| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | LOC111674474, LOC111674475 +2212 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC113219472, LOC113633876 +131 more | Copy number loss | Autism spectrum disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LOC111674478, LOC113219433 +42 more | Copy number gain | Anomalous pulmonary venous return | |
| | LOC129999373, LOC129999374 +492 more | Copy number loss | See cases | |
| | CFTR, LOC113664106 +1 more | Deletion | Cystic fibrosis | |
| | CFTR, LOC113664106 +1 more | Deletion | Cystic fibrosis | |
Click to view in NCBI Gene