NLRC4 (NM_021209.4) sequence variants
(CLAN, IPAF, CLAN1, CLANA, CLANB, CLANC, CLAND, CARD12, CLR2.1)

Editor(s): Guilaine BOURSIER   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

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Total current number of sequence variants for NLRC4 : 39

*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 3
c.188_189insT
p.(Glu64Argfs*4)
E64Rfs*4
Likely pathogenicTo be validated
 2019-05-13 
exon 3
c.208C>T
p.(Leu70Phe)
L70F
Likely pathogenicTo be validated
 2019-07-11 
exon 4
c.283G>T
p.(Glu95*)
E95*
Not classifiedTo be validated
 2019-05-13 
exon 4
c.371T>C
p.(Ile124Thr)
I124T
Uncertain significance (VUS)To be validated
 2020-05-20 
exon 4
c.398C>T
p.(Thr133Ile)
T133I
Likely pathogenicTo be validated
 2024-02-21 
exon 4
c.478G>A
p.(Ala160Thr)
A160T
Uncertain significance (VUS)To be validated
 2019-07-162021-11-21
exon 4
c.493T>C
p.(Cys165Arg)
C165R
Not classifiedTo be validated
 2015-07-142016-12-26
exon 4
c.512C>T
p.(Ser171Phe)
S171F
Not classifiedTo be validated
 2017-02-272021-11-05
exon 4
c.514G>A
p.(Gly172Ser)
G172S
Not classifiedTo be validated
 2021-01-11 
exon 4
c.529A>G
p.(Thr177Ala)
T177A
Not classifiedTo be validated
 2017-02-22 
exon 4
c.530C>G
p.(Thr177Ser)
T177S
PathogenicTo be validated
 2019-05-13 
exon 4
c.541C>T
p.(Arg181*)
R181X
Uncertain significance (VUS)To be validated
 2022-02-21 
exon 4
c.611G>A
p.(Arg204His)
R204H
Not classifiedTo be validated
 2018-12-272018-12-28
exon 4
c.620G>A
p.(Arg207Lys)
R207K
Likely pathogenicTo be validated
 2022-02-212024-03-16
exon 4
c.847T>G
p.(Cys283Gly)
C283G
Not classifiedTo be validated
 2019-05-13 
exon 4
c.860T>C
p.(Ile287Thr)
I287T
Not classifiedTo be validated
 2018-12-272018-12-28
exon 4
c.871G>A
p.(Gly291Ser)
G291S
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 4
c.928C>T
p.(Arg310*)
R310*
Not classifiedTo be validated
 2019-05-13 
exon 4
c.1009A>T
p.(Thr337Ser)
T337S
Not classifiedTo be validated
 2014-11-042014-11-20
exon 4
c.1010C>A
p.(Thr337Asn)
T337N
PathogenicTo be validated
 2019-05-132021-02-02
exon 4
c.1016T>C
p.(Leu339Pro)
L339P
Likely pathogenicTo be validated
 2019-11-182022-04-20
exon 4
c.1021G>C
p.(Val341Leu)
V341L
Not classifiedTo be validated
 2018-12-272018-12-28
exon 4
c.1022T>C
p.(Val341Ala)
V341A
Not classifiedTo be validated
 2014-11-042014-11-20
exon 4
c.1028T>A
p.(Ile343Asn)
I343N
Likely pathogenicTo be validated
 2023-05-12 
exon 4
c.1160T>C
p.(Ile387Thr)
I387T
Uncertain significance (VUS)To be validated
 2020-08-25 
exon 4
c.1174_1176delCAC
p.(His392del)
H392del
Not classifiedTo be validated
 2018-12-272018-12-28
exon 4
c.1328A>C
p.(His443Pro)
H443P
Not classifiedTo be validated
 2014-11-202014-11-20
exon 4
c.1329C>G
p.(His443Gln)
H443Q
Likely pathogenicTo be validated
 2022-04-26 
exon 4
c.1333T>C
p.(Ser445Pro)
S445P
Not classifiedTo be validated
 2015-11-042023-02-22
exon 4
c.1964G>C
p.(Trp655Ser)
W655S
Likely pathogenicTo be validated
 2023-08-14 
exon 4
c.1965G>C
p.(Trp655Cys)
W655C
Not classifiedTo be validated
 2018-07-26 
exon 4
c.1970A>T
p.(Gln657Leu)
Q657L
Likely pathogenicTo be validated
 2020-01-28 
exon 4
c.2255C>T
p.(Pro752Leu)
P752L
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 5
c.2260_2350+2del
p.(Gly753_Leu783del)
delexon5
Not classifiedTo be validated
 2020-08-282020-09-23
exon 5
c.2325G>C
p.(Met775Ile)
M775I
Not classifiedTo be validated
 2020-01-28 
exon 6
c.2357G>T
p.(Gly786Val)
G786V
Likely benignTo be validated
 2019-07-16 
exon 8
c.2638C>G
p.(Gln880Glu)
Q880E
Not classifiedTo be validated
 2015-12-232015-12-24
exon 8
c.2668T>C
p.(Cys890Arg)
C890R
Uncertain significance (VUS)To be validated
 2022-02-21 
exon 9
c.2785G>T
p.(Ala929Ser)
A929S
Likely benignTo be validated
 2019-07-16