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Gene: EVC & Disease: EVC, 3142 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5338	EVC	c.1886+5G>T	--	NM_153717.3 M	SNV	P	3 +	10
5338	EVC	c.1886+5G>T	--	NM_001306090.2	SNV	P	3 +	10
1458810	EVC	c.1886+5G>A	--	NM_153717.3 M	SNV	P	2 +	7
1458810	EVC	c.1886+5G>A	--	NM_001306090.2	SNV	P	2 +	7
5343	EVC	c.919T>C	p.Ser307Pro (p.S307P)	NM_153717.3 M	SNV	P	2 +	5
	EVC	c.919T>C	p.Ser307Pro (p.S307P)	NM_001306090.2	SNV	P	2 +	5
	EVC	c.919T>C	p.Ser307Pro (p.S307P)	NM_001306092.2	SNV	P	2 +	5
1322838	EVC	c.1783_1886+40del	--	NM_153717.3 M	Del	P	2 +	4
488510	EVC	c.2894+3A>G	--	NM_153717.3 M	SNV	P	2 +	4
5340	EVC	c.1018C>T	p.Arg340Ter (p.R340X)	NM_153717.3 M	SNV	P	3 +	4
456000	EVC	c.617G>A	p.Ser206Asn (p.S206N)	NM_153717.3 M	SNV	P	2 +	4
1322838	EVC	c.1783_1886+40del	--	NM_001306090.2	Del	P	2 +	4
488510	EVC	c.2894+3A>G	--	NM_001306090.2	SNV	P	2 +	4
5340	EVC	c.1018C>T	p.Arg340Ter (p.R340X)	NM_001306090.2	SNV	P	3 +	4
5340	EVC	c.1018C>T	p.Arg340Ter (p.R340X)	NM_001306092.2	SNV	P	3 +	4
456000	EVC	c.617G>A	p.Ser206Asn (p.S206N)	NM_001306090.2	SNV	P	2 +	4
456000	EVC	c.617G>A	p.Ser206Asn (p.S206N)	NM_001306092.2	SNV	P	2 +	4
917937	EVC	c.922_923del	p.Glu308fs (p.E308fs)	NM_153717.3 M	Del	P	2 +	3
1066868	EVC	c.175-2A>G	--	NM_153717.3 M	SNV	P	2 +	3
550897	EVC	c.1887-5_1904del	--	NM_153717.3 M	Del	P	2 +	3

3142 Results, 20 per Page

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