A: The variant NC_000020.11:g.10413073G>A in gene MKKS is classified as 'Pathogenic' for BARDET-BIEDL_SYNDROME_2/6,_DIGENIC. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C4016908. Review status: no assertion criteria provided.