A: The variant NC_000023.11:g.13716580CA[1] in gene TRAPPC2 is classified as 'Pathogenic' for Spondyloepiphyseal_dysplasia_tarda|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.