A: The variant NC_000021.9:g.46124921del in gene COL6A2 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|COL6A2-related_disorder|Bethlem_myopathy_1A. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|.|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610. Review status: criteria provided, multiple submitters, no conflicts.