A: The variant NC_000019.10:g.38309516dup in gene YIF1B is classified as 'Pathogenic' for Kaya-Barakat-Masson_syndrome|Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0030878,MedGen:C5436856,OMIM:619125|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.