MEFV (NM_000243.2) sequence variants

Editor(s): Isabelle TOUITOU   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for MEFV : 338

*This classification is proposed by the INSAID study group.
A new workflow for classification of genetic variants pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic AutoInflammatory Diseases (INSAID). Marielle E. Van Gijn, Isabella Ceccherini, Yael Shinar Ellen C. Carbo, Mariska Slofstra, Juan I. Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyinmi, Banu Peynircioglu, Hal M. Hoffman, Florian Milhavet, Morris A. Swertz, Isabelle Touitou.
J Med Genet. 2018 Mar 29.

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
5 flankingc.-979T>C-Not classifiedNot classified
 2014-03-10
5 flankingc.-888G>A-Not classifiedNot classified
 2010-04-16
5 flankingc.-792C>T-Not classifiedNot classified
 2007-01-08
5 flankingc.-751A>G-Not classifiedNot classified
 2007-01-08
5 flankingc.-740C>T-Not classifiedNot classified
 2007-01-08
5 flankingc.-614C>G-Not classifiedNot classified
 2007-01-08
5 flankingc.-382C>G-Not classifiedNot classified
 2007-01-08
5 flankingc.-330G>A-Not classifiedNot classified
 2007-01-08
5 flankingc.-170G>A-Not classifiedNot classified
 2013-02-05
5UTc.-12C>G-Uncertain significance (VOUS)VALIDATED
 2005-12-29
exon 1c.25C>Tp.(=)Likely benignVALIDATED
 2005-12-29
exon 1c.35C>Tp.Thr12IleUnsolvedUNSOLVED
 2013-05-06
exon 1c.56A>Gp.Tyr19CysUnsolvedUNSOLVED
 2013-05-06
exon 1c.74A>Gp.Lys25ArgLikely pathogenicPROVISIONAL
 2013-05-06
exon 1c.115A>Gp.Arg39GlyLikely pathogenicPROVISIONAL
 2013-05-06
exon 1c.124C>Tp.Arg42TrpUnsolvedUNSOLVED
 2001-12-11
exon 1c.171G>Ap.(=)Likely benignVALIDATED
 2014-03-11
exon 1c.184G>Tp.Gly62TrpNot classifiedNot classified
 2017-11-23
exon 1c.195C>Tp.(=)Likely benignVALIDATED
 2001-12-11
exon 1c.250G>Ap.Glu84LysLikely pathogenicPROVISIONAL
 2010-04-23
exon 1c.265G>Ap.Ala89ThrLikely pathogenicPROVISIONAL
 2004-09-01
exon 2c.289C>Ap.Gln97LysUncertain significance (VOUS)VALIDATED
 2011-01-04
exon 2c.289C>Tp.Gln97*Likely pathogenicVALIDATED
 2013-05-06
exon 2c.290A>Gp.Gln97ArgUncertain significance (VOUS)VALIDATED
 2013-03-07
exon 2c.297C>Tp.(=)Likely benignVALIDATED
 2007-03-15
exon 2c.306T>Cp.(=)BenignVALIDATED
 2001-12-24
exon 2c.309T>Cp.(=)Likely benignVALIDATED
 2001-12-11
exon 2c.314C>A p.Ala105GluUncertain significance (VOUS)VALIDATED
 2013-06-28
exon 2c.322A>Cp.Ser108ArgUncertain significance (VOUS)VALIDATED
 2002-02-12
exon 2c.322A>Gp.Ser108Gly Uncertain significance (VOUS)VALIDATED
 2017-08-18
exon 2c.329T>Cp.Leu110ProUncertain significance (VOUS)VALIDATED
2001-12-11
exon 2c.330G>Ap.(=)Likely benignVALIDATED
 2007-05-17
exon 2c.331G>Ap.Gly111ArgUncertain significance (VOUS)VALIDATED
 2012-10-01
exon 2c.332G>Ap.Gly111GluUncertain significance (VOUS)VALIDATED
 2011-09-05
exon 2c.333G>Ap.(=)Likely benignVALIDATED
 2007-02-07
exon 2c.334_335insGp.Glu112Glyfs*130UnsolvedUNSOLVED
 2002-10-15
exon 2c.343C>Ap.Pro115ThrLikely benignPROVISIONAL
 2014-01-20
exon 2c.359C>Tp.Thr120IleLikely benignVALIDATED
 2013-08-22
exon 2c.369C>Ap.His123GlnUncertain significance (VOUS)PROVISIONAL
 2014-11-27
exon 2c.372C>Tp.(=)Likely benignVALIDATED
 2001-12-11
exon 2c.375G>Ap.(=)Likely benignVALIDATED
 2005-10-06
exon 2c.382_390delp.Glu128_Asn130delLikely pathogenicPROVISIONAL
 2016-01-21
exon 2c.382_390dupp.Glu128_Asn130dupLikely pathogenicPROVISIONAL
 2004-02-05
exon 2c.390C>Tp.(=)Likely benignVALIDATED
 2014-09-24
exon 2c.406G>Ap.Gly136ArgUncertain significance (VOUS)VALIDATED
 2007-08-22
exon 2c.406G>Tp.Gly136TrpUncertain significance (VOUS)VALIDATED
 2012-10-01
exon 2c.408G>Ap.(=)Likely benignVALIDATED
 2012-10-01
exon 2c.414A>Gp.(=)BenignVALIDATED
 2001-12-11
exon 2c.422G>Tp.Ser141IleLikely benignPROVISIONAL
 2005-04-19
exon 2c.428G>Cp.Arg143ProLikely benignPROVISIONAL
 2008-02-25
exon 2c.441dupCp.Glu148Argfs*94Not classifiedNot classified
 2017-07-13
exon 2c.442G>Cp.Glu148GlnUncertain significance (VOUS)VALIDATED
2001-12-11
exon 2c.443A>Tp.Glu148ValUncertain significance (VOUS)VALIDATED
 2001-12-11
exon 2c.444G>Cp.Glu148AspUncertain significance (VOUS)PROVISIONAL
 2015-03-26
exon 2c.450G>Ap.(=)Likely benignVALIDATED
 2011-06-07
exon 2c.453G>Cp.Arg151SerUncertain significance (VOUS)VALIDATED
 2008-01-14
exon 2c.460T>Cp.Ser154ProUncertain significance (VOUS)VALIDATED
 2013-02-28
exon 2c.464G>Cp.Arg155ThrUncertain significance (VOUS)VALIDATED
 2014-04-30
exon 2c.476G>Ap.Ser159AsnLikely benignPROVISIONAL
 2012-10-02
exon 2c.488A>Cp.Glu163AlaUncertain significance (VOUS)VALIDATED
 2002-06-18
exon 2c.489G>Tp.Glu163AspUnsolvedUNSOLVED
 2011-08-25
exon 2c.493G>Ap.Ala165ThrUncertain significance (VOUS)PROVISIONAL
 2012-10-02
exon 2c.495C>Ap.(=)BenignVALIDATED
 2001-12-11
exon 2c.497C>Tp.Ser166LeuUncertain significance (VOUS)PROVISIONAL
 2010-10-13
exon 2c.498G>Cp.(=)Likely benignVALIDATED
 2012-10-02
exon 2c.501G>Cp.Glu167AspLikely pathogenicPROVISIONAL
2001-12-11
exon 2c.505C>Gp.Leu169ValLikely benignPROVISIONAL
 2012-10-02
exon 2c.515A>Cp.Gln172ProUncertain significance (VOUS)VALIDATED
 2009-06-04
exon 2c.524C>Ap.Pro175HisUncertain significance (VOUS)VALIDATED
 2004-11-10
exon 2c.530C>Tp.Thr177IleLikely benignPROVISIONAL
 2005-12-02
exon 2c.536G>Tp.Ser179IleUncertain significance (VOUS)PROVISIONAL
 2004-09-01
exon 2c.536G>Ap.Ser179AsnLikely benignPROVISIONAL
2011-04-01
exon 2c.539C>Gp.Pro180ArgUncertain significance (VOUS)PROVISIONAL
 2005-08-16
exon 2c.540G>Cp.(=)Likely benignVALIDATED
 2005-08-29
exon 2c.549G>Ap.(=)Likely benignVALIDATED
 2012-09-20
exon 2c.560G>Ap.Ser187AsnNot classifiedNot classified
 2018-01-11
exon 2c.564C>Tp.Pro188ProNot classifiedNot classified
 2018-02-16
exon 2c.578C>Tp.Ala193ValUnsolvedUNSOLVED
 2012-10-02
exon 2c.581T>Cp.Leu194ProLikely benignPROVISIONAL
 2012-02-24
exon 2c.585G>Ap.(=)Likely benignVALIDATED
 2013-05-06
exon 2c.586G>Tp.Gly196TrpUncertain significance (VOUS)PROVISIONAL
 2007-06-12
exon 2c.586G>Ap.Gly196ArgUncertain significance (VOUS)PROVISIONAL
 2013-09-10
exon 2c.589G>Cp.Gly197ArgUncertain significance (VOUS)PROVISIONAL
 2011-12-13
exon 2c.605G>Ap.Arg202GlnBenignVALIDATED
 2001-12-11
exon 2c.608T>Cp.Leu203ProUncertain significance (VOUS)VALIDATED
 2012-10-01
exon 2c.617A>Gp.Asn206SerUncertain significance (VOUS)VALIDATED
 2012-10-02
exon 2c.618C>Gp.Asn206LysUncertain significance (VOUS)PROVISIONAL
 2013-04-18
exon 2c.606_621dupp.Ser208Alafs*39Likely pathogenicPROVISIONAL
 2007-06-20
exon 2c.622A>Tp.Ser208CysUncertain significance (VOUS)PROVISIONAL
 2012-07-03
exon 2c.627C>Tp.(=)Likely benignVALIDATED
 2010-09-29
exon 2c.633G>Ap.(=)Likely benignVALIDATED
 2012-07-13
exon 2c.653G>Cp.Gly218AlaUncertain significance (VOUS)VALIDATED
 2012-10-02
exon 2c.657C>Tp.(=)Likely benignVALIDATED
 2007-08-10
exon 2c.663G>Cp.(=)Likely benignVALIDATED
 2006-04-27
exon 2c.664G>Ap.Gly222ArgUncertain significance (VOUS)PROVISIONAL
 2012-10-02
exon 2c.674A>Gp.Glu225GlyUncertain significance (VOUS)VALIDATED
 2011-09-01
exon 2c.675G>Cp.Glu225AspUnsolvedUNSOLVED
 2007-07-03
exon 2c.688G>Ap.Glu230LysUncertain significance (VOUS)VALIDATED
 2001-12-11
exon 2c.688G>Cp.Glu230GlnLikely benignPROVISIONAL
 2013-06-29
exon 2c.694T>Cp.Tyr232HisLikely benignPROVISIONAL
 2009-02-10
exon 2c.698_700dupTGCp.Leu233dupNot classifiedNot classified
 2016-12-21
exon 2c.702C>Tp.(=)Likely benignVALIDATED
 2012-10-01
exon 2c.707G>Tp.Gly236ValUnsolvedUNSOLVED
 2006-02-23
exon 2c.714G>Tp.Met238IleUncertain significance (VOUS)PROVISIONAL
 2014-10-07
exon 2c.717A>Tp.(=)Likely benignVALIDATED
 2012-10-02
exon 2c.722G>Ap.Arg241LysLikely benignPROVISIONAL
 2011-03-25
exon 2c.726C>Tp.(=)Likely benignVALIDATED
 2004-11-26
exon 2c.726C>Gp.Ser242ArgLikely pathogenicVALIDATED
 2007-05-17
exon 2c.726C>Ap.Ser242ArgLikely pathogenicVALIDATED
 2008-09-12
exon 2c.739A>Gp.Ile247ValLikely benignPROVISIONAL
 2011-03-15
exon 2c.751G>Ap.Glu251LysUncertain significance (VOUS)VALIDATED
 2002-12-20
exon 2c.761_764dupCCGCp.Asn256Argfs*70Likely pathogenicPROVISIONAL
 2005-08-29
exon 2c.775A>Gp.Ile259ValLikely benignPROVISIONAL
 2005-12-29
exon 2c.796A>Gp.Lys266GluLikely benignPROVISIONAL
 2013-11-06
exon 2c.800C>Tp.Thr267IleLikely pathogenicVALIDATED
 2001-12-11
exon 2c.803C>Tp.Ala268ValLikely benignPROVISIONAL
 2004-08-19
exon 2c.808A>Gp.Asn270AspLikely benignPROVISIONAL
 2013-09-10
exon 2c.818C>Tp.Ser273LeuLikely benignPROVISIONAL
 2014-03-11
exon 2c.829C>Ap.Pro277ThrLikely benignPROVISIONAL
 2011-04-14
exon 2c.833G>Cp.Arg278ProLikely benignPROVISIONAL
 2008-01-21
exon 2c.848C>Gp.Pro283ArgUncertain significance (VOUS)VALIDATED
 2003-12-09
exon 2c.848C>Tp.Pro283LeuUncertain significance (VOUS)VALIDATED
 2005-05-23
exon 2c.863C>Ap.Ser288TyrUncertain significance (VOUS)VALIDATED
 2013-06-29
exon 2c.866C>Tp.Ala289ValUncertain significance (VOUS)PROVISIONAL
 2005-06-07
exon 2c.866C>Ap.Ala289GluUncertain significance (VOUS)VALIDATED
 2013-06-28
exon 2c.896A>Gp.Glu299GlyLikely benignPROVISIONAL
 2006-10-17
exon 2c.910G>Ap.Gly304ArgLikely benignVALIDATED
 2002-12-20
intron 2c.910+29C>T-Likely benignVALIDATED
 2008-01-21
intron 2c.911-78T>C-Likely benignVALIDATED
 2007-01-06
intron 2c.911-22T>G-Likely benignVALIDATED
 2008-01-23
intron 2c.911-12G>A-Likely benignVALIDATED
 2017-09-05
exon 3c.921A>Gp.(=)Likely benignVALIDATED
 2013-05-06
exon 3c.926C>Tp.Thr309MetUncertain significance (VOUS)PROVISIONAL
 2006-01-18
exon 3c.940C>Tp.Arg314CysUncertain significance (VOUS)PROVISIONAL
 2011-04-14
exon 3c.941G>Ap.Arg314HisUnsolvedUNSOLVED
 2008-12-23
exon 3c.942C>Tp.(=)BenignVALIDATED
 2001-12-11
exon 3c.949G>Ap.Ala317ThrLikely benignPROVISIONAL
 2010-08-26
exon 3c.955G>Ap.Glu319LysUnsolvedUNSOLVED
 2002-10-21
exon 3c.983T>Cp.Val328AlaUnsolvedUNSOLVED
 2008-12-11
exon 3c.986G>Ap.Arg329HisLikely benignVALIDATED
 2002-12-20
exon 3c.1012G>Cp.Val338LeuUncertain significance (VOUS)PROVISIONAL
 2014-02-20
exon 3c.1016C>Tp.Ser339PheUnsolvedUNSOLVED
 2006-01-23
exon 3c.1043G>Ap.Arg348HisUnsolvedUNSOLVED
 2008-10-12
exon 3c.1048C>Tp.Pro350SerUncertain significance (VOUS)VALIDATED
 2015-01-06
exon 3c.1049C>Gp.Pro350ArgUncertain significance (VOUS)VALIDATED
 2010-03-18
exon 3c.1056C>Tp.(=)Likely benignVALIDATED
 2006-07-17
exon 3c.1057C>Gp.Pro353AlaNot classifiedNot classified
 2017-10-30
exon 3c.1060C>Tp.Arg354TrpLikely pathogenicPROVISIONAL
 2003-09-08
exon 3c.1082G>Cp.Arg361ThrUncertain significance (VOUS)PROVISIONAL
 2014-11-18
exon 3c.1088G>Ap.Ser363AsnUncertain significance (VOUS)PROVISIONAL
 2014-02-25
exon 3c.1089C>Tp.(=)Likely benignVALIDATED
 2007-01-06
exon 3c.1091C>Tp.Pro364LeuUncertain significance (VOUS)PROVISIONAL
 2009-10-19
exon 3c.1092G>Tp.Pro364ProLikely benignVALIDATED
 2017-09-05
exon 3c.1099C>Gp.Leu367ValNot classifiedNot classified
 2017-01-25
exon 3c.1105C>Tp.Pro369SerUncertain significance (VOUS)VALIDATED
2001-12-11
exon 3c.1115T>Cp.Leu372ProLikely pathogenicPROVISIONAL
 2013-07-15
exon 3c.1118C>T p.Pro373LeuUncertain significance (VOUS)VALIDATED
 2013-09-10
exon 3c.1127A>Gp.Lys376ArgLikely benignPROVISIONAL
 2013-02-05
exon 3c.1147C>Ap.Gln383LysUncertain significance (VOUS)VALIDATED
 2008-01-21
exon 3c.1151T>Cp.Leu384ProLikely pathogenicPROVISIONAL
 2013-05-06
exon 3c.1166A>Tp.Asp389ValLikely pathogenicPROVISIONAL
 2015-06-02
exon 3c.1171G>Ap.Asp391AsnLikely benignPROVISIONAL
 2013-05-06
exon 3c.1179C>Tp.(=)Likely benignVALIDATED
 2001-12-11
exon 3c.1207G>Ap.Glu403LysLikely pathogenicPROVISIONAL
 2011-05-25
exon 3c.1211A>Gp.His404ArgNot classifiedNot classified
 2017-01-25
exon 3c.1223G>Ap.Arg408GlnUncertain significance (VOUS)PROVISIONAL
2001-12-11
exon 3c.1229G>Ap.Arg410HisNot classifiedNot classified
 2018-03-29
exon 3c.1245C>Tp.(=)Likely benignVALIDATED
 2008-08-05
intron 3c.1260+10C>T-Likely benignVALIDATED
 2005-08-25
intron 3c.1260+18C>G-Not classifiedNot classified
 2005-08-25
intron 3c.1260+92G>A-Likely benignVALIDATED
 2009-04-14
intron 3c.1261-28A>G-Likely benignVALIDATED
 2005-09-01
intron 3c.1261-11T>G-Likely benignVALIDATED
 2007-01-06
exon 4c.1267A>Gp.Ile423ValUncertain significance (VOUS)PROVISIONAL
 2005-12-29
exon 4c.1268T>Cp.Ile423ThrNot classifiedNot classified
 2018-02-12
exon 4c.1277A>Gp.Gln426ArgUncertain significance (VOUS)VALIDATED
 2012-12-07
exon 4c.1318C>Gp.Gln440GluLikely benignVALIDATED
 2007-03-28
intron 4c.1356+44A>G-Likely benignVALIDATED
 2005-12-19
intron 4c.1356+98C>T-Likely benignVALIDATED
 2011-09-09
exon 5c.1368A>Cp.Glu456AspUnsolvedUNSOLVED
 2010-03-18
exon 5c.1370C>Tp.Ala457ValLikely benignPROVISIONAL
 2006-01-03
exon 5c.1371G>Ap.Ala457AlaLikely benignVALIDATED
 2017-09-05
exon 5c.1404G>Ap.(=)UnsolvedUNSOLVED
 2013-05-06
exon 5c.1405G>Tp.Val469LeuLikely benignPROVISIONAL
 2007-03-02
exon 5c.1413C>Ap.Tyr471*Likely pathogenicPROVISIONAL
 2009-03-30
exon 5c.1420G>Ap.Glu474LysUncertain significance (VOUS)VALIDATED
 2002-02-15
exon 5c.1422G>Ap.(=)BenignVALIDATED
 2001-12-11
exon 5c.1428A>Gp.(=)BenignVALIDATED
 2001-12-11
exon 5c.1432C>Tp.His478TyrUncertain significance (VOUS)VALIDATED
 2002-06-18
exon 5c.1437C>Gp.Phe479LeuLikely pathogenicVALIDATED
2001-12-11
exon 5c.1459G>Ap.Val487MetUncertain significance (VOUS)PROVISIONAL
 2002-01-17
exon 5c.1459G>Cp.Val487LeuUnsolvedUNSOLVED
 2017-08-21
exon 5c.1467G>Ap.(=)Likely benignVALIDATED
 2005-07-26
exon 5c.1501C>Gp.Arg501GlyUncertain significance (VOUS)PROVISIONAL
 2002-01-17
exon 5c.1501C>Tp.Arg501CysLikely pathogenicPROVISIONAL
 2011-04-01
exon 5c.1502G>Ap.Arg501HisLikely benignVALIDATED
 2008-09-04
exon 5c.1503C>Tp.(=)Likely benignVALIDATED
 2001-12-24
exon 5c.1508C>Gp.Ser503CysLikely pathogenicVALIDATED
 2010-03-18
exon 5c.1514A>Gp.Asp505GlyUncertain significance (VOUS)VALIDATED
 2013-05-06
exon 5c.1516A>Gp.Ile506ValLikely benignVALIDATED
 2008-01-14
exon 5c.1518C>Tp.(=)Likely benignVALIDATED
 2001-12-24
exon 5c.1528G>Ap.Asp510AsnUncertain significance (VOUS)VALIDATED
 2014-10-21
exon 5c.1530T>Cp.(=)BenignVALIDATED
 2001-12-22
exon 5c.1532C>Tp.Ala511ValUncertain significance (VOUS)PROVISIONAL
 2010-07-06
exon 5c.1532C>Ap.Ala511GluUncertain significance (VOUS)VALIDATED
 2015-08-11
exon 5c.1538T>Cp.Ile513ThrUnsolvedUNSOLVED
 2008-10-12
exon 5c.1541G>Ap.Gly514GluUncertain significance (VOUS)PROVISIONAL
 2006-10-17
exon 5c.1559A>Tp.Glu520ValNot classifiedNot classified
 2017-11-14
intron 5c.1587+18C>T-Likely benignVALIDATED
 2006-05-29
intron 5c.1587+29G>T-Likely benignVALIDATED
 2009-03-11
intron 5c.1587+33C>G-Likely benignVALIDATED
 2004-09-20
intron 5c.1588-69G>A-Likely benignVALIDATED
 2008-01-23
intron 5c.1588-17C>G-Likely benignVALIDATED
 2017-09-05
intron 6c.1610+47A>T-Likely benignVALIDATED
 2008-01-21
intron 6c.1610+96C>T-Likely benignVALIDATED
 2006-05-09
exon 7c.1648C>Gp.Pro550AlaUncertain significance (VOUS)PROVISIONAL
 2012-07-23
exon 7c.1656G>Cp.Glu552AspUncertain significance (VOUS)PROVISIONAL
 2017-08-16
exon 7c.1675C>Tp.Leu559PheUnsolvedUNSOLVED
 2003-01-13
intron 7c.1727-58T>C-Likely benignVALIDATED
 2006-02-07
exon 8c.1729A>Tp.Thr577SerLikely pathogenicPROVISIONAL
 2008-03-03
exon 8c.1729A>Gp.Thr577AlaLikely pathogenicPROVISIONAL
 2013-05-04
exon 8c.1730C>Ap.Thr577AsnLikely pathogenicVALIDATED
 2013-05-04
exon 8c.1730C>Gp.Thr577SerLikely pathogenicVALIDATED
 2013-05-04
exon 8c.1744A>Cp.Met582LeuLikely benignPROVISIONAL
 2006-07-17
intron 8c.1759+8C>T-Likely benignVALIDATED
 2003-12-11
intron 8c.1759+76_1759+77insC-UnsolvedUNSOLVED
 2017-09-05
intron 8c.1760-30T>A-Likely benignVALIDATED
 2006-03-17
intron 8c.1760-28T>A-Likely benignVALIDATED
 2007-01-06
intron 8c.1760-5C>T-Likely benignVALIDATED
 2013-05-06
intron 8c.1760-4G>A-Likely benignVALIDATED
 2005-09-01
exon 9c.1764G>Ap.(=)BenignVALIDATED
 2001-12-22
exon 9c.1772T>Cp.Ile591ThrUncertain significance (VOUS)PROVISIONAL
 2001-12-22
exon 9c.1776C>Tp.(=)Likely benignVALIDATED
 2006-04-06
exon 9c.1784C>Tp.Ala595ValUncertain significance (VOUS)PROVISIONAL
 2008-02-25
exon 9c.1792G>Ap. Val598IleNot classifiedNot classified
 2018-03-29
intron 9c.1792+8C>T-UnsolvedUNSOLVED
 2017-09-05
intron 9c.1792+39G>A-Likely benignVALIDATED
 2007-03-15
intron 9c.1792+57C>T-Likely benignVALIDATED
 2005-12-29
intron 9c.1793-14A>G-Likely benignVALIDATED
 2005-09-01
exon 10c.1795A>Gp.Asn599AspUncertain significance (VOUS)VALIDATED
 2009-06-04
exon 10c.1806G>Tp.(=)Likely benignVALIDATED
 2009-08-21
exon 10c.1818C>Tp.(=)Likely benignVALIDATED
 2009-08-04
exon 10c.1827C>Gp.(=)Likely benignVALIDATED
 2005-08-25
exon 10c.1876T>Ap.Trp626ArgNot classifiedNot classified
 2017-10-06
exon 10c.1883G>Ap.Arg628Lys Likely benignPROVISIONAL
 2012-08-27
exon 10c.1886dupp.Pro630Alafs*2Uncertain significance (VOUS)PROVISIONAL
 2015-02-06
exon 10c.1894G>Ap.Gly632SerUnsolvedUNSOLVED
 2004-12-22
exon 10c.1895G>Cp.Gly632AlaLikely benignPROVISIONAL
 2010-06-29
exon 10c.1910A>Gp.Asp637GlyUnsolvedUNSOLVED
 2013-06-28
exon 10c.1920C>Gp.Ile640MetUncertain significance (VOUS)VALIDATED
2003-08-01
exon 10c.1921A>Tp.Ile641PheUncertain significance (VOUS)PROVISIONAL
 2005-12-29
exon 10c.1937C>Tp.Pro646LeuUncertain significance (VOUS)PROVISIONAL
 2002-08-22
exon 10c.1938G>Ap.(=)Likely benignVALIDATED
 2006-03-17
exon 10c.1946T>Cp.Leu649ProUncertain significance (VOUS)PROVISIONAL
 2002-08-22
exon 10c.1949C>Ap.Ser650TyrLikely pathogenicVALIDATED
 2013-06-29
exon 10c.1954C>Tp.Arg652CysUncertain significance (VOUS)VALIDATED
 2013-03-25
exon 10c.1955G>Ap.Arg652HisUncertain significance (VOUS)PROVISIONAL
 2012-07-23
exon 10c.1956C>Ap.(=)Likely benignVALIDATED
 2001-12-22
exon 10c.1958G>Ap.Arg653HisUncertain significance (VOUS)PROVISIONAL
2001-12-22
exon 10c.1967A>Cp.Glu656AlaLikely pathogenicVALIDATED
 2001-12-22
exon 10c.1975G>Tp.Val659PheLikely pathogenicPROVISIONAL
 2009-06-12
exon 10c.1981G>Ap.Asp661AsnUnsolvedUNSOLVED
 2003-12-11
exon 10c.1996A>Gp.Ile666ValLikely benignPROVISIONAL
 2013-06-29
exon 10c.2012A>Tp.Lys671MetUnsolvedUNSOLVED
 2012-12-07
exon 10c.2024G>Ap.Ser675AsnLikely benignPROVISIONAL
 2001-12-22
exon 10c.2033G>Ap.Gly678GluUncertain significance (VOUS)PROVISIONAL
 2001-12-22
exon 10c.2035A>Cp.Asn679HisNot classifiedNot classified
 2017-11-22
exon 10c.2038A>Cp.Met680LeuLikely pathogenicVALIDATED
 2001-12-22
exon 10c.2038A>Gp.Met680ValLikely pathogenicVALIDATED
 2011-05-25
exon 10c.2040G>Cp.Met680IlePathogenicVALIDATED
2001-12-11
exon 10c.2040G>Ap.Met680IlePathogenicVALIDATED
 2001-12-11
exon 10c.2042C>Tp.Thr681IleUncertain significance (VOUS)PROVISIONAL
 2001-12-22
exon 10c.2049G>Ap.(=)Likely benignVALIDATED
 2001-12-24
exon 10c.2053G>Ap.Glu685LysUncertain significance (VOUS)VALIDATED
 2014-11-25
exon 10c.2060G>Ap.Gly687AspLikely pathogenicPROVISIONAL
 2013-06-26
exon 10c.2063A>Gp.Tyr688CysLikely pathogenicVALIDATED
 2004-02-05
exon 10c.2063A>Tp.Tyr688PheLikely pathogenicVALIDATED
 2011-12-19
exon 10c.2064C>Gp.Tyr688*Likely pathogenicVALIDATED
 2001-12-24
exon 10c.2068G>Cp.Val690LeuLikely benignPROVISIONAL
 2015-09-08
exon 10c.2076_2078delp.Ile692delLikely pathogenicVALIDATED
2001-12-24
exon 10c.2078T>Ap.Met693LysNot classifiedNot classified
 2018-03-05
exon 10c.2079G>Cp.Met693IleUnsolvedUNSOLVED
 2009-11-14
exon 10c.2080A>Gp.Met694ValPathogenicVALIDATED
2001-12-11
exon 10c.2080A>Tp.Met694LeuLikely pathogenicVALIDATED
 2002-12-20
exon 10c.2081_2083delp.Met694delLikely pathogenicVALIDATED
 2001-12-22
exon 10c.2081T>Ap.Met694LysLikely pathogenicVALIDATED
 2012-10-12
exon 10c.2082G>Ap.Met694IlePathogenicVALIDATED
2001-12-11
exon 10c.2084A>Gp.Lys695ArgLikely pathogenicVALIDATED
 2001-12-24
exon 10c.2084A>Tp.Lys695MetUnsolvedUNSOLVED
 2005-04-08
exon 10c.2085G>Cp.Lys695AsnLikely pathogenicPROVISIONAL
 2009-03-30
exon 10c.2094G>Tp.Glu698AspUncertain significance (VOUS)VALIDATED
 2014-10-03
exon 10c.2103G>Ap.(=)Likely benignVALIDATED
 2001-12-24
exon 10c.2105C>Gp.Ser702CysUncertain significance (VOUS)VALIDATED
 2006-07-17
exon 10c.2109C>Tp.(=)Likely benignVALIDATED
 2003-11-19
exon 10c.2110G>Ap.Val704IleUnsolvedUNSOLVED
 2001-12-24
exon 10c.2113C>Tp.Pro705SerUnsolvedUNSOLVED
 2005-12-29
exon 10c.2118G>Ap.(=)Likely benignVALIDATED
 2001-12-24
exon 10c.2122C>Tp.Arg708CysUncertain significance (VOUS)PROVISIONAL
 2008-11-14
exon 10c.2126T>Gp.Leu709ArgUnsolvedUNSOLVED
 2008-01-14
exon 10c.2149C>Ap.Arg717SerUnsolvedUNSOLVED
 2008-02-25
exon 10c.2150G>Ap.Arg717HisUncertain significance (VOUS)PROVISIONAL
 2011-08-06
exon 10c.2150G>Tp.Arg717LeuUncertain significance (VOUS)PROVISIONAL
 2011-09-01
exon 10c.2160C>Gp.Ile720MetUncertain significance (VOUS)VALIDATED
 2002-01-29
exon 10c.2163C>Tp.(=)Likely benignVALIDATED
 2001-12-24
exon 10c.2164G>Ap.Val722MetUncertain significance (VOUS)VALIDATED
 2008-11-06
exon 10c.2169C>Tp.(=)Likely benignVALIDATED
 2003-09-08
exon 10c.2177T>Cp.Val726AlaPathogenicVALIDATED
2001-12-11
exon 10c.2185A>Gp.Ile729ValUncertain significance (VOUS)VALIDATED
 2013-02-15
exon 10c.2189C>Gp.Ser730CysUnsolvedUNSOLVED
 2011-05-17
exon 10c.2198A>Gp.Asn733SerUnsolvedUNSOLVED
 2013-06-11
exon 10c.2210G>Ap.Arg737LysLikely benignPROVISIONAL
 2011-08-01
exon 10c.2228T>Ap.Phe743TyrLikely pathogenicPROVISIONAL
 2009-12-09
exon 10c.2229C>Gp.Phe743LeuUnsolvedUNSOLVED
 2006-01-03
exon 10c.2229C>Tp.(=)Likely benignVALIDATED
 2006-01-23
exon 10c.2230G>Tp.Ala744SerUncertain significance (VOUS)VALIDATED
2001-12-24
exon 10c.2230G>Ap.Ala744ThrUnsolvedUNSOLVED
 2014-02-25
exon 10c.2246C>Gp.Ser749CysUncertain significance (VOUS)PROVISIONAL
 2007-01-08
exon 10c.2259A>Gp.(=)Likely benignVALIDATED
 2007-03-15
exon 10c.2259A>Tp.Gln753HisLikely pathogenicPROVISIONAL
 2011-12-13
exon 10c.2261C>Gp.Pro754ArgUnsolvedUNSOLVED
 2011-08-01
exon 10c.2263A>Gp.Ile755ValUncertain significance (VOUS)PROVISIONAL
 2008-08-05
exon 10c.2272C>Tp.Pro758SerUnsolvedUNSOLVED
 2003-04-10
exon 10c.2281C>Tp.Arg761CysLikely pathogenicVALIDATED
 2013-11-05
exon 10c.2282G>Ap.Arg761HisLikely pathogenicVALIDATED
2001-12-24
exon 10c.2292G>Tp.(=)Likely benignVALIDATED
 2011-09-09
exon 10c.2296A>Cp.Asn766HisLikely pathogenicVALIDATED
 2013-05-06
exon 10c.2305C>Gp.Pro769AlaLikely pathogenicPROVISIONAL
 2013-06-29
exon 10c.2314A>Gp.Ile772ValLikely benignPROVISIONAL
 2006-06-15
exon 10c.2330dupGp.Gln778Serfs*4Likely pathogenicPROVISIONAL
 2013-05-08
exon 10c.2333A>Tp.Gln778LeuUncertain significance (VOUS)PROVISIONAL
 2011-08-01
exon 10c.2337G>Cp.(=)Likely benignVALIDATED
 2006-01-04
exon 10c.2338C>Ap.Pro780ThrLikely benignPROVISIONAL
 2006-01-11
3UTc.*9C>T-UnsolvedUNSOLVED
 2006-01-05
3UTc.*12T>C-Likely benignVALIDATED
 2007-12-28
3UTc.*21C>G-Likely benignVALIDATED
 2008-10-23
3UTc.*133G>A-Likely benignVALIDATED
 2016-04-07
3UTc.*245G>A-Likely benignVALIDATED
 2016-04-07
3UTc.*267G>A-Likely benignVALIDATED
 2016-04-07