Table 1 Identity, position, classification, and frequency of MFN2 variants characterized in this study.

From: A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot–Marie-Tooth disease of type 2 A

  1. Nucleotide variant, resulting missense mutation, variation ID and allele frequency (count) of SNVs present in the GnomAD database. the phenotype in HGMD and the classification of variants in ClinVar, LOVD and the study by Pipis et al.4 is indicated: P: pathogenic (red), LP: likely pathogenic (orange), CI: conflicting interpretations, VUS: variant of unknown significance. LB: likely benign (green). B: benign (green). The numbers in brackets (#) depict the number of submissions (ClinVar), entries (LOVD) or families (INVB). The inheritance mode reported in Pipis et al.4 is indicated in brackets: AD/AR: autosomar dominant/recessive, SD: semidominant. HGMD: the human gene mutation database. LOVD: Leiden open variation database. INVB: inherited neuropathy variant browser.
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