| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATRIP, ATRIP-TREX1
+1 more (I172fs +1 more) | Duplication (non-coding transcript variant +2 more) | not provided +1 more | |
| | ATRIP, ATRIP-TREX1
+1 more (A223T +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | ATRIP, ATRIP-TREX1
+1 more | Deletion (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene