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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNCA
(A30G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Parkinson disease 1
+2 more
GConflicting classifications of pathogenicity
SNCA
Single nucleotide variant
(intron variant)
Autosomal dominant Parkinson disease 4
+2 more
GLikely benign
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
(P117T +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant Parkinson disease 1
+2 more
GUncertain significance
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
+4 more
GBenign/Likely benign
SNCA
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+4 more
GBenign/Likely benign
SNCA
(H50Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
CCSER1, FAM13A
+43 more
Copy number gain
Autosomal dominant Parkinson disease 4
GPathogenic
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