| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Leukodystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | POLR3A-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Neonatal pseudo-hydrocephalic progeroid syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | POLR3A-related disorders +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Pol III-related leukodystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (nonsense) | Pol III-related leukodystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | LOC126860971, POLR3A (K123del) | Microsatellite (inframe_deletion) | not provided +1 more | |
| | LOC126860971, POLR3A (R67H) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal pseudo-hydrocephalic progeroid syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Hypogonadotropic hypogonadism 7 with or without anosmia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +9 more | GPathogenic/Likely pathogenic |