MEFV (NM_000243.2) sequence variants

Editor(s): Isabelle TOUITOU   

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Total current number of sequence variants for MEFV : 363

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

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
L649F
exon 10
c.1945C>T
p.(Leu649Phe)Not classifiedTo be validated
 2019-07-18
G668R
exon 10
c.2002G>A
p.(Gly668Arg)Likely pathogenicTo be validated
 2019-07-16
R75Q
exon 1
c.224G>A
p.(Arg75Gln)Likely benignTo be validated
 2019-07-16
K224del
exon 2
c.670_672delAAG
p.(Lys224del)Likely pathogenicTo be validated
 2019-07-16
R495K
exon 5
c.1484G>A
p.(Arg495Lys)Uncertain significance (VOUS)To be validated
 2019-07-16
R204H
exon 2
c.611G>A
p.(Arg204His)Not classifiedTo be validated
 2019-07-11
V67E
exon 1
c.200T>A
p.(Val67Glu)Uncertain significance (VOUS)To be validated
 2019-07-11
P115R
exon 2
c.344C>G
p.(Pro115Arg)Uncertain significance (VOUS)To be validated
 2019-07-11
T249A
exon 2
c.745A>G
p.(Thr249Ala)Uncertain significance (VOUS)To be validated
 2019-07-11
P257L
exon 2
c.770C>T
p.(Pro257Leu)Uncertain significance (VOUS)To be validated
 2019-07-11
K539N
exon 7
c.1617G>T
p.(Lys539Asn)Uncertain significance (VOUS)To be validated
 2019-07-11
I591M
exon 9
c.1773T>G
p.(Ile591Met)Likely benignTo be validated
 2019-07-11
P313H
exon 3
c.938C>A
p.(Pro313His)Likely pathogenicTo be validated
 2019-07-01
K35R
exon 1
c.104A>G
p.(Lys35Arg)Not classifiedTo be validated
 2019-05-13
S442T
exon 4
c.1324T>A
p.(Ser442Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
R653S
exon 10
c.1957C>A
p.(Arg653Ser)Uncertain significance (VOUS)To be validated
 2019-05-13
L28V
exon 1
c.82C>G
p.(Leu28Val)Uncertain significance (VOUS)To be validated
 2019-05-13
V691G
exon 10
c.2072T>G
p.(Val691Gly)Not classifiedTo be validated
 2019-05-13
V690G
exon 10
c.2069T>G
p.(Val690Gly)Not classifiedTo be validated
 2019-05-13
S235L
exon 2
c.704C>T
p.(Ser235Leu)Not classifiedTo be validated
 2019-05-13
S208T
exon 2
c.623G>C
p.(Ser208Thr)Likely pathogenicTo be validated
 2019-03-15
K662Dfs*36
exon 10
c.1984_1985delAA
p.(Lys662Aspfs*36)Likely pathogenicTo be validated
 2019-03-13
D661Y
exon 10
c.1981G>T
p.(Asp661Tyr)Not classifiedTo be validated
 2018-12-14
E244K
exon 2
c.730G>A
p.(Glu244Lys)Not classifiedTo be validated
 2018-07-26
L484M
exon 5
c.1450C>A
p.(Leu484Met)Not classifiedTo be validated
 2018-07-09
c.1229G>A
exon 3
c.1229G>A
p.(Arg410His)Not classifiedTo be validated
 2018-03-29
c.1792G>A
exon 9
c.1792G>A
p.(Val598Ile)Not classifiedTo be validated
 2018-03-29
M693K
exon 10
c.2078T>A
p.(Met693Lys)Not classifiedTo be validated
 2018-03-05
P188P
exon 2
c.564C>T
p.(Pro188Pro)Not classifiedTo be validated
 2018-02-16
I423T
exon 4
c.1268T>C
p.(Ile423Thr)Not classifiedTo be validated
 2018-02-12
S187N
exon 2
c.560G>A
p.(Ser187Asn)Not classifiedTo be validated
 2018-01-11
G62W
exon 1
c.184G>T
p.(Gly62Trp)Not classifiedTo be validated
 2017-11-23
N679H
exon 10
c.2035A>C
p.(Asn679His)Not classifiedTo be validated
 2017-11-22
E520V
exon 5
c.1559A>T
p.(Glu520Val)Not classifiedTo be validated
 2017-11-14
P353A
exon 3
c.1057C>G
p.(Pro353Ala)Not classifiedTo be validated
 2017-10-30
W626R
exon 10
c.1876T>A
p.(Trp626Arg)Not classifiedTo be validated
 2017-10-06
c.1759+76_1759+77insC
intron 8
c.1759+76_1759+77insC
-UnsolvedUNSOLVED
 2017-09-05
c.1792+8C>T
intron 9
c.1792+8C>T
-UnsolvedUNSOLVED
 2017-09-05
c.911-12G>A
intron 2
c.911-12G>A
-Likely benignVALIDATED
 2017-09-05
P364P
exon 3
c.1092G>T
p.(Pro364Pro)Likely benignVALIDATED
 2017-09-05
A457A
exon 5
c.1371G>A
p.(Ala457Ala)Likely benignVALIDATED
 2017-09-05
c.1588-17C>G
intron 5
c.1588-17C>G
-Likely benignVALIDATED
 2017-09-05
V487L
exon 5
c.1459G>C
p.(Val487Leu)UnsolvedUNSOLVED
 2017-08-21
S108G
exon 2
c.322A>G
p.(Ser108Gly )Uncertain significance (VOUS)VALIDATED
 2017-08-18
E552D
exon 7
c.1656G>C
p.(Glu552Asp)Uncertain significance (VOUS)PROVISIONAL
 2017-08-16
E148RfsX5
exon 2
c.441dupC
p.(Glu148Argfs*94)Not classifiedTo be validated
 2017-07-13
H404R
exon 3
c.1211A>G
p.(His404Arg)Not classifiedTo be validated
 2017-01-25
L367V
exon 3
c.1099C>G
p.(Leu367Val)Not classifiedTo be validated
 2017-01-25
c.698_700dupTGC
exon 2
c.698_700dupTGC
p.(Leu233dup)Not classifiedTo be validated
 2016-12-21
c.*267G>A
3UT
c.*267G>A
-Likely benignVALIDATED
 2016-04-07
c.*245G>A
3UT
c.*245G>A
-Likely benignVALIDATED
 2016-04-07
c.*133G>A
3UT
c.*133G>A
-Likely benignVALIDATED
 2016-04-07
E128_N130del
exon 2
c.382_390del
p.(Glu128_Asn130del)Likely pathogenicPROVISIONAL
 2016-01-21
V690L
exon 10
c.2068G>C
p.(Val690Leu)Likely benignPROVISIONAL
 2015-09-08
A511E
exon 5
c.1532C>A
p.(Ala511Glu)Uncertain significance (VOUS)VALIDATED
 2015-08-11
D389V
exon 3
c.1166A>T
p.(Asp389Val)Likely pathogenicPROVISIONAL
 2015-06-02
E148D
exon 2
c.444G>C
p.(Glu148Asp)Uncertain significance (VOUS)PROVISIONAL
 2015-03-26
P630AfsX2
exon 10
c.1886dup
p.(Pro630Alafs*2)Uncertain significance (VOUS)PROVISIONAL
 2015-02-06
P350S
exon 3
c.1048C>T
p.(Pro350Ser)Uncertain significance (VOUS)VALIDATED
 2015-01-06
H123Q
exon 2
c.369C>A
p.(His123Gln)Uncertain significance (VOUS)PROVISIONAL
 2014-11-27
E685K
exon 10
c.2053G>A
p.(Glu685Lys)Uncertain significance (VOUS)VALIDATED
 2014-11-25
R361T
exon 3
c.1082G>C
p.(Arg361Thr)Uncertain significance (VOUS)PROVISIONAL
 2014-11-18
D510N
exon 5
c.1528G>A
p.(Asp510Asn)Uncertain significance (VOUS)VALIDATED
 2014-10-21
M238I
exon 2
c.714G>T
p.(Met238Ile)Uncertain significance (VOUS)PROVISIONAL
 2014-10-07
E698D
exon 10
c.2094G>T
p.(Glu698Asp)Uncertain significance (VOUS)VALIDATED
 2014-10-03
N130N
exon 2
c.390C>T
p.(=)Likely benignVALIDATED
 2014-09-24
R155T
exon 2
c.464G>C
p.(Arg155Thr)Uncertain significance (VOUS)VALIDATED
 2014-04-30
S273L
exon 2
c.818C>T
p.(Ser273Leu)Likely benignPROVISIONAL
 2014-03-11
L57L
exon 1
c.171G>A
p.(=)Likely benignVALIDATED
 2014-03-11
-979T>C
5 flanking
c.-979T>C
-Not classifiedTo be validated
 2014-03-10
S363N
exon 3
c.1088G>A
p.(Ser363Asn)Uncertain significance (VOUS)PROVISIONAL
 2014-02-25
A744T
exon 10
c.2230G>A
p.(Ala744Thr)UnsolvedUNSOLVED
 2014-02-25
V338L
exon 3
c.1012G>C
p.(Val338Leu)Uncertain significance (VOUS)PROVISIONAL
 2014-02-20
P115T
exon 2
c.343C>A
p.(Pro115Thr)Likely benignPROVISIONAL
 2014-01-20
K266E
exon 2
c.796A>G
p.(Lys266Glu)Likely benignPROVISIONAL
 2013-11-06
R761C
exon 10
c.2281C>T
p.(Arg761Cys)Likely pathogenicVALIDATED
 2013-11-05
N270D
exon 2
c.808A>G
p.(Asn270Asp)Likely benignPROVISIONAL
 2013-09-10
G196R
exon 2
c.586G>A
p.(Gly196Arg)Uncertain significance (VOUS)PROVISIONAL
 2013-09-10
P373L
exon 3
c.1118C>T
p.(Pro373Leu)Uncertain significance (VOUS)VALIDATED
 2013-09-10
T120I
exon 2
c.359C>T
p.(Thr120Ile)Likely benignVALIDATED
 2013-08-22
L372P
exon 3
c.1115T>C
p.(Leu372Pro)Likely pathogenicPROVISIONAL
 2013-07-15
E230Q
exon 2
c.688G>C
p.(Glu230Gln)Likely benignPROVISIONAL
 2013-06-29
I666V
exon 10
c.1996A>G
p.(Ile666Val)Likely benignPROVISIONAL
 2013-06-29
P769A
exon 10
c.2305C>G
p.(Pro769Ala)Likely pathogenicPROVISIONAL
 2013-06-29
S288Y
exon 2
c.863C>A
p.(Ser288Tyr)Uncertain significance (VOUS)VALIDATED
 2013-06-29
S650Y
exon 10
c.1949C>A
p.(Ser650Tyr)Likely pathogenicVALIDATED
 2013-06-29
A289E
exon 2
c.866C>A
p.(Ala289Glu)Uncertain significance (VOUS)VALIDATED
 2013-06-28
D637G
exon 10
c.1910A>G
p.(Asp637Gly)UnsolvedUNSOLVED
 2013-06-28
A105E
exon 2
c.314C>A
p.(Ala105Glu)Uncertain significance (VOUS)VALIDATED
 2013-06-28
G687D
exon 10
c.2060G>A
p.(Gly687Asp)Likely pathogenicPROVISIONAL
 2013-06-26
N733S
exon 10
c.2198A>G
p.(Asn733Ser)UnsolvedUNSOLVED
 2013-06-11
Q778Sfs*4
exon 10
c.2330dupG
p.(Gln778Serfs*4)Likely pathogenicPROVISIONAL
 2013-05-08
T12I
exon 1
c.35C>T
p.(Thr12Ile)UnsolvedUNSOLVED
 2013-05-06
Y19C
exon 1
c.56A>G
p.(Tyr19Cys)UnsolvedUNSOLVED
 2013-05-06
K25R
exon 1
c.74A>G
p.(Lys25Arg)Likely pathogenicPROVISIONAL
 2013-05-06
R39G
exon 1
c.115A>G
p.(Arg39Gly)Likely pathogenicPROVISIONAL
 2013-05-06
Q97X
exon 2
c.289C>T
p.(Gln97*)Likely pathogenicVALIDATED
 2013-05-06
E195E
exon 2
c.585G>A
p.(=)Likely benignVALIDATED
 2013-05-06
P307P
exon 3
c.921A>G
p.(=)Likely benignVALIDATED
 2013-05-06
L384P
exon 3
c.1151T>C
p.(Leu384Pro)Likely pathogenicPROVISIONAL
 2013-05-06
D391N
exon 3
c.1171G>A
p.(Asp391Asn)Likely benignPROVISIONAL
 2013-05-06
Q468Q
exon 5
c.1404G>A
p.(=)UnsolvedUNSOLVED
 2013-05-06
D505G
exon 5
c.1514A>G
p.(Asp505Gly)Uncertain significance (VOUS)VALIDATED
 2013-05-06
c.1760-5C>T
intron 8
c.1760-5C>T
-Likely benignVALIDATED
 2013-05-06
N766H
exon 10
c.2296A>C
p.(Asn766His)Likely pathogenicVALIDATED
 2013-05-06
T577N
exon 8
c.1730C>A
p.(Thr577Asn)Likely pathogenicVALIDATED
 2013-05-04
T577A
exon 8
c.1729A>G
p.(Thr577Ala)Likely pathogenicPROVISIONAL
 2013-05-04
T577SCG
exon 8
c.1730C>G
p.(Thr577Ser)Likely pathogenicVALIDATED
 2013-05-04
N206K
exon 2
c.618C>G
p.(Asn206Lys)Uncertain significance (VOUS)PROVISIONAL
 2013-04-18
R652C
exon 10
c.1954C>T
p.(Arg652Cys)Uncertain significance (VOUS)VALIDATED
 2013-03-25
Q97R
exon 2
c.290A>G
p.(Gln97Arg)Uncertain significance (VOUS)VALIDATED
 2013-03-07
S154P
exon 2
c.460T>C
p.(Ser154Pro)Uncertain significance (VOUS)VALIDATED
 2013-02-28
I729V
exon 10
c.2185A>G
p.(Ile729Val)Uncertain significance (VOUS)VALIDATED
 2013-02-15
-170G>A
5 flanking
c.-170G>A
-Not classifiedTo be validated
 2013-02-05
K376R
exon 3
c.1127A>G
p.(Lys376Arg)Likely benignPROVISIONAL
 2013-02-05
Q426R
exon 4
c.1277A>G
p.(Gln426Arg)Uncertain significance (VOUS)VALIDATED
 2012-12-07
K671M
exon 10
c.2012A>T
p.(Lys671Met)UnsolvedUNSOLVED
 2012-12-07
M694K
exon 10
c.2081T>A
p.(Met694Lys)Likely pathogenicVALIDATED
 2012-10-12
A193V
exon 2
c.578C>T
p.(Ala193Val)UnsolvedUNSOLVED
 2012-10-02
N206S
exon 2
c.617A>G
p.(Asn206Ser)Uncertain significance (VOUS)VALIDATED
 2012-10-02
G222R
exon 2
c.664G>A
p.(Gly222Arg)Uncertain significance (VOUS)PROVISIONAL
 2012-10-02
R239R
exon 2
c.717A>T
p.(=)Likely benignVALIDATED
 2012-10-02
G218A
exon 2
c.653G>C
p.(Gly218Ala)Uncertain significance (VOUS)VALIDATED
 2012-10-02
S166S
exon 2
c.498G>C
p.(=)Likely benignVALIDATED
 2012-10-02
L169V
exon 2
c.505C>G
p.(Leu169Val)Likely benignPROVISIONAL
 2012-10-02
S159N
exon 2
c.476G>A
p.(Ser159Asn)Likely benignPROVISIONAL
 2012-10-02
A165T
exon 2
c.493G>A
p.(Ala165Thr)Uncertain significance (VOUS)PROVISIONAL
 2012-10-02
G111R
exon 2
c.331G>A
p.(Gly111Arg)Uncertain significance (VOUS)VALIDATED
 2012-10-01
G136W
exon 2
c.406G>T
p.(Gly136Trp)Uncertain significance (VOUS)VALIDATED
 2012-10-01
G136G
exon 2
c.408G>A
p.(=)Likely benignVALIDATED
 2012-10-01
L203P
exon 2
c.608T>C
p.(Leu203Pro)Uncertain significance (VOUS)VALIDATED
 2012-10-01
P234P
exon 2
c.702C>T
p.(=)Likely benignVALIDATED
 2012-10-01
P183P
exon 2
c.549G>A
p.(=)Likely benignVALIDATED
 2012-09-20
R628K
exon 10
c.1883G>A
p.(Arg628Lys )Likely benignPROVISIONAL
 2012-08-27
R652H
exon 10
c.1955G>A
p.(Arg652His)Uncertain significance (VOUS)PROVISIONAL
 2012-07-23
P550A
exon 7
c.1648C>G
p.(Pro550Ala)Uncertain significance (VOUS)PROVISIONAL
 2012-07-23
G211G
exon 2
c.633G>A
p.(=)Likely benignVALIDATED
 2012-07-13
S208C
exon 2
c.622A>T
p.(Ser208Cys)Uncertain significance (VOUS)PROVISIONAL
 2012-07-03
L194P
exon 2
c.581T>C
p.(Leu194Pro)Likely benignPROVISIONAL
 2012-02-24
Y688F
exon 10
c.2063A>T
p.(Tyr688Phe)Likely pathogenicVALIDATED
 2011-12-19
Q753H
exon 10
c.2259A>T
p.(Gln753His)Likely pathogenicPROVISIONAL
 2011-12-13
G197R
exon 2
c.589G>C
p.(Gly197Arg)Uncertain significance (VOUS)PROVISIONAL
 2011-12-13
1356+98C>T
intron 4
c.1356+98C>T
-Likely benignVALIDATED
 2011-09-09
G764G
exon 10
c.2292G>T
p.(=)Likely benignVALIDATED
 2011-09-09
G111E
exon 2
c.332G>A
p.(Gly111Glu)Uncertain significance (VOUS)VALIDATED
 2011-09-05
E225G
exon 2
c.674A>G
p.(Glu225Gly)Uncertain significance (VOUS)VALIDATED
 2011-09-01
R717L
exon 10
c.2150G>T
p.(Arg717Leu)Uncertain significance (VOUS)PROVISIONAL
 2011-09-01
E163D
exon 2
c.489G>T
p.(Glu163Asp)UnsolvedUNSOLVED
 2011-08-25
R717H
exon 10
c.2150G>A
p.(Arg717His)Uncertain significance (VOUS)PROVISIONAL
 2011-08-06
R737K
exon 10
c.2210G>A
p.(Arg737Lys)Likely benignPROVISIONAL
 2011-08-01
Q778L
exon 10
c.2333A>T
p.(Gln778Leu)Uncertain significance (VOUS)PROVISIONAL
 2011-08-01
P754R
exon 10
c.2261C>G
p.(Pro754Arg)UnsolvedUNSOLVED
 2011-08-01
G150G
exon 2
c.450G>A
p.(=)Likely benignVALIDATED
 2011-06-07
E403K
exon 3
c.1207G>A
p.(Glu403Lys)Likely pathogenicPROVISIONAL
 2011-05-25
M680V
exon 10
c.2038A>G
p.(Met680Val)Likely pathogenicVALIDATED
 2011-05-25
S730C
exon 10
c.2189C>G
p.(Ser730Cys)UnsolvedUNSOLVED
 2011-05-17
R314C
exon 3
c.940C>T
p.(Arg314Cys)Uncertain significance (VOUS)PROVISIONAL
 2011-04-14
P277T
exon 2
c.829C>A
p.(Pro277Thr)Likely benignPROVISIONAL
 2011-04-14
S179N
exon 2
c.536G>A
p.(Ser179Asn)Likely benignPROVISIONAL
2011-04-01
R501C
exon 5
c.1501C>T
p.(Arg501Cys)Likely pathogenicPROVISIONAL
 2011-04-01
R241K
exon 2
c.722G>A
p.(Arg241Lys)Likely benignPROVISIONAL
 2011-03-25
I247V
exon 2
c.739A>G
p.(Ile247Val)Likely benignPROVISIONAL
 2011-03-15
Q97K
exon 2
c.289C>A
p.(Gln97Lys)Uncertain significance (VOUS)VALIDATED
 2011-01-04
S166L
exon 2
c.497C>T
p.(Ser166Leu)Uncertain significance (VOUS)PROVISIONAL
 2010-10-13
S209S
exon 2
c.627C>T
p.(=)Likely benignVALIDATED
 2010-09-29
A317T
exon 3
c.949G>A
p.(Ala317Thr)Likely benignPROVISIONAL
 2010-08-26
A511V
exon 5
c.1532C>T
p.(Ala511Val)Uncertain significance (VOUS)PROVISIONAL
 2010-07-06
G632A
exon 10
c.1895G>C
p.(Gly632Ala)Likely benignPROVISIONAL
 2010-06-29
E84K
exon 1
c.250G>A
p.(Glu84Lys)Likely pathogenicPROVISIONAL
 2010-04-23
-888G>A
5 flanking
c.-888G>A
-Not classifiedTo be validated
 2010-04-16
P350R
exon 3
c.1049C>G
p.(Pro350Arg)Uncertain significance (VOUS)VALIDATED
 2010-03-18
E456D
exon 5
c.1368A>C
p.(Glu456Asp)UnsolvedUNSOLVED
 2010-03-18
S503C
exon 5
c.1508C>G
p.(Ser503Cys)Likely pathogenicVALIDATED
 2010-03-18
F743Y
exon 10
c.2228T>A
p.(Phe743Tyr)Likely pathogenicPROVISIONAL
 2009-12-09
M693I
exon 10
c.2079G>C
p.(Met693Ile)UnsolvedUNSOLVED
 2009-11-14
P364L
exon 3
c.1091C>T
p.(Pro364Leu)Uncertain significance (VOUS)PROVISIONAL
 2009-10-19
L602L
exon 10
c.1806G>T
p.(=)Likely benignVALIDATED
 2009-08-21
T606T
exon 10
c.1818C>T
p.(=)Likely benignVALIDATED
 2009-08-04
V659F
exon 10
c.1975G>T
p.(Val659Phe)Likely pathogenicPROVISIONAL
 2009-06-12
N599D
exon 10
c.1795A>G
p.(Asn599Asp)Uncertain significance (VOUS)VALIDATED
 2009-06-04
Q172P
exon 2
c.515A>C
p.(Gln172Pro)Uncertain significance (VOUS)VALIDATED
 2009-06-04
c.1260+92G>A
intron 3
c.1260+92G>A
-Likely benignVALIDATED
 2009-04-14
Y471X
exon 5
c.1413C>A
p.(Tyr471*)Likely pathogenicPROVISIONAL
 2009-03-30
K695N
exon 10
c.2085G>C
p.(Lys695Asn)Likely pathogenicPROVISIONAL
 2009-03-30
c.1587+29G>T
intron 5
c.1587+29G>T
-Likely benignVALIDATED
 2009-03-11
Y232H
exon 2
c.694T>C
p.(Tyr232His)Likely benignPROVISIONAL
 2009-02-10
R314H
exon 3
c.941G>A
p.(Arg314His)UnsolvedUNSOLVED
 2008-12-23
V328A
exon 3
c.983T>C
p.(Val328Ala)UnsolvedUNSOLVED
 2008-12-11
R708C
exon 10
c.2122C>T
p.(Arg708Cys)Uncertain significance (VOUS)PROVISIONAL
 2008-11-14
V722M
exon 10
c.2164G>A
p.(Val722Met)Uncertain significance (VOUS)VALIDATED
 2008-11-06
*21C>G
3UT
c.*21C>G
-Likely benignVALIDATED
 2008-10-23
R348H
exon 3
c.1043G>A
p.(Arg348His)UnsolvedUNSOLVED
 2008-10-12
I513T
exon 5
c.1538T>C
p.(Ile513Thr)UnsolvedUNSOLVED
 2008-10-12
S242R C>A
exon 2
c.726C>A
p.(Ser242Arg)Likely pathogenicVALIDATED
 2008-09-12
R501H
exon 5
c.1502G>A
p.(Arg501His)Likely benignVALIDATED
 2008-09-04
I755V
exon 10
c.2263A>G
p.(Ile755Val)Uncertain significance (VOUS)PROVISIONAL
 2008-08-05
V415V
exon 3
c.1245C>T
p.(=)Likely benignVALIDATED
 2008-08-05
T577SAT
exon 8
c.1729A>T
p.(Thr577Ser)Likely pathogenicPROVISIONAL
 2008-03-03
R143P
exon 2
c.428G>C
p.(Arg143Pro)Likely benignPROVISIONAL
 2008-02-25
A595V
exon 9
c.1784C>T
p.(Ala595Val)Uncertain significance (VOUS)PROVISIONAL
 2008-02-25
R717S
exon 10
c.2149C>A
p.(Arg717Ser)UnsolvedUNSOLVED
 2008-02-25
c.1588-69G>A
intron 5
c.1588-69G>A
-Likely benignVALIDATED
 2008-01-23
c.911-22T>G
intron 2
c.911-22T>G
-Likely benignVALIDATED
 2008-01-23
R278P
exon 2
c.833G>C
p.(Arg278Pro)Likely benignPROVISIONAL
 2008-01-21
Q383K
exon 3
c.1147C>A
p.(Gln383Lys)Uncertain significance (VOUS)VALIDATED
 2008-01-21
c.910+29C>T
intron 2
c.910+29C>T
-Likely benignVALIDATED
 2008-01-21
c.1610+47A>T
intron 6
c.1610+47A>T
-Likely benignVALIDATED
 2008-01-21
L709R
exon 10
c.2126T>G
p.(Leu709Arg)UnsolvedUNSOLVED
 2008-01-14
R151S
exon 2
c.453G>C
p.(Arg151Ser)Uncertain significance (VOUS)VALIDATED
 2008-01-14
I506V
exon 5
c.1516A>G
p.(Ile506Val)Likely benignVALIDATED
 2008-01-14
*12T>C
3UT
c.*12T>C
-Likely benignVALIDATED
 2007-12-28
G136R
exon 2
c.406G>A
p.(Gly136Arg)Uncertain significance (VOUS)VALIDATED
 2007-08-22
G219G
exon 2
c.657C>T
p.(=)Likely benignVALIDATED
 2007-08-10
E225D
exon 2
c.675G>C
p.(Glu225Asp)UnsolvedUNSOLVED
 2007-07-03
606_621dup
exon 2
c.606_621dup
p.(Ser208Alafs*39)Likely pathogenicPROVISIONAL
 2007-06-20
G196W
exon 2
c.586G>T
p.(Gly196Trp)Uncertain significance (VOUS)PROVISIONAL
 2007-06-12
L110L
exon 2
c.330G>A
p.(=)Likely benignVALIDATED
 2007-05-17
S242R C>G
exon 2
c.726C>G
p.(Ser242Arg)Likely pathogenicVALIDATED
 2007-05-17
Q440E
exon 4
c.1318C>G
p.(Gln440Glu)Likely benignVALIDATED
 2007-03-28
Q753Q
exon 10
c.2259A>G
p.(=)Likely benignVALIDATED
 2007-03-15
N99N
exon 2
c.297C>T
p.(=)Likely benignVALIDATED
 2007-03-15
1792+39 G>A
intron 9
c.1792+39G>A
-Likely benignVALIDATED
 2007-03-15
V469L
exon 5
c.1405G>T
p.(Val469Leu)Likely benignPROVISIONAL
 2007-03-02
G111G
exon 2
c.333G>A
p.(=)Likely benignVALIDATED
 2007-02-07
S749C
exon 10
c.2246C>G
p.(Ser749Cys)Uncertain significance (VOUS)PROVISIONAL
 2007-01-08
-382C>G
5 flanking
c.-382C>G
-Not classifiedTo be validated
 2007-01-08
-614C>G
5 flanking
c.-614C>G
-Not classifiedTo be validated
 2007-01-08
-751A>G
5 flanking
c.-751A>G
-Not classifiedTo be validated
 2007-01-08
-792C>T
5 flanking
c.-792C>T
-Not classifiedTo be validated
 2007-01-08
-330G>A
5 flanking
c.-330G>A
-Not classifiedTo be validated
 2007-01-08
-740C>T
5 flanking
c.-740C>T
-Not classifiedTo be validated
 2007-01-08
1760-28T>A
intron 8
c.1760-28T>A
-Likely benignVALIDATED
 2007-01-06
1261-11T>G
intron 3
c.1261-11T>G
-Likely benignVALIDATED
 2007-01-06
911-78T>C
intron 2
c.911-78T>C
-Likely benignVALIDATED
 2007-01-06
S363S
exon 3
c.1089C>T
p.(=)Likely benignVALIDATED
 2007-01-06
E299G
exon 2
c.896A>G
p.(Glu299Gly)Likely benignPROVISIONAL
 2006-10-17
G514E
exon 5
c.1541G>A
p.(Gly514Glu)Uncertain significance (VOUS)PROVISIONAL
 2006-10-17
C352C
exon 3
c.1056C>T
p.(=)Likely benignVALIDATED
 2006-07-17
M582L
exon 8
c.1744A>C
p.(Met582Leu)Likely benignPROVISIONAL
 2006-07-17
S702C
exon 10
c.2105C>G
p.(Ser702Cys)Uncertain significance (VOUS)VALIDATED
 2006-07-17
I772V
exon 10
c.2314A>G
p.(Ile772Val)Likely benignPROVISIONAL
 2006-06-15
1587+18C>T
intron 5
c.1587+18C>T
-Likely benignVALIDATED
 2006-05-29
1610+96C>T
intron 6
c.1610+96C>T
-Likely benignVALIDATED
 2006-05-09
P221P
exon 2
c.663G>C
p.(=)Likely benignVALIDATED
 2006-04-27
G592G
exon 9
c.1776C>T
p.(=)Likely benignVALIDATED
 2006-04-06
1760-30A>T
intron 8
c.1760-30T>A
-Likely benignVALIDATED
 2006-03-17
P646P
exon 10
c.1938G>A
p.(=)Likely benignVALIDATED
 2006-03-17
G236V
exon 2
c.707G>T
p.(Gly236Val)UnsolvedUNSOLVED
 2006-02-23
1727-58T>C
intron 7
c.1727-58T>C
-Likely benignVALIDATED
 2006-02-07
F743F
exon 10
c.2229C>T
p.(=)Likely benignVALIDATED
 2006-01-23
S339F
exon 3
c.1016C>T
p.(Ser339Phe)UnsolvedUNSOLVED
 2006-01-23
T309M
exon 3
c.926C>T
p.(Thr309Met)Uncertain significance (VOUS)PROVISIONAL
 2006-01-18
P780T
exon 10
c.2338C>A
p.(Pro780Thr)Likely benignPROVISIONAL
 2006-01-11
*9C>T
3UT
c.*9C>T
-UnsolvedUNSOLVED
 2006-01-05
G779G
exon 10
c.2337G>C
p.(=)Likely benignVALIDATED
 2006-01-04
A457V
exon 5
c.1370C>T
p.(Ala457Val)Likely benignPROVISIONAL
 2006-01-03
F743L
exon 10
c.2229C>G
p.(Phe743Leu)UnsolvedUNSOLVED
 2006-01-03
I259V
exon 2
c.775A>G
p.(Ile259Val)Likely benignPROVISIONAL
 2005-12-29
P705S
exon 10
c.2113C>T
p.(Pro705Ser)UnsolvedUNSOLVED
 2005-12-29
L9L
exon 1
c.25C>T
p.(=)Likely benignVALIDATED
 2005-12-29
I641F
exon 10
c.1921A>T
p.(Ile641Phe)Uncertain significance (VOUS)PROVISIONAL
 2005-12-29
-12C>G
5UT
c.-12C>G
-Uncertain significance (VOUS)VALIDATED
 2005-12-29
I423V
exon 4
c.1267A>G
p.(Ile423Val)Uncertain significance (VOUS)PROVISIONAL
 2005-12-29
IVS9+57C>T
intron 9
c.1792+57C>T
-Likely benignVALIDATED
 2005-12-29
1356+44A>G
intron 4
c.1356+44A>G
-Likely benignVALIDATED
 2005-12-19
T177I
exon 2
c.530C>T
p.(Thr177Ile)Likely benignPROVISIONAL
 2005-12-02
E125E
exon 2
c.375G>A
p.(=)Likely benignVALIDATED
 2005-10-06
1261-28A>G
intron 3
c.1261-28A>G
-Likely benignVALIDATED
 2005-09-01
1793-14A>G
intron 9
c.1793-14A>G
-Likely benignVALIDATED
 2005-09-01
1760-4G>A
intron 8
c.1760-4G>A
-Likely benignVALIDATED
 2005-09-01
761_764dup
exon 2
c.761_764dupCCGC
p.(Asn256Argfs*70)Likely pathogenicPROVISIONAL
 2005-08-29
P180P
exon 2
c.540G>C
p.(=)Likely benignVALIDATED
 2005-08-29
P609P
exon 10
c.1827C>G
p.(=)Likely benignVALIDATED
 2005-08-25
1260+18C>G
intron 3
c.1260+18C>G
-Not classifiedTo be validated
 2005-08-25
1260+10C>T
intron 3
c.1260+10C>T
-Likely benignVALIDATED
 2005-08-25
P180R
exon 2
c.539C>G
p.(Pro180Arg)Uncertain significance (VOUS)PROVISIONAL
 2005-08-16
Q489Q
exon 5
c.1467G>A
p.(=)Likely benignVALIDATED
 2005-07-26
A289V
exon 2
c.866C>T
p.(Ala289Val)Uncertain significance (VOUS)PROVISIONAL
 2005-06-07
P283L
exon 2
c.848C>T
p.(Pro283Leu)Uncertain significance (VOUS)VALIDATED
 2005-05-23
S141I
exon 2
c.422G>T
p.(Ser141Ile)Likely benignPROVISIONAL
 2005-04-19
K695M
exon 10
c.2084A>T
p.(Lys695Met)UnsolvedUNSOLVED
 2005-04-08
G632S
exon 10
c.1894G>A
p.(Gly632Ser)UnsolvedUNSOLVED
 2004-12-22
S242S
exon 2
c.726C>T
p.(=)Likely benignVALIDATED
 2004-11-26
P175H
exon 2
c.524C>A
p.(Pro175His)Uncertain significance (VOUS)VALIDATED
 2004-11-10
1587+33C>G
intron 5
c.1587+33C>G
-Likely benignVALIDATED
 2004-09-20
A89T
exon 1
c.265G>A
p.(Ala89Thr)Likely pathogenicPROVISIONAL
 2004-09-01
S179I
exon 2
c.536G>T
p.(Ser179Ile)Uncertain significance (VOUS)PROVISIONAL
 2004-09-01
A268V
exon 2
c.803C>T
p.(Ala268Val)Likely benignPROVISIONAL
 2004-08-19
390_391insGAGGGGAAC
exon 2
c.382_390dup
p.(Glu128_Asn130dup)Likely pathogenicPROVISIONAL
 2004-02-05
Y688C
exon 10
c.2063A>G
p.(Tyr688Cys)Likely pathogenicVALIDATED
 2004-02-05
IVS8+8 C-T
intron 8
c.1759+8C>T
-Likely benignVALIDATED
 2003-12-11
D661N
exon 10
c.1981G>A
p.(Asp661Asn)UnsolvedUNSOLVED
 2003-12-11
P283R
exon 2
c.848C>G
p.(Pro283Arg)Uncertain significance (VOUS)VALIDATED
 2003-12-09
S703S
exon 10
c.2109C>T
p.(=)Likely benignVALIDATED
 2003-11-19
R354W
exon 3
c.1060C>T
p.(Arg354Trp)Likely pathogenicPROVISIONAL
 2003-09-08
D723D
exon 10
c.2169C>T
p.(=)Likely benignVALIDATED
 2003-09-08
I640M
exon 10
c.1920C>G
p.(Ile640Met)Uncertain significance (VOUS)VALIDATED
2003-08-01
P758S
exon 10
c.2272C>T
p.(Pro758Ser)UnsolvedUNSOLVED
 2003-04-10
L559F
exon 7
c.1675C>T
p.(Leu559Phe)UnsolvedUNSOLVED
 2003-01-13
E251K
exon 2
c.751G>A
p.(Glu251Lys)Uncertain significance (VOUS)VALIDATED
 2002-12-20
G304R
exon 2
c.910G>A
p.(Gly304Arg)Likely benignVALIDATED
 2002-12-20
R329H
exon 3
c.986G>A
p.(Arg329His)Likely benignVALIDATED
 2002-12-20
M694L
exon 10
c.2080A>T
p.(Met694Leu)Likely pathogenicVALIDATED
 2002-12-20
E319K
exon 3
c.955G>A
p.(Glu319Lys)UnsolvedUNSOLVED
 2002-10-21
334_335insG
exon 2
c.334_335insG
p.(Glu112Glyfs*130)UnsolvedUNSOLVED
 2002-10-15
P646L
exon 10
c.1937C>T
p.(Pro646Leu)Uncertain significance (VOUS)PROVISIONAL
 2002-08-22
L649P
exon 10
c.1946T>C
p.(Leu649Pro)Uncertain significance (VOUS)PROVISIONAL
 2002-08-22
H478Y
exon 5
c.1432C>T
p.(His478Tyr)Uncertain significance (VOUS)VALIDATED
 2002-06-18
E163A
exon 2
c.488A>C
p.(Glu163Ala)Uncertain significance (VOUS)VALIDATED
 2002-06-18
E474K
exon 5
c.1420G>A
p.(Glu474Lys)Uncertain significance (VOUS)VALIDATED
 2002-02-15
S108R
exon 2
c.322A>C
p.(Ser108Arg)Uncertain significance (VOUS)VALIDATED
 2002-02-12
I720M
exon 10
c.2160C>G
p.(Ile720Met)Uncertain significance (VOUS)VALIDATED
 2002-01-29
V487M
exon 5
c.1459G>A
p.(Val487Met)Uncertain significance (VOUS)PROVISIONAL
 2002-01-17
R501G
exon 5
c.1501C>G
p.(Arg501Gly)Uncertain significance (VOUS)PROVISIONAL
 2002-01-17
S683S
exon 10
c.2049G>A
