| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Spondylocostal dysostosis 1, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | DLL3, LOC130064417
+1 more (P202fs) | Microsatellite (frameshift variant) | not provided +2 more | |
| | DLL3, LOC130064417 (C207*) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene