| | LOC129994826, PURA (D131E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 | |
| | | Deletion (inframe_deletion) | 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 | |
| | 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 | |
| | | 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 | |
| | | 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 | |
| | LOC129994826, PURA (S127fs) | Duplication (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (S127R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (P139L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129994826, PURA (L143fs) | Microsatellite (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (D137H) | Single nucleotide variant (missense variant) | not specified | |
| | | 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 | |
| | LOC129994826, PURA (P130fs) | Duplication (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (P130fs) | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (E146K) | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Copy number loss | not provided | |
| | LOC129994826, PURA (Q136*) | Single nucleotide variant (nonsense) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (P130fs) | Microsatellite (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (P129S) | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | PURA Syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (Q136fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 | |
| | | 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 | |
| | LOC129994826, PURA (A142fs) | Duplication (frameshift variant) | PURA Syndrome | |
| | LOC129994826, PURA (K144E) | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more | |
| | LOC129994826, PURA (L132V) | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (A142fs) | Duplication (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | LOC129994826, PURA (Q128fs) | Duplication (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (L143V) | 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) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | LOC129994826, PURA (K144N) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129994826, PURA (S127fs) | Duplication (frameshift variant) | not provided | |
| | LOC129994826, PURA (R140P) | Single nucleotide variant (missense variant) | not provided +1 more | |