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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB
(S384N)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+2 more
GBenign
ARSB
(R315Q)
Single nucleotide variant
(missense variant)
ARSB-related condition
+2 more
GPathogenic/Likely pathogenic
ARSB
(W312C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(L82R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
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