| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (missense variant) | Short rib-polydactyly syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fetal growth restriction +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +2 more | |
| | | | Asphyxiating thoracic dystrophy 3 | |
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