| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATRIP, ATRIP-TREX1
+1 more (P38fs +1 more) | Deletion (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 | |
| | TREX1, ATRIP
+1 more (S82fs +1 more) | Microsatellite (frameshift variant +2 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +4 more | GPathogenic/Likely pathogenic |
| | ATRIP, ATRIP-TREX1
+1 more (R104L +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 | |
| | ATRIP-TREX1, TREX1
+1 more (V225fs +1 more) | Duplication (frameshift variant +2 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +3 more | |
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