A: The variant NC_000019.10:g.18783058dup in gene COMP is classified as 'Pathogenic' for Multiple_epiphyseal_dysplasia_type_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308. Review status: no assertion criteria provided.