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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
+2 more
GBenign
IDUA, SLC26A1
(H33Q)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+5 more
GBenign
SLC26A1, IDUA
(Q70*)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis
+7 more
GPathogenic
IDUA, SLC26A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GBenign/Likely benign
IDUA
(R105Q)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-I-S
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
not specified
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign
IDUA
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GBenign
IDUA
(A327P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+2 more
GPathogenic/Likely pathogenic
IDUA
(A361T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+3 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
IDUA
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+8 more
GPathogenic
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GBenign
IDUA
(H449N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
IDUA
(V454I +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
+3 more
GBenign
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