| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | GRIN1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 8 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 8 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 | |
| | | Single nucleotide variant (missense variant) | Seizure +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +2 more | |
| | | Single nucleotide variant (stop lost +1 more) | Intellectual disability, autosomal dominant 8 | |
Click to view in NCBI Gene