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Items: 1 to 100 of 283

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
(M1V)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GPathogenic
IDUA, SLC26A1
(L4P)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(A12V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDUA, SLC26A1
Deletion
(non-coding transcript variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
IDUA, SLC26A1
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
IDUA, SLC26A1
(L18P)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(P29R)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
IDUA, SLC26A1
(R38S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDUA, SLC26A1
(R45C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
(W47*)
Single nucleotide variant
(nonsense +2 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA, SLC26A1
(G51D)
Single nucleotide variant
(missense variant +2 more)
Hurler syndrome
+4 more
GPathogenic
IDUA, SLC26A1
(C53R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDUA, SLC26A1
(C53S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely pathogenic
SLC26A1, IDUA
Deletion
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC26A1, IDUA
(L56fs)
Duplication
(frameshift variant +3 more)
See cases
+2 more
GPathogenic
IDUA, SLC26A1
(P55L)
Single nucleotide variant
(3 prime UTR variant +3 more)
Inborn genetic diseases
+2 more
GUncertain significance
IDUA, SLC26A1
(L56fs)
Deletion
(3 prime UTR variant +3 more)
not provided
+1 more
GPathogenic
SLC26A1, IDUA
(Y64*)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+2 more
GPathogenic
SLC26A1, IDUA
(Q70*)
Single nucleotide variant
(3 prime UTR variant +3 more)
Interstitial pneumonitis
+7 more
GPathogenic
IDUA, SLC26A1
(Q70fs)
Deletion
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA, SLC26A1
(N73S)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
GUncertain significance
SLC26A1, IDUA
(A75T)
Single nucleotide variant
(missense variant +3 more)
Hurler syndrome
+2 more
GPathogenic
IDUA, SLC26A1
(Y76C)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+3 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(G78D)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
(A79V)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(P81S)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
(H82P)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+3 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(R83C)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA, SLC26A1
(G84S)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+2 more
GUncertain significance
IDUA, SLC26A1
(R89W)
Single nucleotide variant
(3 prime UTR variant +3 more)
Hurler syndrome
+4 more
GPathogenic/Likely pathogenic
IDUA, SLC26A1
(T90A)
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
GUncertain significance
IDUA, SLC26A1
(R100G)
Single nucleotide variant
(intron variant +3 more)
Mucopolysaccharidosis type 1
+2 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
Indel
(3 prime UTR variant +2 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA, SLC26A1
Single nucleotide variant
(3 prime UTR variant +2 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA, SLC26A1
(D636Y)
Single nucleotide variant
(missense variant +1 more)
Calcium oxalate urolithiasis
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(P461L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(P432L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
(V351M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA, SLC26A1
(R139W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA, SLC26A1
(T104M)
Single nucleotide variant
(missense variant +1 more)
Calcium oxalate urolithiasis
+2 more
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(Q51H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDUA
(L114R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDUA
(D119Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDUA
(D119A)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
+3 more
GPathogenic
IDUA
(A136T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GUncertain significance
IDUA
(H7P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
(L155V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(Y163H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
IDUA
(G165S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(R166T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA
(G36R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
IDUA
(V172I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(W175R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GConflicting classifications of pathogenicity
IDUA
(F177L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(E46K +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA
(E178Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA
(E178D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(T179S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(T179A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
IDUA
(T47M +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA
(W180* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
IDUA
(N181fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
IDUA
(N181S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(P183A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(P183S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(D184Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(D184G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(N190fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
(M193I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IDUA
Single nucleotide variant
(intron variant)
Hurler syndrome
+2 more
GPathogenic
IDUA
(Y201* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
IDUA
(C205* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GConflicting classifications of pathogenicity
IDUA
(G208D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+2 more
GPathogenic/Likely pathogenic
IDUA
(R210G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(R210H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA
Duplication
(inframe_insertion +1 more)
not provided
+2 more
GUncertain significance
IDUA
Duplication
(inframe_insertion +1 more)
Hurler syndrome
+2 more
GUncertain significance
IDUA
(R217W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA
(G219R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA
(G222S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(G222C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
IDUA
(D223Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
(S92P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
IDUA
(S234T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GConflicting classifications of pathogenicity
IDUA
(L238Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
IDUA
(H108Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDUA
(H110Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(F248del +1 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
IDUA
(T117I +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
(G118V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDUA
(G253C +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GConflicting classifications of pathogenicity
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