Locus variants in our study included ‘G410DfsX1’ in BMPR2, ‘ex7 L300P,’ ‘ex4 S110PfsX40,’ and ‘ex7 E295Afs96X’ in ALK1, ‘c.-2C>A (IVS1–2 C>A)’ in CAV1, and ‘ex8 D366Q’ in ENG, which were not found in the ClinVar database associated with PAH. The gene discussed is ACVRL1; the disease is pulmonary arterial hypertension.