A: The variant NC_000020.11:g.10412923_10412924del in gene MKKS is classified as 'Pathogenic' for Nephronophthisis. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655. Review status: no assertion criteria provided.