| | | Deletion | Fucosidosis | |
| | | Deletion | Fucosidosis | |
| | | Deletion (frameshift variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (N154fs) | Deletion (frameshift variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Fucosidosis | |
| | | Deletion (non-coding transcript variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | FUCA1, LOC126805661 (N144D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fucosidosis | |
| | FUCA1, LOC126805661 (W153*) | Single nucleotide variant (nonsense +1 more) | Fucosidosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Fucosidosis | |
| | FUCA1, LOC126805661 (P146R) | Single nucleotide variant (missense variant +1 more) | Fucosidosis | |
| | FUCA1, LOC129929685 (A129S) | Single nucleotide variant (missense variant +1 more) | Fucosidosis | |
| | FUCA1, LOC126805661 (L134V) | Single nucleotide variant (missense variant +1 more) | Fucosidosis | |
| | FUCA1, LOC126805661 (G141A) | Single nucleotide variant (missense variant +1 more) | Fucosidosis +1 more | |
| | LOC126805661, FUCA1 (T135M) | Single nucleotide variant (missense variant +1 more) | Fucosidosis | |
| | FUCA1, LOC126805661 (R162Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant) | Fucosidosis +1 more | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | FUCA1, LOC129929685 (A126V) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC129929685 (K130E) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (R162W) | Single nucleotide variant (missense variant) | Fucosidosis +1 more | |
| | FUCA1, LOC126805661 (R173W) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | FUCA1, LOC126805661 (R173Q) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (T135R) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (V133L) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (V149L) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | | Deletion (intron variant) | Fucosidosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FUCA1, LOC126805661 (L164F) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Fucosidosis | |
| | | Deletion (frameshift variant) | Fucosidosis | |
| | | Deletion (frameshift variant) | Fucosidosis | |
| | | Single nucleotide variant (missense variant) | Fucosidosis | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (V158M) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | | Single nucleotide variant (synonymous variant) | Fucosidosis | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fucosidosis | GConflicting classifications of pathogenicity |
| | FUCA1, LOC126805661 (E140D) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (T135K) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (K174N) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FUCA1, LOC126805661 (G141V) | Single nucleotide variant (missense variant) | Fucosidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | FUCA1, LOC126805661 (W145R) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | FUCA1, LOC126805661 (P146L) | Single nucleotide variant (missense variant) | FUCA1-related disorder +2 more | |
| | FUCA1, LOC126805661 (L134F) | Single nucleotide variant (missense variant) | FUCA1-related disorder +3 more | |
| | FUCA1, LOC126805661 (Y131*) | Single nucleotide variant (nonsense) | Fucosidosis +1 more | |
| | LOC126805661, FUCA1 (S155F) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | FUCA1, LOC126805661 (P146fs) | Deletion (frameshift variant +1 more) | Fucosidosis | |
| | | Deletion | Fucosidosis | |