MEFV (NM_000243.2) sequence variants

Editor(s): Isabelle TOUITOU   

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Total current number of sequence variants for MEFV : 349

*This classification is proposed by the INSAID study group. Ref. 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
5 flankingc.-979T>C-Not classifiedTo be validated
 2014-03-10
5 flankingc.-888G>A-Not classifiedTo be validated
 2010-04-16
5 flankingc.-792C>T-Not classifiedTo be validated
 2007-01-08
5 flankingc.-751A>G-Not classifiedTo be validated
 2007-01-08
5 flankingc.-740C>T-Not classifiedTo be validated
 2007-01-08
5 flankingc.-614C>G-Not classifiedTo be validated
 2007-01-08
5 flankingc.-382C>G-Not classifiedTo be validated
 2007-01-08
5 flankingc.-330G>A-Not classifiedTo be validated
 2007-01-08
5 flankingc.-170G>A-Not classifiedTo be validated
 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.(Thr12Ile)UnsolvedUNSOLVED
 2013-05-06
exon 1c.56A>Gp.(Tyr19Cys)UnsolvedUNSOLVED
 2013-05-06
exon 1c.74A>Gp.(Lys25Arg)Likely pathogenicPROVISIONAL
 2013-05-06
exon 1c.82C>Gp.(Leu28Val)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 1c.104A>Gp.(Lys35Arg)Not classifiedTo be validated
 2019-05-13
exon 1c.115A>Gp.(Arg39Gly)Likely pathogenicPROVISIONAL
 2013-05-06
exon 1c.124C>Tp.(Arg42Trp)UnsolvedUNSOLVED
 2001-12-11
exon 1c.171G>Ap.(=)Likely benignVALIDATED
 2014-03-11
exon 1c.184G>Tp.(Gly62Trp)Not classifiedTo be validated
 2017-11-23
exon 1c.195C>Tp.(=)Likely benignVALIDATED
 2001-12-11
exon 1c.250G>Ap.(Glu84Lys)Likely pathogenicPROVISIONAL
 2010-04-23
exon 1c.265G>Ap.(Ala89Thr)Likely pathogenicPROVISIONAL
 2004-09-01
exon 2c.289C>Ap.(Gln97Lys)Uncertain significance (VOUS)VALIDATED
 2011-01-04
exon 2c.289C>Tp.(Gln97*)Likely pathogenicVALIDATED
 2013-05-06
exon 2c.290A>Gp.(Gln97Arg)Uncertain 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.(Ala105Glu)Uncertain significance (VOUS)VALIDATED
 2013-06-28
exon 2c.322A>Cp.(Ser108Arg)Uncertain significance (VOUS)VALIDATED
 2002-02-12
exon 2c.322A>Gp.(Ser108Gly )Uncertain significance (VOUS)VALIDATED
 2017-08-18
exon 2c.329T>Cp.(Leu110Pro)Uncertain significance (VOUS)VALIDATED
2001-12-11
exon 2c.330G>Ap.(=)Likely benignVALIDATED
 2007-05-17
exon 2c.331G>Ap.(Gly111Arg)Uncertain significance (VOUS)VALIDATED
 2012-10-01
exon 2c.332G>Ap.(Gly111Glu)Uncertain significance (VOUS)VALIDATED
 2011-09-05
exon 2c.333G>Ap.(=)Likely benignVALIDATED
 2007-02-07
exon 2c.334_335insGp.(Glu112Glyfs*130)UnsolvedUNSOLVED
 2002-10-15
exon 2c.343C>Ap.(Pro115Thr)Likely benignPROVISIONAL
 2014-01-20
exon 2c.359C>Tp.(Thr120Ile)Likely benignVALIDATED
 2013-08-22
exon 2c.369C>Ap.(His123Gln)Uncertain 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_Asn130del)Likely pathogenicPROVISIONAL
 2016-01-21
exon 2c.382_390dupp.(Glu128_Asn130dup)Likely pathogenicPROVISIONAL
 2004-02-05
exon 2c.390C>Tp.(=)Likely benignVALIDATED
 2014-09-24
exon 2c.406G>Ap.(Gly136Arg)Uncertain significance (VOUS)VALIDATED
 2007-08-22
exon 2c.406G>Tp.(Gly136Trp)Uncertain 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.(Ser141Ile)Likely benignPROVISIONAL
 2005-04-19
exon 2c.428G>Cp.(Arg143Pro)Likely benignPROVISIONAL
 2008-02-25
exon 2c.441dupCp.(Glu148Argfs*94)Not classifiedTo be validated
 2017-07-13
exon 2c.442G>Cp.(Glu148Gln)Uncertain significance (VOUS)VALIDATED
2001-12-11
exon 2c.443A>Tp.(Glu148Val)Uncertain significance (VOUS)VALIDATED
 2001-12-11
exon 2c.444G>Cp.(Glu148Asp)Uncertain significance (VOUS)PROVISIONAL
 2015-03-26
exon 2c.450G>Ap.(=)Likely benignVALIDATED
 2011-06-07
exon 2c.453G>Cp.(Arg151Ser)Uncertain significance (VOUS)VALIDATED
 2008-01-14
exon 2c.460T>Cp.(Ser154Pro)Uncertain significance (VOUS)VALIDATED
 2013-02-28
exon 2c.464G>Cp.(Arg155Thr)Uncertain significance (VOUS)VALIDATED
 2014-04-30
exon 2c.476G>Ap.(Ser159Asn)Likely benignPROVISIONAL
 2012-10-02
exon 2c.488A>Cp.(Glu163Ala)Uncertain significance (VOUS)VALIDATED
 2002-06-18
exon 2c.489G>Tp.(Glu163Asp)UnsolvedUNSOLVED
 2011-08-25
exon 2c.493G>Ap.(Ala165Thr)Uncertain significance (VOUS)PROVISIONAL
 2012-10-02
exon 2c.495C>Ap.(=)BenignVALIDATED
 2001-12-11
exon 2c.497C>Tp.(Ser166Leu)Uncertain significance (VOUS)PROVISIONAL
 2010-10-13
exon 2c.498G>Cp.(=)Likely benignVALIDATED
 2012-10-02
exon 2c.501G>Cp.(Glu167Asp)Likely pathogenicPROVISIONAL
2001-12-11
exon 2c.505C>Gp.(Leu169Val)Likely benignPROVISIONAL
 2012-10-02
exon 2c.515A>Cp.(Gln172Pro)Uncertain significance (VOUS)VALIDATED
 2009-06-04
exon 2c.524C>Ap.(Pro175His)Uncertain significance (VOUS)VALIDATED
 2004-11-10
exon 2c.530C>Tp.(Thr177Ile)Likely benignPROVISIONAL
 2005-12-02
exon 2c.536G>Tp.(Ser179Ile)Uncertain significance (VOUS)PROVISIONAL
 2004-09-01
exon 2c.536G>Ap.(Ser179Asn)Likely benignPROVISIONAL
2011-04-01
exon 2c.539C>Gp.(Pro180Arg)Uncertain 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)Not classifiedTo be validated
 2018-01-11
exon 2c.564C>Tp.(Pro188Pro)Not classifiedTo be validated
 2018-02-16
exon 2c.578C>Tp.(Ala193Val)UnsolvedUNSOLVED
 2012-10-02
exon 2c.581T>Cp.(Leu194Pro)Likely benignPROVISIONAL
 2012-02-24
exon 2c.585G>Ap.(=)Likely benignVALIDATED
 2013-05-06
exon 2c.586G>Tp.(Gly196Trp)Uncertain significance (VOUS)PROVISIONAL
 2007-06-12
exon 2c.586G>Ap.(Gly196Arg)Uncertain significance (VOUS)PROVISIONAL
 2013-09-10
exon 2c.589G>Cp.(Gly197Arg)Uncertain significance (VOUS)PROVISIONAL
 2011-12-13
exon 2c.605G>Ap.(Arg202Gln)BenignVALIDATED
 2001-12-11
exon 2c.608T>Cp.(Leu203Pro)Uncertain significance (VOUS)VALIDATED
 2012-10-01
exon 2c.617A>Gp.(Asn206Ser)Uncertain significance (VOUS)VALIDATED
 2012-10-02
exon 2c.618C>Gp.(Asn206Lys)Uncertain significance (VOUS)PROVISIONAL
 2013-04-18
exon 2c.606_621dupp.(Ser208Alafs*39)Likely pathogenicPROVISIONAL
 2007-06-20
exon 2c.622A>Tp.(Ser208Cys)Uncertain significance (VOUS)PROVISIONAL
 2012-07-03
exon 2c.623G>Cp.(Ser208Thr)Likely pathogenicTo be validated
 2019-03-15
exon 2c.627C>Tp.(=)Likely benignVALIDATED
 2010-09-29
exon 2c.633G>Ap.(=)Likely benignVALIDATED
 2012-07-13
exon 2c.653G>Cp.(Gly218Ala)Uncertain 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.(Gly222Arg)Uncertain significance (VOUS)PROVISIONAL
 2012-10-02
exon 2c.674A>Gp.(Glu225Gly)Uncertain significance (VOUS)VALIDATED
 2011-09-01
exon 2c.675G>Cp.(Glu225Asp)UnsolvedUNSOLVED
 2007-07-03
exon 2c.688G>Ap.(Glu230Lys)Uncertain significance (VOUS)VALIDATED
 2001-12-11
exon 2c.688G>Cp.(Glu230Gln)Likely benignPROVISIONAL
 2013-06-29
exon 2c.694T>Cp.(Tyr232His)Likely benignPROVISIONAL
 2009-02-10
exon 2c.698_700dupTGCp.(Leu233dup)Not classifiedTo be validated
 2016-12-21
exon 2c.702C>Tp.(=)Likely benignVALIDATED
 2012-10-01
exon 2c.704C>Tp.(Ser235Leu)Not classifiedTo be validated
 2019-05-13
exon 2c.707G>Tp.(Gly236Val)UnsolvedUNSOLVED
 2006-02-23
exon 2c.714G>Tp.(Met238Ile)Uncertain significance (VOUS)PROVISIONAL
 2014-10-07
exon 2c.717A>Tp.(=)Likely benignVALIDATED
 2012-10-02
exon 2c.722G>Ap.(Arg241Lys)Likely benignPROVISIONAL
 2011-03-25
exon 2c.726C>Tp.(=)Likely benignVALIDATED
 2004-11-26
exon 2c.726C>Gp.(Ser242Arg)Likely pathogenicVALIDATED
 2007-05-17
exon 2c.726C>Ap.(Ser242Arg)Likely pathogenicVALIDATED
 2008-09-12
exon 2c.730G>Ap.(Glu244Lys)Not classifiedTo be validated
 2018-07-26
exon 2c.739A>Gp.(Ile247Val)Likely benignPROVISIONAL
 2011-03-15
exon 2c.751G>Ap.(Glu251Lys)Uncertain significance (VOUS)VALIDATED
 2002-12-20
exon 2c.761_764dupCCGCp.(Asn256Argfs*70)Likely pathogenicPROVISIONAL
 2005-08-29
exon 2c.775A>Gp.(Ile259Val)Likely benignPROVISIONAL
 2005-12-29
exon 2c.796A>Gp.(Lys266Glu)Likely benignPROVISIONAL
 2013-11-06
exon 2c.800C>Tp.(Thr267Ile)Likely pathogenicVALIDATED
 2001-12-11
exon 2c.803C>Tp.(Ala268Val)Likely benignPROVISIONAL
 2004-08-19
exon 2c.808A>Gp.(Asn270Asp)Likely benignPROVISIONAL
 2013-09-10
exon 2c.818C>Tp.(Ser273Leu)Likely benignPROVISIONAL
 2014-03-11
exon 2c.829C>Ap.(Pro277Thr)Likely benignPROVISIONAL
 2011-04-14
exon 2c.833G>Cp.(Arg278Pro)Likely benignPROVISIONAL
 2008-01-21
exon 2c.848C>Gp.(Pro283Arg)Uncertain significance (VOUS)VALIDATED
 2003-12-09
exon 2c.848C>Tp.(Pro283Leu)Uncertain significance (VOUS)VALIDATED
 2005-05-23
exon 2c.863C>Ap.(Ser288Tyr)Uncertain significance (VOUS)VALIDATED
 2013-06-29
exon 2c.866C>Tp.(Ala289Val)Uncertain significance (VOUS)PROVISIONAL
 2005-06-07
exon 2c.866C>Ap.(Ala289Glu)Uncertain significance (VOUS)VALIDATED
 2013-06-28
exon 2c.896A>Gp.(Glu299Gly)Likely benignPROVISIONAL
 2006-10-17
exon 2c.910G>Ap.(Gly304Arg)Likely 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.(Thr309Met)Uncertain significance (VOUS)PROVISIONAL
 2006-01-18
exon 3c.940C>Tp.(Arg314Cys)Uncertain significance (VOUS)PROVISIONAL
 2011-04-14
exon 3c.941G>Ap.(Arg314His)UnsolvedUNSOLVED
 2008-12-23
exon 3c.942C>Tp.(=)BenignVALIDATED
 2001-12-11
exon 3c.949G>Ap.(Ala317Thr)Likely benignPROVISIONAL
 2010-08-26
exon 3c.955G>Ap.(Glu319Lys)UnsolvedUNSOLVED
 2002-10-21
exon 3c.983T>Cp.(Val328Ala)UnsolvedUNSOLVED
 2008-12-11
exon 3c.986G>Ap.(Arg329His)Likely benignVALIDATED
 2002-12-20
exon 3c.1012G>Cp.(Val338Leu)Uncertain significance (VOUS)PROVISIONAL
 2014-02-20
exon 3c.1016C>Tp.(Ser339Phe)UnsolvedUNSOLVED
 2006-01-23
exon 3c.1043G>Ap.(Arg348His)UnsolvedUNSOLVED
 2008-10-12
exon 3c.1048C>Tp.(Pro350Ser)Uncertain significance (VOUS)VALIDATED
 2015-01-06
exon 3c.1049C>Gp.(Pro350Arg)Uncertain significance (VOUS)VALIDATED
 2010-03-18
exon 3c.1056C>Tp.(=)Likely benignVALIDATED
 2006-07-17
exon 3c.1057C>Gp.(Pro353Ala)Not classifiedTo be validated
 2017-10-30
exon 3c.1060C>Tp.(Arg354Trp)Likely pathogenicPROVISIONAL
 2003-09-08
exon 3c.1082G>Cp.(Arg361Thr)Uncertain significance (VOUS)PROVISIONAL
 2014-11-18
exon 3c.1088G>Ap.(Ser363Asn)Uncertain significance (VOUS)PROVISIONAL
 2014-02-25
exon 3c.1089C>Tp.(=)Likely benignVALIDATED
 2007-01-06
exon 3c.1091C>Tp.(Pro364Leu)Uncertain significance (VOUS)PROVISIONAL
 2009-10-19
exon 3c.1092G>Tp.(Pro364Pro)Likely benignVALIDATED
 2017-09-05
exon 3c.1099C>Gp.(Leu367Val)Not classifiedTo be validated
 2017-01-25
exon 3c.1105C>Tp.(Pro369Ser)Uncertain significance (VOUS)VALIDATED
2001-12-11
exon 3c.1115T>Cp.(Leu372Pro)Likely pathogenicPROVISIONAL
 2013-07-15
exon 3c.1118C>Tp.(Pro373Leu)Uncertain significance (VOUS)VALIDATED
 2013-09-10
exon 3c.1127A>Gp.(Lys376Arg)Likely benignPROVISIONAL
 2013-02-05
exon 3c.1147C>Ap.(Gln383Lys)Uncertain significance (VOUS)VALIDATED
 2008-01-21
exon 3c.1151T>Cp.(Leu384Pro)Likely pathogenicPROVISIONAL
 2013-05-06
exon 3c.1166A>Tp.(Asp389Val)Likely pathogenicPROVISIONAL
 2015-06-02
exon 3c.1171G>Ap.(Asp391Asn)Likely benignPROVISIONAL
 2013-05-06
exon 3c.1179C>Tp.(=)Likely benignVALIDATED
 2001-12-11
exon 3c.1207G>Ap.(Glu403Lys)Likely pathogenicPROVISIONAL
 2011-05-25
exon 3c.1211A>Gp.(His404Arg)Not classifiedTo be validated
 2017-01-25
exon 3c.1223G>Ap.(Arg408Gln)Uncertain significance (VOUS)PROVISIONAL
2001-12-11
exon 3c.1229G>Ap.(Arg410His)Not classifiedTo be validated
 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 classifiedTo be validated
 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.(Ile423Val)Uncertain significance (VOUS)PROVISIONAL
 2005-12-29
exon 4c.1268T>Cp.(Ile423Thr)Not classifiedTo be validated
 2018-02-12
exon 4c.1277A>Gp.(Gln426Arg)Uncertain significance (VOUS)VALIDATED
 2012-12-07
exon 4c.1318C>Gp.(Gln440Glu)Likely benignVALIDATED
 2007-03-28
exon 4c.1324T>Ap.(Ser442Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
intron 4c.1356+44A>G-Likely benignVALIDATED
 2005-12-19
intron 4c.1356+98C>T-Likely benignVALIDATED
 2011-09-09
exon 5c.1368A>Cp.(Glu456Asp)UnsolvedUNSOLVED
 2010-03-18
exon 5c.1370C>Tp.(Ala457Val)Likely benignPROVISIONAL
 2006-01-03
exon 5c.1371G>Ap.(Ala457Ala)Likely benignVALIDATED
 2017-09-05
exon 5c.1404G>Ap.(=)UnsolvedUNSOLVED
 2013-05-06
exon 5c.1405G>Tp.(Val469Leu)Likely benignPROVISIONAL
 2007-03-02
exon 5c.1413C>Ap.(Tyr471*)Likely pathogenicPROVISIONAL
 2009-03-30
exon 5c.1420G>Ap.(Glu474Lys)Uncertain 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.(His478Tyr)Uncertain significance (VOUS)VALIDATED
 2002-06-18
exon 5c.1437C>Gp.(Phe479Leu)Likely pathogenicVALIDATED
2001-12-11
exon 5c.1450C>Ap.(Leu484Met)Not classifiedTo be validated
 2018-07-09
exon 5c.1459G>Ap.(Val487Met)Uncertain significance (VOUS)PROVISIONAL
 2002-01-17
exon 5c.1459G>Cp.(Val487Leu)UnsolvedUNSOLVED
 2017-08-21
exon 5c.1467G>Ap.(=)Likely benignVALIDATED
 2005-07-26
exon 5c.1501C>Gp.(Arg501Gly)Uncertain significance (VOUS)PROVISIONAL
 2002-01-17
exon 5c.1501C>Tp.(Arg501Cys)Likely pathogenicPROVISIONAL
 2011-04-01
exon 5c.1502G>Ap.(Arg501His)Likely benignVALIDATED
 2008-09-04
exon 5c.1503C>Tp.(=)Likely benignVALIDATED
 2001-12-24
exon 5c.1508C>Gp.(Ser503Cys)Likely pathogenicVALIDATED
 2010-03-18
exon 5c.1514A>Gp.(Asp505Gly)Uncertain significance (VOUS)VALIDATED
 2013-05-06
exon 5c.1516A>Gp.(Ile506Val)Likely benignVALIDATED
 2008-01-14
exon 5c.1518C>Tp.(=)Likely benignVALIDATED
 2001-12-24
exon 5c.1528G>Ap.(Asp510Asn)Uncertain significance (VOUS)VALIDATED
 2014-10-21
exon 5c.1530T>Cp.(=)BenignVALIDATED
 2001-12-22
exon 5c.1532C>Tp.(Ala511Val)Uncertain significance (VOUS)PROVISIONAL
 2010-07-06
exon 5c.1532C>Ap.(Ala511Glu)Uncertain significance (VOUS)VALIDATED
 2015-08-11
exon 5c.1538T>Cp.(Ile513Thr)UnsolvedUNSOLVED
 2008-10-12
exon 5c.1541G>Ap.(Gly514Glu)Uncertain significance (VOUS)PROVISIONAL
 2006-10-17
exon 5c.1559A>Tp.(Glu520Val)Not classifiedTo be validated
 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.(Pro550Ala)Uncertain significance (VOUS)PROVISIONAL
 2012-07-23
exon 7c.1656G>Cp.(Glu552Asp)Uncertain significance (VOUS)PROVISIONAL
 2017-08-16
exon 7c.1675C>Tp.(Leu559Phe)UnsolvedUNSOLVED
 2003-01-13
intron 7c.1727-58T>C-Likely benignVALIDATED
 2006-02-07
exon 8c.1729A>Tp.(Thr577Ser)Likely pathogenicPROVISIONAL
 2008-03-03
exon 8c.1729A>Gp.(Thr577Ala)Likely pathogenicPROVISIONAL
 2013-05-04
exon 8c.1730C>Ap.(Thr577Asn)Likely pathogenicVALIDATED
 2013-05-04
exon 8c.1730C>Gp.(Thr577Ser)Likely pathogenicVALIDATED
 2013-05-04
exon 8c.1744A>Cp.(Met582Leu)Likely 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.(Ile591Thr)Uncertain significance (VOUS)PROVISIONAL
 2001-12-22
exon 9c.1776C>Tp.(=)Likely benignVALIDATED
 2006-04-06
exon 9c.1784C>Tp.(Ala595Val)Uncertain significance (VOUS)PROVISIONAL
 2008-02-25
exon 9c.1792G>Ap.(Val598Ile)Not classifiedTo be validated
 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.(Asn599Asp)Uncertain 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)Not classifiedTo be validated
 2017-10-06
exon 10c.1883G>Ap.(Arg628Lys )Likely benignPROVISIONAL
 2012-08-27
exon 10c.1886dupp.(Pro630Alafs*2)Uncertain significance (VOUS)PROVISIONAL
 2015-02-06
exon 10c.1894G>Ap.(Gly632Ser)UnsolvedUNSOLVED
 2004-12-22
exon 10c.1895G>Cp.(Gly632Ala)Likely benignPROVISIONAL
 2010-06-29
exon 10c.1910A>Gp.(Asp637Gly)UnsolvedUNSOLVED
 2013-06-28
exon 10c.1920C>Gp.(Ile640Met)Uncertain significance (VOUS)VALIDATED
2003-08-01
exon 10c.1921A>Tp.(Ile641Phe)Uncertain significance (VOUS)PROVISIONAL
 2005-12-29
exon 10c.1937C>Tp.(Pro646Leu)Uncertain significance (VOUS)PROVISIONAL
 2002-08-22
exon 10c.1938G>Ap.(=)Likely benignVALIDATED
 2006-03-17
exon 10c.1946T>Cp.(Leu649Pro)Uncertain significance (VOUS)PROVISIONAL
 2002-08-22
exon 10c.1949C>Ap.(Ser650Tyr)Likely pathogenicVALIDATED
 2013-06-29
exon 10c.1954C>Tp.(Arg652Cys)Uncertain significance (VOUS)VALIDATED
 2013-03-25
exon 10c.1955G>Ap.(Arg652His)Uncertain significance (VOUS)PROVISIONAL
 2012-07-23
exon 10c.1956C>Ap.(=)Likely benignVALIDATED
 2001-12-22
exon 10c.1957C>Ap.(Arg653Ser)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 10c.1958G>Ap.(Arg653His)Uncertain significance (VOUS)PROVISIONAL
