Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +3 more | |
Click to view in NCBI Gene