| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mucolipidosis type II +1 more | |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-III-A +1 more | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A +3 more | |
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