| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DLL3, LOC130064417
+1 more (P202fs) | Microsatellite (frameshift variant) | Leukodystrophy and acquired microcephaly with or without dystonia; +2 more | |
| | DLL3, LOC130064417 (C207fs) | Deletion (frameshift variant) | DLL3-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Spondylocostal dysostosis 1, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Spondylocostal dysostosis 1, autosomal recessive +1 more | GPathogenic/Likely pathogenic |
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