A: The variant NC_000021.9:g.46124699G>C in gene COL6A2 is classified as 'Conflicting_classifications_of_pathogenicity' for Collagen_6-related_myopathy|not_provided|COL6A2-related_disorder|Bethlem_myopathy_1A|not_specified|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|.|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:CN169374|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, conflicting classifications.