A: The variant NC_000019.10:g.38446706T>G in gene RYR1 is classified as 'not_provided' for Congenital_myopathy_with_fiber_type_disproportion. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020. Review status: no classification provided.