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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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