Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATRIP, ATRIP-TREX1
+1 more (D268fs +1 more) | Duplication (non-coding transcript variant +2 more) | Thrombotic microangiopathy | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (splice acceptor variant) | Thrombotic microangiopathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Thrombotic microangiopathy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Thrombotic microangiopathy +7 more | |
Click to view in NCBI Gene