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Gene: JPH2 & Disease: Hypertrophic Cardiomyopathy, 474 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30458	JPH2	c.1513G>A	p.Gly505Ser (p.G505S)	NM_020433.5 M	SNV	LB	2 +	5
137607	JPH2	c.1186G>A	p.Ala396Thr (p.A396T)	NM_020433.5 M	SNV	B	4 +	4
372724	JPH2	c.1213G>T	p.Ala405Ser (p.A405S)	NM_020433.5 M	SNV	LP	1 +	4
137602	JPH2	c.156C>T	p.Tyr52= (p.Y52=)	NM_020433.5 M	SNV	B	3 +	3
201796	JPH2	c.572C>G	p.Pro191Arg (p.P191R)	NM_020433.5 M	SNV	LB	1 +	3
201798	JPH2	c.661T>C	p.Phe221Leu (p.F221L)	NM_020433.5 M	SNV	LB	2 +	3
191668	JPH2	c.1951A>G	p.Lys651Glu (p.K651E)	NM_020433.5 M	SNV	VUS	1 +	3
201797	JPH2	c.637C>T	p.Arg213Trp (p.R213W)	NM_020433.5 M	SNV	LB	3 +	3
454467	JPH2	c.1213G>A	p.Ala405Thr (p.A405T)	NM_020433.5 M	SNV	VUS	2 +	3
225099	JPH2	c.692G>A	p.Arg231Gln (p.R231Q)	NM_020433.5 M	SNV	VUS	3 +	3
137602	JPH2	c.156C>T	p.Tyr52= (p.Y52=)	NM_175913.4	SNV	B	3 +	3
430124	JPH2	c.1951AAG[2]	p.Lys653Del (p.K653del)	NM_020433.5 M	MS	VUS	3 +	2
430124	JPH2	c.1957_1959del	--	NM_020433.5 M	MS	VUS	3 +	2
155800	JPH2	c.482C>A	p.Thr161Lys (p.T161K)	NM_020433.5 M	SNV	P	2 +	2
264361	JPH2	c.1357C>T	p.Pro453Ser (p.P453S)	NM_020433.5 M	SNV	VUS	3 +	2
1014082	JPH2	c.1982C>A	p.Ala661Glu (p.A661E)	NM_020433.5 M	SNV	VUS	3 +	2
520524	JPH2	c.1758G>A	p.Glu586= (p.E586=)	NM_020433.5 M	SNV	LB	1 +	2
1407323	JPH2	c.277C>T	p.Arg93Cys (p.R93C)	NM_020433.5 M	SNV	VUS	3 +	2
1378670	JPH2	c.1142G>T	p.Arg381Leu (p.R381L)	NM_020433.5 M	SNV	VUS	1 +	2
850305	JPH2	c.1964G>A	p.Arg655Gln (p.R655Q)	NM_020433.5 M	SNV	VUS	3 +	2

474 Results, 20 per Page

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