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. 2023 Jan 12;6(3):e202201673. doi: 10.26508/lsa.202201673

Figure 2. Non-ACMG secondary finding.

Figure 2.

Disease categories and related gene-disease pairs. The ACMG, the American College of Medical Genetics and Genomics; ARMD, age-related macular degeneration type 2; SD, Stargardt disease type 1; PCD, primary ciliary dyskinesia type 3; FRS, Fanconi renotubular syndrome type 2; VMD, vitelliform macular dystrophy type 4; CCHS, congenital central hypoventilation syndrome type 2; SSE, sitosterolemia type 1; PHOU, primary hyperoxaluria type 1; NS, nephrotic syndrome; type 9; RGU, renal glucosuria; FTAA, familial thoracic aortic aneurysm type 9; TDMG, thyroid dyshormonogenesis type 5; vWD, von Willebrand disease type 1; AHUS, atypical hemolytic uremic syndrome type 6; EBD, epidermolysis bullosa dystrophica.