| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Deletion (intron variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nijmegen breakage syndrome-like disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene