| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Jun 29, 2026 |
| Acrocephalosyndactyly type I | 1 | Jan 9, 2026 |
| Acrofacial dysostosis Cincinnati type | 1 | Jan 9, 2026 |
| Actin accumulation myopathy | 1 | Jan 9, 2026 |
| Adams-Oliver syndrome 5 | 1 | Jan 9, 2026 |
| Adrenoleukodystrophy | 1 | Jan 9, 2026 |
| Adult hypophosphatasia | 1 | Jan 9, 2026 |
| Aicardi-Goutieres syndrome 5 | 1 | Jan 9, 2026 |
| Aicardi-Goutieres syndrome 7 | 1 | Jan 9, 2026 |
| Al Kaissi syndrome | 1 | Jan 9, 2026 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 2 | Jan 9, 2026 |
| Alexander disease | 1 | Jan 9, 2026 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 2 | Jan 9, 2026 |
| Alzheimer disease 4 | 1 | Jan 9, 2026 |
| Amelogenesis imperfecta type 1E | 1 | Jan 9, 2026 |
| Amyotrophic lateral sclerosis | 2 | Jan 6, 2023 |
| Amyotrophic lateral sclerosis type 1 | 1 | Oct 10, 2023 |
| Amyotrophic lateral sclerosis type 10 | 12 | Oct 10, 2023 |
| Amyotrophic lateral sclerosis type 12 | 3 | Jan 9, 2026 |
| Amyotrophic lateral sclerosis type 15 | 1 | Jan 9, 2026 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 2 | Jan 9, 2026 |
| Amyotrophic lateral sclerosis, susceptibility to, 25 | 1 | Oct 10, 2023 |
| Aortic aneurysm, familial thoracic 7 | 1 | Mar 6, 2024 |
| Arrhythmogenic right ventricular dysplasia 10 | 2 | Jan 9, 2026 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Jan 9, 2026 |
| Arrhythmogenic right ventricular dysplasia 9 | 2 | Jan 9, 2026 |
| Atrial conduction disease | 1 | Mar 6, 2024 |
| Atrial septal defect 4 | 1 | Jan 9, 2026 |
| Atrophia bulborum hereditaria | 1 | Oct 10, 2023 |
| Autism, susceptibility to, 17 | 1 | Jan 9, 2026 |
| Autism, susceptibility to, X-linked 1 | 1 | Jun 29, 2026 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Jun 29, 2026 |
| Autosomal dominant nonsyndromic hearing loss 11 | 3 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 20 | 2 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 2A | 2 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 | Mar 6, 2024 |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 | Jun 29, 2026 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Jan 9, 2026 |
| Autosomal dominant nonsyndromic hearing loss 7 | 1 | Jun 29, 2026 |
| Autosomal dominant polycystic kidney disease | 2 | Nov 15, 2022 |
| Autosomal dominant slowed nerve conduction velocity | 1 | Mar 6, 2024 |
| Autosomal recessive Alport syndrome | 1 | Jan 9, 2026 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | Jan 9, 2026 |
| Autosomal recessive juvenile Parkinson disease 2 | 3 | Jan 9, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 | Jun 29, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Jun 29, 2026 |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 18B | 4 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 21 | 2 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 | Jun 29, 2026 |
| Autosomal recessive nonsyndromic hearing loss 3 | 5 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 37 | 1 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 | Jun 29, 2026 |
| Autosomal recessive nonsyndromic hearing loss 77 | 3 | Jun 29, 2026 |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 | Jan 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 84A | 2 | Jan 9, 2026 |
| Autosomal recessive spastic paraplegia type 76 | 1 | Jan 9, 2026 |
| Baraitser-winter syndrome 2 | 1 | Jan 9, 2026 |
| Basal cell nevus syndrome 2 | 1 | Jan 9, 2026 |
| Basilicata-Akhtar syndrome | 1 | Jan 9, 2026 |
| Bethlem myopathy 1A | 1 | Jan 9, 2026 |
| Blau syndrome | 1 | Jan 9, 2026 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Jan 9, 2026 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Mar 6, 2024 |
