Skip to main content

Table 2 Novel sequence variants not reported in the HGMDp database (†)

From: Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

Gene

cDNA

Protein

Type

het/homo $

Classification £

MPZ

c.679 A > T

p.Arg227*

Nonsense

het

4

c.368 G > T

p.Gly123Val

Missense

het

3

c.410 G > A

p.Gly137Asp

Missense

het

3

NEFL

c.1027_1029del

p.Asp343del

In-frame deletion

het

3

GJB1

c.775del

p.Leu259*

Deletion

hemi

4

MFN2

c.2146_2148dup

p.Ala716dup

In-frame duplication

het

3

c.250 A > G

p.Lys84Glu

Missense

het

3

c.612 T > A

p.Asp204Glu

Missense

het

3

c.653 T > C

p.Leu218Pro

Missense

het

4

c.692 C > T

p.Ser231Phe

Missense

het

3

c.1921 T > C

p.Tyr641His

Missense

het

3

  1. HGMDp version 2013.2.
  2. $het = heterozygous; homo = homozygous; hemi = hemizygous.
  3. £Classification of genetic variants in accordance with the recommendations from the IARC Unclassified Genetic Variants Working Group [14]; 4 = probably disease causing, 3 = variant of uncertain significance.