| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Symmetrical dyschromatosis of extremities | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ADAR-related disorder +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene