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 : 168

*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
Classification *
Status *
Simple variant
Complex alleles
exon 4c.1279C>Tp.(Pro427Ser)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 4c.1529C>Tp.(Thr510Ile)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 5c.2507T>Cp.(Ile836Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 7c.2653G>Cp.(Ala885Pro)Likely pathogenicTo be validated
 2019-05-13
exon 8c.2722G>Tp.(Gly908Cys)Not classifiedTo be validated
 2019-05-13
exon 9c.2815A>Gp.(Ile939Val)Not classifiedTo be validated
 2019-05-13
intron 9c.2883-2A>Gp.?Uncertain significance (VOUS)To be validated
 2019-05-13
exon 12c.3056G>Tp.(Arg1019Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 2c.460G>Ap.(Asp154Asn)Not classifiedTo be validated
 2019-05-13
exon 2c.464T>Ap.(Leu155Gln)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 3c.567G>Ap.(Thr189=)Likely benignTo be validated
 2019-05-13
exon 3c.594C>Gp.(Phe198Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 4c.674A>Tp.(Lys225Met)Likely pathogenicTo be validated
 2019-05-13
exon 4c.875C>Tp.(Ala292Val)Not classifiedTo be validated
 2019-05-13
exon 4c.894G>Ap.(Val298=)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 10c.2909A>Gp.(Glu970Gly)Not classifiedTo be validated
 2019-05-13
exon 4c.2031C>Gp.(Phe677Leu)Not classifiedTo be validated
 2019-05-13
exon 4c.1534G>Tp.(Asp512Tyr)Not classifiedTo be validated
 2019-04-19
exon 4c.1447T>Cp.(Cys483Arg)Likely pathogenicTo be validated
 2019-03-27
exon 4c.2998G>Ap.(Ala1000Thr)Not classifiedTo be validated
 2018-09-03
exon 4c.1277G>Ap.(Arg426His)Likely pathogenicVALIDATED
 2018-04-30
exon 4c.1808A>Gp.(His603Arg)Likely pathogenicVALIDATED
 2018-03-26
intron 5c.2546+2dup-Uncertain significance (VOUS)VALIDATED
 2017-12-06
exon 4c.1439A>Gp.(His480Arg)Likely pathogenicVALIDATED
 2016-12-27
exon 4c.1045C>Tp.(Leu349Phe)Uncertain significance (VOUS)VALIDATED
 2016-11-07
exon 4c.2446G>Ap.(Val816Ile)Uncertain significance (VOUS)VALIDATED
 2016-10-27
exon 2c.241C>Gp.(Leu81Val)Uncertain significance (VOUS)VALIDATED
 2016-10-13
exon 4c.2197G>Tp.(Val733Leu)Uncertain significance (VOUS)VALIDATED
 2016-10-13
exon 4c.1999G>Ap.(Glu667Lys)Likely pathogenicVALIDATED
 2016-09-26
exon 4c.859C>Tp.(His287Tyr)Uncertain significance (VOUS)VALIDATED
 2015-12-23
exon 4c.2046G>Tp.(Leu682Phe)Likely pathogenicVALIDATED
 2015-12-23
exon 4c.2003C>Tp.(Pro668Leu)Uncertain significance (VOUS)VALIDATED
 2015-12-23
exon 7c.2704C>Ap.(Gln902Lys)Likely benignVALIDATED
 2015-12-23
exon 4c.1169A>Tp.(Asp390Val)Likely pathogenicVALIDATED
 2015-04-02
exon 4c.1519C>Tp.(Pro507Ser)Likely pathogenicVALIDATED
 2015-02-20
exon 4c.1144G>Ap.(Asp382Asn)Likely pathogenicVALIDATED
 2014-10-21
exon 4c.1558C>Tp.(His520Tyr)Likely pathogenicVALIDATED
 2014-10-21
exon 4c.1798G>Ap.(Glu600Lys)Likely pathogenicVALIDATED
