A: The variant NC_000019.10:g.38494594C>T in gene RYR1 is classified as 'Pathogenic' for RYR1-related_disorder|Congenital_multicore_myopathy_with_external_ophthalmoplegia. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN239331|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, multiple submitters, no conflicts.