| | | Single nucleotide variant (missense variant) | Medulloblastoma | |
| | | Deletion (splice acceptor variant +1 more) | Fanconi anemia complementation group A | |
| | RAD51D, RAD51L3-RFFL (S71L) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 4 | |
| | | Deletion (splice acceptor variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Medulloblastoma | |
| | | Duplication (frameshift variant) | Cardiofaciocutaneous syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Gorlin syndrome | |
| | | Single nucleotide variant (missense variant) | Retinoblastoma | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked | |
| | FANCD2, LOC107303338 (R408L) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group D2 | |
| | | Microsatellite (frameshift variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group Q | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | INSL6, JAK2 (S514C +2 more) | Single nucleotide variant (missense variant +1 more) | Thrombocythemia 3 | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Retinoblastoma | |
| | | Single nucleotide variant (missense variant) | DHX34-associated thromobocytopenia | |
| | | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant) | Retinoblastoma | |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome +1 more | |
| | | Deletion (intron variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Ataxia-telangiectasia syndrome | |
| | | Duplication (intron variant) | Wilms tumor 1 | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (missense variant) | Medulloblastoma | |
| | LOC105376032, PAX5 (V164L +2 more) | Single nucleotide variant (missense variant +2 more) | Leukemia, acute lymphoblastic, susceptibility to, 3 | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Gorlin syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple endocrine neoplasia type 2A +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Predisposition to cancer | |
| | | Single nucleotide variant (missense variant) | Ataxia-pancytopenia syndrome +1 more | |
| | | Deletion (frameshift variant +3 more) | Wilms tumor 1 | |
| | | Microsatellite (frameshift variant) | Gorlin syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 | |
| | | Single nucleotide variant (missense variant) | Wilms tumor 1 | |
| | | Single nucleotide variant (intron variant) | Cardiofaciocutaneous syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma | |
| | | Single nucleotide variant (missense variant) | Gorlin syndrome | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group G | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma | |
| | | Single nucleotide variant (missense variant +1 more) | Neuroblastoma, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Shwachman-Diamond syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Familial cancer of breast | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ataxia-pancytopenia syndrome +1 more | |
| | | Indel (5 prime UTR variant +2 more) | Tumor predisposition syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Familial cancer of breast | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Medulloblastoma | |
| | | Single nucleotide variant (nonsense) | Exostoses, multiple, type 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Pleuropulmonary blastoma | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma | |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (missense variant) | Bone marrow failure syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome-like disorder with loose anagen hair 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group F | |
| | | Single nucleotide variant (missense variant +1 more) | Acute lymphoid leukemia | |
| | | Single nucleotide variant (missense variant +1 more) | Birt-Hogg-Dube syndrome | |
| | | Single nucleotide variant (missense variant) | Mosaic variegated aneuploidy syndrome 1 | |
| | LOC126807054, PDGFRA (L802P) | Single nucleotide variant (missense variant +1 more) | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | |
| | | Single nucleotide variant (missense variant) | Medulloblastoma | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 | |
| | | Single nucleotide variant (missense variant +2 more) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 2 | |
| | | Deletion (frameshift variant) | Neurofibromatosis, type 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DDX41-related hematologic malignancy predisposition syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Wilms tumor 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuroblastoma, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Legius syndrome | |
| | | Single nucleotide variant (missense variant) | Wilms tumor 6 | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Wilms tumor 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, X-linked +1 more | |
| | | Deletion (frameshift variant) | Oligodontia-cancer predisposition syndrome | |
| | | Duplication (frameshift variant) | Multiple endocrine neoplasia type 4 | |
| | LOC130065239, TRIM28 (G54V) | Single nucleotide variant (missense variant) | Wilms tumor 1 | |
| | | Deletion (frameshift variant) | Retinoblastoma | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pleuropulmonary blastoma | |
| | | Single nucleotide variant | Dyskeratosis congenita, autosomal dominant 1 | |
| | | Deletion (frameshift variant) | Retinoblastoma | |
| | | Single nucleotide variant (missense variant) | Monosomy 7 myelodysplasia and leukemia syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Medulloblastoma | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group A | |
| | | Single nucleotide variant (missense variant) | Monosomy 7 myelodysplasia and leukemia syndrome 2 +1 more | |
| | | Deletion (inframe_indel +1 more) | Rothmund-Thomson syndrome type 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Wilms tumor 1 | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 +1 more | |
| | LOC130065239, TRIM28 (G28V) | Single nucleotide variant (missense variant) | Wilms tumor 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Pancytopenia due to IKZF1 mutations | |
| | | Single nucleotide variant (missense variant +1 more) | Leukemia, acute lymphoblastic, susceptibility to, 3 | |