"Ambry Genetics"[submitter] AND "SNCAIP"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 906851	NM_005460.4(SNCAIP):c.1087G>A (p.Ala363Thr)	SNCAIP (A410T +2 more)	Single nucleotide variant (intron variant +2 more)	not specified +1 more	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 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 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 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 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 2601676	NM_005460.4(SNCAIP):c.1381G>A (p.Val461Ile)	MGC32805, SNCAIP (V508I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 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 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 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 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 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 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 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 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 350500	NM_005460.4(SNCAIP):c.2140G>A (p.Ala714Thr)	MGC32805, SNCAIP (A714T +6 more)	Single nucleotide variant (missense variant +1 more)	Parkinson Disease, Dominant/Recessive +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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

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Items: 55