| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FUCA1, LOC126805661 (P146L) | Single nucleotide variant (missense variant) | Fucosidosis +2 more | |
| | LOC126805661, FUCA1 (W145R) | Single nucleotide variant (missense variant) | FUCA1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | FUCA1, LOC126805661 (L134F) | Single nucleotide variant (missense variant) | Fucosidosis +3 more | |
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