ClinVar for Gene (Select 9627) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166952	NM_005460.4(SNCAIP):c.421G>C (p.Gly141Arg)	SNCAIP (G141R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166951	NM_005460.4(SNCAIP):c.409A>G (p.Ser137Gly)	SNCAIP (S137G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166950	NM_005460.4(SNCAIP):c.341G>A (p.Gly114Asp)	SNCAIP (G161D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166949	NM_005460.4(SNCAIP):c.298C>A (p.Gln100Lys)	SNCAIP (Q147K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166948	NM_005460.4(SNCAIP):c.2482C>G (p.Pro828Ala)	MGC32805, SNCAIP (P460A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166946	NM_005460.4(SNCAIP):c.2297C>T (p.Ser766Leu)	MGC32805, SNCAIP (S362L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166945	NM_005460.4(SNCAIP):c.157A>G (p.Ile53Val)	SNCAIP (I53V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3166944	NM_005460.4(SNCAIP):c.150T>A (p.Asn50Lys)	SNCAIP (N50K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166943	NM_005460.4(SNCAIP):c.1400A>G (p.His467Arg)	MGC32805, SNCAIP (H161R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166942	NM_005460.4(SNCAIP):c.1358T>C (p.Val453Ala)	MGC32805, SNCAIP (V393A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166941	NM_005460.4(SNCAIP):c.1232T>C (p.Ile411Thr)	SNCAIP (I351T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166940	NM_005460.4(SNCAIP):c.122A>G (p.Asp41Gly)	SNCAIP (D41G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166939	NM_005460.4(SNCAIP):c.1118T>C (p.Met373Thr)	SNCAIP (M67T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2685169	GRCh37/hg19 5q23.1-23.2(chr5:119452524-121673870)x1	FTMT, LOX +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 2655657	NM_005460.4(SNCAIP):c.1170C>A (p.Gly390=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2655656	NM_005460.4(SNCAIP):c.1073C>T (p.Ala358Val)	SNCAIP (A358V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2619007	NM_005460.4(SNCAIP):c.302A>G (p.Lys101Arg)	SNCAIP (K101R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613111	NM_005460.4(SNCAIP):c.974T>C (p.Ile325Thr)	SNCAIP (I325T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601676	NM_005460.4(SNCAIP):c.1381G>A (p.Val461Ile)	MGC32805, SNCAIP (V508I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2598075	NM_005460.4(SNCAIP):c.382G>A (p.Gly128Ser)	SNCAIP (G175S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593983	NM_005460.4(SNCAIP):c.781A>C (p.Lys261Gln)	SNCAIP (K261Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590935	NM_005460.4(SNCAIP):c.1816C>T (p.Arg606Trp)	MGC32805, SNCAIP (R653W +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553056	NM_005460.4(SNCAIP):c.1642G>A (p.Glu548Lys)	MGC32805, SNCAIP (E182K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542727	NM_005460.4(SNCAIP):c.261G>T (p.Glu87Asp)	SNCAIP (E134D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541709	NM_005460.4(SNCAIP):c.2006A>C (p.Gln669Pro)	MGC32805, SNCAIP (Q301P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537492	NM_005460.4(SNCAIP):c.44G>A (p.Ser15Asn)	SNCAIP (S15N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2518819	NM_005460.4(SNCAIP):c.2731G>A (p.Ala911Thr)	MGC32805, SNCAIP (A545T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2511580	NM_005460.4(SNCAIP):c.190A>T (p.Thr64Ser)	SNCAIP (T111S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509733	NM_005460.4(SNCAIP):c.2324C>T (p.Ser775Phe)	MGC32805, SNCAIP (S407F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485754	NM_005460.4(SNCAIP):c.616C>T (p.Pro206Ser)	SNCAIP (P206S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475132	NM_005460.4(SNCAIP):c.286G>A (p.Asp96Asn)	SNCAIP (D143N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470705	NM_005460.4(SNCAIP):c.947T>C (p.Leu316Pro)	SNCAIP (L316P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455209	NM_005460.4(SNCAIP):c.110C>T (p.Thr37Met)	SNCAIP (R20C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403565	NM_005460.4(SNCAIP):c.98G>A (p.Arg33Gln)	SNCAIP (E16K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382154	NM_005460.4(SNCAIP):c.1724A>C (p.Lys575Thr)	MGC32805, SNCAIP (K209T +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2374585	NM_005460.4(SNCAIP):c.1465G>A (p.Ala489Thr)	MGC32805, SNCAIP (A121T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374236	NM_005460.4(SNCAIP):c.1862G>A (p.Arg621His)	MGC32805, SNCAIP (R253H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370595	NM_005460.4(SNCAIP):c.908G>A (p.Arg303Gln)	SNCAIP (R303Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358810	NM_005460.4(SNCAIP):c.2536C>T (p.Arg846Trp)	MGC32805, SNCAIP (R442W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355748	NM_005460.4(SNCAIP):c.785C>T (p.Thr262Ile)	SNCAIP (T309I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347030	NM_005460.4(SNCAIP):c.2395C>T (p.Leu799Phe)	MGC32805, SNCAIP (L739F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314240	NM_005460.4(SNCAIP):c.800A>G (p.His267Arg)	SNCAIP (H267R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303537	NM_005460.4(SNCAIP):c.730A>G (p.Lys244Glu)	SNCAIP (K291E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291083	NM_005460.4(SNCAIP):c.1175C>G (p.Ala392Gly)	SNCAIP (A86G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279145	NM_005460.4(SNCAIP):c.1298A>G (p.Glu433Gly)	MGC32805, SNCAIP (E67G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277928	NM_005460.4(SNCAIP):c.1913T>C (p.Leu638Pro)	MGC32805, SNCAIP (L638P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277017	NM_005460.4(SNCAIP):c.2176T>A (p.Leu726Met)	MGC32805, SNCAIP (L358M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275733	NM_005460.4(SNCAIP):c.2148C>G (p.Ser716Arg)	MGC32805, SNCAIP (S312R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265968	NM_005460.4(SNCAIP):c.853C>G (p.Leu285Val)	SNCAIP (L285V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249356	NM_005460.4(SNCAIP):c.272A>G (p.Asn91Ser)	SNCAIP (N91S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246460	NM_005460.4(SNCAIP):c.2158A>C (p.Met720Leu)	MGC32805, SNCAIP (M660L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242693	NM_005460.4(SNCAIP):c.2713G>A (p.Gly905Arg)	MGC32805, SNCAIP (G539R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233119	NM_005460.4(SNCAIP):c.2087C>T (p.Ala696Val)	MGC32805, SNCAIP (A292V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227765	NM_005460.4(SNCAIP):c.2594G>A (p.Arg865Gln)	MGC32805, SNCAIP (R497Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223970	NM_005460.4(SNCAIP):c.2588C>G (p.Ala863Gly)	MGC32805, SNCAIP (A803G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211214	NM_005460.4(SNCAIP):c.788T>G (p.Phe263Cys)	SNCAIP (F263C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1809260	GRCh37/hg19 5q23.2(chr5:121581144-121713088)x1	SNCAIP	Copy number loss	not provided	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1240005	dup(5)(q23.2q23.2)	LINC02201, LOC101927357 +6 more	Duplication	Lower urinary tract obstruction, congenital	GUncertain significance
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	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)	Parkinson Disease, Dominant/Recessive +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 814741	GRCh37/hg19 5q23.2(chr5:121666151-121748939)x1	SNCAIP	Copy number loss	not provided	GUncertain significance
Select item 798597	NM_005460.4(SNCAIP):c.2265C>T (p.Ser755=)	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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