A: The variant NC_000019.10:g.18786096T>C in gene COMP is classified as 'Pathogenic' for Epiphyseal_dysplasia,_multiple,_1,_severe. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C4016660. Review status: no assertion criteria provided.