 2014-10-21
exon 4c.1799A>Cp.(Glu600Ala)Likely pathogenicVALIDATED
 2014-10-21
exon 4c.2425C>Ap.(Gln809Lys)Likely pathogenicVALIDATED
 2014-10-21
intron 5c.2547-11G>T-Likely benignVALIDATED
 2013-10-15
exon 8c.2740G>Ap.(Glu914Lys)Uncertain significance (VOUS)VALIDATED
 2013-08-27
exon 4c.2051G>Ap.(Arg684Gln)Uncertain significance (VOUS)VALIDATED
 2013-07-03
exon 4c.1502T>Cp.(Leu501Pro)Likely pathogenicVALIDATED
 2013-05-06
exon 4c.1534G>Cp.(Asp512His)Likely pathogenicVALIDATED
 2013-02-05
exon 4c.1687T>Cp.(Tyr563His)Likely pathogenicVALIDATED
 2013-02-05
exon 4c.697C>Tp.(Gln233*)Likely pathogenicVALIDATED
 2012-10-24
intron 3c.647-18_16 delTCT-Likely benignVALIDATED
 2012-09-27
5UTc.-53C>T-Likely benignVALIDATED
 2011-10-21
3UTc.*375G>A-Likely benignVALIDATED
 2011-10-21
3UTc.*982C>T-Likely benignVALIDATED
 2011-10-21
3UTc.*1200A>G-Likely benignVALIDATED
 2011-10-21
exon 4c.1493_1498del6p.(Glu498_Leu500delinsVal)Likely pathogenicVALIDATED
 2011-09-02
intron 8c.2798+158C>T-Likely benignVALIDATED
 2011-09-02
exon 7c.2653G>Ap.(Ala885Thr)Likely benignPROVISIONAL
 2011-09-02
exon 12c.3055C>Gp.(Arg1019Gly)Uncertain significance (VOUS)VALIDATED
 2011-09-02
exon 4c.1178G>Ap.(Arg393His)Uncertain significance (VOUS)VALIDATED
 2011-09-02
exon 7c.2686C>Tp.(Arg896*)Likely pathogenicVALIDATED
 2011-09-02
exon 4c.734C>Tp.(Thr245Met)Uncertain significance (VOUS)VALIDATED
 2011-09-02
exon 4c.1814C>Ap.(Thr605Asn)Likely pathogenicVALIDATED
 2011-05-17
exon 4c.1538T>Gp.(Met513Arg)Likely pathogenicVALIDATED
 2011-05-17
3UTc.*873C>T-Likely benignVALIDATED
 2010-02-01
3UTc.*1030T>C-Likely benignVALIDATED
 2010-02-01
exon 4c.2406G>Tp.(=)Likely benignVALIDATED
 2010-01-13
exon 4c.1442G>Ap.(Gly481Asp)Likely pathogenicVALIDATED
 2009-04-14
exon 4c.1148A>Gp.(Glu383Gly)Likely pathogenicVALIDATED
 2009-01-13
exon 4c.1390G>Tp.(Gly464Trp)Likely pathogenicVALIDATED
 2008-08-18
exon 2c.113G>Tp.(Arg38Met)Uncertain significance (VOUS)VALIDATED
 2007-10-29
exon 4c.1065G>Ap.(Trp355*)Likely pathogenicVALIDATED
 2007-10-29
exon 4c.2180C>Tp.(Pro727Leu)Uncertain significance (VOUS)VALIDATED
 2007-10-29
exon 8c.2719T>Cp.(Trp907Arg)Uncertain significance (VOUS)VALIDATED
 2007-10-29
exon 12c.3055C>Tp.(Arg1019*)Likely pathogenicVALIDATED
 2007-10-29
exon 4c.1171C>Tp.(Arg391Cys)Uncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.1387C>Gp.(Pro463Ala)Uncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.2138G>Ap.(Arg713His)Uncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.2278C>Tp.(Arg760Cys)Uncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.2368C>Tp.(Arg790Trp)Uncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.2371C>Tp.(Arg791Trp)Uncertain significance (VOUS)VALIDATED
 2006-05-10
exon 5c.2475C>Gp.(Asn825Lys)Uncertain significance (VOUS)VALIDATED
 2006-05-10
exon 5c.2546C>Tp.(Ala849Val)Uncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.1469G>Tp.(Trp490Leu)Likely pathogenicVALIDATED
 2006-01-05
exon 4c.1484G>Ap.(Cys495Tyr)Likely pathogenicVALIDATED
 2005-05-27
exon 4c.1759C>Tp.(Arg587Cys)Likely pathogenicVALIDATED
 2005-05-27
exon 4c.1147G>Ap.(Glu383Lys)Likely pathogenicVALIDATED
 2005-05-11
exon 4c.1487A>Tp.(His496Leu)Likely pathogenicVALIDATED
 2004-10-04
exon 4c.1538T>Cp.(Met513Thr)Likely pathogenicVALIDATED
 2004-10-04
exon 4c.1813A>Cp.(Thr605Pro)Likely pathogenicVALIDATED
 2004-10-04
exon 4c.2010C>Ap.(Asn670Lys)Likely pathogenicVALIDATED
 2004-10-04
exon 4c.1146C>Gp.(Asp382Glu)Likely pathogenicVALIDATED
 2004-10-04
exon 6c.2555A>Gp.(Asn852Ser)Likely pathogenicVALIDATED
 2004-08-05
exon 2c.337G>Ap.(Asp113Asn)Uncertain significance (VOUS)VALIDATED
 2004-08-05
exon 4c.1070A>Cp.(Asp357Ala)Uncertain significance (VOUS)VALIDATED
 2004-08-05
exon 4c.1087A>Tp.(Ile363Phe)Likely benignVALIDATED
 2004-08-05
exon 4c.1648C>Gp.(Leu550Val)Uncertain significance (VOUS)VALIDATED
 2004-08-05
exon 5c.2470G>Ap.(Asp824Asn)Likely benignVALIDATED
 2003-09-08
exon 4c.2372G>Ap.(Arg791Gln)Uncertain significance (VOUS)VALIDATED
 2003-09-08
intron 7c.2715-81G>A-Likely benignVALIDATED
 2003-09-08
intron 7c.2715-75G>A-Likely benignVALIDATED
 2003-09-08
exon 10c.2925C>Tp.(=)Likely benignVALIDATED
 2003-09-05
exon 4c.802C>Tp.(Pro268Ser)Likely benignVALIDATED
 2003-06-04
exon 4c.2104C>Tp.(Arg702Trp)Likely benignVALIDATED
 2003-06-04
exon 8c.2722G>Cp.(Gly908Arg)Uncertain significance (VOUS)VALIDATED
 2003-06-04
exon 11c.3019dupCp.(Leu1007Profs*2)Likely pathogenicVALIDATED
 2003-06-04
intron 1c.74-29T>G-Likely benignVALIDATED
 2003-05-14
exon 2c.413G>Ap.(Arg138Gln)Uncertain significance (VOUS)VALIDATED
 2003-05-14
exon 10c.2933G>Ap.(Gly978Glu)Uncertain significance (VOUS)VALIDATED
 2003-05-14
intron 11c.3051-102C>G-Likely benignVALIDATED
 2003-05-14
3UTc.*9G>A-Likely benignVALIDATED
 2003-05-14
exon 4c.1405C>Tp.(Leu469Phe)Likely pathogenicVALIDATED
 2003-05-14
exon 4c.1001G>Ap.(Arg334Gln)PathogenicVALIDATED
 2003-05-14
exon 4c.1000C>Tp.(Arg334Trp)PathogenicVALIDATED
 2003-05-14
exon 2c.469T>Cp.(Trp157Arg)Likely benignVALIDATED
 2003-05-13
exon 2c.534C>Gp.(=)Likely benignVALIDATED
 2003-05-13
exon 3c.566C>Tp.(Thr189Met)Uncertain significance (VOUS)VALIDATED
 2003-05-13
intron 1c.74-25G>T-Likely benignVALIDATED
 2003-05-13
intron 1c.74-7T>A-Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 3c.633C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.703C>Tp.(Arg235Cys)Likely pathogenicVALIDATED
 2003-05-13
exon 4c.743T>Gp.(Leu248Arg)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.866A>Gp.(Asn289Ser)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.871G>Ap.(Asp291Asn)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.881C>Gp.(Thr294Ser)Likely benignVALIDATED
 2003-05-13
exon 4c.902C>Tp.(Ala301Val)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.931C>Tp.(Arg311Trp)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.1042C>Gp.(Leu348Val)Likely pathogenicVALIDATED
 2003-05-13
exon 4c.1055A>Gp.(His352Arg)Likely benignVALIDATED
 2003-05-13
exon 4c.1117C>Tp.(Arg373Cys)Likely benignVALIDATED
 2003-05-13
exon 4c.1241A>Gp.(Asn414Ser)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.1281G>Ap.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1292C>Tp.(Ser431Leu)Likely benignVALIDATED
 2003-05-13
exon 4c.1295C>Tp.(Ala432Val)Likely benignVALIDATED
 2003-05-13
exon 4c.1321G>Ap.(Glu441Lys)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.1366C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1509G>Ap.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1581C>Gp.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1672_1677delp.(Leu558_Gly559del)Likely pathogenicVALIDATED
 2003-05-13
exon 4c.1788G>Ap.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1377C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1761T>Gp.(Arg587Arg)Likely benignVALIDATED
 2003-05-13
exon 4c.1833C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1834G>Ap.(Ala612Thr)Likely pathogenicVALIDATED
 2003-05-13
exon 4c.1835C>Tp.(Ala612Val)Likely pathogenicVALIDATED
 2003-05-13
exon 4c.2050C>Tp.(Arg684Trp)Likely benignVALIDATED
 2003-05-13
exon 4c.2107C>Tp.(Arg703Cys)Likely benignVALIDATED
 2003-05-13
exon 4c.2137C>Tp.(Arg713Cys)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.2174C>Gp.(Ala725Gly)Likely benignVALIDATED
 2003-05-13
exon 4c.2220C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.2264C>Tp.(Ala755Val)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.2273C>Tp.(Ala758Val)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.2332G>Ap.(Glu778Lys)Likely pathogenicVALIDATED
 2003-05-13
exon 4c.2377G>Ap.(Val793Met)Likely benignVALIDATED
 2003-05-13
intron 4c.2462+10A>C-Likely benignVALIDATED
 2003-05-13
exon 5c.2527G>Ap.(Glu843Lys)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 6c.2558A>Gp.(Asn853Ser)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 6c.2587A>Gp.(Met863Val)Likely benignVALIDATED
 2003-05-13
exon 6c.2619C>Tp.(=)Likely benignVALIDATED
 2003-05-13
intron 6c.2630+35T>A-Likely benignVALIDATED
 2003-05-13
intron 6c.2631-5T>C-Likely benignVALIDATED
 2003-05-13
exon 7c.2656G>Ap.(Ala886Thr)Likely benignPROVISIONAL
 2003-05-13
exon 8c.2739C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 8c.2753C>Ap.(Ala918Asp)Uncertain significance (VOUS)VALIDATED
 2003-05-13
exon 8c.2771G>Ap.(Gly924Asp)Likely benignVALIDATED
 2003-05-13
exon 9c.2817T>Cp.(=)Likely benignVALIDATED
 2003-05-13
exon 9c.2863G>Ap.(Val955Ile)Likely benignVALIDATED
 2003-05-13
exon 10c.2914G>Ap.(Val972Ile)Likely benignVALIDATED
 2003-05-13
exon 2c.357G>Tp.(=)Likely benignVALIDATED
 2003-05-06
exon 2c.315G>Ap.(=)Likely benignVALIDATED
 2003-05-06
exon 2c.418G>Ap.(Ala140Thr)Likely benignVALIDATED
 2003-05-06