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Links from MedGen

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNCA
(G36S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Parkinson disease 1
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
(intron variant)
Autosomal dominant Parkinson disease 1
GUncertain significance
SNCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
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
SNCA
(K58N)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Parkinson disease 1
GLikely pathogenic
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
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
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
SNCA
(V15A)
Single nucleotide variant
(missense variant +1 more)
not provided
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
SNCA
Duplication
Autosomal dominant Parkinson disease 1
+1 more
GPathogenic
SNCA
Duplication
Lewy body dementia
+1 more
GPathogenic
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
SNCA
(H50Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
SNCA
(G51D)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Parkinson disease 1
GPathogenic
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
(A30P)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Parkinson disease 1
GLikely pathogenic
SNCA
(A53T)
Single nucleotide variant
(missense variant +1 more)
Lewy body dementia
+1 more
GPathogenic
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