| | MED12L, P2RY12 (E1263* +1 more) | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | 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) | Inborn genetic diseases +2 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) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Seizures, benign familial infantile, 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Rare syndromic intellectual disability +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) | Inborn genetic diseases +3 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) | Hogue-Janssens syndrome 1 +6 more | |
| | | Single nucleotide variant (splice acceptor variant) | PTEN hamartoma tumor syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |