U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUMF1
(R349W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SUMF1
(R345C +2 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
(A279V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SUMF1
(G263V +1 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GPathogenic
SUMF1
(G247R +1 more)
Single nucleotide variant
(missense variant)
Multiple sulfatase deficiency
GLikely pathogenic
SUMF1
(S155P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination