| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ATRIP, ATRIP-TREX1 +1 more (R114H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | ATRIP-TREX1, ATRIP +1 more (C208S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +5 more | |
Click to view in NCBI Gene