| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aicardi-Goutieres syndrome 3 +1 more | |
| | KAT5, RNASEH2C (R363Q +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Aicardi Goutieres syndrome +2 more | |
Click to view in NCBI Gene