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

Editor(s): Francesca CAPON   

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Total current number of sequence variants for CARD14 : 35

* 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 2c.185G>Ap.Arg62GlnNot classifiedNot validated
 2015-12-07
exon 2c.205C>Tp.Arg69TrpNot classifiedNot validated
 2015-12-07
exon 2c.206G>Ap.Arg69GlnNot classifiedNot validated
 2013-06-26
exon 3c.349G>Ap.Ser116_Gly117ins22Not classifiedNot validated
 2013-04-15
intron 3c.349+1G>Ap.Ser116_Gly117ins22Not classifiedNot validated
 2013-04-15
intron 3c.349+5G>Ap.Ser116_Gly117ins22Not classifiedNot validated
 2013-04-15
exon 4c.355A>Gp.Met119ValNot classifiedNot validated
 2014-08-01
exon 4c.371T>Cp.Leu124ProNot classifiedNot validated
 2014-10-31
exon 4c.412_414delGAGp.Glu138delNot classifiedNot validated
 2013-04-15
exon 4c.413A>Cp.Glu138AlaNot classifiedNot validated
 2013-04-15
exon 4c.449T>Gp.Leu150ArgNot classifiedNot validated
 2015-12-07
exon 4c.451C>Tp.Arg151TrpNot classifiedNot validated
 2015-12-07
exon 4c.452G>Ap.Arg151GlnNot classifiedNot validated
 2015-12-07
exon 4c.467T>Cp.Leu156ProNot classifiedNot validated
 2013-04-15
exon 4c.497G>Ap.Arg166HisNot classifiedNot validated
 2014-08-01
exon 4c.526G>Cp.Asp176HisNot classifiedNot validated
 2014-02-05
exon 4c.589G>Ap.Glu197LysNot classifiedNot validated
 2015-12-04
exon 4c.599G>Ap.Ser200AsnNot classifiedNot validated
 2013-06-26
exon 4c.626T>Cp.Leu209ProNot classifiedNot validated
 2015-12-07
exon 4c.652C>Tp.Arg218CysNot classifiedNot validated
 2015-12-07
exon 7c.1012A>Gp.Met338ValNot classifiedNot validated
 2015-12-07
exon 7c.1049T>Cp.Leu350ProNot classifiedNot validated
 2015-12-07
intron 7c.1090-2A>G-Not classifiedNot validated
 2015-12-23
exon 8c.1091C>Tp.Ala364ValNot classifiedNot validated
 2015-12-04
exon 9c.1258A>Gp.Thr420AlaNot classifiedNot validated
 2015-12-07
exon 9c.1288C>Tp.Arg430TrpNot classifiedNot validated
 2017-08-07
intron 9c.1356+5G>A-Not classifiedNot validated
 2015-12-07
exon 12c.1641G>Cp.Arg547SerNot classifiedNot validated
 2014-03-10
exon 13c.1772C>Tp.Thr591MetNot classifiedNot validated
 2014-08-01
exon 13c.1805C>Tp.Ser602LeuNot classifiedNot validated
 2015-12-07
exon 14c.1916C>Gp.Ala639GlyNot classifiedNot validated
 2015-12-07
intron 17c.2399-4A>G-Not classifiedNot validated
 2014-03-10
exon 18c.2458C>Tp.Arg820TrpNot classifiedNot validated
 2014-03-10
exon 18c.2476C>Tp.Arg826TrpNot classifiedNot validated
 2013-06-26
exon 19c.2648G>Ap.Arg883HisNot classifiedNot validated
 2014-03-10