A: The variant NC_000021.9:g.44286139_44286141delinsCT in gene AIRE is classified as 'Pathogenic' for not_provided|Polyglandular_autoimmune_syndrome,_type_1. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Indel. Disease database links: MedGen:C3661900|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453. Review status: criteria provided, multiple submitters, no conflicts.