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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGSH
(R428H)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CARD14, SGSH
(R245H)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
+4 more
GPathogenic
SGSH
(F225L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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