A: The variant NC_000022.11:g.36762962G>C in gene IFT27 is classified as 'Pathogenic' for Jeune_thoracic_dystrophy|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MedGen:C3661900. Review status: criteria provided, single submitter.