| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +1 more | |
Click to view in NCBI Gene