| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Cerebroretinal microangiopathy with calcifications and cysts 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +1 more | |
Click to view in NCBI Gene