MVK (NM_000431.3) sequence variants

Editor(s): Laurence CUISSET   

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

Total current number of sequence variants for MVK : 215

*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.-464_-463delGCinsTT-Not classifiedNot classified
 2005-12-29
5 flankingc.-325A>T-Not classifiedNot classified
 2006-04-05
5 flankingc.-228G>A-Not classifiedNot classified
 2005-12-29
5 flankingc.-207T>A-Not classifiedNot classified
 2006-04-13
5UTc.-14_78delp.Met1_Lys26delLikely pathogenicVALIDATED
 2002-05-27
exon 2c.1A>Cp.?PathogenicVALIDATED
 2012-01-30
exon 2c.3G>Cp.?PathogenicVALIDATED
 2013-02-05
exon 2c.14T>Cp.Val5AlaUncertain significance (VOUS)PROVISIONAL
 2010-08-26
exon 2c.16_34delp.Leu6Glyfs*16PathogenicVALIDATED
 2004-12-16
exon 2c.22G>Cp.Val8LeuLikely pathogenicVALIDATED
 2003-10-13
exon 2c.22G>Ap.Val8MetLikely pathogenicVALIDATED
 2013-08-16
exon 2c.23T>Ap.Val8GluLikely pathogenicPROVISIONAL
 2013-05-06
exon 2c.29C>Tp.Ala10ValLikely pathogenicVALIDATED
 2012-01-30
exon 2c.34G>Cp.Gly12ArgLikely pathogenicVALIDATED
 2013-02-05
exon 2c.37A>Tp.Lys13*PathogenicVALIDATED
 2002-02-05
exon 2c.37A>Cp.Lys13GlnLikely pathogenicVALIDATED
 2017-08-16
exon 2c.38_39insTCTGp.Lys13Asnfs*68Not classifiedNot classified
 2013-08-30
exon 2c.52G>Ap.Gly18ArgLikely pathogenicVALIDATED
 2007-08-22
exon 2c.55G>Ap.Glu19LysUnsolvedUNSOLVED
 2014-04-01
exon 2c.58C>Ap.His20AsnPathogenicVALIDATED
 2002-02-05
exon 2c.59A>Cp.His20ProPathogenicVALIDATED
 2002-02-05
exon 2c.60T>Ap.His20GlnPathogenicVALIDATED
 2004-12-16
exon 2c.62C>Tp.Ala21ValLikely pathogenicVALIDATED
 2012-10-12
exon 2c.64G>Ap.Val22MetUnsolvedUNSOLVED
 2013-08-16
exon 2c.71A>Cp.His24ProPathogenicVALIDATED
 2014-09-26
exon 2c.72dupTp.Gly25Trpfs*55PathogenicVALIDATED
 2003-08-04
exon 2c.75C>Tp.Lys26Serfs*52Likely pathogenicVALIDATED
 2003-12-15
intron 2c.78+2del-Likely pathogenicVALIDATED
 2007-07-03
intron 2c.78+3A>G-Uncertain significance (VOUS)PROVISIONAL
 2010-07-23
intron 2c.78+10C>T-Likely benignVALIDATED
 2012-12-07
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
exon 3c.79_226delp.Val27Serfs*16PathogenicVALIDATED
 2003-09-23
exon 3c.82G>Ap.Ala28ThrPathogenicVALIDATED
 2012-10-02
exon 3c.86delp.Leu29Argfs*5PathogenicVALIDATED
 2008-02-26
exon 3c.104T>Cp.Leu35SerPathogenicVALIDATED
 2003-07-21
exon 3c.107G>Cp.Arg36ThrLikely pathogenicPROVISIONAL
 2011-03-04
exon 3c.116T>Cp.Leu39ProPathogenicVALIDATED
 2002-02-05
exon 3c.118C>Tp.Arg40Trp Likely pathogenicVALIDATED
 2010-05-18
exon 3c.119G>Tp.Arg40LeuUnsolvedUNSOLVED
 2013-05-06
exon 3c.122T>Cp.Leu41ProLikely pathogenicVALIDATED
 2013-02-05
exon 3c.129_130delp.His44Glnfs*35PathogenicVALIDATED
 2006-09-21
exon 3c.151C>Tp.Leu51PheLikely pathogenicPROVISIONAL
 2011-03-04
exon 3c.155G>Ap.Ser52AsnBenignVALIDATED
 2002-02-05
exon 3c.166A>Gp.Ile56ValUncertain significance (VOUS)VALIDATED
 2013-08-16
exon 3c.185G>Ap.Trp62*PathogenicVALIDATED
 2002-02-05
exon 3c.186G>Ap.Trp62*PathogenicVALIDATED
 2014-05-19
exon 3c.205T>Ap.Ser69ThrUnsolvedUNSOLVED
 2014-07-29
intron 3c.227-3C>G-UnsolvedUNSOLVED
 2008-04-30
intron 3c.227-1G>A-Likely pathogenicVALIDATED
 2012-06-12
exon 4c.238G>Ap.Val80IleLikely benignVALIDATED
 2003-10-08
exon 4c.277_283delp.Glu93Glnfs*38PathogenicVALIDATED
 2006-09-21
exon 4c.289delp.Leu97Cysfs*36PathogenicVALIDATED
 2012-08-30
exon 4c.340_344delp.Tyr114Ilefs*71PathogenicVALIDATED
 2006-09-21
exon 4c.346T>Cp.Tyr116HisLikely pathogenicVALIDATED
 2009-09-10
exon 4c.350T>Cp.Leu117ProLikely pathogenicVALIDATED
 2011-03-04
exon 4c.357C>Gp.Ile119MetLikely pathogenicVALIDATED
 2004-12-16
exon 4c.370A>Tp.Arg124TrpLikely pathogenicVALIDATED
 2013-08-16
intron 4c.371+8C>T-Likely benignVALIDATED
 2004-12-16
intron 4c.371+49A>G-Likely benignVALIDATED
 2013-10-01
intron 4c.372-6T>C-UnsolvedUNSOLVED
 2012-10-12
intron 4c.372-3C>T-Uncertain significance (VOUS)VALIDATED
 2006-05-02
exon 5c.372_527delp.Ala125_Arg176delPathogenicVALIDATED
 2002-05-27
exon 5c.380C>Tp.Pro127LeuUncertain significance (VOUS)VALIDATED
 2014-02-24
exon 5c.394G>Ap.Val132IlePathogenicVALIDATED
 2004-12-16
exon 5c.395delp.Val132Glufs*27Likely pathogenicVALIDATED
 2013-07-11
exon 5c.401G>Ap.Trp134*PathogenicVALIDATED
 2011-03-04
exon 5c.404C>Tp.Ser135LeuLikely pathogenicVALIDATED
 2002-02-05
exon 5c.405G>Ap.(=)BenignVALIDATED
 2004-12-16
exon 5c.417dupCp.Gly140Argfs*47Not classifiedNot classified
 2006-09-21
exon 5c.421dupGp.Ala141Glyfs*46Not classifiedNot classified
 2003-08-04
exon 5c.421delp.Ala141Argfs*18PathogenicVALIDATED
 2006-07-04
exon 5c.425G>Ap.Gly142AspUnsolvedUNSOLVED
 2013-08-16
exon 5c.431G>Tp.Gly144ValLikely pathogenicPROVISIONAL
 2013-05-06
exon 5c.439G>Ap.Ala147ThrLikely pathogenicVALIDATED
 2006-09-21
exon 5c.441C>Tp.Ala147AlaLikely benignVALIDATED
 2017-09-05
exon 5c.442G>Ap.Ala148ThrLikely pathogenicVALIDATED
 2002-02-05
exon 5c.443C>Tp.Ala148ValLikely pathogenicVALIDATED
 2011-03-04
exon 5c.447C>Gp.Tyr149*PathogenicVALIDATED
 2002-02-05
exon 5c.449C>Tp.Ser150LeuLikely pathogenicVALIDATED
 2011-09-01
exon 5c.450_453delp.Cys152Trpfs*6Likely pathogenicVALIDATED
 2012-07-03
exon 5c.450G>Ap.(=)Likely benignVALIDATED
 2013-10-15
exon 5c.455G>Ap.Cys152TyrNot classifiedNot classified
 2018-04-30
exon 5c.475_478delp.Thr159Cysfs*9PathogenicVALIDATED
 2011-03-04
exon 5c.481_482delp.Cys161Argfs*25Likely pathogenicVALIDATED
 2013-02-05
exon 5c.481T>Cp.Cys161ArgNot classifiedNot classified
 2017-11-20
exon 5c.494C>Tp.Pro165LeuLikely pathogenicVALIDATED
 2002-02-05
exon 5c.500C>Tp.Pro167leu Likely pathogenicVALIDATED
 2017-08-18
exon 5c.503_512delinsACp.Leu168Hisfs*16Not classifiedNot classified
 2006-09-21
exon 5c.510C>Tp.(=)BenignVALIDATED
 2002-02-05
exon 5c.511G>Ap.Gly171ArgPathogenicVALIDATED
 2004-12-16
exon 5c.516T>Cp.(=)Likely benignVALIDATED
 2003-07-22
exon 6c.564G>Ap.Trp188*PathogenicVALIDATED
 2003-02-25
exon 6c.571delp.Gln191Lysfs*5PathogenicVALIDATED
 2006-09-21
exon 6c.591C>Tp.His197HisLikely benignVALIDATED
 2003-10-15
exon 6c.604G>Ap.Gly202ArgPathogenicVALIDATED
 2002-02-05
exon 6c.606_607insGp.Val203Glyfs*74Not classifiedNot classified
 2006-09-21
exon 6c.608T>Cp.Val203AlaPathogenicVALIDATED
 2004-03-18
exon 6c.612C>Ap.Asp204GluUncertain significance (VOUS)VALIDATED
 2012-02-20
exon 6c.613A>Gp.Asn205AspLikely pathogenicVALIDATED
 2006-09-21
exon 6c.625A>Gp.Thr209AlaLikely pathogenicVALIDATED
 2002-02-05
intron 6c.632-71A>G-Likely benignVALIDATED
 2004-12-16
intron 6c.632-18A>G-Likely benignVALIDATED
 2004-12-16
exon 7c.632G>Cp.Gly211AlaLikely pathogenicVALIDATED
 2003-09-12
exon 7c.632G>Ap.Gly211GluPathogenicVALIDATED
 2004-12-16
exon 7c.634G>Ap.Gly212ArgLikely pathogenicVALIDATED
 2011-03-10
exon 7c.635_637delp.Gly212delPathogenicVALIDATED
 2011-05-26
exon 7c.643C>Tp.Arg215*PathogenicVALIDATED
 2013-02-05
exon 7c.643C>Gp.Arg215GlyUncertain significance (VOUS)PROVISIONAL
 2014-03-10
exon 7c.644G>Ap.Arg215GlnLikely pathogenicVALIDATED
 2002-02-05
exon 7c.652C>Tp.Gln218*PathogenicVALIDATED
 2011-03-04
exon 7c.655G>Tp.Gly219TrpLikely pathogenicVALIDATED
 2011-03-10
intron 7c.678-78del-Likely benignPROVISIONAL
 2014-03-03
intron 7c.678-1G>Cp.Arg226fsLikely pathogenicVALIDATED
 2006-09-21
intron 7c.678-1G>Ap.? or p.(Arg226fs)Likely pathogenicVALIDATED
 2013-08-16
exon 8c.683C>Tp.Pro228LeuLikely pathogenicVALIDATED
 2011-09-01
exon 8c.684A>Gp.(=)Likely benignVALIDATED
 2006-09-21
exon 8c.689T>Cp.Leu230ProLikely pathogenicPROVISIONAL
 2010-09-29
exon 8c.701T>Cp.Leu234ProPathogenicVALIDATED
 2006-09-21
exon 8c.709A>Tp.Thr237SerPathogenicVALIDATED
 2006-09-21
exon 8c.721C>Tp.Arg241CysPathogenicVALIDATED
 2008-04-30
exon 8c.728C>Tp.Thr243IleLikely pathogenicVALIDATED
 2003-07-21
exon 8c.737T>Cp.Leu246ProLikely pathogenicVALIDATED
 2003-04-04
exon 8c.748G>Ap.Val250IleLikely pathogenicVALIDATED
 2004-12-16
exon 8c.748G>Tp.Val250Phe UnsolvedUNSOLVED
 2017-08-18
exon 8c.755A>Gp.Asn252SerUncertain significance (VOUS)PROVISIONAL
 2013-08-16
exon 8c.764T>Cp.Leu255ProUncertain significance (VOUS)VALIDATED
 2013-02-05
intron 8c.768+23G>C-Likely benignVALIDATED
 2004-12-16
intron 8c.769-103C>T-Likely benignVALIDATED
 2005-12-29
intron 8c.769-97G>A-Likely benignVALIDATED
 2012-12-21
intron 8c.769-38C>T-Likely benignVALIDATED
 2003-09-18
intron 8c.769-7T>G-Likely benignVALIDATED
 2004-03-08
intron 8c.769-7_769-6dup-Likely benignPROVISIONAL
 2005-01-26
exon 9c.780C>Ap.(=)Likely benignVALIDATED
 2003-07-22
exon 9c.782T>Cp.Val261AlaLikely pathogenicPROVISIONAL
 2011-12-07
exon 9c.784G>Cp.Ala262ProUnsolvedUNSOLVED
 2011-03-17
exon 9c.789C>Ap.(=)Likely benignVALIDATED
 2013-08-27
exon 9c.790C>Tp.Leu264PheLikely pathogenicPROVISIONAL
 2003-07-21
exon 9c.790delp.Leu264Serfs*2PathogenicVALIDATED
 2013-02-05
exon 9c.794T>Cp.Leu265ProPathogenicVALIDATED
 2003-07-21
exon 9c.794T>Gp.Leu265ArgPathogenicVALIDATED
 2004-10-05
exon 9c.803T>Cp.Ile268ThrPathogenicVALIDATED
 2002-02-05
exon 9c.805G>Cp.Asp269HisUncertain significance (VOUS)VALIDATED
 2012-01-30
exon 9c.815C>Tp.Ser272PheLikely pathogenicVALIDATED
 2003-07-21
exon 9c.829C>Tp.Arg277CysPathogenicVALIDATED
 2003-07-22
exon 9c.829C>Gp.Arg277GlyLikely pathogenicVALIDATED
 2014-03-31
exon 9c.830G>Ap.Arg277HisLikely pathogenicVALIDATED
 2006-01-04
exon 9c.831C>Tp.(=)BenignVALIDATED
 2006-04-27
exon 9c.833T>Cp.Val278AlaLikely pathogenicPROVISIONAL
 2012-02-20
exon 9c.836T>Cp.Leu279ProLikely pathogenicVALIDATED
 2013-02-05
exon 9c.850delp.Glu284Lysfs*17PathogenicVALIDATED
 2013-08-30
exon 9c.852dupp.Ala285Serfs*15Not classifiedNot classified
 2013-07-11
exon 9c.857C>Tp.Pro286LeuUncertain significance (VOUS)VALIDATED
 2008-02-26
exon 9c.863C>Tp.Pro288LeuUncertain significance (VOUS)PROVISIONAL
 2006-05-02
exon 9c.871T>Gp.Tyr291AspLikely pathogenicVALIDATED
 2013-02-05
exon 9c.877G>Ap.Val293MetUncertain significance (VOUS)VALIDATED
 2006-05-02
intron 9c.885+24G>A-Likely benignVALIDATED
 2003-07-25
intron 9c.885+117C>A-Likely benignVALIDATED
 2017-09-05
intron 9c.886-1G>A-Likely pathogenicVALIDATED
 2011-09-01
exon 10c.893T>Cp.Ile298ThrLikely pathogenicVALIDATED
 2011-03-04
exon 10c.895G>A p.Asp299AsnNot classifiedNot classified
 2018-04-03
exon 10c.902A>Cp.Asn301ThrPathogenicVALIDATED
 2003-07-22
exon 10c.924C>Tp.(=)Likely benignVALIDATED
 2004-12-16
exon 10c.925G>Ap.Gly309SerPathogenicVALIDATED
 2002-02-05
exon 10c.928G>Ap.Val310MetPathogenicVALIDATED
 2003-07-22
exon 10c.928G>Tp.Val310LeuLikely pathogenicVALIDATED
 2011-03-04
exon 10c.931G>Cp.Gly311ArgLikely pathogenicVALIDATED
 2014-04-17
exon 10c.935A>Gp.His312ArgUnsolvedUNSOLVED
 2013-02-05
exon 10c.942T>Cp.(=)Likely benignVALIDATED
 2013-08-16
exon 10c.943C>Gp.Leu315ValUncertain significance (VOUS)VALIDATED
 2013-02-05
exon 10c.943_944delp.Leu315Glyfs*51Likely pathogenicVALIDATED
 2013-08-16
exon 10c.956G>Cp.Cys319SerUnsolvedUNSOLVED
 2011-05-26
exon 10c.962T>Cp.Val321AlaLikely pathogenicPROVISIONAL
 2011-03-04
