| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FANCE, LOC129996245 (P18S) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | FANCE, LOC129996245 (A32T) | Single nucleotide variant (missense variant) | not specified | |
| | FANCE, LOC129996245 (P77T) | Single nucleotide variant (missense variant) | not provided +3 more | |
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