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Links from MedGen

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA1, LOC106627981
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease type II
+6 more
GLikely benign
GBA1, LOC106627981
(L335fs +2 more)
Deletion
(frameshift variant)
Gaucher disease perinatal lethal
GPathogenic
GBA1
(S4P)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease type II
+7 more
GUncertain significance
GBA1, LOC106627981
(A261G +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
GBA1, LOC106627981
(W330G +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(M313I +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type II
+7 more
GUncertain significance
LOC106627981, GBA1
(T362M +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+7 more
GUncertain significance
GBA1, LOC106627981
(G49S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC106627981, GBA1
(T69fs)
Duplication
(frameshift variant +1 more)
Parkinson disease, late-onset
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(P134T +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(P430L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GBA1, LOC106627981
Deletion
(intron variant)
Gaucher disease perinatal lethal
GUncertain significance
GBA1
(P12S)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease perinatal lethal
GUncertain significance
GBA1, LOC106627981
(P218fs +2 more)
Deletion
(frameshift variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R83C)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease type I
+8 more
GUncertain significance
GBA1, LOC106627981
(V499M +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+7 more
GUncertain significance
GBA1, LOC106627981
(S376T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GUncertain significance
GBA1, LOC106627981
(S352N +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+4 more
GUncertain significance
GBA1, LOC106627981
(T75del)
Deletion
(inframe_deletion +1 more)
Lewy body dementia
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(splice acceptor variant)
Gaucher disease perinatal lethal
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L150fs +2 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+9 more
GPathogenic
GBA1, LOC106627981
(S310G +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
Indel
(intron variant)
Gaucher disease perinatal lethal
+7 more
GUncertain significance
GBA1
(S35L)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease
+7 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
Lewy body dementia
+7 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(W351S +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+7 more
GLikely pathogenic
Gaucher disease type I
GLikely pathogenic
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GLikely benign
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
GBA1, LOC106627981
(H294Q +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
+8 more
GConflicting classifications of pathogenicity; other
GBA1, LOC106627981
(E365K +2 more)
Single nucleotide variant
(missense variant)
not specified
+13 more
GBenign/Likely benign; risk factor
GBA1, LOC106627981
(I299T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+8 more
GLikely pathogenic
GBA1, LOC106627981
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+9 more
GBenign/Likely benign
GBA1, LOC106627981
(L335fs +2 more)
Deletion
(frameshift variant)
not provided
+8 more
GPathogenic
GBA1, LOC106627981
(T408M +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
GBA1
Single nucleotide variant
(intron variant +1 more)
not provided
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(S235P +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(D395N +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+8 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(D448H +5 more)
Single nucleotide variant
(missense variant)
Gaucher disease type II
+1 more
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(splice acceptor variant)
Gaucher disease perinatal lethal
GPathogenic
GBA1, LOC106627981
(F290L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
GPathogenic
GBA1, LOC106627981
(R170L +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease
GLikely pathogenic
GBA1, LOC106627981
(R296Q +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic
GBA1, LOC106627981
(G416S +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R398* +2 more)
Single nucleotide variant
(nonsense)
Gaucher disease type I
+8 more
GPathogenic
GBA1, LOC106627981
(H350R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GBA1, LOC106627981
(P178fs +2 more)
Deletion
(frameshift variant)
Gaucher disease type I
GLikely pathogenic
GBA1, LOC106627981
(R87W)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease perinatal lethal
+9 more
GPathogenic
GBA1, LOC106627981
(G364R +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GLikely pathogenic
GBA1, LOC106627981
(N227S +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic
GBA1, LOC106627981
(R535H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(T362I +2 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(V437F +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
GPathogenic
GBA1
(L29fs)
Duplication
(frameshift variant +1 more)
Parkinson disease, late-onset
+8 more
GPathogenic
GBA1, LOC106627981
(F252I +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(E365K +5 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
GBA1, LOC106627981
(F255Y +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L483P +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
GBA1, LOC106627981
(R502C +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+9 more
GPathogenic
GBA1, LOC106627981
(D448H +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(V433L +2 more)
Single nucleotide variant
(missense variant)
Parkinson disease, late-onset
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R159Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N409S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+12 more
GPathogenic/Likely pathogenic; risk factor
GBA1, LOC106627981
(L483P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+15 more
GPathogenic; risk factor
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