| | | 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 (nonsense +2 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) | 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) | 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 | |
| | | Duplication (frameshift 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 (intron variant) | 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 (intron variant) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Microsatellite (frameshift variant +2 more) | BRAT1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Deletion (frameshift variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (nonsense +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | |
| | | Duplication (inframe_insertion +2 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Deletion (inframe_deletion +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Neonatal-onset encephalopathy with rigidity and seizures +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more | |
| | | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +5 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |