| 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 | |
| | ATRIP, ATRIP-TREX1
+1 more (S82fs +1 more) | Microsatellite (non-coding transcript variant +2 more) | TREX1-related condition +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, ATRIP-TREX1
+1 more (V225fs +1 more) | Duplication (non-coding transcript variant +2 more) | Chilblain lupus 1 +3 more | |
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