A: The variant NC_000021.9:g.33557317G>A in gene SON is classified as 'Pathogenic' for ZTTK_syndrome|not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014936,MedGen:C4310696,OMIM:617140,Orphanet:500150|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.