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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDS
(Q531* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
IDS
(V503D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
IDS
(R468P +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
IDS
(R468Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
IDS
(R468W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
IDS
(C422F +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
IDS
(C422Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
IDS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IDS, LOC106050102
(P293fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
IDS, LOC106050102
(A338D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDS, LOC106050102
Single nucleotide variant
(intron variant)
not provided
GPathogenic
IDS, LOC106050102
(S333L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
IDS, LOC106050102
(T309A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign
IDS, LOC106050102
Insertion
(nonsense +1 more)
not provided
GPathogenic
IDS, LOC106050102
(P231fs +1 more)
Insertion
(frameshift variant +1 more)
not provided
GPathogenic
IDS, LOC106050102
(T214M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
IDS, LOC106050102
(K109fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
IDS, LOC106050102
(L196S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
IDS, LOC106050102
(P160H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
IDS, LOC106050102
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign
IDS, LOC106050102
Duplication
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IDS
(K135fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic
IDS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDS
(S17fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
IDS
(R101C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IDS
(R88C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
IDS
(A85T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
IDS
(C84*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
IDS
(H70fs)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
IDS
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-II
+2 more
GBenign/Likely benign
IDS
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign/Likely benign
IDS
(D35G)
Single nucleotide variant
(missense variant +2 more)
IDS-related condition
+2 more
GConflicting classifications of pathogenicity
IDS
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
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