A: The variant NC_000021.9:g.46112173C>T in gene COL6A2 is classified as 'Pathogenic' for Ullrich_congenital_muscular_dystrophy_1B. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0958235,MedGen:C5935582,OMIM:620727. Review status: criteria provided, single submitter.