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

Editor(s): Francesca CAPON   

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Total current number of sequence variants for IL36RN : 24

*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 4
c.136C>T
p.(Pro46Ser)
P46S
Likely pathogenicTo be validated
 2019-05-13
exon 5
c.436A>G
p.(Ile146Val)
I146V
Uncertain significance (VOUS)To be validated
 2019-05-13
3UT
c.*43G>A
p.?
*43G>A
Not classifiedTo be validated
 2019-05-13
exon 4
c.200G>T
p.(Cys67Phe)
C67F
Not classifiedTo be validated
 2019-04-17
exon 3
c.41C>A
p.(Ser14X)
S14X
Not classifiedTo be validated
 2017-08-31
exon 2
c.4G>T
p.(Val2Phe)
V2F
Not classifiedTo be validated
 2017-08-31
exon 4
c.125T>A
p.(Ile42Asn)
I42N
Not classifiedTo be validated
 2016-12-21
exon 5
c.334G>A
p.(Glu112Lys)
E112K
Not classifiedTo be validated
 2015-03-18
exon 3
c.62T>C
p.(Leu21Pro)
L21P
Not classifiedTo be validated
 2015-02-18
exon 5
c.305G>A
p.(Arg102Gln)
R102Q
Not classifiedTo be validated
 2013-12-23
exon 4
c.140A>G
p.(Asn47Ser)
N47S
Not classifiedTo be validated
 2013-08-19
exon 5
c.420_426del
p.(Gly141Metfs*29)
G141Mfs*29
Not classifiedTo be validated
 2013-07-01
exon 4
c.227C>T
p.(Pro76Leu)
P76L
Not classifiedTo be validated
2013-06-14
exon 3
c.95A>G
p.(His32Arg)
H32R
Not classifiedTo be validated
 2013-06-14
exon 5
c.280G>T
p.(Glu94*)
E94X
Not classifiedTo be validated
 2013-06-14
exon 5
c.368C>T
p.(Thr123Met)
T123M
Not classifiedTo be validated
 2013-06-03
exon 5
c.304C>T
p.(Arg102Trp)
R102W
Not classifiedTo be validated
 2013-03-21
exon 3
c.104A>G
p.(Lys35Arg)
K35R
Not classifiedTo be validated
 2013-03-21
exon 5
c.368C>G
p.(Thr123Arg)
T123R
Not classifiedTo be validated
 2012-08-23
intron 3
c.115+6T>C
p.(Arg10Argfs*1)
c.115+6T>C
Not classifiedTo be validated
2012-08-23
exon 2
c.28C>T
p.(Arg10*)
R10X
Not classifiedTo be validated
 2012-05-21
exon 3
c.80T>C
p.(Leu27Pro)
L27P
Not classifiedTo be validated
 2012-05-21
exon 4
c.142C>T
p.(Arg48Trp)
R48W
Not classifiedTo be validated
 2012-05-21
exon 5
c.338C>T
p.(Ser113Leu)
S113L
Not classifiedTo be validated
 2012-05-21