A: The variant NC_000021.9:g.45989776_45989778del in gene COL6A1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Ullrich_congenital_muscular_dystrophy_1A|Bethlem_myopathy_1A. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MedGen:C3661900|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610. Review status: criteria provided, multiple submitters, no conflicts.