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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
(S67C)
Single nucleotide variant
(3 prime UTR variant +3 more)
Hurler syndrome
+1 more
GUncertain significance
IDUA, SLC26A1
(D636Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(T629M)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(A571T)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(T562M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
(P545S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(R541H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(E487K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(L483Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(A469V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(R455C)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
SLC26A1, IDUA
(L348P)
Single nucleotide variant
(missense variant +1 more)
Calcium oxalate urolithiasis
+1 more
GLikely benign
IDUA, SLC26A1
(R254C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
IDUA, SLC26A1
(M244T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(G145S)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(R119Q)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(G76R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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