Infevers - Tabular list

^*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

^**This classification is proposed by R Fisher, S Rojas, R Slim, I Touitou. If you have new data: please send us a re-evaluation proposal here

Location	HGVS sequence name	HGVS protein name	Usual name^*	Classification^**	Status^**	Input date	Last update
exon 6	c.2204A>C	p.(His735Pro)	H735P	Uncertain significance (VUS)	PROVISIONAL	2019-04-10	2022-01-24
exon 4	c.1280T>C	p.(Met427Thr)	M427T	Uncertain significance (VUS)	VALIDATED	2009-02-04	2022-01-24
exon 4	c.1823C>T	p.(Ser608Phe)	S608F	Uncertain significance (VUS)	VALIDATED	2012-10-30	2022-01-19
exon 9	c.2760G>A	p.(Trp920*)	W920*(2760)	Pathogenic	VALIDATED	2021-02-03	2022-01-19
exon 5	c.1959G>A	p.(Trp653*)	W653*	Pathogenic	VALIDATED	2021-06-18	2021-07-08
exon 4	c.1480G>A	p.(Ala494Thr)	A494T	Uncertain significance (VUS)	VALIDATED	2011-10-30	2021-05-26
exon 6	c.2156C>T	p.(Ala719Val)	A719V	Uncertain significance (VUS)	VALIDATED	2008-07-07	2021-05-26
5 flanking	c.-3998_2130-668del	p.?	c.-3998_2130-668del	Pathogenic	VALIDATED	2015-11-15	2021-05-26
intron 5	c.2130-7_2131del	p.Ile711_Arg767del	c.2130-6_2132del	Likely pathogenic	VALIDATED	2014-09-22	2021-05-26
exon 4	c.1196G>A	p.(Cys399Tyr)	C399Y	Uncertain significance (VUS)	VALIDATED	2007-08-15	2021-05-26
exon 6	c.2282G>A	p.(Cys761Tyr)	C761Y	Uncertain significance (VUS)	VALIDATED	2009-03-23	2021-05-26
exon 5	c.1970A>T	p.(Asp657Val)	D657V	Pathogenic	VALIDATED	2007-05-28	2021-05-26
exon 6	c.2165A>G	p.(Asp722Gly)	D722G	Uncertain significance (VUS)	VALIDATED	2008-07-11	2021-05-26
exon 4	c.1018G>A	p.(Glu340Lys)	E340K	Uncertain significance (VUS)	VALIDATED	2011-01-12	2021-05-26
exon 4	c.1517_1518ins22	p.(Glu508Aspfs*27)	E508DfsX27	Pathogenic	VALIDATED	2013-06-25	2021-05-26
exon 4	c.1708G>T	p.(Glu570*)	E570X	Pathogenic	VALIDATED	2009-01-28	2021-05-26
exon 7	c.2327_2333del	p.(Glu776Glyfs*14)	E776Gfs*14	Pathogenic	VALIDATED	2017-11-16	2021-05-26
exon 4	c.750C>A	p.(Phe250Leu)	F250L	Uncertain significance (VUS)	VALIDATED	2010-04-06	2021-05-26
exon 4	c.1492G>A	p.(Gly498Arg)	G498R	Uncertain significance (VUS)	VALIDATED	2009-02-04	2021-05-26
exon 6	c.2226C>T	p.(Ile742=)	I742I	Likely benign	VALIDATED	2012-10-17	2021-05-26
exon 8	c.2573T>C	p.(Ile858Thr)	I858T	Uncertain significance (VUS)	VALIDATED	2015-10-27	2021-05-26
intron 3	c.352+1G>A	p.(Gly118Aspfs*3)	IVS3+1G>A	Pathogenic	VALIDATED	2006-08-10	2021-05-26
intron 7	c.2471+1G>A	p.Leu825*	IVS7+1G>A	Pathogenic	VALIDATED	2006-08-10	2021-05-26
exon 4	c.1532A>G	p.(Lys511Arg)	K511R	Benign	VALIDATED	2008-05-16	2021-05-26
exon 4	c.701T>C	p.(Leu234Ser)	L234S	Uncertain significance (VUS)	VALIDATED	2010-02-03	2021-05-26
exon 4	c.931C>A	p.(Leu311Ile)	L311I	Likely benign	VALIDATED	2010-07-22	2021-05-26
exon 4	c.1193T>G	p.(Leu398Arg)	L398R	Likely pathogenic	VALIDATED	2009-03-23	2021-05-26
exon 4	c.1362C>T	p.(Leu454=)	L454L	Likely benign	VALIDATED	2011-01-26	2021-05-26
exon 5	c.2030delT	p.(Leu677Profs*6)	L677PfsX6	Pathogenic	VALIDATED	2009-03-24	2021-05-26
exon 6	c.2248C>G	p.(Leu750Val)	L750V	Pathogenic	VALIDATED	2007-12-25	2021-05-26
exon 10	c.2891T>C	p.(Leu964Pro)	L964P	Uncertain significance (VUS)	VALIDATED	2008-05-16	2021-05-26
exon 9	c.2738A>G	p.(Asn913Ser)	N913S	Pathogenic	VALIDATED	2006-08-10	2021-05-26
exon 4	c.1770G>A	p.(Pro590=)	P590P	Likely benign	VALIDATED	2012-06-27	2021-05-26
exon 5	c.1951C>T	p.(Pro651Ser)	P651S	Pathogenic	VALIDATED	2009-03-23	2021-05-26
exon 6	c.2146C>G	p.(Pro716Ala)	P716A	Likely pathogenic	VALIDATED	2009-03-23	2021-05-26
exon 6	c.2147delC	p.(Pro716Leufs*21)	P716LfsX21	Pathogenic	VALIDATED	2009-03-23	2021-05-26
exon 4	c.467G>A	p.(Arg156Gln)	R156Q	Likely benign	VALIDATED	2008-07-11	2021-05-26
exon 4	c.1169G>A	p.(Arg390His)	R390H	Uncertain significance (VUS)	VALIDATED	2009-02-04	2021-05-26
exon 4	c.1237C>T	p.(Arg413Trp)	R413W	Uncertain significance (VUS)	VALIDATED	2011-01-12	2021-05-26
exon 4	c.1294C>T	p.(Arg432*)	R432X	Pathogenic	VALIDATED	2008-07-11	2021-05-26
exon 5	c.1976G>T	p.(Arg659Leu)	R659L	Not classified	To be validated	2012-02-15	2021-05-26
exon 5	c.2077C>G	p.(Arg693Gly)	R693G	Likely pathogenic	VALIDATED	2009-02-10	2021-05-26
exon 5	c.2078G>C	p.(Arg693Pro)	R693P	Pathogenic	VALIDATED	2006-08-10	2021-05-26
exon 5	c.2078G>A	p.(Arg693Gln)	R693Q	Pathogenic	VALIDATED	2008-12-06	2021-05-26
exon 5	c.2101C>T	p.(Arg701Cys)	R701C	Uncertain significance (VUS)	VALIDATED	2008-07-11	2021-05-26
exon 7	c.2383C>T	p.(Arg795Cys)	R795C	Likely benign	VALIDATED	2009-06-17	2021-05-26
exon 7	c.2444G>A	p.(Arg815His)	R815H	Uncertain significance (VUS)	VALIDATED	2008-12-28	2021-05-26
exon 5	c.2024G>C	p.(Ser675Thr)	S675T	Uncertain significance (VUS)	VALIDATED	2009-06-17	2021-05-26
exon 2	c.183delC	p.(Ser62Profs*6)	T61TfsX7	Pathogenic	VALIDATED	2009-03-23	2021-05-26
exon 4	c.544G>A	p.(Val182Met)	V182M	Uncertain significance (VUS)	VALIDATED	2011-10-30	2021-05-26
exon 4	c.939_952dup14	p.(Tyr318Cysfs*7)	Y318CfsX7	Pathogenic	VALIDATED	2009-03-23	2021-05-26
exon 8	c.2616C>A	p.(Tyr872*)	Y872*	Pathogenic	VALIDATED	2012-02-10	2021-05-26
intron 1	c.-40+3G>C	p.0	c.-40+3G>C	Uncertain significance (VUS)	VALIDATED	2020-08-31	2021-02-16
5 flanking	c.-6831_-39-1586del	p.0	c.-6831_-39-1586del	Pathogenic	VALIDATED	2020-08-31	2021-02-16
exon 4	c.1812_1837dup	p.(His613Argfs*8)	H613Rfs*8	Likely pathogenic	VALIDATED	2019-04-10	2021-02-16
3 flanking	c.*236C>T	p.?	c.*236C>T	Not classified	To be validated	2011-03-04	2021-02-11
exon 4	c.1720dup	p.(Cys574Leufs*4)	c.1719_1720insT	Pathogenic	VALIDATED	2020-08-31	2020-11-24
exon 5	c.2111G>A	p.(Cys704Tyr)	C704Y	Likely pathogenic	VALIDATED	2020-07-03	2020-11-24
exon 11	c.3062A>T	p.(Asp1021Val)	D1021V	Not classified	To be validated	2020-07-03	2020-11-24
exon 4	c.1857_1858del	p.(Lys619Asnfs*18)	K619Nfs*18	Pathogenic	VALIDATED	2020-08-31	2020-11-24
exon 4	c.555_557del	p.(Thr185del)	T185del	Likely pathogenic	VALIDATED	2020-03-30	2020-11-24
exon 7	c.2458del	p.(Leu820Cysfs*29)	L820Cfs*29	Likely pathogenic	VALIDATED	2014-04-01	2020-11-22
exon 4	c.1625_1700del	p.(Met542Thrfs*2)	M542Tfs	Likely pathogenic	VALIDATED	2010-04-06	2020-11-22
exon 4	c.1861_1862del	p.(Ser621Thrfs*16)	S621Tfs*16	Pathogenic	VALIDATED	2020-09-03	2020-11-22
intron 5	c.2130-312_2300+736del	p.?	c.2130-312_2300+737del1218	Pathogenic	VALIDATED	2010-04-06	2020-10-27
exon 4	c.1738G>T	p.(Glu580*)	E580*	Pathogenic	VALIDATED	2020-09-03	2020-10-27
intron 5	c.2130-266_2300+782del	p.(Ile711_Arg767del)	c.2130-266_2300+782del	Pathogenic	VALIDATED	2014-09-24	2020-09-02
intron 9	c.2810+2T>G	p.Arg937_Leu938ins54	c.2810+2T>G	Pathogenic	VALIDATED	2007-12-25	2020-08-31
intron 6	c.2301-611_2377del	p.?	R767RfsX12	Pathogenic	VALIDATED	2009-12-17	2020-08-31
intron 1	c.-39-1769_2129+228del	p.?	c.-39-1769_2129+228del	Pathogenic	VALIDATED	2015-11-27	2020-08-27
intron 1	c.-40+251_2130-681del	p.?	c.-40+251_2130-681del	Pathogenic	VALIDATED	2015-11-15	2020-08-27
5 flanking	c.-7026_-40+2300del	p.?	c.-7026_-40+2300del	Likely pathogenic	VALIDATED	2017-11-16	2020-08-27
exon 4	c.1565_1566ins[[AF15169.2:g.106_419];1548_1565]	p.?	c.1548_1566dup;1566_1567insAF15169.2:g.106_419]	Pathogenic	VALIDATED	2017-11-16	2020-08-27
exon 4	c.1456dupG	p.(Glu486Glyfs*42)	E486GfsX42	Pathogenic	VALIDATED	2009-04-03	2020-08-27
exon 4	c.1138G>C	p.(Gly380Arg)	G380R	Uncertain significance (VUS)	PROVISIONAL	2009-04-03	2020-08-27
exon 8	c.2571dupC	p.(Ile858Hisfs*11)	I858HfsX11	Pathogenic	VALIDATED	2009-12-17	2020-08-27
exon 3	c.346A>T	p.(Lys116*)	K116X	Pathogenic	VALIDATED	2009-04-03	2020-08-27
exon 4	c.1235T>C	p.(Leu412Pro)	L412P	Uncertain significance (VUS)	VALIDATED	2012-10-30	2020-08-27
exon 9	c.2777T>G	p.(Leu926*)	L926*	Pathogenic	VALIDATED	2013-06-05	2020-08-27
exon 4	c.1148C>T	p.(Pro383Leu)	P383L	Uncertain significance (VUS)	VALIDATED	2012-10-30	2020-08-27
exon 5	c.2018C>G	p.(Ser673*)	S673X	Pathogenic	VALIDATED	2009-04-03	2020-08-27
exon 4	c.1171A>G	p.(Thr391Ala)	T391A	Uncertain significance (VUS)	VALIDATED	2012-10-30	2020-08-27
exon 4	c.835G>T	p.(Val279Leu)	V279L	Uncertain significance (VUS)	VALIDATED	2012-10-30	2020-08-27
exon 6	c.2140G>A	p.(Val714Ile)	V714I	Uncertain significance (VUS)	VALIDATED	2012-10-30	2020-08-27
exon 4	c.584G>A	p.(Trp195*)	W195X	Pathogenic	VALIDATED	2015-11-27	2020-08-27
exon 7	c.2334G>A	p.(Trp778*)	W778X	Pathogenic	VALIDATED	2009-04-03	2020-08-27
exon 9	c.2759G>A	p.(Trp920*)	W920*	Pathogenic	VALIDATED	2015-10-22	2020-08-27
exon 4	c.1392C>G	p.(Tyr464*)	Y464*	Pathogenic	VALIDATED	2019-04-10	2020-08-27
intron 1	c.-39-231_2130-510del	p.0	c.-39-231_2130-510del	Pathogenic	VALIDATED	2014-09-22	2020-07-24
5 flanking	c.-13413_2982-344del	p.0	c.-13413_2982-344del	Pathogenic	VALIDATED	2015-11-15	2020-07-21
intron 5	c.2130-2A>G	p.?	c.2130-2A>G	Likely pathogenic	VALIDATED	2013-06-25	2020-07-06
intron 2	c.277+1G>C	p.?	c.277+1G>C	Pathogenic	VALIDATED	2011-09-02	2020-07-06
intron 10	c.2982-2A>G	p.?	c.2982-2A>G	Pathogenic	VALIDATED	2013-06-05	2020-07-06
exon 4	c.1018_1020delinsCAAAA	p.(Glu340Glnfs*11)	E340Qfs*11	Pathogenic	VALIDATED	2011-03-04	2020-07-06
exon 4	c.986G>A	p.(Arg329Lys)	R329K	Uncertain significance (VUS)	PROVISIONAL	2007-11-21	2020-07-06
exon 6	c.2162G>A	p.(Arg721Gln)	R721Q	Pathogenic	VALIDATED	2009-12-17	2020-07-03
exon 4	c.1374_1375delAG	p.(Arg458Serfs*69)	R458Sfs*69	Pathogenic	VALIDATED	2014-04-01	2020-06-18
exon 4	c.446A>G	p.(Asp149Gly)	D149G	Uncertain significance (VUS)	VALIDATED	2012-10-30	2020-06-12
exon 8	c.2482_2483delTG	p.(Cys828Serfs*40)	c.2482_2483delTG	Pathogenic	VALIDATED	2012-07-14	2020-04-12
exon 5	c.2002T>C	p.(Cys668Arg)	C668R	Uncertain significance (VUS)	VALIDATED	2017-11-15	2020-04-12
exon 9	c.2791_2792delTG	p.(Cys931*)	C931X	Pathogenic	VALIDATED	2009-06-17	2020-04-12
exon 3	c.337dupG	p.(Glu113Glyfs*7)	E113GfsX7	Pathogenic	VALIDATED	2009-03-23	2020-04-12
exon 4	c.1908dup	p.(Glu637*)	E637*	Likely pathogenic	VALIDATED	2015-10-22	2020-04-12
intron 1	c.-39-387_2129+265dup	p.(Glu710Aspfs*7)	E710Dfs7X	Pathogenic	VALIDATED	2007-12-26	2020-04-12
exon 6	c.2227G>T	p.(Glu743*)	E743*	Pathogenic	VALIDATED	2017-11-16	2020-04-12
exon 3	c.295G>T	p.(Glu99*)	E99X	Likely pathogenic	VALIDATED	2007-05-28	2020-04-12
exon 4	c.1516G>T	p.(Gly506*)	G506*	Likely pathogenic	VALIDATED	2017-11-16	2020-04-12
exon 10	c.2940_2941insC	p.(Gly981Argfs*19)	G981Rfs	Pathogenic	VALIDATED	2013-10-20	2020-04-12
exon 4	c.1557del	p.(His520Thrfs*46)	H520Tfs*46	Pathogenic	VALIDATED	2017-11-16	2020-04-12
exon 4	c.394_395del	p.(Leu132Glyfs*12)	L132Gfs*12	Pathogenic	VALIDATED	2017-11-15	2020-04-12
exon 5	c.1981C>T	p.(Leu661Phe)	L661F	Uncertain significance (VUS)	VALIDATED	2013-10-12	2020-04-12
exon 8	c.2639T>C	p.(Leu880Ser)	L880S	Uncertain significance (VUS)	VALIDATED	2008-05-16	2020-04-12
exon 4	c.418C>T	p.(Gln140*)	Q140*	Pathogenic	VALIDATED	2017-11-16	2020-04-12
exon 4	c.930_931delGC	p.(Gln310Hisfs*38)	Q310Hfs*38	Pathogenic	VALIDATED	2009-07-02	2020-04-12
exon 4	c.1168del	p.(Arg390Alafs*26)	R390Afs*26	Likely pathogenic	VALIDATED	2017-11-16	2020-04-12
exon 5	c.2077C>T	p.(Arg693Trp)	R693W	Pathogenic	VALIDATED	2006-08-10	2020-04-12
exon 6	c.2161C>T	p.(Arg721Trp)	R721W	Pathogenic	VALIDATED	2008-06-23	2020-04-12
exon 4	c.693G>A	p.(Trp231*)	W231X	Pathogenic	VALIDATED	2012-07-14	2020-04-12
exon 2	c.197G>A	p.(Trp66*)	W66*	Pathogenic	VALIDATED	2016-05-05	2020-04-12
intron 3	c.352+231G>A	p.?	c.352+231G>A	Not classified	To be validated	2008-07-11	2019-06-18
intron 7	c.2471+81_2471+82insG	p.?	c.2471+81_82ins	Not classified	To be validated	2008-03-01	2019-03-11
intron 10	c.2981+29_2981+32del	p.?	c.2981+29_32delGTTT	Not classified	To be validated	2008-01-03	2019-03-11
intron 8	c.2642+114G>A	p.?	c.2642+114G>A	Not classified	To be validated	2009-07-28	2019-01-15
exon 4	c.1104T>G	p.(Ile368Met)	I368M	Uncertain significance (VUS)	VALIDATED	2011-01-13	2017-08-11
intron 2	c.278-134C>T	p.?	c.278-134C>T	Not classified	To be validated	2014-09-16	2014-09-17
intron 9	c.2811-15G>A	p.?	c.2811-15G>A	Not classified	To be validated	2014-09-16	2014-09-17
exon 4	c.1537C>T	p.(Pro513Ser)	P513S	Uncertain significance (VUS)	VALIDATED	2012-03-07	2013-03-01
intron 5	c.2129+6T>C	p.?	c.2129+6T>C	Not classified	To be validated	2008-05-16	2013-02-04
exon 7	c.2364C>T	p.(Asn788=)	N788N	Likely benign	VALIDATED	2012-10-17	2012-10-22
intron 1	c.-40+34T>G	p.?	c.-40+34T>G	Not classified	To be validated	2012-10-17	2012-10-18
intron 2	c.278-68A>G	p.?	c.278-68A>G	Not classified	To be validated	2012-06-28	2012-06-28
intron 1	c.-39-16C>T	p.?	c.-39-16C>T	Not classified	To be validated	2008-01-03	2012-03-29
intron 1	c.-39-300C>T	p.?	c.-39-300C>T	Not classified	To be validated	2008-03-07	2012-03-29
intron 1	c.-39-393G>A	p.?	c.-39-393G>A	Not classified	To be validated	2008-03-01	2012-03-29
intron 1	c.-39-427T>C	p.?	c.-39-427T>C	Not classified	To be validated	2008-03-01	2012-03-29
intron 1	c.-39-792C>T	p.?	c.-39-792C>T	Not classified	To be validated	2008-07-11	2012-03-29
intron 1	c.-39-90G>C	p.?	c.-39-90G>C	Not classified	To be validated	2008-07-11	2012-03-29
intron 1	c.-40+121G>A	p.?	c.-40+121G>A	Not classified	To be validated	2012-02-29	2012-03-29
intron 1	c.-40+21C>T	p.?	c.-40+21C>T	Not classified	To be validated	2008-03-07	2012-03-29
intron 1	c.-40+36C>T	p.?	c.-40+36C>T	Not classified	To be validated	2008-03-07	2012-03-29
exon 4	c.1238G>A	p.(Arg413Gln)	R413Q	Uncertain significance (VUS)	VALIDATED	2012-02-23	2012-02-23
exon 8	c.2497G>A	p.(Ala833Thr)	A833T	Uncertain significance (VUS)	VALIDATED	2009-06-17	2012-02-16
exon 7	c.2468T>A	p.(Leu823*)	L823X	Likely pathogenic	VALIDATED	2010-04-06	2011-05-27
intron 6	c.2301-44A>T	p.?	c.2301-44A>T	Not classified	To be validated	2011-03-04	2011-03-09
intron 6	c.2301-58A>G	p.?	c.2301-58A>G	Not classified	To be validated	2011-03-04	2011-03-09
intron 10	c.2981+363T>C	p.?	c.2981+363T>C	Not classified	To be validated	2011-03-04	2011-03-07
intron 10	c.2982-401T>C	p.?	c.2982-401T>C	Not classified	To be validated	2011-03-04	2011-03-07
3UT	c.*20C>T	p.?	c.*20C>T	Not classified	To be validated	2011-03-04	2011-03-04
3UT	c.*44G>A	p.?	c.*44G>A	Not classified	To be validated	2011-03-04	2011-03-04
3UT	c.*5C>T	p.?	c.*5C>T	Not classified	To be validated	2011-03-04	2011-03-04
intron 4	c.1931+49C>T	p.?	c.1931+49C>T	Not classified	To be validated	2011-03-04	2011-03-04
intron 4	c.1932-296A>T	p.?	c.1932-296A>T	Not classified	To be validated	2011-03-04	2011-03-04
intron 4	c.1932-53C>T	p.?	c.1932-53C>T	Not classified	To be validated	2011-03-04	2011-03-04
intron 5	c.2130-184delT	p.?	c.2130-184delT	Not classified	To be validated	2011-03-04	2011-03-04
intron 5	c.2130-57A>G	p.?	c.2130-57A>G	Not classified	To be validated	2011-03-04	2011-03-04
intron 6	c.2300+12G>A	p.?	c.2300+12G>A	Not classified	To be validated	2011-03-04	2011-03-04
intron 6	c.2300+340delT	p.?	c.2300+340delT	Not classified	To be validated	2011-03-04	2011-03-04
intron 6	c.2300+47A>G	p.?	c.2300+47A>G	Not classified	To be validated	2009-07-28	2011-03-04
intron 9	c.2810+176T>C	p.?	c.2810+176T>C	Not classified	To be validated	2011-03-04	2011-03-04
intron 9	c.2810+276A>G	p.?	c.2810+276A>G	Not classified	To be validated	2011-03-04	2011-03-04
intron 9	c.2811-114G>A	p.?	c.2811-114G>A	Not classified	To be validated	2011-03-04	2011-03-04
intron 9	c.2811-194A>T	p.?	c.2811-194A>T	Not classified	To be validated	2011-03-04	2011-03-04
intron 9	c.2811-279G>T	p.?	c.2811-279G>T	Not classified	To be validated	2011-03-04	2011-03-04
intron 9	c.2811-376G>A	p.?	c.2811-376G>A	Not classified	To be validated	2011-03-04	2011-03-04
intron 9	c.2811-416C>A	p.?	c.2811-416C>A	Not classified	To be validated	2011-03-04	2011-03-04
intron 9	c.2811-527C>T	p.?	c.2811-527C>T	Not classified	To be validated	2011-03-04	2011-03-04
intron 3	c.353-227A>G	p.?	c.353-227A>G	Not classified	To be validated	2011-03-04	2011-03-04
intron 3	c.353-231C>A	p.?	c.353-231C>A	Not classified	To be validated	2011-03-04	2011-03-04
intron 3	c.353-52T>G	p.?	c.353-52T>G	Not classified	To be validated	2011-03-04	2011-03-04
exon 4	c.628C>T	p.(Leu210Phe)	L210F	Uncertain significance (VUS)	VALIDATED	2011-03-04	2011-03-04
exon 4	c.1182C>T	p.(Phe394=)	F394F	Likely benign	VALIDATED	2009-07-28	2010-11-29
exon 4	c.829A>C	p.(Lys277Gln)	K277Q	Uncertain significance (VUS)	VALIDATED	2008-07-11	2010-08-27
exon 4	c.930G>T	p.(Leu311His)	L311H	Uncertain significance (VUS)	VALIDATED	2010-07-22	2010-08-20
exon 4	c.929A>G	p.(Gln310Arg)	Q310R	Likely benign	VALIDATED	2010-07-22	2010-08-20
exon 4	c.1288T>C	p.(Phe430Leu)	F430L	Uncertain significance (VUS)	VALIDATED	2009-03-03	2010-07-20
exon 2	c.219C>T	p.(Asn73=)	N73N	Likely benign	VALIDATED	2009-06-17	2010-07-20
exon 4	c.1302C>T	p.(Asp434=)	D434D	Likely benign	VALIDATED	2009-02-04	2010-02-25
exon 4	c.1460G>A	p.(Gly487Glu)	G487E	Benign	VALIDATED	2007-10-23	2010-02-25
exon 4	c.915A>C	p.(Ala305=)	A305A	Likely benign	VALIDATED	2009-06-17	2009-08-29
exon 2	c.251G>A	p.(Cys84Tyr)	C84Y	Uncertain significance (VUS)	VALIDATED	2007-08-15	2009-08-29
3UT	c.*180G>C	p.?	c.*180G>C	Not classified	To be validated	2008-03-05	2009-07-15
intron 4	c.1932-178delT	p.?	c.1932-178delT	Not classified	To be validated	2008-03-01	2009-07-02
exon 4	c.1137G>C	p.(Lys379Asn)	K379N	Likely benign	VALIDATED	2007-08-15	2009-06-26
exon 4	c.1104T>C	p.(Ile368=)	I368I	Likely benign	VALIDATED	2009-06-17	2009-06-21
exon 5	c.2095G>A	p.(Val699Ile)	V699I	Likely benign	VALIDATED	2009-06-17	2009-06-21
exon 11	c.3082A>G	p.(Thr1028Ala)	T1028A	Likely benign	VALIDATED	2007-10-17	2009-05-21
exon 4	c.1137G>A	p.(Lys379=)	K379K	Benign	VALIDATED	2006-08-11	2009-02-07
exon 4	c.574A>C	p.(Met192Leu)	M192L	Uncertain significance (VUS)	PROVISIONAL	2008-07-11	2009-02-07
exon 4	c.1290C>T	p.(Phe430=)	F430F	Likely benign	VALIDATED	2009-02-04	2009-02-06
exon 7	c.2325G>A	p.(Pro775=)	P775P	Likely benign	VALIDATED	2009-02-04	2009-02-05
exon 4	c.1441G>A	p.(Ala481Thr)	A481T	Benign	VALIDATED	2007-10-17	2008-11-06
intron 4	c.1931+176G>T	p.?	c.1931+176G>T	Not classified	To be validated	2008-07-11	2008-09-18
intron 4	c.1931+226C>G	p.?	c.1931+226C>G	Not classified	To be validated	2008-07-11	2008-09-18
intron 5	c.2129+214C>T	p.?	c.2129+214C>T	Not classified	To be validated	2008-07-11	2008-09-18
intron 5	c.2129+313C>G	p.?	c.2129+313C>G	Not classified	To be validated	2008-07-11	2008-09-18
intron 5	c.2129+399G>A	p.?	c.2129+399G>A	Not classified	To be validated	2008-07-11	2008-09-18
intron 5	c.2129+432T>C	p.?	c.2129+432T>C	Not classified	To be validated	2008-07-11	2008-09-18
intron 5	c.2129+451C>T	p.?	c.2129+451C>T	Not classified	To be validated	2008-07-11	2008-09-18
intron 5	c.2130-304C>G	p.?	c.2130-304C>G	Not classified	To be validated	2008-07-11	2008-09-18
intron 5	c.2130-718G>A	p.?	c.2130-718G>A	Not classified	To be validated	2008-07-11	2008-09-18
intron 6	c.2300+322C>T	p.?	c.2300+322C>T	Not classified	To be validated	2008-07-11	2008-09-18
intron 6	c.2300+331A>G	p.?	c.2300+331A>G	Not classified	To be validated	2008-07-11	2008-09-18
intron 7	c.2472-181G>A	p.?	c.2472-181G>A	Not classified	To be validated	2008-07-11	2008-09-18
intron 8	c.2643-1390T>C	p.?	c.2643-1390T>C	Not classified	To be validated	2008-07-11	2008-09-18
intron 8	c.2643-246T>G	p.?	c.2643-246T>G	Not classified	To be validated	2008-07-11	2008-09-18
intron 8	c.2643-364G>T	p.?	c.2643-364G>T	Not classified	To be validated	2008-07-11	2008-09-18
intron 4	c.1931+110T>C	p.?	c.1931+110T>C	Not classified	To be validated	2008-07-11	2008-09-11
exon 4	c.603C>T	p.(Ser201=)	S201S	Likely benign	VALIDATED	2007-10-31	2008-09-11
intron 9	c.2811-678C>A	p.?	c.2811-678C>A	Not classified	To be validated	2008-07-11	2008-08-27
intron 9	c.2811-695T>C	p.?	c.2811-695T>C	Not classified	To be validated	2008-07-11	2008-08-27
intron 9	c.2811-1214C>T	p.?	c.2811-1214C>T	Not classified	To be validated	2008-07-11	2008-08-25
intron 4	c.1931+18A>T	p.?	c.1931+18A>T	Not classified	To be validated	2008-07-11	2008-08-06
intron 9	c.2810+224G>A	p.?	c.2810+224G>A	Not classified	To be validated	2008-07-11	2008-08-06
intron 9	c.2810+26T>C	p.?	c.2810+26T>C	Not classified	To be validated	2008-07-11	2008-08-06
intron 9	c.2811-135C>T	p.?	c.2811-135C>T	Not classified	To be validated	2008-07-11	2008-08-06
intron 10	c.2981+33G>T	p.?	c.2981+33G>T	Not classified	To be validated	2008-07-11	2008-08-06
intron 3	c.353-235C>T	p.?	c.353-235C>T	Not classified	To be validated	2008-07-11	2008-08-06
intron 9	c.2811-178G>A	p.?	c.2811-178G>A	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-228T>C	p.?	c.2811-228T>C	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-23A>G	p.?	c.2811-23A>G	Not classified	To be validated	2008-01-03	2008-06-24
intron 9	c.2811-28C>T	p.?	c.2811-28C>T	Not classified	To be validated	2008-05-16	2008-06-24
intron 9	c.2811-312C>A	p.?	c.2811-312C>A	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-329A>G	p.?	c.2811-329A>G	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-34T>G	p.?	c.2811-34T>G	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-37C>T	p.?	c.2811-37C>T	Not classified	To be validated	2008-03-05	2008-06-24
intron 9	c.2811-394G>T	p.?	c.2811-394G>T	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-399A>G	p.?	c.2811-399A>G	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-402C>T	p.?	c.2811-402C>T	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-496T>C	p.?	c.2811-496T>C	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-523C>T	p.?	c.2811-523C>T	Not classified	To be validated	2008-03-01	2008-06-24
intron 9	c.2811-54T>G	p.?	c.2811-54T>G	Not classified	To be validated	2008-01-03	2008-06-24
intron 9	c.2811-559A>G	p.?	c.2811-559A>G	Not classified	To be validated	2008-03-05	2008-06-24
intron 10	c.2981+123T>C	p.?	c.2981+123T>C	Not classified	To be validated	2008-03-01	2008-06-24
intron 10	c.2981+142C>A	p.?	c.2981+142C>A	Not classified	To be validated	2008-03-01	2008-06-24
intron 10	c.2982-28delG	p.?	c.2982-28delG	Not classified	To be validated	2008-01-03	2008-06-24
exon 4	c.390G>A	p.(Gln130=)	Q130Q	Benign	VALIDATED	2006-08-11	2008-03-07
exon 9	c.2706C>T	p.(Ala902=)	A902A	Benign	VALIDATED	2008-03-01	2008-03-02
3 flanking	c.*290T>C	p.?	c.*290T>C	Not classified	To be validated	2008-03-01	2008-03-02
intron 4	c.1932-103G>C	p.?	c.1932-103G>C	Not classified	To be validated	2008-03-01	2008-03-02
intron 4	c.1932-146C>T	p.?	c.1932-146C>T	Not classified	To be validated	2008-03-01	2008-03-02
intron 4	c.1932-57T>C	p.?	c.1932-57T>C	Not classified	To be validated	2008-03-01	2008-03-02
intron 5	c.2129+38G>C	p.?	c.2129+38G>C	Not classified	To be validated	2008-03-01	2008-03-02
intron 5	c.2130-41T>G	p.?	c.2130-41T>G	Not classified	To be validated	2008-03-01	2008-03-02
intron 6	c.2300+128C>T	p.?	c.2300+128C>T	Not classified	To be validated	2008-03-01	2008-03-02
intron 7	c.2472-67A>G	p.?	c.2472-67A>G	Not classified	To be validated	2008-03-01	2008-03-02
exon 4	c.955G>A	p.(Val319Ile)	V319I	Benign	VALIDATED	2006-08-25	2008-03-02
exon 9	c.2682T>C	p.(Tyr894=)	Y894Y	Benign	VALIDATED	2007-05-28	2008-03-02
exon 9	c.2775A>G	p.(Ala925=)	A925A	Benign	VALIDATED	2007-05-28	2008-02-28
exon 4	c.1491C>T	p.(Ile497=)	I497I	Benign	VALIDATED	2007-10-17	2008-02-28
exon 4	c.1725G>T	p.(Leu575=)	L575L	Benign	VALIDATED	2007-10-23	2008-02-28
5 flanking	c.-122G>A	p.?	c.-122G>A	Not classified	To be validated	2012-02-29
intron 4	c.1931+43C>T	p.?	c.1931+43C>T	Not classified	To be validated	2008-07-11
intron 4	c.1932-71A>G	p.?	c.1932-71A>G	Not classified	To be validated	2012-03-07
intron 6	c.2300+17C>A	p.?	c.2300+17C>A	Not classified	To be validated	2008-01-03
intron 6	c.2300+34T>C	p.?	c.2300+34T>C	Not classified	To be validated	2008-01-03
intron 6	c.2300+57T>C	p.?	c.2300+57T>C	Not classified	To be validated	2008-01-03
intron 7	c.2471+47A>G	p.?	c.2471+47A>G	Not classified	To be validated	2012-02-29
intron 7	c.2472-126A>G	p.?	c.2472-126A>G	Not classified	To be validated	2008-03-05
intron 9	c.2810+123G>A	p.?	c.2810+123G>A	Not classified	To be validated	2008-01-03
intron 9	c.2810+126T>C	p.?	c.2810+126T>C	Not classified	To be validated	2008-01-03
intron 9	c.2810+171T>A	p.?	c.2810+171T>A	Not classified	To be validated	2008-03-01
intron 9	c.2810+57T>C	p.?	c.2810+57T>C	Not classified	To be validated	2008-03-01
intron 9	c.2810+98C>T	p.?	c.2810+98C>T	Not classified	To be validated	2008-01-03
intron 9	c.2811-25G>C	p.?	c.2811-25G>C	Not classified	To be validated	2008-08-21
intron 3	c.353-111C>T	p.?	c.353-111C>T	Not classified	To be validated	2008-03-05
intron 3	c.353-178A>G	p.?	c.353-178A>G	Not classified	To be validated	2008-03-01
intron 3	c.353-216C>G	p.?	c.353-216C>G	Not classified	To be validated	2008-03-01
intron 3	c.353-56A>G	p.?	c.353-56A>G	Not classified	To be validated	2008-01-03
intron 3	c.353-71C>T	p.?	c.353-71C>T	Not classified	To be validated	2008-05-16
exon 4	c.1017C>T	p.(Asp339=)	D339D	Likely benign	VALIDATED	2012-03-07
exon 4	c.749T>G	p.(Phe250Cys)	F250C	Uncertain significance (VUS)	VALIDATED	2010-07-22
exon 4	c.1614T>A	p.(Phe538Leu)	F538L	Not classified	To be validated	2021-01-11
exon 5	c.2094C>T	p.(His698=)	H698H	Likely benign	VALIDATED	2008-06-23
exon 4	c.1305G>T	p.(Leu435=)	L435L	Likely benign	VALIDATED	2012-02-29
exon 9	c.2721C>T	p.(Asn907=)	N907N	Likely benign	VALIDATED	2008-05-16

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

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