ClinVar for MedGen (Select 357008) - ClinVar

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Items: 51

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26638051.	NM_000345.4(SNCA):c.391-14T>C GRCh37: Chr4:90647825 GRCh38: Chr4:89726674	SNCA		Autosomal dominant Parkinson disease 1	Uncertain significance (Nov 3, 2023)	criteria provided, single submitter
Select item 21969562.	NM_000345.4(SNCA):c.342A>C (p.Glu114Asp) GRCh37: Chr4:90650393 GRCh38: Chr4:89729242	SNCA	E114D, E66D	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 21630033.	NM_000345.4(SNCA):c.217G>A (p.Gly73Ser) GRCh37: Chr4:90743486 GRCh38: Chr4:89822335	SNCA	G73S	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 20459774.	NM_000345.4(SNCA):c.367G>A (p.Glu123Lys) GRCh37: Chr4:90650368 GRCh38: Chr4:89729217	SNCA	E75K, E123K	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 20383595.	NM_000345.4(SNCA):c.349C>T (p.Pro117Ser) GRCh37: Chr4:90650386 GRCh38: Chr4:89729235	SNCA	P69S, P117S	Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 19705136.	NM_000345.4(SNCA):c.203G>A (p.Gly68Glu) GRCh37: Chr4:90743500 GRCh38: Chr4:89822349	SNCA	G68E	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 19028217.	NM_000345.4(SNCA):c.307-13C>T GRCh37: Chr4:90650441 GRCh38: Chr4:89729290	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 18040588.	NM_000345.4(SNCA):c.174G>C (p.Lys58Asn) GRCh37: Chr4:90743529 GRCh38: Chr4:89822378	SNCA	K58N	Autosomal dominant Parkinson disease 1	Likely pathogenic (Sep 25, 2020)	criteria provided, single submitter
Select item 16786229.	NM_000345.4(SNCA):c.89C>G (p.Ala30Gly) GRCh37: Chr4:90756730 GRCh38: Chr4:89835579	SNCA	A30G	Autosomal dominant Parkinson disease 4, Lewy body dementia, Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1	Conflicting interpretations of pathogenicity (Feb 19, 2022)	criteria provided, conflicting interpretations
Select item 167083310.	NM_000345.4(SNCA):c.246G>A (p.Val82=) GRCh37: Chr4:90743457 GRCh38: Chr4:89822306	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Mar 30, 2021)	criteria provided, single submitter
Select item 165700011.	NM_000345.4(SNCA):c.391-16A>G GRCh37: Chr4:90647827 GRCh38: Chr4:89726676	SNCA		Autosomal dominant Parkinson disease 4, Lewy body dementia, Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 165492712.	NM_000345.4(SNCA):c.121+13C>T GRCh37: Chr4:90756685 GRCh38: Chr4:89835534	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 159041413.	NM_000345.4(SNCA):c.306+8T>C GRCh37: Chr4:90743389 GRCh38: Chr4:89822238	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 155361114.	NM_000345.4(SNCA):c.390+11A>C GRCh37: Chr4:90650334 GRCh38: Chr4:89729183	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Jul 20, 2021)	criteria provided, single submitter
Select item 152443815.	NM_000345.4(SNCA):c.359C>T (p.Pro120Leu) GRCh37: Chr4:90650376 GRCh38: Chr4:89729225	SNCA	P72L, P120L	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 150911816.	NM_000345.4(SNCA):c.247G>C (p.Glu83Gln) GRCh37: Chr4:90743456 GRCh38: Chr4:89822305	SNCA	E83Q	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 147209217.	NM_000345.4(SNCA):c.391-7A>G GRCh37: Chr4:90647818 GRCh38: Chr4:89726667	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 145489818.	NC_000004.11:g.(?_90647779)_(90756818_?)dup GRCh37: Chr4:90647779-90756818	SNCA		Autosomal dominant Parkinson disease 1, Lewy body dementia	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 139353019.	NM_000345.4(SNCA):c.158C>T (p.Ala53Val) GRCh37: Chr4:90749299 GRCh38: Chr4:89828148	SNCA	A53V	not provided, Autosomal dominant Parkinson disease 1, Lewy body dementia	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138886420.	NM_000345.4(SNCA):c.163+6C>A GRCh37: Chr4:90749288 GRCh38: Chr4:89828137	SNCA		Autosomal dominant Parkinson disease 1, Lewy body dementia	Uncertain significance (Apr 18, 2021)	criteria provided, single submitter
Select item 137347421.	NM_000345.4(SNCA):c.122-2A>C GRCh37: Chr4:90749337 GRCh38: Chr4:89828186	SNCA		Autosomal dominant Parkinson disease 1, Lewy body dementia	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 137280722.	NC_000004.11:g.(?_90647315)_(90756828_?)del GRCh37: Chr4:90647315-90756828	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 133989423.	GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3 GRCh37: Chr4:90647779-90756863	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	not provided	no assertion provided
Select item 114710924.	NM_000345.4(SNCA):c.306+7C>T GRCh37: Chr4:90743390 GRCh38: Chr4:89822239	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Jan 2, 2021)	criteria provided, single submitter
Select item 105184725.	NM_000345.4(SNCA):c.71A>G (p.Gln24Arg) GRCh37: Chr4:90756748 GRCh38: Chr4:89835597	SNCA	Q24R	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 102072826.	NM_000345.4(SNCA):c.*464C>A GRCh37: Chr4:90647315 GRCh38: Chr4:89726164	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 100995227.	NM_000345.4(SNCA):c.47T>C (p.Val16Ala) GRCh37: Chr4:90756772 GRCh38: Chr4:89835621	SNCA	V16A	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 100363628.	NM_000345.4(SNCA):c.100A>G (p.Lys34Glu) GRCh37: Chr4:90756719 GRCh38: Chr4:89835568	SNCA	K34E	Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 90754529.	NM_000345.4(SNCA):c.*77C>A GRCh37: Chr4:90647702 GRCh38: Chr4:89726551	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 4, Autosomal dominant Parkinson disease 1, Parkinson Disease, Dominant	Likely benign (Sep 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90421030.	NM_000345.4(SNCA):c.121+11C>T GRCh37: Chr4:90756687 GRCh38: Chr4:89835536	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 4, Autosomal dominant Parkinson disease 1, Parkinson Disease, Dominant	Benign/Likely benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87274731.	NM_000345.4(SNCA):c.225A>T (p.Thr75=) GRCh37: Chr4:90743478 GRCh38: Chr4:89822327	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1, not provided	Conflicting interpretations of pathogenicity (Aug 2, 2021)	criteria provided, conflicting interpretations
Select item 87110132.	NM_000345.4(SNCA):c.44T>C (p.Val15Ala) GRCh37: Chr4:90756775 GRCh38: Chr4:89835624	SNCA	V15A	not provided	Uncertain significance (Nov 1, 2019)	criteria provided, single submitter
Select item 77234533.	NM_000345.4(SNCA):c.156G>T (p.Val52=) GRCh37: Chr4:90749301 GRCh38: Chr4:89828150	SNCA		Autosomal dominant Parkinson disease 1, Lewy body dementia	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 76754234.	NM_000345.4(SNCA):c.147G>A (p.Val49=) GRCh37: Chr4:90749310 GRCh38: Chr4:89828159	SNCA		Autosomal dominant Parkinson disease 1, Lewy body dementia	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 76364635.	NM_000345.4(SNCA):c.163+7T>G GRCh37: Chr4:90749287 GRCh38: Chr4:89828136	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Likely benign (Jul 24, 2018)	criteria provided, single submitter
Select item 70592536.	NM_000345.4(SNCA):c.216G>A (p.Thr72=) GRCh37: Chr4:90743487 GRCh38: Chr4:89822336	SNCA		Parkinson Disease, Dominant, Autosomal dominant Parkinson disease 1, Lewy body dementia, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 70452737.	NM_000345.4(SNCA):c.287A>G (p.Lys96Arg) GRCh37: Chr4:90743416 GRCh38: Chr4:89822265	SNCA	K96R	Parkinson Disease, Dominant, Lewy body dementia, Autosomal dominant Parkinson disease 1	Benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65269438.	NM_000345.4(SNCA):c.349C>A (p.Pro117Thr) GRCh37: Chr4:90650386 GRCh38: Chr4:89729235	SNCA	P117T, P69T	Lewy body dementia, Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4, Lewy body dementia, Autosomal dominant Parkinson disease 1	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63937239.	NC_000004.11:g.(?_90647315)_(90756828_?)dup GRCh37: Chr4:90647315-90756828 GRCh38: Chr4:89726164-89835677	SNCA		Autosomal dominant Parkinson disease 1, Lewy body dementia	Pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 53184640.	NC_000004.11:g.(?_90647315)_(90756838_?)dup GRCh37: Chr4:90647315-90756838 GRCh38: Chr4:89726164-89835687	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1	Pathogenic (May 12, 2018)	criteria provided, single submitter
Select item 35010641.	NM_000345.4(SNCA):c.243A>G (p.Thr81=) GRCh37: Chr4:90743460 GRCh38: Chr4:89822309	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4, Lewy body dementia, Autosomal dominant Parkinson disease 1, Parkinson Disease, Dominant	Benign/Likely benign (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35010542.	NM_000345.4(SNCA):c.298T>C (p.Leu100=) GRCh37: Chr4:90743405 GRCh38: Chr4:89822254	SNCA		Parkinson Disease, Dominant, Lewy body dementia, Autosomal dominant Parkinson disease 1	Conflicting interpretations of pathogenicity (Mar 3, 2022)	criteria provided, conflicting interpretations
Select item 35010443.	NM_000345.4(SNCA):c.408C>T (p.Tyr136=) GRCh37: Chr4:90647794 GRCh38: Chr4:89726643	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1, Parkinson Disease, Dominant, Lewy body dementia, Autosomal dominant Parkinson disease 4, Autosomal dominant Parkinson disease 1, not provided	Benign/Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35010344.	NM_000345.4(SNCA):c.*139T>G GRCh37: Chr4:90647640 GRCh38: Chr4:89726489	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4, Parkinson Disease, Dominant, not provided	Benign/Likely benign (Sep 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35009845.	NM_000345.4(SNCA):c.*501C>T GRCh37: Chr4:90647278 GRCh38: Chr4:89726127	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1, Parkinson Disease, Dominant	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16209546.	NM_000345.4(SNCA):c.150T>G (p.His50Gln) GRCh37: Chr4:90749307 GRCh38: Chr4:89828156	SNCA	H50Q	Parkinson Disease, Dominant, Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 4, not provided	Uncertain significance (Mar 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9700047.	NM_000345.4(SNCA):c.152G>A (p.Gly51Asp) GRCh37: Chr4:90749305 GRCh38: Chr4:89828154	SNCA	G51D	Autosomal dominant Parkinson disease 1	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 1401148.	NC_000004.12:g.(?_89724098)_(89927969_89934809)dup GRCh38: Chr4:89724098-89934809	LOC129389225, MMRN1, SNCA, SNCA-AS1		Autosomal dominant Parkinson disease 1, Lewy body dementia	Pathogenic (Oct 14, 2008)	no assertion criteria provided
Select item 1401049.	NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) GRCh37: Chr4:90749321 GRCh38: Chr4:89828170	SNCA	E46K	Autosomal dominant Parkinson disease 1, Lewy body dementia	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 1400850.	NM_000345.4(SNCA):c.88G>C (p.Ala30Pro) GRCh37: Chr4:90756731 GRCh38: Chr4:89835580	SNCA	A30P	Autosomal dominant Parkinson disease 1	Likely pathogenic (Nov 20, 2020)	criteria provided, single submitter
Select item 1400751.	NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) GRCh37: Chr4:90749300 GRCh38: Chr4:89828149	SNCA	A53T	Autosomal dominant Parkinson disease 1, Lewy body dementia	Pathogenic (Sep 1, 2021)	criteria provided, single submitter

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Items: 51