2001-12-22
exon 10c.1967A>Cp.(Glu656Ala)Likely pathogenicVALIDATED
 2001-12-22
exon 10c.1975G>Tp.(Val659Phe)Likely pathogenicPROVISIONAL
 2009-06-12
exon 10c.1981G>Ap.(Asp661Asn)UnsolvedUNSOLVED
 2003-12-11
exon 10c.1984_1985delAAp.(Lys662Aspfs*36)Likely pathogenicTo be validated
 2019-03-13
exon 10c.1996A>Gp.(Ile666Val)Likely benignPROVISIONAL
 2013-06-29
exon 10c.2012A>Tp.(Lys671Met)UnsolvedUNSOLVED
 2012-12-07
exon 10c.2024G>Ap.(Ser675Asn)Likely benignPROVISIONAL
 2001-12-22
exon 10c.2033G>Ap.(Gly678Glu)Uncertain significance (VOUS)PROVISIONAL
 2001-12-22
exon 10c.2035A>Cp.(Asn679His)Not classifiedTo be validated
 2017-11-22
exon 10c.2038A>Cp.(Met680Leu)Likely pathogenicVALIDATED
 2001-12-22
exon 10c.2038A>Gp.(Met680Val)Likely pathogenicVALIDATED
 2011-05-25
exon 10c.2040G>Cp.(Met680Ile)PathogenicVALIDATED
2001-12-11
exon 10c.2040G>Ap.(Met680Ile)PathogenicVALIDATED
 2001-12-11
exon 10c.2042C>Tp.(Thr681Ile)Uncertain significance (VOUS)PROVISIONAL
 2001-12-22
exon 10c.2049G>Ap.(=)Likely benignVALIDATED
 2001-12-24
exon 10c.2053G>Ap.(Glu685Lys)Uncertain significance (VOUS)VALIDATED
 2014-11-25
exon 10c.2060G>Ap.(Gly687Asp)Likely pathogenicPROVISIONAL
 2013-06-26
exon 10c.2063A>Gp.(Tyr688Cys)Likely pathogenicVALIDATED
 2004-02-05
exon 10c.2063A>Tp.(Tyr688Phe)Likely pathogenicVALIDATED
 2011-12-19
exon 10c.2064C>Gp.(Tyr688*)Likely pathogenicVALIDATED
 2001-12-24
exon 10c.2068G>Cp.(Val690Leu)Likely benignPROVISIONAL
 2015-09-08
exon 10c.2069T>Gp.(Val690Gly)Not classifiedTo be validated
 2019-05-13
exon 10c.2072T>Gp.(Val691Gly)Not classifiedTo be validated
 2019-05-13
exon 10c.2076_2078delp.(Ile692del)Likely pathogenicVALIDATED
2001-12-24
exon 10c.2078T>Ap.(Met693Lys)Not classifiedTo be validated
 2018-03-05
exon 10c.2079G>Cp.(Met693Ile)UnsolvedUNSOLVED
 2009-11-14
exon 10c.2080A>Gp.(Met694Val)PathogenicVALIDATED
2001-12-11
exon 10c.2080A>Tp.(Met694Leu)Likely pathogenicVALIDATED
 2002-12-20
exon 10c.2081_2083delp.(Met694del)Likely pathogenicVALIDATED
 2001-12-22
exon 10c.2081T>Ap.(Met694Lys)Likely pathogenicVALIDATED
 2012-10-12
exon 10c.2082G>Ap.(Met694Ile)PathogenicVALIDATED
2001-12-11
exon 10c.2084A>Gp.(Lys695Arg)Likely pathogenicVALIDATED
 2001-12-24
exon 10c.2084A>Tp.(Lys695Met)UnsolvedUNSOLVED
 2005-04-08
exon 10c.2085G>Cp.(Lys695Asn)Likely pathogenicPROVISIONAL
 2009-03-30
exon 10c.2094G>Tp.(Glu698Asp)Uncertain significance (VOUS)VALIDATED
 2014-10-03
exon 10c.2103G>Ap.(=)Likely benignVALIDATED
 2001-12-24
exon 10c.2105C>Gp.(Ser702Cys)Uncertain significance (VOUS)VALIDATED
 2006-07-17
exon 10c.2109C>Tp.(=)Likely benignVALIDATED
