A: The variant NC_000020.11:g.31639923GT[1] in gene COX4I2 is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Pancreatic_insufficiency-anemia-hyperostosis_syndrome. Molecular consequence: SO:0001627: intron_variant. Variant type: Microsatellite. Disease database links: MedGen:C3661900|MONDO:MONDO:0012992,MedGen:C2675184,OMIM:612714,Orphanet:199337. Review status: criteria provided, conflicting classifications.