*1405G>T single nucleotide variant Generalized pustular psoriasis [RCV001133119] Chr2:113064082 [GRCh38]
Chr2:113821659 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu) single nucleotide variant Autoinflammatory syndrome [RCV002264077]|Generalized pustular psoriasis [RCV000907339] Chr2:113062454 [GRCh38]
Chr2:113820031 [GRCh37]
Chr2:2q14.1		 benign|likely benign|uncertain significance
NM_012275.3(IL36RN):c.*720G>T single nucleotide variant Generalized pustular psoriasis [RCV001129466] Chr2:113063397 [GRCh38]
Chr2:113820974 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.306G>A (p.Arg102=) single nucleotide variant Generalized pustular psoriasis [RCV000934625] Chr2:113062515 [GRCh38]
Chr2:113820092 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.*426G>T single nucleotide variant Generalized pustular psoriasis [RCV001136451] Chr2:113063103 [GRCh38]
Chr2:113820680 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.350C>T (p.Pro117Leu) single nucleotide variant Generalized pustular psoriasis [RCV001049860] Chr2:113062559 [GRCh38]
Chr2:113820136 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*594T>C single nucleotide variant Generalized pustular psoriasis [RCV001129465] Chr2:113063271 [GRCh38]
Chr2:113820848 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.369G>A (p.Thr123=) single nucleotide variant Autoinflammatory syndrome [RCV002264220]|Generalized pustular psoriasis [RCV001205120] Chr2:113062578 [GRCh38]
Chr2:113820155 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.*1891G>A single nucleotide variant Generalized pustular psoriasis [RCV001134593] Chr2:113064568 [GRCh38]
Chr2:113822145 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*106G>A single nucleotide variant Generalized pustular psoriasis [RCV001132077] Chr2:113062783 [GRCh38]
Chr2:113820360 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*298G>A single nucleotide variant Generalized pustular psoriasis [RCV001133014] Chr2:113062975 [GRCh38]
Chr2:113820552 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.123G>T (p.Glu41Asp) single nucleotide variant Generalized pustular psoriasis [RCV001203186] Chr2:113062131 [GRCh38]
Chr2:113819708 [GRCh37]
Chr2:2q14.1		 uncertain significance
NC_000002.12:g.(?_113060832)_(113116890_?)del deletion Generalized pustular psoriasis [RCV001032679] Chr2:113818409..113874467 [GRCh37]
Chr2:2q13		 likely pathogenic
NM_012275.3(IL36RN):c.*883T>C single nucleotide variant Generalized pustular psoriasis [RCV001129468] Chr2:113063560 [GRCh38]
Chr2:113821137 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.194G>A (p.Ser65Asn) single nucleotide variant Generalized pustular psoriasis [RCV001349918] Chr2:113062202 [GRCh38]
Chr2:113819779 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.29+6T>C single nucleotide variant Generalized pustular psoriasis [RCV001325154] Chr2:113059473 [GRCh38]
Chr2:113817050 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.266A>G (p.Tyr89Cys) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV002476678]|Generalized pustular psoriasis [RCV001367500] Chr2:113062475 [GRCh38]
Chr2:113820052 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.240A>G (p.Leu80=) single nucleotide variant Generalized pustular psoriasis [RCV001433640]|IL36RN-related disorder [RCV003930922] Chr2:113062248 [GRCh38]
Chr2:113819825 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.334G>T (p.Glu112Ter) single nucleotide variant Pustular psoriasis, generalized [RCV001330412] Chr2:113062543 [GRCh38]
Chr2:113820120 [GRCh37]
Chr2:2q14.1		 pathogenic
NM_012275.3(IL36RN):c.349C>G (p.Pro117Ala) single nucleotide variant Generalized pustular psoriasis [RCV001307839]|Inborn genetic diseases [RCV004034145] Chr2:113062558 [GRCh38]
Chr2:113820135 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.40T>G (p.Ser14Ala) single nucleotide variant Generalized pustular psoriasis [RCV001314071] Chr2:113060862 [GRCh38]
Chr2:113818439 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.351G>A (p.Pro117=) single nucleotide variant Generalized pustular psoriasis [RCV001324834]|IL36RN-related disorder [RCV003898310] Chr2:113062560 [GRCh38]
Chr2:113820137 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.302A>T (p.Tyr101Phe) single nucleotide variant Generalized pustular psoriasis [RCV001325905] Chr2:113062511 [GRCh38]
Chr2:113820088 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.29G>A (p.Arg10Gln) single nucleotide variant Autoinflammatory syndrome [RCV002264281]|Generalized pustular psoriasis [RCV001364509] Chr2:113059467 [GRCh38]
Chr2:113817044 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.451T>A (p.Phe151Ile) single nucleotide variant Autoinflammatory syndrome [RCV002264283]|Generalized pustular psoriasis [RCV001366279] Chr2:113062660 [GRCh38]
Chr2:113820237 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.139A>G (p.Asn47Asp) single nucleotide variant Generalized pustular psoriasis [RCV001361143] Chr2:113062147 [GRCh38]
Chr2:113819724 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.102G>A (p.Gly34=) single nucleotide variant Generalized pustular psoriasis [RCV001457060] Chr2:113060924 [GRCh38]
Chr2:113818501 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.29+1G>A single nucleotide variant Generalized pustular psoriasis [RCV001377160] Chr2:113059468 [GRCh38]
Chr2:113817045 [GRCh37]
Chr2:2q14.1		 likely pathogenic
NC_000002.11:g.(?_113816996)_(113820274_?)del deletion Generalized pustular psoriasis [RCV001384237] Chr2:113816996..113820274 [GRCh37]
Chr2:2q13		 pathogenic
NM_012275.3(IL36RN):c.116-5C>G single nucleotide variant Generalized pustular psoriasis [RCV001411927] Chr2:113062119 [GRCh38]
Chr2:113819696 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.375T>C (p.Pro125=) single nucleotide variant Generalized pustular psoriasis [RCV001448216] Chr2:113062584 [GRCh38]
Chr2:113820161 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.18G>A (p.Ala6=) single nucleotide variant Generalized pustular psoriasis [RCV001485628] Chr2:113059456 [GRCh38]
Chr2:113817033 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.348C>T (p.Tyr116=) single nucleotide variant Generalized pustular psoriasis [RCV001466461] Chr2:113062557 [GRCh38]
Chr2:113820134 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.115+7G>A single nucleotide variant Generalized pustular psoriasis [RCV001458661] Chr2:113060944 [GRCh38]
Chr2:113818521 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.75G>A (p.Gln25=) single nucleotide variant Generalized pustular psoriasis [RCV001468723] Chr2:113060897 [GRCh38]
Chr2:113818474 [GRCh37]
Chr2:2q14.1		 likely benign
GRCh37/hg19 2q13-14.1(chr2:113609489-115817535)x3 copy number gain not provided [RCV001833062] Chr2:113609489..115817535 [GRCh37]
Chr2:2q13-14.1		 uncertain significance
NM_012275.3(IL36RN):c.253A>G (p.Ile85Val) single nucleotide variant Generalized pustular psoriasis [RCV001970678] Chr2:113062462 [GRCh38]
Chr2:113820039 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.335dup (p.Ser113fs) duplication Generalized pustular psoriasis [RCV001864306] Chr2:113062543..113062544 [GRCh38]
Chr2:113820120..113820121 [GRCh37]
Chr2:2q14.1		 uncertain significance
NC_000002.12:g.(?_112924872)_(113105404_?)del deletion Endometriosis [RCV001824107] Chr2:112924872..113105404 [GRCh38]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.29+15C>G single nucleotide variant Generalized pustular psoriasis [RCV001915448] Chr2:113059482 [GRCh38]
Chr2:113817059 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.317G>C (p.Gly106Ala) single nucleotide variant Autoinflammatory syndrome [RCV002264413]|Generalized pustular psoriasis [RCV001895901] Chr2:113062526 [GRCh38]
Chr2:113820103 [GRCh37]
Chr2:2q14.1		 uncertain significance
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 copy number gain not provided [RCV001832896] Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q13-14.3(chr2:113188197-128144700) copy number loss not specified [RCV002053220] Chr2:113188197..128144700 [GRCh37]
Chr2:2q13-14.3		 pathogenic
NM_012275.3(IL36RN):c.418G>T (p.Gly140Cys) single nucleotide variant Generalized pustular psoriasis [RCV001892677] Chr2:113062627 [GRCh38]
Chr2:113820204 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.208T>C (p.Cys70Arg) single nucleotide variant Generalized pustular psoriasis [RCV001912507] Chr2:113062216 [GRCh38]
Chr2:113819793 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.458A>G (p.Gln153Arg) single nucleotide variant Generalized pustular psoriasis [RCV001894863] Chr2:113062667 [GRCh38]
Chr2:113820244 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.329del (p.Ser110fs) deletion Generalized pustular psoriasis [RCV002006904] Chr2:113062538 [GRCh38]
Chr2:113820115 [GRCh37]
Chr2:2q14.1		 uncertain significance
GRCh37/hg19 2q13(chr2:113295194-114085649)x3 copy number gain not provided [RCV001834499] Chr2:113295194..114085649 [GRCh37]
Chr2:2q13		 uncertain significance
NM_012275.3(IL36RN):c.308G>A (p.Arg103Gln) single nucleotide variant Autoinflammatory syndrome [RCV002264409]|Generalized pustular psoriasis [RCV001944592] Chr2:113062517 [GRCh38]
Chr2:113820094 [GRCh37]
Chr2:2q14.1		 uncertain significance
NC_000002.11:g.(?_113817016)_(113890448_?)del deletion Generalized pustular psoriasis [RCV003120785]|Sterile multifocal osteomyelitis with periostitis and pustulosis [RCV001963059] Chr2:113817016..113890448 [GRCh37]
Chr2:2q13		 pathogenic
NM_012275.3(IL36RN):c.398_413del (p.Leu133fs) deletion Generalized pustular psoriasis [RCV001901682] Chr2:113062607..113062622 [GRCh38]
Chr2:113820184..113820199 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.8T>C (p.Leu3Pro) single nucleotide variant Generalized pustular psoriasis [RCV001920891] Chr2:113059446 [GRCh38]
Chr2:113817023 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.142C>A (p.Arg48=) single nucleotide variant Generalized pustular psoriasis [RCV002019101] Chr2:113062150 [GRCh38]
Chr2:113819727 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.188G>T (p.Gly63Val) single nucleotide variant Generalized pustular psoriasis [RCV001925062]|Inborn genetic diseases [RCV004631810] Chr2:113062196 [GRCh38]
Chr2:113819773 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.422G>A (p.Gly141Asp) single nucleotide variant Generalized pustular psoriasis [RCV001898127] Chr2:113062631 [GRCh38]
Chr2:113820208 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.115+4G>A single nucleotide variant Generalized pustular psoriasis [RCV001866294] Chr2:113060941 [GRCh38]
Chr2:113818518 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.29+15C>A single nucleotide variant Generalized pustular psoriasis [RCV002106369] Chr2:113059482 [GRCh38]
Chr2:113817059 [GRCh37]
Chr2:2q14.1		 likely benign
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 copy number gain 2q13q22.3 microduplication syndrome [RCV002226436] Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3		 pathogenic
NM_012275.3(IL36RN):c.165C>A (p.Ser55=) single nucleotide variant Generalized pustular psoriasis [RCV002125338] Chr2:113062173 [GRCh38]
Chr2:113819750 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.381C>T (p.Ala127=) single nucleotide variant Autoinflammatory syndrome [RCV002264460]|Generalized pustular psoriasis [RCV002111898] Chr2:113062590 [GRCh38]
Chr2:113820167 [GRCh37]
Chr2:2q14.1		 likely benign|uncertain significance
NM_012275.3(IL36RN):c.30-12C>T single nucleotide variant Generalized pustular psoriasis [RCV002097399] Chr2:113060840 [GRCh38]
Chr2:113818417 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.228G>A (p.Pro76=) single nucleotide variant Generalized pustular psoriasis [RCV002131520] Chr2:113062236 [GRCh38]
Chr2:113819813 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.244-9_244-6del deletion Generalized pustular psoriasis [RCV002173845] Chr2:113062443..113062446 [GRCh38]
Chr2:113820020..113820023 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.244-13C>A single nucleotide variant Generalized pustular psoriasis [RCV002215042] Chr2:113062440 [GRCh38]
Chr2:113820017 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.447C>T (p.Phe149=) single nucleotide variant Generalized pustular psoriasis [RCV002119938] Chr2:113062656 [GRCh38]
Chr2:113820233 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.387G>A (p.Gln129=) single nucleotide variant Generalized pustular psoriasis [RCV002118300] Chr2:113062596 [GRCh38]
Chr2:113820173 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.168C>T (p.Pro56=) single nucleotide variant Generalized pustular psoriasis [RCV002103466] Chr2:113062176 [GRCh38]
Chr2:113819753 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.244-15C>T single nucleotide variant Generalized pustular psoriasis [RCV002140870] Chr2:113062438 [GRCh38]
Chr2:113820015 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.115+15A>G single nucleotide variant Generalized pustular psoriasis [RCV002217222] Chr2:113060952 [GRCh38]
Chr2:113818529 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.243+16T>C single nucleotide variant Generalized pustular psoriasis [RCV002141290] Chr2:113062267 [GRCh38]
Chr2:113819844 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.244-13C>T single nucleotide variant Generalized pustular psoriasis [RCV002160663] Chr2:113062440 [GRCh38]
Chr2:113820017 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.29+3G>A single nucleotide variant Autoinflammatory syndrome [RCV002262009] Chr2:113059470 [GRCh38]
Chr2:113817047 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.*15dup duplication Autoinflammatory syndrome [RCV002264631] Chr2:113062686..113062687 [GRCh38]
Chr2:113820263..113820264 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.277A>G (p.Lys93Glu) single nucleotide variant Autoinflammatory syndrome [RCV002264632]|Generalized pustular psoriasis [RCV003095934] Chr2:113062486 [GRCh38]
Chr2:113820063 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.140A>T (p.Asn47Ile) single nucleotide variant Generalized pustular psoriasis [RCV002297734] Chr2:113062148 [GRCh38]
Chr2:113819725 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.29+7G>A single nucleotide variant Generalized pustular psoriasis [RCV002880496] Chr2:113059474 [GRCh38]
Chr2:113817051 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.165C>T (p.Ser55=) single nucleotide variant Generalized pustular psoriasis [RCV002736647] Chr2:113062173 [GRCh38]
Chr2:113819750 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.291C>A (p.Ser97Arg) single nucleotide variant Generalized pustular psoriasis [RCV002824348] Chr2:113062500 [GRCh38]
Chr2:113820077 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.30-2A>G single nucleotide variant Generalized pustular psoriasis [RCV002824537] Chr2:113060850 [GRCh38]
Chr2:113818427 [GRCh37]
Chr2:2q14.1		 likely pathogenic
NM_012275.3(IL36RN):c.313A>G (p.Met105Val) single nucleotide variant Inborn genetic diseases [RCV002784334]|not provided [RCV003481443] Chr2:113062522 [GRCh38]
Chr2:113820099 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.305G>A (p.Arg102Gln) single nucleotide variant Generalized pustular psoriasis [RCV003080633] Chr2:113062514 [GRCh38]
