| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis type 7 +2 more | |
| | GUSB, LOC126860055 (G512R +3 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Microsatellite (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 7 +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Mucopolysaccharidosis type 7 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 7 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene