| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PCDHA1, PCDHA10
+9 more (M1fs) | Deletion (intron variant +3 more) | Thrombocytosis | |
| | | Copy number loss | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
Click to view in NCBI Gene