NOTCH1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1288748	NM_017617.5(NOTCH1):c.*1339T>C	NOTCH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1273192	NM_017617.5(NOTCH1):c.*136A>G	NOTCH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1256850	NM_017617.5(NOTCH1):c.*126G>A	NOTCH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1218551	NM_017617.5(NOTCH1):c.*14C>A	NOTCH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3037250	NM_017617.5(NOTCH1):c.*7C>T	NOTCH1	Single nucleotide variant (3 prime UTR variant)	NOTCH1-related disorder	GLikely benign
Select item 281156	NM_017617.5(NOTCH1):c.*6G>A	NOTCH1	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign
Select item 264503	NM_017617.5(NOTCH1):c.*5C>T	NOTCH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1216624	NM_017617.5(NOTCH1):c.*2C>T	NOTCH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 520029	NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1507051	NM_017617.5(NOTCH1):c.7658C>T (p.Ala2553Val)	NOTCH1 (A2553V)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 857190	NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr)	NOTCH1 (A2553T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 651006	NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GBenign/Likely benign
Select item 2156093	NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu)	NOTCH1 (P2551L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 134945	NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)	NOTCH1 (I2550V)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +5 more	GLikely benign
Select item 2881667	NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His)	NOTCH1 (R2549H)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 134948	NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys)	NOTCH1 (R2549C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 626778	NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)	NOTCH1 (A2548T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1630391	NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=)	NOTCH1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 708424	NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 3300438	NM_017617.5(NOTCH1):c.7639A>C (p.Ile2547Leu)	NOTCH1 (I2547L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1505290	NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His)	NOTCH1 (Q2544H)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 662885	NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg)	NOTCH1 (Q2544R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 2481134	NM_017617.5(NOTCH1):c.7627A>G (p.Met2543Val)	NOTCH1 (M2543V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2015332	NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile)	NOTCH1 (T2541I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1759849	NM_017617.5(NOTCH1):c.7620C>A (p.Pro2540=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1603036	NM_017617.5(NOTCH1):c.7617T>G (p.Pro2539=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 1759813	NM_017617.5(NOTCH1):c.7614C>T (p.Ser2538=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 1759774	NM_017617.5(NOTCH1):c.7608C>T (p.Val2536=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 477975	NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)	NOTCH1 (V2536I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1118977	NM_017617.5(NOTCH1):c.7605C>T (p.Gly2535=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 3226994	NM_017617.5(NOTCH1):c.7604G>T (p.Gly2535Val)	NOTCH1 (G2535V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2082293	NM_017617.5(NOTCH1):c.7599C>T (p.Ser2533=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 1124253	NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=)	NOTCH1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 477974	NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile)	NOTCH1 (V2529I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 697117	NM_017617.5(NOTCH1):c.7584C>T (p.Asn2528=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 3300459	NM_017617.5(NOTCH1):c.7583A>G (p.Asn2528Ser)	NOTCH1 (N2528S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1567196	NM_017617.5(NOTCH1):c.7575G>A (p.Pro2525=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 626779	NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +3 more	GLikely benign
Select item 3252779	NM_017617.5(NOTCH1):c.7574C>T (p.Pro2525Leu)	NOTCH1 (P2525L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532484	NM_017617.5(NOTCH1):c.7569G>C (p.Ser2523=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 520039	NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +3 more	GLikely benign
Select item 520048	NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu)	NOTCH1 (S2523L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GUncertain significance
Select item 2434391	NM_017617.5(NOTCH1):c.7556dup (p.Trp2520fs)	NOTCH1 (W2520fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1090655	NM_017617.5(NOTCH1):c.7554C>T (p.Asp2518=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 501879	NM_017617.5(NOTCH1):c.7554C>G (p.Asp2518Glu)	NOTCH1 (D2518E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998000	NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser)	NOTCH1 (P2517S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 477973	NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp)	NOTCH1 (E2515D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 581973	NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)	NOTCH1 (P2514fs)	Deletion (frameshift variant)	Adams-Oliver syndrome 5 +3 more	GUncertain significance OOncogenic
Select item 626571	NM_017617.5(NOTCH1):c.7541C>T (p.Pro2514Leu)	NOTCH1 (P2514L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 415389	NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 477972	NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 2003218	NM_017617.5(NOTCH1):c.7532C>A (p.Thr2511Asn)	NOTCH1 (T2511N)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 477971	NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro)	NOTCH1 (L2510P)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 241171	NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)	NOTCH1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1504481	NM_017617.5(NOTCH1):c.7510G>A (p.Val2504Met)	NOTCH1 (V2504M)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2020162	NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter)	NOTCH1 (Q2503*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2906150	NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 487470	NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)	NOTCH1 (H2500D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 2630053	NM_017617.5(NOTCH1):c.7495A>C (p.Ser2499Arg)	NOTCH1 (S2499R)	Single nucleotide variant (missense variant)	NOTCH1-related disorder	GUncertain significance
Select item 1759169	NM_017617.5(NOTCH1):c.7494C>T (p.Pro2498=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3226993	NM_017617.5(NOTCH1):c.7492C>G (p.Pro2498Ala)	NOTCH1 (P2498A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2442556	NM_017617.5(NOTCH1):c.7490C>A (p.Thr2497Asn)	NOTCH1 (T2497N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1759127	NM_017617.5(NOTCH1):c.7488C>T (p.Asn2496=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2637264	NM_017617.5(NOTCH1):c.7485C>A (p.Asp2495Glu)	NOTCH1 (D2495E)	Single nucleotide variant (missense variant)	NOTCH1-related disorder	GUncertain significance
Select item 561315	NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 2151452	NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)	NOTCH1 (S2492L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1759070	NM_017617.5(NOTCH1):c.7473C>T (p.Ser2491=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1016511	NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr)	NOTCH1 (S2491Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2628489	NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg)	NOTCH1 (H2488R)	Single nucleotide variant (missense variant)	NOTCH1-related disorder +1 more	GUncertain significance
Select item 1539478	NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 2566648	NM_017617.5(NOTCH1):c.7458G>C (p.Ser2486=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 742819	NM_017617.5(NOTCH1):c.7458G>A (p.Ser2486=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 3032002	NM_017617.5(NOTCH1):c.7457C>T (p.Ser2486Leu)	NOTCH1 (S2486L)	Single nucleotide variant (missense variant)	NOTCH1-related disorder	GUncertain significance
Select item 2157721	NM_017617.5(NOTCH1):c.7455C>G (p.Pro2485=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 790271	NM_017617.5(NOTCH1):c.7455C>A (p.Pro2485=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 415405	NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GBenign/Likely benign
Select item 520080	NM_017617.5(NOTCH1):c.7438C>T (p.Gln2480Ter)	NOTCH1 (Q2480*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1758895	NM_017617.5(NOTCH1):c.7433C>G (p.Ala2478Gly)	NOTCH1 (A2478G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 656744	NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr)	NOTCH1 (A2478T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 1758885	NM_017617.5(NOTCH1):c.7431C>G (p.Thr2477=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 766886	NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1368284	NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile)	NOTCH1 (T2477I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GUncertain significance
Select item 1306381	NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met)	NOTCH1 (V2476M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 520042	NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GLikely benign
Select item 2536762	NM_017617.5(NOTCH1):c.7423C>T (p.Pro2475Ser)	NOTCH1 (P2475S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1380794	NM_017617.5(NOTCH1):c.7417del (p.Val2473fs)	NOTCH1 (V2473fs)	Deletion (frameshift variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 648273	NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile)	NOTCH1 (V2473I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GUncertain significance
Select item 2170677	NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 1154564	NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +3 more	GLikely benign
Select item 2566655	NM_017617.5(NOTCH1):c.7410C>G (p.Ser2470=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2810868	NM_017617.5(NOTCH1):c.7407A>G (p.Pro2469=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2897787	NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser)	NOTCH1 (P2469S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1472062	NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met)	NOTCH1 (L2468M)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1125870	NM_017617.5(NOTCH1):c.7401G>A (p.Ser2467=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 520037	NM_017617.5(NOTCH1):c.7401G>T (p.Ser2467=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 134947	NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu)	NOTCH1 (S2467L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 1644787	NM_017617.5(NOTCH1):c.7398G>A (p.Thr2466=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 241169	NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)	NOTCH1 (T2466M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 241168	NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 2421916	NM_017617.5(NOTCH1):c.7389C>T (p.Ala2463=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign

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