| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EDDM3B, EFCAB11 +3282 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | L2HGDH, LINC01588 +30 more | Deletion | L-2-hydroxyglutaric aciduria | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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