| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KAT5, RNASEH2C (S413A +3 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Aicardi Goutieres syndrome +3 more | GConflicting classifications of pathogenicity |
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