| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | POLR3-related leukodystrophy +9 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
Click to view in NCBI Gene