| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SAMHD1, TLDC2 (R611Q +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Aicardi-Goutieres syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 5 +2 more | |
Click to view in NCBI Gene