| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +2 more | GPathogenic/Likely pathogenic |
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