| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Syndromic craniosynostosis | |
| | | Duplication | Adenylosuccinate lyase deficiency | |
| | | Duplication | Immunodeficiency, common variable, 4 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Immunodeficiency, common variable, 4 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ZNF280A, ZNF280B +438 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067597, LOC130067598 +91 more | Copy number loss | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | LOC130067596, LOC130067597 +687 more | Copy number gain | See cases | |
| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067651, LOC130067652 +1004 more | Copy number gain | See cases | |
Click to view in NCBI Gene