This variant lies on Chromosome 15 and affects the gene ENTREP2, NSMCE3 (endosomal transmembrane epsin interactor 2| NSE3 homolog, SMC5-SMC6 complex component). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Lung damage, immunodeficiency and chromosome breakage syndrome