Table 1 summarizes the pathogenicity of 24 variants of the studied six gene families; two genes are linked to surfactant metabolism dysfunction (ABCA3 and CSF2RB), two to pulmonary fibrosis (MUC5B and SFTP), one to bronchiectasis (SCNN1B), and one to alpha-1-antitrypsin deficiency (SERPINA1). This evidence concerns the gene ABCA3 and hyperinsulinemic hypoglycemia, familial, 4.