Infevers - Tabular list

^*This classification is proposed by the INSAID study group. Ref. If you have new data: please send us a re-evaluation proposal here

Location	HGVS sequence name	HGVS protein name	Classification *	Status *	Simple variant	Complex alleles	Input date
5 flanking	c.-464_-463delGCinsTT	-	Not classified	Not validated			2005-12-29
5 flanking	c.-325A>T	-	Not classified	Not validated			2006-04-05
5 flanking	c.-228G>A	-	Not classified	Not validated			2005-12-29
5 flanking	c.-207T>A	-	Not classified	Not validated			2006-04-13
5UT	c.-14_78del	p.Met1_Lys26del	Likely pathogenic	VALIDATED			2002-05-27
exon 2	c.1A>C	p.0	Pathogenic	VALIDATED			2012-01-30
exon 2	c.3G>C	p.0	Pathogenic	VALIDATED			2013-02-05
exon 2	c.14T>C	p.Val5Ala	Uncertain significance (VOUS)	PROVISIONAL			2010-08-26
exon 2	c.16_34del	p.Leu6Glyfs*16	Pathogenic	VALIDATED			2004-12-16
exon 2	c.22G>C	p.Val8Leu	Likely pathogenic	VALIDATED			2003-10-13
exon 2	c.22G>A	p.Val8Met	Likely pathogenic	VALIDATED			2013-08-16
exon 2	c.23T>A	p.Val8Glu	Likely pathogenic	PROVISIONAL			2013-05-06
exon 2	c.29C>T	p.Ala10Val	Likely pathogenic	VALIDATED			2012-01-30
exon 2	c.34G>C	p.Gly12Arg	Likely pathogenic	VALIDATED			2013-02-05
exon 2	c.37A>T	p.Lys13*	Pathogenic	VALIDATED			2002-02-05
exon 2	c.37A>C	p.Lys13Gln	Likely pathogenic	VALIDATED			2017-08-16
exon 2	c.38_39insTCTG	p.Lys13Asnfs*68	Not classified	Not validated			2013-08-30
exon 2	c.52G>A	p.Gly18Arg	Likely pathogenic	VALIDATED			2007-08-22
exon 2	c.55G>A	p.Glu19Lys	Unsolved	UNSOLVED			2014-04-01
exon 2	c.58C>A	p.His20Asn	Pathogenic	VALIDATED			2002-02-05
exon 2	c.59A>C	p.His20Pro	Pathogenic	VALIDATED			2002-02-05
exon 2	c.60T>A	p.His20Gln	Pathogenic	VALIDATED			2004-12-16
exon 2	c.62C>T	p.Ala21Val	Likely pathogenic	VALIDATED			2012-10-12
exon 2	c.64G>A	p.Val22Met	Unsolved	UNSOLVED			2013-08-16
exon 2	c.71A>C	p.His24Pro	Pathogenic	VALIDATED			2014-09-26
exon 2	c.72dupT	p.Gly25Trpfs*55	Pathogenic	VALIDATED			2003-08-04
exon 2	c.75C>T	p.Lys26Serfs*52	Likely pathogenic	VALIDATED			2003-12-15
intron 2	c.78+2del	-	Likely pathogenic	VALIDATED			2007-07-03
intron 2	c.78+3A>G	-	Uncertain significance (VOUS)	PROVISIONAL			2010-07-23
intron 2	c.78+10C>T	-	Likely benign	VALIDATED			2012-12-07
intron 2	c.78+61A>G	-	Likely benign	VALIDATED			2004-12-16
intron 2	c.78+177G>A	-	Likely benign	VALIDATED			2004-12-16
intron 2	c.79-62G>A	-	Likely benign	VALIDATED			2004-12-16
exon 3	c.79_226del	p.Val27Serfs*16	Pathogenic	VALIDATED			2003-09-23
exon 3	c.82G>A	p.Ala28Thr	Pathogenic	VALIDATED			2012-10-02
exon 3	c.86del	p.Leu29Argfs*5	Pathogenic	VALIDATED			2008-02-26
exon 3	c.104T>C	p.Leu35Ser	Pathogenic	VALIDATED			2003-07-21
exon 3	c.107G>C	p.Arg36Thr	Likely pathogenic	PROVISIONAL			2011-03-04
exon 3	c.116T>C	p.Leu39Pro	Pathogenic	VALIDATED			2002-02-05
exon 3	c.118C>T	p.Arg40Trp	Likely pathogenic	VALIDATED			2010-05-18
exon 3	c.119G>T	p.Arg40Leu	Unsolved	UNSOLVED			2013-05-06
exon 3	c.122T>C	p.Leu41Pro	Likely pathogenic	VALIDATED			2013-02-05
exon 3	c.129_130del	p.His44Glnfs*35	Pathogenic	VALIDATED			2006-09-21
exon 3	c.151C>T	p.Leu51Phe	Likely pathogenic	PROVISIONAL			2011-03-04
exon 3	c.155G>A	p.Ser52Asn	Benign	VALIDATED			2002-02-05
exon 3	c.166A>G	p.Ile56Val	Uncertain significance (VOUS)	VALIDATED			2013-08-16
exon 3	c.185G>A	p.Trp62*	Pathogenic	VALIDATED			2002-02-05
exon 3	c.186G>A	p.Trp62*	Pathogenic	VALIDATED			2014-05-19
exon 3	c.205T>A	p.Ser69Thr	Unsolved	UNSOLVED			2014-07-29
intron 3	c.227-3C>G	-	Unsolved	UNSOLVED			2008-04-30
intron 3	c.227-1G>A	-	Likely pathogenic	VALIDATED			2012-06-12
exon 4	c.238G>A	p.Val80Ile	Likely benign	VALIDATED			2003-10-08
exon 4	c.277_283del	p.Glu93Glnfs*38	Pathogenic	VALIDATED			2006-09-21
exon 4	c.289del	p.Leu97Cysfs*36	Pathogenic	VALIDATED			2012-08-30
exon 4	c.340_344del	p.Tyr114Ilefs*71	Pathogenic	VALIDATED			2006-09-21
exon 4	c.346T>C	p.Tyr116His	Likely pathogenic	VALIDATED			2009-09-10
exon 4	c.350T>C	p.Leu117Pro	Likely pathogenic	VALIDATED			2011-03-04
exon 4	c.357C>G	p.Ile119Met	Likely pathogenic	VALIDATED			2004-12-16
exon 4	c.370A>T	p.Arg124Trp	Likely pathogenic	VALIDATED			2013-08-16
intron 4	c.371+8C>T	-	Likely benign	VALIDATED			2004-12-16
intron 4	c.371+49A>G	-	Likely benign	VALIDATED			2013-10-01
intron 4	c.372-6T>C	-	Unsolved	UNSOLVED			2012-10-12
intron 4	c.372-3C>T	-	Uncertain significance (VOUS)	VALIDATED			2006-05-02
exon 5	c.372_527del	p.Ala125_Arg176del	Pathogenic	VALIDATED			2002-05-27
exon 5	c.380C>T	p.Pro127Leu	Uncertain significance (VOUS)	VALIDATED			2014-02-24
exon 5	c.394G>A	p.Val132Ile	Pathogenic	VALIDATED			2004-12-16
exon 5	c.395del	p.Val132Glufs*27	Likely pathogenic	VALIDATED			2013-07-11
exon 5	c.401G>A	p.Trp134*	Pathogenic	VALIDATED			2011-03-04
exon 5	c.404C>T	p.Ser135Leu	Likely pathogenic	VALIDATED			2002-02-05
exon 5	c.405G>A	p.(=)	Benign	VALIDATED			2004-12-16
exon 5	c.417dupC	p.Gly140Argfs*47	Not classified	Not validated			2006-09-21
exon 5	c.421dupG	p.Ala141Glyfs*46	Not classified	Not validated			2003-08-04
exon 5	c.421del	p.Ala141Argfs*18	Pathogenic	VALIDATED			2006-07-04
exon 5	c.425G>A	p.Gly142Asp	Unsolved	UNSOLVED			2013-08-16
exon 5	c.431G>T	p.Gly144Val	Likely pathogenic	PROVISIONAL			2013-05-06
exon 5	c.439G>A	p.Ala147Thr	Likely pathogenic	VALIDATED			2006-09-21
exon 5	c.441C>T	p.Ala147Ala	Likely benign	VALIDATED			2017-09-05
exon 5	c.442G>A	p.Ala148Thr	Likely pathogenic	VALIDATED			2002-02-05
exon 5	c.443C>T	p.Ala148Val	Likely pathogenic	VALIDATED			2011-03-04
exon 5	c.447C>G	p.Tyr149*	Pathogenic	VALIDATED			2002-02-05
exon 5	c.449C>T	p.Ser150Leu	Likely pathogenic	VALIDATED			2011-09-01
exon 5	c.450_453del	p.Cys152Trpfs*6	Likely pathogenic	VALIDATED			2012-07-03
exon 5	c.450G>A	p.(=)	Likely benign	VALIDATED			2013-10-15
exon 5	c.455G>A	p.Cys152Tyr	Not classified	Not validated			2018-04-30
exon 5	c.475_478del	p.Thr159Cysfs*9	Pathogenic	VALIDATED			2011-03-04
exon 5	c.481_482del	p.Cys161Argfs*25	Likely pathogenic	VALIDATED			2013-02-05
exon 5	c.481T>C	p.Cys161Arg	Not classified	Not validated			2017-11-20
exon 5	c.494C>T	p.Pro165Leu	Likely pathogenic	VALIDATED			2002-02-05
exon 5	c.500C>T	p.Pro167leu	Likely pathogenic	VALIDATED			2017-08-18
exon 5	c.503_512delinsAC	p.Leu168Hisfs*16	Not classified	Not validated			2006-09-21
exon 5	c.510C>T	p.(=)	Benign	VALIDATED			2002-02-05
exon 5	c.511G>A	p.Gly171Arg	Pathogenic	VALIDATED			2004-12-16
exon 5	c.516T>C	p.(=)	Likely benign	VALIDATED			2003-07-22
exon 6	c.564G>A	p.Trp188*	Pathogenic	VALIDATED			2003-02-25
exon 6	c.566C>T	p.Ala189Val	Not classified	Not validated			2019-01-03
exon 6	c.571del	p.Gln191Lysfs*5	Pathogenic	VALIDATED			2006-09-21
exon 6	c.591C>T	p.His197His	Likely benign	VALIDATED			2003-10-15
exon 6	c.604G>A	p.Gly202Arg	Pathogenic	VALIDATED			2002-02-05
exon 6	c.606_607insG	p.Val203Glyfs*74	Not classified	Not validated			2006-09-21
exon 6	c.608T>C	p.Val203Ala	Pathogenic	VALIDATED			2004-03-18
exon 6	c.612C>A	p.Asp204Glu	Uncertain significance (VOUS)	VALIDATED			2012-02-20
exon 6	c.613A>G	p.Asn205Asp	Likely pathogenic	VALIDATED			2006-09-21
exon 6	c.625A>G	p.Thr209Ala	Likely pathogenic	VALIDATED			2002-02-05
intron 6	c.632-71A>G	-	Likely benign	VALIDATED			2004-12-16
intron 6	c.632-18A>G	-	Likely benign	VALIDATED			2004-12-16
exon 7	c.632G>C	p.Gly211Ala	Likely pathogenic	VALIDATED			2003-09-12
exon 7	c.632G>A	p.Gly211Glu	Pathogenic	VALIDATED			2004-12-16
exon 7	c.634G>A	p.Gly212Arg	Likely pathogenic	VALIDATED			2011-03-10
exon 7	c.635_637del	p.Gly212del	Pathogenic	VALIDATED			2011-05-26
exon 7	c.643C>T	p.Arg215*	Pathogenic	VALIDATED			2013-02-05
exon 7	c.643C>G	p.Arg215Gly	Uncertain significance (VOUS)	PROVISIONAL			2014-03-10
exon 7	c.644G>A	p.Arg215Gln	Likely pathogenic	VALIDATED			2002-02-05
exon 7	c.652C>T	p.Gln218*	Pathogenic	VALIDATED			2011-03-04
exon 7	c.655G>T	p.Gly219Trp	Likely pathogenic	VALIDATED			2011-03-10
intron 7	c.678-78del	-	Likely benign	PROVISIONAL			2014-03-03
intron 7	c.678-1G>C	p.?	Likely pathogenic	VALIDATED			2006-09-21
intron 7	c.678-1G>A	p.? or p.(Arg226fs)	Likely pathogenic	VALIDATED			2013-08-16
exon 8	c.683C>T	p.Pro228Leu	Likely pathogenic	VALIDATED			2011-09-01
exon 8	c.684A>G	p.(=)	Likely benign	VALIDATED			2006-09-21
exon 8	c.689T>C	p.Leu230Pro	Likely pathogenic	PROVISIONAL			2010-09-29
exon 8	c.701T>C	p.Leu234Pro	Pathogenic	VALIDATED			2006-09-21
exon 8	c.709A>T	p.Thr237Ser	Pathogenic	VALIDATED			2006-09-21
exon 8	c.721C>T	p.Arg241Cys	Pathogenic	VALIDATED			2008-04-30
exon 8	c.728C>T	p.Thr243Ile	Likely pathogenic	VALIDATED			2003-07-21
exon 8	c.737T>C	p.Leu246Pro	Likely pathogenic	VALIDATED			2003-04-04
exon 8	c.748G>A	p.Val250Ile	Likely pathogenic	VALIDATED			2004-12-16
exon 8	c.748G>T	p.Val250Phe	Unsolved	UNSOLVED			2017-08-18
exon 8	c.755A>G	p.Asn252Ser	Uncertain significance (VOUS)	PROVISIONAL			2013-08-16
exon 8	c.764T>C	p.Leu255Pro	Uncertain significance (VOUS)	VALIDATED			2013-02-05
intron 8	c.768+23G>C	-	Likely benign	VALIDATED			2004-12-16
intron 8	c.769-103C>T	-	Likely benign	VALIDATED			2005-12-29
intron 8	c.769-97G>A	-	Likely benign	VALIDATED			2012-12-21
intron 8	c.769-38C>T	-	Likely benign	VALIDATED			2003-09-18
intron 8	c.769-7T>G	-	Likely benign	VALIDATED			2004-03-08
intron 8	c.769-7_769-6dup	-	Likely benign	PROVISIONAL			2005-01-26
exon 9	c.780C>A	p.(=)	Likely benign	VALIDATED			2003-07-22
exon 9	c.782T>C	p.Val261Ala	Likely pathogenic	PROVISIONAL			2011-12-07
exon 9	c.784G>C	p.Ala262Pro	Unsolved	UNSOLVED			2011-03-17
exon 9	c.789C>A	p.(=)	Likely benign	VALIDATED			2013-08-27
exon 9	c.790C>T	p.Leu264Phe	Likely pathogenic	PROVISIONAL			2003-07-21
exon 9	c.790del	p.Leu264Serfs*2	Pathogenic	VALIDATED			2013-02-05
exon 9	c.794T>C	p.Leu265Pro	Pathogenic	VALIDATED			2003-07-21
exon 9	c.794T>G	p.Leu265Arg	Pathogenic	VALIDATED			2004-10-05
exon 9	c.803T>C	p.Ile268Thr	Pathogenic	VALIDATED			2002-02-05
exon 9	c.805G>C	p.Asp269His	Uncertain significance (VOUS)	VALIDATED			2012-01-30
exon 9	c.815C>T	p.Ser272Phe	Likely pathogenic	VALIDATED			2003-07-21
