A: The variant NC_000019.10:g.47477786A>G in gene KPTN is classified as 'Likely_benign' for Macrocephaly-developmental_delay_syndrome. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612. Review status: criteria provided, single submitter.