ClinVar for Gene (Select 4842) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300393	NM_000620.5(NOS1):c.782T>C (p.Val261Ala)	NOS1 (V261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300392	NM_000620.5(NOS1):c.490G>A (p.Asp164Asn)	NOS1 (D164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300391	NM_000620.5(NOS1):c.2705A>G (p.His902Arg)	NOS1 (H902R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300390	NM_000620.5(NOS1):c.2899C>T (p.Arg967Cys)	NOS1 (R1001C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300389	NM_000620.5(NOS1):c.1597G>A (p.Gly533Ser)	NOS1 (G533S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300388	NM_000620.5(NOS1):c.2534G>A (p.Ser845Asn)	NOS1 (S509N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300387	NM_000620.5(NOS1):c.3491C>T (p.Pro1164Leu)	NOS1 (P1198L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300385	NM_000620.5(NOS1):c.2532-2255C>T	NOS1 (R854C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300384	NM_000620.5(NOS1):c.1417G>A (p.Gly473Ser)	NOS1 (G137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300383	NM_000620.5(NOS1):c.335C>T (p.Thr112Ile)	NOS1 (T112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201291	NM_000620.5(NOS1):c.904T>C (p.Cys302Arg)	NOS1 (C302R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201290	NM_000620.5(NOS1):c.769G>C (p.Glu257Gln)	NOS1 (E257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201289	NM_000620.5(NOS1):c.647T>C (p.Leu216Pro)	NOS1 (L216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201288	NM_000620.5(NOS1):c.520C>G (p.His174Asp)	NOS1 (H174D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201287	NM_000620.5(NOS1):c.4262T>C (p.Ile1421Thr)	NOS1 (I1421T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201286	NM_000620.5(NOS1):c.4234C>T (p.Arg1412Cys)	NOS1 (R1446C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201285	NM_000620.5(NOS1):c.4147G>A (p.Gly1383Ser)	NOS1 (G1047S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201283	NM_000620.5(NOS1):c.3769G>A (p.Gly1257Ser)	NOS1 (G1257S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201282	NM_000620.5(NOS1):c.3637C>T (p.His1213Tyr)	LOC129390567, NOS1 (H1213Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201281	NM_000620.5(NOS1):c.3058G>A (p.Val1020Met)	NOS1 (V1020M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201280	NM_000620.5(NOS1):c.2972A>G (p.Asn991Ser)	NOS1 (N991S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201279	NM_000620.5(NOS1):c.2532-2218T>A	NOS1 (V866D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201278	NM_000620.5(NOS1):c.2278G>A (p.Ala760Thr)	NOS1 (A424T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201277	NM_000620.5(NOS1):c.1877C>T (p.Thr626Met)	NOS1 (T626M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201276	NM_000620.5(NOS1):c.154G>A (p.Ala52Thr)	NOS1 (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201275	NM_000620.5(NOS1):c.1514A>C (p.Gln505Pro)	NOS1 (Q169P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201274	NM_000620.5(NOS1):c.143G>A (p.Arg48His)	NOS1 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201273	NM_000620.5(NOS1):c.1061G>A (p.Arg354His)	NOS1 (R18H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 3061017	NM_000620.5(NOS1):c.3258C>T (p.Asp1086=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 3060800	NM_000620.5(NOS1):c.2706C>T (p.His902=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 3060480	NM_000620.5(NOS1):c.2202T>C (p.Ile734=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 3059998	NM_000620.5(NOS1):c.4059C>A (p.Val1353=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 3059601	NM_000620.5(NOS1):c.2532-2258C>T	NOS1 (P853S)	Single nucleotide variant (missense variant +1 more)	NOS1-related disorder	GBenign
Select item 3058237	NM_000620.5(NOS1):c.2154G>A (p.Thr718=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 3055936	NM_000620.5(NOS1):c.2601C>T (p.Pro867=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 3053861	NM_000620.5(NOS1):c.2532-2256C>A	NOS1	Single nucleotide variant (synonymous variant +1 more)	NOS1-related disorder	GBenign
Select item 3052307	NM_000620.5(NOS1):c.2661T>C (p.Phe887=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 3050294	NM_000620.5(NOS1):c.4057G>A (p.Val1353Ile)	NOS1 (V1017I +2 more)	Single nucleotide variant (missense variant)	NOS1-related disorder	GLikely benign
Select item 3049236	NM_000620.5(NOS1):c.1596C>T (p.Asn532=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 3048233	NM_000620.5(NOS1):c.987G>A (p.Thr329=)	NOS1	Single nucleotide variant (synonymous variant +1 more)	NOS1-related disorder	GLikely benign
Select item 3047601	NM_000620.5(NOS1):c.432A>G (p.Glu144=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 3047236	NM_000620.5(NOS1):c.3225C>T (p.Asn1075=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 3039557	NM_000620.5(NOS1):c.2532-2233A>G	NOS1 (N861S)	Single nucleotide variant (missense variant +1 more)	NOS1-related disorder	GBenign
Select item 3034912	NM_000620.5(NOS1):c.3159C>T (p.Ile1053=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 3034810	NM_000620.5(NOS1):c.559C>T (p.Pro187Ser)	NOS1 (P187S)	Single nucleotide variant (missense variant)	NOS1-related disorder	GLikely benign
Select item 3033399	NM_000620.5(NOS1):c.*8C>T	NOS1	Single nucleotide variant (3 prime UTR variant)	NOS1-related disorder	GBenign
