This variant lies on Chromosome 16 and affects the gene GALNS, LOC130059762, TRAPPC2L (galactosamine (N-acetyl)-6-sulfatase| ATAC-STARR-seq lymphoblastoid silent region 7883| trafficking protein particle complex subunit 2L). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Mucopolysaccharidosis, MPS-IV-A