| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Non-ketotic hyperglycinemia | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant) | Non-ketotic hyperglycinemia | |
Click to view in NCBI Gene