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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GUSB
Duplication
(inframe_insertion +1 more)
Mucopolysaccharidosis type 7
GLikely benign
GUSB
(S35*)
Single nucleotide variant
(nonsense +2 more)
Mucopolysaccharidosis type 7
GLikely pathogenic