A: The variant NC_000021.9:g.46121554A>G in gene COL6A2 is classified as 'Pathogenic' for Bethlem_myopathy_1A|Ullrich_congenital_muscular_dystrophy_1B. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0958235,MedGen:C5935582,OMIM:620727. Review status: criteria provided, single submitter.