| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Nizon-Isidor syndrome | |
| | P2RY12, MED12L (S955P +1 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder | |
| | | Indel (nonsense) | Nizon-Isidor syndrome | |
| | | Copy number gain | Brachycephaly +2 more | |
Click to view in NCBI Gene