This variant lies on Chromosome 2 and affects the gene LOC126806264, POLR1A (MED14-independent group 3 enhancer GRCh37_chr2:86296595-86297794| RNA polymerase I subunit A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Acrofacial dysostosis Cincinnati type