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 2643377	NM_000620.5(NOS1):c.1425C>T (p.His475=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643376	NM_000620.5(NOS1):c.2479G>A (p.Gly827Ser)	NOS1 (G491S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643375	NM_000620.5(NOS1):c.3048A>C (p.Ser1016=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643374	NM_000620.5(NOS1):c.4287T>C (p.Asp1429=)	NOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615140	NM_000620.5(NOS1):c.599G>C (p.Gly200Ala)	NOS1 (G200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611389	NM_000620.5(NOS1):c.1339A>T (p.Ile447Phe)	NOS1 (I111F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608208	NM_000620.5(NOS1):c.899C>T (p.Ser300Phe)	NOS1 (S300F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598708	NM_000620.5(NOS1):c.397G>A (p.Val133Met)	NOS1 (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595935	NM_000620.5(NOS1):c.2863A>G (p.Ile955Val)	NOS1 (I619V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590182	NM_000620.5(NOS1):c.2596G>A (p.Gly866Arg)	NOS1 (G900R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570851	NM_000620.5(NOS1):c.784T>G (p.Phe262Val)	NOS1 (F262V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2546500	NM_000620.5(NOS1):c.804G>T (p.Lys268Asn)	NOS1 (K268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533386	NM_000620.5(NOS1):c.4291G>A (p.Val1431Ile)	NOS1 (V1431I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530574	NM_000620.5(NOS1):c.2532-2278C>T	NOS1 (P846L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525476	NM_000620.5(NOS1):c.1416C>G (p.Asp472Glu)	NOS1 (D136E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521620	NM_000620.5(NOS1):c.3676G>A (p.Asp1226Asn)	LOC129390567, NOS1 (D1226N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519833	NM_000620.5(NOS1):c.334A>G (p.Thr112Ala)	NOS1 (T112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492569	NM_000620.5(NOS1):c.485C>T (p.Ala162Val)	NOS1 (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491627	NM_000620.5(NOS1):c.2064G>A (p.Met688Ile)	NOS1 (M352I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466113	NM_000620.5(NOS1):c.788A>G (p.Asn263Ser)	NOS1 (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462273	NM_000620.5(NOS1):c.294G>C (p.Arg98Ser)	NOS1 (R98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459330	NM_000620.5(NOS1):c.3061C>T (p.Arg1021Cys)	NOS1 (R1055C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399302	NM_000620.5(NOS1):c.56G>A (p.Arg19His)	NOS1 (R19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395714	NM_000620.5(NOS1):c.19G>A (p.Gly7Ser)	NOS1 (G7S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386757	NM_000620.5(NOS1):c.2021G>A (p.Arg674Gln)	NOS1 (R674Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375825	NM_000620.5(NOS1):c.3608G>A (p.Arg1203His)	NOS1 (R1203H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373643	NM_000620.5(NOS1):c.110G>A (p.Ser37Asn)	NOS1 (S37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370227	NM_000620.5(NOS1):c.766G>A (p.Val256Met)	NOS1 (V256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350629	NM_000620.5(NOS1):c.3164G>A (p.Arg1055Gln)	NOS1 (R1089Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349996	NM_000620.5(NOS1):c.659G>A (p.Ser220Asn)	NOS1 (S220N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342071	NM_000620.5(NOS1):c.820G>A (p.Val274Ile)	NOS1 (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337512	NM_000620.5(NOS1):c.599G>A (p.Gly200Glu)	NOS1 (G200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315121	NM_000620.5(NOS1):c.829A>G (p.Asn277Asp)	NOS1 (N277D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297665	NM_000620.5(NOS1):c.911G>A (p.Arg304His)	NOS1 (R304H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294418	NM_000620.5(NOS1):c.341A>T (p.Asp114Val)	NOS1 (D114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293537	NM_000620.5(NOS1):c.2101C>T (p.Leu701Phe)	NOS1 (L701F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291794	NM_000620.5(NOS1):c.500A>G (p.Gln167Arg)	NOS1 (Q167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281235	NM_000620.5(NOS1):c.3908A>G (p.Gln1303Arg)	NOS1 (Q967R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278855	NM_000620.5(NOS1):c.3329C>T (p.Thr1110Met)	NOS1 (T1110M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267942	NM_000620.5(NOS1):c.1043G>A (p.Arg348Lys)	NOS1 (R348K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265127	NM_000620.5(NOS1):c.1858A>G (p.Asn620Asp)	NOS1 (N284D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261265	NM_000620.5(NOS1):c.3182C>T (p.Pro1061Leu)	NOS1 (P725L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261214	NM_000620.5(NOS1):c.1172A>G (p.Lys391Arg)	NOS1 (K55R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255859	NM_000620.5(NOS1):c.3614G>A (p.Arg1205Gln)	NOS1 (R869Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253379	NM_000620.5(NOS1):c.4018G>A (p.Val1340Met)	NOS1 (V1374M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243735	NM_000620.5(NOS1):c.2176G>A (p.Gly726Arg)	NOS1 (G726R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240778	NM_000620.5(NOS1):c.3259G>A (p.Glu1087Lys)	NOS1 (E751K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230441	NM_000620.5(NOS1):c.4078G>T (p.Ala1360Ser)	NOS1 (A1394S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226383	NM_000620.5(NOS1):c.1313C>A (p.Thr438Asn)	NOS1 (T102N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224811	NM_000620.5(NOS1):c.2303C>T (p.Thr768Ile)	NOS1 (T768I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205665	NM_000620.5(NOS1):c.2532-2185A>G	NOS1 (H877R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808305	GRCh37/hg19 12q24.21-24.22(chr12:116422123-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	not provided	GUncertain significance

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