| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | POLR3A-related disorders +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene