"GeneDx"[submitter] AND "SNCA"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 146171	GRCh38/hg38 4q22.1(chr4:89537501-90291933)x1	CCSER1, LOC110121083 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 350093	NM_000345.4(SNCA):c.*893C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant +1 more	GBenign
Select item 350103	NM_000345.4(SNCA):c.*139T>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 350104	NM_000345.4(SNCA):c.408C>T (p.Tyr136=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1252508	NM_000345.4(SNCA):c.391-54A>G	SNCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200375	NM_000345.4(SNCA):c.391-211ACT[4]	SNCA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1196020	NM_000345.4(SNCA):c.390+36T>C	SNCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223289	NM_000345.4(SNCA):c.306+78dup	SNCA	Duplication (intron variant)	not provided	GBenign
Select item 1296756	NM_000345.4(SNCA):c.306+66G>A	SNCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365939	NM_000345.4(SNCA):c.280T>G (p.Phe94Val)	SNCA (F94V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1698083	NM_000345.4(SNCA):c.164-108T>A	SNCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296765	NM_000345.4(SNCA):c.164-316G>C	SNCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199658	NM_000345.4(SNCA):c.163+206A>G	SNCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243292	NM_000345.4(SNCA):c.163+162T>A	SNCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162095	NM_000345.4(SNCA):c.150T>G (p.His50Gln)	SNCA (H50Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 4 +4 more	GUncertain significance
Select item 1196419	NM_000345.4(SNCA):c.122-100A>C	SNCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291645	NM_000345.4(SNCA):c.122-135_122-131dup	SNCA	Duplication (intron variant)	not provided	GBenign
Select item 1201597	NM_000345.4(SNCA):c.122-135_122-134insTATTT	SNCA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1243971	NM_000345.4(SNCA):c.122-136A>T	SNCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232535	NM_000345.4(SNCA):c.122-174_122-173del	SNCA	Deletion (intron variant)	not provided	GBenign
Select item 1222121	NM_000345.4(SNCA):c.121+277C>G	SNCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211371	NM_000345.4(SNCA):c.121+165G>A	SNCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296792	NM_000345.4(SNCA):c.121+148G>C	SNCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214888	NM_000345.4(SNCA):c.121+72G>A	SNCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2573879	NM_000345.4(SNCA):c.106G>C (p.Gly36Arg)	SNCA (G36R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574845	NM_000345.4(SNCA):c.8T>A (p.Val3Glu)	SNCA (V3E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 29