| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GALNS, LOC126862447 (M494T +2 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC126862447 (H290N +2 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | |
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