| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Fanconi anemia complementation group Q +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene