Full data view for gene IL36RN

Information The variants shown are described using the NM_173170.1 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-27-167T>C r.(=) p.(=) Unknown - likely benign g.113816822T>C - IL36RN(NM_012275.2):c.-28+4T>C - IL36RN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6C>T r.(?) p.(Val2=) Unknown - benign g.113817021C>T g.113059444C>T IL36RN(NM_012275.2):c.6C>T (p.V2=) - IL36RN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.28C>T r.28c>u p.Arg10* Parent #1 - likely pathogenic (recessive) g.113817043C>T g.113059466C>T - - IL36RN_000002 - PubMed: Farooq 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PSORS JPP14 PubMed: Farooq 2013 - - - Japan - - - - - 1 Johan den Dunnen
?/. - c.52G>T r.(?) p.(Val18Leu) Unknown - VUS g.113818451G>T - - - IL36RN_000016 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/? 3 c.80T>C r.80u>c p.Leu27Pro Both (homozygous) - pathogenic g.113818479T>C g.113060902T>C - - IL36RN_000004 homozygosity mapping, candidate gene scan PubMed: Marrakchi 2011, {OMIM:605507:0001} - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - PSORS - PubMed: Marrakchi 2011 5-generation family, 3 affecteds (M) M yes Tunisia - - - - - 3 Johan den Dunnen
+/? 5 c.80T>C r.80u>c p.Leu27Pro Both (homozygous) - pathogenic g.113818479T>C g.113060902T>C - - IL36RN_000004 - PubMed: Marrakchi 2011, OMIM:var0001 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - PSORS - PubMed: Marrakchi 2011 4-generation family, 4 affecteds (F) F yes Tunisia - - - - - 4 Johan den Dunnen
+/? 3 c.80T>C r.80u>c p.Leu27Pro Both (homozygous) - pathogenic g.113818479T>C g.113060902T>C - - IL36RN_000004 - PubMed: Marrakchi 2011, OMIM:var0001 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - PSORS - PubMed: Marrakchi 2011 5-generation family, 1 affected M yes Tunisia - - - - - 1 Johan den Dunnen
+/? 3 c.80T>C r.80u>c p.Leu27Pro Both (homozygous) - pathogenic g.113818479T>C g.113060902T>C - - IL36RN_000004 - PubMed: Marrakchi 2011, OMIM:var0001 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - PSORS - PubMed: Marrakchi 2011 5-generation family, 1 affected M yes Tunisia - - - - - 1 Johan den Dunnen
+/? 3 c.80T>C r.80u>c p.Leu27Pro Both (homozygous) - pathogenic g.113818479T>C g.113060902T>C - - IL36RN_000004 - PubMed: Marrakchi 2011, {OMIM:605507:0001} - - Germline ? - - - - DNA SEQ - - PSORS - PubMed: Marrakchi 2011 2-generation family, 1 affected M ? Tunisia - - - - - 1 Johan den Dunnen
+/. - c.80T>C r.(?) p.(Leu27Pro) Unknown - pathogenic g.113818479T>C g.113060902T>C IL36RN(NM_012275.2):c.80T>C (p.L27P) - IL36RN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108C>T r.(?) p.(Val36=) Unknown - likely benign g.113818507C>T - IL36RN(NM_012275.2):c.108C>T (p.V36=) - IL36RN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.115+6T>C r.30_115del p.Met11* Parent #1 - likely pathogenic (recessive) g.113818520T>C g.113060943T>C - - IL36RN_000001 - PubMed: Farooq 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PSORS JPP12 PubMed: Farooq 2013 - - - Japan - - - - - 1 Johan den Dunnen
?/. - c.115+6T>C r.(=) p.(=) Unknown - VUS g.113818520T>C g.113060943T>C IL36RN(NM_012275.2):c.115+6T>C - IL36RN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.115+6T>C r.30_115del p.Met11* Parent #2 - likely pathogenic (recessive) g.113818520T>C g.113060943T>C - - IL36RN_000001 - PubMed: Farooq 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PSORS JPP14 PubMed: Farooq 2013 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.115+6T>C r.(=) p.(=) Unknown - pathogenic g.113818520T>C - IL36RN(NM_012275.2):c.115+6T>C - IL36RN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.116-116C>T r.(=) p.(=) Unknown - benign g.113819585C>T g.113062008C>T IL36RN(NM_012275.2):c.116-116C>T - IL36RN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136C>T r.(?) p.(Pro46Ser) Unknown - VUS g.113819721C>T - IL36RN(NM_012275.3):c.136C>T (p.P46S) - IL36RN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140A>G r.(?) p.(Asn47Ser) Unknown - likely benign g.113819725A>G g.113062148A>G IL36RN(NM_012275.2):c.140A>G (p.N47S) - IL36RN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.140A>G r.(?) p.(Asn47Ser) Unknown - benign g.113819725A>G g.113062148A>G - - IL36RN_000010 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.061 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. - c.142C>T r.(?) p.(Arg48Trp) Unknown - pathogenic g.113819727C>T g.113062150C>T IL36RN(NM_012275.2):c.142C>T (p.R48W) - IL36RN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.142C>T r.(?) p.(Arg48Trp) Unknown - pathogenic g.113819727C>T g.113062150C>T IL36RN(NM_012275.2):c.142C>T (p.R48W) - IL36RN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169G>A r.(?) p.(Val57Ile) Unknown - likely benign g.113819754G>A - IL36RN(NM_012275.2):c.169G>A (p.V57I) - IL36RN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169G>A r.(?) p.(Val57Ile) Unknown - VUS g.113819754G>A - - - IL36RN_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.227C>T r.(?) p.(Pro76Leu) Unknown - VUS g.113819812C>T g.113062235C>T IL36RN(NM_012275.2):c.227C>T (p.P76L) - IL36RN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.304C>T r.(?) p.(Arg102Trp) Parent #1 - pathogenic g.113820090C>T g.113062513C>T - - IL36RN_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199932303 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.306G>A r.(?) p.(Arg102=) Unknown - likely benign g.113820092G>A - IL36RN(NM_012275.2):c.306G>A (p.R102=) - IL36RN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.113820124C>T g.113062547C>T IL36RN(NM_012275.2):c.338C>T (p.S113L), IL36RN(NM_012275.3):c.338C>T (p.S113L), IL36RN(NM_173170.1):c.338C>T (p.S113L) - IL36RN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - VUS g.113820124C>T g.113062547C>T IL36RN(NM_012275.2):c.338C>T (p.S113L), IL36RN(NM_012275.3):c.338C>T (p.S113L), IL36RN(NM_173170.1):c.338C>T (p.S113L) - IL36RN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - likely pathogenic g.113820124C>T g.113062547C>T IL36RN(NM_012275.2):c.338C>T (p.S113L), IL36RN(NM_012275.3):c.338C>T (p.S113L), IL36RN(NM_173170.1):c.338C>T (p.S113L) - IL36RN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.113820124C>T g.113062547C>T IL36RN(NM_012275.2):c.338C>T (p.S113L), IL36RN(NM_012275.3):c.338C>T (p.S113L), IL36RN(NM_173170.1):c.338C>T (p.S113L) - IL36RN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338C>T r.(?) p.(Ser113Leu) Parent #1 - VUS g.113820124C>T g.113062547C>T - - IL36RN_000008 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144478519 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.113820124C>T - IL36RN(NM_012275.2):c.338C>T (p.S113L), IL36RN(NM_012275.3):c.338C>T (p.S113L), IL36RN(NM_173170.1):c.338C>T (p.S113L) - IL36RN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350C>T r.(?) p.(Pro117Leu) Unknown - VUS g.113820136C>T - IL36RN(NM_012275.3):c.350C>T (p.P117L) - IL36RN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.368C>G r.501c>g p.(Thr123Arg) Parent #2 - likely pathogenic (recessive) g.113820154C>G g.113062577C>G - - IL36RN_000003 - PubMed: Farooq 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PSORS JPP12 PubMed: Farooq 2013 - - - Japan - - - - - 1 Johan den Dunnen
-/. - c.369G>C r.(?) p.(Thr123=) Unknown - benign g.113820155G>C g.113062578G>C IL36RN(NM_012275.2):c.369G>C (p.T123=) - IL36RN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447C>T r.(?) p.(Phe149=) Unknown - likely benign g.113820233C>T - IL36RN(NM_012275.2):c.447C>T (p.F149=) - IL36RN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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