A: The variant NC_000020.11:g.10431819del in gene MKKS is classified as 'Uncertain_significance' for McKusick-Kaufman_syndrome|Bardet-Biedl_syndrome. Molecular consequence: SO:0001623: 5_prime_UTR_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110. Review status: criteria provided, single submitter.