p.(=)Likely benignVALIDATED
 2001-12-24
I692DEL
exon 10
c.2076_2078del
p.(Ile692del)Likely pathogenicVALIDATED
2001-12-24
K695R
exon 10
c.2084A>G
p.(Lys695Arg)Likely pathogenicVALIDATED
 2001-12-24
A701A
exon 10
c.2103G>A
p.(=)Likely benignVALIDATED
 2001-12-24
V704I
exon 10
c.2110G>A
p.(Val704Ile)UnsolvedUNSOLVED
 2001-12-24
P706P
exon 10
c.2118G>A
p.(=)Likely benignVALIDATED
 2001-12-24
F721F
exon 10
c.2163C>T
p.(=)Likely benignVALIDATED
 2001-12-24
A744S
exon 10
c.2230G>T
p.(Ala744Ser)Uncertain significance (VOUS)VALIDATED
2001-12-24
R761H
exon 10
c.2282G>A
p.(Arg761His)Likely pathogenicVALIDATED
2001-12-24
Y688X
exon 10
c.2064C>G
p.(Tyr688*)Likely pathogenicVALIDATED
 2001-12-24
D102D
exon 2
c.306T>C
p.(=)BenignVALIDATED
 2001-12-24
R501R
exon 5
c.1503C>T
p.(=)Likely benignVALIDATED
 2001-12-24
I506I
exon 5
c.1518C>T
p.(=)Likely benignVALIDATED
 2001-12-24
D510D
exon 5
c.1530T>C
p.(=)BenignVALIDATED
 2001-12-22
P588P
exon 9
c.1764G>A
p.(=)BenignVALIDATED
 2001-12-22
I591T
exon 9
c.1772T>C
p.(Ile591Thr)Uncertain significance (VOUS)PROVISIONAL
 2001-12-22
R652R
exon 10
c.1956C>A
p.(=)Likely benignVALIDATED
 2001-12-22
R653H
exon 10
c.1958G>A
p.(Arg653His)Uncertain significance (VOUS)PROVISIONAL
2001-12-22
E656A
exon 10
c.1967A>C
p.(Glu656Ala)Likely pathogenicVALIDATED
 2001-12-22
S675N
exon 10
c.2024G>A
p.(Ser675Asn)Likely benignPROVISIONAL
 2001-12-22
G678E
exon 10
c.2033G>A
p.(Gly678Glu)Uncertain significance (VOUS)PROVISIONAL
 2001-12-22
M680L
exon 10
c.2038A>C
p.(Met680Leu)Likely pathogenicVALIDATED
 2001-12-22
T681I
exon 10
c.2042C>T
p.(Thr681Ile)Uncertain significance (VOUS)PROVISIONAL
 2001-12-22
M694DEL
exon 10
c.2081_2083del
p.(Met694del)Likely pathogenicVALIDATED
 2001-12-22
M694V
exon 10
c.2080A>G
p.(Met694Val)PathogenicVALIDATED
2001-12-11
M694I
exon 10
c.2082G>A
p.(Met694Ile)PathogenicVALIDATED
2001-12-11
M680IGC
exon 10
c.2040G>C
p.(Met680Ile)PathogenicVALIDATED
2001-12-11
M680IGA
exon 10
c.2040G>A
p.(Met680Ile)PathogenicVALIDATED
 2001-12-11
V726A
exon 10
c.2177T>C
p.(Val726Ala)PathogenicVALIDATED
2001-12-11
E148Q
exon 2
c.442G>C
p.(Glu148Gln)Uncertain significance (VOUS)VALIDATED
2001-12-11
E148V
exon 2
c.443A>T
p.(Glu148Val)Uncertain significance (VOUS)VALIDATED
 2001-12-11
R42W
exon 1
c.124C>T
p.(Arg42Trp)UnsolvedUNSOLVED
 2001-12-11
Y65Y
exon 1
c.195C>T
p.(=)Likely benignVALIDATED
 2001-12-11
D103D
exon 2
c.309T>C
p.(=)Likely benignVALIDATED
 2001-12-11
L110P
exon 2
c.329T>C
p.(Leu110Pro)Uncertain significance (VOUS)VALIDATED
2001-12-11
P124P
exon 2
c.372C>T
p.(=)Likely benignVALIDATED
 2001-12-11
G138G
exon 2
c.414A>G
p.(=)BenignVALIDATED
 2001-12-11
A165A
exon 2
c.495C>A
p.(=)BenignVALIDATED
 2001-12-11
E167D
exon 2
c.501G>C
p.(Glu167Asp)Likely pathogenicPROVISIONAL
2001-12-11
R202Q
exon 2
c.605G>A
p.(Arg202Gln)BenignVALIDATED
 2001-12-11
E230K
exon 2
c.688G>A
p.(Glu230Lys)Uncertain significance (VOUS)VALIDATED
 2001-12-11
T267I
exon 2
c.800C>T
p.(Thr267Ile)Likely pathogenicVALIDATED
 2001-12-11
R314R
exon 3
c.942C>T
p.(=)BenignVALIDATED
 2001-12-11
P369S
exon 3
c.1105C>T
p.(Pro369Ser)Uncertain significance (VOUS)VALIDATED
2001-12-11
P393P
exon 3
c.1179C>T
p.(=)Likely benignVALIDATED
 2001-12-11
R408Q
exon 3
c.1223G>A
p.(Arg408Gln)Uncertain significance (VOUS)PROVISIONAL
2001-12-11
E474E
exon 5
c.1422G>A
p.(=)BenignVALIDATED
 2001-12-11
Q476Q
exon 5
c.1428A>G
p.(=)BenignVALIDATED
 2001-12-11
F479L
exon 5
c.1437C>G
p.(Phe479Leu)Likely pathogenicVALIDATED
2001-12-11