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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA1, LOC106627981
(L483P +2 more)
Single nucleotide variant
(missense variant)
GBA1-related condition
+15 more
GPathogenic; risk factor
LOC129933272, PTRHD1
(C52Y)
Single nucleotide variant
(missense variant)
Parkinsonian disorder
GPathogenic