| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126860971, POLR3A (R140*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene