| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ATRIP, ATRIP-TREX1 +1 more (R114H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +5 more | GConflicting classifications of pathogenicity |
| | ATRIP, ATRIP-TREX1 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +5 more | |
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