| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-III-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-III-A | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-III-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal circulating carbohydrate concentration +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
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