A: The variant NC_000020.11:g.10412639_10412642dup in gene MKKS is classified as 'Pathogenic' for MKKS-related_disorder|Bardet-Biedl_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: .|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110. Review status: no assertion criteria provided.