| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129993982, LOC129993983
+265 more | Copy number loss | Intellectual disability | |
| | | Deletion (frameshift variant) | Periventricular nodular heterotopia 9 +4 more | |
| | | Single nucleotide variant (nonsense) | Periventricular nodular heterotopia 9 +5 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene