Given this context: Chromosome 11, gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Neuronopathy, distal hereditary motor, type 5C