| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Aicardi Goutieres syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 4 | |
| | | Deletion (frameshift variant) | Aicardi-Goutieres syndrome 4 | |
| | | Single nucleotide variant (missense variant) | RNASEH2A-related condition +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene