| AV junctional rhythm | 1 | Aug 28, 2014 |
| Acute intermittent porphyria | 6 | Aug 28, 2014 |
| Adenocarcinoma | 1 | Aug 28, 2014 |
| Aganglionic megacolon | 9 | Nov 22, 2015 |
| Alpha-1-antitrypsin deficiency | 7 | Aug 28, 2014 |
| Altered myosin contractile function | 1 | Aug 28, 2014 |
| Andersen Tawil syndrome | 1 | Aug 28, 2014 |
| Angiokeratoma corporis diffusum | 3 | Oct 25, 2017 |
| Aortic aneurysm | 2 | Nov 22, 2015 |
| Aortic aneurysm, familial thoracic 4 | 2 | Feb 29, 2016 |
| Aortic aneurysm, familial thoracic 6 | 3 | Mar 11, 2015 |
| Aortic aneurysm, familial thoracic 7 | 1 | Feb 29, 2016 |
| Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | 1 | Aug 28, 2014 |
| Arrhythmogenic right ventricular cardiomyopathy | 40 | Oct 25, 2017 |
| Arrhythmogenic right ventricular dysplasia 1 | 2 | Mar 11, 2015 |
| Astrocytoma | 1 | Jul 29, 2016 |
| Atrial fibrillation | 4 | Aug 28, 2014 |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 | Aug 28, 2014 |
| Axial myopathy, late-onset | 2 | Aug 28, 2014 |
| Becker muscular dystrophy | 2 | Aug 28, 2014 |
| Bloom syndrome | 2 | Feb 29, 2016 |
| Breast and colorectal cancer | 1 | Aug 28, 2014 |
| Breast and/or ovarian cancer | 12 | Nov 22, 2015 |
| Breast neoplasm | 45 | Dec 2, 2016 |
| Brugada syndrome | 16 | Oct 25, 2017 |
| Brugada syndrome (shorter-than-normal QT interval) | 2 | Aug 28, 2014 |
| Brugada syndrome, lidocaine-induced | 2 | Aug 28, 2014 |
| Carcinoma of colon | 1 | Feb 29, 2016 |
| Carcinoma of male breast | 1 | Aug 28, 2014 |
| Cardiac arrhythmia | 2 | Aug 28, 2014 |
| Cardiomyopathy | 1 | Nov 22, 2015 |
| Carney complex | 1 | Aug 28, 2014 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 | Aug 28, 2014 |
| Central core myopathy | 3 | Aug 28, 2014 |
| Charcot-Marie-Tooth disease | 1 | Aug 28, 2014 |
| Colon cancer | 2 | Dec 2, 2016 |
| Colorectal / endometrial cancer | 2 | Aug 28, 2014 |
| Colorectal adenoma | 13 | Nov 22, 2015 |
| Colorectal cancer | 30 | Sep 30, 2018 |
| Colorectal cancer, early onset | 1 | Aug 28, 2014 |
| Colorectal cancer, non-polyposis | 24 | Nov 22, 2015 |
| Conduction system disorder | 1 | Aug 28, 2014 |
| Congenital aneurysm of ascending aorta | 7 | Oct 25, 2017 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Aug 28, 2014 |
| Congenital heart disease | 1 | Aug 28, 2014 |
| Congenital muscular dystrophy | 1 | Aug 28, 2014 |
| Congenital myopathy | 8 | Aug 28, 2014 |
| Congenital myopathy with cores | 1 | Aug 28, 2014 |
| Cowden syndrome | 1 | Aug 28, 2014 |
| Cowden syndrome 1 | 1 | Aug 28, 2014 |
| Cystinuria | 2 | Aug 28, 2014 |
| Dopa-responsive dystonia | 1 | Aug 28, 2014 |
| Early repolarization associated with ventricular fibrillation | 1 | Aug 28, 2014 |
| Ehlers-Danlos syndrome, type 4 | 7 | Dec 2, 2016 |
| Elevated basal serum calcitonin | 1 | Aug 28, 2014 |
| Emery-Dreifuss muscular dystrophy | 1 | Aug 28, 2014 |
| Endometrial carcinoma | 2 | Aug 28, 2014 |
| Esophageal carcinoma | 1 | Nov 22, 2015 |
| Exertional myalgia, muscle stiffness and myoglobinuria | 1 | Aug 28, 2014 |
| Familial adenomatous polyposis 1 | 8 | Mar 11, 2015 |
| Familial adenomatous polyposis 2 | 2 | Oct 25, 2017 |
| Familial aortic aneurysms | 1 | Dec 2, 2016 |
| Familial isolated arrhythmogenic right ventricular dysplasia | 5 | Nov 22, 2015 |
| Familial multiple polyposis syndrome | 6 | Oct 25, 2017 |
| Familial partial lipodystrophy, Dunnigan type | 2 | Aug 28, 2014 |
| Familial spontaneous pneumothorax | 1 | Aug 28, 2014 |
| Fumarase deficiency | 2 | Aug 28, 2014 |
| Gastrointestinal polyposis | 2 | Aug 28, 2014 |
| Gastrointestinal stromal tumor, familial | 2 | Feb 29, 2016 |
| Gaucher disease | 1 | Feb 29, 2016 |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 | Nov 7, 2016 |
| Gorlin syndrome | 7 | Oct 25, 2017 |
| Haemorrhagic telangiectasia 1 | 6 | Nov 22, 2015 |
| Haemorrhagic telangiectasia 2 | 4 | Aug 28, 2014 |
| Hearing impairment | 1 | Feb 29, 2016 |
| Hereditary antithrombin deficiency | 6 | Nov 22, 2015 |
| Hereditary breast ovarian cancer syndrome | 17 | Oct 25, 2017 |
| Hereditary diffuse gastric adenocarcinoma | 3 | Oct 25, 2017 |
| Hereditary hemorrhagic telangiectasia | 1 | Sep 30, 2018 |
| Hereditary mixed polyposis syndrome | 1 | Dec 2, 2016 |
| Hereditary pheochromocytoma-paraganglioma | 1 | Oct 25, 2017 |
| Holoprosencephaly sequence | 1 | Aug 28, 2014 |
| Hyperammonemia | 1 | Nov 22, 2015 |
| Hypercholesterolemia | 40 | Dec 2, 2016 |
| Hypercholesterolemia, familial, 1 | 2 | Dec 2, 2016 |
| Hyperparathyroidism | 2 | Aug 28, 2014 |
| Hyperparathyroidism 2 with jaw tumors | 2 | Mar 11, 2015 |
| Hyperphenylalaninemia | 1 | Aug 28, 2014 |
| Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | 1 | Aug 28, 2014 |
| Hypertrophic cardiomyopathy | 5 | Oct 25, 2017 |
| Hypokalemic periodic paralysis | 1 | Aug 28, 2014 |
| Increased left ventricular wall thickness | 3 | Nov 22, 2015 |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 | Nov 22, 2015 |
| Jervell and Lange-Nielsen syndrome 1 | 1 | Aug 28, 2014 |
| Li-Fraumeni syndrome | 5 | Oct 25, 2017 |
| Loeys-Dietz syndrome 1 | 2 | Nov 22, 2015 |
| Long QT syndrome | 58 | Oct 25, 2017 |
| Long QT syndrome 2 | 4 | Nov 22, 2015 |
| Long QT syndrome, drug-associated | 2 | Aug 28, 2014 |
| Lymphedema | 1 | Aug 28, 2014 |
| Lynch syndrome | 16 | Sep 30, 2018 |
| Malignant hyperthermia and exertional rhabdomyolosis | 2 | Aug 28, 2014 |
| Malignant hyperthermia equivocal with halotane | 1 | Aug 28, 2014 |
| Malignant hyperthermia of anesthesia | 17 | Oct 25, 2017 |
| Malignant hyperthermia, susceptibility to, 1 | 23 | Aug 28, 2014 |
| Malignant tumor of breast | 2 | Oct 25, 2017 |
| Malignant tumor of prostate | 2 | Nov 22, 2015 |
| Mandibuloacral dysplasia | 1 | Aug 28, 2014 |
| Marfan syndrome | 21 | Oct 25, 2017 |
| Marfan syndrome, incomplete | 1 | Aug 28, 2014 |
| Medullary thyroid carcinoma | 5 | Nov 22, 2015 |
| Metabolic disease | 1 | Aug 28, 2014 |
| Multi-minicore disease and atypical periodic paralysis | 1 | Aug 28, 2014 |
| Multiminicore myopathy | 2 | Aug 28, 2014 |
| Multiminicore/minicore/multicore disease | 1 | Aug 28, 2014 |
| Multiple endocrine neoplasia, type 1 | 1 | Mar 11, 2015 |
| Multiple endocrine neoplasia, type 2 | 1 | Aug 28, 2014 |
| Multiple endocrine neoplasia, type 2a | 1 | Nov 22, 2015 |
| Multiple fibrofolliculomas | 3 | Feb 29, 2016 |
| Muscular dystrophy | 1 | Aug 28, 2014 |
| Muscular dystrophy and arthrogryposis | 1 | Aug 28, 2014 |
| Myopathy, RYR1-associated | 2 | Aug 28, 2014 |
| Myopathy, progressive axial with cataracts | 1 | Aug 28, 2014 |
| Myotonic dystrophy | 2 | Oct 25, 2017 |
| Neoplasm of stomach | 3 | Aug 28, 2014 |
| Oligodontia | 3 | Sep 30, 2018 |
| Ornithine carbamoyltransferase deficiency | 2 | Aug 28, 2014 |
| Orofacial cleft | 1 | Aug 28, 2014 |
| Ovarian cancer | 6 | Nov 22, 2015 |
| PRKAG2 cardiac syndrome | 1 | Aug 28, 2014 |
| Papillary renal cell carcinoma type 1 | 2 | Aug 28, 2014 |
| Paroxysmal familial ventricular fibrillation | 1 | Aug 28, 2014 |
| Partial albinism | 2 | Nov 22, 2015 |
| Peutz-Jeghers syndrome | 3 | Oct 25, 2017 |
| Phenylketonuria | 2 | Aug 28, 2014 |
| Pheochromocytoma | 7 | Mar 11, 2015 |
| Polycythemia | 1 | Aug 28, 2014 |
| Polymorphic ventricular tachycardia | 3 | Aug 28, 2014 |
| Polyp of colon | 6 | Sep 30, 2018 |
| Primary dilated cardiomyopathy | 27 | Oct 25, 2017 |
| Primary familial hypertrophic cardiomyopathy | 74 | Nov 22, 2015 |
| Rhabdomyosarcoma | 1 | Aug 28, 2014 |
| SUDDEN INFANT DEATH SYNDROME | 3 | Nov 22, 2015 |
| Sarcoma | 1 | Aug 28, 2014 |
| Sudden cardiac death | 1 | Aug 28, 2014 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 2 | Mar 11, 2015 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 11 | Nov 22, 2015 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 13 | Nov 22, 2015 |
| Tuberous sclerosis 2 | 1 | Feb 29, 2016 |
| Tuberous sclerosis and lymphangiomyomatosis | 1 | Aug 28, 2014 |
| Tuberous sclerosis syndrome | 17 | Oct 25, 2017 |
| Turcot syndrome | 2 | Aug 28, 2014 |
| Von Hippel-Lindau syndrome | 5 | Oct 25, 2017 |
| Wilson disease | 4 | Nov 22, 2015 |
