A: The variant NC_000020.11:g.44987166C>A in gene STK4 is classified as 'Likely_pathogenic' for Severe_combined_immunodeficiency_disease. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660. Review status: criteria provided, single submitter.