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Links from MedGen

Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNCB
(P90L +1 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
GUncertain significance
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Lewy body dementia
+1 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 1
+1 more
GLikely benign
SNCA
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant Parkinson disease 1
+1 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 1
+1 more
GLikely benign
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant Parkinson disease 1
+1 more
GLikely benign
SNCA
(Q106R +2 more)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GUncertain significance
SNCA
Single nucleotide variant
(intron variant)
Lewy body dementia
+2 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 1
+1 more
GLikely benign
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Lewy body dementia
+1 more
GLikely benign
SNCA
(A11S)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GUncertain significance
SNCA
(M79I +1 more)
Single nucleotide variant
(missense variant +2 more)
Lewy body dementia
+1 more
GLikely benign
SNCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
SNCB
(E13Q)
Single nucleotide variant
(missense variant)
Lewy body dementia
GUncertain significance
SNCA
(E114D +1 more)
Single nucleotide variant
(missense variant +2 more)
Lewy body dementia
+1 more
GUncertain significance
SNCA
(G73S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Parkinson disease 1
+1 more
GUncertain significance
SNCA
(E75K +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant Parkinson disease 1
+1 more
GUncertain significance
SNCA
(P69S +1 more)
Single nucleotide variant
(missense variant +2 more)
Lewy body dementia
+1 more
GLikely benign
SNCA
(G68E)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GUncertain significance
SNCA
Single nucleotide variant
(intron variant)
Lewy body dementia
+1 more
GLikely benign
GBA1, LOC106627981
Single nucleotide variant
(3 prime UTR variant)
Gaucher disease type II
+6 more
GLikely benign
GBA1, LOC106627981
(P367L +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
GPathogenic
SNCA
(A30G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Parkinson disease 1
+2 more
GConflicting classifications of pathogenicity
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Lewy body dementia
+1 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 4
+2 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Lewy body dementia
+1 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Lewy body dementia
+1 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 1
+1 more
GLikely benign
SNCA
(P72L +1 more)
Single nucleotide variant
(missense variant +2 more)
Lewy body dementia
+1 more
GUncertain significance
SNCA
(E83Q)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GUncertain significance
SNCA
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 1
+1 more
GUncertain significance
SNCA
Duplication
Autosomal dominant Parkinson disease 1
+1 more
GPathogenic
SNCA
(A53V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant Parkinson disease 1
+2 more
GUncertain significance
SNCA
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 1
+1 more
GUncertain significance
SNCA
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant Parkinson disease 1
+1 more
GUncertain significance
SNCA
Deletion
Lewy body dementia
+1 more
GUncertain significance
SNCA
Copy number gain
Lewy body dementia
+1 more
Gnot provided
SNCB
(K34E)
Single nucleotide variant
(missense variant)
Lewy body dementia
GUncertain significance
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
SNCB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SNCA
Single nucleotide variant
(intron variant)
Lewy body dementia
+1 more
GLikely benign
SNCA
(Q24R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Parkinson disease 1
+1 more
GUncertain significance
SNCA
Single nucleotide variant
(3 prime UTR variant +1 more)
Lewy body dementia
+1 more
GUncertain significance
SNCA
(V16A)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GUncertain significance
SNCA
(K34E)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GUncertain significance
GBA1, LOC106627981
(T69fs)
Duplication
(frameshift variant +1 more)
not specified
+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
(P218fs +2 more)
Deletion
(frameshift variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
SNCA
(P80T +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant Parkinson disease 1
+2 more
GUncertain significance
SNCA
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson Disease, Dominant
+3 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Lewy body dementia
+3 more
GBenign/Likely benign
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant Parkinson disease 1
+2 more
GConflicting classifications of pathogenicity
VCP
(I171M +1 more)
Single nucleotide variant
(missense variant)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+1 more
GUncertain significance
GBA1, LOC106627981
(R83C)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GUncertain significance
GBA1, LOC106627981
(V499M +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
GBA1, LOC106627981
(S376T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
+6 more
GUncertain significance
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Lewy body dementia
+1 more
GLikely benign
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Lewy body dementia
+1 more
GLikely benign
SNCA
Single nucleotide variant
(intron variant)
Lewy body dementia
+1 more
GLikely benign
SNCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SNCA
(K96R)
Single nucleotide variant
(missense variant +1 more)
SNCA-related disorder
+3 more
GBenign/Likely benign
SNCA
(P117T +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant Parkinson disease 1
+2 more
GUncertain significance
GBA1, LOC106627981
(T75del)
Deletion
(inframe_deletion +1 more)
Parkinson disease, late-onset
+8 more
GPathogenic/Likely pathogenic
SNCA
Duplication
Autosomal dominant Parkinson disease 1
+1 more
GPathogenic
GBA1, LOC106627981
Single nucleotide variant
(splice acceptor variant)
Parkinson disease, late-onset
+7 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(L150fs +2 more)
Deletion
(frameshift variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+9 more
GPathogenic
GBA1, LOC106627981
(S310G +2 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
+7 more
GPathogenic/Likely pathogenic
LOC106627981, GBA1
Indel
(intron variant)
Gaucher disease perinatal lethal
+7 more
GUncertain significance
SNCA
Duplication
Lewy body dementia
+1 more
GPathogenic
GBA1
(S35L)
Single nucleotide variant
(missense variant +1 more)
Gaucher disease
+8 more
GUncertain significance
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not provided
+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
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Lewy body dementia
+3 more
GBenign/Likely benign
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Parkinson Disease, Dominant
+2 more
GConflicting classifications of pathogenicity
SNCA
Single nucleotide variant
(synonymous variant +1 more)
Parkinson Disease, Dominant
+4 more
GBenign/Likely benign
SNCA
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+4 more
GBenign/Likely benign
SNCA
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson Disease, Dominant
+2 more
GBenign
GBA1, LOC106627981
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GLikely benign
GBA1, LOC106627981
(I299T +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+8 more
GLikely pathogenic
LOC106627981, GBA1
Single nucleotide variant
(intron variant)
not provided
+8 more
GBenign/Likely benign
GBA1, LOC106627981
(L335fs +2 more)
Deletion
(frameshift variant)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
+8 more
GPathogenic
SNCA
(H50Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
GBA1
Single nucleotide variant
(intron variant +1 more)
Gaucher disease type I
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(S235P +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic
LOC129389225, MMRN1
+2 more
Duplication
Autosomal dominant Parkinson disease 1
+1 more
GPathogenic
SNCA
(E46K)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GPathogenic
SNCA
(A53T)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GPathogenic
SNCB
(P123H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SNCB
(V70M +1 more)
Single nucleotide variant
(missense variant)
Lewy body dementia
GPathogenic
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
(R296Q +2 more)
Single nucleotide variant
(missense variant)
GBA1-related disorder
+9 more
GPathogenic
GBA1, LOC106627981
(G416S +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+8 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(R398* +2 more)
Single nucleotide variant
(nonsense)
Lewy body dementia
+8 more
GPathogenic
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