A: The variant NC_000019.10:g.47483294C>T in gene KPTN is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Macrocephaly-developmental_delay_syndrome. Molecular consequence: SO:0001575: splice_donor_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612. Review status: criteria provided, conflicting classifications.