MEFV (NM_000243.2) sequence variants

Editor(s): Isabelle TOUITOU   

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Total current number of sequence variants for MEFV : 365

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

**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
Usual name*
Classification**
Status**
Simple variant
Complex alleles
5 flanking
c.-979T>C
-
-979T>C
Not classifiedTo be validated
 2014-03-10
5 flanking
c.-888G>A
-
-888G>A
Not classifiedTo be validated
 2010-04-16
5 flanking
c.-792C>T
-
-792C>T
Not classifiedTo be validated
 2007-01-08
5 flanking
c.-751A>G
-
-751A>G
Not classifiedTo be validated
 2007-01-08
5 flanking
c.-740C>T
-
-740C>T
Not classifiedTo be validated
 2007-01-08
5 flanking
c.-614C>G
-
-614C>G
Not classifiedTo be validated
 2007-01-08
5 flanking
c.-382C>G
-
-382C>G
Not classifiedTo be validated
 2007-01-08
5 flanking
c.-330G>A
-
-330G>A
Not classifiedTo be validated
 2007-01-08
5 flanking
c.-170G>A
-
-170G>A
Not classifiedTo be validated
 2013-02-05
5UT
c.-12C>G
-
-12C>G
Uncertain significance (VUS)VALIDATED
 2005-12-29
exon 1
c.-40_*1113dup
p.(Met1_Ter782dup)
chr16:g.3320350_3256171dup
Not classifiedTo be validated
 2019-07-25
exon 1
c.25C>T
p.(=)
L9L
Likely benignVALIDATED
 2005-12-29
exon 1
c.35C>T
p.(Thr12Ile)
T12I
UnsolvedUNSOLVED
 2013-05-06
exon 1
c.56A>G
p.(Tyr19Cys)
Y19C
UnsolvedUNSOLVED
 2013-05-06
exon 1
c.74A>G
p.(Lys25Arg)
K25R
Likely pathogenicPROVISIONAL
 2013-05-06
exon 1
c.82C>G
p.(Leu28Val)
L28V
Uncertain significance (VUS)To be validated
 2019-05-13
exon 1
c.104A>G
p.(Lys35Arg)
K35R
Not classifiedTo be validated
 2019-05-13
exon 1
c.115A>G
p.(Arg39Gly)
R39G
Likely pathogenicPROVISIONAL
 2013-05-06
exon 1
c.124C>T
p.(Arg42Trp)
R42W
UnsolvedUNSOLVED
 2001-12-11
exon 1
c.171G>A
p.(=)
L57L
Likely benignVALIDATED
 2014-03-11
exon 1
c.184G>T
p.(Gly62Trp)
G62W
Not classifiedTo be validated
 2017-11-23
exon 1
c.195C>T
p.(=)
Y65Y
Likely benignVALIDATED
 2001-12-11
exon 1
c.200T>A
p.(Val67Glu)
V67E
Uncertain significance (VUS)To be validated
 2019-07-11
exon 1
c.224G>A
p.(Arg75Gln)
R75Q
Likely benignTo be validated
 2019-07-16
exon 1
c.250G>A
p.(Glu84Lys)
E84K
Likely pathogenicPROVISIONAL
 2010-04-23
exon 1
c.265G>A
p.(Ala89Thr)
A89T
Likely pathogenicPROVISIONAL
 2004-09-01
exon 2
c.289C>A
p.(Gln97Lys)
Q97K
Uncertain significance (VUS)VALIDATED
 2011-01-04
exon 2
c.289C>T
p.(Gln97*)
Q97X
Likely pathogenicVALIDATED
 2013-05-06
exon 2
c.290A>G
p.(Gln97Arg)
Q97R
Uncertain significance (VUS)VALIDATED
 2013-03-07
exon 2
c.297C>T
p.(=)
N99N
Likely benignVALIDATED
 2007-03-15
exon 2
c.306T>C
p.(=)
D102D
BenignVALIDATED
 2001-12-24
exon 2
c.309T>C
p.(=)
D103D
Likely benignVALIDATED
 2001-12-11
exon 2
c.314C>A
p.(Ala105Glu)
A105E
Uncertain significance (VUS)VALIDATED
 2013-06-28
exon 2
c.322A>C
p.(Ser108Arg)
S108R
Uncertain significance (VUS)VALIDATED
 2002-02-12
exon 2
c.322A>G
p.(Ser108Gly )
S108G
Uncertain significance (VUS)VALIDATED
 2017-08-18
exon 2
c.329T>C
p.(Leu110Pro)
L110P
Uncertain significance (VUS)VALIDATED
2001-12-11
exon 2
c.330G>A
p.(=)
L110L
Likely benignVALIDATED
 2007-05-17
exon 2
c.331G>A
p.(Gly111Arg)
G111R
Uncertain significance (VUS)VALIDATED
 2012-10-01
exon 2
c.332G>A
p.(Gly111Glu)
G111E
Uncertain significance (VUS)VALIDATED
 2011-09-05
exon 2
c.333G>A
p.(=)
G111G
Likely benignVALIDATED
 2007-02-07
exon 2
c.334dupG
p.(Glu112Glyfs*130)
334_335insG
UnsolvedUNSOLVED
 2002-10-15
exon 2
c.343C>A
p.(Pro115Thr)
P115T
Likely benignPROVISIONAL
 2014-01-20
exon 2
c.344C>G
p.(Pro115Arg)
