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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
Deletion
(inframe_deletion +2 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
IDUA, SLC26A1
(Q70*)
Single nucleotide variant
(intron variant +3 more)
Mucopolysaccharidosis
+7 more
GPathogenic
IDUA, SLC26A1
(V80A)
Single nucleotide variant
(3 prime UTR variant +3 more)
IDUA-related condition
GUncertain significance
IDUA, SLC26A1
(R100G)
Single nucleotide variant
(3 prime UTR variant +3 more)
IDUA-related condition
+2 more
GConflicting classifications of pathogenicity
SLC26A1, IDUA
Single nucleotide variant
(3 prime UTR variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GLikely benign
IDUA
(S135fs +1 more)
Duplication
(frameshift variant +1 more)
IDUA-related condition
GLikely pathogenic
IDUA
(Y163H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
IDUA
Single nucleotide variant
(synonymous variant +1 more)
IDUA-related condition
+1 more
GLikely benign
IDUA
(H171Q +1 more)
Single nucleotide variant
(missense variant +1 more)
IDUA-related condition
GUncertain significance
IDUA
(S234T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
IDUA
(L105F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GConflicting classifications of pathogenicity
IDUA
(N373T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
IDUA
(W402* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+8 more
GPathogenic
IDUA
(Q296fs +1 more)
Duplication
(frameshift variant +1 more)
IDUA-related condition
+2 more
GPathogenic/Likely pathogenic
IDUA
(H449N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
IDUA
(P318R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
IDUA-related condition
+2 more
GConflicting classifications of pathogenicity
IDUA
(Q455* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
+1 more
GPathogenic
IDUA
Single nucleotide variant
(intron variant)
IDUA-related condition
+1 more
GConflicting classifications of pathogenicity
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GLikely benign
IDUA
(V509F +1 more)
Single nucleotide variant
(missense variant +1 more)
IDUA-related condition
GUncertain significance
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