| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Symmetrical dyschromatosis of extremities +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Aicardi-Goutieres syndrome 6 | |
| | | Single nucleotide variant (missense variant +3 more) | Aicardi-Goutieres syndrome 6 +1 more | |
Click to view in NCBI Gene