"PreventionGenetics, part of Exact Sciences"[submitter] AND "NOS1"[gen - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033399	NM_000620.5(NOS1):c.*8C>T	NOS1	Single nucleotide variant (3 prime UTR 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 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 774486	NM_000620.5(NOS1):c.3522G>A (p.Leu1174=)	NOS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 711575	NM_000620.5(NOS1):c.3453C>T (p.Ile1151=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder +1 more	GBenign
Select item 717479	NM_000620.5(NOS1):c.3330G>A (p.Thr1110=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder +1 more	GLikely benign
Select item 3061017	NM_000620.5(NOS1):c.3258C>T (p.Asp1086=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
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 3034912	NM_000620.5(NOS1):c.3159C>T (p.Ile1053=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GLikely benign
Select item 788441	NM_000620.5(NOS1):c.3066C>G (p.Leu1022=)	NOS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 776753	NM_000620.5(NOS1):c.3042-6C>T	NOS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 710024	NM_000620.5(NOS1):c.2721C>T (p.Leu907=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder +1 more	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 3052307	NM_000620.5(NOS1):c.2661T>C (p.Phe887=)	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 788796	NM_000620.5(NOS1):c.2591G>A (p.Gly864Asp)	NOS1 (G864D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 3053861	NM_000620.5(NOS1):c.2532-2256C>A	NOS1	Single nucleotide variant (synonymous variant +1 more)	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 3060480	NM_000620.5(NOS1):c.2202T>C (p.Ile734=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder	GBenign
Select item 790129	NM_000620.5(NOS1):c.2173A>G (p.Asn725Asp)	NOS1 (N725D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 715032	NM_000620.5(NOS1):c.1855A>T (p.Met619Leu)	NOS1 (M283L +1 more)	Single nucleotide variant (missense variant)	NOS1-related disorder +1 more	GLikely benign
Select item 789526	NM_000620.5(NOS1):c.1783G>A (p.Gly595Ser)	NOS1 (G259S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 756097	NM_000620.5(NOS1):c.1572C>A (p.Val524=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder +1 more	GLikely benign
Select item 785428	NM_000620.5(NOS1):c.1461C>T (p.Tyr487=)	NOS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2643377	NM_000620.5(NOS1):c.1425C>T (p.His475=)	NOS1	Single nucleotide variant (synonymous variant)	NOS1-related disorder +1 more	GBenign
Select item 774822	NM_000620.5(NOS1):c.1181A>C (p.Asp394Ala)	NOS1 (D394A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 749301	NM_000620.5(NOS1):c.1107A>G (p.Gln369=)	NOS1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 790463	NM_000620.5(NOS1):c.721G>A (p.Asp241Asn)	NOS1 (D241N)	Single nucleotide variant (missense variant)	not provided +1 more	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 787102	NM_000620.5(NOS1):c.458C>T (p.Ser153Leu)	NOS1 (S153L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 784257	NM_000620.5(NOS1):c.420G>A (p.Pro140=)	NOS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 784258	NM_000620.5(NOS1):c.273C>T (p.Thr91=)	NOS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 37