Mutation

Exon /
Domain

Citations

1

CHMP2B
   (g.-101C>T)
   Not pathogenic

EX1

Kaivorinne AL, 2010

2

CHMP2B Thr9
   (g.27C>T)
   Not pathogenic

EX1
N-Term

Momeni P, 2006
Urwin H, 2010
Kaivorinne AL, 2010

3

CHMP2B Ile29Val
   (g.13227A>G)
   Pathogenic nature unclear

EX2
Snf7

Cannon A, 2006
Parkinson N, 2006
Cox L, 2010

4

CHMP2B Thr104Asn
   (g.18376C>A)
   Pathogenic nature unclear

EX3
Snf7

Cox L, 2010

5

CHMP2B Thr104
   (g.18377T>C)
   Not pathogenic

EX3
Snf7

Cannon A, 2006
Momeni P, 2006
Kaivorinne AL, 2010

6

CHMP2B Thr124
   (g.22403A>C)
   Not pathogenic

EX4
Snf7

Cannon A, 2006
Momeni P, 2006
Urwin H, 2010
Kaivorinne AL, 2010

7

CHMP2B Asn143Ser
   (g.25885A>G)
   Pathogenic nature unclear

EX5
Snf7

van der Zee J, 2007

8

CHMP2B Asp148Tyr
   (g.25899G>T)

EX5
Snf7

Skibinski G, 2005

9

CHMP2B Gln165X
   (g.25950C>T)

EX5
Snf7

van der Zee J, 2007
van der Zee J, 2008

10

CHMP2B Danish CHMP2B
   (g.26189G>C)

IVS5
Snf7

Skibinski G, 2005
Lindquist SG, 2008

11

CHMP2B Arg186X;Afrikaner CHMP2B
   (g.26214C>T)
   Pathogenic nature unclear

EX6
C-Term

Momeni P, 2006

12

CHMP2B Gln206His
   (g.26276A>C)

EX6
C-Term

Parkinson N, 2006
Cox L, 2010