NLRP7 (NM_001127255.1) sequence variants
(NALP7/PYPAF3/NOD12/PAN7/CLR19.4)

Editor(s): Rima SLIM   

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Total current number of sequence variants for NLRP7 : 260

* 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
5 flankingc.-13413_2982-344delp.0Not classifiedTo be validated
 2015-11-15
5 flankingc.-7026_-40+230delp.?Not classifiedTo be validated
 2017-11-16
5 flankingc.-3998_2130-668delp.0Not classifiedTo be validated
 2015-11-15
5 flankingc.-122G>A-Not classifiedTo be validated
 2012-02-29
intron 1c.-40+21C>T-Not classifiedTo be validated
 2008-03-07
intron 1c.-40+34T>G-Not classifiedTo be validated
 2012-10-17
intron 1c.-40+36C>T-Not classifiedTo be validated
 2008-03-07
intron 1c.-40+121G>A-Not classifiedTo be validated
 2012-02-29
intron 1c.-40+251_2130-681delp.0Not classifiedTo be validated
 2015-11-15
intron 1c.-39-1769_2129+228del-Not classifiedTo be validated
 2015-11-27
intron 1c.-39-792C>T-Not classifiedTo be validated
 2008-07-11
intron 1c.-39-427T>C-Not classifiedTo be validated
 2008-03-01
intron 1c.-39-393G>A-Not classifiedTo be validated
 2008-03-01
intron 1c.-39-387_2129+265dupp.(Glu710Aspfs*7)Not classifiedTo be validated
 2007-12-26
intron 1c.-39-300C>T-Not classifiedTo be validated
 2008-03-07
intron 1c.-39-231_2130-510delp.0Not classifiedTo be validated
 2014-09-22
intron 1c.-39-90G>C-Not classifiedTo be validated
 2008-07-11
intron 1c.-39-16C>T-Not classifiedTo be validated
 2008-01-03
exon 2c.183delCp.(Ser62Profs*6)Not classifiedTo be validated
 2009-03-23
exon 2c.197G>Ap.(Trp66*)Not classifiedTo be validated
 2016-05-05
exon 2c.219C>Tp.(=)Not classifiedTo be validated
 2009-06-17
exon 2c.251G>Ap.(Cys84Tyr)Not classifiedTo be validated
 2007-08-15
intron 2c.277+1G>C-Not classifiedTo be validated
 2011-09-02
intron 2c.278-134C>T-Not classifiedTo be validated
 2014-09-16
intron 2c.278-68A>G-Not classifiedTo be validated
 2012-06-28
exon 3c.295G>Tp.(Glu99*)Not classifiedTo be validated
 2007-05-28
exon 3c.337dupGp.(Glu113Glyfs*7)Not classifiedTo be validated
 2009-03-23
exon 3c.346A>Tp.(Lys116*)Not classifiedTo be validated
 2009-04-03
intron 3c.352+1G>Ap.(Gly118fs)Not classifiedTo be validated
 2006-08-10
intron 3c.352+231G>A-Not classifiedTo be validated
 2008-07-11
intron 3c.353-235C>T-Not classifiedTo be validated
 2008-07-11
intron 3c.353-234G>A-Not classifiedTo be validated
 2011-03-04
intron 3c.353-231C>A-Not classifiedTo be validated
 2011-03-04
intron 3c.353-227A>G-Not classifiedTo be validated
 2011-03-04
intron 3c.353-216C>G-Not classifiedTo be validated
 2008-03-01
intron 3c.353-178A>G-Not classifiedTo be validated
 2008-03-01
intron 3c.353-111C>T-Not classifiedTo be validated
 2008-03-05
intron 3c.353-71C>T-Not classifiedTo be validated
 2008-05-16
intron 3c.353-56A>G-Not classifiedTo be validated
 2008-01-03
intron 3c.353-52T>G-Not classifiedTo be validated
 2011-03-04
exon 4c.390G>Ap.(=)Not classifiedTo be validated
 2006-08-11
exon 4c.394_395delp.(Leu132Glyfs*12)Not classifiedTo be validated
 2017-11-15
exon 4c.418C>Tp.(Gln140*)Not classifiedTo be validated
 2017-11-16
exon 4c.446A>Gp.(Asp149Gly)Not classifiedTo be validated
 2012-10-30
exon 4c.467G>Ap.(Arg156Gln)Not classifiedTo be validated
 2008-07-11
exon 4c.544G>Ap.(Val182Met)Not classifiedTo be validated
 2011-10-30
exon 4c.574A>Cp.(Met192Leu)Not classifiedTo be validated
 2008-07-11
exon 4c.584G>Ap.(Trp195*)Not classifiedTo be validated
 2015-11-27
exon 4c.603C>Tp.(=)Not classifiedTo be validated
 2007-10-31
exon 4c.628C>Tp.(Leu210Phe)Not classifiedTo be validated
 2011-03-04
exon 4c.693G>Ap.(Trp231*)Not classifiedTo be validated
 2012-07-14
exon 4c.701T>Cp.(Leu234Ser)Not classifiedTo be validated
 2010-02-03
exon 4c.749T>Gp.(Phe250Cys)Not classifiedTo be validated
 2010-07-22
exon 4c.750C>Ap.(Phe250Leu)Not classifiedTo be validated
 2010-04-06
exon 4c.829A>Cp.(Lys277Gln)Not classifiedTo be validated
 2008-07-11
exon 4c.835G>Tp.(Val279Leu)Not classifiedTo be validated
 2012-10-30
exon 4c.915A>Cp.(=)Not classifiedTo be validated
 2009-06-17
exon 4c.929A>Gp.(Gln310Arg)Not classifiedTo be validated
 2010-07-22
exon 4c.930_931delGCp.(Gln310Hisfs*38)Not classifiedTo be validated
 2009-07-02
exon 4c.930G>Tp.(Leu311His)Not classifiedTo be validated
 2010-07-22
exon 4c.931C>Ap.(Leu311Ile)Not classifiedTo be validated
 2010-07-22
exon 4c.939_952dup14p.(Tyr318Cysfs*7)Not classifiedTo be validated
 2009-03-23
exon 4c.955G>Ap.(Val319Ile)Not classifiedTo be validated
 2006-08-25
exon 4c.985A>Cp.(Arg329Lys)Not classifiedTo be validated
 2007-11-21
exon 4c.1017C>Tp.(=)Not classifiedTo be validated
 2012-03-07
exon 4c.1018G>Ap.(Glu340Lys)Not classifiedTo be validated
 2011-01-12
exon 4c.1018_1019delGAp.(Glu340Glnfs*8)Not classifiedTo be validated
 2011-03-04
exon 4c.1104T>Cp.(=)Not classifiedTo be validated
 2009-06-17
exon 4c.1104T>Gp.(Ile368Met)Not classifiedTo be validated
 2011-01-13
exon 4c.1137G>Ap.(=)Not classifiedTo be validated
 2006-08-11
exon 4c.1137G>Cp.(Lys379Asn)Not classifiedTo be validated
 2007-08-15
exon 4c.1138G>Cp.(Gly380Arg)Not classifiedTo be validated
 2009-04-03
exon 4c.1148C>Tp.(Pro383Leu)Not classifiedTo be validated
 2012-10-30
exon 4c.1168delp.(Arg390Alafs*26)Not classifiedTo be validated
 2017-11-16
exon 4c.1169G>Ap.(Arg390His)Not classifiedTo be validated
 2009-02-04
exon 4c.1171A>Gp.(Thr391Ala)Not classifiedTo be validated
 2012-10-30
exon 4c.1182C>Tp.(=)Not classifiedTo be validated
 2009-07-28
exon 4c.1193T>Gp.(Leu398Arg)Not classifiedTo be validated
 2009-03-23
exon 4c.1196G>Ap.(Cys399Tyr)Not classifiedTo be validated
 2007-08-15
exon 4c.1235T>Cp.(Leu412Pro)Not classifiedTo be validated
 2012-10-30
exon 4c.1237C>Tp.(Arg413Trp)Not classifiedTo be validated
 2011-01-12
exon 4c.1238G>Ap.(Arg413Gln)Not classifiedTo be validated
 2012-02-23
exon 4c.1280T>Cp.(Met427Thr)Not classifiedTo be validated
 2009-02-04
exon 4c.1288T>Cp.(Phe430Leu)Not classifiedTo be validated
 2009-03-03
exon 4c.1290C>Tp.(=)Not classifiedTo be validated
 2009-02-04
exon 4c.1294C>Tp.(Arg432*)Not classifiedTo be validated
 2008-07-11
exon 4c.1302C>Tp.(=)Not classifiedTo be validated
 2009-02-04
exon 4c.1305G>Tp.(=)Not classifiedTo be validated
 2012-02-29
exon 4c.1362C>Tp.(=)Not classifiedTo be validated
 2011-01-26
exon 4c.1374_1375delAGp.(Arg458Serfs*69)Not classifiedTo be validated
 2014-04-01
exon 4c.1441G>Ap.(Ala481Thr)Not classifiedTo be validated
 2007-10-17
exon 4c.1456dupGp.(Glu486Glyfs*42)Not classifiedTo be validated
 2009-04-03
exon 4c.1460G>Ap.(Gly487Glu)Not classifiedTo be validated
 2007-10-23
exon 4c.1480G>Ap.(Ala494Thr)Not classifiedTo be validated
 2011-10-30
exon 4c.1491C>Tp.(=)Not classifiedTo be validated
 2007-10-17
exon 4c.1492G>Ap.(Gly498Arg)Not classifiedTo be validated
 2009-02-04
exon 4c.1516G>Tp.(Gly506*)Not classifiedTo be validated
 2017-11-16
exon 4c.1517_1518ins22p.(Glu508Aspfs*27)Not classifiedTo be validated
 2013-06-25
exon 4c.1532A>Gp.(Lys511Arg)Not classifiedTo be validated
 2008-05-16
exon 4c.1537C>Tp.(Pro513Ser)Not classifiedTo be validated
 2012-03-07
exon 4c.1548_1566dup;1566_1567insAF15169.2:g.106_419p.?Not classifiedTo be validated
 2017-11-16
exon 4c.1557delp.(His520Thrfs*46)Not classifiedTo be validated
 2017-11-16
exon 4c.1625_1700del76p.(Met542Thrfs*2)Not classifiedTo be validated
 2010-04-06
exon 4c.1708G>Tp.(Glu570*)Not classifiedTo be validated
 2009-01-28
exon 4c.1725G>Tp.(=)Not classifiedTo be validated
 2007-10-23
exon 4c.1770G>Ap.(=)Not classifiedTo be validated
 2012-06-27
exon 4c.1823C>Tp.(Ser608Phe)Not classifiedTo be validated
 2012-10-30
exon 4c.1908dupp.(Glu637*)Not classifiedTo be validated
 2015-10-22
intron 4c.1931+18A>T-Not classifiedTo be validated
 2008-07-11
intron 4c.1931+43C>T-Not classifiedTo be validated
 2008-07-11
intron 4c.1931+49C>T-Not classifiedTo be validated
 2011-03-04
intron 4c.1931+110T>C-Not classifiedTo be validated
 2008-07-11
intron 4c.1931+176G>T-Not classifiedTo be validated
 2008-07-11
intron 4c.1931+226C>G-Not classifiedTo be validated
 2008-07-11
intron 4c.1932-296A>T-Not classifiedTo be validated
 2011-03-04
intron 4c.1932-178delT-Not classifiedTo be validated
 2008-03-01
intron 4c.1932-146C>T-Not classifiedTo be validated
 2008-03-01
intron 4c.1932-103G>C-Not classifiedTo be validated
 2008-03-01
intron 4c.1932-71A>G-Not classifiedTo be validated
 2012-03-07
intron 4c.1932-57T>C-Not classifiedTo be validated
 2008-03-01
intron 4c.1932-53C>T-Not classifiedTo be validated
 2011-03-04
exon 5c.1951C>Tp.(Pro651Ser)Not classifiedTo be validated
 2009-03-23
exon 5c.1970A>Tp.(Asp657Val)Not classifiedTo be validated
 2007-05-28
exon 5c.1981C>Tp.(Leu661Phe)Not classifiedTo be validated
 2013-10-12
exon 5c.2002T>Cp.(Cys668Arg)Not classifiedTo be validated
 2017-11-15
exon 5c.2018C>Gp.(Ser673*)Not classifiedTo be validated
 2009-04-03
exon 5c.2024G>Cp.(Ser675Thr)Not classifiedTo be validated
 2009-06-17
exon 5c.2030delTp.(Leu677Profs*6)Not classifiedTo be validated
 2009-03-24
exon 5c.2077C>Tp.(Arg693Trp)Not classifiedTo be validated
 2006-08-10
exon 5c.2077C>Gp.(Arg693Gly)Not classifiedTo be validated
 2009-02-10
exon 5c.2078G>Cp.(Arg693Pro)Not classifiedTo be validated
 2006-08-10
exon 5c.2078G>Ap.(Arg693Gln)Not classifiedTo be validated
 2008-12-06
exon 5c.2094C>Tp.(=)Not classifiedTo be validated
 2008-06-23
exon 5c.2095G>Ap.(Val699Ile)Not classifiedTo be validated
 2009-06-17
exon 5c.2101C>Tp.(Arg701Cys)Not classifiedTo be validated
 2008-07-11
intron 5c.2129+6T>C-Not classifiedTo be validated
 2008-05-16
intron 5c.2129+38G>C-Not classifiedTo be validated
 2008-03-01
intron 5c.2129+214C>T-Not classifiedTo be validated
 2008-07-11
intron 5c.2129+313C>G-Not classifiedTo be validated
 2008-07-11
intron 5c.2129+399G>A-Not classifiedTo be validated
 2008-07-11
intron 5c.2129+432T>C-Not classifiedTo be validated
 2008-07-11
intron 5c.2129+451C>T-Not classifiedTo be validated
 2008-07-11
intron 5c.2130-718G>A-Not classifiedTo be validated
 2008-07-11
intron 5c.2130-312_2300+736del1219-Not classifiedTo be validated
 2010-04-06
intron 5c.2130-304C>G-Not classifiedTo be validated
 2008-07-11
intron 5c.2130-266_2300+782delp.(Ile711_Arg767del)Not classifiedTo be validated
 2014-09-24
intron 5c.2130-184delT-Not classifiedTo be validated
 2011-03-04
intron 5c.2130-57A>G-Not classifiedTo be validated
 2011-03-04
intron 5c.2130-41T>G-Not classifiedTo be validated
 2008-03-01
intron 5c.2130-7_2131delp.(Ile711_Arg767del)Not classifiedTo be validated
 2014-09-22
intron 5c.2130-2A>G-Not classifiedTo be validated
 2013-06-25
exon 6c.2140G>Ap.(Val714Ile)Not classifiedTo be validated
 2012-10-30
exon 6c.2146C>Gp.(Pro716Ala)Not classifiedTo be validated
 2009-03-23
exon 6c.2147delCp.(Pro716Leufs*21)Not classifiedTo be validated
 2009-03-23
exon 6c.2156C>Tp.(Ala719Val)Not classifiedTo be validated
 2008-07-07
exon 6c.2161C>Tp.(Arg721Trp)Not classifiedTo be validated
 2008-06-23
exon 6c.2162G>Ap.(Arg721Gln)Not classifiedTo be validated
 2009-12-17
exon 6c.2165A>Gp.(Asp722Gly)Not classifiedTo be validated
 2008-07-11
exon 6c.2226C>Tp.(=)Not classifiedTo be validated
 2012-10-17
exon 6c.2227G>Tp.(Glu743*)Not classifiedTo be validated
 2017-11-16
exon 6c.2248C>Gp.(Leu750Val)Not classifiedTo be validated
 2007-12-25
exon 6c.2282G>Ap.(Cys761Tyr)Not classifiedTo be validated
 2009-03-23
intron 6c.2300+12G>A-Not classifiedTo be validated
 2011-03-04
intron 6c.2300+17C>A-Not classifiedTo be validated
 2008-01-03
intron 6c.2300+34T>C-Not classifiedTo be validated
 2008-01-03
intron 6c.2300+47A>G-Not classifiedTo be validated
 2009-07-28
intron 6c.2300+57T>C-Not classifiedTo be validated
 2008-01-03
intron 6c.2300+128C>T-Not classifiedTo be validated
 2008-03-01
intron 6c.2300+322C>T-Not classifiedTo be validated
 2008-07-11
intron 6c.2300+331A>G-Not classifiedTo be validated
 2008-07-11
intron 6c.2300+340delT-Not classifiedTo be validated
 2011-03-04
intron 6c.2301-611_2377delp.(Arg767Argfs*12)Not classifiedTo be validated
 2009-12-17
intron 6c.2301-58A>G-Not classifiedTo be validated
 2011-03-04
intron 6c.2301-44A>T-Not classifiedTo be validated
 2011-03-04
exon 7c.2325G>Ap.(=)Not classifiedTo be validated
 2009-02-04
exon 7c.2327_2333delp.(Glu776Glyfs*14)Not classifiedTo be validated
 2017-11-16
exon 7c.2334G>Ap.(Trp778*)Not classifiedTo be validated
 2009-04-03
exon 7c.2364C>Tp.(=)Not classifiedTo be validated
 2012-10-17
exon 7c.2383C>Tp.(Arg795Cys)Not classifiedTo be validated
 2009-06-17
exon 7c.2444G>Ap.(Arg815His)Not classifiedTo be validated
 2008-12-28
exon 7c.2458delCp.(Leu820Cysfs*29)Not classifiedTo be validated
 2014-04-01
exon 7c.2468T>Ap.(Leu823*)Not classifiedTo be validated
 2010-04-06
intron 7c.2471+1G>Ap.(Leu825*)Not classifiedTo be validated
 2006-08-10
intron 7c.2471+47A>G-Not classifiedTo be validated
 2012-02-29
intron 7c.2471+81_2471+82insG-Not classifiedTo be validated
 2008-03-01
intron 7c.2472-181G>A-Not classifiedTo be validated
 2008-07-11
intron 7c.2472-126A>G-Not classifiedTo be validated
 2008-03-05
intron 7c.2472-67A>G-Not classifiedTo be validated
 2008-03-01
exon 8c.2482_2483delTGp.(Cys828Serfs*40)Not classifiedTo be validated
 2012-07-14
exon 8c.2497G>Ap.(Ala833Thr)Not classifiedTo be validated
 2009-06-17
exon 8c.2571dupCp.(Ile858Hisfs*11)Not classifiedTo be validated
 2009-12-17
exon 8c.2616C>Ap.(Tyr872*)Not classifiedTo be validated
 2012-02-10
exon 8c.2639T>Cp.(Leu880Ser)Not classifiedTo be validated
 2008-05-16
intron 8c.2642+114G>A-Not classifiedTo be validated
 2009-07-28
intron 8c.2643-1390T>C-Not classifiedTo be validated
 2008-07-11
intron 8c.2643-364G>T-Not classifiedTo be validated
 2008-07-11
intron 8c.2643-246T>G-Not classifiedTo be validated
 2008-07-11
exon 9c.2682T>Cp.(=)Not classifiedTo be validated
 2007-05-28
exon 9c.2706C>Tp.(=)Not classifiedTo be validated
 2008-03-01
exon 9c.2721C>Tp.(=)Not classifiedTo be validated
 2008-05-16
exon 9c.2738A>Gp.(Asn913Ser)Not classifiedTo be validated
 2006-08-10
exon 9c.2759G>Ap.(Trp920*)Not classifiedTo be validated
 2015-10-22
exon 9c.2775A>Gp.(=)Not classifiedTo be validated
 2007-05-28
exon 9c.2777T>Gp.(Leu926*)Not classifiedTo be validated
 2013-06-05
exon 9c.2791_2792delTGp.(Cys931*)Not classifiedTo be validated
 2009-06-17
intron 9c.2810+2T>G-Not classifiedTo be validated
 2007-12-25
intron 9c.2810+26T>C-Not classifiedTo be validated
 2008-07-11
intron 9c.2810+57T>C-Not classifiedTo be validated
 2008-03-01
intron 9c.2810+98C>T-Not classifiedTo be validated
 2008-01-03
intron 9c.2810+123G>A-Not classifiedTo be validated
 2008-01-03
intron 9c.2810+126T>C-Not classifiedTo be validated
 2008-01-03
intron 9c.2810+171T>A-Not classifiedTo be validated
 2008-03-01
intron 9c.2810+176T>C-Not classifiedTo be validated
 2011-03-04
intron 9c.2810+224G>A-Not classifiedTo be validated
