IL36RN (NM_173170.1) sequence variants
(IL1F5/FIL1D/IL1HY1/IL1RP3)

Editor(s): Francesca CAPON   

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ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

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Total current number of sequence variants for IL36RN : 32

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 2
c.4G>T
p.(Val2Phe)
V2F
Not classifiedTo be validated
 2017-08-31 
exon 2
c.28C>T
p.(Arg10*)
R10X
Not classifiedTo be validated
 2012-05-212013-06-14
exon 3
c.41C>A
p.(Ser14X)
S14X
Not classifiedTo be validated
 2017-08-31 
exon 3
c.62T>C
p.(Leu21Pro)
L21P
Not classifiedTo be validated
 2015-02-18 
exon 3
c.80T>C
p.(Leu27Pro)
L27P
Not classifiedTo be validated
 2012-05-212013-02-05
exon 3
c.95A>G
p.(His32Arg)
H32R
Not classifiedTo be validated
 2013-06-14 
exon 3
c.104A>G
p.(Lys35Arg)
K35R
Not classifiedTo be validated
 2013-03-21 
intron 3
c.115+6T>C
p.(Arg10Argfs*1)
c.115+6T>C
Not classifiedTo be validated
 2012-08-232013-06-14
exon 4
c.125T>A
p.(Ile42Asn)
I42N
Not classifiedTo be validated
 2016-12-21 
exon 4
c.130G>A
p.(Val44Met)
V44M
Not classifiedTo be validated
 2020-01-28 
exon 4
c.136C>T
p.(Pro46Ser)
P46S
Likely pathogenicTo be validated
 2019-05-13 
exon 4
c.140A>G
p.(Asn47Ser)
N47S
Not classifiedTo be validated
 2013-08-19 
exon 4
c.142C>T
p.(Arg48Trp)
R48W
Not classifiedTo be validated
 2012-05-212013-02-05
exon 4
c.143G>A
p.(Arg48Gln)
G48Q
Likely pathogenicTo be validated
 2021-05-27 
exon 4
c.169G>A
p.(Val57Ile)
V57I
Likely benignTo be validated
 2020-01-282021-05-10
exon 4
c.200G>T
p.(Cys67Phe)
C67F
Not classifiedTo be validated
 2019-04-17 
exon 4
c.227C>T
p.(Pro76Leu)
P76L
Not classifiedTo be validated
 2013-06-142021-02-11
exon 5
c.245C>T
p.(Pro82Leu)
P82L
Not classifiedTo be validated
 2021-08-26 
exon 5
c.258G>A
p.(Met86Ile)
M86I
Likely benignTo be validated
 2020-01-28 
exon 5
c.280G>T
p.(Glu94*)
E94X
Not classifiedTo be validated
 2013-06-14 
exon 5
c.295_300delACCTTC
p.(Thr99_Phe100del)
T99_F100del
Likely pathogenicTo be validated
 2020-08-28 
exon 5
c.304C>T
p.(Arg102Trp)
R102W
Not classifiedTo be validated
 2013-03-21 
exon 5
c.305G>A
p.(Arg102Gln)
R102Q
Not classifiedTo be validated
 2013-12-23 
exon 5
c.308G>A
p.(Arg103Gln)
R103Q
Uncertain significance (VUS)To be validated
 2020-08-28 
exon 5
c.334G>A
p.(Glu112Lys)
E112K
Not classifiedTo be validated
 2015-03-182019-01-15
exon 5
c.338C>T
p.(Ser113Leu)
S113L
Not classifiedTo be validated
 2012-05-212013-06-14
exon 5
c.338C>A
p.(Ser113*)
S113X
Likely pathogenicTo be validated
 2020-08-28 
exon 5
c.368C>T
p.(Thr123Met)
T123M
Not classifiedTo be validated
 2013-06-03 
exon 5
c.368C>G
p.(Thr123Arg)
T123R
Not classifiedTo be validated
 2012-08-23 
exon 5
c.420_426del
p.(Gly141Metfs*29)
G141Mfs*29
Not classifiedTo be validated
 2013-07-012013-07-01
exon 5
c.436A>G
p.(Ile146Val)
I146V
Uncertain significance (VUS)To be validated
 2019-05-132019-05-29
3UT
c.*43G>A
p.?
*43G>A
Not classifiedTo be validated
 2019-05-132019-05-14