Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Paroxysmal dyskinesia +1 more | |
| | | Deletion | Paroxysmal dyskinesia | |
| | | Single nucleotide variant (missense variant) | Choreoathetosis +4 more | |
| | LOC125467768, PCDH19 (R740C +1 more) | Single nucleotide variant (missense variant) | Choreoathetosis +5 more | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene