| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group O +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary breast ovarian cancer syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi anemia complementation group O +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene