| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia, autosomal recessive 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (missense variant) | Gingival fibromatosis-hypertrichosis syndrome | |
| | IDS, LOC106050102 (L118* +1 more) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (nonsense) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | LOC108281160, MASP1 (N25Y) | Single nucleotide variant (missense variant) | 3MC syndrome 1 | |
| | IDS, LOC106050102 (W255C +1 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary fructosuria | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Morquio syndrome +1 more | GConflicting classifications of pathogenicity |
| | GALNS, LOC130059762
+1 more (L36P) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tip-toe gait +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Morquio syndrome +1 more | GPathogenic/Likely pathogenic |