A: The variant NC_000023.11:g.13714501G>T in gene TRAPPC2 is classified as 'Pathogenic' for Spondyloepiphyseal_dysplasia_tarda. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284. Review status: no assertion criteria provided.