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Mutation Direct

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Gene: KIF1C & Disease: Spastic Ataxia 2, 397 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2180543	KIF1C	c.608G>A	p.Arg203Gln (p.R203Q)	NM_006612.6 M	SNV	VUS	2 +	3
385057	KIF1C	c.1751-7T>A	--	NM_006612.6 M	SNV	B	3 +	2
385064	KIF1C	c.1815G>A	p.Leu605= (p.L605=)	NM_006612.6 M	SNV	LB	3 +	2
639076	KIF1C	c.798+3G>T	--	NM_006612.6 M	SNV	VUS	2 +	2
872583	KIF1C	c.527C>T	p.Pro176Leu (p.P176L)	NM_006612.6 M	SNV	P	2 +	2
872584	KIF1C	c.714G>A	p.Ser238= (p.S238=)	NM_006612.6 M	SNV	LB	3 +	2
1017991	KIF1C	c.363+4C>T	--	NM_006612.6 M	SNV	VUS	2 +	2
536736	KIF1C	c.339A>G	p.Pro113= (p.P113=)	NM_006612.6 M	SNV	LB	3 +	2
432326	KIF1C	c.2578G>A	p.Ala860Thr (p.A860T)	NM_006612.6 M	SNV	VUS	3 +	2
1075456	KIF1C	c.726_727insCC	p.Lys243fs (p.K243fs)	NM_006612.6 M	Ins	P	2 +	2
209167	KIF1C	c.2734C>T	p.Arg912Trp (p.R912W)	NM_006612.6 M	SNV	LB	3 +	2
381280	KIF1C	c.1937+11G>T	--	NM_006612.6 M	SNV	B	2 +	2
835940	KIF1C	c.798+5G>A	--	NM_006612.6 M	SNV	VUS	2 +	2
705102	KIF1C	c.1750+6_1750+8del	--	NM_006612.6 M	MS	LB	3 +	2
1004180	KIF1C	c.3121C>T	p.Arg1041Trp (p.R1041W)	NM_006612.6 M	SNV	VUS	3 +	2
838308	KIF1C	c.1571+5C>T	--	NM_006612.6 M	SNV	VUS	2 +	2
383662	KIF1C	c.153C>T	p.Thr51= (p.T51=)	NM_006612.6 M	SNV	LB	3 +	2
383663	KIF1C	c.2726C>A	p.Pro909Gln (p.P909Q)	NM_006612.6 M	SNV	B	3 +	2
385724	KIF1C	c.1365C>T	p.Asn455= (p.N455=)	NM_006612.6 M	SNV	LB	3 +	2
101066	KIF1C	c.2191C>T	p.Arg731Ter (p.R731X)	NM_006612.6 M	SNV	P	2 +	2

397 Results, 20 per Page

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