A: The variant NC_000019.10:g.18786633C>T in gene COMP is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Multiple_epiphyseal_dysplasia_type_1|Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Carpal_tunnel_syndrome_2|Multiple_epiphyseal_dysplasia. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308|MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750|MONDO:MONDO:0030883,MedGen:C5436916,OMIM:619161|Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251. Review status: criteria provided, multiple submitters, no conflicts.