| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Symmetrical dyschromatosis of extremities +3 more | |
| | | Single nucleotide variant (intron variant) | Symmetrical dyschromatosis of extremities +2 more | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Symmetrical dyschromatosis of extremities +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ADAR-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Symmetrical dyschromatosis of extremities +3 more | |
| | | Single nucleotide variant (intron variant) | Symmetrical dyschromatosis of extremities +3 more | |
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