| Alagille syndrome due to a JAG1 point mutation | 1 | Sep 1, 2023 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Sep 1, 2023 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Sep 1, 2023 |
| Amyotrophic lateral sclerosis type 4 | 1 | Sep 1, 2023 |
| Aneurysm-osteoarthritis syndrome | 1 | Sep 1, 2023 |
| Aortic aneurysm, familial thoracic 9 | 1 | Sep 1, 2023 |
| Arrhythmogenic right ventricular dysplasia 13 | 1 | Sep 1, 2023 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Jun 13, 2023 |
| Ataxia-telangiectasia syndrome | 1 | Jun 13, 2023 |
| Atrial septal defect 6 | 1 | Sep 1, 2023 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Sep 1, 2023 |
| Autosomal dominant Parkinson disease 8 | 1 | Sep 1, 2023 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Sep 1, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Jun 13, 2023 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Sep 1, 2023 |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 | Sep 1, 2023 |
| Autosomal dominant striatal neurodegeneration type 1 | 1 | Jun 13, 2023 |
| Autosomal recessive ataxia, Beauce type | 2 | Jun 13, 2023 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Jun 13, 2023 |
| Autosomal recessive congenital ichthyosis 4A | 2 | Jun 13, 2023 |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 | Jun 13, 2023 |
| Autosomal recessive spinocerebellar ataxia 15 | 1 | Jun 13, 2023 |
| Becker muscular dystrophy | 2 | Sep 1, 2023 |
| Bethlem myopathy 2 | 1 | Sep 1, 2023 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 2 | Sep 1, 2023 |
| Bloom syndrome | 1 | Sep 1, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 3 | Sep 1, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 5 | Sep 1, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 2 | Sep 1, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 | Sep 1, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 2 | Sep 1, 2023 |
| Brugada syndrome 1 | 2 | Sep 1, 2023 |
| Brugada syndrome 3 | 2 | Sep 1, 2023 |
| CHARGE syndrome | 1 | Jun 13, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Sep 1, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 2 | Sep 1, 2023 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Sep 1, 2023 |
| Cataract 1 multiple types | 1 | Sep 1, 2023 |
| Cataract 36 | 1 | Jun 13, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 1 | Jun 13, 2023 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Sep 1, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Jun 13, 2023 |
| Charcot-Marie-Tooth disease type 1B | 1 | Jun 13, 2023 |
| Charcot-Marie-Tooth disease type 2I | 1 | Jun 13, 2023 |
| Charcot-Marie-Tooth disease type 2J | 1 | Jun 13, 2023 |
| Coffin-Siris syndrome 1 | 3 | Sep 1, 2023 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Sep 1, 2023 |
| Colorectal cancer, susceptibility to, 12 | 1 | Jun 13, 2023 |
| Congenital myotonia, autosomal recessive form | 5 | Sep 1, 2023 |
| Cornelia de Lange syndrome 1 | 1 | Sep 1, 2023 |
| Cutis laxa, autosomal dominant 1 | 1 | Sep 1, 2023 |
| Cystic fibrosis | 1 | Sep 1, 2023 |
| Developmental and epileptic encephalopathy 6B | 1 | Sep 1, 2023 |
| Developmental and epileptic encephalopathy 94 | 2 | Jun 13, 2023 |
| Developmental and epileptic encephalopathy, 4 | 1 | Jun 13, 2023 |
| Developmental and epileptic encephalopathy, 5 | 1 | Jun 13, 2023 |
| Developmental and epileptic encephalopathy, 54 | 1 | Sep 1, 2023 |
| Developmental and epileptic encephalopathy, 7 | 1 | Jun 13, 2023 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Sep 1, 2023 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Sep 1, 2023 |
| Ehlers-Danlos syndrome, classic type, 1 | 1 | Jun 13, 2023 |
| Ehlers-Danlos syndrome, type 4 | 1 | Sep 1, 2023 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Sep 1, 2023 |
| Episodic ataxia type 2 | 1 | Sep 1, 2023 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 1 | Jun 13, 2023 |
| Familial adenomatous polyposis 4 | 1 | Sep 1, 2023 |
| Familial cancer of breast | 5 | Sep 1, 2023 |
| Familial cold autoinflammatory syndrome 2 | 1 | Sep 1, 2023 |
| Familial ovarian cancer | 1 | Sep 1, 2023 |
| Familial temporal lobe epilepsy 7 | 1 | Jun 13, 2023 |
| Fanconi anemia complementation group C | 1 | Sep 1, 2023 |
| Focal segmental glomerulosclerosis 7 | 1 | Sep 1, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 | Sep 1, 2023 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Sep 1, 2023 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Jun 13, 2023 |
| Glycogen storage disease IXb | 1 | Sep 1, 2023 |
| Growth delay due to insulin-like growth factor I resistance | 2 | Jun 13, 2023 |
| Hearing loss, autosomal dominant 37 | 1 | Sep 1, 2023 |
