| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 4 | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 4 +1 more | |
| | | Copy number gain | Chromosome 17P13.3, telomeric, duplication syndrome | |
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