| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Non-ketotic hyperglycinemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Magenis Syndrome-like | |
| | | Single nucleotide variant (missense variant) | Smith-Magenis Syndrome-like +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene