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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
Gaucher disease type II
+4 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(L483P +2 more)
Single nucleotide variant
(missense variant)
not specified
+14 more
GPathogenic; risk factor