| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GALNS, LOC130059762
+1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762
+1 more | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762
+1 more (D40Y) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762
+1 more (L36P) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762
+1 more (W11R) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
Click to view in NCBI Gene