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Gene: EXT2 & Disease: Hereditary Multiple Exostoses, 23 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1320295	EXT2	c.1079+5G>A	--	NM_207122.2 M	SNV	VUS	4 +	2
788070	EXT2	c.382C>T	p.Arg128Trp (p.R128W)	NM_207122.2 M	SNV	LB	5 +	2
1320295	EXT2	c.1079+5G>A	--	NM_001389630.1	SNV	VUS	4 +	2
	EXT2	c.1079+5G>A	--	NM_001178083.3	SNV	VUS	4 +	2
	EXT2	c.1178+5G>A	--	NM_000401.3	SNV	VUS	4 +	2
	EXT2	c.1079+5G>A	--	NM_001389628.1	SNV	VUS	4 +	2
788070	EXT2	c.481C>T	p.Arg161Trp (p.R161W)	NM_000401.3	SNV	LB	5 +	2
	EXT2	c.382C>T	p.Arg128Trp (p.R128W)	NM_001178083.3	SNV	LB	5 +	2
	EXT2	c.382C>T	p.Arg128Trp (p.R128W)	NM_001389628.1	SNV	LB	5 +	2
	EXT2	c.382C>T	p.Arg128Trp (p.R128W)	NM_001389630.1	SNV	LB	5 +	2
1184718	EXT2	c.626+3A>C	--	NM_207122.2 M	SNV	VUS	3 +	0
1320294	EXT2	c.922T>C	p.Tyr308His (p.Y308H)	NM_207122.2 M	SNV	VUS	3 +	0
1691544	EXT2	c.-30-10T>A	--	NM_207122.2 M	SNV	VUS	3 +	0
1184718	EXT2	c.725+3A>C	--	NM_000401.3	SNV	VUS	3 +	0
1184718	EXT2	c.626+3A>C	--	NM_001178083.3	SNV	VUS	3 +	0
1320294	EXT2	c.1021T>C	p.Tyr341His (p.Y341H)	NM_000401.3	SNV	VUS	3 +	0
	EXT2	c.922T>C	p.Tyr308His (p.Y308H)	NM_001178083.3	SNV	VUS	3 +	0
	EXT2	c.922T>C	p.Tyr308His (p.Y308H)	NM_001389628.1	SNV	VUS	3 +	0
	EXT2	c.922T>C	p.Tyr308His (p.Y308H)	NM_001389630.1	SNV	VUS	3 +	0
1691544	EXT2	c.-30-10T>A	--	NM_001389630.1	SNV	VUS	3 +	0

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