ClinVar for MedGen (Select 357008) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2950001	NM_000345.4(SNCA):c.105G>A (p.Glu35=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +1 more	GLikely benign
Select item 2949370	NM_000345.4(SNCA):c.306+20G>A	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2947524	NM_000345.4(SNCA):c.375T>C (p.Tyr125=)	SNCA	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2947523	NM_000345.4(SNCA):c.390+7G>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2942456	NM_000345.4(SNCA):c.396G>T (p.Gly132=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2940508	NM_000345.4(SNCA):c.401A>G (p.Gln134Arg)	SNCA (Q106R +2 more)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 2934109	NM_000345.4(SNCA):c.121+9A>C	SNCA	Single nucleotide variant (intron variant)	SNCA-related condition +2 more	GLikely benign
Select item 2933325	NM_000345.4(SNCA):c.164-16T>A	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2925064	NM_000345.4(SNCA):c.99A>G (p.Thr33=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +1 more	GLikely benign
Select item 2924961	NM_000345.4(SNCA):c.31G>T (p.Ala11Ser)	SNCA (A11S)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 2923907	NM_000345.4(SNCA):c.381G>A (p.Met127Ile)	SNCA (M79I +1 more)	Single nucleotide variant (missense variant +2 more)	Lewy body dementia +1 more	GLikely benign
Select item 2663805	NM_000345.4(SNCA):c.391-14T>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1	GUncertain significance
Select item 2654947	NM_000345.4(SNCA):c.9A>G (p.Val3=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2196956	NM_000345.4(SNCA):c.342A>C (p.Glu114Asp)	SNCA (E114D +1 more)	Single nucleotide variant (missense variant +2 more)	Lewy body dementia +1 more	GUncertain significance
Select item 2163003	NM_000345.4(SNCA):c.217G>A (p.Gly73Ser)	SNCA (G73S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 2045977	NM_000345.4(SNCA):c.367G>A (p.Glu123Lys)	SNCA (E75K +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 2038359	NM_000345.4(SNCA):c.349C>T (p.Pro117Ser)	SNCA (P69S +1 more)	Single nucleotide variant (missense variant +2 more)	Lewy body dementia +1 more	GLikely benign
Select item 1970513	NM_000345.4(SNCA):c.203G>A (p.Gly68Glu)	SNCA (G68E)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1902821	NM_000345.4(SNCA):c.307-13C>T	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 1804058	NM_000345.4(SNCA):c.174G>C (p.Lys58Asn)	SNCA (K58N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1	GLikely pathogenic
Select item 1678622	NM_000345.4(SNCA):c.89C>G (p.Ala30Gly)	SNCA (A30G)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +2 more	GConflicting classifications of pathogenicity
Select item 1670833	NM_000345.4(SNCA):c.246G>A (p.Val82=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +1 more	GLikely benign
Select item 1657000	NM_000345.4(SNCA):c.391-16A>G	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 4 +2 more	GLikely benign
Select item 1654927	NM_000345.4(SNCA):c.121+13C>T	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 1590414	NM_000345.4(SNCA):c.306+8T>C	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 1553611	NM_000345.4(SNCA):c.390+11A>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 1524438	NM_000345.4(SNCA):c.359C>T (p.Pro120Leu)	SNCA (P72L +1 more)	Single nucleotide variant (missense variant +2 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1509118	NM_000345.4(SNCA):c.247G>C (p.Glu83Gln)	SNCA (E83Q)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1472092	NM_000345.4(SNCA):c.391-7A>G	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 1454898	NC_000004.11:g.(?_90647779)_(90756818_?)dup	SNCA	Duplication	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 1393530	NM_000345.4(SNCA):c.158C>T (p.Ala53Val)	SNCA (A53V)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant Parkinson disease 1 +2 more	GUncertain significance
Select item 1388864	NM_000345.4(SNCA):c.163+6C>A	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 1373474	NM_000345.4(SNCA):c.122-2A>C	SNCA	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 1372807	NC_000004.11:g.(?_90647315)_(90756828_?)del	SNCA	Deletion	Lewy body dementia +1 more	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 1147109	NM_000345.4(SNCA):c.306+7C>T	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 1051847	NM_000345.4(SNCA):c.71A>G (p.Gln24Arg)	SNCA (Q24R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 1020728	NM_000345.4(SNCA):c.*464C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1009952	NM_000345.4(SNCA):c.47T>C (p.Val16Ala)	SNCA (V16A)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 1003636	NM_000345.4(SNCA):c.100A>G (p.Lys34Glu)	SNCA (K34E)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 907547	NM_000345.4(SNCA):c.382C>A (p.Pro128Thr)	SNCA (P80T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant Parkinson disease 1 +2 more	GUncertain significance
Select item 907545	NM_000345.4(SNCA):c.*77C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant +3 more	GLikely benign
Select item 904210	NM_000345.4(SNCA):c.121+11C>T	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +3 more	GBenign/Likely benign
Select item 872747	NM_000345.4(SNCA):c.225A>T (p.Thr75=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant Parkinson disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 871101	NM_000345.4(SNCA):c.44T>C (p.Val15Ala)	SNCA (V15A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 772345	NM_000345.4(SNCA):c.156G>T (p.Val52=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +1 more	GLikely benign
Select item 767542	NM_000345.4(SNCA):c.147G>A (p.Val49=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +1 more	GLikely benign
Select item 763646	NM_000345.4(SNCA):c.163+7T>G	SNCA	Single nucleotide variant (intron variant)	Lewy body dementia +1 more	GLikely benign
Select item 705925	NM_000345.4(SNCA):c.216G>A (p.Thr72=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 704527	NM_000345.4(SNCA):c.287A>G (p.Lys96Arg)	SNCA (K96R)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant +3 more	GBenign/Likely benign
Select item 652694	NM_000345.4(SNCA):c.349C>A (p.Pro117Thr)	SNCA (P117T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant Parkinson disease 1 +2 more	GUncertain significance
Select item 639372	NC_000004.11:g.(?_90647315)_(90756828_?)dup	SNCA	Duplication	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 531846	NC_000004.11:g.(?_90647315)_(90756838_?)dup	SNCA	Duplication	Lewy body dementia +1 more	GPathogenic
Select item 350106	NM_000345.4(SNCA):c.243A>G (p.Thr81=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant +3 more	GBenign/Likely benign
Select item 350105	NM_000345.4(SNCA):c.298T>C (p.Leu100=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 350104	NM_000345.4(SNCA):c.408C>T (p.Tyr136=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant +4 more	GBenign/Likely benign
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 350098	NM_000345.4(SNCA):c.*501C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant +2 more	GBenign
Select item 162095	NM_000345.4(SNCA):c.150T>G (p.His50Gln)	SNCA (H50Q)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +4 more	GUncertain significance
Select item 97000	NM_000345.4(SNCA):c.152G>A (p.Gly51Asp)	SNCA (G51D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1	GPathogenic
Select item 14011	NC_000004.12:g.(?_89724098)_(89927969_89934809)dup	LOC129389225, MMRN1 +2 more	Duplication	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 14010	NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)	SNCA (E46K)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GPathogenic
Select item 14008	NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)	SNCA (A30P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1	GLikely pathogenic
Select item 14007	NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)	SNCA (A53T)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GPathogenic

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Links from MedGen

Items: 64