| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129996517, POLR1C (R11Q) | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 11 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene