| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | LOC129389795, LOC129389796 +636 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | SNORA5A, SNORA5B +212 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860033, LOC126860034 +426 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC113748397, LOC113748398 +200 more | Copy number loss | See cases | |
| | LOC129998399, LOC129998400 +27 more | Indel | Cerebral cavernous malformation 2 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | Intracranial hemorrhage | |
| | | Copy number loss | Neurodevelopmental delay +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | | Copy number loss | See cases | |
| | | Inversion | Childhood apraxia of speech | |
Click to view in NCBI Gene