| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Fanconi anemia | |
| | | Deletion (frameshift variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia | |
| | | Single nucleotide variant (nonsense) | not provided | |
Click to view in NCBI Gene