A: The variant NC_000019.10:g.17839567G>A in gene JAK3 is classified as 'Pathogenic' for not_provided|Severe_combined_immunodeficiency_disease|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078. Review status: reviewed by expert panel.