| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Tatton-Brown-Rahman overgrowth syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Heyn-Sproul-Jackson syndrome +1 more | |
| | | Deletion (inframe_deletion +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene