A: The variant NC_000023.11:g.13719866C>T in gene TRAPPC2 is classified as 'Pathogenic' for Spondyloepiphyseal_dysplasia_tarda|not_provided|Spondyloepiphyseal_dysplasia_tarda,_X-linked|Inborn_genetic_diseases. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0019667,MedGen:CN033239,Orphanet:93284|MedGen:C3661900|MONDO:MONDO:0010737,MedGen:C3541456,OMIM:313400|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.