A: The variant NC_000020.11:g.10413100G>A in gene MKKS is classified as 'Pathogenic' for Inborn_genetic_diseases|Bardet-Biedl_syndrome_6|McKusick-Kaufman_syndrome|MKKS-related_disorder. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|.. Review status: criteria provided, multiple submitters, no conflicts.