| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | CMIP-related neurodevelopmental disorder | |
| | LOC110120569, LOC110120570 +47 more | Deletion | Cataract 21 multiple types +1 more | |
| | | Copy number gain | See cases | |
| | LOC130059466, LOC130059467 +1738 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 | |
| | LOC400553, LOC654780 +832 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC128772417, LOC128772418 +939 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC100129617, LOC100506281 +591 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01081, LINC01082 +781 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059153, LOC130059154 +1426 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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