A: The variant NC_000023.11:g.13716635AG[1] in gene TRAPPC2 is classified as 'Pathogenic' for Spondyloepiphyseal_dysplasia_tarda,_X-linked. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400. Review status: criteria provided, single submitter.