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Items: 5

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
(Q70*)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+7 more
GPathogenic
IDUA, SLC26A1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+4 more
GBenign
IDUA
(A361T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
IDUA
(G409R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+3 more
GConflicting classifications of pathogenicity
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