| | | Single nucleotide variant (splice donor variant) | Autism spectrum disorder due to AUTS2 deficiency | |
| | | Deletion (splice donor variant) | Retinitis pigmentosa 2 | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, X-linked 30 | |
| | | Single nucleotide variant (missense variant +1 more) | Seizure +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | POLR2A, LOC126862481 (I848T) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Zimmermann-Laband syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Insertion (frameshift variant) | Pitt-Hopkins syndrome | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with involuntary movements | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 99 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Combined immunodeficiency due to STK4 deficiency | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Landau-Kleffner syndrome | |
| | | Deletion (frameshift variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 51 | |
| | | Single nucleotide variant (intron variant) | Classic dopamine transporter deficiency syndrome | |
| | | Indel (nonsense) | Classic dopamine transporter deficiency syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 14 | |
| | | Single nucleotide variant (nonsense) | Schaaf-Yang syndrome | |
| | | Single nucleotide variant (splice donor variant) | Neuronopathy, distal hereditary motor, type 7B | |
| | | Single nucleotide variant (missense variant +1 more) | Rett syndrome | |
| | IGF2, INS-IGF2 (E137fs +1 more) | Microsatellite (frameshift variant +1 more) | Silver-Russell syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Obesity +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 12 +1 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant +1 more) | DYRK1A-related intellectual disability syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 1 | |
| | | Single nucleotide variant (splice donor variant) | Tourette syndrome | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental delay | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 43 | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder, autosomal dominant 64 | |
| | | Single nucleotide variant (intron variant) | Renal carnitine transport defect | |
| | | Single nucleotide variant (missense variant) | Renal carnitine transport defect | |
| | | Deletion (frameshift variant +1 more) | Feingold syndrome type 1 | |
| | KCNN2, LOC101927078 (V100fs +2 more) | Duplication (frameshift variant +1 more) | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay | |
| | | Single nucleotide variant (splice acceptor variant) | Macrocephaly, acquired, with impaired intellectual development | |
| | | Deletion (frameshift variant) | Bohring-Opitz syndrome | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder, autosomal dominant 68 | |
| | | Single nucleotide variant (splice acceptor variant) | DYRK1A-related intellectual disability syndrome | |
| | | Indel (missense variant +1 more) | Intellectual disability, autosomal recessive 5 | |
| | | Single nucleotide variant (missense variant) | Autism, susceptibility to, X-linked 4 +1 more | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lissencephaly 9 with complex brainstem malformation | |
| | | Single nucleotide variant (nonsense) | Basilicata-Akhtar syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental delay | |
| | | Deletion | Severe postnatal growth retardation | |
| | | Single nucleotide variant (nonsense) | Autism +1 more | |
| | | Single nucleotide variant (missense variant) | Malan overgrowth syndrome | |
| | | Single nucleotide variant (missense variant) | FG syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | DPAGT1, LOC126861360 (G63S) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Seizure | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 33 | |
| | | Single nucleotide variant (nonsense) | Weiss-Kruszka syndrome | |
| | | Deletion (frameshift variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, severe | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, severe | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, progressive, infantile-onset, with or without deafness | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 | |
| | CTNNB1, LOC126806659 (V444fs +1 more) | Duplication (frameshift variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Deletion (frameshift variant) | Autism | |
| | | Single nucleotide variant (missense variant) | Cognitive impairment with or without cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | MEGF8-related Carpenter syndrome | |
| | | Single nucleotide variant (nonsense) | Van Maldergem syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | KMT2A, TTC36-AS1 (R3705P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Wiedemann-Steiner syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Heterotaxy, visceral, 5, autosomal | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Genitopatellar syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CTB-99A3.1, PPP2R2B (I407T +6 more) | Single nucleotide variant (missense variant +1 more) | Global developmental delay | |
| | | Single nucleotide variant (nonsense) | Mandibulofacial dysostosis-microcephaly syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | KARS1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to TUBA1A mutation +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Deletion (inframe_deletion) | HCN2 related developmental and epileptic encephalopathy +2 more | GConflicting classifications of pathogenicity |
| | HUWE1, LOC126863263 (A1238T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, severe +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +3 more | |
| | | Microsatellite (splice donor variant) | Developmental and epileptic encephalopathy, 28 +3 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental, jaw, eye, and digital syndrome | |
| | POLR3B, LOC100287944 (R1046H +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, demyelinating, IIA 1I +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more | GConflicting classifications of pathogenicity |