| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Deletion (frameshift variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +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) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Duplication (frameshift variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Deletion (inframe_deletion +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous 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 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal-onset encephalopathy with rigidity and seizures +1 more | |