A: The variant NC_000020.11:g.31644800G>A in gene COX4I2 is classified as 'Uncertain_significance' for Pancreatic_insufficiency-anemia-hyperostosis_syndrome|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012992,MedGen:C2675184,OMIM:612714,Orphanet:199337|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.