| Acute leukemia of ambiguous lineage | 1 | Aug 9, 2018 |
| Acute lymphoid leukemia | 5 | Oct 7, 2022 |
| Acute monoblastic leukemia | 1 | Dec 4, 2018 |
| Acute monocytic leukemia | 1 | Dec 4, 2018 |
| Acute myeloid leukemia | 8 | Oct 7, 2022 |
| Acute promyelocytic leukemia | 1 | Dec 4, 2018 |
| Anaplastic ependymoma | 2 | Dec 4, 2018 |
| Astrocytoma, anaplastic | 1 | Aug 9, 2018 |
| Ataxia-pancytopenia syndrome | 8 | Oct 7, 2022 |
| Ataxia-telangiectasia syndrome | 24 | Oct 7, 2022 |
| Atypical teratoid rhabdoid tumor | 1 | Dec 4, 2018 |
| B Acute Lymphoblastic Leukemia | 4 | Aug 9, 2018 |
| B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 | 1 | Dec 4, 2018 |
| B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged | 1 | Dec 4, 2018 |
| B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified | 4 | Dec 4, 2018 |
| B lymphoblastic leukemia lymphoma with hyperdiploidy | 1 | Dec 4, 2018 |
| B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) | 4 | Dec 4, 2018 |
| B lymphoblastic leukemia lymphoma, no ICD-O subtype | 2 | Aug 9, 2018 |
| B-lymphoblastic leukemia/lymphoma with hypodiploidy | 1 | Dec 4, 2018 |
| BAP1-related tumor predisposition syndrome | 5 | Oct 7, 2022 |
| Beckwith-Wiedemann syndrome | 2 | Oct 7, 2022 |
| Bloom syndrome | 15 | Oct 7, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 4 | Oct 19, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 12 | Oct 7, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 4 | Oct 7, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 | Jun 15, 2021 |
| Burkitt lymphoma | 1 | Aug 9, 2018 |
| CBL-related disorder | 4 | Oct 7, 2022 |
| Cardio-facio-cutaneous syndrome | 1 | Jun 15, 2021 |
| Cardiofaciocutaneous syndrome 3 | 1 | Jun 10, 2022 |
| Carney complex, type 1 | 1 | Nov 3, 2021 |
| Cockayne syndrome | 2 | Oct 7, 2020 |
| Cockayne syndrome type 2 | 1 | Aug 7, 2021 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 5 | Oct 7, 2022 |
| Colorectal cancer, susceptibility to, 10 | 10 | Oct 7, 2022 |
| Colorectal cancer, susceptibility to, 12 | 32 | Oct 19, 2022 |
| Craniopharyngioma | 8 | Dec 4, 2018 |
| DDX41-related hematologic malignancy predisposition syndrome | 3 | Oct 7, 2022 |
| DICER1 syndrome | 14 | Dec 10, 2021 |
| Desmoid tumors | 1 | Aug 9, 2018 |
| Diffuse intrinsic pontine glioma | 3 | Dec 4, 2018 |
| Dyskeratosis congenita | 2 | Nov 3, 2021 |
| Dyskeratosis congenita, autosomal dominant 2 | 3 | Oct 7, 2022 |
| Embryonal rhabdomyosarcoma | 1 | Dec 4, 2018 |
| Ependymoma | 1 | Dec 4, 2018 |
| Ewing sarcoma | 2 | Dec 4, 2018 |
| Ewing sarcoma of soft tissue | 1 | Dec 4, 2018 |
| Exostoses, multiple, type 1 | 2 | Oct 7, 2022 |
| Exostoses, multiple, type 2 | 7 | Oct 7, 2022 |
| Familial adenomatous polyposis 1 | 41 | Oct 7, 2022 |
| Familial adenomatous polyposis 2 | 9 | Oct 19, 2022 |
| Familial adenomatous polyposis 3 | 6 | Oct 7, 2022 |
| Familial adenomatous polyposis 4 | 8 | Oct 7, 2022 |
| Familial cancer of breast | 19 | Oct 19, 2022 |
