| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion | Immunodeficiency | |
| | | Duplication | not provided | |
| | | Deletion | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Duplication | Immunodeficiency | |
Click to view in NCBI Gene