| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Pancytopenia-developmental delay syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pancytopenia-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
Click to view in NCBI Gene