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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
+2 more
GBenign
IDUA, SLC26A1
Deletion
(inframe_deletion +2 more)
IDUA-related condition
+4 more
GPathogenic
IDUA, SLC26A1
(L18P)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+2 more
GConflicting classifications of pathogenicity
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
IDUA, SLC26A1
(G51D)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
IDUA, SLC26A1
Deletion
(3 prime UTR variant +2 more)
Mucopolysaccharidosis type 1
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(P55fs)
Deletion
(3 prime UTR variant +3 more)
not provided
GPathogenic
SLC26A1, IDUA
(Y64fs)
Deletion
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA, SLC26A1
(Q70*)
Single nucleotide variant
(3 prime UTR variant +3 more)
IDUA-related condition
+7 more
GPathogenic
IDUA, SLC26A1
Single nucleotide variant
(3 prime UTR variant +3 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(A79T)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+4 more
GBenign/Likely benign; other
IDUA, SLC26A1
(H82P)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+3 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(H82Q)
Single nucleotide variant
(3 prime UTR variant +3 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity; other
SLC26A1, IDUA
(T99I)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+2 more
GBenign
IDUA, SLC26A1
(R100K)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(splice donor variant +2 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA, SLC26A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GBenign/Likely benign
SLC26A1, IDUA
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(R538W)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
SLC26A1, IDUA
(W249*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDUA
(R105Q)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
not specified
+5 more
GBenign
IDUA
(E123K)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
IDUA
(Y167* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign
IDUA
(T194S +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
IDUA
(S213R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(L218P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
IDUA
(L256P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
(Q282L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+6 more
GBenign/Likely benign
IDUA
(L308P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GConflicting classifications of pathogenicity
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GBenign
IDUA
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
(A327P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
(D349N +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA
(A361T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+3 more
GBenign
IDUA
(T388R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
(T388K +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GConflicting classifications of pathogenicity
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
Duplication
(intron variant)
Mucopolysaccharidosis type 1
+2 more
GBenign
IDUA
Deletion
(intron variant)
not provided
+2 more
GBenign
IDUA
Insertion
(intron variant)
Mucopolysaccharidosis type 1
+2 more
GBenign/Likely benign
IDUA
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
IDUA-related condition
+8 more
GPathogenic
IDUA
(G409R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+3 more
GConflicting classifications of pathogenicity
IDUA
Deletion
(inframe_deletion +1 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GBenign
IDUA
(A424D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(W434C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(H449N +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+3 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
(splice donor variant)
not provided
GPathogenic
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
+3 more
GBenign
IDUA
(L490P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
IDUA
(P496R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+2 more
GPathogenic/Likely pathogenic
IDUA
(P510R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
IDUA
(P533L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA
(P533R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+5 more
GPathogenic
IDUA
(H539fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
IDUA
Single nucleotide variant
(intron variant)
Hurler syndrome
+2 more
GPathogenic/Likely pathogenic
IDUA
(A591T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GConflicting classifications of pathogenicity
IDUA
(A591V +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
Deletion
(nonsense +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
(R619* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
IDUA
(S633W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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