| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 6 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aicardi-Goutieres syndrome 6 +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene