International Wilson Disease Mutation Database-国际肝豆状核变性基因突变数据库

Welcome to our Wilson Disease Mutation Database

Result(1528)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

c.1747G>C

p.Glu583Gln

g.51964994C>G

n.a

exon5

MBD6

Missense

/

Probably damaging (1.000)

Likely pathogenic

29321352

c.1746dupA

p.Glu583Argfs*25

g.51964995dup

rs1566559605

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

23518715

c.1745dupT

p.Glu583Argfs*25

g.51964996dup

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

7762553,7626145

c.1745_1746delTA

p.Ile582Argfs*25

g.51964995_51964996del

rs753962912

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

7762553,7626145

c.*1744C>T

n.a

g.51933012G>A

rs9535794

3'UTR

/

UTR

n.a

n.a

Likely benign

24094725

c.1743_1744dupCA

p.Ile582Thrfs*2

g.51964997_51964998dup

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

17949296

c.1740delC

p.His580GlnFs*3

g.51965001del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

34400371

c.1739delA

p.His580Profs*3

g.51965002del

rs1555293357

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

22484412,22677543

c.1718_1721dupTGAC

p.Cys575Aspfs*34

g.51965020_51965023dup

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

15524314

c.1716delG

p.Met573*

g.51965025del

rs1057516893

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

23551039

c.1708-?_1946+?del

Intron 4_intron6 del

/

n.a

exon5_6

/

Large fragment deletion

n.a

n.a

Pathogenic

21610751

c.1708-53A>C

n.a

g.51965086T>G

n.a

intron4

MBD6

/

n.a

n.a

Benign

31059521

c.1708-34G>A

n.a

g.51965067C>T

rs780389157

intron4

MBD6

/

n.a

n.a

Likely benign

34400371

c.1708-5T>C

n.a

g.51965038A>G

rs770829226

intron4

MBD6

Splicing

n.a

n.a

Likely pathogenic

14966923

c.1708-5T>G

n.a

g.51965038A>C

rs770829226

intron4

MBD6

Splicing

n.a

n.a

Likely pathogenic

8526905

c.1708-1G>A

n.a

g.51965034C>T

rs137853280

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

11216666,11243728

c.1708-1G>C

n.a

g.51965034C>G

rs137853280

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

7626145,7762553

c.1707+1G>A

n.a

g.51968443C>T

rs377001615

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

30232804

c.1707+2dupT

n.a

g.51968442dup

rs781531824

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

9801873

c.1707+5G>A

n.a

g.51968439C>T

n.a

intron4

MBD6

Splicing

n.a

n.a

Uncertain significance

18483695

c.1707+4_+7delAGTA

n.a

g.51968437_51968440del

rs1951676965

intron4

MBD6

Splicing

n.a

n.a

Uncertain significance

L2004138265 (Embase)

c.1707+10_11dupGT

n.a

g.51968433_51968434dup

rs797045401

intron4

MBD6

/

n.a

n.a

Benign

15952988,15811015

c.1706dupC

p.Ile570Asnfs*38

g.51968445dup

n.a

exon4

MBD6

Frameshift

n.a

n.a

Pathogenic

19172127

c.1705_1707+8del

n.a

g.51968436_51968446del

n.a

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

10502777

c.1705_1707+10del

n.a

g.51968434_51968446del

n.a

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

23567103

c.1697T>A

p.Ile566Asn

g.51968454A>T

n.a

exon4

MBD6

Missense

Damaging (0.002)

Possibly damaging (0.772)

Likely pathogenic

35220961,31172689

c.1682delG

p.Gly561Alafs*8

g.51968469del

n.a

exon4

MBD5/MBD6

Frameshift

n.a

n.a

Pathogenic

35444691

c.1672_1673delGA

p.Asp558Leufs*9

g.51968478_51968479del

n.a

exon4

MBD5/MBD6

Frameshift

n.a

n.a

Pathogenic

9671269

c.1658C>A

p.Ala553Glu

g.51968493G>T

rs1179062239

exon4

MBD5

Missense

/

Probably damaging (0.998)

Likely pathogenic

22677543

c.1649delG

p.Gly550Valfs*19

g.51968502del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1648_1654delGGTTTTG

p.Gly550Argfs*17

g.51968497_51968503del

rs1951680623

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

15524314

c.1646T>C

p.Leu549Pro

g.51968505A>G

rs1951681205

exon4

MBD5

Missense

/

Probably damaging (1.000)

Likely pathogenic

18483695

c.1639C>T

p.Gln547*

g.51968512G>A

rs996419100

exon4

MBD5

Nonsense

n.a

n.a

Pathogenic

27022412

c.1639delC

p.Gln547Argfs*22

g.51968512del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

9482578

c.1630C>T

p.Gln544*

g.51968521G>A

rs766906034

exon4

MBD5

Nonsense

n.a

n.a

Pathogenic

8980283

c.(?_-1627)_(51+1_52-1)del

5'UTR_Intron 1 del

n.a

n.a

exon1

/

Large fragment deletion

n.a

n.a

Pathogenic

32043565

c.1621G>A

p.Glu541Lys

g.51968530C>T

rs187046823

exon4

MBD5

Missense

/

Benign(0.006)

Uncertain significance

30097039

c.1620C>T

p.Leu540Leu

g.51968531G>A

rs145798966

exon4

MBD5

Silent/Splicing

n.a

n.a

Likely benign

27022412,33719328

c.1616C>A

p.Pro539His

g.51968535G>T

rs572122562

exon4

MBD5

Missense

/

Probably damaging (0.999)

Likely pathogenic

30120852

c.1616C>T

p.Pro539Leu

g.51968535G>A

rs572122562

exon4

MBD5

Missense

/

Possibly damaging(0.842)

Likely pathogenic

22763723

c.1612C>T

p.Gln538*

g.51968539G>A

n.a

exon4

MBD5

Nonsense

n.a

n.a

Pathogenic

L2015092230 (Embase)

c.1607T>C

p.Val536Ala

g.51968544A>G

rs138427376

exon4

MBD5

Missense

/

Benign(0.003)

Likely benign

18373411

c.1606G>A

p.Val536Ile

g.51968545C>T

n.a

exon4

MBD5

Missense

/

Benign(0.001)

Uncertain significance

29321352

c.1606G>C

p.Val536Leu

g.51968545C>G

n.a

exon4

MBD5

Missense

/

Benign(0.001)

Uncertain significance

29321352

c.1604_1605delAG

p.Glu535Glyfs*17

g.51968546_51968547del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1603G>T

p.Glu535*

g.51968548C>A

n.a

exon4

MBD5

Nonsense

n.a

n.a

Pathogenic

L629485041 (Embase)

c.1600C>A

p.Pro534Thr

g.51968551G>T

n.a

exon4

MBD5

Missense

/

Probably damaging (0.999)

Likely pathogenic

30120852

c.1595A>G

p.Tyr532Cys

g.51968556T>C

rs375071383

exon4

MBD5

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

23518715

c.1594T>C

p.Tyr532His

g.51968557A>G

n.a

exon4

MBD5

Missense

/

Probably damaging (1.000)

Pathogenic

16088907

c.1586A>G

p.Glu529Gly

g.51968565T>C

n.a

exon4

MBD5

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

22677543

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