| | | Deletion (frameshift variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Snijders Blok-Campeau syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with autism and macrocephaly | |
| | | Single nucleotide variant (nonsense) | DeSanto-Shinawi syndrome due to WAC point mutation +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | TRIO-related disorder +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Seizures, benign familial infantile, 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | See cases +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 30 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | MEA1, PPP2R5D (E198K +3 more) | Single nucleotide variant (missense variant) | Intellectual disability +6 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |