A: The variant NC_000019.10:g.47479922_47479939dup in gene KPTN is classified as 'Pathogenic/Likely_pathogenic' for not_provided|KPTN-related_disorder|Inborn_genetic_diseases|Macrocephaly-developmental_delay_syndrome. Molecular consequence: SO:0001619: non-coding_transcript_variant,SO:0001821: inframe_insertion. Variant type: Duplication. Disease database links: MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612. Review status: criteria provided, multiple submitters, no conflicts.