| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 1 | Aug 15, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Aug 11, 2025 |
| Autoinflammation, immune dysregulation, and eosinophilia | 1 | Aug 5, 2024 |
| Autosomal dominant Alport syndrome | 3 | Sep 5, 2024 |
| Autosomal recessive cutis laxa type 2D | 1 | Nov 8, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Nov 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 | Aug 15, 2024 |
| BAP1-related tumor predisposition syndrome | 1 | Jan 31, 2024 |
| Basal cell carcinoma, susceptibility to, 1 | 1 | Nov 6, 2023 |
| Basal cell nevus syndrome 1 | 1 | Sep 20, 2024 |
| Benign recurrent intrahepatic cholestasis type 2 | 2 | Apr 25, 2024 |
| Beta-thalassemia HBB/LCRB | 1 | Nov 7, 2023 |
| Body mass index quantitative trait locus 12 | 1 | Nov 17, 2023 |
| Brain malformations with or without urinary tract defects | 1 | Sep 5, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 4 | Sep 5, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 5 | Aug 22, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | Aug 16, 2024 |
| Bronchiectasis with or without elevated sweat chloride 1 | 2 | Nov 7, 2023 |
| Brooke-Spiegler syndrome | 1 | Mar 27, 2024 |
| CHARGE syndrome | 1 | Nov 13, 2023 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Apr 9, 2024 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Aug 22, 2024 |
| Cerebral cavernous malformation | 1 | Sep 5, 2024 |
| Cerebrooculofacioskeletal syndrome 4 | 1 | Aug 22, 2024 |
| Charcot-Marie-Tooth disease type 4C | 1 | May 3, 2023 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Aug 14, 2024 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Nov 6, 2023 |
| Colorectal cancer | 1 | Jan 8, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 2 | Aug 16, 2024 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 | Nov 7, 2023 |
| Congenital myotonia, autosomal dominant form | 1 | Aug 24, 2025 |
| Cystic fibrosis | 2 | Nov 7, 2023 |
| Cystinuria | 1 | Aug 20, 2024 |
| Developmental and epileptic encephalopathy 93 | 1 | Nov 8, 2023 |
| Developmental delay with or without epilepsy | 1 | Aug 14, 2024 |
| Diabetes insipidus, nephrogenic, autosomal | 1 | Aug 11, 2025 |
| Diabetes mellitus, permanent neonatal 3 | 1 | Nov 16, 2023 |
| Dominant beta-thalassemia | 1 | Nov 7, 2023 |
| Ehlers-Danlos syndrome, type 4 | 1 | Aug 15, 2024 |
| Elliptocytosis 2 | 1 | Nov 13, 2023 |
| Endometrial carcinoma | 1 | Nov 14, 2023 |
| Erythrocytosis, familial, 6 | 1 | Nov 7, 2023 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Aug 16, 2024 |
| Familial adenomatous polyposis 1 | 1 | Jan 8, 2024 |
| Familial adenomatous polyposis 2 | 1 | Apr 11, 2024 |
| Familial amyloid nephropathy with urticaria AND deafness | 1 | Nov 6, 2023 |
| Familial cancer of breast | 5 | Aug 22, 2024 |
| Familial cold autoinflammatory syndrome 1 | 1 | Nov 6, 2023 |
| Familial cylindromatosis | 1 | Mar 27, 2024 |
| Familial dysfibrinogenemia | 1 | Aug 14, 2024 |
| Familial medullary thyroid carcinoma | 1 | Jan 26, 2024 |
| Fanconi anemia complementation group A | 2 | Aug 27, 2024 |
| Fanconi anemia complementation group D1 | 1 | Nov 13, 2023 |
| Fanconi anemia, complementation group S | 2 | Nov 16, 2023 |
| Galloway-Mowat syndrome 4 | 1 | Aug 22, 2024 |
| Gastric cancer | 1 | Apr 11, 2024 |
| Glioma susceptibility 3 | 1 | Nov 13, 2023 |
| Glycogen storage disease IXa1 | 1 | Aug 15, 2024 |
| Gonadotropin-independent familial sexual precocity | 1 | Nov 14, 2025 |
| Gorlin syndrome | 1 | Nov 6, 2023 |
| Greig cephalopolysyndactyly syndrome | 1 | Apr 2, 2024 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Aug 25, 2025 |
| Hb SS disease | 1 | Nov 7, 2023 |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 | Nov 6, 2023 |
| Heinz body anemia | 1 | Nov 7, 2023 |
| Hereditary pancreatitis | 2 | Nov 7, 2023 |
| Hereditary persistence of fetal hemoglobin | 1 | Nov 7, 2023 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Jan 26, 2024 |
| Holoprosencephaly 7 | 1 | Nov 6, 2023 |
| Hypercholanemia, familial, 2 | 2 | Nov 7, 2023 |
| Hypercholesterolemia, familial, 1 | 1 | Sep 5, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 2 | Jan 8, 2026 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 1 | Jul 3, 2023 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Nov 13, 2023 |
| Hypokalemic periodic paralysis, type 2 | 1 | Aug 11, 2025 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 | Sep 8, 2023 |
| Intellectual disability, X-linked 102 | 1 | Jul 7, 2025 |
| Intellectual disability, autosomal dominant 6 | 1 | Nov 16, 2023 |
| Intellectual disability, autosomal recessive 13 | 1 | Nov 16, 2023 |
| KBG syndrome | 1 | Nov 16, 2023 |
| Keratitis fugax hereditaria | 1 | Nov 6, 2023 |
| Kury-Isidor syndrome | 1 | Jan 31, 2024 |
| LZTR1-related schwannomatosis | 1 | Oct 29, 2025 |
| Larsen syndrome | 1 | Apr 3, 2024 |
| Leucine-induced hypoglycemia | 1 | Nov 16, 2023 |
| Li-Fraumeni syndrome 1 | 3 | Aug 16, 2024 |
| Long QT syndrome 2 | 1 | Aug 20, 2024 |
| Lynch syndrome 5 | 1 | Nov 14, 2023 |
| METHEMOGLOBINEMIA, BETA TYPE | 1 | Nov 7, 2023 |
| MUTYH-related Breast Cancer | 1 | Aug 30, 2024 |
| Malaria, susceptibility to | 1 | Nov 7, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Aug 14, 2024 |
| Marfan syndrome | 1 | Apr 3, 2024 |
| Maturity-onset diabetes of the young type 3 | 1 | Jan 12, 2026 |
| Medulloblastoma | 1 | Nov 13, 2023 |
| Melanoma, uveal, susceptibility to, 2 | 1 | Jan 31, 2024 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Nov 7, 2023 |
| Mitochondrial DNA depletion syndrome 4b | 1 | Jan 31, 2024 |
| Mucopolysaccharidosis, MPS-IV-A | 3 | Aug 16, 2024 |
| Nephronophthisis 3 | 1 | Oct 13, 2025 |
| Netherton syndrome | 1 | Oct 22, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | 1 | Aug 11, 2025 |
| Neurofibromatosis, type 1 | 1 | Aug 14, 2024 |
| Obesity due to prohormone convertase I deficiency | 1 | Nov 17, 2023 |
| Oculofaciocardiodental syndrome | 1 | Aug 11, 2025 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 16, 2023 |
| Ovarian dysgenesis 9 | 1 | Oct 28, 2025 |
| Pallister-Hall syndrome | 1 | Apr 2, 2024 |
| Pancreatic cancer, susceptibility to, 2 | 1 | Nov 13, 2023 |
| Pancreatic cancer, susceptibility to, 4 | 2 | Nov 16, 2023 |
| Pheochromocytoma/paraganglioma syndrome 5 | 1 | Aug 22, 2024 |
| Pigmentary pallidal degeneration | 1 | Sep 8, 2023 |
| Pleuropulmonary blastoma | 1 | Sep 5, 2024 |
| Polydactyly, postaxial, type A1 | 1 | Apr 2, 2024 |
| Polysyndactyly 4 | 1 | Apr 2, 2024 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Aug 11, 2025 |
| Premature ovarian failure 10 | 1 | Nov 7, 2023 |
| Premature ovarian failure 3 | 1 | Nov 13, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Jan 31, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | Jan 31, 2024 |
| Progressive familial intrahepatic cholestasis type 2 | 2 | Apr 25, 2024 |
| Progressive sclerosing poliodystrophy | 1 | Jan 31, 2024 |
| Prostate cancer | 1 | Nov 13, 2023 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | 1 | Aug 24, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 | Aug 5, 2024 |
| Pulmonary hypertension, primary, 1 | 1 | Nov 6, 2023 |
| Pulmonary venoocclusive disease 1 | 1 | Nov 6, 2023 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 1 | Aug 27, 2024 |
| Retinitis pigmentosa 19 | 2 | Aug 15, 2024 |
| Retinitis pigmentosa 77 | 1 | Aug 14, 2024 |
| Rhabdomyosarcoma, embryonal, 2 | 1 | Sep 5, 2024 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Aug 11, 2025 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | Jan 31, 2024 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Aug 11, 2025 |
| Spondylo-ocular syndrome | 1 | Sep 16, 2024 |
| Spondyloepiphyseal dysplasia, Kimberley type | 1 | Aug 25, 2025 |
| Stiff skin syndrome | 1 | Apr 2, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Aug 27, 2024 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Apr 9, 2024 |
| Trichoepithelioma, multiple familial, 1 | 1 | Mar 27, 2024 |
| Tumor predisposition syndrome 3 | 1 | Aug 24, 2025 |
| Type 2 diabetes mellitus | 1 | Nov 16, 2023 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Sep 5, 2024 |
| Waardenburg syndrome type 2A | 1 | Aug 20, 2024 |
| Wiedemann-Steiner syndrome | 1 | Oct 29, 2025 |
| Wilms tumor 1 | 3 | Nov 13, 2023 |
| Wilson disease | 1 | Aug 22, 2024 |
| Wolfram-like syndrome | 1 | Nov 14, 2025 |
| X-linked Alport syndrome | 1 | Aug 20, 2024 |
| alpha Thalassemia | 1 | Sep 5, 2024 |
| von Willebrand disease type 1 | 1 | Nov 16, 2023 |
| von Willebrand disease type 2 | 1 | Nov 16, 2023 |
| von Willebrand disease type 3 | 1 | Nov 16, 2023 |
