| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GALNS, LOC130059762
+1 more | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762
+1 more (D39G) | Single nucleotide variant (5 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
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