exon 10c.965C>Gp.Thr322SerLikely pathogenicVALIDATED
 2006-09-21
exon 10c.975C>Tp.(=)Likely benignVALIDATED
 2013-08-16
exon 10c.976G>Ap.Gly326ArgLikely pathogenicPROVISIONAL
 2002-02-06
exon 10c.986G>Ap.Ser329AsnLikely pathogenicVALIDATED
 2005-10-06
exon 10c.987C>Ap.Ser329ArgLikely pathogenicPROVISIONAL
 2003-09-23
exon 10c.999C>Tp.(=)Likely benignVALIDATED
 2013-08-16
exon 10c.1000G>Ap.Ala334ThrPathogenicVALIDATED
 2003-07-21
exon 10c.1004G>Ap.Gly335AspLikely pathogenicVALIDATED
 2011-03-04
exon 10c.1004G>Cp.Gly335AlaUnsolvedUNSOLVED
 2013-02-05
exon 10c.1005C>Tp.(=)Likely benignVALIDATED
 2006-05-02
exon 10c.1006G>Ap.Gly336SerLikely pathogenicVALIDATED
 2006-05-02
exon 10c.1013G>Ap.Gly338AspLikely pathogenicVALIDATED
 2011-03-04
exon 10c.1028T>Cp.Leu343ProLikely pathogenicVALIDATED
 2013-09-25
intron 10c.1039+1G>Tp.Glu296Glyfs*14Likely pathogenicVALIDATED
 2006-08-02
intron 10c.1039+2T>Cp.Leu348Ilefs*17Likely pathogenicVALIDATED
 2013-02-05
intron 9c.1039+7C>T-Likely benignVALIDATED
 2017-09-05
intron 10c.1040-1G>A-Likely pathogenicVALIDATED
 2011-03-04
exon 11c.1058_1071delp.Pro353Leufs*3Not classifiedNot classified
 2013-07-11
exon 11c.1067C>Tp.Thr356MetUncertain significance (VOUS)VALIDATED
 2004-12-16
exon 11c.1071delp.Lys357Asnfs*4Likely pathogenicVALIDATED
 2012-01-30
exon 11c.1085G>Tp.Ser362IleLikely pathogenicVALIDATED
 2012-10-02
exon 11c.1094T>Cp.Phe365SerLikely pathogenicVALIDATED
 2013-02-05
exon 11c.1095_1098delp.Asp366Alafs*110Likely pathogenicVALIDATED
 2006-09-21
exon 11c.1100G>Cp.Cys367SerUncertain significance (VOUS)VALIDATED
 2006-05-02
exon 11c.1116C>Gp.Ile372MetUncertain significance (VOUS)VALIDATED
 2013-08-30
exon 11c.1126G>Ap.Gly376SerLikely pathogenicVALIDATED
 2011-03-04
exon 11c.1127G>Tp.Gly376ValLikely pathogenicVALIDATED
 2004-12-16
exon 11c.1129G>Ap.Val377IlePathogenicVALIDATED
 2002-02-05
exon 11c.1132T>Cp.Ser378ProLikely pathogenicPROVISIONAL
 2005-03-07
exon 11c.1136T>Ap.Ile379AsnLikely pathogenicVALIDATED
 2011-03-04
exon 11c.1139A>Gp.His380ArgLikely pathogenicVALIDATED
 2003-08-29
exon 11c.1144G>Cp.Ala382ProUncertain significance (VOUS)PROVISIONAL
 2012-12-03
exon 11c.1151C>Tp.Ser384PheUncertain significance (VOUS)PROVISIONAL
 2009-10-16
exon 11c.1156G>Ap.Asp386AsnUncertain significance (VOUS)VALIDATED
 2008-02-26
exon 11c.1162C>Tp.Arg388*PathogenicVALIDATED
 2006-05-10
exon 11c.1168C>T p.Gln390*Not classifiedNot classified
 2018-04-03
exon 11c.1169A>Cp.Gln390ProLikely pathogenicVALIDATED
 2011-03-04
exon 11c.1189T>Cp.*397Argext*34PathogenicVALIDATED
 2012-06-13
3UTc.*11C>T-Uncertain significance (VOUS)VALIDATED
 2004-12-16
3UTc.*35C>T-Likely benignVALIDATED
 2017-09-05
3UTc.*54_55insG-Not classifiedNot classified
 2002-05-27