| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Aicardi Goutieres syndrome +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene