| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 7 +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 95 | |
Click to view in NCBI Gene