Related gene-specific medical variations for Gene (Select 4846) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357144	NM_000603.5(NOS3):c.1740G>A (p.Pro580=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	NOS3-related disorder	GLikely benign
Select item 3201333	NM_000603.5(NOS3):c.35G>A (p.Gly12Glu)	LOC110973015, NOS3 (G12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201332	NM_000603.5(NOS3):c.3295G>A (p.Glu1099Lys)	ATG9B, NOS3 (E1099K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201331	NM_000603.5(NOS3):c.3244G>A (p.Asp1082Asn)	ATG9B, NOS3 (D1082N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201330	NM_000603.5(NOS3):c.3142T>C (p.Cys1048Arg)	ATG9B, NOS3 (C1048R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201326	NM_000603.5(NOS3):c.1271C>T (p.Thr424Met)	LOC126860224, NOS3 (T424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201325	NM_000603.5(NOS3):c.1252G>A (p.Val418Met)	LOC126860224, NOS3 (V418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201324	NM_000603.5(NOS3):c.121G>T (p.Ala41Ser)	LOC110973015, NOS3 (A41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068500	NM_000603.5(NOS3):c.1250_1259del (p.Ile417fs)	LOC126860224, NOS3 (I417fs)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 3065755	NM_000603.5(NOS3):c.1951G>A (p.Gly651Arg)	NOS3 (G651R)	Single nucleotide variant (missense variant)	Alzheimer disease type 1	GUncertain significance
Select item 3054854	NM_000603.5(NOS3):c.3450+7A>G	ATG9B, NOS3	Single nucleotide variant (intron variant)	NOS3-related disorder	GLikely benign
Select item 2658171	NM_000603.5(NOS3):c.*6G>A	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2658170	NM_000603.5(NOS3):c.3261C>T (p.Tyr1087=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658165	NM_000603.5(NOS3):c.1602C>T (p.Tyr534=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658164	NM_000603.5(NOS3):c.1267G>A (p.Ala423Thr)	LOC126860224, NOS3 (A423T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2602249	NM_000603.5(NOS3):c.1421G>A (p.Arg474His)	LOC126860224, NOS3 (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597782	NM_000603.5(NOS3):c.146C>T (p.Ala49Val)	LOC110973015, NOS3 (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560042	NM_000603.5(NOS3):c.3157C>G (p.Leu1053Val)	ATG9B, NOS3 (L1053V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2536976	NM_000603.5(NOS3):c.3559G>A (p.Gly1187Ser)	ATG9B, NOS3 (G1187S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490248	NM_000603.5(NOS3):c.1463C>T (p.Thr488Ile)	LOC126860224, NOS3 (T488I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488468	NM_000603.5(NOS3):c.3460C>G (p.Arg1154Gly)	ATG9B, NOS3 (R1154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469002	NM_000603.5(NOS3):c.3544G>A (p.Glu1182Lys)	ATG9B, NOS3 (E1182K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2390111	NM_000603.5(NOS3):c.3593C>T (p.Ser1198Leu)	ATG9B, NOS3 (S1198L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2323587	NM_000603.5(NOS3):c.1559C>T (p.Ala520Val)	LOC126860224, NOS3 (A520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319420	NM_000603.5(NOS3):c.3574G>A (p.Ala1192Thr)	ATG9B, NOS3 (A1192T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2276743	NM_000603.5(NOS3):c.1507G>A (p.Val503Met)	LOC126860224, NOS3 (V503M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265185	NM_000603.5(NOS3):c.3608C>A (p.Pro1203His)	ATG9B, NOS3 (P1203H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2221808	NM_000603.5(NOS3):c.3007C>T (p.Pro1003Ser)	ATG9B, NOS3 (P1003S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1279688	NM_000603.5(NOS3):c.3256-12G>A	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275619	NM_000603.5(NOS3):c.1752+80AC[29]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign
Select item 1265223	NM_000603.5(NOS3):c.1752+80AC[30]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign
Select item 1262311	NM_000603.5(NOS3):c.1503-30A>G	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261942	NM_000603.5(NOS3):c.1752+80AC[32]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign
Select item 1261260	NM_000603.5(NOS3):c.2113-176G>A	LOC129999614, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227505	NM_000603.5(NOS3):c.1648-38G>T	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221942	NM_000603.5(NOS3):c.3255+161A>C	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 931540	NM_000603.5(NOS3):c.284C>T (p.Thr95Ile)	NOS3 (T95I)	Single nucleotide variant (missense variant)	Essential hypertension	GUncertain significance
Select item 797709	NM_000603.5(NOS3):c.3009C>T (p.Pro1003=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 796936	NM_000603.5(NOS3):c.1713C>T (p.Thr571=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789595	NM_000603.5(NOS3):c.3414G>A (p.Glu1138=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 773218	NM_000603.5(NOS3):c.1464C>G (p.Thr488=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764002	NM_000603.5(NOS3):c.24C>T (p.Ala8=)	LOC110973015, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759912	NM_000603.5(NOS3):c.3165T>C (p.His1055=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 754091	NM_000603.5(NOS3):c.1503-4G>A	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 751120	NM_000603.5(NOS3):c.1413G>A (p.Pro471=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750452	NM_000603.5(NOS3):c.1656T>C (p.Cys552=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744667	NM_000603.5(NOS3):c.3403G>A (p.Gly1135Ser)	ATG9B, NOS3 (G1135S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 744580	NM_000603.5(NOS3):c.1251C>T (p.Ile417=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741463	NM_000603.5(NOS3):c.3468C>T (p.His1156=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 739880	NM_000603.5(NOS3):c.78C>T (p.Cys26=)	LOC110973015, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738548	NM_000603.5(NOS3):c.1707G>A (p.Val569=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735888	NM_000603.5(NOS3):c.1266C>T (p.Ala422=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734607	NM_000603.5(NOS3):c.3498C>A (p.Thr1166=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728798	NM_000603.5(NOS3):c.3180G>A (p.Glu1060=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 719909	NM_000603.5(NOS3):c.1264G>A (p.Ala422Thr)	LOC126860224, NOS3 (A422T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 713974	NM_000603.5(NOS3):c.3474C>T (p.Asp1158=)	ATG9B, NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711394	NM_000603.5(NOS3):c.3156A>G (p.Gln1052=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 709432	NM_000603.5(NOS3):c.3324G>C (p.Arg1108=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 517660	NM_000603.5(NOS3):c.-51-762C>T	LOC110973015, NOS3	Single nucleotide variant (intron variant)	Metabolic syndrome, susceptibility to	Gprotective
Select item 403252	NM_000603.5(NOS3):c.3351T>C (p.Val1117=)	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 403251	NM_000603.5(NOS3):c.3106+11G>T	ATG9B, NOS3	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 14016	NM_000603.5(NOS3):c.-51-762=	LOC110973015, NOS3	Single nucleotide variant (intron variant)	Coronary artery spasm 1, susceptibility to	Grisk factor

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Links from Gene

Items: 62