| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (5 prime UTR variant +1 more) | Rare genetic intellectual disability | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant) | Glutamate pyruvate transaminase 2 deficiency | |
Click to view in NCBI Gene