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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
(G51D)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
IDUA, SLC26A1
(Q70*)
Single nucleotide variant
(3 prime UTR variant +3 more)
IDUA-related condition
+7 more
GPathogenic
IDUA, SLC26A1
(A79T)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+4 more
GBenign/Likely benign; other
IDUA, SLC26A1
(H82Q)
Single nucleotide variant
(3 prime UTR variant +3 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity; other
IDUA, SLC26A1
(R89Q)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
+2 more
GPathogenic
IDUA
(E207fs +1 more)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
(D223N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign; other
IDUA
(R263W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
IDUA
(V322E +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GBenign/Likely benign; other
IDUA
(A327P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
(Y343* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
GPathogenic
IDUA
(A361T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+3 more
GBenign
IDUA
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
IDUA-related condition
+8 more
GPathogenic
IDUA
(P533R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+5 more
GPathogenic
IDUA
(S586F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
IDUA
Single nucleotide variant
(stop lost +1 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
Single nucleotide variant
(stop lost +1 more)
Mucopolysaccharidosis type 1
GPathogenic
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