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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
(L56fs)
Duplication
(3 prime UTR variant +3 more)
not provided
+2 more
GPathogenic
SGSH
(A63D)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
+1 more
GLikely pathogenic