A: The variant NC_000020.11:g.10413134_10413140dup in gene MKKS is classified as 'Pathogenic' for Bardet-Biedl_syndrome|McKusick-Kaufman_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473. Review status: criteria provided, single submitter.