| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Spondylocostal dysostosis 1, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | DLL3, LOC130064417 (G201fs) | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DLL3, LOC130064417 (C207fs) | Deletion (frameshift variant) | DLL3-Related Disorders +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene