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Gene: SCARB2 & Disease: EPM4, 174 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7378	SCARB2	c.862C>T	p.Gln288Ter (p.Q288X)	NM_005506.4 M	SNV	P	4 +	8
7378	SCARB2	c.433C>T	p.Gln145Ter (p.Q145X)	NM_001204255.2	SNV	P	4 +	8
7377	SCARB2	c.434_435dup	p.Trp146fs (p.W146fs)	NM_005506.4 M	MS	P	4 +	6
7377	SCARB2	c.276-3787AG[3]	--	NM_001204255.2	MS	P	4 +	6
268139	SCARB2	c.704+1G>A	--	NM_005506.4 M	SNV	P	4 +	5
268141	SCARB2	c.704+5G>A	--	NM_005506.4 M	SNV	VUS	4 +	5
268139	SCARB2	c.276-526G>A	--	NM_001204255.2	SNV	P	4 +	5
268141	SCARB2	c.276-522G>A	--	NM_001204255.2	SNV	VUS	4 +	5
30259	SCARB2	c.1187+2dup	--	NM_005506.4 M	Dup	P	4 +	4
268146	SCARB2	c.1270C>T	p.Arg424Ter (p.R424X)	NM_005506.4 M	SNV	P	4 +	4
30259	SCARB2	c.758+2dup	--	NM_001204255.2	Dup	P	4 +	4
268146	SCARB2	c.841C>T	p.Arg281Ter (p.R281X)	NM_001204255.2	SNV	P	4 +	4
268138	SCARB2	c.666_670del	p.Tyr222_Asn224delinsTer	NM_005506.4 M	Del	P	1 +	3
206701	SCARB2	c.445G>A	p.Val149Met (p.V149M)	NM_005506.4 M	SNV	LB	4 +	3
268147	SCARB2	c.1385_1390delinsATGCATGCACC	p.Gly462fs (p.G462fs)	NM_005506.4 M	Indel	VUS	1 +	3
206709	SCARB2	c.361C>T	p.Arg121Ter (p.R121X)	NM_005506.4 M	SNV	P	4 +	3
268138	SCARB2	c.276-565_276-561del	--	NM_001204255.2	Del	P	1 +	3
206701	SCARB2	c.276-3774G>A	--	NM_001204255.2	SNV	LB	4 +	3
268147	SCARB2	c.956_961delinsATGCATGCACC	p.Gly319fs (p.G319fs)	NM_001204255.2	Indel	VUS	1 +	3
206709	SCARB2	c.276-5106C>T	--	NM_001204255.2	SNV	P	4 +	3

174 Results, 20 per Page

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