A: The variant NC_000019.10:g.18787584A>G in gene COMP is classified as 'Pathogenic' for not_provided|Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750. Review status: criteria provided, single submitter.