MVK (NM_000431.2) sequence variants

Editor(s): Laurence CUISSET   

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Total current number of sequence variants for MVK : 218

*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
c.-464_-463delGCinsTT
5 flanking
c.-464_-463delGCinsTT
-Not classifiedTo be validated
 2005-12-29
c.-325A>T
5 flanking
c.-325A>T
-Not classifiedTo be validated
 2006-04-05
c.-228G>A
5 flanking
c.-228G>A
-Not classifiedTo be validated
 2005-12-29
c.-207T>A
5 flanking
c.-207T>A
-Not classifiedTo be validated
 2006-04-13
del EXON 2
5UT
c.-14_78del
p.(Met1_Lys26del)Likely pathogenicVALIDATED
 2002-05-27
M1L
exon 2
c.1A>C
p.0PathogenicVALIDATED
 2012-01-30
Met1?
exon 2
c.3G>C
p.0PathogenicVALIDATED
 2013-02-05
V5A
exon 2
c.14T>C
p.(Val5Ala)Uncertain significance (VOUS)PROVISIONAL
 2010-08-26
L6fs
exon 2
c.16_34del
p.(Leu6Glyfs*16)PathogenicVALIDATED
 2004-12-16
V8L
exon 2
c.22G>C
p.(Val8Leu)Likely pathogenicVALIDATED
 2003-10-13
V8M
exon 2
c.22G>A
p.(Val8Met)Likely pathogenicVALIDATED
 2013-08-16
V8E
exon 2
c.23T>A
p.(Val8Glu)Likely pathogenicPROVISIONAL
 2013-05-06
A10V
exon 2
c.29C>T
p.(Ala10Val)Likely pathogenicVALIDATED
 2012-01-30
G11R
exon 2
c.34G>C
p.(Gly12Arg)Likely pathogenicVALIDATED
 2013-02-05
K13X
exon 2
c.37A>T
p.(Lys13*)PathogenicVALIDATED
 2002-02-05
K13Q
exon 2
c.37A>C
p.(Lys13Gln)Likely pathogenicVALIDATED
 2017-08-16
K13Nfs*68
exon 2
c.38_39insTCTG
p.(Lys13Asnfs*68)Not classifiedTo be validated
 2013-08-30
G18R
exon 2
c.52G>A
p.(Gly18Arg)Likely pathogenicVALIDATED
 2007-08-22
E19K
exon 2
c.55G>A
p.(Glu19Lys)UnsolvedUNSOLVED
 2014-04-01
H20N
exon 2
c.58C>A
p.(His20Asn)PathogenicVALIDATED
 2002-02-05
H20P
exon 2
c.59A>C
p.(His20Pro)PathogenicVALIDATED
 2002-02-05
H20Q
exon 2
c.60T>A
p.(His20Gln)PathogenicVALIDATED
 2004-12-16
A21V
exon 2
c.62C>T
p.(Ala21Val)Likely pathogenicVALIDATED
 2012-10-12
V22M
exon 2
c.64G>A
p.(Val22Met)UnsolvedUNSOLVED
 2013-08-16
H24P
exon 2
c.71A>C
p.(His24Pro)PathogenicVALIDATED
 2014-09-26
G25fs
exon 2
c.72dupT
p.(Gly25Trpfs*55)PathogenicVALIDATED
 2003-08-04
G25G
exon 2
c.75C>T
p.(Lys26Serfs*52)Likely pathogenicVALIDATED
 2003-12-15
IVS2+2delT
intron 2
c.78+2del
-Likely pathogenicVALIDATED
 2007-07-03
c.78+3A>G
intron 2
c.78+3A>G
-Uncertain significance (VOUS)PROVISIONAL
 2010-07-23
c.78+10C>T
intron 2
