A: The variant NC_000019.10:g.38504316AC[1] in gene RYR1 is classified as 'Likely_pathogenic' for Congenital_multicore_myopathy_with_external_ophthalmoplegia. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905. Review status: criteria provided, single submitter.