Related gene-specific medical variations for Gene (Select 126860224) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 +1 more	GBenign/Likely benign
Select item 2602249	NM_000603.5(NOS3):c.1421G>A (p.Arg474His)	NOS3, LOC126860224 (R474H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490248	NM_000603.5(NOS3):c.1463C>T (p.Thr488Ile)	NOS3, LOC126860224 (T488I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323587	NM_000603.5(NOS3):c.1559C>T (p.Ala520Val)	LOC126860224, NOS3 (A520V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276743	NM_000603.5(NOS3):c.1507G>A (p.Val503Met)	LOC126860224, NOS3 (V503M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1227505	NM_000603.5(NOS3):c.1648-38G>T	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
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 773218	NM_000603.5(NOS3):c.1464C>G (p.Thr488=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	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 744580	NM_000603.5(NOS3):c.1251C>T (p.Ile417=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided +1 more	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 719909	NM_000603.5(NOS3):c.1264G>A (p.Ala422Thr)	LOC126860224, NOS3 (A422T)	Single nucleotide variant (missense variant)	NOS3-related condition +1 more	GBenign/Likely benign

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Links from Gene

Items: 21