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.Asp19HisLikely pathogenicTo be validated
 2018-02-01
exon 1c.86A>Tp.Asp29ValNot classifiedTo be validated
 2017-02-27
exon 1c.146A>Gp.His49ArgUncertain significance (VOUS)VALIDATED
 2013-07-01
exon 1c.207C>Tp.(=)BenignVALIDATED
 2013-05-06
exon 1c.224C>Tp.Ala75ValUncertain 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.Arg135HisUnsolvedUNSOLVED
 2010-12-13
exon 3c.423C>Tp.(=)Likely benignVALIDATED
 2005-05-23
exon 3c.443G>Ap.Cys148TyrUncertain significance (VOUS)VALIDATED
 2007-12-24
exon 3c.450A>Gp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.503G>Ap.Arg168GlnLikely pathogenicPROVISIONAL
 2006-01-25
exon 3c.508C>Ap.Arg170SerLikely pathogenicVALIDATED
 2013-12-13
exon 3c.515T>Cp.Ile172ThrLikely pathogenicPROVISIONAL
 2004-03-18
exon 3c.517A>Gp.Lys173GluUncertain significance (VOUS)VALIDATED
 2013-02-05
exon 1c.526C>Tp.Arg176TrpNot classifiedTo be validated
 2016-12-21
exon 3c.578C>Ap.Thr193LysUncertain significance (VOUS)VALIDATED
 2011-01-04
exon 3c.578C>Tp.Thr193MetUncertain significance (VOUS)PROVISIONAL
 2014-11-03
exon 3c.587G>Ap.Ser196AsnLikely benignVALIDATED
 2005-12-24
exon 3c.592G>Ap.Val198MetUncertain significance (VOUS)VALIDATED
 2002-07-12
exon 3c.598C>Ap.Pro200ThrNot classifiedTo be validated
 2015-03-31
exon 3c.631G>Ap.Asp211AsnUncertain significance (VOUS)VALIDATED
 2013-08-30
exon 3c.638A>Gp.His213ArgUncertain significance (VOUS)PROVISIONAL
 2014-02-21
exon 3c.657C>Tp.(=)BenignVALIDATED
 2002-07-28
exon 3c.674C>Tp.Ala225ValUncertain 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.Leu254MetNot classifiedTo be validated
 2018-02-27
exon 3c.777T>Gp.Cys259TrpLikely pathogenicVALIDATED
 2007-04-09
exon 3c.778C>Tp.Arg260TrpPathogenicVALIDATED
 2002-06-21
exon 3c.779G>Tp.Arg260LeuPathogenicVALIDATED
 2003-12-29
exon 3c.779G>Cp.Arg260ProPathogenicVALIDATED
 2003-12-29
exon 3c.779G>Ap.Arg260GlnNot classifiedTo be validated
 2016-02-02
exon 3c.780G>Ap.(=)Likely benignVALIDATED
 2002-07-28
exon 3c.785T>Cp.Val262AlaLikely pathogenicVALIDATED
 2007-04-09
exon 3c.785T>Gp.Val262GlyLikely pathogenicPROVISIONAL
 2008-02-13
exon 3c.790C>Tp.Leu264PheLikely pathogenicVALIDATED
 2007-04-09
exon 3c.790C>Gp.Leu264ValLikely pathogenicVALIDATED
 2007-05-17
exon 3c.791T>Ap.Leu264HisPathogenicVALIDATED
 2002-09-16
exon 3c.791T>Gp.Leu264ArgLikely pathogenicVALIDATED
 2004-08-17
exon 3c.791T>Cp.Leu264ProLikely pathogenicVALIDATED
 2017-08-16
exon 3c.796A>Cp.Thr266ProLikely pathogenicPROVISIONAL
 2010-07-29
exon 3c.838G>Ap.Asp280AsnUncertain significance (VOUS)VALIDATED
 2014-04-01
exon 3c.864C>Gp.Ile288MetUncertain significance (VOUS)VALIDATED
 2013-05-21
exon 3c.895A>Gp.Met299ValUncertain significance (VOUS)VALIDATED
 2008-04-23
exon 3c.901G>Ap.Gly301SerUnsolvedUNSOLVED
 2013-05-06
exon 3c.902G>Ap.Gly301AspUnsolvedUNSOLVED
 2003-02-28
exon 3c.907G>Ap.Asp303AsnPathogenicVALIDATED
 2002-06-21
exon 3c.907G>Cp.Asp303HisLikely pathogenicVALIDATED
 2007-03-15
exon 3c.908A>Gp.Asp303GlyPathogenicVALIDATED
 2003-12-29
exon 3c.908A>Cp.Asp303AlaLikely pathogenicVALIDATED
 2013-12-13
exon 3c.910G>Ap.Glu304LysPathogenicVALIDATED
 2007-07-03
exon 3c.914T>Cp.Leu305ProPathogenicVALIDATED
 2002-07-12
exon 3c.916C>Ap.Gln306LysLikely pathogenicPROVISIONAL
 2002-07-28
exon 3c.916C>Gp.Gln306GluLikely pathogenicPROVISIONAL
 2009-03-30
exon 3c.919G>Ap.Gly307SerLikely pathogenicVALIDATED
 2011-09-01
exon 3c.920G>Tp.Gly307ValLikely pathogenicVALIDATED
 2006-08-08
exon 3c.920G>Ap.Gly307AspNot classifiedTo be validated
 2017-08-25
exon 3c.926T>Cp.Phe309SerLikely pathogenicVALIDATED
 2002-07-28
exon 3c.926T>Ap.Phe309TyrLikely pathogenicVALIDATED
 2013-05-30
exon 3c.930C>Tp.(=)Likely benignVALIDATED
 2003-04-19
exon 3c.931G>Ap.Glu311LysLikely pathogenicVALIDATED
 2006-08-08
exon 3c.935A>Cp.His312ProLikely pathogenicVALIDATED
 2007-12-26
exon 3c.937A>Gp.Ile313ValUncertain significance (VOUS)PROVISIONAL
 2009-03-09
exon 3c.944C>Tp.Pro315LeuUncertain significance (VOUS)VALIDATED
 2006-01-23
exon 3c.973C>Tp.Arg325TrpLikely pathogenicVALIDATED
 2009-01-07
exon 3c.974G>Ap.Arg325GlnUncertain significance (VOUS)VALIDATED
 2010-05-06
exon 3c.977G>Ap.Gly326GluLikely pathogenicVALIDATED
 2005-07-03
exon 3c.993C>Ap.Ser331ArgLikely pathogenicPROVISIONAL
 2004-08-25
exon 3c.995G>Ap.Ser332Asn Uncertain significance (VOUS)VALIDATED
 2017-08-18
exon 3c.1000A>Gp.Ile334ValLikely pathogenicPROVISIONAL
 2009-09-21
exon 3c.1020C>Tp.(=)BenignVALIDATED
 2004-09-21
exon 3c.1032G>Ap.(=)BenignVALIDATED
 2006-09-01
exon 3c.1043C>Tp.Thr348MetPathogenicVALIDATED
 2002-06-21
exon 3c.1044G>Ap.(=)BenignVALIDATED
 2013-05-06
exon 3c.1049C>Tp.Pro350LeuUnsolvedUNSOLVED
 2013-02-05
exon 3c.1051G>Ap.Val351MetLikely pathogenicPROVISIONAL
 2006-01-24
exon 3c.1051G>Cp.Val351LeuLikely pathogenicPROVISIONAL
 2006-10-22
exon 3c.1054G>Ap.Ala352ThrLikely pathogenicVALIDATED
 2009-06-19
exon 3c.1055C>Tp.Ala352ValPathogenicVALIDATED
 2002-04-30
exon 3c.1058T>Cp.Leu353ProLikely pathogenicVALIDATED
 2002-09-17
exon 3c.1062G>Tp.Glu354AspLikely pathogenicVALIDATED
 2003-12-29
exon 3c.1064A>Cp.Lys355ThrLikely pathogenicVALIDATED
 2013-12-13
exon 3c.1065A>Tp.Lys355AsnLikely pathogenicPROVISIONAL
 2011-10-10
exon 3c.1073A>Gp.His358ArgLikely pathogenicVALIDATED
 2002-07-28
exon 3c.1105C>Ap.Leu369MetUncertain significance (VOUS)VALIDATED
 2012-09-03
exon 3c.1121C>Ap.Ala374AspLikely pathogenicVALIDATED
 2002-09-16
exon 3c.1123A>Gp.Lys375GluUncertain significance (VOUS)VALIDATED
 2011-08-03
exon 3c.1132G>Ap.Glu378LysUncertain significance (VOUS)VALIDATED
 2012-01-12
exon 3c.1213A>Cp.Thr405ProLikely pathogenicVALIDATED
 2003-12-29
exon 3c.1216A>Gp.Met406ValLikely pathogenicVALIDATED
 2011-10-10
exon 3c.1218G>Cp.Met406IleLikely pathogenicVALIDATED
 2007-07-27
exon 3c.1231C>Tp.(=)BenignVALIDATED
2003-05-27
exon 3c.1231C>Gp.Leu411ValLikely pathogenicPROVISIONAL
 2013-05-06
exon 3c.1233G>Tp.(=)BenignVALIDATED
2013-12-13
exon 3c.1241G>Tp.Trp414LeuLikely pathogenicPROVISIONAL
 2008-08-05
exon 3c.1245C>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.1298C>Tp.Thr433IleLikely pathogenicPROVISIONAL
 2011-10-10
exon 3c.1302C>Tp.(=)BenignVALIDATED
 2002-07-28
exon 3c.1303A>Gp.Lys435GluUncertain significance (VOUS)PROVISIONAL
 2013-07-01
exon 3c.1306A>Cp.Thr436ProLikely pathogenicVALIDATED
 2006-02-28
exon 3c.1306A>Gp.Thr436AlaLikely pathogenicVALIDATED
 2007-06-23
exon 3c.1306_1308delp.Thr438delLikely pathogenicPROVISIONAL
 2008-04-02
exon 3c.1307C>Ap.Thr436AsnLikely pathogenicVALIDATED
 2002-07-28
exon 3c.1307C>Tp.Thr436IlePathogenicVALIDATED
 2003-12-29
exon 3c.1315G>Ap.Ala439ThrLikely pathogenicVALIDATED
 2002-06-21
exon 3c.1315G>Cp.Ala439ProLikely pathogenicVALIDATED
 2004-09-17
exon 3c.1316C>Tp.Ala439ValPathogenicVALIDATED
 2002-04-30
exon 3c.1321T>Cp.Tyr441HisUncertain significance (VOUS)VALIDATED
 2008-12-02
exon 3c.1323C>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.1329C>Gp.Phe443LeuLikely 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.Asn477LysLikely pathogenicVALIDATED
 2007-07-03
exon 3c.1438A>Tp.Ile480PheLikely pathogenicVALIDATED
 2007-05-23
exon 3c.1463G>Ap.Arg488LysUncertain significance (VOUS)VALIDATED
 2003-01-13
exon 3c.1484C>Tp.Ala495ValUncertain significance (VOUS)VALIDATED
 2007-03-15
exon 3c.1562T>Cp.Met521ThrUncertain significance (VOUS)VALIDATED
 2013-07-02
exon 3c.1568T>Gp.Phe523CysPathogenicVALIDATED
 2007-04-09
exon 3c.1568T>Ap.Phe523TyrLikely pathogenicVALIDATED
 2017-08-18
exon 3c.1569C>Ap.Phe523LeuLikely pathogenicVALIDATED
 2002-09-16
exon 3c.1569C>Gp.Phe523LeuLikely pathogenicVALIDATED
 2002-09-16
exon 3c.1573G>Ap.Glu525LysLikely pathogenicVALIDATED
 2005-08-16
exon 3c.1574A>Tp.Glu525ValLikely pathogenicVALIDATED
 2010-11-30
exon 3c.1600C>Tp.(=)Likely benignVALIDATED
 2003-04-19
exon 3c.1625C>Tp.Thr542MetUncertain significance (VOUS)VALIDATED
 2014-12-03
exon 3c.1642C>Tp.Arg548CysUnsolvedUNSOLVED
 2013-05-06
exon 3c.1660C>Tp.Arg554*Likely pathogenicVALIDATED
 2005-12-27
exon 3c.1669A>Gp.Thr557AlaUncertain significance (VOUS)VALIDATED
 2006-01-11
exon 3c.1687T>Ap.Tyr563AsnLikely pathogenicVALIDATED
 2007-04-09
exon 3c.1688A>Gp.Tyr563CysNot classifiedTo be validated
 2017-09-24
exon 3c.1690G>Ap.Gly564SerNot classifiedTo be validated
 2017-09-24
exon 3c.1698C>Ap.Phe566LeuLikely pathogenicVALIDATED
 2011-10-10
exon 3c.1699G>Ap.Glu567LysLikely pathogenicVALIDATED
 2007-12-06
exon 3c.1700A>Cp.Glu567AlaLikely pathogenicVALIDATED
 2013-12-13
exon 3c.1704G>Cp.Lys568AsnLikely pathogenicVALIDATED
 2011-10-10
exon 3c.1705G>Cp.Gly569ArgPathogenicVALIDATED
 2002-06-21
exon 3c.1706G>Cp.Gly569AlaLikely pathogenicVALIDATED
 2008-03-13
exon 3c.1708T>Cp.Tyr570HisNot classifiedTo be validated
 2017-01-18
exon 3c.1708T>Ap.Tyr570AsnLikely pathogenicVALIDATED
 2017-08-16
exon 3c.1709A>Gp.Tyr570CysLikely pathogenicVALIDATED
 2002-09-16
exon 3c.1709A>Tp.Tyr570PheLikely pathogenicVALIDATED
 2006-04-04
exon 3c.1713G>Tp.Leu571PheLikely pathogenicVALIDATED
 2008-02-25
exon 3c.1713G>Cp.Leu571PheLikely pathogenicVALIDATED
 2010-05-06
exon 3c.1714A>Tp.Ile572PheLikely pathogenicVALIDATED
 2008-02-25
exon 3c.1718T>Cp.Phe573SerLikely pathogenicVALIDATED
 2002-07-28
exon 3c.1736T>Ap.Phe579TyrNot classifiedTo be validated
 2014-02-20
exon 3c.1760C>Tp.Thr587IleLikely pathogenicPROVISIONAL
 2006-08-02
exon 3c.1783A>Gp.Ser595GlyLikely pathogenicVALIDATED
 2010-11-30
exon 3c.1792A>Tp.Ile598PheLikely pathogenicVALIDATED
 2013-03-29
exon 3c.1807A>Gp.Arg603GlyNot classifiedTo be validated
 2017-09-28
exon 3c.1814A>Tp.Glu605ValNot classifiedTo be validated
 2017-12-20
exon 3c.1880A>Gp.Glu627GlyPathogenicVALIDATED
 2002-04-30
exon 3c.1881A>T p.Glu627AspLikely pathogenicVALIDATED
 2010-09-09
exon 3c.1896G>Tp.Leu632PhePathogenicVALIDATED
 2003-12-29
exon 3c.1906C>Gp.Gln636GluNot classifiedTo be validated
 2016-06-10
exon 3c.1936G>Tp.Asp646TyrUncertain significance (VOUS)VALIDATED
 2014-02-24
exon 3c.1945C>Tp.Pro649SerNot classifiedTo be validated
 2016-09-27
exon 3c.1976T>Ap.Met659LysPathogenicVALIDATED
 2005-08-16
exon 3c.1985T>Cp.Met662ThrLikely pathogenicVALIDATED
 2002-07-28
exon 3c.2030T>Cp.Leu677ProUncertain significance (VOUS)VALIDATED
 2013-05-06
exon 3c.2034C>Tp.(=)Likely benignVALIDATED
 2017-08-18
exon 3c.2062G>Ap.Glu688LysLikely pathogenicVALIDATED
 2007-07-03
exon 3c.2068G>Ap.Glu690LysUnsolvedUNSOLVED
 2008-04-28
exon 3c.2102T>Cp.Met701ThrUncertain significance (VOUS)PROVISIONAL
 2008-08-18
exon 3c.2107C>Ap.Gln703LysUncertain significance (VOUS)VALIDATED
 2002-12-12
exon 3c.2129C>Gp.Ser710CysUncertain significance (VOUS)PROVISIONAL
 2004-11-15
exon 3c.2133T>Cp.His711HisLikely benignVALIDATED
 2017-09-05
exon 3c.2134G>Tp.Ala712SerUncertain significance (VOUS)PROVISIONAL
 2013-08-16
intron 3c.2150+59G>A-BenignVALIDATED
 2007-08-14
exon 4c.2176A>Gp.Ser726GlyUncertain significance (VOUS)VALIDATED
 2011-07-14
exon 4c.2263G>Cp.Gly755ArgPathogenicVALIDATED
 2006-08-08
exon 4c.2263G>Ap.Gly755ArgPathogenicVALIDATED
 2012-05-07
exon 4c.2264G>Cp.Gly755AlaLikely 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.Gly809SerUncertain 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.Tyr859HisLikely pathogenicVALIDATED
 2013-05-06
exon 6c.2576A>Gp.Tyr859CysLikely pathogenicVALIDATED
 2004-09-02
exon 6c.2580G>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 6c.2596G>Ap.Gly866ArgUncertain 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.Ser896ProUncertain significance (VOUS)VALIDATED
 2017-09-05
exon 7c.2753G>Ap.Arg918GlnNot classifiedTo be validated
 2017-09-06
exon 8c.2855C>Tp.Thr952MetUncertain 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