Consider this mutation in LOC126862501, MYH2, MYHAS (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455| myosin heavy chain 2| myosin heavy chain gene cluster antisense RNA) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Myopathy, proximal, and ophthalmoplegia