A: The variant NC_000019.10:g.18785056G>A in gene COMP is classified as 'Pathogenic' for not_provided|Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Multiple_epiphyseal_dysplasia|COMP-related_disorder. 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|Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251|.. Review status: criteria provided, multiple submitters, no conflicts.