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