| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Aicardi-Goutieres syndrome 7 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Singleton-Merten syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 95 +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +1 more | |
| | | Deletion (frameshift variant) | Singleton-Merten syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +1 more | |
Click to view in NCBI Gene