A: The variant NC_000021.9:g.45997447del in gene COL6A1 is classified as 'Pathogenic' for not_specified|Bethlem_myopathy_1A|not_provided|COL6A1-related_disorder. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900|.. Review status: criteria provided, multiple submitters, no conflicts.