The primary focus was on gene mutations linked to well-established hereditary thrombophilia, including F2 (prothrombin G20210A mutation), F5 (FVL mutation), PROC mutation, PROS1 mutation, SERPINC1 mutation, JAK2 V617F, and MTHFR (C677T) polymorphism, along with gene mutations associated with the primary diseases or comorbidities. The gene discussed is MTHFR; the disease is Rare hereditary thrombophilia.