| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia 83, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Duplication (nonsense) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | HPDL, LOC129930440 (G319fs) | Duplication (frameshift variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
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