| | | Single nucleotide variant (nonsense) | not provided | |
| | LOC129994826, PURA (D131E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (P130R) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe deletion) | PURA-related disorder | |
| | | Microsatellite (frameshift variant) | PURA-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Microsatellite (inframe_insertion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Duplication (inframe_insertion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (nonsense) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Duplication (inframe_insertion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Indel | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (S145fs) | Duplication (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (nonsense) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Duplication (inframe_insertion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Duplication (inframe_insertion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (A142E) | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Duplication (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | PURA-related disorder | |
| | | Single nucleotide variant (missense variant) | PURA-related disorder | |
| | | Deletion (frameshift variant) | PURA-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant +1 more) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (nonsense) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | ANKHD1, ANKHD1-EIF4EBP3 +53 more | Duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (nonsense) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Microsatellite (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Microsatellite (inframe_insertion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |