As of December 6, 2023, ClinVar contained entries for 19 of the 36 CXCR4 variants that have been identified in individuals with WHIM syndrome in scientific literature, with 15 of them classified as likely pathogenic or pathogenic, 4 as variant of uncertain significance (Supplementary Table 1) (31). The gene discussed is CXCR4; the disease is WHIM syndrome.