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Items: 1 to 100 of 1390

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA
Deletion
(intron variant)
Hurler syndrome
GPathogenic
IDUA
Single nucleotide variant
(intron variant)
not provided
GBenign
IDUA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Deletion
(splice acceptor variant)
Mucopolysaccharidosis type 1
GLikely pathogenic
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
+1 more
GConflicting classifications of pathogenicity
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
GLikely pathogenic
IDUA
(R100S)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA
(G101R)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(T103fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis type 1
GPathogenic/Likely pathogenic
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(R105W)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
IDUA
(R105P)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA
(R105Q)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-I-S
+5 more
GBenign
IDUA
(G106R)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA
(G106S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(S108C)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA
Deletion
(inframe_deletion +2 more)
Mucopolysaccharidosis type 1
GPathogenic/Likely pathogenic
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(L114M)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-I-S
+3 more
GUncertain significance
IDUA
(L114R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(G116R)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(G116R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign/Likely benign
IDUA
(G116E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA
(Y117fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Hurler syndrome
+5 more
GBenign
IDUA
(D119fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
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
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(L121P)
Single nucleotide variant
(missense variant +2 more)
Hurler syndrome
GLikely pathogenic
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(R122K)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(E123*)
Single nucleotide variant
(nonsense +2 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
(E123K)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(Q125*)
Single nucleotide variant
(nonsense +2 more)
Hurler syndrome
GLikely pathogenic
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
+3 more
GPathogenic
IDUA
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
(F130fs)
Deletion
(frameshift variant +2 more)
Hurler syndrome
GLikely pathogenic
IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Deletion
(inframe_deletion +2 more)
Mucopolysaccharidosis, MPS-I-S
+3 more
GPathogenic/Likely pathogenic
IDUA
(M133I +1 more)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+1 more
GUncertain significance
IDUA
(S135fs +1 more)
Duplication
(frameshift variant +1 more)
IDUA-related disorder
GLikely pathogenic
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
(S3fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
GBenign
IDUA
(A136T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IDUA
(S5L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA
(S5W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis type 1
GLikely benign
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