A: The variant NC_000019.10:g.38517524G>A in gene RYR1 is classified as 'Pathogenic' for RYR1-related_disorder|Abnormality_of_the_musculature. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN239331|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745. Review status: criteria provided, multiple submitters, no conflicts.