| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Pol III-related leukodystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene