| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |
| | CDK5RAP3, LOC109286563 +26 more | Copy number loss | See cases | |
| | | Single nucleotide variant | Pyridoxal phosphate-responsive seizures | |
Click to view in NCBI Gene