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

Editor(s): Francesca CAPON   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12
IKBKGIL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

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Total current number of sequence variants for CARD14 : 79

*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.149G>A
p.(Cys50Tyr)
C50Y
Likely pathogenicTo be validated
 2020-08-28 
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
 2015-12-072015-12-08
exon 2
c.206G>A
p.(Arg69Gln)
R69Q
Not classifiedTo be validated
 2013-06-26 
exon 3
c.234G>T
p.(Lys78Asn)
K78N
Not classifiedTo be validated
 2020-01-28 
exon 3
c.277A>C
p.(Lys93Gln)
K93Q
Likely pathogenicTo be validated
 2020-06-022021-01-14
exon 3
c.329T>C
p.(Val110Ala)
V110A
Not classifiedTo be validated
 2019-05-132019-05-14
exon 3
c.349G>A
p.(Ser116_Gly117ins22)
G117S
Not classifiedTo be validated
 2013-04-152022-01-19
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
 2013-04-152022-01-19
exon 4
c.355A>G
p.(Met119Val)
M119V
Not classifiedTo be validated
 2014-08-01 
exon 4
c.356T>A
p.(Met119Lys)
M119K
PathogenicTo be validated
 2021-01-192022-09-12
exon 4
c.356T>G
p.(Met119Arg)
M119R
Likely pathogenicTo be validated
 2021-01-11 
exon 4
c.356T>C
p.(Met119Thr)
M119T
Not classifiedTo be validated
 2021-01-112021-01-11
exon 4
c.362C>T
p.(Thr121Ile)
T121I
Not classifiedTo be validated
 2019-05-132019-05-14
exon 4
c.371T>C
p.(Leu124Pro)
L124P
Not classifiedTo be validated
 2014-10-312014-10-31
exon 4
c.380G>C
p.(Cys127Ser)
C127S
Not classifiedTo be validated
 2021-01-11 
exon 4
c.407A>T
p.(Gln136Leu)
Q136L
Not classifiedTo be validated
 2023-03-03 
exon 4
c.412_414delGAG
p.(Glu138del)
E138del
Not classifiedTo be validated
 2013-04-152013-04-15
exon 4
c.412G>A
p.(Glu138Lys)
E138K
Not classifiedTo be validated
 2021-01-112021-05-27
exon 4
c.413A>C
p.(Glu138Ala)
E138A
Not classifiedTo be validated
 2013-04-152022-01-19
exon 4
c.446T>G
p.(Leu149Arg)
L149R
Not classifiedTo be validated
 2019-08-21 
exon 4
c.449T>G
p.(Leu150Arg)
L150R
Not classifiedTo be validated
 2015-12-072015-12-08
exon 4
c.451C>T
p.(Arg151Trp)
R151W
Not classifiedTo be validated
 2015-12-072015-12-08
exon 4
c.452G>A
p.(Arg151Gln)
R151Q
Not classifiedTo be validated
 2015-12-072015-12-08
exon 4
c.458G>C
p.(Cys153Ser)
C153S
Likely pathogenicTo be validated
 2020-06-02 
exon 4
c.467T>C
p.(Leu156Pro)
L156P
Not classifiedTo be validated
 2013-04-15 
exon 4
c.470A>C
p.(Gln157Pro)
Q157P
Not classifiedTo be validated
 2021-01-11 
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
 2014-02-052020-08-24
exon 4
c.536G>A
p.(Arg179His)
R179H
Not classifiedTo be validated
 2020-08-28 
exon 4
c.544C>T
p.(Arg182Cys)
R182C
Not classifiedTo be validated
 2020-01-28 
exon 4
c.589G>A
p.(Glu197Lys)
E197K
Not classifiedTo be validated
 2015-12-042015-12-08
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
 2015-12-072015-12-08
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
 2015-12-072015-12-08
exon 5
c.760G>A
p.(Ala254Thr)
A254T
Uncertain significance (VUS)To be validated
 2020-07-07 
exon 5
c.796C>T
p.(Arg266Cys)
R266C
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14
exon 6
c.892C>T
p.(Arg298*)
R298*Stop
Not classifiedTo be validated
 2021-01-11 
exon 6
c.931C>T
p.(Arg311Trp)
R311W
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14
exon 6
c.956G>A
p.(Arg319Gln)
R319Q
Uncertain significance (VUS)To be validated
 2021-01-112021-02-11
exon 7
c.1012A>G
p.(Met338Val)
M338V
Not classifiedTo be validated
 2015-12-072015-12-08
exon 7
c.1049T>C
p.(Leu350Pro)
L350P
Not classifiedTo be validated
 2015-12-072015-12-08
exon 7
c.1060G>A
p.(Val354Met)
V354M
Uncertain significance (VUS)To be validated
 2019-05-132019-05-14
intron 7
c.1090-2A>G
p.?
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
 2015-12-072015-12-08
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
 2017-08-072017-08-25
intron 9
c.1356+5G>A
p.?
c.1356+5G>A
Not classifiedTo be validated
 2015-12-072015-12-08
intron 9
c.1357-1G>A
p.?
c.1357-1G>A
Uncertain significance (VUS)To be validated
 2019-03-27 
exon 10
c.1436C>G
p.(Pro479Arg)
P479R
Likely pathogenicTo be validated
 2020-08-28 
exon 10
c.1488del
p.(Trp497Glyfs*32)
c.1488del
Likely benignTo be validated
 2019-10-01 
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 (VUS)To be validated
 2019-07-16 
exon 11
c.1583T>C
p.(Leu528Pro)
L528P
Not classifiedTo be validated
 2021-01-11 
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
 2014-08-012014-08-05
exon 13
c.1799C>T
p.(Pro600Leu)
P600L
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 13
c.1805C>T
p.(Ser602Leu)
S602L
Not classifiedTo be validated
 2015-12-072015-12-08
exon 13
c.1808C>T
p.(Ala603Val)
A603V
Not classifiedTo be validated
 2019-05-132019-05-29
exon 13
c.1829G>A
p.(Arg610His)
R610H
Uncertain significance (VUS)To be validated
 2019-07-16 
exon 14
c.1916C>G
p.(Ala639Gly)
A639G
Not classifiedTo be validated
 2015-12-072015-12-08
exon 14
c.1942G>A
p.(Gly648Ser)
G648S
Likely pathogenicTo be validated
 2020-08-282020-09-14
exon 15
c.2044C>T
p.(Arg682Trp)
R682W
Likely benignTo be validated
 2019-07-16 
exon 15
c.2172C>A
p.(Tyr724*)
Y724*Stop
Not classifiedTo be validated
 2021-01-11 
intron 17
c.2399-4A>G
p.?
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 (VUS)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 (VUS)To be validated
 2019-03-27 
exon 21
c.2870_2872del
p.(Glu957del)
E957DEL
Uncertain significance (VUS)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
 2019-05-132019-05-14
3UT
c.*19G>A
p.?
*19G>A
Uncertain significance (VUS)To be validated
 2019-05-132019-05-29