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(1610)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

c.1870-45_2355+189del

Intron 5_intron 8 del

g.51961958_51958122del

n.a

exon6_8

MBD6/TM1

Large fragment deletion

n.a

n.a

Pathogenic

21707886

c.1870-65G>A

n.a

g.51961978C>T

rs9535809

intron5

/

/

n.a

n.a

Benign

15967699

c.1870-23A>C

n.a

g.51961936T>G

n.a

intron5

/

/

n.a

n.a

Uncertain significance

16133174

c.1870-8A>G

n.a

g.51961921T>C

n.a

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

29618506,29930488

c.1870-3A>G

n.a

g.51961916T>C

n.a

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

33869661

c.1870-2A>G

n.a

g.51961915T>C

n.a

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

18286826

c.1870-2delA

n.a

g.51961915del

n.a

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

9554743

c.1870-1G>A

n.a

g.51961914G>T

rs780361833

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

L72310432 (Embase)

c.1870-49A>G

n.a

g.51961962T>C

rs1429105377

intron5

MBD6/TM1

Splicing

n.a

n.a

Likely pathogenic

36343861

c.1869+1G>T

n.a

g.51964871C>A

rs1951463905

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

21956287

c.1869+2T>C

n.a

g.51964870A>G

n.a

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

22677543

c.1869+1_+4delGTAA

n.a

g.51964868_51964871del

n.a

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

23551039

c.1869+9_+17del

n.a

g.51964855_51964863del

n.a

intron5

/

/

n.a

n.a

Likely benign

35220961

c.1869+20A>G

n.a

g.51964852T>C

rs566255910

intron5

MBD6/TM1

Splicing

n.a

n.a

Uncertain significance

37020998

c.1857C>A

p.Ile619Ile

g.51964884G>T

rs765501756

exon5

MBD6

Silent

n.a

n.a

Likely benign

L2007097869 (Embase)

c.1850delA

p.Asp617Valfs*31

g.51964891del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

28515472

c.1849dupG

p.Asp617Glyfs*7

g.51964892dup

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

15811015

c.1849delG

p.Asp617Ilefs*31

g.51964892del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

22484412

c.1847G>A

p.Arg616Gln

g.51964894C>T

rs752850609

exon5

MBD6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

10502777

c.1846C>T

p.Arg616Trp

g.51964895G>A

rs374172791

exon5

MBD6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

11690702

c.1841G>A

p.Gly614Asp

g.51964900C>T

rs1951465769

exon5

MBD6

Missense

/

Probably damaging (0.999)

Likely pathogenic

33804940

c.1839C>T

p.Ile613Ile

g.51964902G>A

rs370476756

exon5

MBD6

Silent

n.a

n.a

Likely benign

21796144

c.1831G>A

p.Glu611Lys

g.51964910C>T

n.a

exon5

MBD6

Missense

/

Probably damaging (0.998)

Likely pathogenic

21219664

c.1823_1825delTTG

p.608_609delinsTyr

g.51964916_51964918del

n.a

exon5

MBD6

Inframe deletion/insertion

n.a

n.a

Likely pathogenic

9671269

c.1820dupA

p.Phe608Valfs*2

g.51964921dup

rs1057516940

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

15524314

c.1817T>G

p.Val606Gly

g.51964924A>C

rs1173050016

exon5

MBD6

Missense

Damaging (0.005)

Probably damaging (0.979)

Likely pathogenic

23235335

c.1811C>A

p.Ala604Asp

g.51964930G>T

rs959916899

exon5

MBD6

Missense

/

Probably damaging (0.999)

Likely pathogenic

34400371

c.1810G>C

p.Ala604Pro

g.51964931C>G

n.a

exon5

MBD6

Missense

/

Probably damaging (1.000)

Pathogenic

16088907

c.1803delC

p.Ser602Alafs*46

g.51964938del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

14986826

c.1802C>T

p.Thr601Ile

g.51964939G>A

rs1951468040

exon5

MBD6

Missense

/

/

Uncertain significance

36096368

c.1799_1800delCC

p.Ala600Aspfs*7

g.51964941_51964942del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

35220961

c.1783G>A

p.Ala595Thr

g.51964958C>T

n.a

exon5

MBD6

Missense

/

Probably damaging (0.996)

Likely pathogenic

24094725

c.*1782C>G

n.a

g.51932974G>C

rs928169

3'UTR

/

UTR

n.a

n.a

Benign

24094725

c.1782delT

p.Tyr594*

g.51964959del

rs780327716

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

8533760

c.1782T>A

p.Tyr594*

g.51964959A>T

n.a

exon5

MBD6

Nonsense

n.a

n.a

Pathogenic

27022412

c.1774A>T

p.Ile592Phe

g.51964967T>A

n.a

exon5

MBD6

Missense

Damaging (0.001)

Probably damaging (0.988)

Likely pathogenic

30702195

c.1773C>G

p.Gly591Gly

g.51964968G>C

rs1323943368

exon5

MBD6

Silent

n.a

n.a

Likely benign

17300695

c.1772G>A

p.Gly591Asp

g.51964969C>T

rs797045402

exon5

MBD6

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

16088907

c.1772G>T

p.Gly591Val

g.51964969C>A

rs797045402

exon5

MBD6

Missense

/

/

Likely pathogenic

36112267

c.1771G>A

p.Gly591Ser

g.51964970C>T

rs1566559224

exon5

MBD6

Missense

/

Probably damaging (1.000)

Likely pathogenic

17823867

c.1771G>C

p.Gly591Ser

g.51964970C>G

rs1566559224

exon5

MBD6

Missense

/

Probably damaging (1.000)

Likely pathogenic

24094725

c.1770dupT

p.Gly591Trpfs*15

g.51964971dup

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

30230192

c.1766delC

p.Thr589Lysfs*59

g.51964975del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

23518715

c.1760C>T

p.Thr587Met

g.51964981G>A

rs757716093

exon5

MBD6

Missense

/

Benign(0.001)

Likely benign

27022412

c.1757T>A

p.Leu586His

g.51964984A>T

n.a

exon5

MBD6

Missense

/

Probably damaging (1.000)

Likely pathogenic

L2007097869 (Embase)

c.1755A>G

p.Lys585Lys

g.51964986T>C

n.a

exon5

MBD6

Silent

n.a

n.a

Likely benign

15952988

c.1752C>G

p.Ser584Ser

g.51964989G>C

n.a

exon5

MBD6

Silent

n.a

n.a

Likely benign

24094725

c.1748_1749delAG

p.Glu583Valfs*24

g.51964992_51964993del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

17949296

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

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