 2003-11-19
exon 10c.2110G>Ap.(Val704Ile)UnsolvedUNSOLVED
 2001-12-24
exon 10c.2113C>Tp.(Pro705Ser)UnsolvedUNSOLVED
 2005-12-29
exon 10c.2118G>Ap.(=)Likely benignVALIDATED
 2001-12-24
exon 10c.2122C>Tp.(Arg708Cys)Uncertain significance (VOUS)PROVISIONAL
 2008-11-14
exon 10c.2126T>Gp.(Leu709Arg)UnsolvedUNSOLVED
 2008-01-14
exon 10c.2149C>Ap.(Arg717Ser)UnsolvedUNSOLVED
 2008-02-25
exon 10c.2150G>Ap.(Arg717His)Uncertain significance (VOUS)PROVISIONAL
 2011-08-06
exon 10c.2150G>Tp.(Arg717Leu)Uncertain significance (VOUS)PROVISIONAL
 2011-09-01
exon 10c.2160C>Gp.(Ile720Met)Uncertain significance (VOUS)VALIDATED
 2002-01-29
exon 10c.2163C>Tp.(=)Likely benignVALIDATED
 2001-12-24
exon 10c.2164G>Ap.(Val722Met)Uncertain significance (VOUS)VALIDATED
 2008-11-06
exon 10c.2169C>Tp.(=)Likely benignVALIDATED
 2003-09-08
exon 10c.2177T>Cp.(Val726Ala)PathogenicVALIDATED
2001-12-11
exon 10c.2185A>Gp.(Ile729Val)Uncertain significance (VOUS)VALIDATED
 2013-02-15
exon 10c.2189C>Gp.(Ser730Cys)UnsolvedUNSOLVED
 2011-05-17
exon 10c.2198A>Gp.(Asn733Ser)UnsolvedUNSOLVED
 2013-06-11
exon 10c.2210G>Ap.(Arg737Lys)Likely benignPROVISIONAL
 2011-08-01
exon 10c.2228T>Ap.(Phe743Tyr)Likely pathogenicPROVISIONAL
 2009-12-09
exon 10c.2229C>Gp.(Phe743Leu)UnsolvedUNSOLVED
 2006-01-03
exon 10c.2229C>Tp.(=)Likely benignVALIDATED
 2006-01-23
exon 10c.2230G>Tp.(Ala744Ser)Uncertain significance (VOUS)VALIDATED
2001-12-24
exon 10c.2230G>Ap.(Ala744Thr)UnsolvedUNSOLVED
 2014-02-25
exon 10c.2246C>Gp.(Ser749Cys)Uncertain significance (VOUS)PROVISIONAL
 2007-01-08
exon 10c.2259A>Gp.(=)Likely benignVALIDATED
 2007-03-15
exon 10c.2259A>Tp.(Gln753His)Likely pathogenicPROVISIONAL
 2011-12-13
exon 10c.2261C>Gp.(Pro754Arg)UnsolvedUNSOLVED
 2011-08-01
exon 10c.2263A>Gp.(Ile755Val)Uncertain significance (VOUS)PROVISIONAL
 2008-08-05
exon 10c.2272C>Tp.(Pro758Ser)UnsolvedUNSOLVED
 2003-04-10
exon 10c.2281C>Tp.(Arg761Cys)Likely pathogenicVALIDATED
 2013-11-05
exon 10c.2282G>Ap.(Arg761His)Likely pathogenicVALIDATED
2001-12-24
exon 10c.2292G>Tp.(=)Likely benignVALIDATED
 2011-09-09
exon 10c.2296A>Cp.(Asn766His)Likely pathogenicVALIDATED
 2013-05-06
exon 10c.2305C>Gp.(Pro769Ala)Likely pathogenicPROVISIONAL
 2013-06-29
exon 10c.2314A>Gp.(Ile772Val)Likely benignPROVISIONAL
 2006-06-15
exon 10c.2330dupGp.(Gln778Serfs*4)Likely pathogenicPROVISIONAL
 2013-05-08
exon 10c.2333A>Tp.(Gln778Leu)Uncertain significance (VOUS)PROVISIONAL
 2011-08-01
exon 10c.2337G>Cp.(=)Likely benignVALIDATED
 2006-01-04
exon 10c.2338C>Ap.(Pro780Thr)Likely 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