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 : 149

*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.2998G>Ap.Ala1000ThrNot classifiedTo be validated
 2018-09-03
exon 4c.1277G>Ap.Arg426HisLikely pathogenicVALIDATED
 2018-04-30
exon 4c.1808A>Gp.His603ArgLikely pathogenicVALIDATED
 2018-03-26
intron 5c.2546+2dup-Uncertain significance (VOUS)VALIDATED
 2017-12-06
exon 4c.1439A>Gp.His480ArgLikely pathogenicVALIDATED
 2016-12-27
exon 4c.1045C>Tp.Leu349PheUncertain significance (VOUS)VALIDATED
 2016-11-07
exon 4c.2446G>Ap.Val816IleUncertain significance (VOUS)VALIDATED
 2016-10-27
exon 2c.241C>Gp.Leu81ValUncertain significance (VOUS)VALIDATED
 2016-10-13
exon 4c.2197G>Tp.Val733LeuUncertain significance (VOUS)VALIDATED
 2016-10-13
exon 4c.1999G>Ap.Glu667LysLikely pathogenicVALIDATED
 2016-09-26
exon 4c.859C>Tp.His287TyrUncertain significance (VOUS)VALIDATED
 2015-12-23
exon 4c.2046G>Tp.Leu682PheLikely pathogenicVALIDATED
 2015-12-23
exon 4c.2003C>Tp.Pro668LeuUncertain significance (VOUS)VALIDATED
 2015-12-23
exon 7c.2704C>Ap.Gln902LysLikely benignVALIDATED
 2015-12-23
exon 4c.1169A>Tp.Asp390ValLikely pathogenicVALIDATED
 2015-04-02
exon 4c.1519C>Tp.Pro507SerLikely pathogenicVALIDATED
 2015-02-20
exon 4c.1144G>Ap.Asp382AsnLikely pathogenicVALIDATED
 2014-10-21
exon 4c.1558C>Tp.His520TyrLikely pathogenicVALIDATED
 2014-10-21
exon 4c.1798G>Ap.Glu600LysLikely pathogenicVALIDATED
 2014-10-21
exon 4c.1799A>Cp.Glu600AlaLikely pathogenicVALIDATED
 2014-10-21
exon 4c.2425C>Ap.Gln809LysLikely pathogenicVALIDATED
 2014-10-21
intron 5c.2547-11G>T-Likely benignVALIDATED
 2013-10-15
exon 8c.2740G>Ap.Glu914LysUncertain significance (VOUS)VALIDATED
 2013-08-27
exon 4c.2051G>Ap.Arg684GlnUncertain significance (VOUS)VALIDATED
 2013-07-03
exon 4c.1502T>Cp.Leu501ProLikely pathogenicVALIDATED
 2013-05-06
exon 4c.1534G>Cp.Asp512HisLikely pathogenicVALIDATED
 2013-02-05
exon 4c.1687T>Cp.Tyr563HisLikely 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_Leu500delinsValLikely pathogenicVALIDATED
 2011-09-02
intron 8c.2798+158C>T-Likely benignVALIDATED
 2011-09-02
exon 7c.2653G>Ap.Ala885ThrLikely benignPROVISIONAL
 2011-09-02
exon 12c.3055C>Gp.Arg1019GlyUncertain significance (VOUS)VALIDATED
 2011-09-02
exon 4c.1178G>Ap.Arg393HisUncertain significance (VOUS)VALIDATED
 2011-09-02
exon 7c.2686C>Tp.Arg896*Likely pathogenicVALIDATED
 2011-09-02
exon 4c.734C>Tp.Thr245MetUncertain significance (VOUS)VALIDATED
 2011-09-02
exon 4c.1814C>Ap.Thr605AsnLikely pathogenicVALIDATED
 2011-05-17
exon 4c.1538T>Gp.Met513ArgLikely 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.Gly481AspLikely pathogenicVALIDATED
 2009-04-14
exon 4c.1148A>Gp.Glu383GlyLikely pathogenicVALIDATED
 2009-01-13
exon 4c.1390G>Tp.Gly464TrpLikely pathogenicVALIDATED
 2008-08-18
exon 2c.113G>Tp.Arg38MetUncertain significance (VOUS)VALIDATED
 2007-10-29
exon 4c.1065G>Ap.Trp355*Likely pathogenicVALIDATED
 2007-10-29
exon 4c.2180C>Tp.Pro727LeuUncertain significance (VOUS)VALIDATED
 2007-10-29
exon 8c.2719T>Cp.Trp907ArgUncertain significance (VOUS)VALIDATED
 2007-10-29
exon 12c.3055C>Tp.Arg1019*Likely pathogenicVALIDATED
 2007-10-29
exon 4c.1171C>Tp.Arg391CysUncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.1387C>Gp.Pro463AlaUncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.2138G>Ap.Arg713HisUncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.2278C>Tp.Arg760CysUncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.2368C>Tp.Arg790TrpUncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.2371C>Tp.Arg791TrpUncertain significance (VOUS)VALIDATED
 2006-05-10
exon 5c.2475C>Gp.Asn825LysUncertain significance (VOUS)VALIDATED
 2006-05-10
exon 5c.2546C>Tp.Ala849ValUncertain significance (VOUS)VALIDATED
 2006-05-10
exon 4c.1469G>Tp.Trp490LeuLikely pathogenicVALIDATED
 2006-01-05
exon 4c.1484G>Ap.Cys495TyrLikely pathogenicVALIDATED
 2005-05-27
exon 4c.1759C>Tp.Arg587CysLikely pathogenicVALIDATED
 2005-05-27
exon 4c.1147G>Ap.Glu383LysLikely pathogenicVALIDATED
 2005-05-11
exon 4c.1487A>Tp.His496LeuLikely pathogenicVALIDATED
 2004-10-04
exon 4c.1538T>Cp.Met513ThrLikely pathogenicVALIDATED
 2004-10-04
exon 4c.1813A>Cp.Thr605ProLikely pathogenicVALIDATED
 2004-10-04
exon 4c.2010C>Ap.Asn670LysLikely pathogenicVALIDATED
 2004-10-04
exon 4c.1146C>Gp.Asp382GluLikely pathogenicVALIDATED
 2004-10-04
exon 6c.2555A>Gp.Asn852SerLikely pathogenicVALIDATED
 2004-08-05
exon 2c.337G>Ap.Asp113AsnUncertain significance (VOUS)VALIDATED
 2004-08-05
exon 4c.1070A>Cp.Asp357AlaUncertain significance (VOUS)VALIDATED
 2004-08-05
exon 4c.1087A>Tp.Ile363PheLikely benignVALIDATED
 2004-08-05
exon 4c.1648C>Gp.Leu550ValUncertain significance (VOUS)VALIDATED
 2004-08-05
exon 5c.2470G>Ap.Asp824AsnLikely benignVALIDATED
 2003-09-08
exon 4c.2372G>Ap.Arg791GlnUncertain 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.Pro268SerLikely benignVALIDATED
 2003-06-04
exon 4c.2104C>Tp.Arg702TrpLikely benignVALIDATED
 2003-06-04
exon 8c.2722G>Cp.Gly908ArgUncertain significance (VOUS)VALIDATED
 2003-06-04
exon 11c.3019dupCp.Leu1007Profs*2Likely pathogenicVALIDATED
 2003-06-04
intron 1c.74-29T>G-Likely benignVALIDATED
 2003-05-14
exon 2c.413G>Ap.Arg138GlnUncertain significance (VOUS)VALIDATED
 2003-05-14
exon 10c.2933G>Ap.Gly978GluUncertain 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.Leu469PheLikely pathogenicVALIDATED
 2003-05-14
exon 4c.1001G>Ap.Arg334GlnLikely pathogenicVALIDATED
 2003-05-14
exon 4c.1000C>Tp.Arg334TrpLikely pathogenicVALIDATED
 2003-05-14
exon 2c.469T>Cp.Trp157ArgLikely benignVALIDATED
 2003-05-13
exon 2c.534C>Gp.(=)Likely benignVALIDATED
 2003-05-13
exon 3c.566C>Tp.Thr189MetUncertain 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.Arg235CysLikely pathogenicVALIDATED
 2003-05-13
exon 4c.743T>Gp.Leu248ArgUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.866A>Gp.Asn289SerUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.871G>Ap.Asp291AsnUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.881C>Gp.Thr294SerLikely benignVALIDATED
 2003-05-13
exon 4c.902C>Tp.Ala301ValUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.931C>Tp.Arg311TrpUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.1042C>Gp.Leu348ValLikely pathogenicVALIDATED
 2003-05-13
exon 4c.1055A>Gp.His352ArgLikely benignVALIDATED
 2003-05-13
exon 4c.1117C>Tp.Arg373CysLikely benignVALIDATED
 2003-05-13
exon 4c.1241A>Gp.Asn414SerUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.1281G>Ap.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1292C>Tp.Ser431LeuLikely benignVALIDATED
 2003-05-13
exon 4c.1295C>Tp.Ala432ValLikely benignVALIDATED
 2003-05-13
exon 4c.1321G>Ap.Glu441LysUncertain 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_Gly559delLikely 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.Arg587ArgLikely benignVALIDATED
 2003-05-13
exon 4c.1833C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.1834G>Ap.Ala612ThrLikely pathogenicVALIDATED
 2003-05-13
exon 4c.1835C>Tp.Ala612ValLikely pathogenicVALIDATED
 2003-05-13
exon 4c.2050C>Tp.Arg684TrpLikely benignVALIDATED
 2003-05-13
exon 4c.2107C>Tp.Arg703CysLikely benignVALIDATED
 2003-05-13
exon 4c.2137C>Tp.Arg713CysUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.2174C>Gp.Ala725GlyLikely benignVALIDATED
 2003-05-13
exon 4c.2220C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 4c.2264C>Tp.Ala755ValUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.2273C>Tp.Ala758ValUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 4c.2332G>Ap.Glu778LysLikely pathogenicVALIDATED
 2003-05-13
exon 4c.2377G>Ap.Val793MetLikely benignVALIDATED
 2003-05-13
intron 4c.2462+10A>C-Likely benignVALIDATED
 2003-05-13
exon 5c.2527G>Ap.Glu843LysUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 6c.2558A>Gp.Asn853SerUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 6c.2587A>Gp.Met863ValLikely 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.Ala886ThrLikely benignPROVISIONAL
 2003-05-13
exon 8c.2739C>Tp.(=)Likely benignVALIDATED
 2003-05-13
exon 8c.2753C>Ap.Ala918AspUncertain significance (VOUS)VALIDATED
 2003-05-13
exon 8c.2771G>Ap.Gly924AspLikely benignVALIDATED
 2003-05-13
exon 9c.2817T>Cp.(=)Likely benignVALIDATED
 2003-05-13
exon 9c.2863G>Ap.Val955IleLikely benignVALIDATED
 2003-05-13
exon 10c.2914G>Ap.Val972IleLikely 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.Ala140ThrLikely benignVALIDATED
 2003-05-06