U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
Deletion
(inframe deletion +2 more)
Hurler syndrome
+4 more
GPathogenic
IDUA, SLC26A1
(G243S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA
(Y202* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
+1 more
GPathogenic/Likely pathogenic
IDUA
(F155C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(D349H +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
GUncertain significance
IDUA
(T234fs +1 more)
Deletion
(frameshift variant +1 more)
Hurler syndrome
+1 more
GPathogenic/Likely pathogenic
IDUA
(L490P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+2 more
GPathogenic/Likely pathogenic
IDUA
(V419D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
Format
Items per page
Sort by
Choose Destination