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

Editor(s): Francesca CAPON   

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Total current number of sequence variants for CARD14 : 51

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