| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129993645, LOC129993646
+419 more | Copy number loss | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | |
| | | Single nucleotide variant (nonsense) | Neutral 1 amino acid transport defect | |
Click to view in NCBI Gene