CX3CR1 and hyperinsulinemic hypoglycemia, familial, 4: The enrichment overlaps included a known pathogenic missense variant (Landrum et al., 2016) in myeloperoxidase deficiency (MPO) (Romano et al., 1997), and we identified additional known pathogenic variants in uncurated genes including CX3CR1 (HIV progression) (Faure et al., 2000) and hemochromatosis type 1 (HFE) (Adams et al., 2005) (Table S4).