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

Editor(s): Neil ROMBERG   

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Total current number of sequence variants for NLRC4 : 25

*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.478G>A
p.(Ala160Thr)
A160T
Likely benignTo be validated
 2019-07-16
exon 4
c.493T>C
p.(Cys165Arg)
C165R
Not classifiedTo be validated
 2015-07-14
exon 4
c.512C>T
p.(Ser171Phe)
S171F
Not classifiedTo be validated
 2017-02-27
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.611G>A
p.(Arg204His)
R204H
Not classifiedTo be validated
 2018-12-27
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
 2018-12-27
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
 2014-11-04
exon 4
c.1010C>A
p.(Thr337Asn)
T337N
PathogenicTo be validated
 2019-05-13
exon 4
c.1021G>C
p.(Val341Leu)
V341L
Not classifiedTo be validated
 2018-12-27
exon 4
c.1022T>C
p.(Val341Ala)
V341A
Not classifiedTo be validated
 2014-11-04
exon 4
c.1174_1176delCAC
p.(His392del)
H392del
Not classifiedTo be validated
 2018-12-27
exon 4
c.1328A>C
p.(His443Pro)
H443P
Not classifiedTo be validated
 2014-11-20
exon 4
c.1333T>C
p.(Ser445Pro)
S445P
Not classifiedTo be validated
 2015-11-04
exon 4
c.1965G>C
p.(Trp655Cys)
W655C
Not classifiedTo be validated
 2018-07-26
exon 4
c.2255C>T
p.(Pro752Leu)
P752L
Uncertain significance (VUS)To be validated
 2019-05-13
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
 2015-12-23
exon 9
c.2785G>T
p.(Ala929Ser)
A929S
Likely benignTo be validated
 2019-07-16