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Gene: CHRNA2 & Disease: ENFL, 2742 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
204975	CHRNA2	c.1464G>A	p.Ser488= (p.S488=)	NM_000742.4 M	SNV	LB	1 +	2
999717	CHRNA2	c.527C>A	p.Pro176Gln (p.P176Q)	NM_000742.4 M	SNV	VUS	1 +	2
543532	CHRNA2	c.449+3A>T	--	NM_000742.4 M	SNV	VUS	1 +	2
568258	CHRNA2	c.1465-2A>G	--	NM_000742.4 M	SNV	VUS	1 +	2
1347039	CHRNA2	c.1464+5G>T	--	NM_000742.4 M	SNV	VUS	1 +	2
1498617	CHRNA2	c.1465-1G>A	--	NM_000742.4 M	SNV	VUS	1 +	2
450186	CHRNA2	c.294+5G>A	--	NM_000742.4 M	SNV	VUS	2 +	2
966494	CHRNA2	c.73+4A>C	--	NM_000742.4 M	SNV	VUS	1 +	2
204975	CHRNA2	c.1419G>A	p.Ser473= (p.S473=)	NM_001282455.2	SNV	LB	1 +	2
	CHRNA2	c.987G>A	p.Ser329= (p.S329=)	NM_001347705.2	SNV	LB	1 +	2
	CHRNA2	c.987G>A	p.Ser329= (p.S329=)	NM_001347706.2	SNV	LB	1 +	2
	CHRNA2	c.870G>A	p.Ser290= (p.S290=)	NM_001347707.2	SNV	LB	1 +	2
	CHRNA2	c.870G>A	p.Ser290= (p.S290=)	NM_001347708.2	SNV	LB	1 +	2
999717	CHRNA2	c.482C>A	p.Pro161Gln (p.P161Q)	NM_001282455.2	SNV	VUS	1 +	2
	CHRNA2	c.50C>A	p.Pro17Gln (p.P17Q)	NM_001347705.2	SNV	VUS	1 +	2
	CHRNA2	c.50C>A	p.Pro17Gln (p.P17Q)	NM_001347706.2	SNV	VUS	1 +	2
	CHRNA2	c.-12-56C>A	--	NM_001347708.2	SNV	VUS	1 +	2
	CHRNA2	c.-9-59C>A	--	NM_001347707.2	SNV	VUS	1 +	2
543532	CHRNA2	c.-10+3A>T	--	NM_001347707.2	SNV	VUS	1 +	2
543532	CHRNA2	c.-24+3A>T	--	NM_001347705.2	SNV	VUS	1 +	2

2742 Results, 20 per Page

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