Gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Charcot-Marie-Tooth disease type 2