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Gene: RYR2 & Disease: Heart Conduction Disease, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
161381	RYR2	c.3038G>A	p.Arg1013Gln (p.R1013Q)	NM_001035.3 M	SNV	LB	3 +	13
191546	RYR2	c.12919C>T	p.Arg4307Cys (p.R4307C)	NM_001035.3 M	SNV	LB	3 +	10
191483	RYR2	c.5923A>G	p.Met1975Val (p.M1975V)	NM_001035.3 M	SNV	LB	3 +	4
178121	RYR2	c.6320C>T	p.Thr2107Met (p.T2107M)	NM_001035.3 M	SNV	VUS	3 +	3
229220	RYR2	c.5416G>A	p.Ala1806Thr (p.A1806T)	NM_001035.3 M	SNV	VUS	3 +	1
978366	RYR2	c.9848T>A	p.Ile3283Asn (p.I3283N)	NM_001035.3 M	SNV	LP	2 +	0
684806	RYR2	c.243G>A	p.Met81Ile (p.M81I)	NM_001035.3 M	SNV	LP	2 +	0

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