| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Fanconi-Bickel syndrome | |
| | | Duplication | Dyskeratosis congenita, autosomal dominant 1 | |
Click to view in NCBI Gene