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Gene: TOR1A & Disease: Dystonia, 68 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5180	TOR1A	c.907_909del	--	NM_000113.3 M	MS	P	3 +	31
5180	TOR1A	c.904GAG[1]	p.Glu303Del (p.E303del)	NM_000113.3 M	MS	P	3 +	31
18438	TOR1A	c.613T>A	p.Phe205Ile (p.F205I)	NM_000113.3 M	SNV	P	2 +	9
5182	TOR1A	c.646G>C	p.Asp216His (p.D216H)	NM_000113.3 M	SNV	LB	3 +	6
1365748	TOR1A	c.620+6G>A	--	NM_000113.3 M	SNV	VUS	1 +	3
1016421	TOR1A	c.179-3C>T	--	NM_000113.3 M	SNV	VUS	1 +	2
255134	TOR1A	c.246C>T	p.Ala82= (p.A82=)	NM_000113.3 M	SNV	B	2 +	2
255137	TOR1A	c.749-11C>A	--	NM_000113.3 M	SNV	B	2 +	2
255138	TOR1A	c.813C>G	p.Pro271= (p.P271=)	NM_000113.3 M	SNV	LB	1 +	2
1981617	TOR1A	c.749-3C>T	--	NM_000113.3 M	SNV	VUS	1 +	2
1556503	TOR1A	c.609C>T	p.Phe203= (p.F203=)	NM_000113.3 M	SNV	LB	1 +	1
852503	TOR1A	c.769T>G	p.Leu257Val (p.L257V)	NM_000113.3 M	SNV	VUS	1 +	1
2038810	TOR1A	c.748+19C>T	--	NM_000113.3 M	SNV	LB	1 +	1
2156061	TOR1A	c.996T>C	p.Asp332= (p.D332=)	NM_000113.3 M	SNV	LB	1 +	1
2157604	TOR1A	c.124C>A	p.Leu42Ile (p.L42I)	NM_000113.3 M	SNV	VUS	1 +	1
933433	TOR1A	c.935G>A	p.Arg312Lys (p.R312K)	NM_000113.3 M	SNV	VUS	1 +	1
2190395	TOR1A	c.886A>G	p.Ile296Val (p.I296V)	NM_000113.3 M	SNV	VUS	1 +	1
695357	TOR1A	c.819A>G	p.Glu273= (p.E273=)	NM_000113.3 M	SNV	B	1 +	1
695881	TOR1A	c.561C>T	p.Leu187= (p.L187=)	NM_000113.3 M	SNV	LB	2 +	1
1614412	TOR1A	c.444+19A>G	--	NM_000113.3 M	SNV	LB	1 +	1

68 Results, 20 per Page

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