A: The variant NC_000019.10:g.47479917G>C in gene KPTN is classified as 'Benign/Likely_benign' for not_provided|Macrocephaly-developmental_delay_syndrome|KPTN-related_disorder|not_specified. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014289,MedGen:C3810225,OMIM:615637,Orphanet:397612|.|MedGen:CN169374. Review status: criteria provided, multiple submitters, no conflicts.