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

Editor(s): Rima SLIM   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

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Total current number of sequence variants for NLRP7 : 285

*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

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
5 flanking
c.-13413_2982-344del
p.0
c.-13413_2982-344del
PathogenicVALIDATED
 2015-11-152020-07-21
5 flanking
c.-7026_-40+2300del
p.?
c.-7026_-40+2300del
Likely pathogenicVALIDATED
 2017-11-162020-08-27
5 flanking
c.-6831_-39-1586del
p.0
c.-6831_-39-1586del
PathogenicVALIDATED
 2020-08-312021-02-16
5 flanking
c.-3998_2130-668del
p.?
c.-3998_2130-668del
PathogenicVALIDATED
 2015-11-152021-05-26
5 flanking
c.-122G>A
p.?
c.-122G>A
Not classifiedTo be validated
 2012-02-29 
intron 1
c.-40+3G>C
p.0
c.-40+3G>C
Uncertain significance (VUS)VALIDATED
 2020-08-312021-02-16
intron 1
c.-40+21C>T
p.?
c.-40+21C>T
Not classifiedTo be validated
 2008-03-072012-03-29
intron 1
c.-40+34T>G
p.?
c.-40+34T>G
Not classifiedTo be validated
 2012-10-172012-10-18
intron 1
c.-40+36C>T
p.?
c.-40+36C>T
Not classifiedTo be validated
 2008-03-072012-03-29
intron 1
c.-40+121G>A
p.?
c.-40+121G>A
Not classifiedTo be validated
 2012-02-292012-03-29
intron 1
c.-40+251_2130-681del
p.?
c.-40+251_2130-681del
PathogenicVALIDATED
 2015-11-152020-08-27
intron 1
c.-39-1769_2129+228del
p.?
c.-39-1769_2129+228del
PathogenicVALIDATED
 2015-11-272020-08-27
intron 1
c.-39-792C>T
p.?
c.-39-792C>T
Not classifiedTo be validated
 2008-07-112012-03-29
intron 1
c.-39-427T>C
p.?
c.-39-427T>C
Not classifiedTo be validated
 2008-03-012012-03-29
intron 1
c.-39-393G>A
p.?
c.-39-393G>A
Not classifiedTo be validated
 2008-03-012012-03-29
intron 1
c.-39-387_2129+265dup
p.(Glu710Aspfs*7)
E710Dfs7X
PathogenicVALIDATED
 2007-12-262020-04-12
intron 1
c.-39-300C>T
p.?
c.-39-300C>T
Not classifiedTo be validated
 2008-03-072012-03-29
intron 1
c.-39-231_2130-510del
p.0
c.-39-231_2130-510del
PathogenicVALIDATED
 2014-09-222020-07-24
intron 1
c.-39-90G>C
p.?
c.-39-90G>C
Not classifiedTo be validated
 2008-07-112012-03-29
intron 1
c.-39-16C>T
p.?
c.-39-16C>T
Not classifiedTo be validated
 2008-01-032012-03-29
exon 2
c.183delC
p.(Ser62Profs*6)
T61TfsX7
PathogenicVALIDATED
 2009-03-232021-05-26
exon 2
c.197G>A
p.(Trp66*)
W66*
PathogenicVALIDATED
 2016-05-052020-04-12
exon 2
c.198G>C
p.(Trp66Cys)
W66C
Not classifiedTo be validated
 2015-10-272024-10-22
exon 2
c.219C>T
p.(Asn73=)
N73N
Likely benignVALIDATED
 2009-06-172010-07-20
exon 2
c.251G>A
p.(Cys84Tyr)
C84Y
Uncertain significance (VUS)VALIDATED
 2007-08-152009-08-29
intron 2
c.277+1G>C
p.?
c.277+1G>C
PathogenicVALIDATED
 2011-09-022020-07-06
intron 2
c.278-134C>T
p.?
c.278-134C>T
Not classifiedTo be validated
 2014-09-162014-09-17
intron 2
c.278-68A>G
p.?
c.278-68A>G
Not classifiedTo be validated
 2012-06-282012-06-28
exon 3
c.295G>T
p.(Glu99*)
E99X
Likely pathogenicVALIDATED
 2007-05-282020-04-12
exon 3
c.337dupG
p.(Glu113Glyfs*7)
E113GfsX7
PathogenicVALIDATED
 2009-03-232020-04-12
exon 3
c.346A>T
p.(Lys116*)
K116X
PathogenicVALIDATED
 2009-04-032020-08-27
intron 3
c.352+1G>A
p.(Gly118Aspfs*3)
IVS3+1G>A
PathogenicVALIDATED
 2006-08-102021-05-26
intron 3
c.352+231G>A
p.?
c.352+231G>A
Not classifiedTo be validated
 2008-07-112019-06-18
intron 3
c.353-235C>T
p.?
c.353-235C>T
Not classifiedTo be validated
 2008-07-112008-08-06
intron 3
c.353-231C>A
p.?
c.353-231C>A
Not classifiedTo be validated
 2011-03-042011-03-04
intron 3
c.353-227A>G
p.?
c.353-227A>G
Not classifiedTo be validated
 2011-03-042011-03-04
intron 3
c.353-216C>G
p.?
c.353-216C>G
Not classifiedTo be validated
 2008-03-01 
intron 3
c.353-178A>G
p.?
c.353-178A>G
Not classifiedTo be validated
 2008-03-01 
intron 3
c.353-111C>T
p.?
c.353-111C>T
Not classifiedTo be validated
 2008-03-05 
intron 3
c.353-71C>T
p.?
c.353-71C>T
Not classifiedTo be validated
 2008-05-16 
intron 3
c.353-56A>G
p.?
c.353-56A>G
Not classifiedTo be validated
 2008-01-03 
intron 3
c.353-52T>G
p.?
c.353-52T>G
Not classifiedTo be validated
 2011-03-042011-03-04
exon 4
c.390G>A
p.(Gln130=)
Q130Q
BenignVALIDATED
 2006-08-112008-03-07
exon 4
c.394_395del
p.(Leu132Glyfs*12)
L132Gfs*12
PathogenicVALIDATED
 2017-11-152020-04-12
exon 4
c.418C>T
p.(Gln140*)
Q140*
PathogenicVALIDATED
 2017-11-162020-04-12
exon 4
c.446A>G
p.(Asp149Gly)
D149G
Uncertain significance (VUS)VALIDATED
 2012-10-302020-06-12
exon 4
c.467G>A
p.(Arg156Gln)
R156Q
Likely benignVALIDATED
 2008-07-112021-05-26
exon 4
c.544G>A
p.(Val182Met)
V182M
Uncertain significance (VUS)VALIDATED
 2011-10-302021-05-26
exon 4
c.555_557del
p.(Thr185del)
T185del
Likely pathogenicVALIDATED
 2020-03-302020-11-24
exon 4
c.574A>C
p.(Met192Leu)
M192L
Uncertain significance (VUS)PROVISIONAL
 2008-07-112009-02-07
exon 4
c.584G>A
p.(Trp195*)
W195X
PathogenicVALIDATED
 2015-11-272020-08-27
exon 4
c.603C>T
p.(Ser201=)
S201S
Likely benignVALIDATED
 2007-10-312008-09-11
exon 4
c.628C>T
p.(Leu210Phe)
L210F
Uncertain significance (VUS)VALIDATED
 2011-03-042011-03-04
exon 4
c.660dupC
p.(Cys221Leufs*13)
C221Lfs*13
Likely pathogenicTo be validated
 2024-07-302024-08-12
exon 4
c.693G>A
p.(Trp231*)
W231X
PathogenicVALIDATED
 2012-07-142020-04-12
exon 4
c.701T>C
p.(Leu234Ser)
L234S
Uncertain significance (VUS)VALIDATED
 2010-02-032021-05-26
exon 4
c.728C>T
p.(Ala243Val)
A243V
Not classifiedTo be validated
 2015-10-272024-10-22
exon 4
c.749T>G
p.(Phe250Cys)
F250C
Uncertain significance (VUS)VALIDATED
 2010-07-22 
exon 4
c.750C>A
p.(Phe250Leu)
F250L
Uncertain significance (VUS)VALIDATED
 2010-04-062021-05-26
exon 4
c.829A>C
p.(Lys277Gln)
K277Q
Uncertain significance (VUS)VALIDATED
 2008-07-112010-08-27
exon 4
c.835G>T
p.(Val279Leu)
V279L
Uncertain significance (VUS)VALIDATED
 2012-10-302020-08-27
exon 4
c.915A>C
p.(Ala305=)
A305A
Likely benignVALIDATED
 2009-06-172009-08-29
exon 4
c.929A>G
p.(Gln310Arg)
Q310R
Likely benignVALIDATED
 2010-07-222010-08-20
exon 4
c.930G>T
p.(Leu311His)
L311H
Uncertain significance (VUS)VALIDATED
 2010-07-222010-08-20
exon 4
c.930_931delGC
p.(Gln310Hisfs*38)
Q310Hfs*38
PathogenicVALIDATED
 2009-07-022020-04-12
exon 4
c.931C>A
p.(Leu311Ile)
L311I
Likely benignVALIDATED
 2010-07-222021-05-26
exon 4
c.939del
p.(Gln314Serfs*6)
Q314fs
Likely pathogenicTo be validated
 2024-06-062024-06-07
exon 4
c.939_952dup14
p.(Tyr318Cysfs*7)
Y318CfsX7
PathogenicVALIDATED
 2009-03-232021-05-26
exon 4
c.955G>A
p.(Val319Ile)
V319I
BenignVALIDATED
 2006-08-252008-03-02
exon 4
c.986G>A
p.(Arg329Lys)
R329K
Uncertain significance (VUS)PROVISIONAL
 2007-11-212020-07-06
exon 4
c.1017C>T
p.(Asp339=)
D339D
Likely benignVALIDATED
 2012-03-07 
exon 4
c.1018G>A
p.(Glu340Lys)
E340K
Uncertain significance (VUS)VALIDATED
 2011-01-122021-05-26
exon 4
c.1018_1020delinsCAAAA
p.(Glu340Glnfs*11)
E340Qfs*11
PathogenicVALIDATED
 2011-03-042020-07-06
exon 4
c.1071C>G
p.(Phe357Leu)
F357L
