| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | not specified | |
| | | Copy number gain | Syndromic craniosynostosis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Duplication | Adenylosuccinate lyase deficiency | |
| | | Copy number gain | not provided | |
| | | Duplication | Immunodeficiency, common variable, 4 | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 | |
| | | Copy number gain | not provided | |
| | LOC125446244, LOC130067573 +78 more | Deletion | Immunodeficiency, common variable, 4 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | C22orf15, C22orf23 +435 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 | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | LOC130067848, LOC130067849 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112695092, LOC112695093 +1004 more | Copy number gain | See cases | |
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