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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUMF1
(P329L +2 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GUncertain significance
SUMF1
(R345C +2 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GPathogenic