A variant has been detected on Chromosome 12 in ATP2A2, LOC126861637 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2| MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Keratosis follicularis