This genomic variant is located on Chromosome 11, within the BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Charcot-Marie-Tooth disease type 2