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Items: 55

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
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC106627981, GBA1
Indel
(intron variant)
Gaucher disease perinatal lethal
+7 more
GUncertain significance
LOC106627981, GBA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GBA1, LOC106627981
(R502C +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+9 more
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
GBA1, LOC106627981
(A495P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(L483R +2 more)
Single nucleotide variant
(missense variant)
GBA-related disorders
+6 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L483P +2 more)
Single nucleotide variant
(missense variant)
GBA1-related condition
+15 more
GPathogenic; risk factor
LOC106627981, GBA1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC106627981, GBA1
(F450I +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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
(F436S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(G416S +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(V414L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N409K +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(N409S +2 more)
Single nucleotide variant
(missense variant)
GBA1-related condition
+13 more
GPathogenic/Likely pathogenic; risk factor
GBA1, LOC106627981
(T408M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(R398* +2 more)
Single nucleotide variant
(nonsense)
Lewy body dementia
+8 more
GPathogenic
GBA1, LOC106627981
(V391L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(E365K +2 more)
Single nucleotide variant
(missense variant)
not specified
+13 more
GBenign/Likely benign; risk factor
GBA1, LOC106627981
(G364R +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GLikely pathogenic
GBA1, LOC106627981
(D354H +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(V344I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(W330G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(S310G +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GBA1, LOC106627981
(R301H +2 more)
Single nucleotide variant
(missense variant)
GBA1-related condition
+1 more
GUncertain significance
GBA1, LOC106627981
(I299T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+8 more
GLikely pathogenic
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
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+9 more
GBenign/Likely benign
GBA1, LOC106627981
(F252I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(G241R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N227R +2 more)
Indel
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(N227K +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N227S +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic
GBA1, LOC106627981
(W223C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(W223R +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(L213F +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(S212T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GBA1, LOC106627981
(R209C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R202Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(I200N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GBA1, LOC106627981
(K194* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GBA1, LOC106627981
(Y174C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(R170C +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+5 more
GPathogenic
GBA1, LOC106627981
(A76fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
GBA1, LOC106627981
(M162T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(R159W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GBA1, LOC106627981
(I158T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GBA1, LOC106627981
(S146L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
LOC106627981, GBA1
(L144R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(K118N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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