| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | LOC126862447, GALNS (E278* +2 more) | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC126862447 (A274fs +2 more) | Duplication (frameshift variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Morquio syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Morquio syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Morquio syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Morquio syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Deletion (splice acceptor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | GALNS, LOC130059762
+1 more (L36R) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |