MVK (NM_000431.2) sequence variants

Editor(s): Laurence CUISSET   

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Total current number of sequence variants for MVK : 227

*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
exon 5
c.498C>A
p.(Asn166Lys)
N166K
Likely pathogenicTo be validated
 2019-08-21
exon 10
c.1016G>C
p.(Cys339Ser)
C339S
Likely pathogenicTo be validated
 2019-08-02
exon 5
c.489_490dup
p.(Ile164Argfs*6)
I164fs
Likely pathogenicTo be validated
 2019-07-16
exon 2
c.59A>G
p.(His20Arg)
H20R
Likely pathogenicTo be validated
 2019-07-11
exon 5
c.442_447dup
p.(Ala148_Tyr149dup)
447_448insGCCTAC
Not classifiedTo be validated
 2019-07-11
exon 4
c.325G>C
p.(Val109Leu)
V109L
Likely pathogenicTo be validated
 2019-07-11
exon 8
c.737del
p.(Val247Trpfs*19)
V247fs
PathogenicTo be validated
 2019-06-20
exon 6
c.538G>A
p.(Glu180Lys)
E180K
Uncertain significance (VUS)To be validated
 2019-05-21
exon 5
c.389A>G
p.(Asp130Gly)
D130G
Uncertain significance (VUS)To be validated
 2019-05-13
3UT
c.*571G>A
p.(=)
*571G>A
Uncertain significance (VUS)To be validated
 2019-05-13
exon 10
c.1025C>T
p.(Thr342Ile)
T342I
Likely pathogenicTo be validated
 2019-02-08
exon 6
c.566C>T
p.(Ala189Val)
A189V
Not classifiedTo be validated
 2019-01-03
exon 5
c.455G>A
p.(Cys152Tyr)
C152Y
Not classifiedTo be validated
 2018-04-30
exon 10
c.895G>A
p.(Asp299Asn)
D299N
Not classifiedTo be validated
 2018-04-03
exon 11
c.1168C>T
p.(Gln390*)
Q390*
Not classifiedTo be validated
 2018-04-03
exon 5
c.481T>C
p.(Cys161Arg)
C161R
Not classifiedTo be validated
 2017-11-20
intron 9
c.885+117C>A
-
c.885+117C>A
Likely benignVALIDATED
 2017-09-05
3UT
c.*35C>T
-
c.*35C>T
Likely benignVALIDATED
 2017-09-05
intron 10
c.1039+7C>T
-
c.1039+7C>T
Likely benignVALIDATED
 2017-09-05
exon 5
c.441C>T
p.(Ala147Ala)
A147A
Likely benignVALIDATED
 2017-09-05
exon 5
c.500C>T
p.(Pro167leu )
P167L
Likely pathogenicVALIDATED
 2017-08-18
exon 8
c.748G>T
p.(Val250Phe )
V250F
UnsolvedUNSOLVED
 2017-08-18
exon 2
c.37A>C
p.(Lys13Gln)
K13Q
Likely pathogenicVALIDATED
 2017-08-16
exon 2
c.71A>C
p.(His24Pro)
H24P
PathogenicVALIDATED
 2014-09-26
exon 3
c.205T>A
p.(Ser69Thr)
S69T
UnsolvedUNSOLVED
 2014-07-29
exon 3
c.186G>A
p.(Trp62*)
W62X(c.186)
PathogenicVALIDATED
 2014-05-19
exon 10
c.931G>C
p.(Gly311Arg)
G311R
Likely pathogenicVALIDATED
 2014-04-17
exon 2
c.55G>A
p.(Glu19Lys)
E19K
UnsolvedUNSOLVED
 2014-04-01
exon 9
c.829C>G
p.(Arg277Gly)
R277G
Likely pathogenicVALIDATED
 2014-03-31
exon 7
c.643C>G
p.(Arg215Gly)
R215G
Uncertain significance (VUS)PROVISIONAL
 2014-03-10
intron 7
c.678-78del
-
c.678-78delT
Likely benignPROVISIONAL
 2014-03-03
exon 5
c.380C>T
p.(Pro127Leu)
P127L
Uncertain significance (VUS)VALIDATED
 2014-02-24
exon 5
c.450G>A
p.(=)
S150S
Likely benignVALIDATED
 2013-10-15
intron 4
c.371+49A>G
-
c.371+49A>G
Likely benignVALIDATED
 2013-10-01
exon 10
c.1028T>C
p.(Leu343Pro)
L343P
Likely pathogenicVALIDATED
 2013-09-25
exon 2
c.38_39insTCTG
p.(Lys13Asnfs*68)
K13Nfs*68
Not classifiedTo be validated
 2013-08-30
exon 9
c.850del
p.(Glu284Lysfs*17)
E284Kfs*17
PathogenicVALIDATED
 2013-08-30
exon 11
c.1116C>G
p.(Ile372Met)
I372M
Uncertain significance (VUS)VALIDATED
 2013-08-30
exon 9
c.789C>A
p.(=)
P263P
Likely benignVALIDATED
 2013-08-27
exon 2
c.22G>A
p.(Val8Met)
V8M
Likely pathogenicVALIDATED
 2013-08-16
exon 2
c.64G>A
p.(Val22Met)
V22M
UnsolvedUNSOLVED
 2013-08-16
exon 3
c.166A>G
p.(Ile56Val)
I56V
Uncertain significance (VUS)VALIDATED
 2013-08-16
exon 4
c.370A>T
p.(Arg124Trp)
R124W
Likely pathogenicVALIDATED
 2013-08-16
exon 5
c.425G>A
p.(Gly142Asp)
G142D
UnsolvedUNSOLVED
 2013-08-16
intron 7
c.678-1G>A
p.? or p.(Arg226fs)
c.678-1G>A
Likely pathogenicVALIDATED
 2013-08-16
exon 8
c.755A>G
p.(Asn252Ser)
N252S
Uncertain significance (VUS)PROVISIONAL
 2013-08-16
exon 10
c.942T>C
p.(=)
S314S
Likely benignVALIDATED
 2013-08-16
exon 10
c.943_944del
p.(Leu315Glyfs*51)
L315Gfs*51
Likely pathogenicVALIDATED
 2013-08-16
exon 10
c.999C>T
p.(=)
G333G
Likely benignVALIDATED
 2013-08-16
exon 10
c.975C>T
p.(=)
R325R
Likely benignVALIDATED
 2013-08-16
exon 5
c.395del
p.(Val132Glufs*27)
V132Efs*25
Likely pathogenicVALIDATED
 2013-07-11
exon 9
c.852dup
p.(Ala285Serfs*15)
c.853insA
Not classifiedTo be validated
 2013-07-11
exon 11
c.1058_1071del
p.(Pro353Leufs*3)
c.1057delTGGAGGCCACGAAG
Not classifiedTo be validated
 2013-07-11
exon 2
c.23T>A
p.(Val8Glu)
V8E
Likely pathogenicPROVISIONAL
 2013-05-06
exon 3
c.119G>T
p.(Arg40Leu)
R40L
UnsolvedUNSOLVED
 2013-05-06
exon 5
c.431G>T
p.(Gly144Val)
G144V
Likely pathogenicPROVISIONAL
 2013-05-06
exon 9
c.790del
p.(Leu264Serfs*2)
c.790del
PathogenicVALIDATED
 2013-02-05
exon 10
c.1004G>C
p.(Gly335Ala)
G335A
UnsolvedUNSOLVED
 2013-02-05
exon 10
c.943C>G
p.(Leu315Val)
L315V
Uncertain significance (VUS)VALIDATED
 2013-02-05
exon 7
c.643C>T
p.(Arg215*)
R215X
PathogenicVALIDATED
 2013-02-05
exon 2
c.3G>C
p.0
Met1?
PathogenicVALIDATED
 2013-02-05
exon 2
c.34G>C
p.(Gly12Arg)
G11R
Likely pathogenicVALIDATED
 2013-02-05
exon 3
c.122T>C
p.(Leu41Pro)
L41P
Likely pathogenicVALIDATED
 2013-02-05
exon 5
c.481_482del
p.(Cys161Argfs*25)
C161RfsX25
Likely pathogenicVALIDATED
 2013-02-05
exon 8
c.764T>C
p.(Leu255Pro)
L255P
Uncertain significance (VUS)VALIDATED
 2013-02-05
exon 9
c.836T>C
p.(Leu279Pro)
L279P
Likely pathogenicVALIDATED
 2013-02-05
exon 9
c.871T>G
p.(Tyr291Asp)
Y291D
Likely pathogenicVALIDATED
 2013-02-05
intron 10
c.1039+2T>C
p.(Leu348Ilefs*17)
L348IfsX17
Likely pathogenicVALIDATED
 2013-02-05
exon 10
c.935A>G
p.(His312Arg)
H311R
UnsolvedUNSOLVED
 2013-02-05
exon 11
c.1094T>C
p.(Phe365Ser)
F364S
Likely pathogenicVALIDATED
 2013-02-05
intron 8
c.769-97G>A
-
c.769-97
Likely benignVALIDATED
 2012-12-21
intron 2
c.78+10C>T
-
c.78+10C>T
Likely benignVALIDATED
 2012-12-07
exon 11
c.1144G>C
p.(Ala382Pro)
A382P
Uncertain significance (VUS)PROVISIONAL
 2012-12-03
exon 2
c.62C>T
p.(Ala21Val)
A21V
Likely pathogenicVALIDATED
 2012-10-12
intron 4
c.372-6T>C
-
c.372-6T>C
UnsolvedUNSOLVED
 2012-10-12
exon 3
c.82G>A
p.(Ala28Thr)
A28T
PathogenicVALIDATED
 2012-10-02
exon 11
c.1085G>T
p.(Ser362Ile)
S362I
Likely pathogenicVALIDATED
 2012-10-02
exon 4
c.289del
p.(Leu97Cysfs*36)
L97fs
PathogenicVALIDATED
 2012-08-30
exon 5
c.450_453del
p.(Cys152Trpfs*6)
C152fs
Likely pathogenicVALIDATED
 2012-07-03
exon 11
c.1189T>C
p.*397Argext*34
Stop397R
PathogenicVALIDATED
 2012-06-13
intron 3
c.227-1G>A
-
c.227-1G>A
Likely pathogenicVALIDATED
 2012-06-12
exon 6
c.612C>A
p.(Asp204Glu)
D204E
Uncertain significance (VUS)VALIDATED
 2012-02-20
exon 9
c.833T>C
p.(Val278Ala)
V278A
Likely pathogenicPROVISIONAL
 2012-02-20
exon 2
c.1A>C
p.0
M1L
PathogenicVALIDATED
 2012-01-30
exon 11
c.1071del
p.(Lys357Asnfs*4)
L357fs
Likely pathogenicVALIDATED
 2012-01-30
exon 9
c.805G>C
p.(Asp269His)
D269H
Uncertain significance (VUS)VALIDATED
 2012-01-30
exon 2
c.29C>T
p.(Ala10Val)
A10V
Likely pathogenicVALIDATED
 2012-01-30
exon 9
c.782T>C
p.(Val261Ala)
V261A
Likely pathogenicPROVISIONAL
 2011-12-07
intron 9
c.886-1G>A
-
c.886-1G>A
Likely pathogenicVALIDATED
 2011-09-01
exon 8
c.683C>T
p.(Pro228Leu)
P228L
Likely pathogenicVALIDATED
 2011-09-01
exon 5
c.449C>T
p.(Ser150Leu)
S150L
Likely pathogenicVALIDATED
 2011-09-01
exon 10
c.956G>C
p.(Cys319Ser)
C319S
UnsolvedUNSOLVED
 2011-05-26
exon 7
c.635_637del
p.(Gly212del)
G212del
PathogenicVALIDATED
 2011-05-26
exon 9
c.784G>C
p.(Ala262Pro)
A262P
UnsolvedUNSOLVED
 2011-03-17
exon 7
c.634G>A
p.(Gly212Arg)
G212R
Likely pathogenicVALIDATED
 2011-03-10
exon 7
c.655G>T
p.(Gly219Trp)
G219W
Likely pathogenicVALIDATED
 2011-03-10
intron 10
c.1040-1G>A
-
c.1040-1G>A
Likely pathogenicVALIDATED
 2011-03-04
exon 5
c.443C>T
p.(Ala148Val)
A148V
Likely pathogenicVALIDATED
 2011-03-04
exon 10
c.1004G>A
p.(Gly335Asp)
G335D
Likely pathogenicVALIDATED
 2011-03-04
exon 10
c.1013G>A
p.(Gly338Asp)
G338D
Likely pathogenicVALIDATED
 2011-03-04
exon 11
c.1126G>A
p.(Gly376Ser)
G376S
Likely pathogenicVALIDATED
 2011-03-04
exon 10
c.893T>C
p.(Ile298Thr)
I298T
Likely pathogenicVALIDATED
 2011-03-04
exon 11
c.1136T>A
p.(Ile379Asn)
I379N
Likely pathogenicVALIDATED
 2011-03-04
exon 4
c.350T>C
p.(Leu117Pro)
L117P
Likely pathogenicVALIDATED
 2011-03-04
exon 3
c.151C>T
p.(Leu51Phe)
L51F
Likely pathogenicPROVISIONAL
 2011-03-04
exon 7
c.652C>T
p.(Gln218*)
Q218X
PathogenicVALIDATED
 2011-03-04
exon 11
c.1169A>C
p.(Gln390Pro)
Q390P
Likely pathogenicVALIDATED
 2011-03-04
exon 3
c.107G>C
p.(Arg36Thr)
R36T
Likely pathogenicPROVISIONAL
 2011-03-04
exon 10
c.928G>T
p.(Val310Leu)
V310L
Likely pathogenicVALIDATED
 2011-03-04
exon 10
c.962T>C
p.(Val321Ala)
V321A
Likely pathogenicPROVISIONAL
 2011-03-04
exon 5
c.401G>A
p.(Trp134*)
W134X
PathogenicVALIDATED
 2011-03-04
exon 5
c.475_478del
p.(Thr159Cysfs*9)
T159fs
PathogenicVALIDATED
 2011-03-04
exon 8
c.689T>C
p.(Leu230Pro)
L230P
Likely pathogenicPROVISIONAL
 2010-09-29
exon 2
c.14T>C
p.(Val5Ala)
V5A
Uncertain significance (VUS)PROVISIONAL
 2010-08-26
intron 2
c.78+3A>G
-
c.78+3A>G
Uncertain significance (VUS)PROVISIONAL
 2010-07-23
exon 3
c.118C>T
p.(Arg40Trp )
R40W
Likely pathogenicVALIDATED
 2010-05-18
exon 11
c.1151C>T
p.(Ser384Phe)
S384F
Uncertain significance (VUS)PROVISIONAL
 2009-10-16
exon 4
c.346T>C
p.(Tyr116His)
Y116H
Likely pathogenicVALIDATED
 2009-09-10
intron 3
c.227-3C>G
-
c.227-3C>G
UnsolvedUNSOLVED
 2008-04-30
exon 8
c.721C>T
p.(Arg241Cys)
R241C
PathogenicVALIDATED
 2008-04-30
exon 9
c.857C>T
p.(Pro286Leu)
P286L
Uncertain significance (VUS)VALIDATED
 2008-02-26
exon 11
c.1156G>A
p.(Asp386Asn)
D386N
Uncertain significance (VUS)VALIDATED
 2008-02-26
exon 3
c.86del
p.(Leu29Argfs*5)
L29fs
PathogenicVALIDATED
 2008-02-26
exon 2
c.52G>A
p.(Gly18Arg)
G18R
Likely pathogenicVALIDATED
 2007-08-22
intron 2
c.78+2del
-
IVS2+2delT
Likely pathogenicVALIDATED
 2007-07-03
exon 5
c.439G>A
p.(Ala147Thr)
A147T
Likely pathogenicVALIDATED
 2006-09-21
exon 6
c.613A>G
p.(Asn205Asp)
N205D
Likely pathogenicVALIDATED
 2006-09-21
exon 8
c.701T>C
p.(Leu234Pro)
L234P
PathogenicVALIDATED
 2006-09-21
exon 8
c.709A>T
p.(Thr237Ser)
T237S
PathogenicVALIDATED
 2006-09-21
exon 10
c.965C>G
p.(Thr322Ser)
T322S
Likely pathogenicVALIDATED
 2006-09-21
exon 3
c.129_130del
p.(His44Glnfs*35)
H44fs
PathogenicVALIDATED
 2006-09-21
exon 4
c.277_283del
p.(Glu93Glnfs*38)
E93fs
PathogenicVALIDATED
 2006-09-21
exon 4
c.340_344del
p.(Tyr114Ilefs*71)
Y114fs
PathogenicVALIDATED
 2006-09-21
exon 6
c.571del
p.(Gln191Lysfs*5)
Q190fs
PathogenicVALIDATED
 2006-09-21
exon 11
c.1095_1098del
p.(Asp366Alafs*110)
D366fs
Likely pathogenicVALIDATED
 2006-09-21
exon 5
c.417dupC
p.(Gly140Argfs*47)
G140fs
Not classifiedTo be validated
 2006-09-21
exon 6
c.607dup
p.(Val203Glyfs*74)
V203fs
Not classifiedTo be validated
 2006-09-21
exon 5
c.503_512delinsAC
p.(Leu168Hisfs*16)
L168fs
Not classifiedTo be validated
 2006-09-21
intron 7
c.678-1G>C
p.?
del Exon 8
Likely pathogenicVALIDATED
 2006-09-21
exon 8
c.684A>G
p.(=)
P228P
Likely benignVALIDATED
 2006-09-21
intron 10
c.1039+1G>T
p.(Glu296Glyfs*14)
E296fs
Likely pathogenicVALIDATED
 2006-08-02
exon 5
c.421del
p.(Ala141Argfs*18)
A141fs (delG)
PathogenicVALIDATED
 2006-07-04
exon 11
c.1162C>T
p.(Arg388*)
R388X
PathogenicVALIDATED
 2006-05-10
intron 4
c.372-3C>T
-
c.372-3C>T
Uncertain significance (VUS)VALIDATED
 2006-05-02
exon 9
c.863C>T
p.(Pro288Leu)
P288L
Uncertain significance (VUS)PROVISIONAL
 2006-05-02
exon 9
c.877G>A
p.(Val293Met)
V293M
Uncertain significance (VUS)VALIDATED
 2006-05-02
exon 10
c.1005C>T
p.(=)
G335G
Likely benignVALIDATED
 2006-05-02
exon 10
c.1006G>A
p.(Gly336Ser)
G336S
Likely pathogenicVALIDATED
 2006-05-02
exon 11
c.1100G>C
p.(Cys367Ser)
C367S
Uncertain significance (VUS)VALIDATED
 2006-05-02
exon 9
c.831C>T
p.(=)
R277R
BenignVALIDATED
 2006-04-27
5 flanking
c.-207T>A
-
c.-207T>A
Not classifiedTo be validated
 2006-04-13
5 flanking
c.-325A>T
-
c.-325A>T
Not classifiedTo be validated
 2006-04-05
exon 9
c.830G>A
p.(Arg277His)
R277H
Likely pathogenicVALIDATED
 2006-01-04
5 flanking
c.-464_-463delGCinsTT
-
c.-464_-463delGCinsTT
Not classifiedTo be validated
 2005-12-29
5 flanking
c.-228G>A
-
c.-228G>A
Not classifiedTo be validated
 2005-12-29
intron 8
c.769-103C>T
-
c.769-103C>T
Likely benignVALIDATED
 2005-12-29
exon 10
c.986G>A
p.(Ser329Asn)
S329N
Likely pathogenicVALIDATED
 2005-10-06
exon 11
c.1132T>C
p.(Ser378Pro)
S378P
Likely pathogenicPROVISIONAL
 2005-03-07
intron 8
c.769-7_769-6dup
-
c.769-7_769-6dupT
Likely benignPROVISIONAL
 2005-01-26
exon 2
c.16_34del
p.(Leu6Glyfs*16)
L6fs
PathogenicVALIDATED
 2004-12-16
exon 2
c.60T>A
p.(His20Gln)
H20Q
PathogenicVALIDATED
 2004-12-16
exon 5
c.394G>A
p.(Val132Ile)
V132I
PathogenicVALIDATED
 2004-12-16
exon 5
c.511G>A
p.(Gly171Arg)
G171R
PathogenicVALIDATED
 2004-12-16
exon 7
c.632G>A
p.(Gly211Glu)
G211E
PathogenicVALIDATED
 2004-12-16
exon 8
c.748G>A
p.(Val250Ile)
V250I
Likely pathogenicVALIDATED
 2004-12-16
exon 11
c.1127G>T
p.(Gly376Val)
G376V
Likely pathogenicVALIDATED
 2004-12-16
exon 4
c.357C>G
p.(Ile119Met)
I119M
Likely pathogenicVALIDATED
 2004-12-16
exon 5
c.405G>A
p.(=)
S135S
BenignVALIDATED
 2004-12-16
exon 10
c.924C>T
p.(=)
L308L
Likely benignVALIDATED
 2004-12-16
exon 11
c.1067C>T
p.(Thr356Met)
T356M
Uncertain significance (VUS)VALIDATED
 2004-12-16
intron 2
c.78+61A>G
-
c.78+61A>G
Likely benignVALIDATED
 2004-12-16
intron 2
c.78+177G>A
-
c.78+177G>A
Likely benignVALIDATED
 2004-12-16
intron 2
c.79-62G>A
-
c.79-62G>A
Likely benignVALIDATED
 2004-12-16
intron 4
c.371+8C>T
-
c.371+8C>T
Likely benignVALIDATED
 2004-12-16
intron 6
c.632-18A>G
-
c.632-18A>G
Likely benignVALIDATED
 2004-12-16
3UT
c.*11C>T
-
c.1202C>T
Uncertain significance (VUS)VALIDATED
 2004-12-16
intron 6
c.632-71A>G
-
c.632-71A>G
Likely benignVALIDATED
 2004-12-16
intron 8
c.768+23G>C
-
c.768+23G>C
Likely benignVALIDATED
 2004-12-16
exon 9
c.794T>G
p.(Leu265Arg)
L265R
PathogenicVALIDATED
 2004-10-05
exon 6
c.608T>C
p.(Val203Ala)
V203A
PathogenicVALIDATED
 2004-03-18
intron 8
c.769-7T>G
-
c.769-7T>G
Likely benignVALIDATED
 2004-03-08
exon 2
c.75C>T
p.(Lys26Serfs*52)
G25G
Likely pathogenicVALIDATED
 2003-12-15
exon 6
c.591C>T
p.(His197His)
H197H
Likely benignVALIDATED
 2003-10-15
exon 2
c.22G>C
p.(Val8Leu)
V8L
Likely pathogenicVALIDATED
 2003-10-13
exon 4
c.238G>A
p.(Val80Ile)
V80I
Likely benignVALIDATED
 2003-10-08
exon 10
c.987C>A
p.(Ser329Arg)
S329R
Likely pathogenicPROVISIONAL
 2003-09-23
exon 3
c.79_226del
p.(Val27Serfs*16)
del EXON 3
PathogenicVALIDATED
 2003-09-23
intron 8
c.769-38C>T
-
c.769-38 C>T
Likely benignVALIDATED
 2003-09-18
exon 7
c.632G>C
p.(Gly211Ala)
G211A
Likely pathogenicVALIDATED
 2003-09-12
exon 11
c.1139A>G
p.(His380Arg)
H380R
Likely pathogenicVALIDATED
 2003-08-29
exon 2
c.72dup
p.(Gly25Trpfs*55)
G25fs
PathogenicVALIDATED
 2003-08-04
exon 5
c.421dupG
p.(Ala141Glyfs*46)
A141fs (dupG)
Not classifiedTo be validated
 2003-08-04
intron 9
c.885+24G>A
-
c.885+24G>A
Likely benignVALIDATED
 2003-07-25
exon 10
c.902A>C
p.(Asn301Thr)
N301T
PathogenicVALIDATED
 2003-07-22
exon 10
c.928G>A
p.(Val310Met)
V310M
PathogenicVALIDATED
 2003-07-22
exon 5
c.516T>C
p.(=)
D172D
Likely benignVALIDATED
 2003-07-22
exon 9
c.780C>A
p.(=)
I260I
Likely benignVALIDATED
 2003-07-22
exon 9
c.829C>T
p.(Arg277Cys)
R277C
PathogenicVALIDATED
 2003-07-22
exon 3
c.104T>C
p.(Leu35Ser)
L35S
PathogenicVALIDATED
 2003-07-21
exon 8
c.728C>T
p.(Thr243Ile)
T243I
Likely pathogenicVALIDATED
 2003-07-21
exon 9
c.790C>T
p.(Leu264Phe)
L264F
Likely pathogenicPROVISIONAL
 2003-07-21
exon 9
c.794T>C
p.(Leu265Pro)
L265P
PathogenicVALIDATED
 2003-07-21
exon 10
c.1000G>A
p.(Ala334Thr)
A334T
PathogenicVALIDATED
 2003-07-21
exon 9
c.815C>T
p.(Ser272Phe)
S272F
Likely pathogenicVALIDATED
 2003-07-21
exon 8
c.737T>C
p.(Leu246Pro)
L246P
Likely pathogenicVALIDATED
 2003-04-04
exon 6
c.564G>A
p.(Trp188*)
W188X
PathogenicVALIDATED
 2003-02-25
5UT
c.-14_78del
p.(Met1_Lys26del)
del EXON 2
Likely pathogenicVALIDATED
 2002-05-27
exon 5
c.372_527del
p.(Ala125_Arg176del)
del EXON 5
PathogenicVALIDATED
 2002-05-27
3UT
c.*58dupG
-
1245-1246INSG
Not classifiedTo be validated
 2002-05-27
exon 10
c.976G>A
p.(Gly326Arg)
G326R
Likely pathogenicPROVISIONAL
 2002-02-06
exon 2
c.59A>C
p.(His20Pro)
H20P
PathogenicVALIDATED
 2002-02-05
exon 2
c.58C>A
p.(His20Asn)
H20N
PathogenicVALIDATED
 2002-02-05
exon 3
c.116T>C
p.(Leu39Pro)
L39P
PathogenicVALIDATED
 2002-02-05
exon 5
c.404C>T
p.(Ser135Leu)
S135L
Likely pathogenicVALIDATED
 2002-02-05
exon 5
c.442G>A
p.(Ala148Thr)
A148T
Likely pathogenicVALIDATED
 2002-02-05
exon 5
c.447C>G
p.(Tyr149*)
Y149X
PathogenicVALIDATED
 2002-02-05
exon 5
c.494C>T
p.(Pro165Leu)
P165L
Likely pathogenicVALIDATED
 2002-02-05
exon 6
c.604G>A
p.(Gly202Arg)
G202R
PathogenicVALIDATED
 2002-02-05
exon 6
c.625A>G
p.(Thr209Ala)
T209A
Likely pathogenicVALIDATED
 2002-02-05
exon 7
c.644G>A
p.(Arg215Gln)
R215Q
Likely pathogenicVALIDATED
 2002-02-05
exon 9
c.803T>C
p.(Ile268Thr)
I268T
PathogenicVALIDATED
 2002-02-05
exon 10
c.925G>A
p.(Gly309Ser)
G309S
PathogenicVALIDATED
 2002-02-05
exon 11
c.1129G>A
p.(Val377Ile)
V377I
PathogenicVALIDATED
 2002-02-05
exon 5
c.510C>T
p.(=)
D170D
BenignVALIDATED
 2002-02-05
exon 3
c.185G>A
p.(Trp62*)
W62X(c.185)
PathogenicVALIDATED
 2002-02-05
exon 2
c.37A>T
p.(Lys13*)
K13X
PathogenicVALIDATED
 2002-02-05
exon 3
c.155G>A
p.(Ser52Asn)
S52N
BenignVALIDATED
 2002-02-05