Given the gene’s unlikely role in primary lung disease and that the identified KLHL6 c.1713C>T, p.(I571I) variant was synonymous, we focused further analyses on the nonsynonymous variants in LAMP3 and ABCC5. ABCC5 is ubiquitously expressed in tissues and acts as a general transporter of glutamate conjugates [22] and Abcc5-/- mice have a normal cellular phenotype [23]. The gene discussed is KLHL6; the disease is lung disorder.