This variant lies on Chromosome X and affects the gene CLCN5, LOC126863258 (chloride voltage-gated channel 5| BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Dent disease type 1