| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129936056, SUMF1 (G78D) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency +1 more | |
| | LOC129936056, SUMF1 (S71L) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency +1 more | |
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