A: The variant NC_000019.10:g.38485988C>A in gene RYR1 is classified as 'Pathogenic' for Congenital_myopathy_with_fiber_type_disproportion|RYR1-related_disorder. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MedGen:CN239331. Review status: criteria provided, single submitter.