| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | DiGeorge syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant +1 more) | Tetralogy of Fallot +3 more | |
Click to view in NCBI Gene