A: The variant NC_000020.11:g.43619022_43619026delinsCA in gene IFT52 is classified as 'Pathogenic' for Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly. Molecular consequence: SO:0001820: inframe_indel. Variant type: Indel. Disease database links: MONDO:MONDO:0014915,MedGen:C4310718,OMIM:617102. Review status: no assertion criteria provided.