| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 101 +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive +2 more | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | GRIN1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 8 +3 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive +4 more | |