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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 7c.1060G>Ap.(Val354Met)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 13c.1799C>Tp.(Pro600Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 13c.1808C>Tp.(Ala603Val)Not classifiedTo be validated
 2019-05-13
3UTc.*18C>Tp.?Not classifiedTo be validated
 2019-05-13
3UTc.*19G>Ap.?Uncertain significance (VOUS)To be validated
 2019-05-13
exon 18c.2539C>Tp.(Leu847Phe)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 21c.2870_2872delp.(Glu957del)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 21c.2919C>Gp.(Asp973Glu)Likely benignTo be validated
 2019-05-13
exon 3c.329T>Cp.(Val110Ala)Not classifiedTo be validated
 2019-05-13
exon 4c.362C>Tp.(Thr121Ile)Not classifiedTo be validated
 2019-05-13
exon 5c.796C>Tp.(Arg266Cys)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 6c.931C>Tp.(Arg311Trp)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 4c.646G>Ap.(Ala216Thr)Not classifiedTo be validated
 2019-05-13
exon 11c.1530dupGp.(Ala512Serfs*6)Not classifiedTo be validated
 2019-05-13
exon 20c.2789_2791delp.(Lys930del)Uncertain significance (VOUS)To be validated
 2019-03-27
intron 9c.1357-1G>Ap.?Uncertain significance (VOUS)To be validated
 2019-03-27
exon 9c.1288C>Tp.(Arg430Trp)Not classifiedTo be validated
 2017-08-07
intron 7c.1090-2A>G-Not classifiedTo be validated
 2015-12-23
exon 2c.185G>Ap.(Arg62Gln)Not classifiedTo be validated
 2015-12-07
exon 2c.205C>Tp.(Arg69Trp)Not classifiedTo be validated
 2015-12-07
exon 4c.449T>Gp.(Leu150Arg)Not classifiedTo be validated
 2015-12-07
exon 4c.452G>Ap.(Arg151Gln)Not classifiedTo be validated
 2015-12-07
exon 7c.1012A>Gp.(Met338Val)Not classifiedTo be validated
 2015-12-07
exon 7c.1049T>Cp.(Leu350Pro)Not classifiedTo be validated
 2015-12-07
exon 9c.1258A>Gp.(Thr420Ala)Not classifiedTo be validated
 2015-12-07
intron 9c.1356+5G>A-Not classifiedTo be validated
 2015-12-07
exon 4c.451C>Tp.(Arg151Trp)Not classifiedTo be validated
 2015-12-07
exon 4c.626T>Cp.(Leu209Pro)Not classifiedTo be validated
 2015-12-07
exon 4c.652C>Tp.(Arg218Cys)Not classifiedTo be validated
 2015-12-07
exon 13c.1805C>Tp.(Ser602Leu)Not classifiedTo be validated
 2015-12-07
exon 14c.1916C>Gp.(Ala639Gly)Not classifiedTo be validated
 2015-12-07
exon 8c.1091C>Tp.(Ala364Val)Not classifiedTo be validated
 2015-12-04
exon 4c.589G>Ap.(Glu197Lys)Not classifiedTo be validated
 2015-12-04
exon 4c.371T>Cp.(Leu124Pro)Not classifiedTo be validated
 2014-10-31
exon 13c.1772C>Tp.(Thr591Met)Not classifiedTo be validated
 2014-08-01
exon 4c.497G>Ap.(Arg166His)Not classifiedTo be validated
 2014-08-01
exon 4c.355A>Gp.(Met119Val)Not classifiedTo be validated
 2014-08-01
exon 12c.1641G>Cp.(Arg547Ser)Not classifiedTo be validated
 2014-03-10
exon 18c.2458C>Tp.(Arg820Trp)Not classifiedTo be validated
 2014-03-10
intron 17c.2399-4A>G-Not classifiedTo be validated
 2014-03-10
exon 19c.2648G>Ap.(Arg883His)Not classifiedTo be validated
 2014-03-10
exon 4c.526G>Cp.(Asp176His)Not classifiedTo be validated
 2014-02-05
exon 4c.599G>Ap.(Ser200Asn)Not classifiedTo be validated
 2013-06-26
exon 18c.2476C>Tp.(Arg826Trp)Not classifiedTo be validated
 2013-06-26
exon 2c.206G>Ap.(Arg69Gln)Not classifiedTo be validated
 2013-06-26
exon 4c.467T>Cp.(Leu156Pro)Not classifiedTo be validated
 2013-04-15
exon 4c.412_414delGAGp.(Glu138del)Not classifiedTo be validated
 2013-04-15
intron 3c.349+1G>Ap.(Ser116_Gly117ins22)Not classifiedTo be validated
 2013-04-15
exon 3c.349G>Ap.(Ser116_Gly117ins22)Not classifiedTo be validated
 2013-04-15
intron 3c.349+5G>Ap.(Ser116_Gly117ins22)Not classifiedTo be validated
 2013-04-15
exon 4c.413A>Cp.(Glu138Ala)Not classifiedTo be validated
 2013-04-15