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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGSH
(R433Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
SGSH
(S298P)
Single nucleotide variant
(missense variant +1 more)
Sanfilippo syndrome
+2 more
GPathogenic
SGSH
(R182C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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