A: The variant NC_000021.9:g.46003879G>A in gene COL6A1 is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Bethlem_myopathy_1A. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610. Review status: criteria provided, conflicting classifications.