| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | Spondylocostal dysostosis 5 | |
| | | Copy number gain | Delayed speech and language development +8 more | |
| | | Copy number loss | Obesity +2 more | |
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