Gene ATP2A2, LOC126861637 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2| MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not provided