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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA1, LOC106627981
(R535H +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R502H +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R502C +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+9 more
GPathogenic
GBA1, LOC106627981
(L483P +2 more)
Single nucleotide variant
(missense variant)
GBA1-related condition
+15 more
GPathogenic; risk factor
GBA1, LOC106627981
(D448V +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(D448H +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L335fs +2 more)
Deletion
(frameshift variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+8 more
GPathogenic
GBA1, LOC106627981
(V433L +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(G416S +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N409T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
Gnot provided
GBA1, LOC106627981
(N409S +2 more)
Single nucleotide variant
(missense variant)
GBA1-related condition
+13 more
GPathogenic/Likely pathogenic; risk factor
GBA1, LOC106627981
(E365K +2 more)
Single nucleotide variant
(missense variant)
not specified
+13 more
GBenign/Likely benign; risk factor
GBA1, LOC106627981
(R296Q +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic
GBA1, LOC106627981
(H294Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity; other
GBA1, LOC106627981
(F252I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(S235P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N227S +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic
GBA1, LOC106627981
(R170L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
GLikely pathogenic
GBA1, LOC106627981
(R159Q +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R159W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GBA1, LOC106627981
(G85E)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease
GPathogenic
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