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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA1, LOC106627981
(D448H +2 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N409S +2 more)
Single nucleotide variant
(missense variant)
GBA1-related disorder
+13 more
GPathogenic/Likely pathogenic; risk factor
GBA1, LOC106627981
(H294Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity; other
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