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Gene: VPS45 & Disease: SCN5, 1185 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
55907	VPS45	c.712G>A	p.Glu238Lys (p.E238K)	NM_007259.5 M	SNV	P	2 +	3
	VPS45	c.397G>A	p.Glu133Lys (p.E133K)	NM_001279353.2	SNV	P	2 +	3
	VPS45	c.604G>A	p.Glu202Lys (p.E202K)	NM_001279354.2	SNV	P	2 +	3
2148496	VPS45	c.687+5A>G	--	NM_007259.5 M	SNV	VUS	2 +	2
966855	VPS45	c.687G>C	p.Gln229His (p.Q229H)	NM_007259.5 M	SNV	VUS	2 +	2
55906	VPS45	c.671C>A	p.Thr224Asn (p.T224N)	NM_007259.5 M	SNV	P	2 +	2
658240	VPS45	c.1174G>A	p.Ala392Thr (p.A392T)	NM_007259.5 M	SNV	VUS	2 +	2
437261	VPS45	c.318C>T	p.Asp106= (p.D106=)	NM_007259.5 M	SNV	LB	2 +	2
1475739	VPS45	c.93G>A	p.Thr31= (p.T31=)	NM_007259.5 M	SNV	VUS	2 +	2
1430772	VPS45	c.576+4T>C	--	NM_007259.5 M	SNV	VUS	2 +	2
647131	VPS45	c.1371+5A>G	--	NM_007259.5 M	SNV	VUS	2 +	2
2148496	VPS45	c.372+5A>G	--	NM_001279353.2	SNV	VUS	2 +	2
2148496	VPS45	c.579+5A>G	--	NM_001279354.2	SNV	VUS	2 +	2
966855	VPS45	c.372G>C	p.Gln124His (p.Q124H)	NM_001279353.2	SNV	VUS	2 +	2
966855	VPS45	c.579G>C	p.Gln193His (p.Q193H)	NM_001279354.2	SNV	VUS	2 +	2
55906	VPS45	c.356C>A	p.Thr119Asn (p.T119N)	NM_001279353.2	SNV	P	2 +	2
55906	VPS45	c.563C>A	p.Thr188Asn (p.T188N)	NM_001279354.2	SNV	P	2 +	2
658240	VPS45	c.859G>A	p.Ala287Thr (p.A287T)	NM_001279353.2	SNV	VUS	2 +	2
658240	VPS45	c.1066G>A	p.Ala356Thr (p.A356T)	NM_001279354.2	SNV	VUS	2 +	2
437261	VPS45	c.210C>T	p.Asp70= (p.D70=)	NM_001279353.2	SNV	LB	2 +	2

1185 Results, 20 per Page

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