| 1 | Breast cancer | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51, RAD51C, RAD51D, XRCC2, XRCC3 | 16.00 |
| 2 | Ovarian cancer | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51C, RAD51D, WRN | 16.00 |
| 3 | Pancreatic cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, NBN, PALB2, RBBP8 | 16.00 |
| 4 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51, RAD51B, RAD51C, RAD51D, XRCC2 | 16.00 |
| 5 | Fanconi anemia, complementation group a | Enrichment | BRCA1, BRCA2, BRIP1, PALB2, RAD51, RAD51C, SLX4, XRCC2 | 16.00 |
| 6 | Gastric cancer | Enrichment | ATM, BARD1, BRCA1, BRCA2, BRIP1, NBN, PALB2, RAD51C, RAD51D | 16.00 |
| 7 | Hereditary breast carcinoma | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, NBN, PALB2, RAD50, RAD51, RAD51D | 16.00 |
| 8 | Colorectal cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, BRIP1, PALB2, RAD51D, RMI1 | 16.00 |
| 9 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, BRCA2, BRIP1, NBN, PALB2, RAD51C, RAD51D | 11.52 |
| 10 | Uterine corpus cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, PALB2, RAD51C | 11.39 |
| 11 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, MRE11, NBN, PALB2, RAD50, RAD51B, RAD51C, RAD51D, XRCC2 | 11.36 |
| 12 | Prostate cancer | Enrichment | ATM, BRCA1, BRCA2, NBN, PALB2, RAD51D | 11.14 |
| 13 | Endometrial cancer | Enrichment | ATM, BARD1, BLM, BRCA1, BRCA2, RAD51C | 10.96 |
| 14 | Colonic benign neoplasm | Enrichment | ATM, MRE11, PALB2 | 6.39 |
| 15 | Lynch syndrome 1 | Enrichment | ATM, PALB2, RAD51D | 6.24 |
| 16 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2, BRIP1 | 5.52 |
| 17 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | Enrichment | RMI2, TOP3A | 5.52 |
| 18 | Inflammatory breast carcinoma | Enrichment | BRCA1, BRCA2 | 5.52 |
| 19 | Bilateral breast cancer | Enrichment | BRCA1, BRCA2 | 5.52 |
| 20 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2, PALB2 | 5.52 |
| 21 | Hereditary site-specific ovarian cancer syndrome | Enrichment | RAD51C, RAD51D | 5.05 |
| 22 | Bladder cancer | Enrichment | ATM, BRCA1, BRCA2 | 4.76 |
| 23 | Chordoma | Enrichment | BRCA2, PALB2 | 4.75 |
| 24 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, BRCA2 | 4.75 |
| 25 | Cholangiocarcinoma | Enrichment | BRCA1, BRCA2 | 4.75 |
| 26 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 4.75 |
| 27 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1, BRCA2 | 4.52 |
| 28 | Glioblastoma | Enrichment | ATM, SLX4 | 4.17 |
| 29 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2, DNA2 | 4.08 |
| 30 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2, BRIP1 | 3.97 |
| 31 | Myeloma, multiple | Enrichment | ATM, BARD1, BRCA2 | 3.90 |
| 32 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2, BRIP1 | 3.87 |
| 33 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2 | 3.79 |
| 34 | Medulloblastoma | Enrichment | BRCA2, WRN | 3.57 |
| 35 | Seckel syndrome | Enrichment | DNA2, RBBP8 | 3.57 |
| 36 | Rhabdomyosarcoma | Enrichment | BRCA1, BRCA2 | 3.45 |
| 37 | Diffuse large b-cell lymphoma | Enrichment | BRCA2, NBN | 3.30 |
| 38 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2, BRIP1 | 3.30 |
| 39 | Hepatoblastoma | Enrichment | BARD1, BRCA2 | 3.21 |
| 40 | Hepatocellular carcinoma | Enrichment | NBN, RAD50 | 3.17 |
| 41 | Lung cancer | Enrichment | BRCA1, PALB2 | 2.84 |
| 42 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.75 |
| 43 | Bloom syndrome | Enrichment | BLM | 2.75 |
| 44 | Seckel syndrome 2 | Enrichment | RBBP8 | 2.75 |
| 45 | Fanconi anemia, complementation group j | Enrichment | BRIP1 | 2.75 |
| 46 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.75 |
| 47 | Mirror movements 2 | Enrichment | RAD51 | 2.75 |
| 48 | Seckel syndrome 8 | Enrichment | DNA2 | 2.75 |
| 49 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.75 |
| 50 | Fanconi anemia, complementation group u | Enrichment | XRCC2 | 2.75 |
| 51 | Premature ovarian failure 17 | Enrichment | XRCC2 | 2.75 |
| 52 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 | Enrichment | DNA2 | 2.75 |
| 53 | Spermatogenic failure 50 | Enrichment | XRCC2 | 2.75 |
| 54 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.75 |
| 55 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.75 |
| 56 | Jawad syndrome | Enrichment | RBBP8 | 2.75 |
| 57 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.75 |
| 58 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.75 |
| 59 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 | Enrichment | TOP3A | 2.75 |
| 60 | Rothmund-thomson syndrome, type 4 | Enrichment | DNA2 | 2.75 |
| 61 | Basal cell carcinoma | Enrichment | PALB2 | 2.75 |
| 62 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.75 |
| 63 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.75 |
| 64 | Fanconi anemia, complementation group p | Enrichment | SLX4 | 2.58 |
| 65 | Ovarian dysgenesis 9 | Enrichment | SPIDR | 2.58 |
| 66 | Rothmund-thomson syndrome, type 2 | Enrichment | DNA2 | 2.45 |
| 67 | Fanconi anemia, complementation group n | Enrichment | PALB2 | 2.45 |
| 68 | Pancreatic cancer 3 | Enrichment | PALB2 | 2.45 |
| 69 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | Enrichment | KAT5 | 2.45 |
| 70 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.45 |
| 71 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.45 |
| 72 | Werner syndrome | Enrichment | WRN | 2.45 |
| 73 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.45 |
| 74 | Ovarian cancer 1 | Enrichment | BRIP1 | 2.45 |
| 75 | Short stature, microcephaly, and endocrine dysfunction | Enrichment | XRCC2 | 2.45 |
| 76 | High grade glioma | Enrichment | ATM | 2.45 |
| 77 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 2.45 |
| 78 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.45 |
| 79 | Peritoneum cancer | Enrichment | BRCA1 | 2.45 |
| 80 | Melanoma, cutaneous malignant 6 | Enrichment | XRCC3 | 2.40 |
| 81 | Dyskeratosis congenita, autosomal recessive 5 | Enrichment | RTEL1 | 2.40 |
| 82 | Autosomal dominant dyskeratosis congenita 4 | Enrichment | RTEL1 | 2.40 |
| 83 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 | Enrichment | RTEL1 | 2.40 |
| 84 | Primary ovarian insufficiency | Enrichment | NBN, RAD51C | 2.32 |
| 85 | Ataxia-telangiectasia | Enrichment | ATM | 2.28 |
| 86 | Nijmegen breakage syndrome | Enrichment | NBN | 2.28 |
| 87 | Polycythemia vera | Enrichment | ATM | 2.28 |
| 88 | Breast-ovarian cancer, familial 3 | Enrichment | RAD51C | 2.28 |
| 89 | Breast-ovarian cancer, familial 4 | Enrichment | RAD51D | 2.28 |
| 90 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 2.28 |
| 91 | Fanconi anemia, complementation group o | Enrichment | RAD51C | 2.28 |
| 92 | Breast-ovarian cancer, familial 5 | Enrichment | PALB2 | 2.28 |
| 93 | Koolen-de vries syndrome | Enrichment | ATM | 2.28 |
| 94 | Adenocarcinoma | Enrichment | ATM | 2.28 |
| 95 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 2.28 |
| 96 | Dyskeratosis congenita, x-linked | Enrichment | RTEL1 | 2.22 |
| 97 | Mirror movements 1 | Enrichment | RAD51 | 2.15 |
| 98 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 2.15 |
| 99 | Mantle cell lymphoma | Enrichment | ATM | 2.15 |
| 100 | Oculomotor apraxia | Enrichment | ATM | 2.15 |
| 101 | Epilepsy, progressive myoclonic, 4, with or without renal failure | Enrichment | RTEL1 | 2.10 |
| 102 | Combined oxidative phosphorylation deficiency 24 | Enrichment | RTEL1 | 2.10 |
| 103 | Cutis laxa, autosomal recessive, type ib | Enrichment | MUS81 | 2.10 |
| 104 | Fanconi anemia, complementation group d2 | Enrichment | BRIP1 | 2.05 |
| 105 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.98 |
| 106 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.98 |
| 107 | Combined oxidative phosphorylation deficiency 32 | Enrichment | EME2 | 1.98 |
| 108 | Pulmonary fibrosis | Enrichment | RTEL1 | 1.92 |
| 109 | Hoyeraal-hreidarsson syndrome | Enrichment | RTEL1 | 1.92 |
| 110 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.91 |
| 111 | Isolated split hand-split foot malformation | Enrichment | SEM1 | 1.83 |
| 112 | Polydactyly | Enrichment | BRCA2 | 1.80 |
| 113 | Leukemia, acute lymphoblastic 3 | Enrichment | PALB2 | 1.80 |
| 114 | Leukemia, chronic lymphocytic | Enrichment | ATM | 1.76 |
| 115 | Aplastic anemia | Enrichment | NBN | 1.76 |
| 116 | Immune deficiency disease | Enrichment | ATM | 1.71 |
| 117 | Leukemia, acute lymphoblastic | Enrichment | NBN | 1.71 |
| 118 | Premature menopause | Enrichment | NBN | 1.64 |
| 119 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.61 |
| 120 | Cataract | Enrichment | WRN | 1.61 |
| 121 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.58 |
| 122 | Wilms tumor 1 | Enrichment | BRCA2 | 1.58 |
| 123 | Gliosarcoma | Enrichment | ATM | 1.55 |
| 124 | Giant cell glioblastoma | Enrichment | ATM | 1.53 |
| 125 | 46 xx gonadal dysgenesis | Enrichment | SPIDR | 1.50 |
| 126 | Interstitial lung disease 2 | Enrichment | RTEL1 | 1.48 |
| 127 | Lissencephaly | Enrichment | NBN | 1.44 |
| 128 | Dyskeratosis congenita | Enrichment | RTEL1 | 1.43 |
| 129 | Cerebral palsy | Enrichment | BRCA2 | 1.18 |
| 130 | Type 2 diabetes mellitus | Enrichment | WRN | 1.14 |
| 131 | Leukemia, acute myeloid | Enrichment | RTEL1 | 1.12 |
| 132 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | XRCC2 | 1.02 |
| 133 | Mitochondrial disease | Enrichment | TOP3A | 0.84 |
| 134 | Leigh syndrome, nuclear | Enrichment | EME2 | 0.77 |
| 135 | Leigh disease | Enrichment | EME2 | 0.74 |
| 136 | Microcephaly | Enrichment | NBN | 0.71 |