A: The variant NC_000019.10:g.38583494A>G in gene RYR1 is classified as 'Pathogenic' for Congenital_multicore_myopathy_with_external_ophthalmoplegia|not_provided. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MedGen:C3661900. Review status: no assertion criteria provided.