In this study, we present two novel NHP2 variants (NHP2-A39T and NHP2-T44M) identified in an adult patient diagnosed with DC clinical features, bone marrow failure/myelodysplastic syndrome (MDS) and gastric cancer, and we validate both of them as pathological for hTR expression and telomerase activity in two cancer cell lines. The gene discussed is NHP2; the disease is cancer.