| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (nonsense +1 more) | Pyridoxine-dependent epilepsy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Pyridoxine-dependent epilepsy | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Pyridoxine-dependent epilepsy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Pyridoxine-dependent epilepsy +2 more | |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Pyridoxine-dependent epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (nonsense) | See cases +5 more | |
| | | Single nucleotide variant (splice donor variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Pyridoxine-dependent epilepsy | |