"Baylor Genetics"[submitter] AND "NOTCH1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 515780	NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)	NOTCH1 (A2463T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 134953	NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)	NOTCH1 (R2263Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 449324	NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	NOTCH1 (P2161S)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 374271	NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter)	NOTCH1 (Y2116*)	Single nucleotide variant (nonsense)	Aortic valve disease 1	GPathogenic
Select item 2582471	NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser)	NOTCH1 (G1975S)	Single nucleotide variant (missense variant)	Aortic valve disease 1	GUncertain significance
Select item 477950	NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 1033433	NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met)	NOTCH1 (I1887M)	Single nucleotide variant (missense variant)	Aortic valve disease 1	GUncertain significance
Select item 1029626	NM_017617.5(NOTCH1):c.5384+3G>C	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 664604	NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)	NOTCH1 (A1552V)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 2582427	NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp)	NOTCH1 (C1536W)	Single nucleotide variant (missense variant)	Aortic valve disease 1	GUncertain significance
Select item 2441814	NM_017617.5(NOTCH1):c.4583_4586+2dup	NOTCH1	Duplication (splice donor variant)	Aortic valve disease 1	GUncertain significance
Select item 1029625	NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile)	NOTCH1 (F1432I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 477926	NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)	NOTCH1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2671929	NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)	NOTCH1 (V1229fs)	Deletion (frameshift variant)	Adams-Oliver syndrome 5	GPathogenic
Select item 1029624	NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)	NOTCH1 (S951G)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GUncertain significance
Select item 3237460	NM_017617.5(NOTCH1):c.2206G>C (p.Gly736Arg)	NOTCH1 (G736R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1029477	NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)	NOTCH1 (N718S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1033432	NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp)	NOTCH1 (Y550D)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2441688	NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp)	NOTCH1 (C514W)	Single nucleotide variant (missense variant)	Aortic valve disease 1	GUncertain significance
Select item 1033431	NM_017617.5(NOTCH1):c.1256-15G>A	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1033430	NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)	NOTCH1 (F357del)	Deletion (inframe_deletion)	Aortic valve disease 1	GUncertain significance
Select item 3238794	NM_017617.5(NOTCH1):c.928G>A (p.Gly310Arg)	NOTCH1 (G310R)	Single nucleotide variant (missense variant)	Aortic valve disease 1	GUncertain significance

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Items: 22