Chr2:113820091 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.366C>T (p.Cys122=) single nucleotide variant Generalized pustular psoriasis [RCV002982645] Chr2:113062575 [GRCh38]
Chr2:113820152 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.282A>G (p.Glu94=) single nucleotide variant Generalized pustular psoriasis [RCV002876659] Chr2:113062491 [GRCh38]
Chr2:113820068 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.91C>A (p.Leu31Met) single nucleotide variant Generalized pustular psoriasis [RCV002573009] Chr2:113060913 [GRCh38]
Chr2:113818490 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.17C>T (p.Ala6Val) single nucleotide variant Generalized pustular psoriasis [RCV003081839] Chr2:113059455 [GRCh38]
Chr2:113817032 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.123G>C (p.Glu41Asp) single nucleotide variant Generalized pustular psoriasis [RCV002828060] Chr2:113062131 [GRCh38]
Chr2:113819708 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.307C>A (p.Arg103=) single nucleotide variant Generalized pustular psoriasis [RCV002721163] Chr2:113062516 [GRCh38]
Chr2:113820093 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.322A>T (p.Thr108Ser) single nucleotide variant Generalized pustular psoriasis [RCV003047718] Chr2:113062531 [GRCh38]
Chr2:113820108 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.420_426del (p.Gly141fs) deletion Generalized pustular psoriasis [RCV002599669] Chr2:113062626..113062632 [GRCh38]
Chr2:113820203..113820209 [GRCh37]
Chr2:2q14.1		 pathogenic
NM_012275.3(IL36RN):c.435C>T (p.Pro145=) single nucleotide variant Generalized pustular psoriasis [RCV003061845] Chr2:113062644 [GRCh38]
Chr2:113820221 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.244-17C>T single nucleotide variant Generalized pustular psoriasis [RCV002600451] Chr2:113062436 [GRCh38]
Chr2:113820013 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.30-13C>T single nucleotide variant Generalized pustular psoriasis [RCV002770163] Chr2:113060839 [GRCh38]
Chr2:113818416 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.244-10C>A single nucleotide variant Generalized pustular psoriasis [RCV002676822] Chr2:113062443 [GRCh38]
Chr2:113820020 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.350C>A (p.Pro117Gln) single nucleotide variant Generalized pustular psoriasis [RCV002583708] Chr2:113062559 [GRCh38]
Chr2:113820136 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.215T>G (p.Val72Gly) single nucleotide variant Inborn genetic diseases [RCV002677689] Chr2:113062223 [GRCh38]
Chr2:113819800 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.130G>T (p.Val44Leu) single nucleotide variant Generalized pustular psoriasis [RCV002654572] Chr2:113062138 [GRCh38]
Chr2:113819715 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.418G>A (p.Gly140Ser) single nucleotide variant Generalized pustular psoriasis [RCV002654918] Chr2:113062627 [GRCh38]
Chr2:113820204 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.338C>A (p.Ser113Ter) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV003328076] Chr2:113062547 [GRCh38]
Chr2:113820124 [GRCh37]
Chr2:2q14.1		 likely pathogenic
NM_012275.3(IL36RN):c.115+118G>A single nucleotide variant not specified [RCV003397043] Chr2:113061055 [GRCh38]
Chr2:113818632 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.-27-49C>G single nucleotide variant not specified [RCV003391227] Chr2:113059363 [GRCh38]
Chr2:113816940 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.-27-47A>C single nucleotide variant not specified [RCV003391228] Chr2:113059365 [GRCh38]
Chr2:113816942 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.29+137C>T single nucleotide variant not specified [RCV003397042] Chr2:113059604 [GRCh38]
Chr2:113817181 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.30-1G>T single nucleotide variant Generalized pustular psoriasis [RCV003528986] Chr2:113060851 [GRCh38]
Chr2:113818428 [GRCh37]
Chr2:2q14.1		 likely pathogenic
NM_012275.3(IL36RN):c.97G>A (p.Ala33Thr) single nucleotide variant Generalized pustular psoriasis [RCV003527685] Chr2:113060919 [GRCh38]
Chr2:113818496 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.116-6C>T single nucleotide variant Generalized pustular psoriasis [RCV003528582] Chr2:113062118 [GRCh38]
Chr2:113819695 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.144G>C (p.Arg48=) single nucleotide variant Generalized pustular psoriasis [RCV003828365] Chr2:113062152 [GRCh38]
Chr2:113819729 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.115+14C>T single nucleotide variant Generalized pustular psoriasis [RCV003529019] Chr2:113060951 [GRCh38]
Chr2:113818528 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.116-87T>C single nucleotide variant not specified [RCV003490295] Chr2:113062037 [GRCh38]
Chr2:113819614 [GRCh37]
Chr2:2q14.1		 benign
NM_012275.3(IL36RN):c.210T>C (p.Cys70=) single nucleotide variant Generalized pustular psoriasis [RCV003811452] Chr2:113062218 [GRCh38]
Chr2:113819795 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.441A>G (p.Thr147=) single nucleotide variant Generalized pustular psoriasis [RCV003852171] Chr2:113062650 [GRCh38]
Chr2:113820227 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.115+9T>C single nucleotide variant Generalized pustular psoriasis [RCV003824117] Chr2:113060946 [GRCh38]
Chr2:113818523 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.116-11C>T single nucleotide variant Generalized pustular psoriasis [RCV003642351] Chr2:113062113 [GRCh38]
Chr2:113819690 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.215T>C (p.Val72Ala) single nucleotide variant Generalized pustular psoriasis [RCV003641342] Chr2:113062223 [GRCh38]
Chr2:113819800 [GRCh37]
Chr2:2q14.1		 uncertain significance
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 copy number loss not specified [RCV003986380] Chr2:106755586..134302739 [GRCh37]
Chr2:2q12.2-21.2		 pathogenic
GRCh37/hg19 2q13(chr2:113717386-113892480)x1 copy number loss not specified [RCV003986332] Chr2:113717386..113892480 [GRCh37]
Chr2:2q13		 uncertain significance
NM_012275.3(IL36RN):c.148C>T (p.Leu50=) single nucleotide variant Generalized pustular psoriasis [RCV003641454] Chr2:113062156 [GRCh38]
Chr2:113819733 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.42G>A (p.Ser14=) single nucleotide variant Generalized pustular psoriasis [RCV003640817] Chr2:113060864 [GRCh38]
Chr2:113818441 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.184C>T (p.Gln62Ter) single nucleotide variant Generalized pustular psoriasis [RCV003641134] Chr2:113062192 [GRCh38]
Chr2:113819769 [GRCh37]
Chr2:2q14.1		 pathogenic
NM_012275.3(IL36RN):c.30-18C>A single nucleotide variant Generalized pustular psoriasis [RCV003641276] Chr2:113060834 [GRCh38]
Chr2:113818411 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.4G>T (p.Val2Phe) single nucleotide variant not provided [RCV004790994] Chr2:113059442 [GRCh38]
Chr2:113817019 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.434C>T (p.Pro145Leu) single nucleotide variant Inborn genetic diseases [RCV004405282] Chr2:113062643 [GRCh38]
Chr2:113820220 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.179G>T (p.Gly60Val) single nucleotide variant Acrodermatitis continua suppurativa of Hallopeau [RCV004821203] Chr2:113062187 [GRCh38]
Chr2:113819764 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.273del (p.Ala92fs) deletion Generalized pustular psoriasis [RCV005196694] Chr2:113062482 [GRCh38]
Chr2:113820059 [GRCh37]
Chr2:2q14.1		 pathogenic
NM_012275.3(IL36RN):c.164C>G (p.Ser55Cys) single nucleotide variant Generalized pustular psoriasis [RCV005173238] Chr2:113062172 [GRCh38]
Chr2:113819749 [GRCh37]
Chr2:2q14.1		 uncertain significance
NM_012275.3(IL36RN):c.237A>C (p.Thr79=) single nucleotide variant Generalized pustular psoriasis [RCV005206469] Chr2:113062245 [GRCh38]
Chr2:113819822 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.16del (p.Ala6fs) deletion Generalized pustular psoriasis [RCV005118047] Chr2:113059451 [GRCh38]
Chr2:113817028 [GRCh37]
Chr2:2q14.1		 pathogenic
NM_012275.3(IL36RN):c.150G>A (p.Leu50=) single nucleotide variant Generalized pustular psoriasis [RCV005163267] Chr2:113062158 [GRCh38]
Chr2:113819735 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.372G>A (p.Val124=) single nucleotide variant Generalized pustular psoriasis [RCV005118504] Chr2:113062581 [GRCh38]
Chr2:113820158 [GRCh37]
Chr2:2q14.1		 likely benign
NM_012275.3(IL36RN):c.318G>A (p.Gly106=) single nucleotide variant Generalized pustular psoriasis [RCV005184550] Chr2:113062527 [GRCh38]
Chr2:113820104 [GRCh37]
Chr2:2q14.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2412
Count of miRNA genes:833
Interacting mature miRNAs:989
Transcripts:ENST00000346807, ENST00000393200, ENST00000437409, ENST00000514072
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
597179883GWAS1275957_Hinterleukin-1 receptor antagonist protein measurement QTL GWAS1275957 (human)2e-41interleukin-1 receptor antagonist protein measurement2113060543113060544Human
596965680GWAS1085199_Hpsoriasis QTL GWAS1085199 (human)0.000007psoriasis2113060943113060944Human
597328381GWAS1424455_Hpsoriasis 14, pustular QTL GWAS1424455 (human)1e-18psoriasis 14, pustular2113060943113060944Human
597153823GWAS1249897_Hpsoriasis QTL GWAS1249897 (human)0.000007psoriasis2113060943113060944Human
597179568GWAS1275642_Hmetabolite measurement QTL GWAS1275642 (human)9e-09metabolite measurement2113064579113064580Human

Markers in Region
D2S2806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372113,817,183 - 113,817,286UniSTSGRCh37
Build 362113,533,654 - 113,533,757RGDNCBI36
Celera2107,202,352 - 107,202,455RGD
Cytogenetic Map2q14UniSTS
HuRef2106,272,095 - 106,272,198UniSTS
TNG Radiation Hybrid Map264584.0UniSTS
Stanford-G3 RH Map24801.0UniSTS
NCBI RH Map2848.7UniSTS


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
766 1365 1950 1270 2722 1005 1357 6 244 631 122 1772 3386 3361 11 1638 388 1106 1089 134

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF201830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF216693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX069307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY972853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BN000002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000346807   ⟹   ENSP00000259212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2113,058,638 - 113,064,748 (+)Ensembl
Ensembl Acc Id: ENST00000393200   ⟹   ENSP00000376896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2113,059,198 - 113,064,744 (+)Ensembl
Ensembl Acc Id: ENST00000437409   ⟹   ENSP00000409262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2113,059,387 - 113,062,677 (+)Ensembl
Ensembl Acc Id: ENST00000514072   ⟹   ENSP00000475308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2113,062,520 - 113,065,382 (+)Ensembl
RefSeq Acc Id: NM_012275   ⟹   NP_036407
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382113,059,198 - 113,064,744 (+)NCBI
GRCh372113,816,215 - 113,822,321 (+)ENTREZGENE
Build 362113,533,156 - 113,538,792 (+)NCBI Archive
HuRef2106,271,122 - 106,277,233 (+)ENTREZGENE
CHM1_12113,820,836 - 113,826,472 (+)NCBI
T2T-CHM13v2.02113,485,726 - 113,491,272 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173170   ⟹   NP_775262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382113,058,638 - 113,064,744 (+)NCBI
GRCh372113,816,215 - 113,822,321 (+)ENTREZGENE
Build 362113,532,686 - 113,538,792 (+)NCBI Archive
HuRef2106,271,122 - 106,277,233 (+)ENTREZGENE
CHM1_12113,820,366 - 113,826,472 (+)NCBI
T2T-CHM13v2.02113,485,166 - 113,491,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443918   ⟹   XP_047299874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382113,058,638 - 113,064,744 (+)NCBI
RefSeq Acc Id: XM_054341375   ⟹   XP_054197350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02113,485,166 - 113,491,272 (+)NCBI
RefSeq Acc Id: NP_775262   ⟸   NM_173170
- UniProtKB: Q56AT9 (UniProtKB/Swiss-Prot),   A8K2I4 (UniProtKB/Swiss-Prot),   Q7RTZ6 (UniProtKB/Swiss-Prot),   Q9UBH0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036407   ⟸   NM_012275
- UniProtKB: Q56AT9 (UniProtKB/Swiss-Prot),   A8K2I4 (UniProtKB/Swiss-Prot),   Q7RTZ6 (UniProtKB/Swiss-Prot),   Q9UBH0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000259212   ⟸   ENST00000346807
Ensembl Acc Id: ENSP00000376896   ⟸   ENST00000393200
Ensembl Acc Id: ENSP00000475308   ⟸   ENST00000514072
Ensembl Acc Id: ENSP00000409262   ⟸   ENST00000437409
RefSeq Acc Id: XP_047299874   ⟸   XM_047443918
- Peptide Label: isoform X1
- UniProtKB: Q9UBH0 (UniProtKB/Swiss-Prot),   Q56AT9 (UniProtKB/Swiss-Prot),   A8K2I4 (UniProtKB/Swiss-Prot),   Q7RTZ6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054197350   ⟸   XM_054341375
- Peptide Label: isoform X1
- UniProtKB: Q9UBH0 (UniProtKB/Swiss-Prot),   Q56AT9 (UniProtKB/Swiss-Prot),   A8K2I4 (UniProtKB/Swiss-Prot),   Q7RTZ6 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBH0-F1-model_v2 AlphaFold Q9UBH0 1-155 view protein structure

Promoters
RGD ID:6861380
Promoter ID:EPDNEW_H3855
Type:initiation region
Name:IL36RN_2
Description:interleukin 36 receptor antagonist
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3856  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382113,058,654 - 113,058,714EPDNEW
RGD ID:6861382
Promoter ID:EPDNEW_H3856
Type:multiple initiation site
Name:IL36RN_1
Description:interleukin 36 receptor antagonist
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3855  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382113,059,198 - 113,059,258EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15561 AgrOrtholog
COSMIC IL36RN COSMIC
Ensembl Genes ENSG00000136695 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000346807 ENTREZGENE
  ENST00000346807.7 UniProtKB/Swiss-Prot
  ENST00000393200 ENTREZGENE
  ENST00000393200.7 UniProtKB/Swiss-Prot
  ENST00000437409.1 UniProtKB/TrEMBL
  ENST00000437409.2 UniProtKB/Swiss-Prot
  ENST00000514072.1 UniProtKB/TrEMBL
Gene3D-CATH 2.80.10.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136695 GTEx
HGNC ID HGNC:15561 ENTREZGENE
Human Proteome Map IL36RN Human Proteome Map
InterPro IL-1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL-1_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL-1RA/IL-36 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL1/FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26525 UniProtKB/Swiss-Prot
NCBI Gene 26525 ENTREZGENE
OMIM 605507 OMIM
PANTHER PTHR10078 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10078:SF32 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38388 PharmGKB
PRINTS INTERLEUKIN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTRLEUKIN1X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE INTERLEUKIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K2I4 ENTREZGENE
  C9JTH1_HUMAN UniProtKB/TrEMBL
  I36RA_HUMAN UniProtKB/Swiss-Prot
  Q56AT9 ENTREZGENE
  Q7RTZ6 ENTREZGENE
  Q9UBH0 ENTREZGENE
  U3KPW9_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K2I4 UniProtKB/Swiss-Prot
  Q56AT9 UniProtKB/Swiss-Prot
  Q7RTZ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 IL36RN  interleukin 36 receptor antagonist  IL1F5  interleukin 1 family, member 5 (delta)  Symbol and/or name change 5135510 APPROVED