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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA2
Single nucleotide variant
(3 prime UTR variant +1 more)
GBA2-related disorder
+1 more
GLikely benign
GBA2
(R734H)
Single nucleotide variant
(missense variant)
GBA2-related disorder
+3 more
GConflicting classifications of pathogenicity
GBA2
Single nucleotide variant
(intron variant)
GBA2-related disorder
GLikely benign
GBA2
Single nucleotide variant
(intron variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
GBA2
(T516A)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GLikely benign
GBA2
(T346M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
GBA2
(G10E)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GLikely benign
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