| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | C17orf47, CCDC182 +168 more | Copy number loss | See cases | |
| | | Deletion | Neurodevelopmental delay +1 more | |
| | | Deletion | Neurodevelopmental delay +1 more | |
| | | Copy number loss | See cases | |
| | | Duplication | Familial aplasia of the vermis +1 more | |
| | TNFSF12, TNFSF12-TNFSF13 +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
Click to view in NCBI Gene