A: The variant NC_000019.10:g.38506860C>A in gene RYR1 is classified as 'Pathogenic' for Myopathy. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848. Review status: criteria provided, single submitter.