| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 89 | |
| | | Microsatellite (nonsense) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (genic upstream transcript variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (genic upstream transcript variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (genic upstream transcript variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
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