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

Editor(s): Hal HOFFMAN   

Home Page Tabular list Sequences Download Useful links Statistics Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for NLRP3 : 227

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

**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
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 1
c.203T>C
p.(Met68Thr)
M68T
Likely benignTo be validated
 2019-07-16
exon 7
c.2732A>G
p.(Asn911Ser)
N911S
Likely benignTo be validated
 2019-07-16
exon 3
c.1361G>A
p.(Gly454Glu)
G454E
Not classifiedTo be validated
 2019-07-03
exon 6
c.2611G>A
p.(Ala871Thr)
A871T
Not classifiedTo be validated
 2019-07-03
exon 5
c.2387A>C
p.(Gln796Pro)
Q796P
Not classifiedTo be validated
 2019-07-03
exon 3
c.1912G>A
p.(Glu638Lys)
E638K
Not classifiedTo be validated
 2019-07-03
exon 3
c.1697T>A
p.(Phe566Tyr)
F566Y
Likely pathogenicTo be validated
 2019-06-09
exon 3
c.1051G>T
p.(Val351Leu)
V351LGT
Likely pathogenicTo be validated
 2019-06-09
exon 5
c.2329C>T
p.(Arg777Cys)
R777C
Uncertain significance (VOUS)To be validated
 2019-06-09
exon 2
c.293G>A
p.(Arg98His)
R98H
Uncertain significance (VOUS)To be validated
 2019-06-09
exon 1
c.208G>A
p.(Val70Met)
V70M
Uncertain significance (VOUS)To be validated
 2019-06-09
exon 3
c.611A>G
p.(Glu204Gly)
E204G
Not classifiedTo be validated
 2019-05-21
exon 5
c.2359G>A
p.(Asp787Asn)
D787N
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 1
c.262G>T
p.(Asp88Tyr)
D88Y
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 8
c.2958G>A
p.(Met986Ile)
M986I
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 5
c.2336G>T
p.(Gly779Val)
G779V
Not classifiedTo be validated
 2019-04-19
exon 3
c.1556T>C
p.(Ile519Thr)
I519T
Not classifiedTo be validated
 2018-10-15
exon 3
c.760C>A
p.(Leu254Met)
p.L254M
Not classifiedTo be validated
 2018-02-27
exon 1
c.55G>C
p.(Asp19His)
D19H
Likely pathogenicTo be validated
 2018-02-01
exon 3
c.1814A>T
p.(Glu605Val)
E605V
Not classifiedTo be validated
 2017-12-20
exon 3
c.1807A>G
p.(Arg603Gly)
R605G
Likely pathogenicTo be validated
 2017-09-28
exon 3
c.1690G>A
p.(Gly564Ser)
G564S
Not classifiedTo be validated
 2017-09-24
exon 3
c.1688A>G
p.(Tyr563Cys)
Y563C
Not classifiedTo be validated
 2017-09-24
exon 7
c.2753G>A
p.(Arg918Gln)
R918Q
Not classifiedTo be validated
 2017-09-06
intron 4
c.2322-194T>C
-
c.2322-194T>C
Likely benignVALIDATED
 2017-09-05
intron 4
c.2322-197T>G
-
c.2322-197T>G
Likely benignVALIDATED
 2017-09-05
intron 4
c.2322-224G>A
-
c.2322-224G>A
Likely benignVALIDATED
 2017-09-05
intron 4
c.2322-225T>C
-
c.2322-225T>C
Likely benignVALIDATED
 2017-09-05
intron 6
c.2492+82delG
-
c.2492+82delG
Likely benignVALIDATED
 2017-09-05
intron 6
c.2493-133G>C
-
c.2493-133G>C
Likely benignVALIDATED
 2017-09-05
intron 6
c.2493-40G>A
-
c.2493-40G>A
Likely benignVALIDATED
 2017-09-05
intron 6
c.2663+71T>C
-
c.2663+71T>C
Likely benignVALIDATED
 2017-09-05
intron 2
c.397+7G>A
-
c.397+7G>A
Likely benignVALIDATED
 2017-09-05
exon 3
c.2133T>C
p.(His711His)
H711H
Likely benignVALIDATED
 2017-09-05
exon 7
c.2686T>C
p.(Ser896Pro)
S896P
Uncertain significance (VOUS)VALIDATED
 2017-09-05
5UT
c.-40G>T
-
c.-40G>T
Likely benignVALIDATED
 2017-09-05
exon 3
c.920G>A
p.(Gly307Asp)
G307D
Not classifiedTo be validated
 2017-08-25
exon 3
c.995G>A
p.(Ser332Asn )
S332N
Uncertain significance (VOUS)VALIDATED
 2017-08-18
exon 1
c.224C>T
p.(Ala75Val)
A75V
Uncertain significance (VOUS)VALIDATED
 2017-08-18
exon 3
c.1568T>A
p.(Phe523Tyr)
F523Y
Likely pathogenicVALIDATED
 2017-08-18
exon 3
c.2034C>T
p.(=)
S678S
Likely benignVALIDATED
 2017-08-18
exon 3
c.681G>T
p.(=)
G227G
Likely benignVALIDATED
 2017-08-18
exon 3
c.791T>C
p.(Leu264Pro)
L264P
Likely pathogenicVALIDATED
 2017-08-16
exon 3
c.1708T>A
p.(Tyr570Asn)
Y570N
Likely pathogenicVALIDATED
 2017-08-16
exon 1
c.86A>T
p.(Asp29Val)
D31V
Not classifiedTo be validated
 2017-02-27
exon 3
c.1708T>C
p.(Tyr570His)
Y570H
Not classifiedTo be validated
 2017-01-18
exon 1
c.526C>T
p.(Arg176Trp)
R176W
Not classifiedTo be validated
 2016-12-21
exon 3
c.1945C>T
p.(Pro649Ser)
P649S
Not classifiedTo be validated
 2016-09-27
exon 3
c.1906C>G
p.(Gln636Glu)
Q636E
Not classifiedTo be validated
 2016-06-10
exon 3
c.779G>A
p.(Arg260Gln)
R260Q
Not classifiedTo be validated
 2016-02-02
exon 3
c.598C>A
p.(Pro200Thr)
P200T
Not classifiedTo be validated
 2015-03-31
exon 3
c.1625C>T
p.(Thr542Met)
T544M
Uncertain significance (VOUS)VALIDATED
 2014-12-03
exon 3
c.578C>T
p.(Thr193Met)
T195M
Uncertain significance (VOUS)PROVISIONAL
 2014-11-03
exon 3
c.838G>A
p.(Asp280Asn)
D280N
Uncertain significance (VOUS)VALIDATED
 2014-04-01
exon 3
c.1936G>T
p.(Asp646Tyr)
D646Y
Uncertain significance (VOUS)VALIDATED
 2014-02-24
exon 3
c.638A>G
p.(His213Arg)
H213R
Uncertain significance (VOUS)PROVISIONAL
 2014-02-21
exon 3
c.1736T>A
p.(Phe579Tyr)
F579Y
Not classifiedTo be validated
 2014-02-20
exon 3
c.908A>C
p.(Asp303Ala)
D303A
Likely pathogenicVALIDATED
 2013-12-13
exon 3
c.1064A>C
p.(Lys355Thr)
K355T
Likely pathogenicVALIDATED
 2013-12-13
exon 3
c.1233G>T
p.(=)
L411L G>T
BenignVALIDATED
2013-12-13
exon 3
c.508C>A
p.(Arg170Ser)
R170S
Likely pathogenicVALIDATED
 2013-12-13
exon 3
c.1700A>C
p.(Glu567Ala)
E567A
Likely pathogenicVALIDATED
 2013-12-13
exon 3
c.631G>A
p.(Asp211Asn)
D211N
Uncertain significance (VOUS)VALIDATED
 2013-08-30
exon 3
c.2134G>T
p.(Ala712Ser)
A712S
Uncertain significance (VOUS)PROVISIONAL
 2013-08-16
exon 3
c.1562T>C
p.(Met521Thr)
M521T
Uncertain significance (VOUS)VALIDATED
 2013-07-02
exon 1
c.146A>G
p.(His49Arg)
H49R
Uncertain significance (VOUS)VALIDATED
 2013-07-01
exon 8
c.2855C>T
p.(Thr952Met)
T952M
Uncertain significance (VOUS)VALIDATED
 2013-07-01
exon 3
c.1303A>G
p.(Lys435Glu)
K435E
Uncertain significance (VOUS)PROVISIONAL
 2013-07-01
exon 3
c.926T>A
p.(Phe309Tyr)
F309Y
Likely pathogenicVALIDATED
 2013-05-30
exon 3
c.864C>G
p.(Ile288Met)
I288M
Uncertain significance (VOUS)VALIDATED
 2013-05-21
exon 1
c.207C>T
p.(=)
A69A
BenignVALIDATED
 2013-05-06
exon 3
c.450A>G
p.(=)
E150E
Likely benignVALIDATED
 2013-05-06
exon 3
c.901G>A
p.(Gly301Ser)
G301S
UnsolvedUNSOLVED
 2013-05-06
exon 3
c.1044G>A
p.(=)
T348T
BenignVALIDATED
 2013-05-06
exon 3
c.1231C>G
p.(Leu411Val)
L411V
Likely pathogenicPROVISIONAL
 2013-05-06
exon 3
c.1245C>T
p.(=)
I415I
Likely benignVALIDATED
 2013-05-06
exon 3
c.1323C>T
p.(=)
Y441Y
Likely benignVALIDATED
 2013-05-06
exon 3
c.1642C>T
p.(Arg548Cys)
R548C
UnsolvedUNSOLVED
 2013-05-06
exon 3
c.2030T>C
p.(Leu677Pro)
L677P
Uncertain significance (VOUS)VALIDATED
 2013-05-06
exon 6
c.2575T>C
p.(Tyr859His)
Y859H
Likely pathogenicVALIDATED
 2013-05-06
exon 6
c.2580G>T
p.(=)
V860V
Likely benignVALIDATED
 2013-05-06
exon 6
c.2596G>A
p.(Gly866Arg)
G866R
Uncertain significance (VOUS)VALIDATED
 2013-05-06
exon 3
c.1792A>T
p.(Ile598Phe)
I598F
Likely pathogenicVALIDATED
 2013-03-29
exon 3
c.1049C>T
p.(Pro350Leu)
P350L
UnsolvedUNSOLVED
 2013-02-05
exon 3
c.517A>G
p.(Lys173Glu)
K173E
Uncertain significance (VOUS)VALIDATED
 2013-02-05
exon 3
c.1105C>A
p.(Leu369Met)
L369M
Uncertain significance (VOUS)VALIDATED
 2012-09-03
exon 3
c.693A>T
p.(=)
T231T
Likely benignVALIDATED
 2012-08-22
exon 4
c.2263G>A
p.(Gly755Arg)
G755RG>A
PathogenicVALIDATED
 2012-05-07
exon 5
c.2419G>A
p.(Gly807Ser)
G809S
Uncertain significance (VOUS)VALIDATED
 2012-01-12
exon 3
c.1132G>A
p.(Glu378Lys)
E378K
Uncertain significance (VOUS)VALIDATED
 2012-01-12
intron 2
c.398-15C>T
-
c.398-15C>T
Likely benignPROVISIONAL
 2012-01-03
exon 3
c.1065A>T
p.(Lys355Asn)
K355N
Likely pathogenicPROVISIONAL
 2011-10-10
exon 3
c.1216A>G
p.(Met406Val)
M406V
Likely pathogenicVALIDATED
 2011-10-10
exon 3
c.1298C>T
p.(Thr433Ile)
T433I
Likely pathogenicPROVISIONAL
 2011-10-10
exon 3
c.1698C>A
p.(Phe566Leu)
F566L
Likely pathogenicVALIDATED
 2011-10-10
exon 3
c.1704G>C
p.(Lys568Asn)
K568N
Likely pathogenicVALIDATED
 2011-10-10
exon 3
c.919G>A
p.(Gly307Ser)
G307S
Likely pathogenicVALIDATED
 2011-09-01
exon 3
c.1123A>G
p.(Lys375Glu)
K375E
Uncertain significance (VOUS)VALIDATED
 2011-08-03
exon 4
c.2176A>G
p.(Ser726Gly)
S726G
Uncertain significance (VOUS)VALIDATED
 2011-07-14
exon 3
c.578C>A
p.(Thr193Lys)
T193K
Uncertain significance (VOUS)VALIDATED
 2011-01-04
exon 3
c.404G>A
p.(Arg135His)
R135H
UnsolvedUNSOLVED
 2010-12-13
exon 3
c.1574A>T
p.(Glu525Val)
E525V
Likely pathogenicVALIDATED
 2010-11-30
exon 3
c.1783A>G
p.(Ser595Gly)
S595G
Likely pathogenicVALIDATED
 2010-11-30
intron 2
c.398-229T>G
-
c.398-229T>G
Likely benignVALIDATED
 2010-09-29
exon 3
c.1881A>T
p.(Glu627Asp)
E627D
Likely pathogenicVALIDATED
 2010-09-09
exon 3
c.1401C>T
p.(=)
L467L
Likely benignVALIDATED
 2010-08-26
exon 3
c.796A>C
p.(Thr266Pro)
T266P
Likely pathogenicPROVISIONAL
 2010-07-29
exon 3
c.974G>A
p.(Arg325Gln)
R325Q
Uncertain significance (VOUS)VALIDATED
 2010-05-06
exon 3
c.1713G>C
p.(Leu571Phe)
L571FG>C
Likely pathogenicVALIDATED
 2010-05-06
exon 3
c.1000A>G
p.(Ile334Val)
I334V
Likely pathogenicPROVISIONAL
 2009-09-21
exon 3
c.1054G>A
p.(Ala352Thr)
A352T
Likely pathogenicVALIDATED
 2009-06-19
exon 3
c.916C>G
p.(Gln306Glu)
Q306E
Likely pathogenicPROVISIONAL
 2009-03-30
exon 3
c.937A>G
p.(Ile313Val)
I313V
Uncertain significance (VOUS)PROVISIONAL
 2009-03-09
exon 3
c.973C>T
p.(Arg325Trp)
R325W
Likely pathogenicVALIDATED
 2009-01-07
exon 3
c.1321T>C
p.(Tyr441His)
Y441H
Uncertain significance (VOUS)VALIDATED
 2008-12-02
exon 3
c.699G>A
p.(=)
L233L
Likely benignVALIDATED
 2008-10-23
exon 3
c.2102T>C
p.(Met701Thr)
M701T
Uncertain significance (VOUS)PROVISIONAL
 2008-08-18
exon 3
c.1241G>T
p.(Trp414Leu)
W414L
Likely pathogenicPROVISIONAL
 2008-08-05
exon 3
c.2068G>A
p.(Glu690Lys)
E690K
UnsolvedUNSOLVED
 2008-04-28
exon 3
c.674C>T
p.(Ala225Val)
A225V
Uncertain significance (VOUS)VALIDATED
 2008-04-23
exon 3
c.895A>G
p.(Met299Val)
M299V
Uncertain significance (VOUS)VALIDATED
 2008-04-23
exon 3
c.1306_1308del
p.(Thr438del)
T436DEL
Likely pathogenicPROVISIONAL
 2008-04-02
exon 3
c.1706G>C
p.(Gly569Ala)
G569A
Likely pathogenicVALIDATED
 2008-03-13
exon 3
c.1713G>T
p.(Leu571Phe)
L571F
Likely pathogenicVALIDATED
