The distribution of mutations for the four most frequently occurring clinically relevant genes is as follows: GP1BA mutations lead to Bernard–Soulier syndrome (13.8%), macrothrombocytopenia (2.3%), and mild macrothrombocytopenia (18.4%); ITGA2B and ITGB3 mutations are associated with Glanzmann thrombasthenia (96.7% and 97.5%, respectively) and platelet-type bleeding disorder (approximately 3% each); VWF mutations cause von Willebrand disease (100%). The gene discussed is GP1BA; the disease is Macrothrombocytopenia.