A: The variant NC_000021.9:g.45984275C>A in gene COL6A1 is classified as 'Pathogenic' for Ullrich_congenital_muscular_dystrophy_1A. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840. Review status: criteria provided, single submitter.