Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Global developmental delay +3 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +3 more | |
| | | Single nucleotide variant (missense variant) | Seizure +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive inheritance | |
Click to view in NCBI Gene