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Gene: COL9A2 & Disease: EDM2, 108 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
427128	COL9A2	c.186G>A	p.Pro62= (p.P62=)	NM_001852.4 M	SNV	P	1 +	7
17142	COL9A2	c.186+2T>C	--	NM_001852.4 M	SNV	P	1 +	3
297299	COL9A2	c.1162-3C>T	--	NM_001852.4 M	SNV	LB	1 +	2
1007311	COL9A2	c.1485del	p.Gly496fs (p.G496fs)	NM_001852.4 M	Del	P	2 +	2
982740	COL9A2	c.1242dup	p.Gly415fs (p.G415fs)	NM_001852.4 M	Dup	P	1 +	2
874399	COL9A2	c.900G>C	p.Thr300= (p.T300=)	NM_001852.4 M	SNV	VUS	1 +	2
297291	COL9A2	c.1834G>A	p.Gly612Arg (p.G612R)	NM_001852.4 M	SNV	LB	1 +	1
17146	COL9A2	c.186G>C	p.Pro62= (p.P62=)	NM_001852.4 M	SNV	P	1 +	1
875312	COL9A2	c.472-10C>A	--	NM_001852.4 M	SNV	LB	1 +	1
258382	COL9A2	c.1981C>A	p.Pro661Thr (p.P661T)	NM_001852.4 M	SNV	LB	2 +	1
258393	COL9A2	c.737C>T	p.Thr246Met (p.T246M)	NM_001852.4 M	SNV	LB	2 +	1
876390	COL9A2	c.185C>T	p.Pro62Leu (p.P62L)	NM_001852.4 M	SNV	LB	1 +	1
17144	COL9A2	c.186+5G>C	--	NM_001852.4 M	SNV	P	1 +	1
196620	COL9A2	c.1741G>A	p.Val581Ile (p.V581I)	NM_001852.4 M	SNV	LB	1 +	0
1341527	COL9A2	c.1342G>A	p.Gly448Ser (p.G448S)	NM_001852.4 M	SNV	VUS	1 +	0
417900	COL9A2	c.2059A>G	p.Lys687Glu (p.K687E)	NM_001852.4 M	SNV	LB	3 +	0
1683581	COL9A2	c.1009-2A>C	--	NM_001852.4 M	SNV	VUS	1 +	0
196777	COL9A2	c.2019G>A	p.Ser673= (p.S673=)	NM_001852.4 M	SNV	LB	1 +	0
196778	COL9A2	c.1982C>T	p.Pro661Leu (p.P661L)	NM_001852.4 M	SNV	LB	2 +	0
282805	COL9A2	c.919G>A	p.Gly307Ser (p.G307S)	NM_001852.4 M	SNV	LB	2 +	0

108 Results, 20 per Page

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