A: The variant NC_000023.11:g.13719924del in gene TRAPPC2 is classified as 'Pathogenic' for Spondyloepiphyseal_dysplasia_tarda. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284. Review status: no assertion criteria provided.