| Familial isolated pituitary adenoma | 19 | Nov 3, 2021 |
| Familial melanoma | 2 | Dec 10, 2021 |
| Familial multiple polyposis syndrome | 1 | Jun 21, 2021 |
| Fanconi anemia | 23 | Jun 10, 2022 |
| Fanconi anemia complementation group A | 19 | Oct 7, 2022 |
| Fanconi anemia complementation group C | 4 | Oct 7, 2022 |
| Fanconi anemia complementation group G | 4 | Oct 7, 2022 |
| Fanconi anemia complementation group J | 5 | Oct 7, 2022 |
| Fanconi anemia complementation group P | 2 | Aug 7, 2021 |
| Fanconi anemia complementation group Q | 8 | Oct 7, 2022 |
| Ganglioglioma | 1 | Dec 4, 2018 |
| Gastrointestinal stroma tumor | 3 | Oct 7, 2022 |
| Generalized juvenile polyposis/juvenile polyposis coli | 3 | Dec 10, 2021 |
| Germinoma | 1 | Dec 4, 2018 |
| Glioblastoma | 2 | Aug 9, 2018 |
| Glioblastoma multiforme | 1 | Dec 4, 2018 |
| Gorlin syndrome | 19 | Oct 7, 2022 |
| Hepatoblastoma | 1 | Dec 4, 2018 |
| Hereditary breast ovarian cancer syndrome | 43 | Jun 10, 2022 |
| Hereditary diffuse gastric adenocarcinoma | 16 | Jun 10, 2022 |
| Hereditary mixed polyposis syndrome | 2 | Oct 7, 2022 |
| Hereditary papillary renal cell carcinoma | 1 | Jun 21, 2021 |
| Hereditary pheochromocytoma-paraganglioma | 8 | Jun 10, 2022 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2 | Aug 7, 2021 |
| High grade surface osteosarcoma | 1 | Dec 4, 2018 |
| Hyperparathyroidism 2 with jaw tumors | 2 | Nov 3, 2021 |
| Legius syndrome | 1 | Oct 7, 2022 |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 6 | Jun 10, 2022 |
| Li-Fraumeni syndrome | 3 | Oct 7, 2020 |
| Li-Fraumeni syndrome 1 | 7 | Oct 7, 2022 |
| Lymphoma | 2 | Aug 9, 2018 |
| Lynch syndrome | 31 | Dec 15, 2020 |
| Lynch syndrome 1 | 9 | Oct 7, 2022 |
| Lynch syndrome 4 | 8 | Oct 7, 2022 |
| Lynch syndrome 5 | 13 | Oct 7, 2022 |
| Lynch syndrome 8 | 4 | Jun 10, 2022 |
| MIRAGE syndrome | 8 | Oct 7, 2022 |
| Malignant fibrous histiocytoma | 1 | Dec 4, 2018 |
| Malignant germ cell tumor of ovary | 2 | Aug 9, 2018 |
| Malignant glioma | 1 | Dec 4, 2018 |
| Medulloblastoma | 23 | Oct 19, 2022 |
| Melanoma, cutaneous malignant, susceptibility to, 10 | 6 | Oct 7, 2022 |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 1 | Jun 10, 2022 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 5 | Oct 7, 2022 |
| Melanoma-pancreatic cancer syndrome | 5 | Oct 7, 2022 |
| Microcephaly, normal intelligence and immunodeficiency | 10 | Oct 7, 2022 |
| Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged | 1 | Dec 4, 2018 |
| Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified | 1 | Dec 4, 2018 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 1 | Dec 10, 2021 |
| Mosaic variegated aneuploidy syndrome | 6 | Nov 3, 2021 |
| Mosaic variegated aneuploidy syndrome 1 | 2 | Oct 7, 2022 |
| Multiple congenital exostosis | 6 | Jun 10, 2022 |
| Multiple cutaneous leiomyomas | 6 | Oct 7, 2022 |
| Multiple endocrine neoplasia | 1 | Oct 7, 2020 |
| Multiple endocrine neoplasia type 4 | 3 | Oct 7, 2022 |
| Multiple endocrine neoplasia, type 1 | 2 | Oct 7, 2022 |
| Multiple endocrine neoplasia, type 2 | 6 | Dec 10, 2021 |
| Multiple endocrine neoplasia, type 2a | 8 | Nov 10, 2022 |
| Multiple fibrofolliculomas | 6 | Oct 7, 2022 |
| Myelodysplastic syndrome | 1 | Oct 19, 2022 |
| Nephroblastoma | 2 | Dec 4, 2018 |
| Neuroblastoma | 5 | Dec 4, 2018 |
| Neuroblastoma, susceptibility to, 2 | 3 | Oct 19, 2022 |
| Neuroblastoma, susceptibility to, 3 | 6 | Oct 7, 2022 |
| Neurofibromatosis, type 1 | 12 | Oct 7, 2022 |
| Neurofibromatosis, type 2 | 3 | Oct 7, 2022 |
| Nijmegen breakage syndrome-like disorder | 1 | Oct 7, 2020 |
| Noonan syndrome | 27 | Jun 10, 2022 |
| Noonan syndrome 10 | 4 | Oct 7, 2022 |
| Noonan syndrome 4 | 2 | Oct 7, 2022 |
| Noonan syndrome 7 | 3 | Oct 7, 2022 |
| Noonan syndrome 8 | 1 | Oct 7, 2022 |
| Noonan syndrome 9 | 4 | Oct 7, 2022 |
| Oligodontia-cancer predisposition syndrome | 6 | Oct 7, 2022 |
| Optic nerve glioma | 2 | Aug 9, 2018 |
| Osteoblastic osteosarcoma | 1 | Dec 4, 2018 |
| Osteopathia striata with cranial sclerosis | 2 | Oct 7, 2022 |
| PTEN hamartoma tumor syndrome | 1 | Jun 21, 2021 |
| Papillary renal cell carcinoma type 1 | 12 | Oct 7, 2022 |
| Papillary thyroid carcinoma | 2 | Dec 4, 2018 |
| Paragangliomas 2 | 1 | Oct 7, 2022 |
| Paragangliomas 3 | 1 | Jun 10, 2022 |
| Paragangliomas 4 | 1 | Oct 7, 2022 |
| Paragangliomas 5 | 5 | Oct 19, 2022 |
| Perlman syndrome | 1 | Oct 7, 2020 |
| Peutz-Jeghers syndrome | 6 | Oct 7, 2022 |
| Pheochromocytoma | 11 | Oct 7, 2022 |
| Pilocytic astrocytoma | 5 | Dec 4, 2018 |
| Pituitary carcinoma | 1 | Aug 9, 2018 |
| Pleomorphic xanthoastrocytoma | 1 | Aug 9, 2018 |
| Pleuropulmonary blastoma | 6 | Oct 7, 2022 |
| Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 6 | Oct 7, 2022 |
| Predisposition to Wilms tumor | 3 | Oct 7, 2022 |
| Predisposition to cancer | 13 | Oct 19, 2022 |
| Predisposition to medulloblastoma | 1 | Oct 7, 2022 |
| Predisposition to neuroblastoma | 1 | Jun 21, 2021 |
| Primitive neuroectodermal tumor | 1 | Dec 4, 2018 |
| Retinoblastoma | 22 | Jun 10, 2022 |
| Rhabdoid tumor predisposition syndrome 2 | 10 | Oct 7, 2022 |
| Rothmund-Thomson syndrome | 1 | Oct 7, 2020 |
| Rothmund-Thomson syndrome type 2 | 18 | Oct 7, 2022 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Oct 7, 2020 |
| Schwannomatosis 2 | 1 | Oct 7, 2022 |
| Somatotroph adenoma | 2 | Jun 10, 2022 |
| Thrombocytopenia 2 | 9 | Oct 7, 2022 |
| Thrombocytopenia 5 | 3 | Jun 10, 2022 |
| Tuberous sclerosis 1 | 4 | Oct 7, 2022 |
| Tuberous sclerosis 2 | 6 | Oct 7, 2022 |
| Tuberous sclerosis syndrome | 13 | Nov 3, 2021 |
| Uveal melanoma | 1 | Dec 4, 2018 |
| Von Hippel-Lindau syndrome | 3 | Oct 7, 2022 |
| Wilms tumor 1 | 9 | Oct 7, 2022 |
| Wilms tumor 6 | 4 | Jun 10, 2022 |
| Wiskott-Aldrich syndrome | 1 | Oct 7, 2020 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 | Oct 7, 2022 |
| Xeroderma pigmentosum, group F | 8 | Oct 7, 2022 |
| not specified | 1 | Oct 7, 2020 |
