A: The variant NC_000023.11:g.13719873T>A in gene TRAPPC2 is classified as 'Pathogenic' for Spondyloepiphyseal_dysplasia_tarda,_X-linked. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400. Review status: no assertion criteria provided.