| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Fucosidosis +2 more | |
| | | Single nucleotide variant (missense variant) | Fucosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fucosidosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | FUCA1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Fucosidosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | FUCA1-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | FUCA1-related disorder +1 more | |
| | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | FUCA1-related disorder | |
| | | Single nucleotide variant (missense variant) | Fucosidosis +2 more | |
Click to view in NCBI Gene