NOTCH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 59139	GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1	C9orf163, CARD9 +46 more	Copy number loss	See cases	GPathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 148428	GRCh38/hg38 9q34.3(chr9:136405220-136608638)x1	C9orf163, ENTR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 152186	GRCh38/hg38 9q34.3(chr9:136456142-136540904)x3	C9orf163, LOC126860794 +8 more	Copy number gain	See cases	GUncertain significance
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 477871	NC_000009.11:g.(?_139390503)_(139438574_?)dup	LOC124375244, LOC126860794 +4 more	Duplication	Adams-Oliver syndrome 5	GUncertain significance
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 specified +2 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)	Adams-Oliver syndrome 5 +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)	not provided +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)	NOTCH1-related disorder +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)	not specified +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)	Aortic valve disease 1 +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)	Aortic valve disease 1 +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)	Aortic valve disease 1 +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)	Familial thoracic aortic aneurysm and aortic dissection +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

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