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Gene: NOTCH2 & Disease: ALGS2, 205 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
290972	NOTCH2	c.6999G>A	p.Ala2333= (p.A2333=)	NM_024408.4 M	SNV	LB	2 +	2
1564834	NOTCH2	c.3462G>A	p.Ala1154= (p.A1154=)	NM_024408.4 M	SNV	LB	2 +	2
1699062	NOTCH2	c.4019C>T	p.Ala1340Val (p.A1340V)	NM_024408.4 M	SNV	VUS	1 +	2
1699130	NOTCH2	c.2365G>A	p.Gly789Ser (p.G789S)	NM_024408.4 M	SNV	VUS	1 +	2
134977	NOTCH2	c.4999G>A	p.Val1667Ile (p.V1667I)	NM_024408.4 M	SNV	LB	2 +	2
286546	NOTCH2	c.4311C>T	p.Gly1437= (p.G1437=)	NM_024408.4 M	SNV	LB	2 +	2
1564834	NOTCH2	c.3462G>A	p.Ala1154= (p.A1154=)	NM_001200001.2	SNV	LB	2 +	2
1699130	NOTCH2	c.2365G>A	p.Gly789Ser (p.G789S)	NM_001200001.2	SNV	VUS	1 +	2
499864	NOTCH2	c.6767G>A	p.Arg2256His (p.R2256H)	NM_024408.4 M	SNV	VUS	3 +	1
952730	NOTCH2	c.5684G>A	p.Arg1895His (p.R1895H)	NM_024408.4 M	SNV	LB	2 +	1
684618	NOTCH2	c.5222C>T	p.Ser1741Leu (p.S1741L)	NM_024408.4 M	SNV	P	1 +	1
684619	NOTCH2	c.5644C>T	p.His1882Tyr (p.H1882Y)	NM_024408.4 M	SNV	P	1 +	1
9229	NOTCH2	c.5930-1G>A	--	NM_024408.4 M	SNV	P	1 +	1
9230	NOTCH2	c.1331G>A	p.Cys444Tyr (p.C444Y)	NM_024408.4 M	SNV	P	1 +	1
1293670	NOTCH2	c.2753-44C>T	--	NM_024408.4 M	SNV	B	2 +	1
501462	NOTCH2	c.5156G>A	p.Arg1719Gln (p.R1719Q)	NM_024408.4 M	SNV	VUS	2 +	1
134973	NOTCH2	c.3995G>A	p.Arg1332His (p.R1332H)	NM_024408.4 M	SNV	VUS	2 +	1
9230	NOTCH2	c.1331G>A	p.Cys444Tyr (p.C444Y)	NM_001200001.2	SNV	P	1 +	1
1293670	NOTCH2	c.2753-44C>T	--	NM_001200001.2	SNV	B	2 +	1
1353734	NOTCH2	c.7016T>C	p.Met2339Thr (p.M2339T)	NM_024408.4 M	SNV	VUS	2 +	0

205 Results, 20 per Page

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