Not classifiedTo be validated
 2015-10-272024-10-22
exon 4
c.1104T>C
p.(Ile368=)
I368I
Likely benignVALIDATED
 2009-06-172009-06-21
exon 4
c.1104T>G
p.(Ile368Met)
I368M
Uncertain significance (VUS)VALIDATED
 2011-01-132017-08-11
exon 4
c.1137G>A
p.(Lys379=)
K379K
BenignVALIDATED
 2006-08-112009-02-07
exon 4
c.1137G>C
p.(Lys379Asn)
K379N
Likely benignVALIDATED
 2007-08-152009-06-26
exon 4
c.1138G>C
p.(Gly380Arg)
G380R
Uncertain significance (VUS)PROVISIONAL
 2009-04-032020-08-27
exon 4
c.1148C>T
p.(Pro383Leu)
P383L
Uncertain significance (VUS)VALIDATED
 2012-10-302020-08-27
exon 4
c.1168del
p.(Arg390Alafs*26)
R390Afs*26
Likely pathogenicVALIDATED
 2017-11-162020-04-12
exon 4
c.1169G>A
p.(Arg390His)
R390H
Uncertain significance (VUS)VALIDATED
 2009-02-042021-05-26
exon 4
c.1171A>G
p.(Thr391Ala)
T391A
Uncertain significance (VUS)VALIDATED
 2012-10-302020-08-27
exon 4
c.1182C>T
p.(Phe394=)
F394F
Likely benignVALIDATED
 2009-07-282010-11-29
exon 4
c.1193T>G
p.(Leu398Arg)
L398R
Likely pathogenicVALIDATED
 2009-03-232021-05-26
exon 4
c.1196G>A
p.(Cys399Tyr)
C399Y
Uncertain significance (VUS)VALIDATED
 2007-08-152021-05-26
exon 4
c.1235T>C
p.(Leu412Pro)
L412P
Uncertain significance (VUS)VALIDATED
 2012-10-302020-08-27
exon 4
c.1237C>T
p.(Arg413Trp)
R413W
Uncertain significance (VUS)VALIDATED
 2011-01-122021-05-26
exon 4
c.1238G>A
p.(Arg413Gln)
R413Q
Uncertain significance (VUS)VALIDATED
 2012-02-232012-02-23
exon 4
c.1280T>C
p.(Met427Thr)
M427T
Uncertain significance (VUS)VALIDATED
 2009-02-042022-01-24
exon 4
c.1288T>C
p.(Phe430Leu)
F430L
Uncertain significance (VUS)VALIDATED
 2009-03-032010-07-20
exon 4
c.1290C>T
p.(Phe430=)
F430F
Likely benignVALIDATED
 2009-02-042009-02-06
exon 4
c.1294C>T
p.(Arg432*)
R432X
PathogenicVALIDATED
 2008-07-112021-05-26
exon 4
c.1302C>T
p.(Asp434=)
D434D
Likely benignVALIDATED
 2009-02-042010-02-25
exon 4
c.1305G>T
p.(Leu435=)
L435L
Likely benignVALIDATED
 2012-02-29 
exon 4
c.1362C>T
p.(Leu454=)
L454L
Likely benignVALIDATED
 2011-01-262021-05-26
exon 4
c.1374_1375delAG
p.(Arg458Serfs*69)
R458Sfs*69
PathogenicVALIDATED
 2014-04-012020-06-18
exon 4
c.1392C>G
p.(Tyr464*)
Y464*
PathogenicVALIDATED
 2019-04-102020-08-27
exon 4
c.1414C>T
p.(Gln472*)
Q472*
Likely pathogenicTo be validated
 2024-07-302024-08-12
exon 4
c.1441G>A
p.(Ala481Thr)
A481T
BenignVALIDATED
 2007-10-172008-11-06
exon 4
c.1456dupG
p.(Glu486Glyfs*42)
E486GfsX42
PathogenicVALIDATED
 2009-04-032020-08-27
exon 4
c.1460G>A
p.(Gly487Glu)
G487E
BenignVALIDATED
 2007-10-232010-02-25
exon 4
c.1480G>A
p.(Ala494Thr)
A494T
Uncertain significance (VUS)VALIDATED
 2011-10-302021-05-26
exon 4
c.1491C>T
p.(Ile497=)
I497I
BenignVALIDATED
 2007-10-172008-02-28
exon 4
c.1492G>A
p.(Gly498Arg)
G498R
Uncertain significance (VUS)VALIDATED
 2009-02-042021-05-26
exon 4
c.1516G>T
p.(Gly506*)
G506*
Likely pathogenicVALIDATED
 2017-11-162020-04-12
exon 4
c.1517_1518ins22
p.(Glu508Aspfs*27)
E508DfsX27
PathogenicVALIDATED
 2013-06-252021-05-26
exon 4
c.1532A>G
p.(Lys511Arg)
K511R
BenignVALIDATED
 2008-05-162021-05-26
exon 4
c.1533del
p.(Asn512Thrfs*4)
N512fs
Likely pathogenicTo be validated
 2024-06-062024-06-07
exon 4
c.1537C>T
p.(Pro513Ser)
P513S
Uncertain significance (VUS)VALIDATED
 2012-03-072013-03-01
exon 4
c.1538C>T
p.(Pro513Leu)
P513L
Not classifiedTo be validated
 2015-10-272024-10-22
exon 4
c.1557del
p.(His520Thrfs*46)
H520Tfs*46
PathogenicVALIDATED
 2017-11-162020-04-12
exon 4
c.1565_1566ins[[AF15169.2:g.106_419];1548_1565]
p.?
