ClinVar for MedGen (Select 893635) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 907914	NM_005460.4(SNCAIP):c.*591A>T	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907913	NM_005460.4(SNCAIP):c.*498A>G	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907912	NM_005460.4(SNCAIP):c.*343A>G	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907911	NM_005460.4(SNCAIP):c.*287G>A	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907910	NM_005460.4(SNCAIP):c.*253T>A	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 907845	NM_005460.4(SNCAIP):c.1817G>A (p.Arg606Gln)	MGC32805, SNCAIP (R202Q +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907844	NM_005460.4(SNCAIP):c.1811C>G (p.Ser604Cys)	MGC32805, SNCAIP (S544C +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907843	NM_005460.4(SNCAIP):c.1496G>A (p.Arg499Gln)	MGC32805, SNCAIP (R131Q +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907842	NM_005460.4(SNCAIP):c.1448T>C (p.Val483Ala)	MGC32805, SNCAIP (V79A +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907841	NM_005460.4(SNCAIP):c.1297-3T>C	SNCAIP, MGC32805	Single nucleotide variant (intron variant)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907840	NM_005460.4(SNCAIP):c.1206C>T (p.Arg402=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907795	NM_005460.4(SNCAIP):c.-26G>A	SNCAIP	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 907794	NM_005460.4(SNCAIP):c.-46-6G>A	SNCAIP	Single nucleotide variant (intron variant)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907793	NM_005460.4(SNCAIP):c.-48G>A	SNCAIP	Single nucleotide variant (5 prime UTR variant)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 907792	NM_005460.4(SNCAIP):c.-54C>A	SNCAIP	Single nucleotide variant (5 prime UTR variant)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 906929	NM_005460.4(SNCAIP):c.*247G>A	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 906928	NM_005460.4(SNCAIP):c.*161A>G	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 906927	NM_005460.4(SNCAIP):c.*103C>T	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive +1 more	GLikely benign
Select item 906851	NM_005460.4(SNCAIP):c.1087G>A (p.Ala363Thr)	SNCAIP (A410T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 906850	NM_005460.4(SNCAIP):c.1002+7A>G	SNCAIP	Single nucleotide variant (intron variant)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 906849	NM_005460.4(SNCAIP):c.1002+2T>C	SNCAIP	Single nucleotide variant (splice donor variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 906848	NM_005460.4(SNCAIP):c.806G>A (p.Arg269Gln)	SNCAIP (R269Q +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 906847	NM_005460.4(SNCAIP):c.709G>A (p.Glu237Lys)	SNCAIP (E237K +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 905322	NM_005460.4(SNCAIP):c.2729C>A (p.Ser910Tyr)	SNCAIP, MGC32805 (S506Y +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 905321	NM_005460.4(SNCAIP):c.2685C>T (p.Thr895=)	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 905320	NM_005460.4(SNCAIP):c.2618G>A (p.Gly873Asp)	MGC32805, SNCAIP (G507D +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 905319	NM_005460.4(SNCAIP):c.2556A>G (p.Glu852=)	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 905318	NM_005460.4(SNCAIP):c.2291C>T (p.Pro764Leu)	MGC32805, SNCAIP (P396L +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 905317	NM_005460.4(SNCAIP):c.2191C>T (p.Arg731Cys)	MGC32805, SNCAIP (R778C +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 905253	NM_005460.4(SNCAIP):c.417G>A (p.Ser139=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GBenign
Select item 904533	NM_005460.4(SNCAIP):c.1939G>C (p.Ala647Pro)	MGC32805, SNCAIP (A243P +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 904473	NM_005460.4(SNCAIP):c.388C>T (p.Pro130Ser)	SNCAIP (P130S +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 904472	NM_005460.4(SNCAIP):c.292A>G (p.Lys98Glu)	SNCAIP (K98E +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 904471	NM_005460.4(SNCAIP):c.258A>G (p.Pro86=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 904470	NM_005460.4(SNCAIP):c.198C>T (p.Ile66=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 904469	NM_005460.4(SNCAIP):c.137G>A (p.Ser46Asn)	SNCAIP (S46N +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 784627	NM_005460.4(SNCAIP):c.111G>A (p.Thr37=)	SNCAIP (R22H +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive +1 more	GLikely benign
Select item 350511	NM_005460.4(SNCAIP):c.*574dup	MGC32805, SNCAIP	Duplication (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 350510	NM_005460.4(SNCAIP):c.*314T>C	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GBenign
