A: The variant NC_000021.9:g.45991037A>G in gene COL6A1 is classified as 'Conflicting_classifications_of_pathogenicity' for Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900. Review status: criteria provided, conflicting classifications.