NOD2 (NM_022162.1) sequence variants
(CARD15/IBD1/CLR16.3/NLRC2)

Editor(s): Suzanne LESAGE   

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Total current number of sequence variants for NOD2 : 173

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

*This classification is proposed by I Ceccherini, D Rowczenio, Y Shinar, I Touitou, M van Gijn. 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
5UT
c.-53C>T
-
c.-53C>T
Likely benignVALIDATED
 2011-10-21
intron 1
c.74-29T>G
-
c.-37 T>G
Likely benignVALIDATED
 2003-05-14
intron 1
c.74-25G>T
-
c.-33G>T
Likely benignVALIDATED
 2003-05-13
intron 1
c.74-7T>A
-
c.-15T>A
Likely benignVALIDATED
 2003-05-13
exon 2
c.113G>T
p.(Arg38Met)
R38M
Uncertain significance (VUS)VALIDATED
 2007-10-29
exon 2
c.241C>G
p.(Leu81Val)
L81V
Uncertain significance (VUS)VALIDATED
 2016-10-13
exon 2
c.315G>A
p.(=)
A105A
Likely benignVALIDATED
 2003-05-06
exon 2
c.337G>A
p.(Asp113Asn)
D113N
Likely benignVALIDATED
 2004-08-05
exon 2
c.357G>T
p.(=)
L119L
Likely benignVALIDATED
 2003-05-06
exon 2
c.413G>A
p.(Arg138Gln)
R138Q
Likely benignVALIDATED
 2003-05-14
exon 2
c.418G>A
p.(Ala140Thr)
A140T
Likely benignVALIDATED
 2003-05-06
exon 2
c.460G>A
p.(Asp154Asn)
D154N
Not classifiedTo be validated
 2019-05-13
exon 2
c.464T>A
p.(Leu155Gln)
L155Q
Uncertain significance (VUS)To be validated
 2019-05-13
exon 2
c.469T>C
p.(Trp157Arg)
W157R
Likely benignVALIDATED
 2003-05-13
exon 2
c.534C>G
p.(=)
S178S
Likely benignVALIDATED
 2003-05-13
exon 3
c.566C>T
p.(Thr189Met)
T189M
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 3
c.567G>A
p.(Thr189=)
T189T
Likely benignTo be validated
 2019-05-13
exon 3
c.594C>G
p.(Phe198Leu)
F198L
Uncertain significance (VUS)To be validated
 2019-05-13
exon 3
c.633C>T
p.(=)
A211A
Likely benignVALIDATED
 2003-05-13
intron 3
c.647-18_647-16delTCT
-
c.647-18_16 delTCT
Likely benignVALIDATED
 2012-09-27
exon 4
c.674A>T
p.(Lys225Met)
K225M
Likely pathogenicTo be validated
 2019-05-13
exon 4
c.697C>T
p.(Gln233*)
Q233X
Uncertain significance (VUS)PROVISIONAL
 2012-10-24
exon 4
c.703C>T
p.(Arg235Cys)
R235C
Uncertain significance (VUS)PROVISIONAL
 2003-05-13
exon 4
c.734C>T
p.(Thr245Met)
T245M
Uncertain significance (VUS)VALIDATED
 2011-09-02
exon 4
c.743T>G
p.(Leu248Arg)
L248R
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 4
c.802C>T
p.(Pro268Ser)
P268S/SNP5
Likely benignVALIDATED
 2003-06-04
exon 4
c.859C>T
p.(His287Tyr)
H287Y
Uncertain significance (VUS)VALIDATED
 2015-12-23
exon 4
c.866A>G
p.(Asn289Ser)
N289S
Likely benignVALIDATED
 2003-05-13
exon 4
c.871G>A
p.(Asp291Asn)
D291N
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 4
c.875C>T
p.(Ala292Val)
A292V
Not classifiedTo be validated
 2019-05-13
exon 4
c.881C>G
p.(Thr294Ser)
T294S
Likely benignVALIDATED
 2003-05-13
exon 4
c.894G>A
p.(Val298=)
V298V
Uncertain significance (VUS)To be validated
 2019-05-13
exon 4
c.902C>T
p.(Ala301Val)
A301V
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 4
c.931C>T
p.(Arg311Trp)
R311W
Likely benignVALIDATED
 2003-05-13
exon 4
c.1000C>T
p.(Arg334Trp)
R334W
PathogenicVALIDATED
 2003-05-14
exon 4
c.1001G>A
p.(Arg334Gln)
R334Q
PathogenicVALIDATED
 2003-05-14
exon 4
c.1042C>G
p.(Leu348Val)
L348V
Likely pathogenicVALIDATED
 2003-05-13
exon 4
c.1045C>T
p.(Leu349Phe)
L349F
Uncertain significance (VUS)VALIDATED
 2016-11-07
exon 4
c.1055A>G
p.(His352Arg)
H352R
Likely benignVALIDATED
 2003-05-13
exon 4
c.1065G>A
p.(Trp355*)
W355X
Uncertain significance (VUS)PROVISIONAL
 2007-10-29
exon 4
c.1070A>C
p.(Asp357Ala)
D357A
Uncertain significance (VUS)VALIDATED
 2004-08-05
exon 4
c.1087A>T
p.(Ile363Phe)
I363F
Likely benignVALIDATED
 2004-08-05
exon 4
c.1117C>T
p.(Arg373Cys)
R373C
Likely benignVALIDATED
 2003-05-13
exon 4
c.1144G>A
p.(Asp382Asn)
D382N
Likely pathogenicVALIDATED
 2014-10-21
exon 4
c.1146C>G
p.(Asp382Glu)
D382E
Likely pathogenicVALIDATED
 2004-10-04
exon 4
c.1147G>A
p.(Glu383Lys)
E383K
Likely pathogenicVALIDATED
 2005-05-11
exon 4
c.1148A>G
p.(Glu383Gly)
E383G
Likely pathogenicVALIDATED
 2009-01-13
exon 4
c.1169A>T
p.(Asp390Val)
D390V
Likely pathogenicVALIDATED
 2015-04-02
exon 4
c.1171C>T
p.(Arg391Cys)
R391C
Uncertain significance (VUS)VALIDATED
 2006-05-10
exon 4
c.1178G>A
p.(Arg393His)
R393H
Uncertain significance (VUS)VALIDATED
 2011-09-02
exon 4
c.1190C>T
p.(Pro397Leu)
P397L
Uncertain significance (VUS)To be validated
 2019-07-16
exon 4
c.1241A>G
p.(Asn414Ser)
N414S
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 4
c.1277G>A
p.(Arg426His)
R426H
Likely pathogenicVALIDATED
 2018-04-30
exon 4
c.1279C>T
p.(Pro427Ser)
P427S
Uncertain significance (VUS)To be validated
 2019-05-13
exon 4
c.1281G>A
p.(=)
P427P
Likely benignVALIDATED
 2003-05-13
exon 4
c.1292C>T
p.(Ser431Leu)
S431L
Likely benignVALIDATED
 2003-05-13
exon 4
c.1295C>T
p.(Ala432Val)
A432V
Likely benignVALIDATED
 2003-05-13
exon 4
c.1321G>A
p.(Glu441Lys)
E441K
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 4
c.1366C>T
p.(=)
L456L
Likely benignVALIDATED
 2003-05-13
exon 4
c.1377C>T
p.(=)
R459R/SNP6
Likely benignVALIDATED
 2003-05-13
exon 4
c.1387C>G
p.(Pro463Ala)
P463A
Uncertain significance (VUS)VALIDATED
 2006-05-10
exon 4
c.1390G>T
p.(Gly464Trp)
G464W
Likely pathogenicVALIDATED
 2008-08-18
exon 4
c.1405C>T
p.(Leu469Phe)
L469F
Likely pathogenicVALIDATED
 2003-05-14
exon 4
c.1411C>T
p.(Arg471Cys)
R471C
Likely benignTo be validated
 2019-07-11
exon 4
c.1439A>G
p.(His480Arg)
H480R
Likely pathogenicVALIDATED
 2016-12-27
exon 4
c.1442G>A
p.(Gly481Asp)
G481D
Likely pathogenicVALIDATED
 2009-04-14
exon 4
c.1447T>C
p.(Cys483Arg)
c.1447T>C
Likely pathogenicTo be validated
 2019-03-27
exon 4
c.1469G>T
p.(Trp490Leu)
W490L
Likely pathogenicVALIDATED
 2006-01-05
exon 4
c.1484G>A
p.(Cys495Tyr)
C495Y
Likely pathogenicVALIDATED
 2005-05-27
exon 4
c.1487A>T
p.(His496Leu)
H496L
Likely pathogenicVALIDATED
 2004-10-04
exon 4
c.1493_1498del6
p.(Glu498_Leu500delinsVal)
E498_L500delinsV
Likely pathogenicVALIDATED
 2011-09-02
exon 4
c.1502T>C
p.(Leu501Pro)
L501P
Likely pathogenicVALIDATED
 2013-05-06
exon 4
c.1509G>A
p.(=)
E503E
Likely benignVALIDATED
 2003-05-13
exon 4
c.1519C>T
p.(Pro507Ser)
P507S
Likely pathogenicVALIDATED
 2015-02-20
exon 4
c.1529C>T
p.(Thr510Ile)
T510I
Uncertain significance (VUS)To be validated
 2019-05-13
exon 4
c.1534G>C
p.(Asp512His)
D512H
Likely pathogenicVALIDATED
 2013-02-05
exon 4
c.1534G>T
p.(Asp512Tyr)
D512Y
Not classifiedTo be validated
 2019-04-19
exon 4
c.1538T>C
p.(Met513Thr)
M513T
Likely pathogenicVALIDATED
 2004-10-04
exon 4
c.1538T>G
p.(Met513Arg)
M513R
PathogenicVALIDATED
 2011-05-17
exon 4
c.1558C>T
p.(His520Tyr)
H520Y
Likely pathogenicVALIDATED
 2014-10-21
exon 4
c.1581C>G
p.(=)
P527P
Likely benignVALIDATED
 2003-05-13
exon 4
c.1620dup
p.(Arg541Serfs*38)
R541fs
Uncertain significance (VUS)To be validated
 2019-07-16
exon 4
c.1648C>G
p.(Leu550Val)
L550V
Uncertain significance (VUS)VALIDATED
 2004-08-05
exon 4
c.1672_1677del
p.(Leu558_Gly559del)
558DELLG
Uncertain significance (VUS)PROVISIONAL
 2003-05-13
exon 4
c.1687T>C
p.(Tyr563His)
Y563H
Likely pathogenicVALIDATED
 2013-02-05
exon 4
c.1759C>T
p.(Arg587Cys)
R587C
Likely pathogenicVALIDATED
 2005-05-27
exon 4
c.1761T>G
p.(Arg587Arg)
R587R/SNP7
Likely benignVALIDATED
 2003-05-13
exon 4
c.1788G>A
p.(=)
T596T
Likely benignVALIDATED
 2003-05-13
exon 4
c.1798G>A
p.(Glu600Lys)
E600K
Likely pathogenicVALIDATED
 2014-10-21
exon 4
c.1799A>C
p.(Glu600Ala)
E600A
Likely pathogenicVALIDATED
 2014-10-21
exon 4
c.1808A>G
p.(His603Arg)
H603R
PathogenicVALIDATED
 2018-03-26
exon 4
c.1813A>C
p.(Thr605Pro)
T605P
Likely pathogenicVALIDATED
 2004-10-04
exon 4
c.1814C>A
p.(Thr605Asn)
T605N
Likely pathogenicVALIDATED
 2011-05-17
exon 4
c.1833C>T
p.(=)
A611A
Likely benignVALIDATED
 2003-05-13
exon 4
c.1834G>A
p.(Ala612Thr)
A612T
Uncertain significance (VUS)PROVISIONAL
 2003-05-13
exon 4
c.1835C>T
p.(Ala612Val)
A612V
Uncertain significance (VUS)PROVISIONAL
 2003-05-13
exon 4
c.1999G>A
p.(Glu667Lys)
E667K
Likely pathogenicPROVISIONAL
 2016-09-26
exon 4
c.2003C>T
p.(Pro668Leu)
P668L
Uncertain significance (VUS)VALIDATED
 2015-12-23
exon 4
c.2010C>A
p.(Asn670Lys)
N670K
Likely pathogenicVALIDATED
 2004-10-04
exon 4
c.2031C>G
p.(Phe677Leu)
F677L
Not classifiedTo be validated
 2019-05-13
exon 4
c.2046G>T
p.(Leu682Phe)
L682F
Likely pathogenicVALIDATED
 2015-12-23
exon 4
c.2050C>T
p.(Arg684Trp)
R684W
Likely benignVALIDATED
 2003-05-13
exon 4
c.2051G>A
p.(Arg684Gln)
R684Q
Uncertain significance (VUS)VALIDATED
 2013-07-03
exon 4
c.2104C>T
p.(Arg702Trp)
R702W/SNP8
Likely benignVALIDATED
 2003-06-04
exon 4
c.2107C>T
p.(Arg703Cys)
R703C
Likely benignVALIDATED
 2003-05-13
exon 4
c.2137C>T
p.(Arg713Cys)
R713C
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 4
c.2138G>A
p.(Arg713His)
R713H
Uncertain significance (VUS)VALIDATED
 2006-05-10
exon 4
c.2174C>G
p.(Ala725Gly)
A725G
Likely benignVALIDATED
 2003-05-13
exon 4
c.2180C>T
p.(Pro727Leu)
P727L
Uncertain significance (VUS)VALIDATED
 2007-10-29
exon 4
c.2197G>T
p.(Val733Leu)
V733L
Uncertain significance (VUS)VALIDATED
 2016-10-13
exon 4
c.2220C>T
p.(=)
I740I
Likely benignVALIDATED
 2003-05-13
exon 4
c.2264C>T
p.(Ala755Val)
A755V
Likely benignVALIDATED
 2003-05-13
exon 4
c.2273C>T
p.(Ala758Val)
A758V
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 4
c.2278C>T
p.(Arg760Cys)
R760C
Uncertain significance (VUS)VALIDATED
 2006-05-10
exon 4
c.2332G>A
p.(Glu778Lys)
E778K
Uncertain significance (VUS)PROVISIONAL
 2003-05-13
exon 4
c.2368C>T
p.(Arg790Trp)
R790W
Uncertain significance (VUS)VALIDATED
 2006-05-10
exon 4
c.2371C>T
p.(Arg791Trp)
R791W
Uncertain significance (VUS)VALIDATED
 2006-05-10
exon 4
c.2372G>A
p.(Arg791Gln)
R791Q
Likely benignVALIDATED
 2003-09-08
exon 4
c.2377G>A
p.(Val793Met)
V793M
Likely benignVALIDATED
 2003-05-13
exon 4
c.2406G>T
p.(=)
V802V
Likely benignVALIDATED
 2010-01-13
exon 4
c.2425C>A
p.(Gln809Lys)
Q809K
Likely pathogenicVALIDATED
 2014-10-21
exon 4
c.2446G>A
p.(Val816Ile)
V816I
Uncertain significance (VUS)VALIDATED
 2016-10-27
intron 4
c.2462+10A>C
-
c.2462+10 A>C
Likely benignVALIDATED
 2003-05-13
exon 5
c.2470G>A
p.(Asp824Asn)
D824N
Likely benignVALIDATED
 2003-09-08
exon 5
c.2475C>G
p.(Asn825Lys)
N825K
Uncertain significance (VUS)VALIDATED
 2006-05-10
exon 5
c.2507T>C
p.(Ile836Thr)
I836T
Uncertain significance (VUS)To be validated
 2019-05-13
exon 5
c.2525G>A
p.(Cys842Tyr)
C842Y
Likely benignTo be validated
 2019-07-16
exon 5
c.2527G>A
p.(Glu843Lys)
E843K
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 5
c.2546C>T
p.(Ala849Val)
A849V
Uncertain significance (VUS)VALIDATED
 2006-05-10
intron 5
c.2546+2dup
-
c.2546+2dup
Uncertain significance (VUS)VALIDATED
 2017-12-06
intron 5
c.2547-11G>T
-
c.2547-11G>T
Likely benignVALIDATED
 2013-10-15
exon 6
c.2555A>G
p.(Asn852Ser)
N852S
Uncertain significance (VUS)PROVISIONAL
 2004-08-05
exon 6
c.2558A>G
p.(Asn853Ser)
N853S
Uncertain significance (VUS)VALIDATED
 2003-05-13
exon 6
c.2587A>G
p.(Met863Val)
M863V
Likely benignVALIDATED
 2003-05-13
exon 6
c.2590G>A
p.(Ala864Thr)
A864T
Uncertain significance (VUS)To be validated
 2019-07-16
exon 6
c.2619C>T
p.(=)
F873F
Likely benignVALIDATED
 2003-05-13
intron 6
c.2630+35T>A
-
c.2630+35 T>A
Likely benignVALIDATED
 2003-05-13
intron 6
c.2631-5T>C
-
c.2631-5 T>C
Likely benignVALIDATED
 2003-05-13
exon 7
c.2653G>A
p.(Ala885Thr)
A885T
Likely benignPROVISIONAL
 2011-09-02
exon 7
c.2653G>C
p.(Ala885Pro)
A885P
Likely pathogenicTo be validated
 2019-05-13
exon 7
c.2656G>A
p.(Ala886Thr)
A886T
Likely benignPROVISIONAL
 2003-05-13
exon 7
c.2686C>T
p.(Arg896*)
R896X
Uncertain significance (VUS)PROVISIONAL
 2011-09-02
exon 7
c.2704C>A
p.(Gln902Lys)
Q902K
Likely benignVALIDATED
 2015-12-23
intron 7
c.2715-81G>A
-
c.2715-81 G>A
Likely benignVALIDATED
 2003-09-08
intron 7
c.2715-75G>A
-
c.2715-75 G>A
Likely benignVALIDATED
 2003-09-08
exon 8
c.2719T>C
p.(Trp907Arg)
W907R
Uncertain significance (VUS)VALIDATED
 2007-10-29
exon 8
c.2722G>C
p.(Gly908Arg)
G908R/SNP12
Uncertain significance (VUS)VALIDATED
 2003-06-04
exon 8
c.2722G>T
p.(Gly908Cys)
G908C
Not classifiedTo be validated
 2019-05-13
exon 8
c.2739C>T
p.(=)
D913D
Likely benignVALIDATED
 2003-05-13
exon 8
c.2740G>A
p.(Glu914Lys)
E914K
Uncertain significance (VUS)VALIDATED
 2013-08-27
exon 8
c.2753C>A
p.(Ala918Asp)
A918D
Likely benignVALIDATED
 2003-05-13
exon 8
c.2771G>A
p.(Gly924Asp)
G924D
Likely benignVALIDATED
 2003-05-13
intron 8
c.2798+158C>T
-
JW1
Likely benignVALIDATED
 2011-09-02
exon 9
c.2815A>G
p.(Ile939Val)
I939V
Not classifiedTo be validated
 2019-05-13
exon 9
c.2817T>C
p.(=)
I939I
Likely benignVALIDATED
 2003-05-13
exon 9
c.2863G>A
p.(Val955Ile)
V955I
Likely benignVALIDATED
 2003-05-13
intron 9
c.2883-2A>G
p.?
2883-2A>G
Uncertain significance (VUS)To be validated
 2019-05-13
exon 10
c.2909A>G
p.(Glu970Gly)
E970G
Not classifiedTo be validated
 2019-05-13
exon 10
c.2914G>A
p.(Val972Ile)
V972I
Likely benignVALIDATED
 2003-05-13
exon 10
c.2925C>T
p.(=)
L975L
Likely benignVALIDATED
 2003-09-05
exon 10
c.2933G>A
p.(Gly978Glu)
G978E
Likely benignVALIDATED
 2003-05-14
exon 4
c.2998G>A
p.(Ala1000Thr)
c.2998G>A
Not classifiedTo be validated
 2018-09-03
exon 11
c.3019dupC
p.(Leu1007Profs*2)
1007FS/SNP13
Uncertain significance (VUS)PROVISIONAL
 2003-06-04
intron 11
c.3051-102C>G
-
c.3051-102 C>G
Likely benignVALIDATED
 2003-05-14
exon 12
c.3055C>T
p.(Arg1019*)
R1019X
Uncertain significance (VUS)PROVISIONAL
 2007-10-29
exon 12
c.3055C>G
p.(Arg1019Gly)
R1019G
Uncertain significance (VUS)VALIDATED
 2011-09-02
exon 12
c.3056G>T
p.(Arg1019Leu)
R1019L
Uncertain significance (VUS)To be validated
 2019-05-13
3UT
c.*9G>A
-
c.*9G>A
Likely benignVALIDATED
 2003-05-14
3UT
c.*375G>A
-
c.3498G>A
Likely benignVALIDATED
 2011-10-21
3UT
c.*873C>T
-
*873C>T
Likely benignVALIDATED
 2010-02-01
3UT
c.*982T>C
-
c.3505C>T
Likely benignVALIDATED
 2011-10-21
3UT
c.*1030T>C
-
*1030T>C
Likely benignVALIDATED
 2010-02-01
3UT
c.*1200A>G
-
c.4323A>G
Likely benignVALIDATED
 2011-10-21