A: The variant NC_000020.11:g.10405626A>C in gene MKKS is classified as 'Likely_pathogenic' for not_provided|McKusick-Kaufman_syndrome. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473. Review status: criteria provided, single submitter.