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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA2
(R870*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 46
GLikely pathogenic
GBA2
(R850C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GBA2
(P503S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
GUncertain significance
GBA2
(H114R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
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