MVK (NM_000431.2) sequence variants

Editor(s): Laurence CUISSET   

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Total current number of sequence variants for MVK : 217

*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
exon 10c.1025C>Tp.(Thr342Ile)Likely pathogenicTo be validated
 2019-02-08
exon 6c.566C>Tp.Ala189ValNot classifiedTo be validated
 2019-01-03
exon 5c.455G>Ap.Cys152TyrNot classifiedTo be validated
 2018-04-30
exon 10c.895G>A p.Asp299AsnNot classifiedTo be validated
 2018-04-03
exon 11c.1168C>T p.Gln390*Not classifiedTo be validated
 2018-04-03
exon 5c.481T>Cp.Cys161ArgNot classifiedTo be validated
 2017-11-20
intron 9c.885+117C>A-Likely benignVALIDATED
 2017-09-05
3UTc.*35C>T-Likely benignVALIDATED
 2017-09-05
intron 10c.1039+7C>T-Likely benignVALIDATED
 2017-09-05
exon 5c.441C>Tp.Ala147AlaLikely benignVALIDATED
 2017-09-05
exon 5c.500C>Tp.Pro167leu Likely pathogenicVALIDATED
 2017-08-18
exon 8c.748G>Tp.Val250Phe UnsolvedUNSOLVED
 2017-08-18
exon 2c.37A>Cp.Lys13GlnLikely pathogenicVALIDATED
 2017-08-16
exon 2c.71A>Cp.His24ProPathogenicVALIDATED
 2014-09-26
exon 3c.205T>Ap.Ser69ThrUnsolvedUNSOLVED
 2014-07-29
exon 3c.186G>Ap.Trp62*PathogenicVALIDATED
 2014-05-19
exon 10c.931G>Cp.Gly311ArgLikely pathogenicVALIDATED
 2014-04-17
exon 2c.55G>Ap.Glu19LysUnsolvedUNSOLVED
 2014-04-01
exon 9c.829C>Gp.Arg277GlyLikely pathogenicVALIDATED
 2014-03-31
exon 7c.643C>Gp.Arg215GlyUncertain significance (VOUS)PROVISIONAL
 2014-03-10
intron 7c.678-78del-Likely benignPROVISIONAL
 2014-03-03
exon 5c.380C>Tp.Pro127LeuUncertain significance (VOUS)VALIDATED
 2014-02-24
exon 5c.450G>Ap.(=)Likely benignVALIDATED
 2013-10-15
intron 4c.371+49A>G-Likely benignVALIDATED
 2013-10-01
exon 10c.1028T>Cp.Leu343ProLikely pathogenicVALIDATED
 2013-09-25
exon 2c.38_39insTCTGp.Lys13Asnfs*68Not classifiedTo be validated
 2013-08-30
exon 9c.850delp.Glu284Lysfs*17PathogenicVALIDATED
 2013-08-30
exon 11c.1116C>Gp.Ile372MetUncertain significance (VOUS)VALIDATED
 2013-08-30
exon 9c.789C>Ap.(=)Likely benignVALIDATED
 2013-08-27
exon 2c.22G>Ap.Val8MetLikely pathogenicVALIDATED
 2013-08-16
exon 2c.64G>Ap.Val22MetUnsolvedUNSOLVED
 2013-08-16
exon 3c.166A>Gp.Ile56ValUncertain significance (VOUS)VALIDATED
 2013-08-16
exon 4c.370A>Tp.Arg124TrpLikely pathogenicVALIDATED
 2013-08-16
exon 5c.425G>Ap.Gly142AspUnsolvedUNSOLVED
 2013-08-16
intron 7c.678-1G>Ap.? or p.(Arg226fs)Likely pathogenicVALIDATED
 2013-08-16
exon 8c.755A>Gp.Asn252SerUncertain significance (VOUS)PROVISIONAL
 2013-08-16
exon 10c.942T>Cp.(=)Likely benignVALIDATED
 2013-08-16
exon 10c.943_944delp.Leu315Glyfs*51Likely pathogenicVALIDATED
 2013-08-16
exon 10c.999C>Tp.(=)Likely benignVALIDATED
 2013-08-16
exon 10c.975C>Tp.(=)Likely benignVALIDATED
 2013-08-16
exon 5c.395delp.Val132Glufs*27Likely pathogenicVALIDATED
 2013-07-11
exon 9c.852dupp.Ala285Serfs*15Not classifiedTo be validated
 2013-07-11
exon 11c.1058_1071delp.Pro353Leufs*3Not classifiedTo be validated
 2013-07-11
exon 2c.23T>Ap.Val8GluLikely pathogenicPROVISIONAL
 2013-05-06
exon 3c.119G>Tp.Arg40LeuUnsolvedUNSOLVED
 2013-05-06
exon 5c.431G>Tp.Gly144ValLikely pathogenicPROVISIONAL
 2013-05-06
exon 9c.790delp.Leu264Serfs*2PathogenicVALIDATED
 2013-02-05
exon 10c.1004G>Cp.Gly335AlaUnsolvedUNSOLVED
 2013-02-05
exon 10c.943C>Gp.Leu315ValUncertain significance (VOUS)VALIDATED
 2013-02-05
exon 7c.643C>Tp.Arg215*PathogenicVALIDATED
 2013-02-05
exon 2c.3G>Cp.0PathogenicVALIDATED
 2013-02-05
exon 2c.34G>Cp.Gly12ArgLikely pathogenicVALIDATED
 2013-02-05
exon 3c.122T>Cp.Leu41ProLikely pathogenicVALIDATED
 2013-02-05
exon 5c.481_482delp.Cys161Argfs*25Likely pathogenicVALIDATED
 2013-02-05
exon 8c.764T>Cp.Leu255ProUncertain significance (VOUS)VALIDATED
 2013-02-05
exon 9c.836T>Cp.Leu279ProLikely pathogenicVALIDATED
 2013-02-05
exon 9c.871T>Gp.Tyr291AspLikely pathogenicVALIDATED
 2013-02-05
intron 10c.1039+2T>Cp.Leu348Ilefs*17Likely pathogenicVALIDATED
 2013-02-05
exon 10c.935A>Gp.His312ArgUnsolvedUNSOLVED
 2013-02-05
exon 11c.1094T>Cp.Phe365SerLikely pathogenicVALIDATED
 2013-02-05
intron 8c.769-97G>A-Likely benignVALIDATED
 2012-12-21
intron 2c.78+10C>T-Likely benignVALIDATED
 2012-12-07
exon 11c.1144G>Cp.Ala382ProUncertain significance (VOUS)PROVISIONAL
 2012-12-03
exon 2c.62C>Tp.Ala21ValLikely pathogenicVALIDATED
 2012-10-12
intron 4c.372-6T>C-UnsolvedUNSOLVED
 2012-10-12
exon 3c.82G>Ap.Ala28ThrPathogenicVALIDATED
 2012-10-02
exon 11c.1085G>Tp.Ser362IleLikely pathogenicVALIDATED
 2012-10-02
exon 4c.289delp.Leu97Cysfs*36PathogenicVALIDATED
 2012-08-30
exon 5c.450_453delp.Cys152Trpfs*6Likely pathogenicVALIDATED
 2012-07-03
exon 11c.1189T>Cp.*397Argext*34PathogenicVALIDATED
 2012-06-13
intron 3c.227-1G>A-Likely pathogenicVALIDATED
 2012-06-12
exon 6c.612C>Ap.Asp204GluUncertain significance (VOUS)VALIDATED
 2012-02-20
exon 9c.833T>Cp.Val278AlaLikely pathogenicPROVISIONAL
 2012-02-20
exon 2c.1A>Cp.0PathogenicVALIDATED
 2012-01-30
exon 11c.1071delp.Lys357Asnfs*4Likely pathogenicVALIDATED
 2012-01-30
exon 9c.805G>Cp.Asp269HisUncertain significance (VOUS)VALIDATED
 2012-01-30
exon 2c.29C>Tp.Ala10ValLikely pathogenicVALIDATED
 2012-01-30
exon 9c.782T>Cp.Val261AlaLikely pathogenicPROVISIONAL
 2011-12-07
intron 9c.886-1G>A-Likely pathogenicVALIDATED
 2011-09-01
exon 8c.683C>Tp.Pro228LeuLikely pathogenicVALIDATED
 2011-09-01
exon 5c.449C>Tp.Ser150LeuLikely pathogenicVALIDATED
 2011-09-01
exon 10c.956G>Cp.Cys319SerUnsolvedUNSOLVED
 2011-05-26
exon 7c.635_637delp.Gly212delPathogenicVALIDATED
 2011-05-26
exon 9c.784G>Cp.Ala262ProUnsolvedUNSOLVED
 2011-03-17
exon 7c.634G>Ap.Gly212ArgLikely pathogenicVALIDATED
 2011-03-10
exon 7c.655G>Tp.Gly219TrpLikely pathogenicVALIDATED
 2011-03-10
intron 10c.1040-1G>A-Likely pathogenicVALIDATED
 2011-03-04
exon 5c.443C>Tp.Ala148ValLikely pathogenicVALIDATED
 2011-03-04
exon 10c.1004G>Ap.Gly335AspLikely pathogenicVALIDATED
 2011-03-04
exon 10c.1013G>Ap.Gly338AspLikely pathogenicVALIDATED
 2011-03-04
exon 11c.1126G>Ap.Gly376SerLikely pathogenicVALIDATED
 2011-03-04
exon 10c.893T>Cp.Ile298ThrLikely pathogenicVALIDATED
 2011-03-04
exon 11c.1136T>Ap.Ile379AsnLikely pathogenicVALIDATED
 2011-03-04
exon 4c.350T>Cp.Leu117ProLikely pathogenicVALIDATED
 2011-03-04
exon 3c.151C>Tp.Leu51PheLikely pathogenicPROVISIONAL
 2011-03-04
exon 7c.652C>Tp.Gln218*PathogenicVALIDATED
 2011-03-04
exon 11c.1169A>Cp.Gln390ProLikely pathogenicVALIDATED
 2011-03-04
exon 3c.107G>Cp.Arg36ThrLikely pathogenicPROVISIONAL
 2011-03-04
exon 10c.928G>Tp.Val310LeuLikely pathogenicVALIDATED
 2011-03-04
exon 10c.962T>Cp.Val321AlaLikely pathogenicPROVISIONAL
 2011-03-04
exon 5c.401G>Ap.Trp134*PathogenicVALIDATED
 2011-03-04
exon 5c.475_478delp.Thr159Cysfs*9PathogenicVALIDATED
 2011-03-04
exon 8c.689T>Cp.Leu230ProLikely pathogenicPROVISIONAL
 2010-09-29
exon 2c.14T>Cp.Val5AlaUncertain significance (VOUS)PROVISIONAL
 2010-08-26
intron 2c.78+3A>G-Uncertain significance (VOUS)PROVISIONAL
 2010-07-23
exon 3c.118C>Tp.Arg40Trp Likely pathogenicVALIDATED
 2010-05-18
exon 11c.1151C>Tp.Ser384PheUncertain significance (VOUS)PROVISIONAL
 2009-10-16
exon 4c.346T>Cp.Tyr116HisLikely pathogenicVALIDATED
 2009-09-10
intron 3c.227-3C>G-UnsolvedUNSOLVED
 2008-04-30
exon 8c.721C>Tp.Arg241CysPathogenicVALIDATED
 2008-04-30
exon 9c.857C>Tp.Pro286LeuUncertain significance (VOUS)VALIDATED
 2008-02-26
exon 11c.1156G>Ap.Asp386AsnUncertain significance (VOUS)VALIDATED
 2008-02-26
exon 3c.86delp.Leu29Argfs*5PathogenicVALIDATED
 2008-02-26
exon 2c.52G>Ap.Gly18ArgLikely pathogenicVALIDATED
 2007-08-22
intron 2c.78+2del-Likely pathogenicVALIDATED
 2007-07-03
exon 5c.439G>Ap.Ala147ThrLikely pathogenicVALIDATED
 2006-09-21
exon 6c.613A>Gp.Asn205AspLikely pathogenicVALIDATED
 2006-09-21
exon 8c.701T>Cp.Leu234ProPathogenicVALIDATED
 2006-09-21
exon 8c.709A>Tp.Thr237SerPathogenicVALIDATED
 2006-09-21
exon 10c.965C>Gp.Thr322SerLikely pathogenicVALIDATED
 2006-09-21
exon 3c.129_130delp.His44Glnfs*35PathogenicVALIDATED
 2006-09-21
exon 4c.277_283delp.Glu93Glnfs*38PathogenicVALIDATED
 2006-09-21
exon 4c.340_344delp.Tyr114Ilefs*71PathogenicVALIDATED
 2006-09-21
exon 6c.571delp.Gln191Lysfs*5PathogenicVALIDATED
 2006-09-21
exon 11c.1095_1098delp.Asp366Alafs*110Likely pathogenicVALIDATED
 2006-09-21
exon 5c.417dupCp.Gly140Argfs*47Not classifiedTo be validated
 2006-09-21
exon 6c.606_607insGp.Val203Glyfs*74Not classifiedTo be validated
 2006-09-21
exon 5c.503_512delinsACp.Leu168Hisfs*16Not classifiedTo be validated
 2006-09-21
intron 7c.678-1G>Cp.?Likely pathogenicVALIDATED
 2006-09-21
exon 8c.684A>Gp.(=)Likely benignVALIDATED
 2006-09-21
intron 10c.1039+1G>Tp.Glu296Glyfs*14Likely pathogenicVALIDATED
 2006-08-02
exon 5c.421delp.Ala141Argfs*18PathogenicVALIDATED
 2006-07-04
exon 11c.1162C>Tp.Arg388*PathogenicVALIDATED
 2006-05-10
intron 4c.372-3C>T-Uncertain significance (VOUS)VALIDATED
 2006-05-02
exon 9c.863C>Tp.Pro288LeuUncertain significance (VOUS)PROVISIONAL
 2006-05-02
exon 9c.877G>Ap.Val293MetUncertain significance (VOUS)VALIDATED
 2006-05-02
exon 10c.1005C>Tp.(=)Likely benignVALIDATED
 2006-05-02
exon 10c.1006G>Ap.Gly336SerLikely pathogenicVALIDATED
 2006-05-02
exon 11c.1100G>Cp.Cys367SerUncertain significance (VOUS)VALIDATED
 2006-05-02
exon 9c.831C>Tp.(=)BenignVALIDATED
 2006-04-27
5 flankingc.-207T>A-Not classifiedTo be validated
 2006-04-13
5 flankingc.-325A>T-Not classifiedTo be validated
 2006-04-05
exon 9c.830G>Ap.Arg277HisLikely pathogenicVALIDATED
 2006-01-04
5 flankingc.-464_-463delGCinsTT-Not classifiedTo be validated
 2005-12-29
5 flankingc.-228G>A-Not classifiedTo be validated
 2005-12-29
intron 8c.769-103C>T-Likely benignVALIDATED
 2005-12-29
exon 10c.986G>Ap.Ser329AsnLikely pathogenicVALIDATED
 2005-10-06
exon 11c.1132T>Cp.Ser378ProLikely pathogenicPROVISIONAL
 2005-03-07
intron 8c.769-7_769-6dup-Likely benignPROVISIONAL
 2005-01-26
exon 2c.16_34delp.Leu6Glyfs*16PathogenicVALIDATED
 2004-12-16
exon 2c.60T>Ap.His20GlnPathogenicVALIDATED
 2004-12-16
exon 5c.394G>Ap.Val132IlePathogenicVALIDATED
 2004-12-16
exon 5c.511G>Ap.Gly171ArgPathogenicVALIDATED
 2004-12-16
exon 7c.632G>Ap.Gly211GluPathogenicVALIDATED
 2004-12-16
exon 8c.748G>Ap.Val250IleLikely pathogenicVALIDATED
 2004-12-16
exon 11c.1127G>Tp.Gly376ValLikely pathogenicVALIDATED
 2004-12-16
exon 4c.357C>Gp.Ile119MetLikely pathogenicVALIDATED
 2004-12-16
exon 5c.405G>Ap.(=)BenignVALIDATED
 2004-12-16
exon 10c.924C>Tp.(=)Likely benignVALIDATED
 2004-12-16
exon 11c.1067C>Tp.Thr356MetUncertain significance (VOUS)VALIDATED
 2004-12-16
intron 2c.78+61A>G-Likely benignVALIDATED
 2004-12-16
intron 2c.78+177G>A-Likely benignVALIDATED
 2004-12-16
intron 2c.79-62G>A-Likely benignVALIDATED
 2004-12-16
intron 4c.371+8C>T-Likely benignVALIDATED
 2004-12-16
intron 6c.632-18A>G-Likely benignVALIDATED
 2004-12-16
3UTc.*11C>T-Uncertain significance (VOUS)VALIDATED
 2004-12-16
intron 6c.632-71A>G-Likely benignVALIDATED
 2004-12-16
intron 8c.768+23G>C-Likely benignVALIDATED
 2004-12-16
exon 9c.794T>Gp.Leu265ArgPathogenicVALIDATED
 2004-10-05
exon 6c.608T>Cp.Val203AlaPathogenicVALIDATED
 2004-03-18
intron 8c.769-7T>G-Likely benignVALIDATED
 2004-03-08
exon 2c.75C>Tp.Lys26Serfs*52Likely pathogenicVALIDATED
 2003-12-15
exon 6c.591C>Tp.His197HisLikely benignVALIDATED
 2003-10-15
exon 2c.22G>Cp.Val8LeuLikely pathogenicVALIDATED
 2003-10-13
exon 4c.238G>Ap.Val80IleLikely benignVALIDATED
 2003-10-08
exon 10c.987C>Ap.Ser329ArgLikely pathogenicPROVISIONAL
 2003-09-23
exon 3c.79_226delp.Val27Serfs*16PathogenicVALIDATED
 2003-09-23
intron 8c.769-38C>T-Likely benignVALIDATED
 2003-09-18
exon 7c.632G>Cp.Gly211AlaLikely pathogenicVALIDATED
 2003-09-12
exon 11c.1139A>Gp.His380ArgLikely pathogenicVALIDATED
 2003-08-29
exon 2c.72dupTp.Gly25Trpfs*55PathogenicVALIDATED
 2003-08-04
exon 5c.421dupGp.Ala141Glyfs*46Not classifiedTo be validated
 2003-08-04
intron 9c.885+24G>A-Likely benignVALIDATED
 2003-07-25
exon 10c.902A>Cp.Asn301ThrPathogenicVALIDATED
 2003-07-22
exon 10c.928G>Ap.Val310MetPathogenicVALIDATED
 2003-07-22
exon 5c.516T>Cp.(=)Likely benignVALIDATED
 2003-07-22
exon 9c.780C>Ap.(=)Likely benignVALIDATED
 2003-07-22
exon 9c.829C>Tp.Arg277CysPathogenicVALIDATED
 2003-07-22
exon 3c.104T>Cp.Leu35SerPathogenicVALIDATED
 2003-07-21
exon 8c.728C>Tp.Thr243IleLikely pathogenicVALIDATED
 2003-07-21
exon 9c.790C>Tp.Leu264PheLikely pathogenicPROVISIONAL
 2003-07-21
exon 9c.794T>Cp.Leu265ProPathogenicVALIDATED
 2003-07-21
exon 10c.1000G>Ap.Ala334ThrPathogenicVALIDATED
 2003-07-21
exon 9c.815C>Tp.Ser272PheLikely pathogenicVALIDATED
 2003-07-21
exon 8c.737T>Cp.Leu246ProLikely pathogenicVALIDATED
 2003-04-04
exon 6c.564G>Ap.Trp188*PathogenicVALIDATED
 2003-02-25
5UTc.-14_78delp.Met1_Lys26delLikely pathogenicVALIDATED
 2002-05-27
exon 5c.372_527delp.Ala125_Arg176delPathogenicVALIDATED
 2002-05-27
3UTc.*54_55insG-Not classifiedTo be validated
 2002-05-27
exon 10c.976G>Ap.Gly326ArgLikely pathogenicPROVISIONAL
 2002-02-06
exon 2c.59A>Cp.His20ProPathogenicVALIDATED
 2002-02-05
exon 2c.58C>Ap.His20AsnPathogenicVALIDATED
 2002-02-05
exon 3c.116T>Cp.Leu39ProPathogenicVALIDATED
 2002-02-05
exon 5c.404C>Tp.Ser135LeuLikely pathogenicVALIDATED
 2002-02-05
exon 5c.442G>Ap.Ala148ThrLikely pathogenicVALIDATED
 2002-02-05
exon 5c.447C>Gp.Tyr149*PathogenicVALIDATED
 2002-02-05
exon 5c.494C>Tp.Pro165LeuLikely pathogenicVALIDATED
 2002-02-05
exon 6c.604G>Ap.Gly202ArgPathogenicVALIDATED
 2002-02-05
exon 6c.625A>Gp.Thr209AlaLikely pathogenicVALIDATED
 2002-02-05
exon 7c.644G>Ap.Arg215GlnLikely pathogenicVALIDATED
 2002-02-05
exon 9c.803T>Cp.Ile268ThrPathogenicVALIDATED
 2002-02-05
exon 10c.925G>Ap.Gly309SerPathogenicVALIDATED
 2002-02-05
exon 11c.1129G>Ap.Val377IlePathogenicVALIDATED
 2002-02-05
exon 5c.510C>Tp.(=)BenignVALIDATED
 2002-02-05
exon 3c.185G>Ap.Trp62*PathogenicVALIDATED
 2002-02-05
exon 2c.37A>Tp.Lys13*PathogenicVALIDATED
 2002-02-05
exon 3c.155G>Ap.Ser52AsnBenignVALIDATED
 2002-02-05