exon 9	c.829C>T	p.Arg277Cys	Pathogenic	VALIDATED			2003-07-22
exon 9	c.829C>G	p.Arg277Gly	Likely pathogenic	VALIDATED			2014-03-31
exon 9	c.830G>A	p.Arg277His	Likely pathogenic	VALIDATED			2006-01-04
exon 9	c.831C>T	p.(=)	Benign	VALIDATED			2006-04-27
exon 9	c.833T>C	p.Val278Ala	Likely pathogenic	PROVISIONAL			2012-02-20
exon 9	c.836T>C	p.Leu279Pro	Likely pathogenic	VALIDATED			2013-02-05
exon 9	c.850del	p.Glu284Lysfs*17	Pathogenic	VALIDATED			2013-08-30
exon 9	c.852dup	p.Ala285Serfs*15	Not classified	Not validated			2013-07-11
exon 9	c.857C>T	p.Pro286Leu	Uncertain significance (VOUS)	VALIDATED			2008-02-26
exon 9	c.863C>T	p.Pro288Leu	Uncertain significance (VOUS)	PROVISIONAL			2006-05-02
exon 9	c.871T>G	p.Tyr291Asp	Likely pathogenic	VALIDATED			2013-02-05
exon 9	c.877G>A	p.Val293Met	Uncertain significance (VOUS)	VALIDATED			2006-05-02
intron 9	c.885+24G>A	-	Likely benign	VALIDATED			2003-07-25
intron 9	c.885+117C>A	-	Likely benign	VALIDATED			2017-09-05
intron 9	c.886-1G>A	-	Likely pathogenic	VALIDATED			2011-09-01
exon 10	c.893T>C	p.Ile298Thr	Likely pathogenic	VALIDATED			2011-03-04
exon 10	c.895G>A	p.Asp299Asn	Not classified	Not validated			2018-04-03
exon 10	c.902A>C	p.Asn301Thr	Pathogenic	VALIDATED			2003-07-22
exon 10	c.924C>T	p.(=)	Likely benign	VALIDATED			2004-12-16
exon 10	c.925G>A	p.Gly309Ser	Pathogenic	VALIDATED			2002-02-05
exon 10	c.928G>A	p.Val310Met	Pathogenic	VALIDATED			2003-07-22
exon 10	c.928G>T	p.Val310Leu	Likely pathogenic	VALIDATED			2011-03-04
exon 10	c.931G>C	p.Gly311Arg	Likely pathogenic	VALIDATED			2014-04-17
exon 10	c.935A>G	p.His312Arg	Unsolved	UNSOLVED			2013-02-05
exon 10	c.942T>C	p.(=)	Likely benign	VALIDATED			2013-08-16
exon 10	c.943C>G	p.Leu315Val	Uncertain significance (VOUS)	VALIDATED			2013-02-05
exon 10	c.943_944del	p.Leu315Glyfs*51	Likely pathogenic	VALIDATED			2013-08-16
exon 10	c.956G>C	p.Cys319Ser	Unsolved	UNSOLVED			2011-05-26
exon 10	c.962T>C	p.Val321Ala	Likely pathogenic	PROVISIONAL			2011-03-04
exon 10	c.965C>G	p.Thr322Ser	Likely pathogenic	VALIDATED			2006-09-21
exon 10	c.975C>T	p.(=)	Likely benign	VALIDATED			2013-08-16
exon 10	c.976G>A	p.Gly326Arg	Likely pathogenic	PROVISIONAL			2002-02-06
exon 10	c.986G>A	p.Ser329Asn	Likely pathogenic	VALIDATED			2005-10-06
exon 10	c.987C>A	p.Ser329Arg	Likely pathogenic	PROVISIONAL			2003-09-23
exon 10	c.999C>T	p.(=)	Likely benign	VALIDATED			2013-08-16
exon 10	c.1000G>A	p.Ala334Thr	Pathogenic	VALIDATED			2003-07-21
exon 10	c.1004G>A	p.Gly335Asp	Likely pathogenic	VALIDATED			2011-03-04
exon 10	c.1004G>C	p.Gly335Ala	Unsolved	UNSOLVED			2013-02-05
exon 10	c.1005C>T	p.(=)	Likely benign	VALIDATED			2006-05-02
exon 10	c.1006G>A	p.Gly336Ser	Likely pathogenic	VALIDATED			2006-05-02
exon 10	c.1013G>A	p.Gly338Asp	Likely pathogenic	VALIDATED			2011-03-04
exon 10	c.1025C>T	p.(Thr342Ile)	Likely pathogenic	Not validated			2019-02-08
exon 10	c.1028T>C	p.Leu343Pro	Likely pathogenic	VALIDATED			2013-09-25
intron 10	c.1039+1G>T	p.Glu296Glyfs*14	Likely pathogenic	VALIDATED			2006-08-02
intron 10	c.1039+2T>C	p.Leu348Ilefs*17	Likely pathogenic	VALIDATED			2013-02-05
intron 10	c.1039+7C>T	-	Likely benign	VALIDATED			2017-09-05
intron 10	c.1040-1G>A	-	Likely pathogenic	VALIDATED			2011-03-04
exon 11	c.1058_1071del	p.Pro353Leufs*3	Not classified	Not validated			2013-07-11
exon 11	c.1067C>T	p.Thr356Met	Uncertain significance (VOUS)	VALIDATED			2004-12-16
exon 11	c.1071del	p.Lys357Asnfs*4	Likely pathogenic	VALIDATED			2012-01-30
exon 11	c.1085G>T	p.Ser362Ile	Likely pathogenic	VALIDATED			2012-10-02
exon 11	c.1094T>C	p.Phe365Ser	Likely pathogenic	VALIDATED			2013-02-05
exon 11	c.1095_1098del	p.Asp366Alafs*110	Likely pathogenic	VALIDATED			2006-09-21
exon 11	c.1100G>C	p.Cys367Ser	Uncertain significance (VOUS)	VALIDATED			2006-05-02
exon 11	c.1116C>G	p.Ile372Met	Uncertain significance (VOUS)	VALIDATED			2013-08-30
exon 11	c.1126G>A	p.Gly376Ser	Likely pathogenic	VALIDATED			2011-03-04
exon 11	c.1127G>T	p.Gly376Val	Likely pathogenic	VALIDATED			2004-12-16
exon 11	c.1129G>A	p.Val377Ile	Pathogenic	VALIDATED			2002-02-05
exon 11	c.1132T>C	p.Ser378Pro	Likely pathogenic	PROVISIONAL			2005-03-07
exon 11	c.1136T>A	p.Ile379Asn	Likely pathogenic	VALIDATED			2011-03-04
exon 11	c.1139A>G	p.His380Arg	Likely pathogenic	VALIDATED			2003-08-29
exon 11	c.1144G>C	p.Ala382Pro	Uncertain significance (VOUS)	PROVISIONAL			2012-12-03
exon 11	c.1151C>T	p.Ser384Phe	Uncertain significance (VOUS)	PROVISIONAL			2009-10-16
exon 11	c.1156G>A	p.Asp386Asn	Uncertain significance (VOUS)	VALIDATED			2008-02-26
exon 11	c.1162C>T	p.Arg388*	Pathogenic	VALIDATED			2006-05-10
exon 11	c.1168C>T	p.Gln390*	Not classified	Not validated			2018-04-03
exon 11	c.1169A>C	p.Gln390Pro	Likely pathogenic	VALIDATED			2011-03-04
exon 11	c.1189T>C	p.397Argext34	Pathogenic	VALIDATED			2012-06-13
3UT	c.*11C>T	-	Uncertain significance (VOUS)	VALIDATED			2004-12-16
3UT	c.*35C>T	-	Likely benign	VALIDATED			2017-09-05
3UT	c.*54_55insG	-	Not classified	Not validated			2002-05-27

MVK (NM_000431.3) sequence variants