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

Editor(s): Isabelle JERU   

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Total current number of sequence variants for NLRP12 : 52

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