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Gene: COL4A2 & Disease: ICH, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
29631	COL4A2	c.5068G>A	p.Ala1690Thr (p.A1690T)	NM_001846.4 M	SNV	LB	2 +	5
1508130	COL4A2	c.4906G>A	p.Gly1636Ser (p.G1636S)	NM_001846.4 M	SNV	LB	2 +	2
79302	COL4A2	c.3258G>A	p.Ala1086= (p.A1086=)	NM_001846.4 M	SNV	LB	2 +	2
311097	COL4A2	c.315+14G>T	--	NM_001846.4 M	SNV	LB	2 +	2
311104	COL4A2	c.549+15G>C	--	NM_001846.4 M	SNV	LB	2 +	2
311108	COL4A2	c.594C>T	p.Pro198= (p.P198=)	NM_001846.4 M	SNV	LB	2 +	2
311110	COL4A2	c.732C>T	p.Asp244= (p.D244=)	NM_001846.4 M	SNV	LB	2 +	2
29629	COL4A2	c.3368A>G	p.Glu1123Gly (p.E1123G)	NM_001846.4 M	SNV	LB	2 +	1
29630	COL4A2	c.3448C>A	p.Gln1150Lys (p.Q1150K)	NM_001846.4 M	SNV	LB	2 +	1
1709083	COL4A2	c.3608G>A	p.Gly1203Asp (p.G1203D)	NM_001846.4 M	SNV	VUS	1 +	1
2430156	COL4A2	c.3369G>C	p.Glu1123Asp (p.E1123D)	NM_001846.4 M	SNV	VUS	1 +	1
1194127	COL4A2	c.360+1G>A	--	NM_001846.4 M	SNV	VUS	2 +	1
1801354	COL4A2	c.4903G>C	p.Gly1635Arg (p.G1635R)	NM_001846.4 M	SNV	VUS	2 +	1
1801355	COL4A2	c.2515G>A	p.Gly839Arg (p.G839R)	NM_001846.4 M	SNV	VUS	2 +	1

14 Results, 20 per Page

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