| Hemochromatosis type 4 | 1 | Sep 1, 2023 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Sep 1, 2023 |
| Hereditary spastic paraplegia 10 | 2 | Sep 1, 2023 |
| Hereditary spastic paraplegia 4 | 2 | Sep 1, 2023 |
| Hereditary spastic paraplegia 50 | 1 | Sep 1, 2023 |
| Hereditary spastic paraplegia 8 | 1 | Sep 1, 2023 |
| Hereditary spastic paraplegia 9A | 1 | Jun 13, 2023 |
| Hereditary spherocytosis type 1 | 1 | Sep 1, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Sep 1, 2023 |
| Hyperkalemic periodic paralysis | 1 | Sep 1, 2023 |
| Hypertrophic cardiomyopathy 4 | 2 | Sep 1, 2023 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Jun 13, 2023 |
| Hypokalemic periodic paralysis, type 2 | 2 | Sep 1, 2023 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Sep 1, 2023 |
| Intellectual disability, X-linked 21 | 1 | Sep 1, 2023 |
| Intellectual disability, X-linked 99 | 1 | Sep 1, 2023 |
| Intellectual disability, autosomal dominant 13 | 3 | Sep 1, 2023 |
| Intellectual disability, autosomal dominant 14 | 1 | Jun 13, 2023 |
| Intellectual disability, autosomal dominant 22 | 1 | Jun 13, 2023 |
| Intellectual disability, autosomal dominant 5 | 1 | Sep 1, 2023 |
| Intellectual disability, autosomal dominant 6 | 2 | Sep 1, 2023 |
| Intellectual disability, autosomal recessive 1 | 1 | Sep 1, 2023 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Sep 1, 2023 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 1 | Jun 13, 2023 |
| Jalili syndrome | 1 | Sep 1, 2023 |
| KBG syndrome | 4 | Sep 1, 2023 |
| Kabuki syndrome 1 | 2 | Sep 1, 2023 |
| Left ventricular noncompaction 8 | 1 | Sep 1, 2023 |
| Leydig cell agenesis | 1 | Jun 13, 2023 |
| Loeys-Dietz syndrome 4 | 1 | Sep 1, 2023 |
| Long QT syndrome 8 | 2 | Sep 1, 2023 |
| Lynch syndrome 1 | 1 | Sep 1, 2023 |
| Lynch syndrome 5 | 3 | Sep 1, 2023 |
| Malan overgrowth syndrome | 1 | Sep 1, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Jun 13, 2023 |
| Marfan syndrome | 1 | Sep 1, 2023 |
| Marshall-Smith syndrome | 1 | Sep 1, 2023 |
| Menke-Hennekam syndrome 2 | 1 | Jun 13, 2023 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | Jun 13, 2023 |
| Migraine, familial hemiplegic, 1 | 1 | Jun 13, 2023 |
| Moyamoya disease 2 | 1 | Sep 1, 2023 |
| Muir-Torré syndrome | 1 | Sep 1, 2023 |
| Myofibrillar myopathy 5 | 1 | Sep 1, 2023 |
| Myopathy, distal, with rimmed vacuoles | 1 | Sep 1, 2023 |
| Nemaline myopathy 6 | 1 | Sep 1, 2023 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 1 | Sep 1, 2023 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 1 | Sep 1, 2023 |
| Neurofibromatosis, type 1 | 7 | Sep 1, 2023 |
| Neurofibromatosis-Noonan syndrome | 1 | Sep 1, 2023 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | Sep 1, 2023 |
| Nicolaides-Baraitser syndrome | 1 | Jun 13, 2023 |
| Oculocutaneous albinism type 1A | 1 | Sep 1, 2023 |
| Oculocutaneous albinism type 1B | 1 | Sep 1, 2023 |
| PTEN hamartoma tumor syndrome | 1 | Sep 1, 2023 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 1 | Sep 1, 2023 |
| Perlman syndrome | 1 | Sep 1, 2023 |
| Pheochromocytoma/paraganglioma syndrome 5 | 1 | Jun 13, 2023 |
| Pitt-Hopkins syndrome | 1 | Sep 1, 2023 |
| Polycystic kidney disease, adult type | 1 | Jun 13, 2023 |
| Polycystic liver disease 3 with or without kidney cysts | 1 | Sep 1, 2023 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Sep 1, 2023 |
| Progressive myoclonic epilepsy type 7 | 1 | Sep 1, 2023 |
| Protoporphyria, erythropoietic, 1 | 1 | Jun 13, 2023 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 1 | Jun 13, 2023 |
| Retinitis pigmentosa 25 | 1 | Jun 13, 2023 |
| Retinitis pigmentosa 39 | 1 | Jun 13, 2023 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Sep 1, 2023 |
| Scapuloperoneal spinal muscular atrophy | 1 | Sep 1, 2023 |
| Seckel syndrome 6 | 2 | Jun 13, 2023 |
| Senior-Loken syndrome 5 | 1 | Sep 1, 2023 |
| Severe myoclonic epilepsy in infancy | 1 | Sep 1, 2023 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 1 | Jun 13, 2023 |
| Sotos syndrome | 2 | Sep 1, 2023 |
| Spinocerebellar ataxia 45 | 2 | Sep 1, 2023 |
| Spondylocarpotarsal synostosis syndrome | 1 | Jun 13, 2023 |
| Stickler syndrome type 2 | 1 | Sep 1, 2023 |
| Syndromic X-linked intellectual disability 94 | 1 | Sep 1, 2023 |
| Syndromic X-linked intellectual disability Najm type | 1 | Sep 1, 2023 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Sep 1, 2023 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Sep 1, 2023 |
| Timothy syndrome | 1 | Sep 1, 2023 |
| Tuberous sclerosis 2 | 1 | Sep 1, 2023 |
| Vesicoureteral reflux 8 | 1 | Sep 1, 2023 |
| X-linked Alport syndrome | 1 | Sep 1, 2023 |
| not provided | 3 | Sep 1, 2023 |
