| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Duplication (frameshift variant) | O'Donnell-Luria-Rodan syndrome | |
| | | Single nucleotide variant (missense variant) | O'Donnell-Luria-Rodan syndrome | |
| | | Single nucleotide variant (missense variant) | O'Donnell-Luria-Rodan syndrome | |
Click to view in NCBI Gene