 2008-02-25
exon 3
c.1714A>T
p.(Ile572Phe)
I572F
Likely pathogenicVALIDATED
 2008-02-25
exon 3
c.785T>G
p.(Val262Gly)
V262G
Likely pathogenicPROVISIONAL
 2008-02-13
intron 1
c.278-45T>C
-
c.278-45T>C
Likely benignVALIDATED
 2008-01-21
intron 8
c.3005+25C>T
-
c.3005+25C>T
Likely benignVALIDATED
 2008-01-21
exon 3
c.935A>C
p.(His312Pro)
H312P
Likely pathogenicVALIDATED
 2007-12-26
exon 3
c.443G>A
p.(Cys148Tyr)
C148Y
Uncertain significance (VOUS)VALIDATED
 2007-12-24
exon 3
c.1699G>A
p.(Glu567Lys)
E567K
Likely pathogenicVALIDATED
 2007-12-06
intron 4
c.2322-527_2322-486(6_12)
-
VNTR
Not classifiedTo be validated
 2007-08-14
intron 1
c.278-196T>C
-
c.278-196T>C
Likely benignVALIDATED
 2007-08-14
intron 3
c.2150+59G>A
-
c.2150+59G>A
BenignVALIDATED
 2007-08-14
intron 6
c.2663+859A>C
-
c.2663+859A>C
BenignVALIDATED
 2007-08-14
exon 3
c.1218G>C
p.(Met406Ile)
M406I
Likely pathogenicVALIDATED
 2007-07-27
exon 3
c.910G>A
p.(Glu304Lys)
E304K
PathogenicVALIDATED
 2007-07-03
exon 3
c.2062G>A
p.(Glu688Lys)
E688K
Likely pathogenicVALIDATED
 2007-07-03
exon 3
c.1431C>A
p.(Asn477Lys)
N477K
Likely pathogenicVALIDATED
 2007-07-03
exon 3
c.1306A>G
p.(Thr436Ala)
T436A
Likely pathogenicVALIDATED
 2007-06-23
exon 3
c.1438A>T
p.(Ile480Phe)
I480F
Likely pathogenicVALIDATED
 2007-05-23
exon 3
c.790C>G
p.(Leu264Val)
L264V
Likely pathogenicVALIDATED
 2007-05-17
exon 3
c.1374C>T
p.(=)
H458H
Likely benignVALIDATED
 2007-05-17
exon 3
c.777T>G
p.(Cys259Trp)
C259W
Likely pathogenicVALIDATED
 2007-04-09
exon 3
c.785T>C
p.(Val262Ala)
V262A
Likely pathogenicVALIDATED
 2007-04-09
exon 3
c.790C>T
p.(Leu264Phe)
L264F
Likely pathogenicVALIDATED
 2007-04-09
exon 3
c.1329C>G
p.(Phe443Leu)
F443L
Likely pathogenicVALIDATED
 2007-04-09
exon 3
c.1568T>G
p.(Phe523Cys)
F523C
PathogenicVALIDATED
 2007-04-09
exon 3
c.1687T>A
p.(Tyr563Asn)
Y563N
Likely pathogenicVALIDATED
 2007-04-09
exon 3
c.907G>C
p.(Asp303His)
D303H
Likely pathogenicVALIDATED
 2007-03-15
exon 3
c.1484C>T
p.(Ala495Val)
A495V
Uncertain significance (VOUS)VALIDATED
 2007-03-15
exon 4
c.2264G>C
p.(Gly755Ala)
G755A
Likely pathogenicVALIDATED
 2007-01-10
exon 3
c.1051G>C
p.(Val351Leu)
V351L
Likely pathogenicPROVISIONAL
 2006-10-22
exon 3
c.1032G>A
p.(=)
L344L
BenignVALIDATED
 2006-09-01
exon 3
c.920G>T
p.(Gly307Val)
G307V
Likely pathogenicVALIDATED
 2006-08-08
exon 4
c.2263G>C
p.(Gly755Arg)
G755RG>C
PathogenicVALIDATED
 2006-08-08
exon 3
c.931G>A
p.(Glu311Lys)
E311K
Likely pathogenicVALIDATED
 2006-08-08
exon 3
c.1760C>T
p.(Thr587Ile)
T587I
Likely pathogenicPROVISIONAL
 2006-08-02
exon 3
c.1709A>T
p.(Tyr570Phe)
Y570F
Likely pathogenicVALIDATED
 2006-04-04
exon 3
c.1306A>C
p.(Thr436Pro)
T436P
Likely pathogenicVALIDATED
 2006-02-28
exon 3
c.503G>A
p.(Arg168Gln)
R168Q
Likely pathogenicPROVISIONAL
 2006-01-25
exon 3
c.1051G>A
p.(Val351Met)
V351M
Likely pathogenicPROVISIONAL
 2006-01-24
exon 3
c.944C>T
p.(Pro315Leu)
P315L
Uncertain significance (VOUS)VALIDATED
 2006-01-23
exon 3
c.1669A>G
p.(Thr557Ala)
T557A
Uncertain significance (VOUS)VALIDATED
 2006-01-11
intron 4
c.2321+85A>G
-
c.2321+85A>G
BenignVALIDATED
 2005-12-29
exon 3
c.1660C>T
p.(Arg554*)
R554X
Likely pathogenicVALIDATED
 2005-12-27
exon 3
c.587G>A
p.(Ser196Asn)
S196N
Likely benignVALIDATED
 2005-12-24
intron 8
c.3006-45_3006-44del
-
c.3006-45_-44delAG
Likely benignVALIDATED
 2005-12-19
3UT
c.*177delC
-
c.*177delC
Likely benignPROVISIONAL
 2005-12-19
exon 3
c.1976T>A
p.(Met659Lys)
M659K
PathogenicVALIDATED
 2005-08-16
exon 3
c.1573G>A
p.(Glu525Lys)
E525K
Likely pathogenicVALIDATED
 2005-08-16
exon 3
c.977G>A
p.(Gly326Glu)
G326E
Likely pathogenicVALIDATED
 2005-07-03
exon 3
c.423C>T
p.(=)
Y141Y
Likely benignVALIDATED
 2005-05-23
intron 8
c.3005+44C>A
-
c.3005+44C>A
BenignVALIDATED
 2005-04-19
3UT
c.*230C>G
-
c.*230C>G
Not classifiedTo be validated
 2005-04-19
intron 2
c.398-56C>T
-
c.398-56C>T
Likely benignVALIDATED
 2004-12-10
intron 4
c.2322-76C>T
-
c.2322-76C>T
BenignVALIDATED
 2004-12-10
intron 4
c.2322-55_2322-54ins42
-
c.2322-55_2322-54ins42
Not classifiedTo be validated
 2004-12-10
intron 4
c.2322-40G>A
-
c.2322-40 G>A
BenignVALIDATED
 2004-12-07
exon 3
c.2129C>G
p.(Ser710Cys)
S710C
Uncertain significance (VOUS)PROVISIONAL
 2004-11-15
exon 3
c.1020C>T
p.(=)
P340P
BenignVALIDATED
 2004-09-21
exon 3
c.1315G>C
p.(Ala439Pro)
A439P
Likely pathogenicVALIDATED
 2004-09-17
exon 6
c.2576A>G
p.(Tyr859Cys)
Y859C
Likely pathogenicVALIDATED
 2004-09-02
exon 3
c.993C>A
p.(Ser331Arg)
S331R
Likely pathogenicPROVISIONAL
 2004-08-25
exon 3
c.791T>G
p.(Leu264Arg)
L264R
Likely pathogenicVALIDATED
 2004-08-17
exon 3
c.515T>C
p.(Ile172Thr)
I172T
Likely pathogenicPROVISIONAL
 2004-03-18
exon 3
c.779G>T
p.(Arg260Leu)
R260L
PathogenicVALIDATED
 2003-12-29
exon 3
c.779G>C
p.(Arg260Pro)
R260P
PathogenicVALIDATED
 2003-12-29
exon 3
c.1062G>T
p.(Glu354Asp)
E354D
Likely pathogenicVALIDATED
 2003-12-29
exon 3
c.1213A>C
p.(Thr405Pro)
T405P
Likely pathogenicVALIDATED
 2003-12-29
exon 3
c.1896G>T
p.(Leu632Phe)
L632F
PathogenicVALIDATED
 2003-12-29
exon 3
c.908A>G
p.(Asp303Gly)
D303G
PathogenicVALIDATED
 2003-12-29
exon 3
c.1307C>T
p.(Thr436Ile)
T436I
PathogenicVALIDATED
 2003-12-29
exon 3
c.1231C>T
p.(=)
L411L C>T
BenignVALIDATED
2003-05-27
exon 3
c.930C>T
p.(=)
D310D
Likely benignVALIDATED
 2003-04-19
exon 3
c.1383C>T
p.(=)
C461C
Likely benignVALIDATED
 2003-04-19
exon 3
c.1389C>T
p.(=)
H463H
BenignVALIDATED
 2003-04-19
exon 3
c.1600C>T
p.(=)
L534L
Likely benignVALIDATED
 2003-04-19
exon 3
c.902G>A
p.(Gly301Asp)
G301D
UnsolvedUNSOLVED
 2003-02-28
exon 3
c.1463G>A
p.(Arg488Lys)
R488K
Uncertain significance (VOUS)VALIDATED
 2003-01-13
exon 3
c.2107C>A
p.(Gln703Lys)
Q703K
Uncertain significance (VOUS)VALIDATED
 2002-12-12
exon 3
c.1058T>C
p.(Leu353Pro)
L353P
Likely pathogenicVALIDATED
 2002-09-17
exon 3
c.791T>A
p.(Leu264His)
L264H
PathogenicVALIDATED
 2002-09-16
exon 3
c.1121C>A
p.(Ala374Asp)
A374D
Likely pathogenicVALIDATED
 2002-09-16
exon 3
c.1709A>G
p.(Tyr570Cys)
Y570C
Likely pathogenicVALIDATED
 2002-09-16
exon 3
c.1569C>A
p.(Phe523Leu)
F523LC>A
Likely pathogenicVALIDATED
 2002-09-16
exon 3
c.1569C>G
p.(Phe523Leu)
F523LC>G
Likely pathogenicVALIDATED
 2002-09-16
exon 3
c.1718T>C
p.(Phe573Ser)
F573S
Likely pathogenicVALIDATED
 2002-07-28
exon 3
c.916C>A
p.(Gln306Lys)
Q306K
Likely pathogenicPROVISIONAL
 2002-07-28
exon 3
c.1307C>A
p.(Thr436Asn)
T436N
Likely pathogenicVALIDATED
 2002-07-28
exon 3
c.1073A>G
p.(His358Arg)
H358R
Likely pathogenicVALIDATED
 2002-07-28
exon 3
c.1985T>C
p.(Met662Thr)
M662T
Likely pathogenicVALIDATED
 2002-07-28
exon 3
c.926T>C
p.(Phe309Ser)
F309S
Likely pathogenicVALIDATED
 2002-07-28
exon 3
c.657C>T
p.(=)
T219T
BenignVALIDATED
 2002-07-28
exon 3
c.726G>A
p.(=)
A242A
BenignVALIDATED
 2002-07-28
exon 3
c.780G>A
p.(=)
R260R
Likely benignVALIDATED
 2002-07-28
exon 3
c.1302C>T
p.(=)
S434S
BenignVALIDATED
 2002-07-28
exon 3
c.914T>C
p.(Leu305Pro)
L305P
PathogenicVALIDATED
 2002-07-12
exon 3
c.592G>A
p.(Val198Met)
V198M
Uncertain significance (VOUS)VALIDATED
 2002-07-12
exon 3
c.778C>T
p.(Arg260Trp)
R260W
PathogenicVALIDATED
 2002-06-21
exon 3
c.1043C>T
p.(Thr348Met)
T348M
PathogenicVALIDATED
 2002-06-21
exon 3
c.907G>A
p.(Asp303Asn)
D303N
PathogenicVALIDATED
 2002-06-21
exon 3
c.1705G>C
p.(Gly569Arg)
G569R
PathogenicVALIDATED
 2002-06-21
exon 3
c.1315G>A
p.(Ala439Thr)
A439T
Likely pathogenicVALIDATED
 2002-06-21
exon 3
c.1316C>T
p.(Ala439Val)
A439V
PathogenicVALIDATED
 2002-04-30
exon 3
c.1880A>G
p.(Glu627Gly)
E627G
PathogenicVALIDATED
 2002-04-30
exon 3
c.1055C>T
p.(Ala352Val)
A352V
PathogenicVALIDATED
 2002-04-30