| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FANCA, LOC130059837 (V888I) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | FANCA, LOC130059837 (Q869P) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene