| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058195, LOC130058196 +556 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058340, LOC130058341 +925 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC125146386, LOC125146387 +40 more | Deletion | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125146383, LOC125146384 +66 more | Deletion | Rubinstein-Taybi syndrome | |
| | | Copy number loss | See cases | |
| | | Deletion | Low-set ears +5 more | |
Click to view in NCBI Gene