| Ataxia-telangiectasia syndrome | 2 | Aug 20, 2018 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | May 29, 2024 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Mar 24, 2021 |
| Autosomal dominant optic atrophy classic form | 1 | Feb 19, 2021 |
| Autosomal recessive Alport syndrome | 1 | May 29, 2024 |
| Autosomal recessive multiple pterygium syndrome | 1 | May 29, 2024 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | May 5, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | May 25, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 3 | May 25, 2024 |
| Capillary malformation-arteriovenous malformation 2 | 1 | May 29, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Jul 21, 2023 |
| Charcot-Marie-Tooth disease axonal type 2V | 1 | Jul 21, 2023 |
| Cystinuria | 1 | May 29, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | May 29, 2024 |
| Developmental and epileptic encephalopathy, 5 | 1 | Mar 17, 2021 |
| Dyggve-Melchior-Clausen syndrome | 1 | May 11, 2021 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | May 29, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 1 | May 30, 2024 |
| Fanconi anemia complementation group A | 1 | May 29, 2024 |
| Greig cephalopolysyndactyly syndrome | 1 | May 29, 2024 |
| Hereditary angioedema type 1 | 2 | Jul 21, 2023 |
| Hereditary spastic paraplegia 3A | 1 | May 29, 2024 |
| Intellectual disability, X-linked 102 | 1 | Mar 9, 2021 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | May 5, 2023 |
| Intellectual disability, autosomal dominant 39 | 1 | Jul 21, 2023 |
| Intellectual disability, autosomal dominant 42 | 2 | May 29, 2024 |
| Intellectual disability, autosomal dominant 51 | 1 | Jul 21, 2023 |
| KBG syndrome | 1 | May 29, 2024 |
| Kleefstra syndrome 1 | 1 | May 29, 2024 |
| Lafora disease | 1 | Mar 11, 2021 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Jul 21, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Mar 24, 2021 |
| Mitochondrial trifunctional protein deficiency 2 | 1 | May 29, 2024 |
| Osteogenesis imperfecta type 7 | 1 | May 29, 2024 |
| Pancreatic cancer, susceptibility to, 2 | 1 | May 25, 2024 |
| Polycystic kidney disease, adult type | 1 | Apr 4, 2021 |
| Progressive myoclonic epilepsy type 7 | 1 | Jul 21, 2023 |
| Pseudohypoparathyroidism type 1C | 1 | May 1, 2021 |
| Pseudohypoparathyroidism type I A | 1 | May 1, 2021 |
| Recessive dystrophic epidermolysis bullosa | 2 | Jul 21, 2023 |
| Seizures, benign familial neonatal, 2 | 1 | Mar 4, 2021 |
| Severe X-linked myotubular myopathy | 1 | May 29, 2024 |
| Spastic ataxia 1 | 1 | Jul 21, 2023 |
| Spinocerebellar ataxia type 42 | 1 | Jul 21, 2023 |
| Spondylocarpotarsal synostosis syndrome | 1 | May 5, 2023 |
| TCF12-related craniosynostosis | 1 | Jul 21, 2023 |
| Tuberous sclerosis 1 | 1 | Mar 19, 2021 |
| Tuberous sclerosis 2 | 1 | May 29, 2024 |
| X-linked Alport syndrome | 1 | Apr 4, 2021 |
