A: The variant NC_000023.11:g.13714438_13714439del in gene TRAPPC2 is classified as 'Likely_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: criteria provided, single submitter.