A: The variant NC_000023.11:g.13716628dup in gene TRAPPC2 is classified as 'Likely_pathogenic' for Spondyloepiphyseal_dysplasia_tarda,_X-linked. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400. Review status: criteria provided, single submitter.