A: The variant NC_000020.11:g.62818516A>G in gene COL9A3 is classified as 'Pathogenic' for Epiphyseal_dysplasia,_multiple,_3. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010964,MedGen:C1832998,OMIM:600969. Review status: criteria provided, single submitter.