Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Intellectual disability | |
| | P2RY12, MED12L (M1459I +1 more) | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Nizon-Isidor syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
Click to view in NCBI Gene