MEFV (NM_000243.2) sequence variants

Editor(s): Isabelle TOUITOU   

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Total current number of sequence variants for MEFV : 340

*This classification is proposed by the INSAID study group. Ref.

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
5 flankingc.-979T>C-  
 2014-03-10
5 flankingc.-888G>A-  
 2010-04-16
5 flankingc.-792C>T-  
 2007-01-08
5 flankingc.-751A>G-  
 2007-01-08
5 flankingc.-740C>T-  
 2007-01-08
5 flankingc.-614C>G-  
 2007-01-08
5 flankingc.-382C>G-  
 2007-01-08
5 flankingc.-330G>A-  
 2007-01-08
5 flankingc.-170G>A-  
 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.Gly62Trp  
 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*94  
 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.Ser187Asn  
 2018-01-11
exon 2c.564C>Tp.Pro188Pro  
 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.Leu233dup  
 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.730G>Ap.Glu244Lys  
 2018-07-26
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.Pro353Ala  
 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.Leu367Val  
 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.His404Arg  
 2017-01-25
exon 3c.1223G>Ap.Arg408GlnUncertain significance (VOUS)PROVISIONAL
2001-12-11
exon 3c.1229G>Ap.Arg410His  
 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-  
 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.Ile423Thr  
 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.1450C>Ap.Leu484Met  
 2018-07-09
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.Glu520Val  
 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. Val598Ile  
 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.Trp626Arg  
 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.Asn679His  
 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.Met693Lys  
 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