P115R
Uncertain significance (VUS)To be validated
 2019-07-11
exon 2
c.359C>T
p.(Thr120Ile)
T120I
Likely benignVALIDATED
 2013-08-22
exon 2
c.369C>A
p.(His123Gln)
H123Q
Uncertain significance (VUS)PROVISIONAL
 2014-11-27
exon 2
c.372C>T
p.(=)
P124P
Likely benignVALIDATED
 2001-12-11
exon 2
c.375G>A
p.(=)
E125E
Likely benignVALIDATED
 2005-10-06
exon 2
c.382_390del
p.(Glu128_Asn130del)
E128_N130del
Likely pathogenicPROVISIONAL
 2016-01-21
exon 2
c.383_391dup
p.(Glu128_Asn130dup)
390_391insGAGGGGAAC
Likely pathogenicPROVISIONAL
 2004-02-05
exon 2
c.390C>T
p.(=)
N130N
Likely benignVALIDATED
 2014-09-24
exon 2
c.406G>A
p.(Gly136Arg)
G136R
Uncertain significance (VUS)VALIDATED
 2007-08-22
exon 2
c.406G>T
p.(Gly136Trp)
G136W
Uncertain significance (VUS)VALIDATED
 2012-10-01
exon 2
c.408G>A
p.(=)
G136G
Likely benignVALIDATED
 2012-10-01
exon 2
c.414A>G
p.(=)
G138G
BenignVALIDATED
 2001-12-11
exon 2
c.422G>T
p.(Ser141Ile)
S141I
Likely benignPROVISIONAL
 2005-04-19
exon 2
c.428G>C
p.(Arg143Pro)
R143P
Likely benignPROVISIONAL
 2008-02-25
exon 2
c.441dupC
p.(Glu148Argfs*94)
E148RfsX5
Not classifiedTo be validated
 2017-07-13
exon 2
c.442G>C
p.(Glu148Gln)
E148Q
Uncertain significance (VUS)VALIDATED
2001-12-11
exon 2
c.443A>T
p.(Glu148Val)
E148V
Uncertain significance (VUS)VALIDATED
 2001-12-11
exon 2
c.444G>C
p.(Glu148Asp)
E148D
Uncertain significance (VUS)PROVISIONAL
 2015-03-26
exon 2
c.450G>A
p.(=)
G150G
Likely benignVALIDATED
 2011-06-07
exon 2
c.453G>C
p.(Arg151Ser)
R151S
Uncertain significance (VUS)VALIDATED
 2008-01-14
exon 2
c.460T>C
p.(Ser154Pro)
S154P
Uncertain significance (VUS)VALIDATED
 2013-02-28
exon 2
c.464G>C
p.(Arg155Thr)
R155T
Uncertain significance (VUS)VALIDATED
 2014-04-30
exon 2
c.476G>A
p.(Ser159Asn)
S159N
Likely benignPROVISIONAL
 2012-10-02
exon 2
c.488A>C
p.(Glu163Ala)
E163A
Uncertain significance (VUS)VALIDATED
 2002-06-18
exon 2
c.489G>T
p.(Glu163Asp)
E163D
UnsolvedUNSOLVED
 2011-08-25
exon 2
c.493G>A
p.(Ala165Thr)
A165T
Uncertain significance (VUS)PROVISIONAL
 2012-10-02
exon 2
c.495C>A
p.(=)
A165A
BenignVALIDATED
 2001-12-11
exon 2
c.497C>T
p.(Ser166Leu)
S166L
Uncertain significance (VUS)PROVISIONAL
 2010-10-13
exon 2
c.498G>C
p.(=)
S166S
Likely benignVALIDATED
 2012-10-02
exon 2
c.501G>C
p.(Glu167Asp)
E167D
Likely pathogenicPROVISIONAL
2001-12-11
exon 2
c.505C>G
p.(Leu169Val)
L169V
Likely benignPROVISIONAL
 2012-10-02
exon 2
c.515A>C
p.(Gln172Pro)
Q172P
Uncertain significance (VUS)VALIDATED
 2009-06-04
exon 2
c.524C>A
p.(Pro175His)
P175H
Uncertain significance (VUS)VALIDATED
 2004-11-10
exon 2
c.530C>T
p.(Thr177Ile)
T177I
Likely benignPROVISIONAL
 2005-12-02
exon 2
c.536G>T
p.(Ser179Ile)
S179I
Uncertain significance (VUS)PROVISIONAL
 2004-09-01
exon 2
c.536G>A
p.(Ser179Asn)
S179N
Likely benignPROVISIONAL
2011-04-01
exon 2
c.539C>G
p.(Pro180Arg)
P180R
Uncertain significance (VUS)PROVISIONAL
 2005-08-16
exon 2
c.540G>C
p.(=)
P180P
Likely benignVALIDATED
 2005-08-29
exon 2
c.549G>A
p.(=)
P183P
Likely benignVALIDATED
 2012-09-20
exon 2
c.560G>A
p.(Ser187Asn)
S187N
Not classifiedTo be validated
 2018-01-11
exon 2
c.564C>T
p.(Pro188Pro)
P188P
Not classifiedTo be validated
 2018-02-16
exon 2
c.578C>T
p.(Ala193Val)
A193V
UnsolvedUNSOLVED
 2012-10-02
exon 2
c.581T>C
p.(Leu194Pro)
L194P
Likely benignPROVISIONAL
 2012-02-24
exon 2
c.585G>A
p.(=)
E195E
Likely benignVALIDATED
 2013-05-06
exon 2
c.586G>T
p.(Gly196Trp)
G196W
Uncertain significance (VUS)PROVISIONAL
 2007-06-12
exon 2
c.586G>A
p.(Gly196Arg)
G196R
Uncertain significance (VUS)PROVISIONAL
 2013-09-10
exon 2
c.589G>C
p.(Gly197Arg)
G197R
Uncertain significance (VUS)PROVISIONAL
 2011-12-13
exon 2
c.605G>A
p.(Arg202Gln)
R202Q
BenignVALIDATED
 2001-12-11
exon 2
c.608T>C
p.(Leu203Pro)
L203P
Uncertain significance (VUS)VALIDATED
 2012-10-01
exon 2
c.611G>A
p.(Arg204His)
R204H
Not classifiedTo be validated
 2019-07-11
exon 2
c.617A>G
p.(Asn206Ser)
N206S
Uncertain significance (VUS)VALIDATED
 2012-10-02
exon 2
c.618C>G
p.(Asn206Lys)
N206K
Uncertain significance (VUS)PROVISIONAL
 2013-04-18
exon 2
c.606_621dup
p.(Ser208Alafs*39)
606_621dup
Likely pathogenicPROVISIONAL
 2007-06-20
exon 2
c.622A>T
p.(Ser208Cys)
S208C
Uncertain significance (VUS)PROVISIONAL
 2012-07-03
exon 2
c.623G>C
p.(Ser208Thr)
S208T
Likely pathogenicTo be validated
 2019-03-15
exon 2
c.627C>T
p.(=)
S209S
Likely benignVALIDATED
 2010-09-29
exon 2
c.633G>A
p.(=)
G211G
Likely benignVALIDATED
 2012-07-13
exon 2
c.653G>C
p.(Gly218Ala)
G218A
Uncertain significance (VUS)VALIDATED
 2012-10-02
exon 2
c.657C>T
p.(=)
G219G
Likely benignVALIDATED
 2007-08-10
exon 2
c.663G>C
p.(=)
P221P
Likely benignVALIDATED
 2006-04-27
exon 2
c.664G>A
p.(Gly222Arg)
G222R
Uncertain significance (VUS)PROVISIONAL
 2012-10-02
exon 2
c.670_672delAAG
p.(Lys224del)
K224del
Likely pathogenicTo be validated
 2019-07-16
exon 2
c.674A>G
p.(Glu225Gly)
E225G
Uncertain significance (VUS)VALIDATED
 2011-09-01
exon 2
c.675G>C
p.(Glu225Asp)
E225D
UnsolvedUNSOLVED
 2007-07-03
exon 2
c.688G>A
p.(Glu230Lys)
E230K
Uncertain significance (VUS)VALIDATED
 2001-12-11
exon 2
c.688G>C
p.(Glu230Gln)
E230Q
Likely benignPROVISIONAL
 2013-06-29
exon 2
c.694T>C
p.(Tyr232His)
Y232H
Likely benignPROVISIONAL
 2009-02-10
exon 2
c.698_700dupTGC
p.(Leu233dup)
c.698_700dupTGC
Not classifiedTo be validated
 2016-12-21
exon 2
c.702C>T
p.(=)
P234P
Likely benignVALIDATED
 2012-10-01
exon 2
c.704C>T
p.(Ser235Leu)
S235L
Not classifiedTo be validated
 2019-05-13
exon 2
c.707G>T
p.(Gly236Val)
G236V
UnsolvedUNSOLVED
 2006-02-23
exon 2
c.714G>T
p.(Met238Ile)
M238I
Uncertain significance (VUS)PROVISIONAL
 2014-10-07
exon 2
c.717A>T
p.(=)
R239R
Likely benignVALIDATED
 2012-10-02
exon 2
c.722G>A
p.(Arg241Lys)
R241K
Likely benignPROVISIONAL
 2011-03-25
exon 2
c.726C>T
p.(=)
S242S
Likely benignVALIDATED
 2004-11-26
exon 2
c.726C>G
p.(Ser242Arg)
S242R C>G
Likely pathogenicVALIDATED
 2007-05-17
exon 2
c.726C>A
p.(Ser242Arg)
S242R C>A
Likely pathogenicVALIDATED
 2008-09-12
exon 2
c.730G>A
p.(Glu244Lys)
E244K
Not classifiedTo be validated
 2018-07-26
exon 2
c.739A>G
p.(Ile247Val)
I247V
Likely benignPROVISIONAL
 2011-03-15
exon 2
c.745A>G
p.(Thr249Ala)
T249A
Uncertain significance (VUS)To be validated
 2019-07-11
exon 2
c.751G>A
p.(Glu251Lys)
E251K
Uncertain significance (VUS)VALIDATED
 2002-12-20
exon 2
c.761_764dupCCGC
p.(Asn256Argfs*70)
761_764dup
Likely pathogenicPROVISIONAL
 2005-08-29
exon 2
c.770C>T
p.(Pro257Leu)
P257L
Uncertain significance (VUS)To be validated
 2019-07-11
exon 2
c.775A>G
p.(Ile259Val)
I259V
Likely benignPROVISIONAL
 2005-12-29
exon 2
c.796A>G
p.(Lys266Glu)
K266E
Likely benignPROVISIONAL
 2013-11-06
exon 2
c.800C>T
p.(Thr267Ile)
T267I
Likely pathogenicVALIDATED
 2001-12-11
exon 2
c.803C>T
p.(Ala268Val)
A268V
Likely benignPROVISIONAL
 2004-08-19
exon 2
c.808A>G
p.(Asn270Asp)
N270D
Likely benignPROVISIONAL
 2013-09-10
exon 2
c.818C>T
p.(Ser273Leu)
S273L
Likely benignPROVISIONAL
 2014-03-11
exon 2
c.829C>A
p.(Pro277Thr)
P277T
Likely benignPROVISIONAL
 2011-04-14
exon 2
c.833G>C
p.(Arg278Pro)
R278P
Likely benignPROVISIONAL
 2008-01-21
exon 2
c.848C>G
p.(Pro283Arg)
P283R
Uncertain significance (VUS)VALIDATED
 2003-12-09
exon 2
c.848C>T
p.(Pro283Leu)
P283L
Uncertain significance (VUS)VALIDATED
 2005-05-23
exon 2
c.863C>A
p.(Ser288Tyr)
S288Y
Uncertain significance (VUS)VALIDATED
 2013-06-29
exon 2
c.866C>T
p.(Ala289Val)
A289V
Uncertain significance (VUS)PROVISIONAL
 2005-06-07
exon 2
c.866C>A
p.(Ala289Glu)
A289E
Uncertain significance (VUS)VALIDATED
 2013-06-28
exon 2
c.896A>G
p.(Glu299Gly)
E299G
Likely benignPROVISIONAL
 2006-10-17
exon 2
c.910G>A
p.(Gly304Arg)
G304R
Likely benignVALIDATED
 2002-12-20
intron 2
c.910+29C>T
-
c.910+29C>T
Likely benignVALIDATED
 2008-01-21
intron 2
c.911-78T>C
-
911-78T>C
Likely benignVALIDATED
 2007-01-06
intron 2
c.911-22T>G
-
c.911-22T>G
Likely benignVALIDATED
 2008-01-23
intron 2
c.911-12G>A
-
c.911-12G>A
Likely benignVALIDATED
 2017-09-05
exon 3
c.921A>G
p.(=)
P307P
Likely benignVALIDATED
 2013-05-06
exon 3
c.926C>T
p.(Thr309Met)
T309M
Uncertain significance (VUS)PROVISIONAL
 2006-01-18
exon 3
c.938C>A
p.(Pro313His)
P313H
Likely pathogenicTo be validated
 2019-07-01
exon 3
c.940C>T
p.(Arg314Cys)
R314C
Uncertain significance (VUS)PROVISIONAL
 2011-04-14
exon 3
c.941G>A
p.(Arg314His)
R314H
UnsolvedUNSOLVED
 2008-12-23
exon 3
c.942C>T
p.(=)
R314R
BenignVALIDATED
 2001-12-11
exon 3
c.949G>A
p.(Ala317Thr)
A317T
Likely benignPROVISIONAL
 2010-08-26
exon 3
c.955G>A
p.(Glu319Lys)
E319K
UnsolvedUNSOLVED
 2002-10-21
exon 3
c.983T>C
p.(Val328Ala)
V328A
UnsolvedUNSOLVED
 2008-12-11
exon 3
c.986G>A
p.(Arg329His)
R329H
Likely benignVALIDATED
 2002-12-20
exon 3
c.1012G>C
p.(Val338Leu)
V338L
Uncertain significance (VUS)PROVISIONAL
 2014-02-20
exon 3
c.1016C>T
p.(Ser339Phe)
S339F
UnsolvedUNSOLVED
 2006-01-23
exon 3
c.1043G>A
p.(Arg348His)
R348H
UnsolvedUNSOLVED
 2008-10-12
exon 3
c.1048C>T
p.(Pro350Ser)
P350S
Uncertain significance (VUS)VALIDATED
 2015-01-06
exon 3
c.1049C>G
p.(Pro350Arg)
P350R
Uncertain significance (VUS)VALIDATED
 2010-03-18
exon 3
c.1056C>T
p.(=)
C352C
Likely benignVALIDATED
 2006-07-17
exon 3
c.1057C>G
p.(Pro353Ala)
P353A
Not classifiedTo be validated
 2017-10-30
exon 3
c.1060C>T
p.(Arg354Trp)
R354W
Likely pathogenicPROVISIONAL
 2003-09-08
exon 3
c.1082G>C
p.(Arg361Thr)
R361T
Uncertain significance (VUS)PROVISIONAL
 2014-11-18
exon 3
c.1088G>A
p.(Ser363Asn)
S363N
Uncertain significance (VUS)PROVISIONAL
 2014-02-25
exon 3
c.1089C>T
p.(=)
S363S
Likely benignVALIDATED
 2007-01-06
exon 3
c.1091C>T
p.(Pro364Leu)
P364L
Uncertain significance (VUS)PROVISIONAL
 2009-10-19
exon 3
c.1092G>T
p.(Pro364Pro)
P364P
Likely benignVALIDATED
 2017-09-05
exon 3
c.1099C>G
p.(Leu367Val)
L367V
Not classifiedTo be validated
 2017-01-25
exon 3
c.1105C>T
p.(Pro369Ser)
P369S
Uncertain significance (VUS)VALIDATED
2001-12-11
exon 3
c.1115T>C
p.(Leu372Pro)
L372P
Likely pathogenicPROVISIONAL
 2013-07-15
exon 3
c.1118C>T
p.(Pro373Leu)
P373L
Uncertain significance (VUS)VALIDATED
 2013-09-10
exon 3
c.1127A>G
p.(Lys376Arg)
K376R
Likely benignPROVISIONAL
 2013-02-05
exon 3
c.1147C>A
p.(Gln383Lys)
Q383K
Uncertain significance (VUS)VALIDATED
 2008-01-21
exon 3
c.1151T>C
p.(Leu384Pro)
L384P
Likely pathogenicPROVISIONAL
 2013-05-06
exon 3
c.1166A>T
p.(Asp389Val)
D389V
Likely pathogenicPROVISIONAL
 2015-06-02
exon 3
c.1171G>A
p.(Asp391Asn)
D391N
Likely benignPROVISIONAL
 2013-05-06
exon 3
c.1179C>T
p.(=)
P393P
Likely benignVALIDATED
 2001-12-11
exon 3
c.1207G>A
p.(Glu403Lys)
E403K
Likely pathogenicPROVISIONAL
 2011-05-25
exon 3
c.1211A>G
p.(His404Arg)
H404R
Not classifiedTo be validated
 2017-01-25
