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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA1, LOC106627981
(R502C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+9 more
GPathogenic
GBA1, LOC106627981
(N414K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
GBA1, LOC106627981
(L483R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N409S +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GPathogenic/Likely pathogenic; risk factor
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