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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA2
(P503S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
GUncertain significance
GBA2
(M750fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 46
GPathogenic
GBA2
Deletion
(frameshift variant)
Hereditary spastic paraplegia 46
GPathogenic
GBA2
(R314C)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
GBA2, LOC130001725
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
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