| Brain small vessel disease 2A, autosomal dominant | 2 | Jan 9, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 9 | Mar 6, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 8 | Mar 6, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 1 | Oct 10, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 | Mar 6, 2024 |
| Brugada syndrome 1 | 1 | Jan 9, 2026 |
| Brugada syndrome 4 | 2 | Jun 29, 2026 |
| CHARGE syndrome | 2 | Mar 6, 2024 |
| CHD7-related CHARGE syndrome | 1 | Jan 9, 2026 |
| Carcinoma of pancreas | 1 | Jul 15, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Jan 9, 2026 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Jan 9, 2026 |
| Cardiomyopathy | 2 | Jan 6, 2023 |
| Cardiomyopathy, dilated, 2K | 2 | Jan 9, 2026 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 1 | Jan 9, 2026 |
| Cardiomyopathy, familial hypertrophic 27 | 1 | Jan 9, 2026 |
| Cataract 16 multiple types | 1 | Jan 9, 2026 |
| Cataract 4 multiple types | 1 | Jan 9, 2026 |
| Central core myopathy | 1 | Jan 9, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 4 | Jun 29, 2026 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Mar 6, 2024 |
| Charcot-Marie-Tooth disease axonal type 2CC | 1 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease axonal type 2N | 2 | Jun 29, 2026 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease axonal type 2V | 2 | Jun 29, 2026 |
| Charcot-Marie-Tooth disease axonal type 2Z | 2 | Jun 29, 2026 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease type 1B | 1 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease type 1C | 1 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Mar 6, 2024 |
| Charcot-Marie-Tooth disease type 2D | 2 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease type 2I | 1 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease type 2J | 1 | Jan 9, 2026 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Oct 10, 2023 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 2 | Jan 9, 2026 |
| Classic homocystinuria | 1 | Jan 9, 2026 |
| Coffin-Siris syndrome 1 | 2 | Jan 9, 2026 |
| Coffin-Siris syndrome 10 | 1 | Oct 10, 2023 |
| Colorectal cancer | 5 | Nov 15, 2022 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 8 | Jan 9, 2026 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 | Jun 29, 2026 |
| Congenital contractural arachnodactyly | 1 | Jan 9, 2026 |
| Congenital heart defects, multiple types, 2 | 1 | Jan 9, 2026 |
| Congenital multicore myopathy with external ophthalmoplegia | 2 | Jan 9, 2026 |
| Congenital myopathy 2c, severe infantile, autosomal dominant | 1 | Jan 9, 2026 |
| Congenital myotonia, autosomal recessive form | 2 | Jan 9, 2026 |
| Congenital vertical talus | 1 | Jan 9, 2026 |
| Coronary artery disease, autosomal dominant, 1 | 1 | Jan 9, 2026 |
| Creatine transporter deficiency | 1 | Jan 9, 2026 |
| Cystic fibrosis | 1 | Nov 15, 2022 |
| DDX41-related hematologic malignancy predisposition syndrome | 1 | Jan 9, 2026 |
| DYRK1A-related intellectual disability syndrome | 1 | Jan 9, 2026 |
| Developmental and epileptic encephalopathy 92 | 1 | Jan 9, 2026 |
| Developmental and epileptic encephalopathy, 69 | 1 | Jan 9, 2026 |
| Developmental and epileptic encephalopathy, 7 | 1 | Jan 9, 2026 |
| Developmental and epileptic encephalopathy, 9 | 1 | Mar 6, 2024 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | Jan 9, 2026 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Mar 6, 2024 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Jan 9, 2026 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Jun 29, 2026 |
| Dilated cardiomyopathy 1A | 2 | Jan 9, 2026 |
| Dilated cardiomyopathy 1AA | 1 | Jan 9, 2026 |
| Dilated cardiomyopathy 1CC | 1 | Jan 9, 2026 |
| Dilated cardiomyopathy 1D | 1 | Mar 6, 2024 |
| Dilated cardiomyopathy 1E | 1 | Jan 9, 2026 |
| Dilated cardiomyopathy 1G | 13 | Jun 29, 2026 |
| Dilated cardiomyopathy 1I | 1 | Jan 9, 2026 |
| Dilated cardiomyopathy 1II | 1 | Jan 9, 2026 |
| Dilated cardiomyopathy 1R | 1 | Jan 9, 2026 |
| Dilated cardiomyopathy 1S | 5 | Jan 9, 2026 |
| Dilated cardiomyopathy 1Y | 3 | Jan 9, 2026 |
| Duchenne muscular dystrophy | 2 | Jun 29, 2026 |
| Dystonia 25 | 1 | Jan 9, 2026 |
| Ehlers-Danlos syndrome, classic type, 1 | 2 | Mar 6, 2024 |
| Ehlers-Danlos syndrome, classic-like, 2 | 1 | Jan 9, 2026 |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 1 | Jan 9, 2026 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 4 | Jan 9, 2026 |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 | Mar 6, 2024 |
| Endometrial carcinoma | 2 | Jan 9, 2026 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Mar 6, 2024 |
| Epilepsy, familial focal, with variable foci 4 | 1 | Mar 6, 2024 |
| Epilepsy, familial temporal lobe, 1 | 1 | Mar 6, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Jan 9, 2026 |
| Familial Mediterranean fever, autosomal dominant | 1 | Nov 15, 2022 |
| Familial adenomatous polyposis 1 | 5 | Mar 6, 2024 |
| Familial adenomatous polyposis 2 | 6 | Jun 29, 2026 |
| Familial adenomatous polyposis 3 | 1 | Oct 10, 2023 |
| Familial cancer of breast | 4 | Jun 29, 2026 |
| Familial encephalopathy with neuroserpin inclusion bodies | 1 | Mar 6, 2024 |
| Familial hypokalemia-hypomagnesemia | 1 | Jan 9, 2026 |
| Familial isolated deficiency of vitamin E | 1 | Jan 9, 2026 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 2 | Nov 15, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Jan 9, 2026 |
| Generalized dominant dystrophic epidermolysis bullosa | 1 | Jun 29, 2026 |
| Genitopatellar syndrome | 1 | Jan 9, 2026 |
| Genitourinary and/or brain malformation syndrome | 1 | Jan 9, 2026 |
| Global developmental delay | 17 | Jan 6, 2023 |
| Global developmental delay with or without impaired intellectual development | 1 | Mar 6, 2024 |
| HNSHA due to aldolase A deficiency | 1 | Jun 29, 2026 |
| Hearing impairment | 1 | Nov 15, 2022 |
| Hearing loss, autosomal dominant 73 | 1 | Jan 9, 2026 |
| Hearing loss, autosomal dominant 82 | 1 | Jan 9, 2026 |
| Hearing loss, autosomal dominant 84 | 1 | Jun 29, 2026 |
| Hearing loss, autosomal recessive 106 | 1 | Jan 9, 2026 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Nov 15, 2022 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Jan 9, 2026 |
| Hereditary nonpolyposis colorectal carcinoma | 1 | Jan 6, 2023 |
| Hereditary pancreatitis | 1 | Oct 10, 2023 |
| Hereditary spastic paraplegia 10 | 2 | Jan 9, 2026 |
| Hereditary spastic paraplegia 15 | 1 | Jan 9, 2026 |
| Hereditary spastic paraplegia 30 | 1 | Mar 6, 2024 |
| Hereditary spastic paraplegia 31 | 1 | Jan 9, 2026 |
| Hereditary spastic paraplegia 4 | 4 | Jan 9, 2026 |
| Hereditary spastic paraplegia 73 | 1 | Mar 6, 2024 |
| Hereditary spastic paraplegia 8 | 3 | Mar 6, 2024 |
| Hereditary xanthinuria type 1 | 1 | Jan 9, 2026 |
| Holoprosencephaly 5 | 1 | Jun 29, 2026 |
| Holoprosencephaly 7 | 2 | Jan 9, 2026 |
| Hypercholanemia, familial, 2 | 1 | Jan 9, 2026 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Oct 10, 2023 |
| Hyperprolinemia type 2 | 2 | Jan 9, 2026 |
| Hypertrophic cardiomyopathy | 1 | Nov 15, 2022 |
| Hypertrophic cardiomyopathy 1 | 6 | Jan 9, 2026 |
| Hypertrophic cardiomyopathy 26 | 4 | Jan 9, 2026 |
| Hypertrophic cardiomyopathy 3 | 2 | Jan 9, 2026 |
| Hypertrophic cardiomyopathy 4 | 4 | Jan 9, 2026 |
| Hypertrophic cardiomyopathy 9 | 3 | Jan 9, 2026 |
| Immune dysregulation, autoimmunity, and autoinflammation | 1 | Jun 29, 2026 |
| Inflammatory bowel disease 30 | 1 | Jan 9, 2026 |
| Intellectual developmental disorder 61 | 1 | Mar 6, 2024 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Mar 6, 2024 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 1 | Jan 9, 2026 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Jun 29, 2026 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Jan 9, 2026 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Jan 9, 2026 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | Jan 9, 2026 |
| Intellectual developmental disorder, autosomal dominant 67 | 1 | Jun 29, 2026 |
| Intellectual disability, X-linked 1 | 1 | Jan 9, 2026 |
| Intellectual disability, X-linked 19 | 1 | Jan 9, 2026 |
| Intellectual disability, X-linked 21 | 1 | Jan 9, 2026 |
| Intellectual disability, X-linked 61 | 1 | Jan 9, 2026 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Jan 9, 2026 |
| Intellectual disability, autosomal dominant 34 | 1 | Jan 9, 2026 |
| Intellectual disability, autosomal dominant 45 | 1 | Mar 6, 2024 |
| Intellectual disability, autosomal dominant 50 | 2 | Jun 29, 2026 |
| Intellectual disability, autosomal dominant 52 | 1 | Jan 9, 2026 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2 | Jan 9, 2026 |
| Juvenile polyposis syndrome | 1 | Oct 10, 2023 |
| Kleefstra syndrome 2 | 1 | Mar 6, 2024 |
| LZTR1-related schwannomatosis | 3 | Jan 9, 2026 |
| Left ventricular noncompaction 10 | 1 | Jan 9, 2026 |
| Left ventricular noncompaction 7 | 1 | Mar 6, 2024 |
| Leri-Weill dyschondrosteosis | 1 | Jan 9, 2026 |
| Lissencephaly 10 | 1 | Mar 6, 2024 |
| Lissencephaly due to TUBA1A mutation | 1 | Jun 29, 2026 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Jun 29, 2026 |
| Long QT syndrome 11 | 1 | Jan 9, 2026 |
| Long QT syndrome 2 | 3 | Jun 29, 2026 |
| Long QT syndrome 3 | 2 | Jan 9, 2026 |
| Lopes-Maciel-Rodan syndrome | 1 | Oct 10, 2023 |
| Lynch syndrome 1 | 17 | Jan 9, 2026 |
| Lynch syndrome 4 | 4 | Mar 6, 2024 |
| Lynch syndrome 5 | 8 | Jan 9, 2026 |
| Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | 1 | Jan 9, 2026 |
| Marfan syndrome | 6 | Jan 9, 2026 |
| Melanoma | 1 | Jan 6, 2023 |
| Microcephaly 9, primary, autosomal recessive | 1 | Mar 6, 2024 |
| Migraine, familial hemiplegic, 1 | 1 | Jan 9, 2026 |
| Mitochondrial trifunctional protein deficiency 2 | 1 | Jan 9, 2026 |
| Miyoshi muscular dystrophy 3 | 1 | Jan 9, 2026 |
| Moyamoya disease 2 | 1 | Jan 9, 2026 |
| Muscular dystrophy | 2 | Jan 6, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 | Jan 9, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 | Jan 9, 2026 |
| Myofibrillar myopathy 3 | 2 | Jan 9, 2026 |
| Myofibrillar myopathy 4 | 1 | Jan 9, 2026 |
| Myofibrillar myopathy 5 | 1 | Mar 6, 2024 |
| Myopathy | 4 | Nov 15, 2022 |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 1 | Nov 15, 2022 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 | Jan 9, 2026 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Mar 6, 2024 |
| Nail-patella syndrome | 1 | Jan 9, 2026 |
| Nail-patella-like renal disease | 1 | Jan 9, 2026 |
| Nemaline myopathy 6 | 1 | Jun 29, 2026 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Jan 9, 2026 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Jan 9, 2026 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Jun 29, 2026 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 1 | Jan 9, 2026 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 1 | Jun 29, 2026 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 2 | Mar 6, 2024 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Jan 9, 2026 |
| Neurofibromatosis, type 1 | 7 | Oct 10, 2023 |
| Neurofibromatosis-Noonan syndrome | 1 | Nov 15, 2022 |
| Neuronopathy, distal hereditary motor, type 5B | 1 | Jan 9, 2026 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Mar 6, 2024 |
| Neuropathy, hereditary sensory, type 1F | 1 | Jan 9, 2026 |
| Neuropathy, hereditary sensory, type 2C | 1 | Jan 9, 2026 |
| Niemann-Pick disease, type C1 | 1 | Jan 9, 2026 |
| Noonan syndrome 2 | 2 | Jan 9, 2026 |
| Oculocutaneous albinism type 1A | 1 | Jun 29, 2026 |
| Oculocutaneous albinism type 1B | 1 | Jun 29, 2026 |
| Oculopharyngeal muscular dystrophy 1 | 1 | Jun 29, 2026 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Jan 9, 2026 |
| Palmoplantar keratoderma, punctate type 1A | 1 | Jan 9, 2026 |
| Pan-Chung-Bellen syndrome | 1 | Jun 29, 2026 |
| Pancreatic cancer, susceptibility to, 2 | 2 | Oct 10, 2023 |
| Pancreatic cancer, susceptibility to, 4 | 1 | Oct 10, 2023 |
| Parkinson disease, late-onset | 1 | Jan 9, 2026 |
| Phelan-McDermid syndrome | 3 | Jun 29, 2026 |
| Pitt-Hopkins syndrome | 1 | Jun 29, 2026 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 1 | Oct 10, 2023 |
| Polycystic kidney disease 4 | 2 | Oct 10, 2023 |
| Polycystic kidney disease, adult type | 3 | Jan 9, 2026 |
| Polyposis syndrome, hereditary mixed, 2 | 1 | Oct 10, 2023 |
| Primary erythromelalgia | 2 | Jan 9, 2026 |
| Progressive bulbar palsy of childhood | 1 | Jun 29, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Mar 6, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 1 | Jan 9, 2026 |
| Pseudopseudohypoparathyroidism | 1 | Jan 9, 2026 |
| Rahman syndrome | 1 | Jan 9, 2026 |
| Renal tubular acidosis with progressive nerve deafness | 1 | Jan 9, 2026 |
| Rett syndrome | 1 | Jan 9, 2026 |
| Rienhoff syndrome | 1 | Jan 9, 2026 |
| Sandhoff disease | 1 | Mar 6, 2024 |
| See cases | 24 | Mar 6, 2024 |
| Seizure | 1 | Nov 15, 2022 |
| Seizures, benign familial neonatal, 1 | 1 | Jan 9, 2026 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Mar 6, 2024 |
| Severe myoclonic epilepsy in infancy | 1 | Oct 10, 2023 |
| Shprintzen-Goldberg syndrome | 1 | Jan 9, 2026 |
| Sialidosis type 2 | 2 | Jan 9, 2026 |
| Sifrim-Hitz-Weiss syndrome | 1 | Jan 9, 2026 |
| Silver-Russell syndrome 5 | 1 | Jan 9, 2026 |
| Silver-russell syndrome 4 | 1 | Jun 29, 2026 |
| Skraban-Deardorff syndrome | 1 | Oct 10, 2023 |
| Snijders Blok-Campeau syndrome | 1 | Jan 9, 2026 |
| Snijders blok-fisher syndrome | 1 | Mar 6, 2024 |
| Sotos syndrome | 1 | Mar 6, 2024 |
| Spastic paraplegia | 1 | Nov 15, 2022 |
| Spastic paraplegia 82, autosomal recessive | 1 | Mar 6, 2024 |
| Spastic tetraplegia and axial hypotonia, progressive | 1 | Jan 9, 2026 |
| Spinocerebellar ataxia 43 | 1 | Jan 9, 2026 |
| Spinocerebellar ataxia 47 | 1 | Jun 29, 2026 |
| Spinocerebellar ataxia 48 | 4 | Jun 29, 2026 |
| Spinocerebellar ataxia 49 | 1 | Mar 6, 2024 |
| Spinocerebellar ataxia type 14 | 1 | Jun 29, 2026 |
| Spinocerebellar ataxia type 23 | 1 | Oct 10, 2023 |
| Spondylocostal dysostosis 4, autosomal recessive | 1 | Jan 9, 2026 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 1 | Jan 9, 2026 |
| Stickler syndrome type 2 | 1 | Jun 29, 2026 |
| Syndromic X-linked intellectual disability 14 | 1 | Mar 6, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Jan 9, 2026 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Jan 9, 2026 |
| Tibial muscular dystrophy | 1 | Jan 9, 2026 |
| Treacher Collins syndrome 1 | 1 | Mar 6, 2024 |
| Trichorhinophalangeal dysplasia type I | 1 | Jun 29, 2026 |
| Usher syndrome type 1 | 1 | Jan 9, 2026 |
| Usher syndrome type 1D | 2 | Jan 9, 2026 |
| Usher syndrome type 2A | 2 | Jun 29, 2026 |
| Usher syndrome type 2C | 2 | Jan 9, 2026 |
| Vacuolar Neuromyopathy | 2 | Jun 29, 2026 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 1 | Mar 6, 2024 |
| Waardenburg syndrome type 4A | 1 | Jan 9, 2026 |
| X-linked myopathy with postural muscle atrophy | 1 | Jan 9, 2026 |
| not provided | 6 | Oct 10, 2023 |
