A: The variant NC_000019.10:g.18784928G>A in gene COMP is classified as 'Uncertain_significance' for not_provided|Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Inborn_genetic_diseases. 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|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.