| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FUCA1, LOC126805661 (G141V) | Single nucleotide variant (missense variant) | Fucosidosis +1 more | GConflicting classifications of pathogenicity |
| | FUCA1, LOC126805661 (T135K) | Single nucleotide variant (missense variant) | Fucosidosis | |
Click to view in NCBI Gene