| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | not provided | |
| | | Deletion | Mucolipidosis type IV | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADGRE1, LOC129391044 +11 more | Copy number gain | See cases | |
| | ADGRE1, LOC129391044 +11 more | Copy number gain | See cases | |
| | LOC129391044, LOC129391045 +8 more | Copy number gain | See cases | |
| | ADGRE1, LOC129391044 +11 more | Copy number gain | See cases | |
| | ADGRE1, LOC129391044 +12 more | Copy number gain | See cases | |
| | LOC130063246, LOC130063247 +810 more | Copy number gain | See cases | |
Click to view in NCBI Gene