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Gene: NOTCH1 & Disease: AOVD1, 655 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
134932	NOTCH1	c.4028C>T	p.Ala1343Val (p.A1343V)	NM_017617.5 M	SNV	LB	5 +	15
134939	NOTCH1	c.4823G>A	p.Arg1608His (p.R1608H)	NM_017617.5 M	SNV	LB	4 +	14
134954	NOTCH1	c.6853G>A	p.Val2285Ile (p.V2285I)	NM_017617.5 M	SNV	LB	5 +	14
664604	NOTCH1	c.4655C>T	p.Ala1552Val (p.A1552V)	NM_017617.5 M	SNV	VUS	2 +	13
222758	NOTCH1	c.6205G>A	p.Ala2069Thr (p.A2069T)	NM_017617.5 M	SNV	LB	5 +	13
134930	NOTCH1	c.3836G>A	p.Arg1279His (p.R1279H)	NM_017617.5 M	SNV	LB	5 +	13
134944	NOTCH1	c.368C>T	p.Thr123Met (p.T123M)	NM_017617.5 M	SNV	LB	4 +	13
220792	NOTCH1	c.3294C>T	p.Ser1098= (p.S1098=)	NM_017617.5 M	SNV	LB	5 +	13
196914	NOTCH1	c.6777T>C	p.Gly2259= (p.G2259=)	NM_017617.5 M	SNV	B	4 +	12
197310	NOTCH1	c.711C>T	p.Gly237= (p.G237=)	NM_017617.5 M	SNV	B	4 +	12
508765	NOTCH1	c.5384+14G>A	--	NM_017617.5 M	SNV	LB	2 +	12
287652	NOTCH1	c.6648G>A	p.Pro2216= (p.P2216=)	NM_017617.5 M	SNV	B	4 +	12
509216	NOTCH1	c.6975T>C	p.Pro2325= (p.P2325=)	NM_017617.5 M	SNV	LB	4 +	12
263902	NOTCH1	c.4887C>T	p.His1629= (p.H1629=)	NM_017617.5 M	SNV	LB	5 +	12
264030	NOTCH1	c.5673C>T	p.Ser1891= (p.S1891=)	NM_017617.5 M	SNV	LB	4 +	12
264031	NOTCH1	c.5500C>T	p.Leu1834= (p.L1834=)	NM_017617.5 M	SNV	LB	4 +	12
264535	NOTCH1	c.7289G>C	p.Gly2430Ala (p.G2430A)	NM_017617.5 M	SNV	LB	4 +	12
264537	NOTCH1	c.2813G>A	p.Arg938Gln (p.R938Q)	NM_017617.5 M	SNV	LB	4 +	12
264538	NOTCH1	c.4626C>T	p.Asp1542= (p.D1542=)	NM_017617.5 M	SNV	LB	4 +	12
264614	NOTCH1	c.6397C>T	p.Pro2133Ser (p.P2133S)	NM_017617.5 M	SNV	LB	4 +	12

655 Results, 20 per Page

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