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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB
(W312C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB
(Y210C)
Single nucleotide variant
(missense variant)
Metachromatic leukodystrophy
+2 more
GPathogenic
ARSB
(R159C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
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