| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis type 6 | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis type 6 | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene