A: The variant NC_000020.11:g.46123130A>T in gene CD40 is classified as 'Pathogenic' for Hyper-IgM_syndrome_type_3. Molecular consequence: SO:0001627: intron_variant,SO:0001819: synonymous_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011735,MedGen:C1720957,OMIM:606843,Orphanet:101090. Review status: no assertion criteria provided.