A: The variant NC_000019.10:g.47475435G>T in gene KPTN is classified as 'Uncertain_significance' for Macrocephaly-developmental_delay_syndrome. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612. Review status: criteria provided, single submitter.