| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Symmetrical dyschromatosis of extremities +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Aicardi-Goutieres syndrome 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Symmetrical dyschromatosis of extremities +3 more | |
| | | Single nucleotide variant (intron variant) | Symmetrical dyschromatosis of extremities +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Aicardi-Goutieres syndrome 6 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aicardi-Goutieres syndrome 6 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Symmetrical dyschromatosis of extremities +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aicardi-Goutieres syndrome 6 +1 more | |
Click to view in NCBI Gene