NLRP12 (NM_144687.4) sequence variants
(NALP12/PYPAF7/CLR19.3/PAN6/RNO2/Monarch-1)

Editor(s): Isabelle JERU   

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 NLRP12 : 86

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

** 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
5UT
c.-140T>A
p.?
c.-140T>A
Not classifiedTo be validated
 2009-12-10 
5UT
c.-12C>T
p.?
c.-12C>T
Not classifiedTo be validated
 2009-12-10 
exon 1
c.116G>T
p.(Gly39Val)
G39V
Not classifiedTo be validated
 2009-12-102014-06-12
exon 1
c.154G>A
p.(Gly52Ser)
c.154G>A
Not classifiedTo be validated
 2014-10-06 
exon 1
c.210G>A
p.(Trp70*)
W70*
Uncertain significance (VUS)To be validated
 2019-11-08 
intron 1
c.289+6G>C
p.?
c.289+6G>C
Not classifiedTo be validated
 2012-03-132012-03-27
intron 1
c.289+18C>T
p.?
c.289+18C>T
Not classifiedTo be validated
 2009-12-10 
intron 2
c.371-43C>T
p.?
c.371-43C>T
Not classifiedTo be validated
 2009-12-10 
exon 3
c.376C>T
p.(Gln126*)
Q126X
Likely benignTo be validated
 2019-09-242019-10-30
exon 3
c.424G>A
p.(Asp142Asn)
D142N
Not classifiedTo be validated
 2008-08-212014-08-07
exon 3
c.431A>G
p.(Asn144Ser)
N144S
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 3
c.437G>A
p.(Arg146His)
R146H
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 3
c.536C>T
p.(Thr179Ile)
T179I
Not classifiedTo be validated
 2019-02-26 
exon 3
c.541C>T
p.(Arg181Trp)
R181W
Uncertain significance (VUS)To be validated
 2022-02-212022-05-23
exon 3
c.609C>T
p.(Asp203=)
D203D
Not classifiedTo be validated
 2008-08-21 
exon 3
c.629C>T
p.(Pro210Leu)
P210L
Likely benignTo be validated
 2019-07-16 
exon 3
c.652G>A
p.(Ala218Thr)
A218T
Uncertain significance (VUS)To be validated
 2023-03-032024-10-21
exon 3
c.753C>G
p.Asn251Lys
N251K
Uncertain significance (VUS)To be validated
 2024-07-02 
exon 3
c.779C>T
p.(Thr260Met)
T260M
Likely benignTo be validated
 2011-01-282024-10-21
exon 3
c.819T>C
p.(Pro273=)
P273P
Not classifiedTo be validated
 2009-12-102022-01-24
exon 3
c.850C>T
p.(Arg284*)
R284X
Not classifiedTo be validated
 2008-03-042008-05-17
exon 3
c.857C>T
p.(Pro286Leu)
P286L
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14
exon 3
c.882C>G
p.(Asp294Glu)
D294E
Not classifiedTo be validated
 2010-12-072012-12-28
exon 3
c.883_884del
p.(Gly295Leufs*3)
G295fs
Uncertain significance (VUS)To be validated
 2019-07-162024-10-21
exon 3
c.910C>T
p.(His304Tyr)
H304Y
Not classifiedTo be validated
 2010-12-07 
exon 3
c.956C>G
p.(Pro319Arg)
P319R
Not classifiedTo be validated
 2008-08-212010-02-10
exon 3
c.986G>A
p.(Arg329Gln)
R329Q
Likely benignTo be validated
 2019-07-16 
exon 3
c.1022C>T
p.(Thr341Ile)
T341I
Not classifiedTo be validated
 2018-07-312018-07-31
exon 3
c.1054C>T
p.(Arg352Cys)
R352C
Not classifiedTo be validated
 2011-02-07 
exon 3
c.1109G>A
p.(Arg370Lys)
c.1109G>A
Uncertain significance (VUS)To be validated
 2019-03-27 
exon 3
c.1113_1116delGGAA
p.(Lys371Asnfs*20)
K371Nfs*20
Uncertain significance (VUS)To be validated
 2019-11-08 
exon 3
c.1206C>G
p.(Phe402Leu)
F402L
Not classifiedTo be validated
 2008-03-042008-08-21
exon 3
c.1211C>T
p.(Pro404Leu)
P404L
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 3
c.1223G>A
p.(Trp408*)
W408*
Not classifiedTo be validated
 2019-05-13 
exon 3
c.1316T>A
p.(Leu439Gln)
L439Q
Uncertain significance (VUS)To be validated
 2019-05-132023-02-09
exon 3
c.1343G>C
p.(Gly448Ala)
G448A
Not classifiedTo be validated
 2008-08-21 
exon 3
c.1444C>T
p.(Arg482Trp)
R482W
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14
exon 3
c.1519G>A
p.(Glu507Lys)
E507K
Uncertain significance (VUS)To be validated
 2019-07-16 
exon 3
c.1527C>A
p.(Tyr509Ter)
Y509X
Uncertain significance (VUS)To be validated
 2019-07-16 
exon 3
c.1572G>A
p.(Met524Ile)
M524I
Likely benignTo be validated
 2019-07-16 
exon 3
c.1645G>A
p.(Ala549Thr)
A549T
Likely benignTo be validated
 2019-12-192023-08-01
exon 3
c.1673T>G
p.(Leu558Arg)
L558R
Not classifiedTo be validated
 2021-01-11 
exon 3
c.1712C>G
p.(Thr571Ser)
T571S
Not classifiedTo be validated
 2020-06-02 
exon 3
c.1732A>G
p.(Ser578Gly)
S578G
Not classifiedTo be validated
 2019-05-13 
exon 3
c.1742G>A
p.(Trp581*)
W581X
Not classifiedTo be validated
 2021-01-11 
exon 3
c.1756C>T
p.(His586Tyr)
H586Y
Uncertain significance (VUS)To be validated
 2024-03-052024-03-06
exon 3
c.1771C>A
p.(Leu591Met)
L591M
Uncertain significance (VUS)To be validated
 2020-04-022024-10-21
exon 3
c.1886C>A
p.(Ala629Asp)
A629D
Not classifiedTo be validated
 2014-07-30 
exon 3
c.1922T>C
p.(Ile641Thr)
I641T
Not classifiedTo be validated
 2021-01-11 
exon 3
c.1952C>A
p.(Ser651*)
S651*
Uncertain significance (VUS)To be validated
 2023-09-22 
exon 3
c.2047G>A
p.(Gly683Arg)
G683R
Not classifiedTo be validated
 2013-05-302013-07-10
intron 3
c.2072+2dupT
p.?
c.2072+3insT
Not classifiedTo be validated
 2008-03-042011-09-01
exon 4
c.2126T>C
p.(Leu709Pro)
L710P
Not classifiedTo be validated
 2021-01-112021-05-27
exon 4
c.2135A>G
p.(Asn712Ser)
N712S
Uncertain significance (VUS)To be validated
 2020-07-01 
exon 4
c.2185G>C
p.(Gly729Arg)
G730R
Not classifiedTo be validated
 2021-01-11 
exon 4
c.2188dup
p.(Val730Glyfs*41)
V730Glyfs*41
Uncertain significance (VUS)To be validated
 2024-05-06 
exon 4
c.2191A>C
p.(Lys731Gln)
K731Q
Not classifiedTo be validated
 2019-05-13 
exon 4
c.2222A>G
p.(Asn741Ser)
N241S
Not classifiedTo be validated
 2020-06-02 
intron 4
c.2243+35C>T
p.?
c.2243+35C>T
Not classifiedTo be validated
 2009-12-10 
exon 5
c.2258G>A
p.(Arg753His)
R753H
Uncertain significance (VUS)To be validated
 2020-04-222020-11-24
exon 5
c.2357G>T
p.(Gly786Val)
G787V
Not classifiedTo be validated
 2018-12-052019-04-15
exon 5
c.2394G>A
p.(Gln798=)
Q798Q
Not classifiedTo be validated
 2009-12-10 
exon 6
c.2469C>A
p.(Leu823=)
L823L(C>A)
Not classifiedTo be validated
 2009-12-10 
exon 6
c.2469C>T
p.(Leu823=)
L823L(C>T)
Not classifiedTo be validated
 2009-12-10 
exon 6
c.2512G>A
p.(Ala838Thr)
A121T
Not classifiedTo be validated
 2020-06-02 
exon 6
c.2518G>C
p.(Glu840Gln)
E840Q
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14
exon 7
c.2701G>C
p.(Val901Leu)
V901L
Not classifiedTo be validated
 2009-12-102010-02-10
exon 7
c.2754G>C
p.(Leu918=)
L918L
Not classifiedTo be validated
 2009-12-102022-01-24
intron 7
c.2756+2T>A
p.?
2756+2T>A
Uncertain significance (VUS)To be validated
 2019-05-13 
intron 7
c.2757-1G>T
p.?
c.2757-1G>T
Not classifiedTo be validated
 2013-01-30 
exon 8
c.2784C>T
p.(Ala928=)
A928A
Not classifiedTo be validated
 2009-12-10 
exon 8
c.2785G>A
p.(Ala929Thr)
A930T
Not classifiedTo be validated
 2021-01-11 
exon 8
c.2819A>G
p.(Asn940Ser)
N940S
Uncertain significance (VUS)To be validated
 2019-07-16 
exon 8
c.2830C>A
p.(Arg944=)
R944R
Not classifiedTo be validated
 2009-12-10 
exon 8
c.2869G>A
p.(Gly957Ser)
G957S
Uncertain significance (VUS)To be validated
 2019-07-16 
exon 8
c.2877G>A
p.(Trp959*)
W959*
Not classifiedTo be validated
 2015-12-282016-12-27
exon 9
c.2932G>C
p.(Asp978His)
D978H
Likely benignTo be validated
 2019-07-16 
exon 9
c.2935A>G
p.(Ser979Gly)
S979G
Uncertain significance (VUS)To be validated
 2019-08-26 
exon 9
c.2988C>A
p.(Ile996=)
I996I
Not classifiedTo be validated
 2009-12-102022-01-24
exon 9
c.3025G>T
p.(Ala1009Ser)
c.3025G>T
Uncertain significance (VUS)To be validated
 2019-05-16 
exon 9
c.3046C>T
p.(Arg1016*)
R1016X
Not classifiedTo be validated
 2009-12-102022-01-24
exon 9
c.3088C>T
p.(Arg1030*)
R1030*
Uncertain significance (VUS)To be validated
 2022-08-10 
intron 9
c.3098+99G>A
p.?
c.3098+99G>A
Not classifiedTo be validated
 2009-12-10 
intron 9
c.3099-33A>G
p.?
c.3099-33A>G
Not classifiedTo be validated
 2009-12-10 
exon 10
c.3099G>A
p.(Trp1033*)
W1033*
Uncertain significance (VUS)To be validated
 2019-07-162024-10-21
exon 10
c.3127A>G
p.(Thr1043Ala)
T1043A
Uncertain significance (VUS)To be validated
 2019-05-132024-10-21