A: The variant NC_000020.11:g.31643504dup in gene COX4I2 is classified as 'Uncertain_significance' for Pancreatic_insufficiency-anemia-hyperostosis_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0012992,MedGen:C2675184,OMIM:612714,Orphanet:199337. Review status: criteria provided, single submitter.