c.78+10C>T
-Likely benignVALIDATED
 2012-12-07
c.78+61A>G
intron 2
c.78+61A>G
-Likely benignVALIDATED
 2004-12-16
c.78+177G>A
intron 2
c.78+177G>A
-Likely benignVALIDATED
 2004-12-16
c.79-62G>A
intron 2
c.79-62G>A
-Likely benignVALIDATED
 2004-12-16
del EXON 3
exon 3
c.79_226del
p.(Val27Serfs*16)PathogenicVALIDATED
 2003-09-23
A28T
exon 3
c.82G>A
p.(Ala28Thr)PathogenicVALIDATED
 2012-10-02
L29fs
exon 3
c.86del
p.(Leu29Argfs*5)PathogenicVALIDATED
 2008-02-26
L35S
exon 3
c.104T>C
p.(Leu35Ser)PathogenicVALIDATED
 2003-07-21
R36T
exon 3
c.107G>C
p.(Arg36Thr)Likely pathogenicPROVISIONAL
 2011-03-04
L39P
exon 3
c.116T>C
p.(Leu39Pro)PathogenicVALIDATED
 2002-02-05
R40W
exon 3
c.118C>T
p.(Arg40Trp )Likely pathogenicVALIDATED
 2010-05-18
R40L
exon 3
c.119G>T
p.(Arg40Leu)UnsolvedUNSOLVED
 2013-05-06
L41P
exon 3
c.122T>C
p.(Leu41Pro)Likely pathogenicVALIDATED
 2013-02-05
H44fs
exon 3
c.129_130del
p.(His44Glnfs*35)PathogenicVALIDATED
 2006-09-21
L51F
exon 3
c.151C>T
p.(Leu51Phe)Likely pathogenicPROVISIONAL
 2011-03-04
S52N
exon 3
c.155G>A
p.(Ser52Asn)BenignVALIDATED
 2002-02-05
I56V
exon 3
c.166A>G
p.(Ile56Val)Uncertain significance (VOUS)VALIDATED
 2013-08-16
W62X(c.185)
exon 3
c.185G>A
p.(Trp62*)PathogenicVALIDATED
 2002-02-05
W62X(c.186)
exon 3
c.186G>A
p.(Trp62*)PathogenicVALIDATED
 2014-05-19
S69T
exon 3
c.205T>A
p.(Ser69Thr)UnsolvedUNSOLVED
 2014-07-29
c.227-3C>G
intron 3
c.227-3C>G
-UnsolvedUNSOLVED
 2008-04-30
c.227-1G>A
intron 3
c.227-1G>A
-Likely pathogenicVALIDATED
 2012-06-12
V80I
exon 4
c.238G>A
p.(Val80Ile)Likely benignVALIDATED
 2003-10-08
E93fs
exon 4
c.277_283del
p.(Glu93Glnfs*38)PathogenicVALIDATED
 2006-09-21
L97fs
exon 4
c.289del
p.(Leu97Cysfs*36)PathogenicVALIDATED
 2012-08-30
Y114fs
exon 4
c.340_344del
p.(Tyr114Ilefs*71)PathogenicVALIDATED
 2006-09-21
Y116H
exon 4
c.346T>C
p.(Tyr116His)Likely pathogenicVALIDATED
 2009-09-10
L117P
exon 4
c.350T>C
p.(Leu117Pro)Likely pathogenicVALIDATED
 2011-03-04
I119M
exon 4
c.357C>G
p.(Ile119Met)Likely pathogenicVALIDATED
 2004-12-16
R124W
exon 4
c.370A>T
p.(Arg124Trp)Likely pathogenicVALIDATED
 2013-08-16
c.371+8C>T
intron 4
c.371+8C>T
-Likely benignVALIDATED
 2004-12-16
c.371+49A>G
intron 4
c.371+49A>G
-Likely benignVALIDATED
 2013-10-01
c.372-6T>C
intron 4
c.372-6T>C
-UnsolvedUNSOLVED
 2012-10-12
c.372-3C>T
intron 4
c.372-3C>T
-Uncertain significance (VOUS)VALIDATED
 2006-05-02
del EXON 5
exon 5
c.372_527del
p.(Ala125_Arg176del)PathogenicVALIDATED
 2002-05-27
P127L
exon 5
c.380C>T
p.(Pro127Leu)Uncertain significance (VOUS)VALIDATED
 2014-02-24
D130G
exon 5
c.389A>G
p.(Asp130Gly)Uncertain significance (VOUS)To be validated
 2019-05-13
V132I
exon 5
c.394G>A
p.(Val132Ile)PathogenicVALIDATED
 2004-12-16
V132Efs*25
exon 5
c.395del
p.(Val132Glufs*27)Likely pathogenicVALIDATED
 2013-07-11
W134X
exon 5
c.401G>A
p.(Trp134*)PathogenicVALIDATED
 2011-03-04
S135L
exon 5
c.404C>T
p.(Ser135Leu)Likely pathogenicVALIDATED
 2002-02-05
S135S
exon 5
c.405G>A
p.(=)BenignVALIDATED
 2004-12-16
G140fs
exon 5
c.417dupC
p.(Gly140Argfs*47)Not classifiedTo be validated
 2006-09-21
A141fs (dupG)
exon 5
c.421dupG
p.(Ala141Glyfs*46)Not classifiedTo be validated
 2003-08-04
A141fs (delG)
exon 5
c.421del
p.(Ala141Argfs*18)PathogenicVALIDATED
 2006-07-04
G142D
exon 5
c.425G>A
p.(Gly142Asp)UnsolvedUNSOLVED
 2013-08-16
G144V
exon 5
c.431G>T
p.(Gly144Val)Likely pathogenicPROVISIONAL
 2013-05-06
A147T
exon 5
c.439G>A
p.(Ala147Thr)Likely pathogenicVALIDATED
 2006-09-21
A147A
exon 5
c.441C>T
p.(Ala147Ala)Likely benignVALIDATED
 2017-09-05
A148T
exon 5
c.442G>A
p.(Ala148Thr)Likely pathogenicVALIDATED
 2002-02-05
A148V
exon 5
c.443C>T
p.(Ala148Val)Likely pathogenicVALIDATED
 2011-03-04
Y149X
exon 5
c.447C>G
p.(Tyr149*)PathogenicVALIDATED
 2002-02-05
S150L
exon 5
c.449C>T
p.(Ser150Leu)Likely pathogenicVALIDATED
 2011-09-01
C152fs
exon 5
c.450_453del
p.(Cys152Trpfs*6)Likely pathogenicVALIDATED
 2012-07-03
S150S
exon 5
c.450G>A
p.(=)Likely benignVALIDATED
 2013-10-15
C152Y
exon 5
c.455G>A
p.(Cys152Tyr)Not classifiedTo be validated
 2018-04-30
T159fs
exon 5
c.475_478del
p.(Thr159Cysfs*9)PathogenicVALIDATED
 2011-03-04
C161RfsX25
exon 5
c.481_482del
p.(Cys161Argfs*25)Likely pathogenicVALIDATED
 2013-02-05
C161R
exon 5
c.481T>C
p.(Cys161Arg)Not classifiedTo be validated
 2017-11-20
P165L
exon 5
c.494C>T
p.(Pro165Leu)Likely pathogenicVALIDATED
 2002-02-05
P167L
exon 5
c.500C>T
p.(Pro167leu )Likely pathogenicVALIDATED
 2017-08-18
L168fs
exon 5
c.503_512delinsAC
p.(Leu168Hisfs*16)Not classifiedTo be validated
 2006-09-21
D170D
exon 5
c.510C>T
p.(=)BenignVALIDATED
 2002-02-05
G171R
exon 5
c.511G>A
p.(Gly171Arg)PathogenicVALIDATED
 2004-12-16
D172D
exon 5
c.516T>C
p.(=)Likely benignVALIDATED
 2003-07-22
W188X
exon 6
c.564G>A
p.(Trp188*)PathogenicVALIDATED
 2003-02-25
A189V
exon 6
c.566C>T
p.(Ala189Val)Not classifiedTo be validated
 2019-01-03
Q190fs
exon 6
c.571del
p.(Gln191Lysfs*5)PathogenicVALIDATED
 2006-09-21
H197H
exon 6
c.591C>T
p.(His197His)Likely benignVALIDATED
 2003-10-15
G202R
exon 6
c.604G>A
p.(Gly202Arg)PathogenicVALIDATED
 2002-02-05
V203fs
exon 6
c.606_607insG
p.(Val203Glyfs*74)Not classifiedTo be validated
 2006-09-21
V203A
exon 6
c.608T>C
p.(Val203Ala)PathogenicVALIDATED
 2004-03-18
D204E
exon 6
c.612C>A
p.(Asp204Glu)Uncertain significance (VOUS)VALIDATED
 2012-02-20
N205D
exon 6
c.613A>G
p.(Asn205Asp)Likely pathogenicVALIDATED
 2006-09-21
T209A
exon 6
c.625A>G
p.(Thr209Ala)Likely pathogenicVALIDATED
 2002-02-05
c.632-71A>G
intron 6
c.632-71A>G
-Likely benignVALIDATED
 2004-12-16
c.632-18A>G
intron 6
c.632-18A>G
-Likely benignVALIDATED
 2004-12-16
G211A
exon 7
c.632G>C
p.(Gly211Ala)Likely pathogenicVALIDATED
 2003-09-12
G211E
exon 7
c.632G>A
p.(Gly211Glu)PathogenicVALIDATED
 2004-12-16
G212R
exon 7
c.634G>A
p.(Gly212Arg)Likely pathogenicVALIDATED
 2011-03-10
G212del
exon 7
c.635_637del
p.(Gly212del)PathogenicVALIDATED
 2011-05-26
R215X
exon 7
c.643C>T
p.(Arg215*)PathogenicVALIDATED
 2013-02-05
R215G
exon 7
c.643C>G
p.(Arg215Gly)Uncertain significance (VOUS)PROVISIONAL
 2014-03-10
R215Q
exon 7
c.644G>A
p.(Arg215Gln)Likely pathogenicVALIDATED
 2002-02-05
Q218X
exon 7
c.652C>T
p.(Gln218*)PathogenicVALIDATED
 2011-03-04
G219W
exon 7
c.655G>T
p.(Gly219Trp)Likely pathogenicVALIDATED
 2011-03-10
c.678-78delT
intron 7
c.678-78del
-Likely benignPROVISIONAL
 2014-03-03
del Exon 8
intron 7
c.678-1G>C
p.?Likely pathogenicVALIDATED
 2006-09-21
c.678-1G>A
intron 7
c.678-1G>A
p.? or p.(Arg226fs)Likely pathogenicVALIDATED
 2013-08-16
P228L
exon 8
c.683C>T
p.(Pro228Leu)Likely pathogenicVALIDATED
 2011-09-01
P228P
exon 8
c.684A>G
p.(=)Likely benignVALIDATED
 2006-09-21
L230P
exon 8
c.689T>C
p.(Leu230Pro)Likely pathogenicPROVISIONAL
 2010-09-29
L234P
exon 8
c.701T>C
p.(Leu234Pro)PathogenicVALIDATED
 2006-09-21
T237S
exon 8
c.709A>T
p.(Thr237Ser)PathogenicVALIDATED
 2006-09-21
R241C
exon 8
c.721C>T
p.(Arg241Cys)PathogenicVALIDATED
 2008-04-30
T243I
exon 8
c.728C>T
p.(Thr243Ile)Likely pathogenicVALIDATED
 2003-07-21
L246P
exon 8
c.737T>C
p.(Leu246Pro)Likely pathogenicVALIDATED
 2003-04-04
V250I
exon 8
c.748G>A
p.(Val250Ile)Likely pathogenicVALIDATED
 2004-12-16
V250F
exon 8
c.748G>T
p.(Val250Phe )UnsolvedUNSOLVED
 2017-08-18
N252S
exon 8
c.755A>G
p.(Asn252Ser)Uncertain significance (VOUS)PROVISIONAL
 2013-08-16
L255P
exon 8
c.764T>C
p.(Leu255Pro)Uncertain significance (VOUS)VALIDATED
 2013-02-05
c.768+23G>C
intron 8
c.768+23G>C
-Likely benignVALIDATED
 2004-12-16
c.769-103C>T
intron 8
c.769-103C>T
-Likely benignVALIDATED
 2005-12-29
c.769-97
intron 8
c.769-97G>A
-Likely benignVALIDATED
 2012-12-21
c.769-38 C>T
intron 8
c.769-38C>T
-Likely benignVALIDATED
 2003-09-18
c.769-7T>G
intron 8
c.769-7T>G
-Likely benignVALIDATED
 2004-03-08
c.769-7_769-6dupT
intron 8
c.769-7_769-6dup
-Likely benignPROVISIONAL
 2005-01-26
I260I
exon 9
c.780C>A
p.(=)Likely benignVALIDATED
 2003-07-22
V261A
exon 9
c.782T>C
p.(Val261Ala)Likely pathogenicPROVISIONAL
 2011-12-07
A262P
exon 9
c.784G>C
p.(Ala262Pro)UnsolvedUNSOLVED
 2011-03-17
P263P
exon 9
c.789C>A
p.(=)Likely benignVALIDATED
 2013-08-27
L264F
exon 9
c.790C>T
p.(Leu264Phe)Likely pathogenicPROVISIONAL
 2003-07-21
c.790del
exon 9
c.790del
p.(Leu264Serfs*2)PathogenicVALIDATED
 2013-02-05
L265P
exon 9
c.794T>C
p.(Leu265Pro)PathogenicVALIDATED
 2003-07-21
L265R
exon 9
c.794T>G
p.(Leu265Arg)PathogenicVALIDATED
 2004-10-05
I268T
exon 9
c.803T>C
p.(Ile268Thr)PathogenicVALIDATED
 2002-02-05
D269H
exon 9
c.805G>C
p.(Asp269His)Uncertain significance (VOUS)VALIDATED
 2012-01-30
S272F
exon 9
c.815C>T
p.(Ser272Phe)Likely pathogenicVALIDATED
 2003-07-21
R277C
exon 9
c.829C>T
p.(Arg277Cys)PathogenicVALIDATED
 2003-07-22
R277G
exon 9
c.829C>G
p.(Arg277Gly)Likely pathogenicVALIDATED
 2014-03-31
R277H
exon 9
c.830G>A
p.(Arg277His)Likely pathogenicVALIDATED
 2006-01-04
R277R
exon 9
c.831C>T
p.(=)BenignVALIDATED
 2006-04-27
V278A
exon 9
c.833T>C
p.(Val278Ala)Likely pathogenicPROVISIONAL
 2012-02-20
L279P
exon 9
c.836T>C
p.(Leu279Pro)Likely pathogenicVALIDATED
 2013-02-05
E284Kfs*17
exon 9
c.850del
p.(Glu284Lysfs*17)PathogenicVALIDATED
 2013-08-30
c.853insA
exon 9
c.852dup
p.(Ala285Serfs*15)Not classifiedTo be validated
 2013-07-11
P286L
exon 9
c.857C>T
p.(Pro286Leu)Uncertain significance (VOUS)VALIDATED
 2008-02-26
P288L
exon 9
c.863C>T
p.(Pro288Leu)Uncertain significance (VOUS)PROVISIONAL
 2006-05-02
Y291D
exon 9
c.871T>G
p.(Tyr291Asp)Likely pathogenicVALIDATED
 2013-02-05
V293M
exon 9
c.877G>A
p.(Val293Met)Uncertain significance (VOUS)VALIDATED
 2006-05-02
c.885+24G>A
intron 9
c.885+24G>A
-Likely benignVALIDATED
 2003-07-25
c.885+117C>A
intron 9
c.885+117C>A
-Likely benignVALIDATED
 2017-09-05
c.886-1G>A
intron 9
c.886-1G>A
-Likely pathogenicVALIDATED
 2011-09-01
I298T
exon 10
c.893T>C
p.(Ile298Thr)Likely pathogenicVALIDATED
 2011-03-04
D299N
exon 10
c.895G>A
p.(Asp299Asn)Not classifiedTo be validated
 2018-04-03
N301T
exon 10
c.902A>C
p.(Asn301Thr)PathogenicVALIDATED
 2003-07-22
L308L
exon 10
c.924C>T
p.(=)Likely benignVALIDATED
 2004-12-16
G309S
exon 10
c.925G>A
p.(Gly309Ser)PathogenicVALIDATED
 2002-02-05
V310M
exon 10
c.928G>A
p.(Val310Met)PathogenicVALIDATED
 2003-07-22
V310L
exon 10
c.928G>T
p.(Val310Leu)Likely pathogenicVALIDATED
 2011-03-04
G311R
exon 10
c.931G>C
p.(Gly311Arg)Likely pathogenicVALIDATED
 2014-04-17
H311R
exon 10
c.935A>G
p.(His312Arg)UnsolvedUNSOLVED
 2013-02-05
S314S
exon 10
c.942T>C
p.(=)Likely benignVALIDATED
 2013-08-16
L315V
exon 10
c.943C>G
p.(Leu315Val)Uncertain significance (VOUS)VALIDATED
 2013-02-05
L315Gfs*51
exon 10
c.943_944del
p.(Leu315Glyfs*51)Likely pathogenicVALIDATED
 2013-08-16
C319S
exon 10
c.956G>C
p.(Cys319Ser)UnsolvedUNSOLVED
 2011-05-26
V321A
exon 10
c.962T>C
p.(Val321Ala)Likely pathogenicPROVISIONAL
 2011-03-04
T322S
exon 10
c.965C>G
p.(Thr322Ser)Likely pathogenicVALIDATED
 2006-09-21
R325R
exon 10
c.975C>T
p.(=)Likely benignVALIDATED
 2013-08-16
G326R
exon 10
c.976G>A
p.(Gly326Arg)Likely pathogenicPROVISIONAL
 2002-02-06
S329N
exon 10
c.986G>A
p.(Ser329Asn)Likely pathogenicVALIDATED
 2005-10-06
S329R
exon 10
c.987C>A
p.(Ser329Arg)Likely pathogenicPROVISIONAL
 2003-09-23
G333G
exon 10
c.999C>T
p.(=)Likely benignVALIDATED
 2013-08-16
A334T
exon 10
c.1000G>A
p.(Ala334Thr)PathogenicVALIDATED
 2003-07-21
G335D
exon 10
c.1004G>A
p.(Gly335Asp)Likely pathogenicVALIDATED
 2011-03-04
G335A
exon 10
c.1004G>C
p.(Gly335Ala)UnsolvedUNSOLVED
 2013-02-05
G335G
exon 10
c.1005C>T
p.(=)Likely benignVALIDATED
 2006-05-02
G336S
exon 10
c.1006G>A
p.(Gly336Ser)Likely pathogenicVALIDATED
 2006-05-02
G338D
exon 10
c.1013G>A
p.(Gly338Asp)Likely pathogenicVALIDATED
 2011-03-04
T342I
exon 10
c.1025C>T
p.(Thr342Ile)Likely pathogenicTo be validated
 2019-02-08
L343P
exon 10
c.1028T>C
p.(Leu343Pro)Likely pathogenicVALIDATED
 2013-09-25
E296fs
intron 10
c.1039+1G>T
p.(Glu296Glyfs*14)Likely pathogenicVALIDATED
 2006-08-02
L348IfsX17
intron 10
c.1039+2T>C
p.(Leu348Ilefs*17)Likely pathogenicVALIDATED
 2013-02-05
c.1039+7C>T
intron 10
c.1039+7C>T
-Likely benignVALIDATED
 2017-09-05
c.1040-1G>A
intron 10
c.1040-1G>A
-Likely pathogenicVALIDATED
 2011-03-04
c.1057delTGGAGGCCACGAAG
exon 11
c.1058_1071del
p.(Pro353Leufs*3)Not classifiedTo be validated
 2013-07-11
T356M
exon 11
c.1067C>T
p.(Thr356Met)Uncertain significance (VOUS)VALIDATED
 2004-12-16
L357fs
exon 11
c.1071del
p.(Lys357Asnfs*4)Likely pathogenicVALIDATED
 2012-01-30
S362I
exon 11
c.1085G>T
p.(Ser362Ile)Likely pathogenicVALIDATED
 2012-10-02
F364S
exon 11
c.1094T>C
p.(Phe365Ser)Likely pathogenicVALIDATED
 2013-02-05
D366fs
exon 11
c.1095_1098del
p.(Asp366Alafs*110)Likely pathogenicVALIDATED
 2006-09-21
C367S
exon 11
c.1100G>C
p.(Cys367Ser)Uncertain significance (VOUS)VALIDATED
 2006-05-02
I372M
exon 11
c.1116C>G
p.(Ile372Met)Uncertain significance (VOUS)VALIDATED
 2013-08-30
G376S
exon 11
c.1126G>A
p.(Gly376Ser)Likely pathogenicVALIDATED
 2011-03-04
G376V
exon 11
c.1127G>T
p.(Gly376Val)Likely pathogenicVALIDATED
 2004-12-16
V377I
exon 11
c.1129G>A
p.(Val377Ile)PathogenicVALIDATED
 2002-02-05
S378P
exon 11
c.1132T>C
p.(Ser378Pro)Likely pathogenicPROVISIONAL
 2005-03-07
I379N
exon 11
c.1136T>A
p.(Ile379Asn)Likely pathogenicVALIDATED
 2011-03-04
H380R
exon 11
c.1139A>G
p.(His380Arg)Likely pathogenicVALIDATED
 2003-08-29
A382P
exon 11
c.1144G>C
p.(Ala382Pro)Uncertain significance (VOUS)PROVISIONAL
 2012-12-03
S384F
exon 11
c.1151C>T
p.(Ser384Phe)Uncertain significance (VOUS)PROVISIONAL
 2009-10-16
D386N
exon 11
c.1156G>A
p.(Asp386Asn)Uncertain significance (VOUS)VALIDATED
 2008-02-26
R388X
exon 11
c.1162C>T
p.(Arg388*)PathogenicVALIDATED
 2006-05-10
Q390*
exon 11
c.1168C>T
p.(Gln390*)Not classifiedTo be validated
 2018-04-03
Q390P
exon 11
c.1169A>C
p.(Gln390Pro)Likely pathogenicVALIDATED
 2011-03-04
Stop397R
exon 11
c.1189T>C
p.*397Argext*34PathogenicVALIDATED
 2012-06-13
c.1202C>T
3UT
c.*11C>T
-Uncertain significance (VOUS)VALIDATED
 2004-12-16
c.*35C>T
3UT
c.*35C>T
-Likely benignVALIDATED
 2017-09-05
1245-1246INSG
3UT
c.*54_*55insG
-Not classifiedTo be validated
 2002-05-27