 2008-07-11
intron 9c.2810+276A>G-Not classifiedTo be validated
 2011-03-04
intron 9c.2810+2699G>C-Not classifiedTo be validated
 2008-05-16
intron 9c.2811-1214C>T-Not classifiedTo be validated
 2008-07-11
intron 9c.2811-695T>C-Not classifiedTo be validated
 2008-07-11
intron 9c.2811-678C>A-Not classifiedTo be validated
 2008-07-11
intron 9c.2811-559A>G-Not classifiedTo be validated
 2008-03-05
intron 9c.2811-527C>T-Not classifiedTo be validated
 2011-03-04
intron 9c.2811-523C>T-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-496T>C-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-416C>A-Not classifiedTo be validated
 2011-03-04
intron 9c.2811-402C>T-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-399A>G-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-394G>T-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-376G>A-Not classifiedTo be validated
 2011-03-04
intron 9c.2811-329A>G-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-312C>A-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-279G>T-Not classifiedTo be validated
 2011-03-04
intron 9c.2811-228T>C-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-194A>T-Not classifiedTo be validated
 2011-03-04
intron 9c.2811-178G>A-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-135C>T-Not classifiedTo be validated
 2008-07-11
intron 9c.2811-114G>A-Not classifiedTo be validated
 2011-03-04
intron 9c.2811-54T>G-Not classifiedTo be validated
 2008-01-03
intron 9c.2811-37C>T-Not classifiedTo be validated
 2008-03-05
intron 9c.2811-34T>G-Not classifiedTo be validated
 2008-03-01
intron 9c.2811-28C>T-Not classifiedTo be validated
 2008-05-16
intron 9c.2811-25G>C-Not classifiedTo be validated
 2008-08-21
intron 9c.2811-23A>G-Not classifiedTo be validated
 2008-01-03
intron 9c.2811-15G>A-Not classifiedTo be validated
 2014-09-16
exon 10c.2891T>Cp.(Leu964Pro)Not classifiedTo be validated
 2008-05-16
exon 10c.2940_2941insCp.(Gly981Argfs*19)Not classifiedTo be validated
 2013-10-20
intron 10c.2981+29_2981+32del-Not classifiedTo be validated
 2008-01-03
intron 10c.2981+33G>T-Not classifiedTo be validated
 2008-07-11
intron 10c.2981+123T>C-Not classifiedTo be validated
 2008-03-01
intron 10c.2981+142C>A-Not classifiedTo be validated
 2008-03-01
intron 10c.2981+363T>C-Not classifiedTo be validated
 2011-03-04
intron 10c.2982-401T>C-Not classifiedTo be validated
 2011-03-04
intron 10c.2982-28delG-Not classifiedTo be validated
 2008-01-03
intron 10c.2982-2A>G-Not classifiedTo be validated
 2013-06-05
exon 11c.3082A>Gp.(Thr1028Ala)Not classifiedTo be validated
 2007-10-17
3UTc.*5C>T-Not classifiedTo be validated
 2011-03-04
3UTc.*20C>T-Not classifiedTo be validated
 2011-03-04
3UTc.*44G>A-Not classifiedTo be validated
 2011-03-04
3UTc.*180G>C-Not classifiedTo be validated
 2008-03-05
3UTc.*236C>T-Not classifiedTo be validated
 2011-03-04
3 flankingc.*290T>C-Not classifiedTo be validated
 2008-03-01