A: The variant NC_000021.9:g.45997703del in gene COL6A1 is classified as 'Pathogenic' for Ullrich_congenital_muscular_dystrophy_1A. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840. Review status: no assertion criteria provided.