c.1548_1566dup;1566_1567insAF15169.2:g.106_419]
PathogenicVALIDATED
 2017-11-162020-08-27
exon 4
c.1614T>A
p.(Phe538Leu)
F538L
Not classifiedTo be validated
 2021-01-11 
exon 4
c.1625_1700del
p.(Met542Thrfs*2)
M542Tfs
Likely pathogenicVALIDATED
 2010-04-062020-11-22
exon 4
c.1708G>T
p.(Glu570*)
E570X
PathogenicVALIDATED
 2009-01-282021-05-26
exon 4
c.1720dup
p.(Cys574Leufs*4)
c.1719_1720insT
PathogenicVALIDATED
 2020-08-312020-11-24
exon 4
c.1725G>T
p.(Leu575=)
L575L
BenignVALIDATED
 2007-10-232008-02-28
exon 4
c.1738G>T
p.(Glu580*)
E580*
PathogenicVALIDATED
 2020-09-032020-10-27
exon 4
c.1770G>A
p.(Pro590=)
P590P
Likely benignVALIDATED
 2012-06-272021-05-26
exon 4
c.1812_1837dup
p.(His613Argfs*8)
H613Rfs*8
Likely pathogenicVALIDATED
 2019-04-102021-02-16
exon 4
c.1823C>T
p.(Ser608Phe)
S608F
Uncertain significance (VUS)VALIDATED
 2012-10-302022-01-19
exon 4
c.1857_1858del
p.(Lys619Asnfs*18)
K619Nfs*18
PathogenicVALIDATED
 2020-08-312020-11-24
exon 4
c.1861_1862del
p.(Ser621Thrfs*16)
S621Tfs*16
PathogenicVALIDATED
 2020-09-032020-11-22
exon 4
c.1908dup
p.(Glu637*)
E637*
Likely pathogenicVALIDATED
 2015-10-222020-04-12
intron 4
c.1931+18A>T
p.?
c.1931+18A>T
Not classifiedTo be validated
 2008-07-112008-08-06
intron 4
c.1931+43C>T
p.?
c.1931+43C>T
Not classifiedTo be validated
 2008-07-11 
intron 4
c.1931+49C>T
p.?
c.1931+49C>T
Not classifiedTo be validated
 2011-03-042011-03-04
intron 4
c.1931+110T>C
p.?
c.1931+110T>C
Not classifiedTo be validated
 2008-07-112008-09-11
intron 4
c.1931+176G>T
p.?
c.1931+176G>T
Not classifiedTo be validated
 2008-07-112008-09-18
intron 4
c.1931+226C>G
p.?
c.1931+226C>G
Not classifiedTo be validated
 2008-07-112008-09-18
intron 4
c.1932-296A>T
p.?
c.1932-296A>T
Not classifiedTo be validated
 2011-03-042011-03-04
intron 4
c.1932-178delT
p.?
c.1932-178delT
Not classifiedTo be validated
 2008-03-012009-07-02
intron 4
c.1932-146C>T
p.?
c.1932-146C>T
Not classifiedTo be validated
 2008-03-012008-03-02
intron 4
c.1932-103G>C
p.?
c.1932-103G>C
Not classifiedTo be validated
 2008-03-012008-03-02
intron 4
c.1932-71A>G
p.?
c.1932-71A>G
Not classifiedTo be validated
 2012-03-07 
intron 4
c.1932-57T>C
p.?
c.1932-57T>C
Not classifiedTo be validated
 2008-03-012008-03-02
intron 4
c.1932-53C>T
p.?
c.1932-53C>T
Not classifiedTo be validated
 2011-03-042011-03-04
exon 5
c.1951C>T
p.(Pro651Ser)
P651S
PathogenicVALIDATED
 2009-03-232021-05-26
exon 5
c.1959G>A
p.(Trp653*)
W653*
PathogenicVALIDATED
 2021-06-182021-07-08
exon 5
c.1970A>T
p.(Asp657Val)
D657V
PathogenicVALIDATED
 2007-05-282021-05-26
exon 5
c.1976G>T
p.(Arg659Leu)
R659L
Not classifiedTo be validated
 2012-02-152021-05-26
exon 5
c.1981C>T
p.(Leu661Phe)
L661F
Uncertain significance (VUS)VALIDATED
 2013-10-122020-04-12
exon 5
c.2002T>C
p.(Cys668Arg)
C668R
Uncertain significance (VUS)VALIDATED
 2017-11-152020-04-12
exon 5
c.2018C>G
p.(Ser673*)
S673X
PathogenicVALIDATED
 2009-04-032020-08-27
exon 5
c.2024G>C
p.(Ser675Thr)
S675T
Uncertain significance (VUS)VALIDATED
 2009-06-172021-05-26
exon 5
c.2030delT
p.(Leu677Profs*6)
L677PfsX6
PathogenicVALIDATED
 2009-03-242021-05-26
exon 5
c.2077C>G
p.(Arg693Gly)
R693G
Likely pathogenicVALIDATED
 2009-02-102021-05-26
exon 5
c.2077C>T
p.(Arg693Trp)
R693W
PathogenicVALIDATED
 2006-08-102020-04-12
exon 5
c.2078G>C
p.(Arg693Pro)
R693P
PathogenicVALIDATED
 2006-08-102021-05-26
exon 5
c.2078G>A
p.(Arg693Gln)
R693Q
PathogenicVALIDATED
 2008-12-062021-05-26
exon 5
c.2094C>T
p.(His698=)
H698H
Likely benignVALIDATED
 2008-06-23 
exon 5
c.2095G>A
p.(Val699Ile)
V699I
Likely benignVALIDATED
 2009-06-172009-06-21
exon 5
c.2101C>T
p.(Arg701Cys)
R701C
Uncertain significance (VUS)VALIDATED
 2008-07-112021-05-26
exon 5
c.2111G>A
p.(Cys704Tyr)
C704Y
Likely pathogenicVALIDATED
 2020-07-032020-11-24
intron 5
c.2129+6T>C
p.?
c.2129+6T>C
Not classifiedTo be validated
 2008-05-162013-02-04
intron 5
c.2129+38G>C
p.?
c.2129+38G>C
Not classifiedTo be validated
 2008-03-012008-03-02
intron 5
c.2129+214C>T
p.?
c.2129+214C>T
Not classifiedTo be validated
 2008-07-112008-09-18
intron 5
c.2129+313C>G
p.?
c.2129+313C>G
Not classifiedTo be validated
 2008-07-112008-09-18
intron 5
c.2129+399G>A
p.?
c.2129+399G>A
Not classifiedTo be validated
 2008-07-112008-09-18
intron 5
c.2129+432T>C
p.?
c.2129+432T>C
Not classifiedTo be validated
 2008-07-112008-09-18
intron 5
c.2129+451C>T
p.?
c.2129+451C>T
Not classifiedTo be validated
 2008-07-112008-09-18
intron 5
c.2130-718G>A
p.?
c.2130-718G>A
Not classifiedTo be validated
 2008-07-112008-09-18
intron 5
c.2130-312_2300+736del
p.?
c.2130-312_2300+737del1218
PathogenicVALIDATED
 2010-04-062020-10-27
intron 5
c.2130-304C>G
p.?
c.2130-304C>G
Not classifiedTo be validated
 2008-07-112008-09-18
intron 5
c.2130-266_2300+782del
p.(Ile711_Arg767del)
c.2130-266_2300+782del
PathogenicVALIDATED
 2014-09-242020-09-02
intron 5
c.2130-184delT
p.?
c.2130-184delT
Not classifiedTo be validated
 2011-03-042011-03-04
intron 5
c.2130-57A>G
p.?
c.2130-57A>G
Not classifiedTo be validated
 2011-03-042011-03-04
intron 5
c.2130-41T>G
p.?
c.2130-41T>G
Not classifiedTo be validated
 2008-03-012008-03-02
intron 5
c.2130-7_2131del
p.Ile711_Arg767del
c.2130-6_2132del
Likely pathogenicVALIDATED
 2014-09-222021-05-26
intron 5
c.2130-2A>G
p.?
c.2130-2A>G
Likely pathogenicVALIDATED
 2013-06-252020-07-06
exon 6
c.2140G>A
p.(Val714Ile)
V714I
Uncertain significance (VUS)VALIDATED
 2012-10-302020-08-27
exon 6
c.2146C>G
p.(Pro716Ala)
P716A
Likely pathogenicVALIDATED
 2009-03-232021-05-26
exon 6
c.2146C>T
p.(Pro716Ser)
P716S
Likely pathogenicTo be validated
 2024-07-302024-08-12
exon 6
c.2147delC
p.(Pro716Leufs*21)
P716LfsX21
PathogenicVALIDATED
 2009-03-232021-05-26
exon 6
c.2156C>T
p.(Ala719Val)
A719V
Uncertain significance (VUS)VALIDATED
 2008-07-072021-05-26
exon 6
c.2161C>T
p.(Arg721Trp)
R721W
PathogenicVALIDATED
 2008-06-232020-04-12
exon 6
c.2162G>A
p.(Arg721Gln)
R721Q
PathogenicVALIDATED
 2009-12-172020-07-03
exon 6
c.2165A>G
p.(Asp722Gly)
D722G
Uncertain significance (VUS)VALIDATED
 2008-07-112021-05-26
exon 6
c.2204A>C
p.(His735Pro)
H735P
Uncertain significance (VUS)PROVISIONAL
 2019-04-102022-01-24
exon 6
c.2226C>T
p.(Ile742=)
I742I
Likely benignVALIDATED
 2012-10-172021-05-26
exon 6
c.2227G>T
p.(Glu743*)
E743*
PathogenicVALIDATED
 2017-11-162020-04-12
exon 6
c.2248C>G
p.(Leu750Val)
L750V
PathogenicVALIDATED
 2007-12-252021-05-26
exon 6
c.2282G>A
p.(Cys761Tyr)
C761Y
Uncertain significance (VUS)VALIDATED
 2009-03-232021-05-26
intron 6
c.2300+12G>A
p.?
c.2300+12G>A
Not classifiedTo be validated
 2011-03-042011-03-04
intron 6
c.2300+17C>A
p.?
c.2300+17C>A
Not classifiedTo be validated
 2008-01-03 
intron 6
c.2300+34T>C
p.?
c.2300+34T>C
Not classifiedTo be validated
 2008-01-03 
intron 6
c.2300+47A>G
p.?
c.2300+47A>G
Not classifiedTo be validated
 2009-07-282011-03-04
intron 6
c.2300+57T>C
p.?
c.2300+57T>C
Not classifiedTo be validated
 2008-01-03 
intron 6
c.2300+128C>T
p.?
c.2300+128C>T
Not classifiedTo be validated
 2008-03-012008-03-02
intron 6
c.2300+322C>T
p.?
c.2300+322C>T
Not classifiedTo be validated
 2008-07-112008-09-18
intron 6
c.2300+331A>G
p.?
c.2300+331A>G
Not classifiedTo be validated
 2008-07-112008-09-18
intron 6
c.2300+340delT
p.?
c.2300+340delT
Not classifiedTo be validated
 2011-03-042011-03-04
intron 6
c.2301-611_2377del
p.?
R767RfsX12
PathogenicVALIDATED
 2009-12-172020-08-31
intron 6
c.2301-58A>G
p.?
c.2301-58A>G
Not classifiedTo be validated
 2011-03-042011-03-09
intron 6
c.2301-44A>T
p.?
c.2301-44A>T
Not classifiedTo be validated
 2011-03-042011-03-09
exon 7
c.2325G>A
p.(Pro775=)
P775P
Likely benignVALIDATED
 2009-02-042009-02-05
exon 7
c.2327_2333del
p.(Glu776Glyfs*14)
E776Gfs*14
PathogenicVALIDATED
 2017-11-162021-05-26
exon 7
c.2334G>A
p.(Trp778*)
W778X
PathogenicVALIDATED
 2009-04-032020-08-27
exon 7
c.2364C>T
p.(Asn788=)
N788N
Likely benignVALIDATED
 2012-10-172012-10-22
exon 7
c.2383C>T
p.(Arg795Cys)
R795C
Likely benignVALIDATED
 2009-06-172021-05-26
exon 7
c.2389_2390del
p.(Ala798Glnfs*6)
A798fs
Likely pathogenicTo be validated
 2024-06-062024-06-07
exon 7
c.2444G>A
p.(Arg815His)
R815H
Uncertain significance (VUS)VALIDATED
 2008-12-282021-05-26
exon 7
c.2458del
p.(Leu820Cysfs*29)
L820Cfs*29
Likely pathogenicVALIDATED
 2014-04-012020-11-22
exon 7
c.2468T>A
p.(Leu823*)
L823X
Likely pathogenicVALIDATED
 2010-04-062011-05-27
intron 7
c.2471+1G>A
p.Leu825*
IVS7+1G>A
PathogenicVALIDATED
 2006-08-102021-05-26
intron 7
c.2471+47A>G
p.?
c.2471+47A>G
Not classifiedTo be validated
 2012-02-29 
intron 7
c.2471+81_2471+82insG
p.?
c.2471+81_82ins
Not classifiedTo be validated
 2008-03-012019-03-11
intron 7
c.2472-181G>A
p.?
c.2472-181G>A
Not classifiedTo be validated
 2008-07-112008-09-18
intron 7
c.2472-126A>G
p.?
c.2472-126A>G
Not classifiedTo be validated
 2008-03-05 
intron 7
c.2472-67A>G
p.?
c.2472-67A>G
Not classifiedTo be validated
 2008-03-012008-03-02
exon 8
c.2482_2483delTG
p.(Cys828Serfs*40)
c.2482_2483delTG
PathogenicVALIDATED
 2012-07-142020-04-12
exon 8
c.2497G>A
p.(Ala833Thr)
A833T
Uncertain significance (VUS)VALIDATED
 2009-06-172012-02-16
exon 8
c.2571dupC
p.(Ile858Hisfs*11)
I858HfsX11
PathogenicVALIDATED
 2009-12-172020-08-27
exon 8
c.2573T>C
p.(Ile858Thr)
I858T
Uncertain significance (VUS)VALIDATED
 2015-10-272021-05-26
exon 8
c.2616C>A
p.(Tyr872*)
Y872*
PathogenicVALIDATED
 2012-02-102021-05-26
exon 8
c.2639T>C
p.(Leu880Ser)
L880S
Uncertain significance (VUS)VALIDATED
 2008-05-162020-04-12
intron 8
c.2642+114G>A
p.?
c.2642+114G>A
Not classifiedTo be validated
 2009-07-282019-01-15
intron 8
c.2643-1390T>C
p.?
c.2643-1390T>C
Not classifiedTo be validated
 2008-07-112008-09-18
intron 8
c.2643-364G>T
p.?
c.2643-364G>T
Not classifiedTo be validated
 2008-07-112008-09-18
intron 8
c.2643-246T>G
p.?
c.2643-246T>G
Not classifiedTo be validated
 2008-07-112008-09-18
exon 9
c.2682T>C
p.(Tyr894=)
Y894Y
BenignVALIDATED
 2007-05-282008-03-02
exon 9
c.2706C>T
p.(Ala902=)
A902A
BenignVALIDATED
 2008-03-012008-03-02
exon 9
c.2721C>T
p.(Asn907=)
N907N
Likely benignVALIDATED
 2008-05-16 
exon 9
c.2738A>G
p.(Asn913Ser)
N913S
PathogenicVALIDATED
 2006-08-102021-05-26
exon 9
c.2759G>A
p.(Trp920*)
W920*
PathogenicVALIDATED
 2015-10-222020-08-27
exon 9
c.2760G>A
p.(Trp920*)
W920*(2760)
PathogenicVALIDATED
 2021-02-032022-01-19
exon 9
c.2775A>G
p.(Ala925=)
A925A
BenignVALIDATED
 2007-05-282008-02-28
exon 9
c.2777T>G
p.(Leu926*)
L926*
PathogenicVALIDATED
 2013-06-052020-08-27
exon 9
c.2791_2792delTG
p.(Cys931*)
C931X
PathogenicVALIDATED
 2009-06-172020-04-12
intron 9
c.2810+2T>G
p.Arg937_Leu938ins54
c.2810+2T>G
PathogenicVALIDATED
 2007-12-252020-08-31
intron 9
c.2810+26T>C
p.?
c.2810+26T>C
Not classifiedTo be validated
 2008-07-112008-08-06
intron 9
c.2810+57T>C
p.?
c.2810+57T>C
Not classifiedTo be validated
 2008-03-01 
intron 9
c.2810+98C>T
p.?
c.2810+98C>T
Not classifiedTo be validated
 2008-01-03 
intron 9
c.2810+123G>A
p.?
c.2810+123G>A
Not classifiedTo be validated
 2008-01-03 
intron 9
c.2810+126T>C
p.?
c.2810+126T>C
Not classifiedTo be validated
 2008-01-03 
intron 9
c.2810+171T>A
p.?
c.2810+171T>A
Not classifiedTo be validated
 2008-03-01 
intron 9
c.2810+176T>C
p.?
c.2810+176T>C
Not classifiedTo be validated
 2011-03-042011-03-04
intron 9
c.2810+224G>A
p.?
c.2810+224G>A
Not classifiedTo be validated
 2008-07-112008-08-06
intron 9
c.2810+276A>G
p.?
c.2810+276A>G
Not classifiedTo be validated
 2011-03-042011-03-04
intron 9
c.2811-1214C>T
p.?
c.2811-1214C>T
Not classifiedTo be validated
 2008-07-112008-08-25
intron 9
c.2811-695T>C
p.?
c.2811-695T>C
Not classifiedTo be validated
 2008-07-112008-08-27
intron 9
c.2811-678C>A
p.?
c.2811-678C>A
Not classifiedTo be validated
 2008-07-112008-08-27
intron 9
c.2811-559A>G
p.?
