| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Aicardi-Goutieres syndrome 6 | |
| | | Single nucleotide variant (splice donor variant) | Aicardi-Goutieres syndrome 6 | |
| | | Single nucleotide variant (splice acceptor variant) | Aicardi-Goutieres syndrome 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aicardi-Goutieres syndrome 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ADAR-related condition +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene