A: The variant NC_000019.10:g.47476728G>A in gene KPTN is classified as 'Benign' for Macrocephaly-developmental_delay_syndrome|not_provided. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.