| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | FANCE-related disorder | |
| | FANCE, LOC129996245 (W19*) | Single nucleotide variant (nonsense) | FANCE-related disorder | |
| | FANCE, LOC129996245 (A35V) | Single nucleotide variant (missense variant) | Fanconi anemia complementation group E +1 more | GConflicting classifications of pathogenicity |
| | FANCE, LOC129996245 (P77T) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | FANCE-related disorder +1 more | |
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