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 : 221

*This classification is proposed by the INSAID study group. Ref. If you have new data: please send us a re-evaluation proposal here

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
F566Y
exon 3
c.1697T>A
p.(Phe566Tyr)Likely pathogenicTo be validated
 2019-06-09
V351LGT
exon 3
c.1051G>T
p.(Val351Leu)Likely pathogenicTo be validated
 2019-06-09
R777C
exon 5
c.2329C>T
p.(Arg777Cys)Uncertain significance (VOUS)To be validated
 2019-06-09
R98H
exon 2
c.293G>A
p.(Arg98His)Uncertain significance (VOUS)To be validated
 2019-06-09
V70M
exon 1
c.208G>A
p.(Val70Met)Uncertain significance (VOUS)To be validated
 2019-06-09
E204G
exon 3
c.611A>G
p.(Glu204Gly)Not classifiedTo be validated
 2019-05-21
D787N
exon 5
c.2359G>A
p.(Asp787Asn)Uncertain significance (VOUS)To be validated
 2019-05-13
D88Y
exon 1
c.262G>T
p.(Asp88Tyr)Uncertain significance (VOUS)To be validated
 2019-05-13
M986I
exon 8
c.2958G>A
p.(Met986Ile)Uncertain significance (VOUS)To be validated
 2019-05-13
G779V
exon 5
c.2336G>T
p.(Gly779Val)Not classifiedTo be validated
 2019-04-19
I519T
exon 3
c.1556T>C
p.(Ile519Thr)Not classifiedTo be validated
 2018-10-15
p.L254M
exon 3
c.760C>A
p.(Leu254Met)Not classifiedTo be validated
 2018-02-27
D19H
exon 1
c.55G>C
p.(Asp19His)Likely pathogenicTo be validated
 2018-02-01
E605V
exon 3
c.1814A>T
p.(Glu605Val)Not classifiedTo be validated
 2017-12-20
R605G
exon 3
c.1807A>G
p.(Arg603Gly)Likely pathogenicTo be validated
 2017-09-28
G564S
exon 3
c.1690G>A
p.(Gly564Ser)Not classifiedTo be validated
 2017-09-24
Y563C
exon 3
c.1688A>G
p.(Tyr563Cys)Not classifiedTo be validated
 2017-09-24
R918Q
exon 7
c.2753G>A
p.(Arg918Gln)Not classifiedTo be validated
 2017-09-06
c.2322-194T>C
intron 4
c.2322-194T>C
-Likely benignVALIDATED
 2017-09-05
c.2322-197T>G
intron 4
c.2322-197T>G
-Likely benignVALIDATED
 2017-09-05
c.2322-224G>A
intron 4
c.2322-224G>A
-Likely benignVALIDATED
 2017-09-05
c.2322-225T>C
intron 4
c.2322-225T>C
-Likely benignVALIDATED
 2017-09-05
c.2492+82delG
intron 6
c.2492+82delG
-Likely benignVALIDATED
 2017-09-05
c.2493-133G>C
intron 6
c.2493-133G>C
-Likely benignVALIDATED
 2017-09-05
c.2493-40G>A
intron 6
c.2493-40G>A
-Likely benignVALIDATED
 2017-09-05
c.2663+71T>C
intron 6
c.2663+71T>C
-Likely benignVALIDATED
 2017-09-05
c.397+7G>A
intron 2
c.397+7G>A
-Likely benignVALIDATED
 2017-09-05
H711H
exon 3
c.2133T>C
p.(His711His)Likely benignVALIDATED
 2017-09-05
S896P
exon 7
c.2686T>C
p.(Ser896Pro)Uncertain significance (VOUS)VALIDATED
 2017-09-05
c.-40G>T
5UT
c.-40G>T
-Likely benignVALIDATED
 2017-09-05
G307D
exon 3
c.920G>A
p.(Gly307Asp)Not classifiedTo be validated
 2017-08-25
S332N
exon 3
c.995G>A
p.(Ser332Asn )Uncertain significance (VOUS)VALIDATED
 2017-08-18
A75V
exon 1
c.224C>T
p.(Ala75Val)Uncertain significance (VOUS)VALIDATED
 2017-08-18
F523Y
exon 3
c.1568T>A
p.(Phe523Tyr)Likely pathogenicVALIDATED
 2017-08-18
S678S
exon 3
c.2034C>T
p.(=)Likely benignVALIDATED
 2017-08-18
G227G
exon 3
c.681G>T
p.(=)Likely benignVALIDATED
 2017-08-18
L264P
exon 3
c.791T>C
p.(Leu264Pro)Likely pathogenicVALIDATED
 2017-08-16
Y570N
exon 3
c.1708T>A
p.(Tyr570Asn)Likely pathogenicVALIDATED
 2017-08-16
D31V
exon 1
c.86A>T
p.(Asp29Val)Not classifiedTo be validated
 2017-02-27
Y570H
exon 3
c.1708T>C
p.(Tyr570His)Not classifiedTo be validated
 2017-01-18
R176W
exon 1
c.526C>T
p.(Arg176Trp)Not classifiedTo be validated
 2016-12-21
P649S
exon 3
c.1945C>T
p.(Pro649Ser)Not classifiedTo be validated
 2016-09-27
Q636E
exon 3
c.1906C>G
p.(Gln636Glu)Not classifiedTo be validated
 2016-06-10
R260Q
exon 3
c.779G>A
p.(Arg260Gln)Not classifiedTo be validated
 2016-02-02
P200T
exon 3
c.598C>A
p.(Pro200Thr)Not classifiedTo be validated
 2015-03-31
T544M
exon 3
c.1625C>T
p.(Thr542Met)Uncertain significance (VOUS)VALIDATED
 2014-12-03
T195M
exon 3
c.578C>T
p.(Thr193Met)Uncertain significance (VOUS)PROVISIONAL
 2014-11-03
D280N
exon 3
c.838G>A
p.(Asp280Asn)Uncertain significance (VOUS)VALIDATED
 2014-04-01
D646Y
exon 3
c.1936G>T
p.(Asp646Tyr)Uncertain significance (VOUS)VALIDATED
 2014-02-24
H213R
exon 3
c.638A>G
p.(His213Arg)Uncertain significance (VOUS)PROVISIONAL
 2014-02-21
F579Y
exon 3
c.1736T>A
p.(Phe579Tyr)Not classifiedTo be validated
 2014-02-20
D303A
exon 3
c.908A>C
p.(Asp303Ala)Likely pathogenicVALIDATED
 2013-12-13
K355T
exon 3
c.1064A>C
p.(Lys355Thr)Likely pathogenicVALIDATED
 2013-12-13
L411L G>T
exon 3
c.1233G>T
p.(=)BenignVALIDATED
2013-12-13
R170S
exon 3
c.508C>A
p.(Arg170Ser)Likely pathogenicVALIDATED
 2013-12-13
E567A
exon 3
c.1700A>C
p.(Glu567Ala)Likely pathogenicVALIDATED
 2013-12-13
D211N
exon 3
c.631G>A
p.(Asp211Asn)Uncertain significance (VOUS)VALIDATED
 2013-08-30
A712S
exon 3
c.2134G>T
p.(Ala712Ser)Uncertain significance (VOUS)PROVISIONAL
 2013-08-16
M521T
exon 3
c.1562T>C
p.(Met521Thr)Uncertain significance (VOUS)VALIDATED
 2013-07-02
H49R
exon 1
c.146A>G
p.(His49Arg)Uncertain significance (VOUS)VALIDATED
 2013-07-01
T952M
exon 8
c.2855C>T
p.(Thr952Met)Uncertain significance (VOUS)VALIDATED
 2013-07-01
K435E
exon 3
c.1303A>G
p.(Lys435Glu)Uncertain significance (VOUS)PROVISIONAL
 2013-07-01
F309Y
exon 3
c.926T>A
p.(Phe309Tyr)Likely pathogenicVALIDATED
 2013-05-30
I288M
exon 3
c.864C>G
p.(Ile288Met)Uncertain significance (VOUS)VALIDATED
 2013-05-21
A69A
exon 1
c.207C>T
p.(=)BenignVALIDATED
 2013-05-06
E150E
exon 3
c.450A>G
p.(=)Likely benignVALIDATED
 2013-05-06
G301S
exon 3
c.901G>A
p.(Gly301Ser)UnsolvedUNSOLVED
 2013-05-06
T348T
exon 3
c.1044G>A
p.(=)BenignVALIDATED
 2013-05-06
L411V
exon 3
c.1231C>G
p.(Leu411Val)Likely pathogenicPROVISIONAL
 2013-05-06
I415I
exon 3
c.1245C>T
p.(=)Likely benignVALIDATED
 2013-05-06
Y441Y
exon 3
c.1323C>T
p.(=)Likely benignVALIDATED
 2013-05-06
R548C
exon 3
c.1642C>T
p.(Arg548Cys)UnsolvedUNSOLVED
 2013-05-06
L677P
exon 3
c.2030T>C
p.(Leu677Pro)Uncertain significance (VOUS)VALIDATED
 2013-05-06
Y859H
exon 6
c.2575T>C
p.(Tyr859His)Likely pathogenicVALIDATED
 2013-05-06
V860V
exon 6
c.2580G>T
p.(=)Likely benignVALIDATED
 2013-05-06
G866R
exon 6
c.2596G>A
p.(Gly866Arg)Uncertain significance (VOUS)VALIDATED
 2013-05-06
I598F
exon 3
c.1792A>T
p.(Ile598Phe)Likely pathogenicVALIDATED
 2013-03-29
P350L
exon 3
c.1049C>T
p.(Pro350Leu)UnsolvedUNSOLVED
 2013-02-05
K173E
exon 3
c.517A>G
p.(Lys173Glu)Uncertain significance (VOUS)VALIDATED
 2013-02-05
L369M
exon 3
c.1105C>A
p.(Leu369Met)Uncertain significance (VOUS)VALIDATED
 2012-09-03
T231T
exon 3
c.693A>T
p.(=)Likely benignVALIDATED
 2012-08-22
G755RG>A
exon 4
c.2263G>A
p.(Gly755Arg)PathogenicVALIDATED
 2012-05-07
G809S
exon 5
c.2425G>A
p.(Gly809Ser)Uncertain significance (VOUS)VALIDATED
 2012-01-12
E378K
exon 3
c.1132G>A
p.(Glu378Lys)Uncertain significance (VOUS)VALIDATED
 2012-01-12
c.398-15C>T
intron 2
c.398-15C>T
-Likely benignPROVISIONAL
 2012-01-03
K355N
exon 3
c.1065A>T
p.(Lys355Asn)Likely pathogenicPROVISIONAL
 2011-10-10
M406V
exon 3
c.1216A>G
p.(Met406Val)Likely pathogenicVALIDATED
 2011-10-10
T433I
exon 3
c.1298C>T
p.(Thr433Ile)Likely pathogenicPROVISIONAL
 2011-10-10
F566L
exon 3
c.1698C>A
p.(Phe566Leu)Likely pathogenicVALIDATED
 2011-10-10
K568N
exon 3
c.1704G>C
p.(Lys568Asn)Likely pathogenicVALIDATED
 2011-10-10
G307S
exon 3
c.919G>A
p.(Gly307Ser)Likely pathogenicVALIDATED
 2011-09-01
K375E
exon 3
c.1123A>G
p.(Lys375Glu)Uncertain significance (VOUS)VALIDATED
 2011-08-03
S726G
exon 4
c.2176A>G
p.(Ser726Gly)Uncertain significance (VOUS)VALIDATED
 2011-07-14
T193K
exon 3
c.578C>A
p.(Thr193Lys)Uncertain significance (VOUS)VALIDATED
 2011-01-04
R135H
exon 3
c.404G>A
p.(Arg135His)UnsolvedUNSOLVED
 2010-12-13
E525V
exon 3
c.1574A>T
p.(Glu525Val)Likely pathogenicVALIDATED
 2010-11-30
S595G
exon 3
c.1783A>G
p.(Ser595Gly)Likely pathogenicVALIDATED
 2010-11-30
c.398-229T>G
intron 2
c.398-229T>G
-Likely benignVALIDATED
 2010-09-29
E627D
exon 3
c.1881A>T
p.(Glu627Asp)Likely pathogenicVALIDATED
 2010-09-09
L467L
exon 3
c.1401C>T
p.(=)Likely benignVALIDATED
 2010-08-26
T266P
exon 3
c.796A>C
p.(Thr266Pro)Likely pathogenicPROVISIONAL
 2010-07-29
R325Q
exon 3
c.974G>A
p.(Arg325Gln)Uncertain significance (VOUS)VALIDATED
 2010-05-06
L571FG>C
exon 3
c.1713G>C
p.(Leu571Phe)Likely pathogenicVALIDATED
 2010-05-06
I334V
exon 3
c.1000A>G
p.(Ile334Val)Likely pathogenicPROVISIONAL
 2009-09-21
A352T
exon 3
c.1054G>A
p.(Ala352Thr)Likely pathogenicVALIDATED
 2009-06-19
Q306E
exon 3
c.916C>G
p.(Gln306Glu)Likely pathogenicPROVISIONAL
 2009-03-30
I313V
exon 3
c.937A>G
p.(Ile313Val)Uncertain significance (VOUS)PROVISIONAL
 2009-03-09
R325W
exon 3
c.973C>T
p.(Arg325Trp)Likely pathogenicVALIDATED
 2009-01-07
Y441H
exon 3
c.1321T>C
p.(Tyr441His)Uncertain significance (VOUS)VALIDATED
 2008-12-02
L233L
exon 3
c.699G>A
p.(=)Likely benignVALIDATED
 2008-10-23
M701T
exon 3
c.2102T>C
p.(Met701Thr)Uncertain significance (VOUS)PROVISIONAL
 2008-08-18
W414L
exon 3
c.1241G>T
p.(Trp414Leu)Likely pathogenicPROVISIONAL
 2008-08-05
E690K
exon 3
c.2068G>A
p.(Glu690Lys)UnsolvedUNSOLVED
 2008-04-28
A225V
exon 3
c.674C>T
p.(Ala225Val)Uncertain significance (VOUS)VALIDATED
 2008-04-23
M299V
exon 3
c.895A>G
p.(Met299Val)Uncertain significance (VOUS)VALIDATED
 2008-04-23
T436DEL
exon 3
c.1306_1308del
p.(Thr438del)Likely pathogenicPROVISIONAL
 2008-04-02
G569A
exon 3
c.1706G>C
p.(Gly569Ala)Likely pathogenicVALIDATED
 2008-03-13
L571F
exon 3
c.1713G>T
p.(Leu571Phe)Likely pathogenicVALIDATED
 2008-02-25
I572F
exon 3
c.1714A>T
p.(Ile572Phe)Likely pathogenicVALIDATED
 2008-02-25
V262G
exon 3
c.785T>G
p.(Val262Gly)Likely pathogenicPROVISIONAL
 2008-02-13
c.278-45T>C
intron 1
c.278-45T>C
-Likely benignVALIDATED
 2008-01-21
c.3005+25C>T
intron 8
c.3005+25C>T
-Likely benignVALIDATED
 2008-01-21
H312P
exon 3
c.935A>C
p.(His312Pro)Likely pathogenicVALIDATED
 2007-12-26
C148Y
exon 3
c.443G>A
p.(Cys148Tyr)Uncertain significance (VOUS)VALIDATED
 2007-12-24
E567K
exon 3
c.1699G>A
p.(Glu567Lys)Likely pathogenicVALIDATED
 2007-12-06
VNTR
intron 4
c.2322-527_2322-486(6_12)
-Not classifiedTo be validated
 2007-08-14
c.278-196T>C
intron 1
c.278-196T>C
-Likely benignVALIDATED
 2007-08-14
c.2150+59G>A
intron 3
c.2150+59G>A
-BenignVALIDATED
 2007-08-14
c.2663+859A>C
intron 6
c.2663+859A>C
-BenignVALIDATED
 2007-08-14
M406I
exon 3
c.1218G>C
p.(Met406Ile)Likely pathogenicVALIDATED
 2007-07-27
E304K
exon 3
c.910G>A
p.(Glu304Lys)PathogenicVALIDATED
 2007-07-03
E688K
exon 3
c.2062G>A
p.(Glu688Lys)Likely pathogenicVALIDATED
 2007-07-03
N477K
exon 3
c.1431C>A
p.(Asn477Lys)Likely pathogenicVALIDATED
 2007-07-03
T436A
exon 3
c.1306A>G
p.(Thr436Ala)Likely pathogenicVALIDATED
 2007-06-23
I480F
exon 3
c.1438A>T
p.(Ile480Phe)Likely pathogenicVALIDATED
 2007-05-23
L264V
exon 3
c.790C>G
p.(Leu264Val)Likely pathogenicVALIDATED
 2007-05-17
H458H
exon 3
c.1374C>T
p.(=)Likely benignVALIDATED
 2007-05-17
C259W
exon 3
c.777T>G
p.(Cys259Trp)Likely pathogenicVALIDATED
 2007-04-09
V262A
exon 3
c.785T>C
p.(Val262Ala)Likely pathogenicVALIDATED
 2007-04-09
L264F
exon 3
c.790C>T
p.(Leu264Phe)Likely pathogenicVALIDATED
 2007-04-09
F443L
exon 3
c.1329C>G
p.(Phe443Leu)Likely pathogenicVALIDATED
 2007-04-09
F523C
exon 3
c.1568T>G
p.(Phe523Cys)PathogenicVALIDATED
 2007-04-09
Y563N
exon 3
c.1687T>A
p.(Tyr563Asn)Likely pathogenicVALIDATED
 2007-04-09
D303H
exon 3
c.907G>C
p.(Asp303His)Likely pathogenicVALIDATED
 2007-03-15
A495V
exon 3
c.1484C>T
p.(Ala495Val)Uncertain significance (VOUS)VALIDATED
 2007-03-15
G755A
exon 4
c.2264G>C
p.(Gly755Ala)Likely pathogenicVALIDATED
 2007-01-10
V351L
exon 3
c.1051G>C
p.(Val351Leu)Likely pathogenicPROVISIONAL
 2006-10-22
L344L
exon 3
c.1032G>A
p.(=)BenignVALIDATED
 2006-09-01
G307V
exon 3
c.920G>T
p.(Gly307Val)Likely pathogenicVALIDATED
 2006-08-08
G755RG>C
exon 4
c.2263G>C
p.(Gly755Arg)PathogenicVALIDATED
 2006-08-08
E311K
exon 3
c.931G>A
p.(Glu311Lys)Likely pathogenicVALIDATED
 2006-08-08
T587I
exon 3
c.1760C>T
p.(Thr587Ile)Likely pathogenicPROVISIONAL
 2006-08-02
Y570F
exon 3
c.1709A>T
p.(Tyr570Phe)Likely pathogenicVALIDATED
 2006-04-04
T436P
exon 3
c.1306A>C
p.(Thr436Pro)Likely pathogenicVALIDATED
 2006-02-28
R168Q
exon 3
c.503G>A
p.(Arg168Gln)Likely pathogenicPROVISIONAL
 2006-01-25
V351M
exon 3
c.1051G>A
p.(Val351Met)Likely pathogenicPROVISIONAL
 2006-01-24
P315L
exon 3
c.944C>T
p.(Pro315Leu)Uncertain significance (VOUS)VALIDATED
 2006-01-23
T557A
exon 3
c.1669A>G
p.(Thr557Ala)Uncertain significance (VOUS)VALIDATED
 2006-01-11
c.2321+85A>G
intron 4
c.2321+85A>G
-BenignVALIDATED
 2005-12-29
R554X
exon 3
c.1660C>T
p.(Arg554*)Likely pathogenicVALIDATED
 2005-12-27
S196N
exon 3
c.587G>A
p.(Ser196Asn)Likely benignVALIDATED
 2005-12-24
c.3006-45_-44delAG
intron 8
c.3006-45_3006-44del
-Likely benignVALIDATED
 2005-12-19
c.*177delC
3UT
c.*177delC
-Likely benignPROVISIONAL
 2005-12-19
M659K
exon 3
c.1976T>A
p.(Met659Lys)PathogenicVALIDATED
 2005-08-16
E525K
exon 3
c.1573G>A
p.(Glu525Lys)Likely pathogenicVALIDATED
 2005-08-16
G326E
exon 3
c.977G>A
p.(Gly326Glu)Likely pathogenicVALIDATED
 2005-07-03
Y141Y
exon 3
c.423C>T
p.(=)Likely benignVALIDATED
 2005-05-23
c.3005+44C>A
intron 8
c.3005+44C>A
-BenignVALIDATED
 2005-04-19
c.*230C>G
3UT
c.*230C>G
-Not classifiedTo be validated
 2005-04-19
c.398-56C>T
intron 2
c.398-56C>T
-Likely benignVALIDATED
 2004-12-10
c.2322-76C>T
intron 4
c.2322-76C>T
-BenignVALIDATED
 2004-12-10
c.2322-55_2322-54ins42
intron 4
c.2322-55_2322-54ins42
-Not classifiedTo be validated
 2004-12-10
c.2322-40 G>A
intron 4
c.2322-40G>A
-BenignVALIDATED
 2004-12-07
S710C
exon 3
c.2129C>G
p.(Ser710Cys)Uncertain significance (VOUS)PROVISIONAL
 2004-11-15
P340P
exon 3
c.1020C>T
p.(=)BenignVALIDATED
 2004-09-21
A439P
exon 3
c.1315G>C
p.(Ala439Pro)Likely pathogenicVALIDATED
 2004-09-17
Y859C
exon 6
c.2576A>G
p.(Tyr859Cys)Likely pathogenicVALIDATED
 2004-09-02
S331R
exon 3
c.993C>A
p.(Ser331Arg)Likely pathogenicPROVISIONAL
 2004-08-25
L264R
exon 3
c.791T>G
p.(Leu264Arg)Likely pathogenicVALIDATED
 2004-08-17
I172T
exon 3
c.515T>C
p.(Ile172Thr)Likely pathogenicPROVISIONAL
 2004-03-18
R260L
exon 3
c.779G>T
p.(Arg260Leu)PathogenicVALIDATED
 2003-12-29
R260P
exon 3
c.779G>C
p.(Arg260Pro)PathogenicVALIDATED
 2003-12-29
E354D
exon 3
c.1062G>T
p.(Glu354Asp)Likely pathogenicVALIDATED
 2003-12-29
T405P
exon 3
c.1213A>C
p.(Thr405Pro)Likely pathogenicVALIDATED
 2003-12-29
L632F
exon 3
c.1896G>T
p.(Leu632Phe)PathogenicVALIDATED
 2003-12-29
D303G
exon 3
c.908A>G
p.(Asp303Gly)PathogenicVALIDATED
 2003-12-29
T436I
exon 3
c.1307C>T
p.(Thr436Ile)PathogenicVALIDATED
 2003-12-29
L411L C>T
exon 3
c.1231C>T
p.(=)BenignVALIDATED
2003-05-27
D310D
exon 3
c.930C>T
p.(=)Likely benignVALIDATED
 2003-04-19
C461C
exon 3
c.1383C>T
p.(=)Likely benignVALIDATED
 2003-04-19
H463H
exon 3
c.1389C>T
p.(=)BenignVALIDATED
 2003-04-19
L534L
exon 3
c.1600C>T
p.(=)Likely benignVALIDATED
 2003-04-19
G301D
exon 3
c.902G>A
p.(Gly301Asp)UnsolvedUNSOLVED
 2003-02-28
R488K
exon 3
c.1463G>A
p.(Arg488Lys)Uncertain significance (VOUS)VALIDATED
 2003-01-13
Q703K
exon 3
c.2107C>A
p.(Gln703Lys)Uncertain significance (VOUS)VALIDATED
 2002-12-12
L353P
exon 3
c.1058T>C
p.(Leu353Pro)Likely pathogenicVALIDATED
 2002-09-17
L264H
exon 3
c.791T>A
p.(Leu264His)PathogenicVALIDATED
 2002-09-16
A374D
exon 3
c.1121C>A
p.(Ala374Asp)Likely pathogenicVALIDATED
 2002-09-16
Y570C
exon 3
c.1709A>G
p.(Tyr570Cys)Likely pathogenicVALIDATED
 2002-09-16
F523LC>A
exon 3
c.1569C>A
p.(Phe523Leu)Likely pathogenicVALIDATED
 2002-09-16
F523LC>G
exon 3
c.1569C>G
p.(Phe523Leu)Likely pathogenicVALIDATED
 2002-09-16
F573S
exon 3
c.1718T>C
p.(Phe573Ser)Likely pathogenicVALIDATED
 2002-07-28
Q306K
exon 3
c.916C>A
p.(Gln306Lys)Likely pathogenicPROVISIONAL
 2002-07-28
T436N
exon 3
c.1307C>A
p.(Thr436Asn)Likely pathogenicVALIDATED
 2002-07-28
H358R
exon 3
c.1073A>G
p.(His358Arg)Likely pathogenicVALIDATED
 2002-07-28
M662T
exon 3
c.1985T>C
p.(Met662Thr)Likely pathogenicVALIDATED
 2002-07-28
F309S
exon 3
c.926T>C
p.(Phe309Ser)Likely pathogenicVALIDATED
 2002-07-28
T219T
exon 3
c.657C>T
p.(=)BenignVALIDATED
 2002-07-28
A242A
exon 3
c.726G>A
p.(=)BenignVALIDATED
 2002-07-28
R260R
exon 3
c.780G>A
p.(=)Likely benignVALIDATED
 2002-07-28
S434S
exon 3
c.1302C>T
p.(=)BenignVALIDATED
 2002-07-28
L305P
exon 3
c.914T>C
p.(Leu305Pro)PathogenicVALIDATED
 2002-07-12
V198M
exon 3
c.592G>A
p.(Val198Met)Uncertain significance (VOUS)VALIDATED
 2002-07-12
R260W
exon 3
c.778C>T
p.(Arg260Trp)PathogenicVALIDATED
 2002-06-21
T348M
exon 3
c.1043C>T
p.(Thr348Met)PathogenicVALIDATED
 2002-06-21
D303N
exon 3
c.907G>A
p.(Asp303Asn)PathogenicVALIDATED
 2002-06-21
G569R
exon 3
c.1705G>C
p.(Gly569Arg)PathogenicVALIDATED
 2002-06-21
A439T
exon 3
c.1315G>A
p.(Ala439Thr)Likely pathogenicVALIDATED
 2002-06-21
A439V
exon 3
c.1316C>T
p.(Ala439Val)PathogenicVALIDATED
 2002-04-30
E627G
exon 3
c.1880A>G
p.(Glu627Gly)PathogenicVALIDATED
 2002-04-30
A352V
exon 3
c.1055C>T
p.(Ala352Val)PathogenicVALIDATED
 2002-04-30