Thirteen additional heterozygous variants in GBA1 — p.R502C, p.A495P, p.L483R, p.D448H, p.E427X, p.G416S, p.N409S, p.R398X, p.R296Q, p.G241R, p.N227S, p.S212X, and p.R159W — were identified in our study, and have been reported as disease-causing for Gaucher disease in homozygous state. The gene discussed is GBA1; the disease is Gaucher disease.