| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Salla disease +3 more | |
| | | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Salla disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Salla disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Salla disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Salla disease +2 more | |
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