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Gene: COL5A2 & Disease: EDS, 56 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1702225	COL5A2	c.1246C>G	p.Pro416Ala (p.P416A)	NM_000393.5 M	SNV	VUS	2 +	2
256003	COL5A2	c.403-3T>C	--	NM_000393.5 M	SNV	LB	6 +	2
213127	COL5A2	c.4240G>A	p.Asp1414Asn (p.D1414N)	NM_000393.5 M	SNV	LB	6 +	2
213128	COL5A2	c.4295A>T	p.Asp1432Val (p.D1432V)	NM_000393.5 M	SNV	LB	6 +	2
213089	COL5A2	c.33C>T	p.Leu11= (p.L11=)	NM_000393.5 M	SNV	LB	6 +	0
379901	COL5A2	c.186T>C	p.Cys62= (p.C62=)	NM_000393.5 M	SNV	LB	4 +	0
136961	COL5A2	c.198T>C	p.Asn66= (p.N66=)	NM_000393.5 M	SNV	LB	7 +	0
136963	COL5A2	c.261G>A	p.Thr87= (p.T87=)	NM_000393.5 M	SNV	LB	7 +	0
136965	COL5A2	c.322+8T>C	--	NM_000393.5 M	SNV	LB	5 +	0
1619807	COL5A2	c.429A>G	p.Arg143= (p.R143=)	NM_000393.5 M	SNV	LB	2 +	0
213161	COL5A2	c.437G>A	p.Arg146Gln (p.R146Q)	NM_000393.5 M	SNV	B	5 +	0
1702232	COL5A2	c.697G>A	p.Ala233Thr (p.A233T)	NM_000393.5 M	SNV	LB	2 +	0
993416	COL5A2	c.749C>T	p.Pro250Leu (p.P250L)	NM_000393.5 M	SNV	LB	3 +	0
333147	COL5A2	c.851C>T	p.Pro284Leu (p.P284L)	NM_000393.5 M	SNV	LB	6 +	0
285912	COL5A2	c.961-3del	--	NM_000393.5 M	Del	LB	5 +	0
136932	COL5A2	c.975C>T	p.Pro325= (p.P325=)	NM_000393.5 M	SNV	LB	6 +	0
136933	COL5A2	c.1006-9C>T	--	NM_000393.5 M	SNV	LB	4 +	0
136935	COL5A2	c.1081A>C	p.Met361Leu (p.M361L)	NM_000393.5 M	SNV	LB	6 +	0
212979	COL5A2	c.1301C>T	p.Thr434Met (p.T434M)	NM_000393.5 M	SNV	LB	7 +	0
136939	COL5A2	c.1378C>T	p.Pro460Ser (p.P460S)	NM_000393.5 M	SNV	LB	6 +	0

56 Results, 20 per Page

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