ClinVar for MedGen (Select 381361) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1678622	NM_000345.4(SNCA):c.89C>G (p.Ala30Gly)	SNCA (A30G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 4 +2 more	GConflicting classifications of pathogenicity
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 907545	NM_000345.4(SNCA):c.*77C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Lewy body dementia +4 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 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 4 +2 more	GUncertain significance
Select item 350106	NM_000345.4(SNCA):c.243A>G (p.Thr81=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Lewy body dementia +3 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 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 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 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic
Select item 14007	NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)	SNCA (A53T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 4 +2 more	GPathogenic