| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 1, X-linked | |
| | | Copy number gain | X-linked acrogigantism due to Xq26 microduplication | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 1, X-linked | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Duplication | Heterotaxy, visceral, 1, X-linked | |
| | | Deletion | Heterotaxy, visceral, 1, X-linked | |
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