A: The variant NC_000023.11:g.13714140_13714141insA in gene TRAPPC2 is classified as 'Uncertain_significance' for Spondyloepiphyseal_dysplasia_congenita. Molecular consequence: SO:0001624: 3_prime_UTR_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900,Orphanet:94068. Review status: criteria provided, single submitter.