A: The variant NC_000020.11:g.10412556AG[1] in gene MKKS is classified as 'Pathogenic/Likely_pathogenic' for Multicystic_kidney_dysplasia|Polycystic_kidney_disease|McKusick-Kaufman_syndrome|Bardet-Biedl_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: Human_Phenotype_Ontology:HP:0000003,Human_Phenotype_Ontology:HP:0004715,MONDO:MONDO:0015988,MedGen:C3714581,Orphanet:1851|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110. Review status: criteria provided, multiple submitters, no conflicts.