| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Microsatellite (inframe_insertion) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (intron variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (splice donor variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Microsatellite (inframe_insertion) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | LOC126860971, POLR3A (M116V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | POLR3A-related neurological disorders +2 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | LOC126860971, POLR3A (R67H) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (intron variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more | |
| | | Deletion (5 prime UTR variant +1 more) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more | |
| | | Duplication (intron variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more | |
| | | Deletion (frameshift variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Indel (frameshift variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | POLR3A, LOC126860971 (D148*) | Duplication (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | GConflicting classifications of pathogenicity |
| | LOC126860970, POLR3A (R1069W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | POLR3A, LOC126860971 (P91L) | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Duplication (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (intron variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Deletion (frameshift variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126860970, POLR3A (A1095T) | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (intron variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |