A: The variant NC_000021.9:g.45997715C>A in gene COL6A1 is classified as 'Uncertain_significance' for not_provided|Inborn_genetic_diseases|Collagen_6-related_myopathy|Bethlem_myopathy_1A. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610. Review status: criteria provided, multiple submitters, no conflicts.