Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Macrocephaly +6 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Autism +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Genitopatellar syndrome +6 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
Click to view in NCBI Gene