A: The variant NC_000019.10:g.47475545_47475592del in gene KPTN is classified as 'Uncertain_significance' for Inborn_genetic_diseases. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.