| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene