A: The variant NC_000020.11:g.31643489C>G in gene COX4I2 is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Pancreatic_insufficiency-anemia-hyperostosis_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0012992,MedGen:C2675184,OMIM:612714,Orphanet:199337. Review status: criteria provided, conflicting classifications.