| | | Deletion (frameshift variant +2 more) | Intellectual disability, autosomal recessive 53 | |
| | | Single nucleotide variant (nonsense) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cognitive impairment with or without cerebellar ataxia +1 more | |
| | | Variation (no sequence alteration) | Osteogenesis imperfecta with normal sclerae, dominant form +3 more | |
| | LOC126807323, TRIO (G2720D) | Single nucleotide variant (missense variant +1 more) | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 56 | |
| | | Single nucleotide variant (missense variant) | Autism, susceptibility to, 20 | |
| | | Single nucleotide variant (missense variant) | Luo-Schoch-Yamamoto syndrome | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1DD | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 56 | |
| | UGT1A, UGT1A1
+8 more (T138fs +4 more) | Deletion (frameshift variant) | Crigler-Najjar syndrome, type II +3 more | |
| | | Single nucleotide variant (intron variant) | Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 11 | |
| | | Microsatellite (splice acceptor variant) | Episodic ataxia type 2 +1 more | |
| | | Deletion | Autosomal recessive osteopetrosis 8 | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
| | | Single nucleotide variant (missense variant) | Neuroocular syndrome | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 1 | |
| | | Duplication | Chromosome Xq28 duplication syndrome | |
| | | Deletion (frameshift variant) | Stickler syndrome, type I, nonsyndromic ocular | |
| | | Deletion | Generalized epilepsy with febrile seizures plus, type 9 | |
| | | Single nucleotide variant (missense variant) | Developmental delay, impaired speech, and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
| | | Deletion (splice acceptor variant) | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | |
| | | Single nucleotide variant (nonsense) | Dystonia 28, childhood-onset | |
| | LOC126862757, TCF4 (P118fs +11 more) | Deletion (frameshift variant) | Pitt-Hopkins syndrome | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with autism and macrocephaly | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Patent ductus arteriosus 2 | |
| | | Deletion (frameshift variant +1 more) | Neuronopathy, distal hereditary motor, autosomal recessive 7 | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 2 | |
| | | Deletion (frameshift variant) | Neuroocular syndrome | |
| | | Single nucleotide variant (nonsense) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (splice donor variant) | Developmental disorder | |
| | | Single nucleotide variant (missense variant) | Snijders Blok-Campeau syndrome | |
| | | Single nucleotide variant (missense variant) | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | |
| | | Single nucleotide variant (splice donor variant) | Autism, susceptibility to, 5 | |
| | | Single nucleotide variant (nonsense) | Growth delay due to insulin-like growth factor I resistance | |
| | | Single nucleotide variant (missense variant) | Familial acute necrotizing encephalopathy | |
| | LOC126860975, ZMIZ1 (N804Y) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 10 | |
| | | Deletion (frameshift variant) | DYRK1A-related intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Snijders Blok-Campeau syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 63 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Developmental disorder | |
| | | Deletion (frameshift variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Choroideremia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Parkinsonian-pyramidal syndrome | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiac valvular dysplasia, X-linked | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Usmani-Riazuddin syndrome, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Lethal multiple pterygium syndrome | |
| | | Microsatellite (frameshift variant) | Autosomal recessive ataxia, Beauce type +1 more | |
| | | Deletion (frameshift variant +1 more) | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | |
| | | Microsatellite (frameshift variant +1 more) | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | |
| | HNRNPH1, LOC128966623 (Q204fs +14 more) | Microsatellite (frameshift variant) | Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | |
| | | Single nucleotide variant (missense variant) | Keratosis palmoplantaris striata 2 | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1S | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (splice donor variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with severe speech and ambulation defects | |
| | | Deletion (frameshift variant) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Pilarowski-Bjornsson syndrome | |
| | | Single nucleotide variant (nonsense) | Coffin-Siris syndrome 6 | |
| | | Single nucleotide variant (missense variant) | Chopra-Amiel-Gordon syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lamb-Shaffer syndrome | |
| | | Single nucleotide variant (intron variant) | Linear skin defects with multiple congenital anomalies 1 | |
| | | Single nucleotide variant (missense variant) | Central core myopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant) | Beck-Fahrner syndrome | |
| | | Deletion (frameshift variant) | Aniridia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (splice donor variant) | Chopra-Amiel-Gordon syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome | |
| | | Duplication (frameshift variant) | Intellectual disability, X-linked 99, syndromic, female-restricted | |
| | | Indel (splice donor variant) | Intellectual disability, autosomal dominant 39 | |
| | | Indel (frameshift variant) | Brugada syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Dystonia 28, childhood-onset | |
| | | Microsatellite (frameshift variant) | 8q24.3 microdeletion syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 | |