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Gene: ADAMTS10 & Disease: WMS1, 229 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1946	ADAMTS10	c.810+1G>A	--	NM_030957.4 M	SNV	P	1 +	3
518307	ADAMTS10	c.3303T>G	p.His1101Gln (p.H1101Q)	NM_030957.4 M	SNV	B	1 +	2
2169297	ADAMTS10	c.629G>A	p.Arg210Gln (p.R210Q)	NM_030957.4 M	SNV	VUS	1 +	2
1934151	ADAMTS10	c.1183G>A	p.Gly395Arg (p.G395R)	NM_030957.4 M	SNV	LP	1 +	2
330601	ADAMTS10	c.1588-7C>G	--	NM_030957.4 M	SNV	LB	3 +	2
330610	ADAMTS10	c.401=	p.Ser134= (p.S134=)	NM_030957.4 M	SNV	B	3 +	2
1647629	ADAMTS10	c.68C>T	p.Thr23Met (p.T23M)	NM_030957.4 M	SNV	LB	1 +	2
787569	ADAMTS10	c.2403+4A>G	--	NM_030957.4 M	SNV	LB	3 +	2
625879	ADAMTS10	c.350C>T	p.Ala117Val (p.A117V)	NM_030957.4 M	SNV	LB	1 +	2
625880	ADAMTS10	c.1920G>A	p.Ser640= (p.S640=)	NM_030957.4 M	SNV	LB	1 +	2
235214	ADAMTS10	c.2157C>G	p.Ala719= (p.A719=)	NM_030957.4 M	SNV	LB	3 +	2
518307	ADAMTS10	c.1764T>G	p.His588Gln (p.H588Q)	NM_001282352.2	SNV	B	1 +	2
330601	ADAMTS10	c.53C>G	p.Pro18Arg (p.P18R)	NM_001282352.2	SNV	LB	3 +	2
787569	ADAMTS10	c.864+4A>G	--	NM_001282352.2	SNV	LB	3 +	2
625880	ADAMTS10	c.381G>A	p.Ser127= (p.S127=)	NM_001282352.2	SNV	LB	1 +	2
235214	ADAMTS10	c.618C>G	p.Ala206= (p.A206=)	NM_001282352.2	SNV	LB	3 +	2
729473	ADAMTS10	c.1480-4G>T	--	NM_030957.4 M	SNV	LB	3 +	1
715179	ADAMTS10	c.2016C>T	p.Cys672= (p.C672=)	NM_030957.4 M	SNV	LB	3 +	1
715259	ADAMTS10	c.1743C>T	p.Ile581= (p.I581=)	NM_030957.4 M	SNV	LB	3 +	1
715260	ADAMTS10	c.217G>A	p.Glu73Lys (p.E73K)	NM_030957.4 M	SNV	LB	3 +	1

229 Results, 20 per Page

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