A: The variant NC_000023.11:g.13719982C>A in gene TRAPPC2 is classified as 'Uncertain_significance' for Spondyloepiphyseal_dysplasia_tarda,_X-linked. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400. Review status: criteria provided, single submitter.