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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUMF1
(A279V +1 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
+1 more
GPathogenic/Likely pathogenic
SUMF1
(D273G +1 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GLikely pathogenic
SUMF1
(Q262R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SUMF1
(P191T +1 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GUncertain significance
SUMF1
(A5T)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GUncertain significance
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