Related gene-specific medical variations for Gene (Select 6622) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068157	NM_000345.4(SNCA):c.106G>A (p.Gly36Ser)	SNCA (G36S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1	GUncertain significance
Select item 1339894	GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3	SNCA	Copy number gain	Lewy body dementia +1 more	Gnot provided
Select item 904994	NM_000345.4(SNCA):c.-127C>T	SNCA, SNCA-AS1	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 904212	NM_000345.4(SNCA):c.-115C>G	SNCA, SNCA-AS1	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 904211	NM_000345.4(SNCA):c.-26+7G>A	SNCA, SNCA-AS1	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 631952	NM_000345.4(SNCA):c.-26+1G>A	SNCA-AS1, SNCA	Single nucleotide variant (5 prime UTR variant +3 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 369445	NM_001146055.2(SNCA):c.-26+1042G>A	SNCA, SNCA-AS1	Single nucleotide variant (intron variant)	Parkinson Disease, Dominant	GLikely benign
Select item 350112	NM_000345.3(SNCA):c.-251A>C	SNCA, SNCA-AS1	Single nucleotide variant (intron variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 350111	NM_000345.4(SNCA):c.-219G>C	SNCA, SNCA-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350110	NM_000345.4(SNCA):c.-129G>A	SNCA, SNCA-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350109	NM_000345.4(SNCA):c.-42T>C	SNCA, SNCA-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350108	NM_000345.4(SNCA):c.-40G>A	SNCA, SNCA-AS1	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350107	NM_000345.4(SNCA):c.-26+15C>T	SNCA, SNCA-AS1	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson Disease, Dominant	GLikely benign
Select item 91933	NM_000345.4(SNCA):c.251G>T (p.Gly84Val)	SNCA (G84V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance