This variant lies on Chromosome 17 and affects the gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Infantile cortical hyperostosis