A: The variant NC_000020.11:g.46128326_46128327dup in gene CD40 is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Hyperimmunoglobulin_M_syndrome. Molecular consequence: SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230. Review status: criteria provided, conflicting classifications.