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 : 21

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

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
T337N
exon 4
c.1010C>A
p.(Thr337Asn)PathogenicTo be validated
 2019-05-13
E64Rfs*4
exon 3
c.188_189insT
p.(Glu64Argfs*4)Likely pathogenicTo be validated
 2019-05-13
P752L
exon 4
c.2255C>T
p.(Pro752Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
T177S
exon 4
c.530C>G
p.(Thr177Ser)PathogenicTo be validated
 2019-05-13
G291S
exon 4
c.871G>A
p.(Gly291Ser)Uncertain significance (VOUS)To be validated
 2019-05-13
R310*
exon 4
c.928C>T
p.(Arg310*)Not classifiedTo be validated
 2019-05-13
E95*
exon 4
c.283G>T
p.(Glu95*)Not classifiedTo be validated
 2019-05-13
C283G
exon 4
c.847T>G
p.(Cys283Gly)Not classifiedTo be validated
 2019-05-13
R204H
exon 4
c.611G>A
p.(Arg204His)Not classifiedTo be validated
 2018-12-27
I287T
exon 4
c.860T>C
p.(Ile287Thr)Not classifiedTo be validated
 2018-12-27
V341L
exon 4
c.1021G>C
p.(Val341Leu)Not classifiedTo be validated
 2018-12-27
H392del
exon 4
c.1174_1176delCAC
p.(His392del)Not classifiedTo be validated
 2018-12-27
W655C
exon 4
c.1965G>C
p.(Trp655Cys)Not classifiedTo be validated
 2018-07-26
S171F
exon 4
c.512C>T
p.(Ser171Phe)Not classifiedTo be validated
 2017-02-27
T177A
exon 4
c.529A>G
p.(Thr177Ala)Not classifiedTo be validated
 2017-02-22
Q880E
exon 8
c.2638C>G
p.(Gln880Glu)Not classifiedTo be validated
 2015-12-23
S445P
exon 4
c.1333T>C
p.(Ser445Pro)Not classifiedTo be validated
 2015-11-04
C165R
exon 4
c.493T>C
p.(Cys165Arg)Not classifiedTo be validated
 2015-07-14
H443P
exon 4
c.1328A>C
p.(His443Pro)Not classifiedTo be validated
 2014-11-20
V341A
exon 4
c.1022T>C
p.(Val341Ala)Not classifiedTo be validated
 2014-11-04
T337S
exon 4
c.1009A>T
p.(Thr337Ser)Not classifiedTo be validated
 2014-11-04