A: The variant NC_000020.11:g.44987213C>T in gene STK4 is classified as 'Pathogenic' for Combined_immunodeficiency_due_to_STK4_deficiency. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013934,MedGen:C3553943,OMIM:614868,Orphanet:314689. Review status: criteria provided, multiple submitters, no conflicts.