"GeneDx"[submitter] AND "NOS3"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 1229830	NM_000603.5(NOS3):c.270+42G>A	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269294	NM_000603.5(NOS3):c.271-62C>G	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182440	NM_000603.5(NOS3):c.335G>A (p.Arg112Gln)	NOS3 (R112Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 403248	NM_000603.5(NOS3):c.774T>C (p.Asp258=)	NOS3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1256933	NM_000603.5(NOS3):c.817-26A>G	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776272	NM_000603.5(NOS3):c.849C>T (p.Asn283=)	NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 14015	NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)	NOS3 (D298E)	Single nucleotide variant (missense variant)	Preeclampsia/eclampsia 1 +5 more	GBenign
Select item 1178891	NM_000603.5(NOS3):c.1132-253C>A	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273030	NM_000603.5(NOS3):c.1132-199G>A	NOS3	Single nucleotide variant (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 1227505	NM_000603.5(NOS3):c.1648-38G>T	LOC126860224, 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 1261942	NM_000603.5(NOS3):c.1752+80AC[32]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign
Select item 1278172	NM_000603.5(NOS3):c.1752+219C>G	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178917	NM_000603.5(NOS3):c.1752+1245A>G	NOS3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1227867	NM_000603.5(NOS3):c.1752+1554C>A	NOS3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1265672	NM_000603.5(NOS3):c.1820+160_1820+161insT	NOS3	Insertion (intron variant)	not provided	GBenign
Select item 1230779	NM_000603.5(NOS3):c.1821-62G>T	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403249	NM_000603.5(NOS3):c.1998C>G (p.Ala666=)	NOS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1257050	NM_000603.5(NOS3):c.2112+36C>A	NOS3	Single nucleotide variant (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 1286616	NM_000603.5(NOS3):c.2324+22C>A	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261436	NM_000603.5(NOS3):c.2324+28C>A	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262270	NM_000603.5(NOS3):c.2325-45dup	NOS3	Duplication (intron variant)	not provided	GBenign
Select item 1285825	NM_000603.5(NOS3):c.2513-86T>C	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248545	NM_000603.5(NOS3):c.2685+113C>T	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248624	NM_000603.5(NOS3):c.2897-44G>A	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403250	NM_000603.5(NOS3):c.2984+15A>G	NOS3	Single nucleotide variant (intron variant)	not specified +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 1221942	NM_000603.5(NOS3):c.3255+161A>C	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279688	NM_000603.5(NOS3):c.3256-12G>A	ATG9B, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
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

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Items: 38