A: The variant NC_000020.11:g.46121863TAA[1] in gene CD40 is classified as 'Pathogenic' for Hyper-IgM_syndrome_type_3. Molecular consequence: SO:0001619: non-coding_transcript_variant,SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0011735,MedGen:C1720957,OMIM:606843,Orphanet:101090. Review status: no assertion criteria provided.