11139[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
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 907792	NM_005460.4(SNCAIP):c.-54C>A	SNCAIP	Single nucleotide variant (5 prime UTR 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 907793	NM_005460.4(SNCAIP):c.-48G>A	SNCAIP	Single nucleotide variant (5 prime UTR variant)	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 907794	NM_005460.4(SNCAIP):c.-46-6G>A	SNCAIP	Single nucleotide variant (intron variant)	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 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 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 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 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 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 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 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 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 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 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 730679	NM_005460.4(SNCAIP):c.217T>C (p.Phe73Leu)	SNCAIP (F120L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 753378	NM_005460.4(SNCAIP):c.240G>A (p.Ser80=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 762137	NM_005460.4(SNCAIP):c.438C>T (p.Tyr146=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	not provided	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 720647	NM_005460.4(SNCAIP):c.576C>T (p.Cys192=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3321157	NM_005460.4(SNCAIP):c.598T>C (p.Ser200Pro)	SNCAIP (S200P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 762139	NM_005460.4(SNCAIP):c.951A>G (p.Lys317=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 906850	NM_005460.4(SNCAIP):c.1002+7A>G	SNCAIP	Single nucleotide variant (intron variant)	Parkinson Disease, Dominant/Recessive	GUncertain significance
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 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 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 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 2655657	NM_005460.4(SNCAIP):c.1170C>A (p.Gly390=)	SNCAIP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 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 907841	NM_005460.4(SNCAIP):c.1297-3T>C	SNCAIP, MGC32805	Single nucleotide variant (intron variant)	Parkinson Disease, Dominant/Recessive	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 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 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 733520	NM_005460.4(SNCAIP):c.1491C>T (p.Ala497=)	MGC32805, SNCAIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 3321160	NM_005460.4(SNCAIP):c.1571A>G (p.Lys524Arg)	MGC32805, SNCAIP (K158R +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 736050	NM_005460.4(SNCAIP):c.1661G>A (p.Gly554Asp)	MGC32805, SNCAIP (G150D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 711930	NM_005460.4(SNCAIP):c.1725A>G (p.Lys575=)	MGC32805, SNCAIP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 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 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

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