NLRP12 (NM_144687.2) sequence variants
(NALP12/PYPAF7/CLR19.3/PAN6/RNO2/Monarch-1)

Editor(s): Isabelle JERU   

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 NLRP12 : 62

*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
exon 3
c.629C>T
p.(Pro210Leu)
P210L
Likely benignTo be validated
 2019-07-16
exon 3
c.1519G>A
p.(Glu507Lys)
E507K
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 3
c.883_884del
p.(Gly295Leufs*3)
G295fs
Likely pathogenicTo be validated
 2019-07-16
exon 8
c.2869G>A
p.(Gly957Ser)
G957S
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 3
c.1572G>A
p.(Met524Ile)
M524I
Likely benignTo be validated
 2019-07-16
exon 3
c.986G>A
p.(Arg329Gln)
R329Q
Likely benignTo be validated
 2019-07-16
exon 8
c.2819A>G
p.(Asn940Ser)
N940S
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 9
c.2932G>C
p.(Asp978His)
D978H
Likely benignTo be validated
 2019-07-16
exon 10
c.3099G>A
p.(Trp1033*)
W1033*
Likely pathogenicTo be validated
 2019-07-16
exon 3
c.1527C>A
p.(Tyr509Ter)
Y509X
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 9
c.3025G>T
p.(Ala1009Ser)
c.3025G>T
Uncertain significance (VOUS)To be validated
 2019-05-16
exon 3
c.1211C>T
p.(Pro404Leu)
P404L
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 3
c.1316T>A
p.(Leu439Gln)
L439Q
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 3
c.1444C>T
p.(Arg482Trp)
R482W
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 6
c.2518G>C
p.(Glu840Gln)
E840Q
Uncertain significance (VOUS)To be validated
 2019-05-13
intron 7
c.2756+2T>A
p.?
2756+2T>A
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 10
c.3127A>G
p.(Thr1043Ala)
T1043A
Likely pathogenicTo be validated
 2019-05-13
exon 3
c.431A>G
p.(Asn144Ser)
N144S
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 3
c.437G>A
p.(Arg146His)
R146H
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 3
c.857C>T
p.(Pro286Leu)
P286L
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 3
c.1732A>G
p.(Ser578Gly)
S578G
Not classifiedTo be validated
 2019-05-13
exon 3
c.1223G>A
p.(Trp408*)
W408*
Not classifiedTo be validated
 2019-05-13
exon 4
c.2191A>C
p.(Lys731Gln)
K731Q
Not classifiedTo be validated
 2019-05-13
exon 3
c.1109G>A
p.(Arg370Lys)
c.1109G>A
Uncertain significance (VOUS)To be validated
 2019-03-27
exon 3
c.536C>T
p.(Thr179Ile)
T179I
Not classifiedTo be validated
 2019-02-26
exon 5
c.2357G>T
p.(Gly786Val)
G787V
Not classifiedTo be validated
 2018-12-05
exon 3
c.1022C>T
p.(Thr341Ile)
T341I
Not classifiedTo be validated
 2018-07-31
exon 8
c.2877G>A
p.(Trp959*)
W959*
Not classifiedTo be validated
 2015-12-28
exon 1
c.154G>A
p.(Gly52Ser)
c.154G>A
Not classifiedTo be validated
 2014-10-06
exon 3
c.1886C>A
p.(Ala629Asp)
A629D
Not classifiedTo be validated
 2014-07-30
exon 3
c.2047G>A
p.(Gly683Arg)
G683R
Not classifiedTo be validated
 2013-05-30
intron 7
c.2757-1G>T
-
c.2757-1G>T
Not classifiedTo be validated
 2013-01-30
intron 1
c.289+6G>C
-
c.289+6G>C
Not classifiedTo be validated
 2012-03-13
exon 3
c.1054C>T
p.(Arg352Cys)
R352C
Not classifiedTo be validated
 2011-02-07
exon 3
c.779C>T
p.(Thr260Met)
T260M
Likely pathogenicTo be validated
 2011-01-28
exon 3
c.882C>G
p.(Asp294Glu)
D294E
Not classifiedTo be validated
 2010-12-07
exon 3
c.910C>T
p.(His304Tyr)
H304Y
Not classifiedTo be validated
 2010-12-07
5UT
c.-140T>A
-
c.-140T>A
Not classifiedTo be validated
 2009-12-10
5UT
c.-12C>T
-
c.-12C>T
Not classifiedTo be validated
 2009-12-10
exon 1
c.116G>T
p.(Gly39Val)
G39V
Not classifiedTo be validated
 2009-12-10
intron 1
c.289+18C>T
-
c.289+18C>T
Not classifiedTo be validated
 2009-12-10
intron 2
c.371-43C>T
-
c.371-43C>T
Not classifiedTo be validated
 2009-12-10
exon 3
c.819T>C
p.(=)
P273P
Not classifiedTo be validated
 2009-12-10
intron 4
c.2243+35C>T
-
c.2243+35C>T
Not classifiedTo be validated
 2009-12-10
exon 5
c.2394G>A
p.(=)
Q798Q
Not classifiedTo be validated
 2009-12-10
exon 6
c.2469C>A
p.(=)
L823L(C>A)
Not classifiedTo be validated
 2009-12-10
exon 6
c.2469C>T
p.(=)
L823L(C>T)
Not classifiedTo be validated
 2009-12-10
exon 7
c.2701G>C
p.(Val901Leu)
V901L
Not classifiedTo be validated
 2009-12-10
exon 7
c.2754G>C
p.(=)
L918L
Not classifiedTo be validated
 2009-12-10
exon 8
c.2784C>T
p.(=)
A928A
Not classifiedTo be validated
 2009-12-10
exon 8
c.2830C>A
p.(=)
R944R
Not classifiedTo be validated
 2009-12-10
exon 9
c.2988C>A
p.(=)
I996I
Not classifiedTo be validated
 2009-12-10
exon 9
c.3046C>T
p.(Arg1016*)
R1016X
Not classifiedTo be validated
 2009-12-10
intron 9
c.3098+99G>A
-
c.3098+99G>A
Not classifiedTo be validated
 2009-12-10
intron 9
c.3099-33A>G
-
c.3099-33A>G
Not classifiedTo be validated
 2009-12-10
exon 3
c.424G>A
p.(Asp142Asn)
D142N
Not classifiedTo be validated
 2008-08-21
exon 3
c.956C>G
p.(Pro319Arg)
P319R
Not classifiedTo be validated
 2008-08-21
exon 3
c.1343G>C
p.(Gly448Ala)
G448A
Not classifiedTo be validated
 2008-08-21
exon 3
c.609C>T
p.(=)
D203D
Not classifiedTo be validated
 2008-08-21
exon 3
c.850C>T
p.(Arg284*)
R284X
Not classifiedTo be validated
 2008-03-04
intron 3
c.2072+2dupT
-
c.2072+3insT
Not classifiedTo be validated
 2008-03-04
exon 3
c.1206C>G
p.(Phe402Leu)
F402L
Not classifiedTo be validated
 2008-03-04