A: The variant NC_000020.11:g.43603845A>G in gene IFT52 is classified as 'Pathogenic' for Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014915,MedGen:C4310718,OMIM:617102. Review status: no assertion criteria provided.