| | | Deletion | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Deletion | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Deletion | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | 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 | |