| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | DLL3, LOC130064417 (L142Q) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | DLL3, LOC130064417 (C178*) | Single nucleotide variant (nonsense) | Spondylocostal dysostosis 1, autosomal recessive | |
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