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Gene: DSC2 & Disease: Familial Isolated Arrhythmogenic Right Ventricular Dysplasia, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
36005	DSC2	c.2194T>G	p.Leu732Val (p.L732V)	NM_024422.6 M	SNV	LB	4 +	12
36005	DSC2	c.2194T>G	p.Leu732Val (p.L732V)	NM_004949.5	SNV	LB	4 +	12
180319	DSC2	c.2365GGA[1]	p.Gly790Del (p.G790del)	NM_024422.6 M	MS	LP	4 +	7
180319	DSC2	c.2365GGA[1]	p.Gly790Del (p.G790del)	NM_004949.5	MS	LP	4 +	7
161222	DSC2	c.1018A>G	p.Thr340Ala (p.T340A)	NM_024422.6 M	SNV	LB	3 +	4
161222	DSC2	c.1018A>G	p.Thr340Ala (p.T340A)	NM_004949.5	SNV	LB	3 +	4
1723380	DSC2	c.2477G>A	p.Trp826Ter (p.W826X)	NM_024422.6 M	SNV	LP	1 +	0
	DSC2	c.2048G>A	p.Trp683Ter (p.W683X)	NM_001406506.1	SNV	LP	1 +	0
	DSC2	c.2048G>A	p.Trp683Ter (p.W683X)	NM_001406507.1	SNV	LP	1 +	0
	DSC2	c.2477G>A	p.Trp826Ter (p.W826X)	NM_004949.5	SNV	LP	1 +	0

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