Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATRIP, ATRIP-TREX1
+1 more (A129fs +1 more) | Deletion (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 +3 more | |
| | ATRIP, ATRIP-TREX1
+1 more (Y305C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | TREX1-related disorder +5 more | |
| | ATRIP-TREX1, ATRIP
+1 more (C208S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +5 more | |
| | ATRIP, ATRIP-TREX1
+1 more (E266G +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | 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 |
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