A: The variant NC_000021.9:g.46125939G>A in gene COL6A2 is classified as 'Likely_benign' for Bethlem_myopathy_1A. Molecular consequence: SO:0001819: synonymous_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610. Review status: criteria provided, single submitter.