| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (nonsense +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Deletion (frameshift variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
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