ClinVar for MedGen (Select 381361) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16786221.	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 16570002.	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 9075453.	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 9042104.	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 6526945.	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 3501066.	NM_000345.4(SNCA):c.243A>G (p.Thr81=) GRCh37: Chr4:90743460 GRCh38: Chr4:89822309	SNCA		Parkinson Disease, Dominant, Lewy body dementia, Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4, Lewy body dementia, Autosomal dominant Parkinson disease 1	Benign/Likely benign (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3501047.	NM_000345.4(SNCA):c.408C>T (p.Tyr136=) GRCh37: Chr4:90647794 GRCh38: Chr4:89726643	SNCA		Lewy body dementia, Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4, Parkinson Disease, Dominant, not provided, Lewy body dementia, Autosomal dominant Parkinson disease 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3501038.	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 1620959.	NM_000345.4(SNCA):c.150T>G (p.His50Gln) GRCh37: Chr4:90749307 GRCh38: Chr4:89828156	SNCA	H50Q	Lewy body dementia, Autosomal dominant Parkinson disease 1, Parkinson Disease, Dominant, Lewy body dementia, Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4, not provided	Uncertain significance (Mar 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1400910.	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3 GRCh38: Chr4:88268907-90128499	MMRN1, NAP1L5, PIGY, PIGY-DT, PPM1K, FAM13A-AS1, GPRIN3, PPM1K-DT, PYURF, HERC3, HERC5, SNCA, SNCA-AS1, HERC6, LOC110121083, LOC111365205, TIGD2, LOC123477786, LOC126807107, LOC126807108, LOC126807109, CCSER1, FAM13A		Autosomal dominant Parkinson disease 4	Pathogenic (Mar 20, 2007)	no assertion criteria provided