A: The variant NC_000019.10:g.18783128C>G in gene COMP is classified as 'Pathogenic' for Multiple_epiphyseal_dysplasia|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251|MedGen:C3661900. Review status: criteria provided, single submitter.