| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | not provided | |
| | | Deletion (frameshift variant) | Moyamoya disease with early-onset achalasia | |
| | | Single nucleotide variant (nonsense) | Moyamoya disease with early-onset achalasia | |
| | | Single nucleotide variant (splice donor variant) | Moyamoya disease with early-onset achalasia | |
Click to view in NCBI Gene