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Gene: COG2 & Disease: CDG2Q, 204 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
572881	COG2	c.1934+3A>G	--	NM_007357.3 M	SNV	VUS	1 +	2
572881	COG2	c.1931+3A>G	--	NM_001145036.2	SNV	VUS	1 +	2
1970272	COG2	c.260del	p.Gln87fs (p.Q87fs)	NM_007357.3 M	Del	P	1 +	1
568944	COG2	c.436dup	p.Ile146fs (p.I146fs)	NM_007357.3 M	Dup	P	1 +	1
1644256	COG2	c.899+15C>G	--	NM_007357.3 M	SNV	LB	1 +	1
2150800	COG2	c.1977G>A	p.Lys659= (p.K659=)	NM_007357.3 M	SNV	LB	1 +	1
2118573	COG2	c.601G>A	p.Ala201Thr (p.A201T)	NM_007357.3 M	SNV	VUS	1 +	1
417770	COG2	c.701dup	p.Tyr234Ter (p.Y234X)	NM_007357.3 M	Dup	P	1 +	1
417771	COG2	c.1900T>G	p.Trp634Gly (p.W634G)	NM_007357.3 M	SNV	P	1 +	1
1970272	COG2	c.260del	p.Gln87fs (p.Q87fs)	NM_001145036.2	Del	P	1 +	1
568944	COG2	c.436dup	p.Ile146fs (p.I146fs)	NM_001145036.2	Dup	P	1 +	1
1644256	COG2	c.899+15C>G	--	NM_001145036.2	SNV	LB	1 +	1
2150800	COG2	c.1974G>A	p.Lys658= (p.K658=)	NM_001145036.2	SNV	LB	1 +	1
2118573	COG2	c.601G>A	p.Ala201Thr (p.A201T)	NM_001145036.2	SNV	VUS	1 +	1
417770	COG2	c.701dup	p.Tyr234Ter (p.Y234X)	NM_001145036.2	Dup	P	1 +	1
417771	COG2	c.1897T>G	p.Trp633Gly (p.W633G)	NM_001145036.2	SNV	P	1 +	1
2147341	COG2	c.485+19A>G	--	NM_007357.3 M	SNV	LB	1 +	0
775694	COG2	c.1765G>A	p.Val589Ile (p.V589I)	NM_007357.3 M	SNV	LB	1 +	0
1040914	COG2	c.1358G>A	p.Arg453Gln (p.R453Q)	NM_007357.3 M	SNV	VUS	1 +	0
934430	COG2	c.1709A>G	p.Lys570Arg (p.K570R)	NM_007357.3 M	SNV	VUS	1 +	0

204 Results, 20 per Page

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