NLRP3 (NM_001243133.1) sequence variants
(CIAS1/NALP3/PYPAF1/CLR1.1)

Editor(s): Hal HOFFMAN   

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Total current number of sequence variants for NLRP3 : 210

*This classification is proposed by the INSAID study group. Ref. 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
5UTc.-40G>T-Likely benignVALIDATED
 2017-09-05
exon 1c.55G>Cp.(Asp19His)Likely pathogenicTo be validated
 2018-02-01
exon 1c.86A>Tp.(Asp29Val)Not classifiedTo be validated
 2017-02-27
exon 1c.146A>Gp.(His49Arg)Uncertain significance (VOUS)VALIDATED
 2013-07-01
exon 1c.207C>Tp.(=)BenignVALIDATED
 2013-05-06
exon 1c.224C>Tp.(Ala75Val)Uncertain significance (VOUS)VALIDATED
 2017-08-18
intron 1c.278-196T>C-Likely benignVALIDATED
 2007-08-14
intron 1c.278-45T>C-Likely benignVALIDATED
 2008-01-21
intron 2c.397+7G>A-Likely benignVALIDATED
 2017-09-05
intron 2c.398-229T>G-Likely benignVALIDATED
 2010-09-29
intron 2c.398-56C>T-Likely benignVALIDATED
 2004-12-10
intron 2c.398-15C>T-Likely benignPROVISIONAL
 2012-01-03
exon 3c.404G>Ap.(Arg135His)UnsolvedUNSOLVED
 2010-12-13
exon 3c.423C>Tp.(=)Likely benignVALIDATED
 2005-05-23
exon 3c.443G>Ap.(Cys148Tyr)Uncertain significance (VOUS)VALIDATED
 2007-12-24
exon 3c.450A>Gp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.503G>Ap.(Arg168Gln)Likely pathogenicPROVISIONAL
 2006-01-25
exon 3c.508C>Ap.(Arg170Ser)Likely pathogenicVALIDATED
 2013-12-13
exon 3c.515T>Cp.(Ile172Thr)Likely pathogenicPROVISIONAL
 2004-03-18
exon 3c.517A>Gp.(Lys173Glu)Uncertain significance (VOUS)VALIDATED
 2013-02-05
exon 1c.526C>Tp.(Arg176Trp)Not classifiedTo be validated
 2016-12-21
exon 3c.578C>Ap.(Thr193Lys)Uncertain significance (VOUS)VALIDATED
 2011-01-04
exon 3c.578C>Tp.(Thr193Met)Uncertain significance (VOUS)PROVISIONAL
 2014-11-03
exon 3c.587G>Ap.(Ser196Asn)Likely benignVALIDATED
 2005-12-24
exon 3c.592G>Ap.(Val198Met)Uncertain significance (VOUS)VALIDATED
 2002-07-12
exon 3c.598C>Ap.(Pro200Thr)Not classifiedTo be validated
 2015-03-31
exon 3c.631G>Ap.(Asp211Asn)Uncertain significance (VOUS)VALIDATED
 2013-08-30
exon 3c.638A>Gp.(His213Arg)Uncertain significance (VOUS)PROVISIONAL
 2014-02-21
exon 3c.657C>Tp.(=)BenignVALIDATED
 2002-07-28
exon 3c.674C>Tp.(Ala225Val)Uncertain significance (VOUS)VALIDATED
 2008-04-23
exon 3c.681G>Tp.(=)Likely benignVALIDATED
 2017-08-18
exon 3c.693A>Tp.(=)Likely benignVALIDATED
 2012-08-22
exon 3c.699G>Ap.(=)Likely benignVALIDATED
 2008-10-23
exon 3c.726G>Ap.(=)BenignVALIDATED
 2002-07-28
exon 3c.760C>Ap.(Leu254Met)Not classifiedTo be validated
 2018-02-27
exon 3c.777T>Gp.(Cys259Trp)Likely pathogenicVALIDATED
 2007-04-09
exon 3c.778C>Tp.(Arg260Trp)PathogenicVALIDATED
 2002-06-21
exon 3c.779G>Tp.(Arg260Leu)PathogenicVALIDATED
 2003-12-29
exon 3c.779G>Cp.(Arg260Pro)PathogenicVALIDATED
 2003-12-29
exon 3c.779G>Ap.(Arg260Gln)Not classifiedTo be validated
 2016-02-02
exon 3c.780G>Ap.(=)Likely benignVALIDATED
 2002-07-28
exon 3c.785T>Cp.(Val262Ala)Likely pathogenicVALIDATED
 2007-04-09
exon 3c.785T>Gp.(Val262Gly)Likely pathogenicPROVISIONAL
 2008-02-13
exon 3c.790C>Tp.(Leu264Phe)Likely pathogenicVALIDATED
 2007-04-09
exon 3c.790C>Gp.(Leu264Val)Likely pathogenicVALIDATED
 2007-05-17
exon 3c.791T>Ap.(Leu264His)PathogenicVALIDATED
 2002-09-16
exon 3c.791T>Gp.(Leu264Arg)Likely pathogenicVALIDATED
 2004-08-17
exon 3c.791T>Cp.(Leu264Pro)Likely pathogenicVALIDATED
 2017-08-16
exon 3c.796A>Cp.(Thr266Pro)Likely pathogenicPROVISIONAL
 2010-07-29
exon 3c.838G>Ap.(Asp280Asn)Uncertain significance (VOUS)VALIDATED
 2014-04-01
exon 3c.864C>Gp.(Ile288Met)Uncertain significance (VOUS)VALIDATED
 2013-05-21
exon 3c.895A>Gp.(Met299Val)Uncertain significance (VOUS)VALIDATED
 2008-04-23
exon 3c.901G>Ap.(Gly301Ser)UnsolvedUNSOLVED
 2013-05-06
exon 3c.902G>Ap.(Gly301Asp)UnsolvedUNSOLVED
 2003-02-28
exon 3c.907G>Ap.(Asp303Asn)PathogenicVALIDATED
 2002-06-21
exon 3c.907G>Cp.(Asp303His)Likely pathogenicVALIDATED
 2007-03-15
exon 3c.908A>Gp.(Asp303Gly)PathogenicVALIDATED
 2003-12-29
exon 3c.908A>Cp.(Asp303Ala)Likely pathogenicVALIDATED
 2013-12-13
exon 3c.910G>Ap.(Glu304Lys)PathogenicVALIDATED
 2007-07-03
exon 3c.914T>Cp.(Leu305Pro)PathogenicVALIDATED
 2002-07-12
exon 3c.916C>Ap.(Gln306Lys)Likely pathogenicPROVISIONAL
 2002-07-28
exon 3c.916C>Gp.(Gln306Glu)Likely pathogenicPROVISIONAL
 2009-03-30
exon 3c.919G>Ap.(Gly307Ser)Likely pathogenicVALIDATED
 2011-09-01
exon 3c.920G>Tp.(Gly307Val)Likely pathogenicVALIDATED
 2006-08-08
exon 3c.920G>Ap.(Gly307Asp)Not classifiedTo be validated
 2017-08-25
exon 3c.926T>Cp.(Phe309Ser)Likely pathogenicVALIDATED
 2002-07-28
exon 3c.926T>Ap.(Phe309Tyr)Likely pathogenicVALIDATED
 2013-05-30
exon 3c.930C>Tp.(=)Likely benignVALIDATED
 2003-04-19
exon 3c.931G>Ap.(Glu311Lys)Likely pathogenicVALIDATED
 2006-08-08
exon 3c.935A>Cp.(His312Pro)Likely pathogenicVALIDATED
 2007-12-26
exon 3c.937A>Gp.(Ile313Val)Uncertain significance (VOUS)PROVISIONAL
 2009-03-09
exon 3c.944C>Tp.(Pro315Leu)Uncertain significance (VOUS)VALIDATED
 2006-01-23
exon 3c.973C>Tp.(Arg325Trp)Likely pathogenicVALIDATED
 2009-01-07
exon 3c.974G>Ap.(Arg325Gln)Uncertain significance (VOUS)VALIDATED
 2010-05-06
exon 3c.977G>Ap.(Gly326Glu)Likely pathogenicVALIDATED
 2005-07-03
exon 3c.993C>Ap.(Ser331Arg)Likely pathogenicPROVISIONAL
 2004-08-25
exon 3c.995G>Ap.(Ser332Asn )Uncertain significance (VOUS)VALIDATED
 2017-08-18
exon 3c.1000A>Gp.(Ile334Val)Likely pathogenicPROVISIONAL
 2009-09-21
exon 3c.1020C>Tp.(=)BenignVALIDATED
 2004-09-21
exon 3c.1032G>Ap.(=)BenignVALIDATED
 2006-09-01
exon 3c.1043C>Tp.(Thr348Met)PathogenicVALIDATED
 2002-06-21
exon 3c.1044G>Ap.(=)BenignVALIDATED
 2013-05-06
exon 3c.1049C>Tp.(Pro350Leu)UnsolvedUNSOLVED
 2013-02-05
exon 3c.1051G>Ap.(Val351Met)Likely pathogenicPROVISIONAL
 2006-01-24
exon 3c.1051G>Cp.(Val351Leu)Likely pathogenicPROVISIONAL
 2006-10-22
exon 3c.1054G>Ap.(Ala352Thr)Likely pathogenicVALIDATED
 2009-06-19
exon 3c.1055C>Tp.(Ala352Val)PathogenicVALIDATED
 2002-04-30
exon 3c.1058T>Cp.(Leu353Pro)Likely pathogenicVALIDATED
 2002-09-17
exon 3c.1062G>Tp.(Glu354Asp)Likely pathogenicVALIDATED
 2003-12-29
exon 3c.1064A>Cp.(Lys355Thr)Likely pathogenicVALIDATED
 2013-12-13
exon 3c.1065A>Tp.(Lys355Asn)Likely pathogenicPROVISIONAL
 2011-10-10
exon 3c.1073A>Gp.(His358Arg)Likely pathogenicVALIDATED
 2002-07-28
exon 3c.1105C>Ap.(Leu369Met)Uncertain significance (VOUS)VALIDATED
 2012-09-03
exon 3c.1121C>Ap.(Ala374Asp)Likely pathogenicVALIDATED
 2002-09-16
exon 3c.1123A>Gp.(Lys375Glu)Uncertain significance (VOUS)VALIDATED
 2011-08-03
exon 3c.1132G>Ap.(Glu378Lys)Uncertain significance (VOUS)VALIDATED
 2012-01-12
exon 3c.1213A>Cp.(Thr405Pro)Likely pathogenicVALIDATED
 2003-12-29
exon 3c.1216A>Gp.(Met406Val)Likely pathogenicVALIDATED
 2011-10-10
exon 3c.1218G>Cp.(Met406Ile)Likely pathogenicVALIDATED
 2007-07-27
exon 3c.1231C>Tp.(=)BenignVALIDATED
2003-05-27
exon 3c.1231C>Gp.(Leu411Val)Likely pathogenicPROVISIONAL
 2013-05-06
exon 3c.1233G>Tp.(=)BenignVALIDATED
2013-12-13
exon 3c.1241G>Tp.(Trp414Leu)Likely pathogenicPROVISIONAL
 2008-08-05
exon 3c.1245C>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.1298C>Tp.(Thr433Ile)Likely pathogenicPROVISIONAL
 2011-10-10
exon 3c.1302C>Tp.(=)BenignVALIDATED
 2002-07-28
exon 3c.1303A>Gp.(Lys435Glu)Uncertain significance (VOUS)PROVISIONAL
 2013-07-01
exon 3c.1306A>Cp.(Thr436Pro)Likely pathogenicVALIDATED
 2006-02-28
exon 3c.1306A>Gp.(Thr436Ala)Likely pathogenicVALIDATED
 2007-06-23
exon 3c.1306_1308delp.(Thr438del)Likely pathogenicPROVISIONAL
 2008-04-02
exon 3c.1307C>Ap.(Thr436Asn)Likely pathogenicVALIDATED
 2002-07-28
exon 3c.1307C>Tp.(Thr436Ile)PathogenicVALIDATED
 2003-12-29
exon 3c.1315G>Ap.(Ala439Thr)Likely pathogenicVALIDATED
 2002-06-21
exon 3c.1315G>Cp.(Ala439Pro)Likely pathogenicVALIDATED
 2004-09-17
exon 3c.1316C>Tp.(Ala439Val)PathogenicVALIDATED
 2002-04-30
exon 3c.1321T>Cp.(Tyr441His)Uncertain significance (VOUS)VALIDATED
 2008-12-02
exon 3c.1323C>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.1329C>Gp.(Phe443Leu)Likely pathogenicVALIDATED
 2007-04-09
exon 3c.1374C>Tp.(=)Likely benignVALIDATED
 2007-05-17
exon 3c.1383C>Tp.(=)Likely benignVALIDATED
 2003-04-19
exon 3c.1389C>Tp.(=)BenignVALIDATED
 2003-04-19
exon 3c.1401C>Tp.(=)Likely benignVALIDATED
 2010-08-26
exon 3c.1431C>Ap.(Asn477Lys)Likely pathogenicVALIDATED
 2007-07-03
exon 3c.1438A>Tp.(Ile480Phe)Likely pathogenicVALIDATED
 2007-05-23
exon 3c.1463G>Ap.(Arg488Lys)Uncertain significance (VOUS)VALIDATED
 2003-01-13
exon 3c.1484C>Tp.(Ala495Val)Uncertain significance (VOUS)VALIDATED
 2007-03-15
exon 3c.1562T>Cp.(Met521Thr)Uncertain significance (VOUS)VALIDATED
 2013-07-02
exon 3c.1568T>Gp.(Phe523Cys)PathogenicVALIDATED
 2007-04-09
exon 3c.1568T>Ap.(Phe523Tyr)Likely pathogenicVALIDATED
 2017-08-18
exon 3c.1569C>Ap.(Phe523Leu)Likely pathogenicVALIDATED
 2002-09-16
exon 3c.1569C>Gp.(Phe523Leu)Likely pathogenicVALIDATED
 2002-09-16
exon 3c.1573G>Ap.(Glu525Lys)Likely pathogenicVALIDATED
 2005-08-16
exon 3c.1574A>Tp.(Glu525Val)Likely pathogenicVALIDATED
 2010-11-30
exon 3c.1600C>Tp.(=)Likely benignVALIDATED
 2003-04-19
exon 3c.1625C>Tp.(Thr542Met)Uncertain significance (VOUS)VALIDATED
 2014-12-03
exon 3c.1642C>Tp.(Arg548Cys)UnsolvedUNSOLVED
 2013-05-06
exon 3c.1660C>Tp.(Arg554*)Likely pathogenicVALIDATED
 2005-12-27
exon 3c.1669A>Gp.(Thr557Ala)Uncertain significance (VOUS)VALIDATED
 2006-01-11
exon 3c.1687T>Ap.(Tyr563Asn)Likely pathogenicVALIDATED
 2007-04-09
exon 3c.1688A>Gp.(Tyr563Cys)Not classifiedTo be validated
 2017-09-24
exon 3c.1690G>Ap.(Gly564Ser)Not classifiedTo be validated
 2017-09-24
exon 3c.1698C>Ap.(Phe566Leu)Likely pathogenicVALIDATED
 2011-10-10
exon 3c.1699G>Ap.(Glu567Lys)Likely pathogenicVALIDATED
 2007-12-06
exon 3c.1700A>Cp.(Glu567Ala)Likely pathogenicVALIDATED
 2013-12-13
exon 3c.1704G>Cp.(Lys568Asn)Likely pathogenicVALIDATED
 2011-10-10
exon 3c.1705G>Cp.(Gly569Arg)PathogenicVALIDATED
 2002-06-21
exon 3c.1706G>Cp.(Gly569Ala)Likely pathogenicVALIDATED
 2008-03-13
exon 3c.1708T>Cp.(Tyr570His)Not classifiedTo be validated
 2017-01-18
exon 3c.1708T>Ap.(Tyr570Asn)Likely pathogenicVALIDATED
 2017-08-16
exon 3c.1709A>Gp.(Tyr570Cys)Likely pathogenicVALIDATED
 2002-09-16
exon 3c.1709A>Tp.(Tyr570Phe)Likely pathogenicVALIDATED
 2006-04-04
exon 3c.1713G>Tp.(Leu571Phe)Likely pathogenicVALIDATED
 2008-02-25
exon 3c.1713G>Cp.(Leu571Phe)Likely pathogenicVALIDATED
 2010-05-06
exon 3c.1714A>Tp.(Ile572Phe)Likely pathogenicVALIDATED
 2008-02-25
exon 3c.1718T>Cp.(Phe573Ser)Likely pathogenicVALIDATED
 2002-07-28
exon 3c.1736T>Ap.(Phe579Tyr)Not classifiedTo be validated
 2014-02-20
exon 3c.1760C>Tp.(Thr587Ile)Likely pathogenicPROVISIONAL
 2006-08-02
exon 3c.1783A>Gp.(Ser595Gly)Likely pathogenicVALIDATED
 2010-11-30
exon 3c.1792A>Tp.(Ile598Phe)Likely pathogenicVALIDATED
 2013-03-29
exon 3c.1807A>Gp.(Arg603Gly)Not classifiedTo be validated
 2017-09-28
exon 3c.1814A>Tp.(Glu605Val)Not classifiedTo be validated
 2017-12-20
exon 3c.1880A>Gp.(Glu627Gly)PathogenicVALIDATED
 2002-04-30
exon 3c.1881A>T p.(Glu627Asp)Likely pathogenicVALIDATED
 2010-09-09
exon 3c.1896G>Tp.(Leu632Phe)PathogenicVALIDATED
 2003-12-29
exon 3c.1906C>Gp.(Gln636Glu)Not classifiedTo be validated
 2016-06-10
exon 3c.1936G>Tp.(Asp646Tyr)Uncertain significance (VOUS)VALIDATED
 2014-02-24
exon 3c.1945C>Tp.(Pro649Ser)Not classifiedTo be validated
 2016-09-27
exon 3c.1976T>Ap.(Met659Lys)PathogenicVALIDATED
 2005-08-16
exon 3c.1985T>Cp.(Met662Thr)Likely pathogenicVALIDATED
 2002-07-28
exon 3c.2030T>Cp.(Leu677Pro)Uncertain significance (VOUS)VALIDATED
 2013-05-06
exon 3c.2034C>Tp.(=)Likely benignVALIDATED
 2017-08-18
exon 3c.2062G>Ap.(Glu688Lys)Likely pathogenicVALIDATED
 2007-07-03
exon 3c.2068G>Ap.(Glu690Lys)UnsolvedUNSOLVED
 2008-04-28
exon 3c.2102T>Cp.(Met701Thr)Uncertain significance (VOUS)PROVISIONAL
 2008-08-18
exon 3c.2107C>Ap.(Gln703Lys)Uncertain significance (VOUS)VALIDATED
 2002-12-12
exon 3c.2129C>Gp.(Ser710Cys)Uncertain significance (VOUS)PROVISIONAL
 2004-11-15
exon 3c.2133T>Cp.(His711His)Likely benignVALIDATED
 2017-09-05
exon 3c.2134G>Tp.(Ala712Ser)Uncertain significance (VOUS)PROVISIONAL
 2013-08-16
intron 3c.2150+59G>A-BenignVALIDATED
 2007-08-14
exon 4c.2176A>Gp.(Ser726Gly)Uncertain significance (VOUS)VALIDATED
 2011-07-14
exon 4c.2263G>Cp.(Gly755Arg)PathogenicVALIDATED
 2006-08-08
exon 4c.2263G>Ap.(Gly755Arg)PathogenicVALIDATED
 2012-05-07
exon 4c.2264G>Cp.(Gly755Ala)Likely pathogenicVALIDATED
 2007-01-10
intron 4c.2321+85A>G-BenignVALIDATED
 2005-12-29
intron 4c.2322-527_2322-486(6_12)-Not classifiedTo be validated
 2007-08-14
intron 4c.2322-225T>C-Likely benignVALIDATED
 2017-09-05
intron 4c.2322-224G>A-Likely benignVALIDATED
 2017-09-05
intron 4c.2322-197T>G-Likely benignVALIDATED
 2017-09-05
intron 4c.2322-194T>C-Likely benignVALIDATED
 2017-09-05
intron 4c.2322-76C>T-BenignVALIDATED
 2004-12-10
intron 4c.2322-55_2322-54ins42-Not classifiedTo be validated
 2004-12-10
intron 4c.2322-40G>A-BenignVALIDATED
 2004-12-07
exon 5c.2425G>Ap.(Gly809Ser)Uncertain significance (VOUS)VALIDATED
 2012-01-12
intron 6c.2492+82delG-Likely benignVALIDATED
 2017-09-05
intron 6c.2493-133G>C-Likely benignVALIDATED
 2017-09-05
intron 6c.2493-40G>A-Likely benignVALIDATED
 2017-09-05
exon 6c.2575T>Cp.(Tyr859His)Likely pathogenicVALIDATED
 2013-05-06
exon 6c.2576A>Gp.(Tyr859Cys)Likely pathogenicVALIDATED
 2004-09-02
exon 6c.2580G>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 6c.2596G>Ap.(Gly866Arg)Uncertain significance (VOUS)VALIDATED
 2013-05-06
intron 6c.2663+71T>C-Likely benignVALIDATED
 2017-09-05
intron 6c.2663+859A>C-BenignVALIDATED
 2007-08-14
exon 7c.2686T>Cp.(Ser896Pro)Uncertain significance (VOUS)VALIDATED
 2017-09-05
exon 7c.2753G>Ap.(Arg918Gln)Not classifiedTo be validated
 2017-09-06
exon 8c.2855C>Tp.(Thr952Met)Uncertain significance (VOUS)VALIDATED
 2013-07-01
intron 8c.3005+25C>T-Likely benignVALIDATED
 2008-01-21
intron 8c.3005+44C>A-BenignVALIDATED
 2005-04-19
intron 8c.3006-45_3006-44del-Likely benignVALIDATED
 2005-12-19
3UTc.*177delC-Likely benignPROVISIONAL
 2005-12-19
3UTc.*230C>G-Not classifiedTo be validated
 2005-04-19