A: The variant NC_000019.10:g.38507783T>C in gene RYR1 is classified as 'Pathogenic' for RYR1-related_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_multicore_myopathy_with_external_ophthalmoplegia|Abnormality_of_the_musculature|RYR1-related_disorder|not_provided|Centronuclear_myopathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0100150,MedGen:CN305348|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745|MedGen:CN239331|MedGen:C3661900|MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595. Review status: reviewed by expert panel.