A: The variant NC_000021.9:g.46112317_46112318insCA in gene COL6A2 is classified as 'Likely_pathogenic' for Ullrich_congenital_muscular_dystrophy_1A. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840. Review status: criteria provided, single submitter.