A: The variant NC_000021.9:g.45989779G>A in gene COL6A1 is classified as 'Pathogenic' for COL6A1-related_disorder|Bethlem_myopathy_1A|not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: .|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.