| | | Single nucleotide variant (missense variant) | Shukla-Vernon syndrome | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
| | CELF2, CELF2-AS1 (P279L +21 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 97 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Microsatellite (frameshift variant +1 more) | Neurodevelopmental disorder | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with seizures and brain abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and brain abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 41 | |
| | | Microsatellite (frameshift variant) | Growth delay due to insulin-like growth factor I resistance | |
| | | Single nucleotide variant (missense variant) | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | |
| | | Deletion (frameshift variant) | Van Maldergem syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 43 | |
| | | Duplication (frameshift variant +1 more) | Neurodegeneration with brain iron accumulation 4 | |
| | | Single nucleotide variant (intron variant) | Coxopodopatellar syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Bohring-Opitz syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (inframe_deletion) | Dyskinesia with orofacial involvement, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | Ververi-Brady syndrome +2 more | |
| | | Single nucleotide variant (splice donor variant) | Meckel syndrome, type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Psychotic disorder | |
| | | Single nucleotide variant (nonsense +1 more) | Psychotic disorder | |
| | GPHN, PALS1 (E396G +1 more) | Single nucleotide variant (missense variant) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and brain abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked, syndromic 33 | |
| | | Single nucleotide variant (nonsense) | Periventricular nodular heterotopia 9 | |
| | | Single nucleotide variant (missense variant) | Acrodysostosis 1 with or without hormone resistance | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | |
| | | Single nucleotide variant (missense variant) | Char syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Diarrhea 9 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Landau-Kleffner syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 +3 more | GPathogenic/Likely pathogenic |
| | AIFM1, RAB33A (Q479R +2 more) | Single nucleotide variant (missense variant +2 more) | Severe X-linked mitochondrial encephalomyopathy | |
| | | Deletion (frameshift variant) | Autosomal recessive distal spinal muscular atrophy 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Global brain atrophy +12 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 +13 more | |
| | | Deletion (inframe_deletion) | Meckel syndrome, type 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases +2 more | |