Homozygous LoF mutations in FAN1 [MIM: 613534], one of the five genes mapping to this CNVR, have been linked to karyomegalic interstitial nephritis [MIM: 614817] [60], opening the possibility that both increased and decreased dosage of this region have negative consequences on renal health. The gene discussed is FAN1; the disease is karyomegalic interstitial nephritis.