In addition, three VUSs in PAH genes (TGFB1 (c.426A > C, p.E142D), KCNA5 (c.1645G > T, p.D549Y) and TRPC6 (c.1327 T > A, p.F443I)) were also found individually in three patients. Here, TGFB1 is linked to pulmonary arterial hypertension.