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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.