A: The variant NC_000021.9:g.46121558del in gene COL6A2 is classified as 'Pathogenic' for Bethlem_myopathy_1A|Ullrich_congenital_muscular_dystrophy_1A|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.