A: The variant NC_000020.11:g.43624000del in gene IFT52 is classified as 'Pathogenic/Likely_pathogenic' for Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly|Short_rib-polydactyly_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014915,MedGen:C4310718,OMIM:617102|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505. Review status: no assertion criteria provided.