| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Deletion | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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