A: The variant NC_000023.11:g.13716080A>G in gene TRAPPC2 is classified as 'Likely_pathogenic' for Connective_tissue_disorder|Spondyloepiphyseal_dysplasia_tarda. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284. Review status: criteria provided, single submitter.