| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia +3 more | GPathogenic/Likely pathogenic |
| | CYP2U1, CYP2U1-AS1 (G115R) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 56 | |
| | | Deletion (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 56 +1 more | |
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