| | | Single nucleotide variant (missense variant) | CEBALID syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Deletion (frameshift variant) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability | |
| | | Single nucleotide variant (intron variant) | Roifman syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep abnormality +6 more | |
| | | Duplication (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation +2 more | |
| | | Single nucleotide variant (nonsense) | Epileptic encephalopathy +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Indel (frameshift variant) | Neurodevelopmental disorder with absent language and variable seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Cohen syndrome | |
| | | Duplication (frameshift variant) | Myopia +7 more | |
| | | Deletion (frameshift variant) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Joubert syndrome 23 +3 more | |
| | | Duplication (frameshift variant) | See cases +3 more | |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Intellectual disability | |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Abnormal cerebral white matter morphology +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autism, susceptibility to, X-linked 3 +15 more | GPathogenic/Likely pathogenic |