CARD14 (NM_024110.4) sequence variants
(CARMA2, BIMP2)

Editor(s): Francesca CAPON   

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Total current number of sequence variants for CARD14 : 57

*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 2
c.185G>A
p.(Arg62Gln)
R62Q
Not classifiedTo be validated
 2015-12-07
exon 2
c.205C>T
p.(Arg69Trp)
R69W
Not classifiedTo be validated
 2015-12-07
exon 2
c.206G>A
p.(Arg69Gln)
R69Q
Not classifiedTo be validated
 2013-06-26
exon 3
c.329T>C
p.(Val110Ala)
V110A
Not classifiedTo be validated
 2019-05-13
exon 3
c.349G>A
p.(Ser116_Gly117ins22)
G117S
Not classifiedTo be validated
 2013-04-15
intron 3
c.349+1G>A
p.(Ser116_Gly117ins22)
c.349+1G>A
Not classifiedTo be validated
 2013-04-15
intron 3
c.349+5G>A
p.(Ser116_Gly117ins22)
c.349+5G>A
Not classifiedTo be validated
 2013-04-15
exon 4
c.355A>G
p.(Met119Val)
M119V
Not classifiedTo be validated
 2014-08-01
exon 4
c.362C>T
p.(Thr121Ile)
T121I
Not classifiedTo be validated
 2019-05-13
exon 4
c.371T>C
p.(Leu124Pro)
L124P
Not classifiedTo be validated
 2014-10-31
exon 4
c.412_414delGAG
p.(Glu138del)
E138del
Not classifiedTo be validated
 2013-04-15
exon 4
c.413A>C
p.(Glu138Ala)
E138A
Not classifiedTo be validated
 2013-04-15
exon 4
c.449T>G
p.(Leu150Arg)
L150R
Not classifiedTo be validated
 2015-12-07
exon 4
c.451C>T
p.(Arg151Trp)
R151W
Not classifiedTo be validated
 2015-12-07
exon 4
c.452G>A
p.(Arg151Gln)
R151Q
Not classifiedTo be validated
 2015-12-07
exon 4
c.467T>C
p.(Leu156Pro)
L156P
Not classifiedTo be validated
 2013-04-15
exon 4
c.497G>A
p.(Arg166His)
R166H
Not classifiedTo be validated
 2014-08-01
exon 4
c.526G>C
p.(Asp176His)
D176H
Not classifiedTo be validated
 2014-02-05
exon 4
c.589G>A
p.(Glu197Lys)
E197K
Not classifiedTo be validated
 2015-12-04
exon 4
c.599G>A
p.(Ser200Asn)
S200N
Not classifiedTo be validated
 2013-06-26
exon 4
c.626T>C
p.(Leu209Pro)
L209P
Not classifiedTo be validated
 2015-12-07
exon 4
c.646G>A
p.(Ala216Thr)
A216T
Not classifiedTo be validated
 2019-05-13
exon 4
c.652C>T
p.(Arg218Cys)
R218C
Not classifiedTo be validated
 2015-12-07
exon 5
c.796C>T
p.(Arg266Cys)
R266C
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 6
c.931C>T
p.(Arg311Trp)
R311W
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 7
c.1012A>G
p.(Met338Val)
M338V
Not classifiedTo be validated
 2015-12-07
exon 7
c.1049T>C
p.(Leu350Pro)
L350P
Not classifiedTo be validated
 2015-12-07
exon 7
c.1060G>A
p.(Val354Met)
V354M
Uncertain significance (VOUS)To be validated
 2019-05-13
intron 7
c.1090-2A>G
-
c.1090-2A>G
Not classifiedTo be validated
 2015-12-23
exon 8
c.1091C>T
p.(Ala364Val)
A364V
Not classifiedTo be validated
 2015-12-04
exon 9
c.1258A>G
p.(Thr420Ala)
T420A
Not classifiedTo be validated
 2015-12-07
exon 9
c.1264G>A
p.(Glu422Lys)
E422K
Likely benignTo be validated
 2019-07-16
exon 9
c.1288C>T
p.(Arg430Trp)
R430W
Not classifiedTo be validated
 2017-08-07
intron 9
c.1356+5G>A
-
c.1356+5G>A
Not classifiedTo be validated
 2015-12-07
intron 9
c.1357-1G>A
p.?
c.1357-1G>A
Uncertain significance (VOUS)To be validated
 2019-03-27
exon 11
c.1517C>T
p.(Pro506Leu)
P506L
Likely benignTo be validated
 2019-07-16
exon 11
c.1530dupG
p.(Ala512Serfs*6)
A512Sfs*6
Not classifiedTo be validated
 2019-05-13
exon 11
c.1534G>A
p.(Ala512Thr)
A512T
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 12
c.1641G>C
p.(Arg547Ser)
R547S
Not classifiedTo be validated
 2014-03-10
exon 13
c.1663G>A
p.(Val555Ile)
V555I
Likely benignTo be validated
 2019-07-16
exon 13
c.1772C>T
p.(Thr591Met)
T591M
Not classifiedTo be validated
 2014-08-01
exon 13
c.1799C>T
p.(Pro600Leu)
P600L
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 13
c.1805C>T
p.(Ser602Leu)
S602L
Not classifiedTo be validated
 2015-12-07
exon 13
c.1808C>T
p.(Ala603Val)
A603V
Not classifiedTo be validated
 2019-05-13
exon 13
c.1829G>A
p.(Arg610His)
R610H
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 14
c.1916C>G
p.(Ala639Gly)
A639G
Not classifiedTo be validated
 2015-12-07
exon 15
c.2044C>T
p.(Arg682Trp)
R682W
Likely benignTo be validated
 2019-07-16
intron 17
c.2399-4A>G
-
c.2399-4A>G
Not classifiedTo be validated
 2014-03-10
exon 18
c.2458C>T
p.(Arg820Trp)
R820W
Not classifiedTo be validated
 2014-03-10
exon 18
c.2476C>T
p.(Arg826Trp)
R826W
Not classifiedTo be validated
 2013-06-26
exon 18
c.2539C>T
p.(Leu847Phe)
L847F
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 19
c.2648G>A
p.(Arg883His)
R883H
Not classifiedTo be validated
 2014-03-10
exon 20
c.2789_2791del
p.(Lys930del)
c.2789_2791del
Uncertain significance (VOUS)To be validated
 2019-03-27
exon 21
c.2870_2872del
p.(Glu957del)
E957DEL
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 21
c.2919C>G
p.(Asp973Glu)
D973E
Likely benignTo be validated
 2019-05-13
3UT
c.*18C>T
p.?
*18C>T
Not classifiedTo be validated
 2019-05-13
3UT
c.*19G>A
p.?
*19G>A
Uncertain significance (VOUS)To be validated
 2019-05-13