| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | SELENOH, TMX2-CTNND1 (G5W) | Single nucleotide variant (missense variant) | not specified | |
| | SELENOH, TMX2-CTNND1 (T42P) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Intellectual disability | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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