| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 6 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dyskeratosis congenita, autosomal recessive 6 +1 more | |
| | | Duplication (frameshift variant +1 more) | Dyskeratosis congenita | |
Click to view in NCBI Gene