| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (stop lost) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Aicardi Goutieres syndrome +3 more | GConflicting classifications of pathogenicity |
| | LOC130006061, RNASEH2C (G45R) | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 3 | |
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