A variant affecting Chromosome 11, within the gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Neuronopathy, distal hereditary motor, type 5A