Select item 350509	NM_005460.4(SNCAIP):c.*202A>T	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350508	NM_005460.4(SNCAIP):c.*170A>G	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350507	NM_005460.4(SNCAIP):c.*102A>G	MGC32805, SNCAIP	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive +1 more	GLikely benign
Select item 350506	NM_005460.4(SNCAIP):c.*70C>G	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GBenign
Select item 350505	NM_005460.4(SNCAIP):c.*46T>G	MGC32805, SNCAIP (I593M +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive +1 more	GLikely benign
Select item 350504	NM_005460.4(SNCAIP):c.2736C>G (p.Ser912Arg)	MGC32805, SNCAIP (S912R +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350503	NM_005460.4(SNCAIP):c.2710A>G (p.Lys904Glu)	MGC32805, SNCAIP (K904E +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350502	NM_005460.4(SNCAIP):c.2417G>A (p.Arg806His)	MGC32805, SNCAIP (R806H +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive +1 more	GBenign
Select item 350501	NM_005460.4(SNCAIP):c.2148C>T (p.Ser716=)	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 350500	NM_005460.4(SNCAIP):c.2140G>A (p.Ala714Thr)	MGC32805, SNCAIP (A714T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 350499	NM_005460.4(SNCAIP):c.2131A>G (p.Met711Val)	MGC32805, SNCAIP (M711V +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive +1 more	GBenign
Select item 350498	NM_005460.4(SNCAIP):c.2125G>C (p.Glu709Gln)	MGC32805, SNCAIP (E709Q +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive +2 more	GBenign/Likely benign
Select item 350497	NM_005460.4(SNCAIP):c.2022A>G (p.Ser674=)	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350496	NM_005460.4(SNCAIP):c.1969C>T (p.Leu657=)	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350495	NM_005460.4(SNCAIP):c.1510C>T (p.Leu504=)	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 350494	NM_005460.4(SNCAIP):c.1218C>T (p.Ser406=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive +1 more	GBenign
Select item 350493	NM_005460.4(SNCAIP):c.1134C>T (p.Leu378=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive +1 more	GBenign
Select item 350492	NM_005460.4(SNCAIP):c.786A>C (p.Thr262=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350491	NM_005460.4(SNCAIP):c.708C>T (p.Thr236=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 350490	NM_005460.4(SNCAIP):c.688A>G (p.Lys230Glu)	SNCAIP (K230E +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350489	NM_005460.4(SNCAIP):c.672C>T (p.Val224=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 350488	NM_005460.4(SNCAIP):c.665C>T (p.Ser222Leu)	SNCAIP (S222L +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive +1 more	GLikely benign
Select item 350487	NM_005460.4(SNCAIP):c.636C>T (p.Pro212=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive +1 more	GBenign/Likely benign
Select item 350486	NM_005460.4(SNCAIP):c.608A>G (p.Asn203Ser)	SNCAIP (N203S +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive	GLikely benign
Select item 350485	NM_005460.4(SNCAIP):c.444C>T (p.Leu148=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive +1 more	GUncertain significance
Select item 350484	NM_005460.4(SNCAIP):c.429G>A (p.Leu143=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350483	NM_005460.4(SNCAIP):c.204T>C (p.Asp68=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350482	NM_005460.4(SNCAIP):c.81G>A (p.Thr27=)	SNCAIP (R12Q +1 more)	Single nucleotide variant (missense variant +2 more)	Parkinson Disease, Dominant/Recessive +1 more	GBenign
Select item 350481	NM_005460.4(SNCAIP):c.-13G>T	SNCAIP	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350480	NM_005460.4(SNCAIP):c.-47+3G>A	SNCAIP	Single nucleotide variant (intron variant)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 350479	NM_005460.4(SNCAIP):c.-49C>G	SNCAIP	Single nucleotide variant (5 prime UTR variant)	Parkinson Disease, Dominant/Recessive	GBenign
Select item 350478	NM_005460.4(SNCAIP):c.-66C>T	SNCAIP	Single nucleotide variant (5 prime UTR variant)	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 331671	NM_006186.3(NR4A2):c.-387A>T	NR4A2	Single nucleotide variant	Parkinson Disease, Dominant/Recessive	GUncertain significance
Select item 331653	NM_006186.4(NR4A2):c.*400CA[9]	NR4A2	Microsatellite (3 prime UTR variant)	Parkinson Disease, Dominant/Recessive	GBenign
Select item 331652	NM_006186.4(NR4A2):c.659_661del	NR4A2	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6078	NM_005460.4(SNCAIP):c.1861C>T (p.Arg621Cys)	MGC32805, SNCAIP (R621C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign

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Items: 75