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Gene: B3GAT3 & Disease: SEDCJD, 676 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1503077	B3GAT3	c.619-1G>A	--	NM_012200.4 M	SNV	LP	3 +	3
	B3GAT3	c.619-1G>A	--	NM_001288722.2	SNV	LP	3 +	3
	B3GAT3	c.619-1G>A	--	NM_001288723.2	SNV	LP	3 +	3
	B3GAT3	c.598-1G>A	--	NM_001288721.2	SNV	LP	3 +	3
1350154	B3GAT3	c.910-3C>T	--	NM_012200.4 M	SNV	VUS	3 +	2
1995805	B3GAT3	c.135del	p.Gln46fs (p.Q46fs)	NM_012200.4 M	Del	P	3 +	2
2137125	B3GAT3	c.1A>G	p.Met1Val (p.M1V)	NM_012200.4 M	SNV	LP	3 +	2
2140203	B3GAT3	c.82+3G>A	--	NM_012200.4 M	SNV	VUS	3 +	2
1991215	B3GAT3	c.82G>A	p.Gly28Ser (p.G28S)	NM_012200.4 M	SNV	VUS	3 +	2
1998893	B3GAT3	c.126_154dup	p.Ser52delinsCysSerTyrGlyArgArgIleTer (p.S52delinsCysSerTyrGlyArgArgIleTer)	NM_012200.4 M	Dup	P	3 +	2
1029180	B3GAT3	c.980G>A	p.Arg327Gln (p.R327Q)	NM_012200.4 M	SNV	VUS	3 +	2
1381440	B3GAT3	c.909G>T	p.Arg303= (p.R303=)	NM_012200.4 M	SNV	VUS	3 +	2
1174609	B3GAT3	c.1A>T	p.Met1Leu (p.M1L)	NM_012200.4 M	SNV	P	3 +	2
1212504	B3GAT3	c.2T>C	p.Met1Thr (p.M1T)	NM_012200.4 M	SNV	P	3 +	2
1520748	B3GAT3	c.416C>T	p.Thr139Met (p.T139M)	NM_012200.4 M	SNV	VUS	3 +	2
1076368	B3GAT3	c.516_517insT	p.Gly173fs (p.G173fs)	NM_012200.4 M	Ins	P	3 +	2
1625322	B3GAT3	c.619-12G>A	--	NM_012200.4 M	SNV	LB	3 +	2
1326841	B3GAT3	c.202C>T	p.Pro68Ser (p.P68S)	NM_012200.4 M	SNV	VUS	3 +	2
1455919	B3GAT3	c.283C>T	p.Arg95Ter (p.R95X)	NM_012200.4 M	SNV	P	3 +	2
577885	B3GAT3	c.175C>T	p.Arg59Ter (p.R59X)	NM_012200.4 M	SNV	P	3 +	2

676 Results, 20 per Page

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