| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Morquio syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | GALNS, LOC130059762
+1 more (W10*) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
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