A: The variant NC_000019.10:g.18786034_18786039del in gene COMP is classified as 'Likely_pathogenic' for Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750. Review status: criteria provided, single submitter.