A: The variant NC_000021.9:g.46121060G>A in gene COL6A2 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|COL6A2-related_disorder. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|.. Review status: criteria provided, multiple submitters, no conflicts.