| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | Aicardi-Goutieres syndrome 1 | |
| | | Single nucleotide variant | TREX1-related disorder | |
| | | Single nucleotide variant | TREX1-related disorder | |
| | | Duplication | not provided | |
Click to view in NCBI Gene