VUS were also detected in NF1 in a patient without clinical symptoms of NF1, BRCA2 in a patient with nephroblastoma, SMARCA4 in a patient with Ewing sarcoma, and SEC23B, a candidate gene for Cowden, in a patient with multiple tumours and an additional pathogenic heterozygous RECQL4 variant. The gene discussed is NF1; the disease is Ewing sarcoma.