exon 3
c.1223G>A
p.(Arg408Gln)
R408Q
Uncertain significance (VUS)PROVISIONAL
2001-12-11
exon 3
c.1229G>A
p.(Arg410His)
c.1229G>A
Not classifiedTo be validated
 2018-03-29
exon 3
c.1245C>T
p.(=)
V415V
Likely benignVALIDATED
 2008-08-05
intron 3
c.1260+10C>T
-
1260+10C>T
Likely benignVALIDATED
 2005-08-25
intron 3
c.1260+18C>G
-
1260+18C>G
Not classifiedTo be validated
 2005-08-25
intron 3
c.1260+92G>A
-
c.1260+92G>A
Likely benignVALIDATED
 2009-04-14
intron 3
c.1261-28A>G
-
1261-28A>G
Likely benignVALIDATED
 2005-09-01
intron 3
c.1261-11T>G
-
1261-11T>G
Likely benignVALIDATED
 2007-01-06
exon 4
c.1267A>G
p.(Ile423Val)
I423V
Uncertain significance (VUS)PROVISIONAL
 2005-12-29
exon 4
c.1268T>C
p.(Ile423Thr)
I423T
Not classifiedTo be validated
 2018-02-12
exon 4
c.1277A>G
p.(Gln426Arg)
Q426R
Uncertain significance (VUS)VALIDATED
 2012-12-07
exon 4
c.1318C>G
p.(Gln440Glu)
Q440E
Likely benignVALIDATED
 2007-03-28
exon 4
c.1324T>A
p.(Ser442Thr)
S442T
Uncertain significance (VUS)To be validated
 2019-05-13
intron 4
c.1356+44A>G
-
1356+44A>G
Likely benignVALIDATED
 2005-12-19
intron 4
c.1356+98C>T
-
1356+98C>T
Likely benignVALIDATED
 2011-09-09
exon 5
c.1368A>C
p.(Glu456Asp)
E456D
UnsolvedUNSOLVED
 2010-03-18
exon 5
c.1370C>T
p.(Ala457Val)
A457V
Likely benignPROVISIONAL
 2006-01-03
exon 5
c.1371G>A
p.(Ala457Ala)
A457A
Likely benignVALIDATED
 2017-09-05
exon 5
c.1404G>A
p.(=)
Q468Q
UnsolvedUNSOLVED
 2013-05-06
exon 5
c.1405G>T
p.(Val469Leu)
V469L
Likely benignPROVISIONAL
 2007-03-02
exon 5
c.1413C>A
p.(Tyr471*)
Y471X
Likely pathogenicPROVISIONAL
 2009-03-30
exon 5
c.1420G>A
p.(Glu474Lys)
E474K
Uncertain significance (VUS)VALIDATED
 2002-02-15
exon 5
c.1422G>A
p.(=)
E474E
BenignVALIDATED
 2001-12-11
exon 5
c.1428A>G
p.(=)
Q476Q
BenignVALIDATED
 2001-12-11
exon 5
c.1432C>T
p.(His478Tyr)
H478Y
Uncertain significance (VUS)VALIDATED
 2002-06-18
exon 5
c.1437C>G
p.(Phe479Leu)
F479L
Likely pathogenicVALIDATED
2001-12-11
exon 5
c.1450C>A
p.(Leu484Met)
L484M
Not classifiedTo be validated
 2018-07-09
exon 5
c.1459G>A
p.(Val487Met)
V487M
Uncertain significance (VUS)PROVISIONAL
 2002-01-17
exon 5
c.1459G>C
p.(Val487Leu)
V487L
UnsolvedUNSOLVED
 2017-08-21
exon 5
c.1467G>A
p.(=)
Q489Q
Likely benignVALIDATED
 2005-07-26
exon 5
c.1484G>A
p.(Arg495Lys)
R495K
Uncertain significance (VUS)To be validated
 2019-07-16
exon 5
c.1501C>G
p.(Arg501Gly)
R501G
Uncertain significance (VUS)PROVISIONAL
 2002-01-17
exon 5
c.1501C>T
p.(Arg501Cys)
R501C
Likely pathogenicPROVISIONAL
 2011-04-01
exon 5
c.1502G>A
p.(Arg501His)
R501H
Likely benignVALIDATED
 2008-09-04
exon 5
c.1503C>T
p.(=)
R501R
Likely benignVALIDATED
 2001-12-24
exon 5
c.1508C>G
p.(Ser503Cys)
S503C
Likely pathogenicVALIDATED
 2010-03-18
exon 5
c.1514A>G
p.(Asp505Gly)
D505G
Uncertain significance (VUS)VALIDATED
 2013-05-06
exon 5
c.1516A>G
p.(Ile506Val)
I506V
Likely benignVALIDATED
 2008-01-14
exon 5
c.1518C>T
p.(=)
I506I
Likely benignVALIDATED
 2001-12-24
exon 5
c.1528G>A
p.(Asp510Asn)
D510N
Uncertain significance (VUS)VALIDATED
 2014-10-21
exon 5
c.1530T>C
p.(=)
D510D
BenignVALIDATED
 2001-12-22
exon 5
c.1532C>T
p.(Ala511Val)
A511V
Uncertain significance (VUS)PROVISIONAL
 2010-07-06
exon 5
c.1532C>A
p.(Ala511Glu)
A511E
Uncertain significance (VUS)VALIDATED
 2015-08-11
exon 5
c.1538T>C
p.(Ile513Thr)
I513T
UnsolvedUNSOLVED
 2008-10-12
exon 5
c.1541G>A
p.(Gly514Glu)
G514E
Uncertain significance (VUS)PROVISIONAL
 2006-10-17
exon 5
c.1559A>T
p.(Glu520Val)
E520V
Not classifiedTo be validated
 2017-11-14
intron 5
c.1587+18C>T
-
1587+18C>T
Likely benignVALIDATED
 2006-05-29
intron 5
c.1587+29G>T
-
c.1587+29G>T
Likely benignVALIDATED
 2009-03-11
intron 5
c.1587+33C>G
-
1587+33C>G
Likely benignVALIDATED
 2004-09-20
intron 5
c.1588-69G>A
-
c.1588-69G>A
Likely benignVALIDATED
 2008-01-23
intron 5
c.1588-17C>G
-
c.1588-17C>G
Likely benignVALIDATED
 2017-09-05
intron 6
c.1610+47A>T
-
c.1610+47A>T
Likely benignVALIDATED
 2008-01-21
intron 6
c.1610+96C>T
-
1610+96C>T
Likely benignVALIDATED
 2006-05-09
exon 7
c.1617G>T
p.(Lys539Asn)
K539N
Uncertain significance (VUS)To be validated
 2019-07-11
exon 7
c.1648C>G
p.(Pro550Ala)
P550A
Uncertain significance (VUS)PROVISIONAL
 2012-07-23
exon 7
c.1656G>C
p.(Glu552Asp)
E552D
Uncertain significance (VUS)PROVISIONAL
 2017-08-16
exon 7
c.1675C>T
p.(Leu559Phe)
L559F
UnsolvedUNSOLVED
 2003-01-13
intron 7
c.1727-58T>C
-
1727-58T>C
Likely benignVALIDATED
 2006-02-07
exon 8
c.1729A>T
p.(Thr577Ser)
T577SAT
Likely pathogenicPROVISIONAL
 2008-03-03
exon 8
c.1729A>G
p.(Thr577Ala)
T577A
Likely pathogenicPROVISIONAL
 2013-05-04
exon 8
c.1730C>A
p.(Thr577Asn)
T577N
Likely pathogenicVALIDATED
 2013-05-04
exon 8
c.1730C>G
p.(Thr577Ser)
T577SCG
Likely pathogenicVALIDATED
 2013-05-04
exon 8
c.1744A>C
p.(Met582Leu)
M582L
Likely benignPROVISIONAL
 2006-07-17
intron 8
c.1759+8C>T
-
IVS8+8 C-T
Likely benignVALIDATED
 2003-12-11
intron 8
c.1759+76_1759+77insC
-
c.1759+76_1759+77insC
UnsolvedUNSOLVED
 2017-09-05
intron 8
c.1760-30T>A
-
1760-30A>T
Likely benignVALIDATED
 2006-03-17
intron 8
c.1760-28T>A
-
1760-28T>A
Likely benignVALIDATED
 2007-01-06
intron 8
c.1760-5C>T
-
c.1760-5C>T
Likely benignVALIDATED
 2013-05-06
intron 8
c.1760-4G>A
-
1760-4G>A
Likely benignVALIDATED
 2005-09-01
exon 9
c.1764G>A
p.(=)
P588P
BenignVALIDATED
 2001-12-22
exon 9
c.1772T>C
p.(Ile591Thr)
I591T
Uncertain significance (VUS)PROVISIONAL
 2001-12-22
exon 9
c.1773T>G
p.(Ile591Met)
I591M
Likely benignTo be validated
 2019-07-11
exon 9
c.1776C>T
p.(=)
G592G
Likely benignVALIDATED
 2006-04-06
exon 9
c.1784C>T
p.(Ala595Val)
A595V
Uncertain significance (VUS)PROVISIONAL
 2008-02-25
exon 9
c.1792G>A
p.(Val598Ile)
c.1792G>A
Not classifiedTo be validated
 2018-03-29
intron 9
c.1792+8C>T
-
c.1792+8C>T
UnsolvedUNSOLVED
 2017-09-05
intron 9
c.1792+39G>A
-
1792+39 G>A
Likely benignVALIDATED
 2007-03-15
intron 9
c.1792+57C>T
-
IVS9+57C>T
Likely benignVALIDATED
 2005-12-29
intron 9
c.1793-14A>G
-
1793-14A>G
Likely benignVALIDATED
 2005-09-01
exon 10
c.1795A>G
p.(Asn599Asp)
N599D
Uncertain significance (VUS)VALIDATED
 2009-06-04
exon 10
c.1806G>T
p.(=)
L602L
Likely benignVALIDATED
 2009-08-21
exon 10
c.1818C>T
p.(=)
T606T
Likely benignVALIDATED
 2009-08-04
exon 10
c.1827C>G
p.(=)
P609P
Likely benignVALIDATED
 2005-08-25
exon 10
c.1876T>A
p.(Trp626Arg)
W626R
Not classifiedTo be validated
 2017-10-06
exon 10
c.1883G>A
p.(Arg628Lys )
R628K
Likely benignPROVISIONAL
 2012-08-27
exon 10
c.1886dup
p.(Pro630Alafs*2)
P630AfsX2
Uncertain significance (VUS)PROVISIONAL
 2015-02-06
exon 10
c.1894G>A
p.(Gly632Ser)
G632S
UnsolvedUNSOLVED
 2004-12-22
exon 10
c.1895G>C
p.(Gly632Ala)
G632A
Likely benignPROVISIONAL
 2010-06-29
exon 10
c.1910A>G
p.(Asp637Gly)
D637G
UnsolvedUNSOLVED
 2013-06-28
exon 10
c.1920C>G
p.(Ile640Met)
I640M
Uncertain significance (VUS)VALIDATED
2003-08-01
exon 10
c.1921A>T
p.(Ile641Phe)
I641F
Uncertain significance (VUS)PROVISIONAL
 2005-12-29
exon 10
c.1925T>C
p.(Val642Ala)
V642A
Not classifiedTo be validated
 2019-08-21
exon 10
c.1937C>T
p.(Pro646Leu)
P646L
Uncertain significance (VUS)PROVISIONAL
 2002-08-22
exon 10
c.1938G>A
p.(=)
P646P
Likely benignVALIDATED
 2006-03-17
exon 10
c.1945C>T
p.(Leu649Phe)
L649F
Not classifiedTo be validated
 2019-07-18
exon 10
c.1946T>C
p.(Leu649Pro)
L649P
Uncertain significance (VUS)PROVISIONAL
 2002-08-22
exon 10
c.1949C>A
p.(Ser650Tyr)
S650Y
Likely pathogenicVALIDATED
 2013-06-29
exon 10
c.1954C>T
p.(Arg652Cys)
R652C
Uncertain significance (VUS)VALIDATED
 2013-03-25
exon 10
c.1955G>A
p.(Arg652His)
R652H
Uncertain significance (VUS)PROVISIONAL
 2012-07-23
exon 10
c.1956C>A
p.(=)
R652R
Likely benignVALIDATED
 2001-12-22
exon 10
c.1957C>A
p.(Arg653Ser)
R653S
Uncertain significance (VUS)To be validated
 2019-05-13
exon 10
c.1958G>A
p.(Arg653His)
R653H
Uncertain significance (VUS)PROVISIONAL
2001-12-22
exon 10
c.1967A>C
p.(Glu656Ala)
E656A
Likely pathogenicVALIDATED
 2001-12-22
exon 10
c.1975G>T
p.(Val659Phe)
V659F
Likely pathogenicPROVISIONAL
 2009-06-12
exon 10
c.1981G>A
p.(Asp661Asn)
D661N
UnsolvedUNSOLVED
 2003-12-11
exon 10
c.1981G>T
p.(Asp661Tyr)
D661Y
Not classifiedTo be validated
 2018-12-14
exon 10
c.1984_1985delAA
p.(Lys662Aspfs*36)
K662Dfs*36
Likely pathogenicTo be validated
 2019-03-13
exon 10
c.1996A>G
p.(Ile666Val)
I666V
Likely benignPROVISIONAL
 2013-06-29
exon 10
c.2002G>A
p.(Gly668Arg)
G668R
Likely pathogenicTo be validated
 2019-07-16
exon 10
c.2012A>T
p.(Lys671Met)
K671M
UnsolvedUNSOLVED
 2012-12-07
exon 10
c.2024G>A
p.(Ser675Asn)
S675N
Likely benignPROVISIONAL
 2001-12-22
exon 10
c.2033G>A
p.(Gly678Glu)
G678E
Uncertain significance (VUS)PROVISIONAL
 2001-12-22
exon 10
c.2035A>C
p.(Asn679His)
N679H
Not classifiedTo be validated
 2017-11-22
exon 10
c.2038A>C
p.(Met680Leu)
M680L
Likely pathogenicVALIDATED
 2001-12-22
exon 10
c.2038A>G
p.(Met680Val)
M680V
Likely pathogenicVALIDATED
 2011-05-25
exon 10
c.2040G>C
p.(Met680Ile)
M680IGC
PathogenicVALIDATED
2001-12-11
exon 10
c.2040G>A
p.(Met680Ile)
M680IGA
PathogenicVALIDATED
 2001-12-11
exon 10
c.2042C>T
p.(Thr681Ile)
T681I
Uncertain significance (VUS)PROVISIONAL
 2001-12-22
exon 10
c.2049G>A
p.(=)
S683S
Likely benignVALIDATED
 2001-12-24
exon 10
c.2053G>A
p.(Glu685Lys)
E685K
Uncertain significance (VUS)VALIDATED
 2014-11-25
exon 10
c.2060G>A
p.(Gly687Asp)
G687D
Likely pathogenicPROVISIONAL
 2013-06-26
exon 10
c.2063A>G
p.(Tyr688Cys)
Y688C
Likely pathogenicVALIDATED
 2004-02-05
exon 10
c.2063A>T
p.(Tyr688Phe)
Y688F
Likely pathogenicVALIDATED
 2011-12-19
exon 10
c.2064C>G
p.(Tyr688*)
Y688X
Likely pathogenicVALIDATED
 2001-12-24
exon 10
c.2068G>C
p.(Val690Leu)
V690L
Likely benignPROVISIONAL
 2015-09-08
exon 10
c.2069T>G
p.(Val690Gly)
V690G
Not classifiedTo be validated
 2019-05-13
exon 10
c.2072T>G
p.(Val691Gly)
V691G
Not classifiedTo be validated
 2019-05-13
exon 10
c.2076_2078del
p.(Ile692del)
I692DEL
Likely pathogenicVALIDATED
2001-12-24
exon 10
c.2078T>A
p.(Met693Lys)
M693K
Not classifiedTo be validated
 2018-03-05
exon 10
c.2079G>C
p.(Met693Ile)
M693I
UnsolvedUNSOLVED
 2009-11-14
exon 10
c.2080A>G
p.(Met694Val)
M694V
PathogenicVALIDATED
2001-12-11
exon 10
c.2080A>T
p.(Met694Leu)
M694L
Likely pathogenicVALIDATED
 2002-12-20
exon 10
c.2081_2083del
p.(Met694del)
M694DEL
Likely pathogenicVALIDATED
 2001-12-22
exon 10
c.2081T>A
p.(Met694Lys)
M694K
Likely pathogenicVALIDATED
 2012-10-12
exon 10
c.2082G>A
p.(Met694Ile)
M694I
PathogenicVALIDATED
2001-12-11
exon 10
c.2084A>G
p.(Lys695Arg)
K695R
Likely pathogenicVALIDATED
 2001-12-24
exon 10
c.2084A>T
p.(Lys695Met)
K695M
UnsolvedUNSOLVED
 2005-04-08
exon 10
c.2085G>C
p.(Lys695Asn)
K695N
Likely pathogenicPROVISIONAL
 2009-03-30
exon 10
c.2094G>T
p.(Glu698Asp)
E698D
Uncertain significance (VUS)VALIDATED
 2014-10-03
exon 10
c.2103G>A
p.(=)
A701A
Likely benignVALIDATED
 2001-12-24
exon 10
c.2105C>G
p.(Ser702Cys)
S702C
Uncertain significance (VUS)VALIDATED
 2006-07-17
exon 10
c.2109C>T
p.(=)
S703S
Likely benignVALIDATED
 2003-11-19
exon 10
c.2110G>A
p.(Val704Ile)
V704I
UnsolvedUNSOLVED
 2001-12-24
exon 10
c.2113C>T
p.(Pro705Ser)
P705S
UnsolvedUNSOLVED
 2005-12-29
exon 10
c.2118G>A
p.(=)
P706P
Likely benignVALIDATED
 2001-12-24
exon 10
c.2122C>T
p.(Arg708Cys)
R708C
Uncertain significance (VUS)PROVISIONAL
 2008-11-14
exon 10
c.2126T>G
p.(Leu709Arg)
L709R
UnsolvedUNSOLVED
 2008-01-14
exon 10
c.2149C>A
p.(Arg717Ser)
R717S
UnsolvedUNSOLVED
 2008-02-25
exon 10
c.2150G>A
p.(Arg717His)
R717H
Uncertain significance (VUS)PROVISIONAL
 2011-08-06
exon 10
c.2150G>T
p.(Arg717Leu)
R717L
Uncertain significance (VUS)PROVISIONAL
 2011-09-01
exon 10
c.2160C>G
p.(Ile720Met)
I720M
Uncertain significance (VUS)VALIDATED
 2002-01-29
exon 10
c.2163C>T
p.(=)
F721F
Likely benignVALIDATED
 2001-12-24
exon 10
c.2164G>A
p.(Val722Met)
V722M
Uncertain significance (VUS)VALIDATED
 2008-11-06
exon 10
c.2169C>T
p.(=)
D723D
Likely benignVALIDATED
 2003-09-08
exon 10
c.2177T>C
p.(Val726Ala)
V726A
PathogenicVALIDATED
2001-12-11
exon 10
c.2185A>G
p.(Ile729Val)
I729V
Uncertain significance (VUS)VALIDATED
 2013-02-15
exon 10
c.2189C>G
p.(Ser730Cys)
S730C
UnsolvedUNSOLVED
 2011-05-17
exon 10
c.2198A>G
p.(Asn733Ser)
N733S
UnsolvedUNSOLVED
 2013-06-11
exon 10
c.2210G>A
p.(Arg737Lys)
R737K
Likely benignPROVISIONAL
 2011-08-01
exon 10
c.2228T>A
p.(Phe743Tyr)
F743Y
Likely pathogenicPROVISIONAL
 2009-12-09
exon 10
c.2229C>G
p.(Phe743Leu)
F743L
UnsolvedUNSOLVED
 2006-01-03
exon 10
c.2229C>T
p.(=)
F743F
Likely benignVALIDATED
 2006-01-23
exon 10
c.2230G>T
p.(Ala744Ser)
A744S
Uncertain significance (VUS)VALIDATED
2001-12-24
exon 10
c.2230G>A
p.(Ala744Thr)
A744T
UnsolvedUNSOLVED
 2014-02-25
exon 10
c.2246C>G
p.(Ser749Cys)
S749C
Uncertain significance (VUS)PROVISIONAL
 2007-01-08
exon 10
c.2259A>G
p.(=)
Q753Q
Likely benignVALIDATED
 2007-03-15
exon 10
c.2259A>T
p.(Gln753His)
Q753H
Likely pathogenicPROVISIONAL
 2011-12-13
exon 10
c.2261C>G
p.(Pro754Arg)
P754R
UnsolvedUNSOLVED
 2011-08-01
exon 10
c.2263A>G
p.(Ile755Val)
I755V
Uncertain significance (VUS)PROVISIONAL
 2008-08-05
exon 10
c.2272C>T
p.(Pro758Ser)
P758S
UnsolvedUNSOLVED
 2003-04-10
exon 10
c.2281C>T
p.(Arg761Cys)
R761C
Likely pathogenicVALIDATED
 2013-11-05
exon 10
c.2282G>A
p.(Arg761His)
R761H
Likely pathogenicVALIDATED
2001-12-24
exon 10
c.2292G>T
p.(=)
G764G
Likely benignVALIDATED
 2011-09-09
exon 10
c.2296A>C
p.(Asn766His)
N766H
Likely pathogenicVALIDATED
 2013-05-06
exon 10
c.2305C>G
p.(Pro769Ala)
P769A
Likely pathogenicPROVISIONAL
 2013-06-29
exon 10
c.2314A>G
p.(Ile772Val)
I772V
Likely benignPROVISIONAL
 2006-06-15
exon 10
c.2330dupG
p.(Gln778Serfs*4)
Q778Sfs*4
Likely pathogenicPROVISIONAL
 2013-05-08
exon 10
c.2333A>T
p.(Gln778Leu)
Q778L
Uncertain significance (VUS)PROVISIONAL
 2011-08-01
exon 10
c.2337G>C
p.(=)
G779G
Likely benignVALIDATED
 2006-01-04
exon 10
c.2338C>A
p.(Pro780Thr)
P780T
Likely benignPROVISIONAL
 2006-01-11
3UT
c.*9C>T
-
*9C>T
UnsolvedUNSOLVED
 2006-01-05
3UT
c.*12T>C
-
*12T>C
Likely benignVALIDATED
 2007-12-28
3UT
c.*21C>G
-
*21C>G
Likely benignVALIDATED
 2008-10-23
3UT
c.*133G>A
-
c.*133G>A
Likely benignVALIDATED
 2016-04-07
3UT
c.*245G>A
-
c.*245G>A
Likely benignVALIDATED
 2016-04-07
3UT
c.*267G>A
-
c.*267G>A
Likely benignVALIDATED
 2016-04-07