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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDS
(E521D +1 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-II
GLikely pathogenic
IDS
(R493P +1 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-II
GLikely pathogenic
IDS
(R468Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
IDS
(P467L +1 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-II
GUncertain significance
IDS
(C422R +1 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-II
GConflicting classifications of pathogenicity
IDS, LOC106050102
(R271W +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
GLikely pathogenic
IDS, LOC106050102
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-II
GLikely pathogenic
IDS, LOC106050102
(P107fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-II
GPathogenic
IDS, LOC106050102
(D198N +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
GPathogenic/Likely pathogenic
IDS
(P120R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
GLikely pathogenic
IDS
(N63D)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-II
GConflicting classifications of pathogenicity
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