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	ABCA1, ABCA2 +3794 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC126860732, LOC126860733 +3793 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	ABCA1, ABCA2 +3794 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3794 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3794 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124310616, LOC124310617 +3794 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130002668, LOC130002669 +3794 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC130003134, LOC130003135 +3794 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC132089640, LOC132089641 +3794 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1273 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1269 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	ABCA2, ABL1 +1211 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LNCEGFL7OS, LOC100128593 +790 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PRDM12, PRRC2B +537 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +657 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC130002888, LOC130002889 +570 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	ABCA2, ABO +553 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +573 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	ABCA2, ABO +573 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	ABCA2, ABO +573 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	ABCA2, ABO +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +573 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	ABCA2, ABO +531 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	LINC02247, LINC02692 +511 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +440 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	ABCA2, AGPAT2 +418 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003080, LOC130003081 +406 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC113839542, LOC114022701 +393 more	Copy number gain	See cases	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	LOC130002968, LOC130002969 +389 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	EDF1, EGFL7 +372 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +368 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC105376314, LOC107987142 +266 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +348 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	SAPCD2, SEC16A +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	ABCA2, AGPAT2 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	ABCA2, AGPAT2 +348 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	LOC130002980, LOC130002981 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +312 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	ABCA2, AGPAT2 +325 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +326 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LCNL1, LOC130003091 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	CACNA1B, C9orf163 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	ABCA2, AGPAT2 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
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	ABCA2, AGPAT2 +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 4354219	NM_017617.5(NOTCH1):c.*44G>A	NOTCH1	Single nucleotide variant (3 prime UTR variant)	Not Specified
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)	not specified	GBenign
Select item 281156	NM_017617.5(NOTCH1):c.*6G>A	NOTCH1	Single nucleotide variant (3 prime UTR variant)	Adams-Oliver syndrome 5 +3 more	GBenign
Select item 264503	NM_017617.5(NOTCH1):c.*5C>T	NOTCH1	Single nucleotide variant (3 prime UTR variant)	not provided +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)	Familial thoracic aortic aneurysm and aortic dissection +2 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)	Familial thoracic aortic aneurysm and aortic dissection +2 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)	Aortic valve disease 1 +4 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)	not provided +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)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 1630391	NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 708424	NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +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 4527230	NM_017617.5(NOTCH1):c.7630C>T (p.Gln2544Ter)	NOTCH1 (Q2544*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 +1 more	GConflicting classifications of pathogenicity
Select item 3880473	NM_017617.5(NOTCH1):c.7622C>A (p.Thr2541Asn)	NOTCH1 (T2541N)	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 +1 more	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)	Familial thoracic aortic aneurysm and aortic dissection +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 +3 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 3693345	NM_017617.5(NOTCH1):c.7600G>A (p.Glu2534Lys)	NOTCH1 (E2534K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2082293	NM_017617.5(NOTCH1):c.7599C>T (p.Ser2533=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1124253	NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +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)	not specified +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)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 520048	NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu)	NOTCH1 (S2523L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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 3880503	NM_017617.5(NOTCH1):c.7549C>G (p.Pro2517Ala)	NOTCH1 (P2517A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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