| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group B | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group B +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +2 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group B +1 more | |
| | | Single nucleotide variant (intron variant) | VACTERL association, X-linked, with or without hydrocephalus +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group B +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene