The gene LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1