A: The variant NC_000023.11:g.13716556CA[1] in gene TRAPPC2 is classified as 'Pathogenic' for Spondyloepiphyseal_dysplasia_tarda. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284. Review status: criteria provided, single submitter.