| 8q24.3 microdeletion syndrome | 1 | Aug 10, 2020 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Aug 7, 2020 |
| ASXL3-related disorder | 1 | Jan 4, 2025 |
| Acrocephalosyndactyly type I | 1 | Aug 10, 2020 |
| Adenylosuccinate lyase deficiency | 1 | Aug 10, 2020 |
| Aicardi-Goutieres syndrome 2 | 1 | Aug 10, 2020 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Apr 10, 2024 |
| Alstrom syndrome | 6 | Jun 27, 2024 |
| Andersen Tawil syndrome | 1 | Mar 28, 2024 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Aug 7, 2020 |
| Arrhythmogenic right ventricular dysplasia 1 | 1 | Mar 15, 2024 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Jun 27, 2024 |
| Arrhythmogenic right ventricular dysplasia 11 | 2 | Jan 21, 2025 |
| Arrhythmogenic right ventricular dysplasia 5 | 2 | Jan 21, 2025 |
| Arrhythmogenic right ventricular dysplasia 8 | 4 | May 27, 2024 |
| Arrhythmogenic right ventricular dysplasia 9 | 3 | Jul 31, 2024 |
| Ataxia-pancytopenia syndrome | 1 | Aug 7, 2020 |
| Atrial fibrillation, familial, 12 | 1 | May 27, 2024 |
| Atrial fibrillation, familial, 15 | 1 | Jun 27, 2024 |
| Atrial septal defect 4 | 1 | Jul 31, 2024 |
| Autism, susceptibility to, X-linked 4 | 1 | Jan 25, 2024 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Aug 10, 2020 |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 | Nov 18, 2024 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Aug 10, 2020 |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 | Jan 18, 2024 |
| Baraitser-Winter syndrome 1 | 1 | Jan 9, 2024 |
| Becker muscular dystrophy | 1 | May 13, 2024 |
| Biotinidase deficiency | 2 | Jan 25, 2024 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Jan 4, 2024 |
| Brachydactyly type B2 | 1 | Aug 19, 2020 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | Oct 25, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 | Aug 10, 2020 |
| Brugada syndrome 1 | 3 | Jan 21, 2025 |
| CACNA1A-associated disorders | 1 | Aug 7, 2020 |
| CBL-related disorder | 2 | Nov 18, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Jan 25, 2024 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Mar 15, 2024 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 1 | Feb 5, 2024 |
| Cardiofaciocutaneous syndrome 3 | 1 | Apr 9, 2024 |
| Cardiomyopathy | 1 | Jan 4, 2025 |
| Cardiomyopathy, dilated, 2E | 1 | Apr 9, 2024 |
| Cardiomyopathy, dilated, 2I | 2 | May 23, 2024 |
| Cardiomyopathy, familial hypertrophic 27 | 7 | Jun 27, 2024 |
| Cardiomyopathy, familial hypertrophic, 28 | 4 | Jan 4, 2025 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 | Mar 26, 2024 |
| Carnitine palmitoyltransferase II deficiency | 2 | Dec 10, 2024 |
| Cataract 46 juvenile-onset | 1 | Jun 27, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 | Nov 18, 2024 |
| Cerebro-costo-mandibular syndrome | 1 | Aug 11, 2020 |
| Cobalamin C disease | 1 | Nov 13, 2023 |
| Coffin-Siris syndrome 1 | 2 | Dec 12, 2023 |
| Coffin-Siris syndrome 8 | 1 | Jan 4, 2025 |
| Cohen syndrome | 1 | Jan 4, 2025 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 1 | Aug 7, 2020 |
| Combined immunodeficiency due to GINS1 deficiency | 2 | Aug 10, 2020 |
| Combined immunodeficiency due to LRBA deficiency | 1 | Nov 8, 2023 |
| Combined malonic and methylmalonic acidemia | 1 | Jan 25, 2024 |
| Complex cortical dysplasia with other brain malformations 1 | 1 | Jan 5, 2024 |
| Congenital isolated adrenocorticotropic hormone deficiency | 1 | Aug 10, 2020 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Aug 10, 2020 |
| Creatine transporter deficiency | 2 | Aug 10, 2020 |
| Crouzon syndrome | 1 | Aug 10, 2020 |
| Cystinosis | 1 | Dec 10, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | Aug 10, 2020 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Aug 27, 2020 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Jan 4, 2025 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Nov 8, 2023 |
| Developmental and epileptic encephalopathy, 32 | 1 | Aug 7, 2020 |
| Developmental and epileptic encephalopathy, 62 | 1 | Jan 19, 2024 |
| Diamond-Blackfan anemia 8 | 1 | Aug 10, 2020 |
| Dilated cardiomyopathy 1A | 1 | Mar 26, 2024 |
| Dilated cardiomyopathy 1D | 1 | Jan 21, 2025 |
| Dilated cardiomyopathy 1DD | 4 | Dec 10, 2024 |
| Dilated cardiomyopathy 1G | 5 | Jun 11, 2024 |
| Dilated cardiomyopathy 1KK | 2 | Jun 11, 2024 |
| Dilated cardiomyopathy 1P | 1 | Jul 31, 2024 |
| Dilated cardiomyopathy 1S | 2 | Apr 9, 2024 |
| Dilated cardiomyopathy 3B | 1 | Jan 4, 2025 |
| Ehlers-Danlos syndrome, type 4 | 2 | Apr 29, 2024 |
| Epilepsy, familial focal, with variable foci 4 | 1 | Nov 13, 2023 |
| Episodic pain syndrome, familial, 2 | 1 | Apr 9, 2024 |
| FLNC-associated cardiomyopathy | 1 | Aug 10, 2020 |
| FRAXE | 1 | Jan 4, 2025 |
| Fabry disease | 1 | Aug 10, 2020 |
| Familial Mediterranean fever | 1 | Nov 18, 2024 |
| Familial aplasia of the vermis | 2 | Dec 10, 2024 |
| Familial hypobetalipoproteinemia 1 | 1 | Jan 4, 2025 |
| Familial temporal lobe epilepsy 7 | 1 | Oct 25, 2023 |
| Fanconi anemia complementation group A | 2 | Oct 25, 2023 |
| Fibromatosis, gingival, 1 | 1 | Mar 26, 2024 |
| Galloway-Mowat syndrome | 1 | Nov 18, 2024 |
| Glucocorticoid deficiency 5 | 1 | Jun 11, 2024 |
| Glycogen storage disease type III | 2 | Mar 26, 2024 |
| Hao-Fountain syndrome | 1 | Jan 5, 2024 |
| Hemochromatosis type 1 | 3 | Apr 25, 2024 |
| Hereditary spastic paraplegia 7 | 1 | Aug 11, 2020 |
| Heterotopia, periventricular, X-linked dominant | 2 | Jan 19, 2024 |
| Hogue-Janssens syndrome 1 | 1 | Aug 10, 2020 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Jan 4, 2025 |
| Hypercholesterolemia, familial, 1 | 3 | Jul 31, 2024 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Jan 4, 2025 |
| Hypertrophic cardiomyopathy 1 | 3 | Jun 6, 2024 |
| Hypertrophic cardiomyopathy 10 | 1 | Mar 28, 2024 |
| Hypertrophic cardiomyopathy 2 | 1 | Jan 21, 2025 |
| Hypertrophic cardiomyopathy 26 | 1 | Mar 26, 2024 |
| Hypertrophic cardiomyopathy 4 | 4 | May 13, 2024 |
| Hypertrophic cardiomyopathy 6 | 1 | Jun 26, 2024 |
| Hypophosphatemic rickets | 1 | Dec 10, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Aug 10, 2020 |
| Immunodeficiency, common variable, 2 | 1 | Aug 10, 2020 |
| Infantile liver failure syndrome 2 | 1 | Aug 19, 2020 |
| Intellectual disability, X-linked 1 | 1 | Nov 8, 2023 |
| Intellectual disability, X-linked 102 | 1 | Aug 10, 2020 |
| Intellectual disability, X-linked 49 | 1 | Aug 10, 2020 |
| Intellectual disability, X-linked 99 | 1 | Oct 9, 2023 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Nov 13, 2023 |
| Intellectual disability, X-linked, syndromic 33 | 1 | Aug 11, 2020 |
| Intellectual disability, autosomal dominant 1 | 1 | Nov 3, 2023 |
| Intellectual disability, autosomal dominant 14 | 1 | Aug 19, 2020 |
| Intellectual disability, autosomal dominant 16 | 1 | Aug 10, 2020 |
| Intellectual disability, autosomal dominant 20 | 1 | Aug 7, 2020 |
| Intellectual disability, autosomal dominant 24 | 1 | Aug 7, 2020 |
| Intellectual disability, autosomal dominant 42 | 2 | Aug 10, 2020 |
| Intellectual disability, autosomal dominant 6 | 2 | Nov 13, 2023 |
| Intellectual disability, autosomal dominant 8 | 2 | Nov 13, 2023 |
| Intellectual disability, autosomal recessive 43 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal recessive 65 | 1 | Jan 25, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Aug 10, 2020 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 1 | Nov 3, 2023 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Jan 19, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Aug 7, 2020 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | Aug 7, 2020 |
| Joubert syndrome 10 | 1 | Aug 7, 2020 |
| Joubert syndrome 25 | 2 | Jan 25, 2024 |
| Kabuki syndrome 1 | 4 | Nov 13, 2023 |
| Koolen-de Vries syndrome | 1 | Aug 10, 2020 |
| LZTR1-related schwannomatosis | 4 | Jul 31, 2024 |
| Left ventricular noncompaction 8 | 1 | Apr 10, 2024 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 | Nov 2, 2023 |
| Loeys-Dietz syndrome 2 | 1 | Jan 4, 2025 |
| Long QT syndrome 11 | 1 | Apr 11, 2024 |
| Long QT syndrome 3 | 2 | Jan 21, 2025 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Aug 10, 2020 |
| Marfan syndrome | 1 | Jan 4, 2025 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 1 | Aug 10, 2020 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Aug 10, 2020 |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 1 | Jan 4, 2025 |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 | Mar 27, 2024 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 1 | Mar 7, 2024 |
| Muenke syndrome | 1 | Aug 7, 2020 |
| Multiple endocrine neoplasia type 2A | 1 | Nov 2, 2023 |
| Muscle AMP deaminase deficiency | 4 | Nov 3, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2 | May 23, 2024 |
| NSD2-associated disorder | 1 | Aug 10, 2020 |
| Naxos disease | 1 | Nov 18, 2024 |
| Nephronophthisis | 1 | Nov 18, 2024 |
| Neu-Laxova syndrome 2 | 2 | Aug 10, 2020 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Aug 10, 2020 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 2 | Aug 10, 2020 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Aug 10, 2020 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Jan 4, 2024 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 1 | Aug 10, 2020 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Aug 11, 2020 |
| Nizon-Isidor syndrome | 1 | Jan 25, 2024 |
| Noonan syndrome 9 | 2 | Apr 9, 2024 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 2, 2023 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Aug 10, 2020 |
| PRKAG2-related cardiomyopathy | 1 | Jan 21, 2025 |
| PSAT deficiency | 2 | Aug 10, 2020 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Aug 10, 2020 |
| Pfeiffer syndrome | 1 | Aug 10, 2020 |
| Pierson syndrome | 1 | Nov 18, 2024 |
| Pitt-Hopkins syndrome | 1 | Aug 10, 2020 |
| Primary familial hypertrophic cardiomyopathy | 1 | Feb 15, 2024 |
| Progressive familial heart block type IB | 1 | Apr 10, 2024 |
| Prostate cancer, hereditary, 2 | 1 | Apr 10, 2024 |
| Proximal symphalangism 1A | 1 | Aug 19, 2020 |
| Qualitative or quantitative defects of dystrophin | 1 | Jan 21, 2025 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Jan 25, 2024 |
| Renal carnitine transport defect | 4 | Mar 27, 2024 |
| Renal glycosuria | 1 | Nov 18, 2024 |
| Rett syndrome | 1 | Aug 10, 2020 |
| SMAD2-congenital heart disease and multiple congenital anomaly disorder | 1 | Aug 7, 2020 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Aug 10, 2020 |
| Senior-Loken syndrome | 1 | Nov 18, 2024 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Jan 9, 2024 |
| Short QT syndrome type 1 | 1 | Apr 11, 2024 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | Aug 19, 2020 |
| Stapes ankylosis with broad thumbs and toes | 1 | Aug 19, 2020 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Oct 25, 2023 |
| Sudden cardiac failure, alcohol-induced | 1 | Mar 4, 2024 |
| Sudden cardiac failure, infantile | 1 | Jun 26, 2024 |
| Symphalangism-brachydactyly syndrome | 1 | Aug 19, 2020 |
| Syndromic X-linked intellectual disability 14 | 1 | Aug 10, 2020 |
| Syndromic X-linked intellectual disability Nascimento type | 1 | Aug 17, 2020 |
| TBR1-related neurodevelopmental disorder | 1 | Jan 4, 2025 |
| TCF12-related craniosynostosis | 1 | Jan 17, 2024 |
| Tarsal-carpal coalition syndrome | 1 | Aug 19, 2020 |
| Thrombocythemia 1 | 1 | Aug 7, 2020 |
| Treacher Collins syndrome 1 | 2 | Dec 13, 2023 |
| Trichorhinophalangeal dysplasia type I | 1 | Nov 2, 2023 |
| Tuberous sclerosis 2 | 1 | Aug 10, 2020 |
| Usher syndrome type 1D | 2 | Dec 12, 2023 |
| Variegate porphyria | 1 | Aug 10, 2020 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Mar 7, 2024 |
| Vissers-Bodmer syndrome | 1 | Nov 8, 2023 |
| Weiss-Kruszka syndrome | 1 | Aug 11, 2020 |
| Wiedemann-Steiner syndrome | 3 | Nov 13, 2023 |
| Wilson disease | 1 | Dec 10, 2024 |
| X-linked Alport syndrome | 1 | Nov 8, 2023 |
| X-linked cardiomyopathies | 1 | Nov 18, 2024 |
| X-linked myopathies | 1 | Nov 18, 2024 |
| atypical Wolf-Hirschhorn syndrome | 1 | Aug 10, 2020 |
| autosomal dominant dilated cardiomyopathy | 1 | Nov 18, 2024 |
| autosomal dominant myopathies | 1 | Nov 18, 2024 |
| autosomal recessive myopathies | 1 | Nov 18, 2024 |
| focal and segmental glomerulosclerosis | 3 | Nov 18, 2024 |
| mitochondrial cardiomyopathy and sudden cardiac failure | 1 | Nov 18, 2024 |
| non-syndromic arrhythmogenic right ventricular cardiomyopathy | 1 | Nov 18, 2024 |
| not provided | 9 | Jan 21, 2025 |
| not specified | 2 | Aug 27, 2020 |