c.2811-559A>G
Not classifiedTo be validated
 2008-03-052008-06-24
intron 9
c.2811-527C>T
p.?
c.2811-527C>T
Not classifiedTo be validated
 2011-03-042011-03-04
intron 9
c.2811-523C>T
p.?
c.2811-523C>T
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-496T>C
p.?
c.2811-496T>C
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-416C>A
p.?
c.2811-416C>A
Not classifiedTo be validated
 2011-03-042011-03-04
intron 9
c.2811-402C>T
p.?
c.2811-402C>T
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-399A>G
p.?
c.2811-399A>G
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-394G>T
p.?
c.2811-394G>T
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-376G>A
p.?
c.2811-376G>A
Not classifiedTo be validated
 2011-03-042011-03-04
intron 9
c.2811-329A>G
p.?
c.2811-329A>G
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-312C>A
p.?
c.2811-312C>A
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-279G>T
p.?
c.2811-279G>T
Not classifiedTo be validated
 2011-03-042011-03-04
intron 9
c.2811-228T>C
p.?
c.2811-228T>C
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-194A>T
p.?
c.2811-194A>T
Not classifiedTo be validated
 2011-03-042011-03-04
intron 9
c.2811-178G>A
p.?
c.2811-178G>A
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-135C>T
p.?
c.2811-135C>T
Not classifiedTo be validated
 2008-07-112008-08-06
intron 9
c.2811-114G>A
p.?
c.2811-114G>A
Not classifiedTo be validated
 2011-03-042011-03-04
intron 9
c.2811-54T>G
p.?
c.2811-54T>G
Not classifiedTo be validated
 2008-01-032008-06-24
intron 9
c.2811-37C>T
p.?
c.2811-37C>T
Not classifiedTo be validated
 2008-03-052008-06-24
intron 9
c.2811-34T>G
p.?
c.2811-34T>G
Not classifiedTo be validated
 2008-03-012008-06-24
intron 9
c.2811-28C>T
p.?
c.2811-28C>T
Not classifiedTo be validated
 2008-05-162008-06-24
intron 9
c.2811-25G>C
p.?
c.2811-25G>C
Not classifiedTo be validated
 2008-08-21 
intron 9
c.2811-23A>G
p.?
c.2811-23A>G
Not classifiedTo be validated
 2008-01-032008-06-24
intron 9
c.2811-15G>A
p.?
c.2811-15G>A
Not classifiedTo be validated
 2014-09-162014-09-17
exon 10
c.2891T>C
p.(Leu964Pro)
L964P
Uncertain significance (VUS)VALIDATED
 2008-05-162021-05-26
exon 10
c.2940_2941insC
p.(Gly981Argfs*19)
G981Rfs
PathogenicVALIDATED
 2013-10-202020-04-12
intron 10
c.2981+29_2981+32del
p.?
c.2981+29_32delGTTT
Not classifiedTo be validated
 2008-01-032019-03-11
intron 10
c.2981+33G>T
p.?
c.2981+33G>T
Not classifiedTo be validated
 2008-07-112008-08-06
intron 10
c.2981+123T>C
p.?
c.2981+123T>C
Not classifiedTo be validated
 2008-03-012008-06-24
intron 10
c.2981+142C>A
p.?
c.2981+142C>A
Not classifiedTo be validated
 2008-03-012008-06-24
intron 10
c.2981+363T>C
p.?
c.2981+363T>C
Not classifiedTo be validated
 2011-03-042011-03-07
intron 10
c.2982-401T>C
p.?
c.2982-401T>C
Not classifiedTo be validated
 2011-03-042011-03-07
intron 10
c.2982-28delG
p.?
c.2982-28delG
Not classifiedTo be validated
 2008-01-032008-06-24
intron 10
c.2982-2A>G
p.?
c.2982-2A>G
PathogenicVALIDATED
 2013-06-052020-07-06
exon 11
c.3062A>T
p.(Asp1021Val)
D1021V
Not classifiedTo be validated
 2020-07-032020-11-24
exon 11
c.3082A>G
p.(Thr1028Ala)
T1028A
Likely benignVALIDATED
 2007-10-172009-05-21
3UT
c.*5C>T
p.?
c.*5C>T
Not classifiedTo be validated
 2011-03-042011-03-04
3UT
c.*20C>T
p.?
c.*20C>T
Not classifiedTo be validated
 2011-03-042011-03-04
3UT
c.*44G>A
p.?
c.*44G>A
Not classifiedTo be validated
 2011-03-042011-03-04
3UT
c.*180G>C
p.?
c.*180G>C
Not classifiedTo be validated
 2008-03-052009-07-15
3 flanking
c.*236C>T
p.?
c.*236C>T
Not classifiedTo be validated
 2011-03-042021-02-11
3 flanking
c.*290T>C
p.?
c.*290T>C
Not classifiedTo be validated
 2008-03-012008-03-02