| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 55 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 55 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
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