A: The variant NC_000021.9:g.46112458C>T in gene COL6A2 is classified as 'Likely_pathogenic' for Bethlem_myopathy_1B. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0958233,MedGen:C5935580,OMIM:620725. Review status: criteria provided, single submitter.