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Gene: PKP2 & Disease: Familial Isolated Arrhythmogenic Right Ventricular Dysplasia, 57 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6757	PKP2	c.2357+1G>A	--	NM_001005242.3 M	SNV	P	3 +	46
	PKP2	c.2192+1G>A	--	NM_001407156.1	SNV	P	3 +	46
	PKP2	c.2168-3377G>A	--	NM_001407155.1	SNV	P	3 +	46
	PKP2	c.2489+1G>A	--	NM_004572.4	SNV	P	3 +	46
	PKP2	c.1841-3377G>A	--	NM_001407160.1	SNV	P	3 +	46
	PKP2	c.2030+1G>A	--	NM_001407159.1	SNV	P	3 +	46
	PKP2	c.2030+1G>A	--	NM_001407158.1	SNV	P	3 +	46
45028	PKP2	c.148_151del	p.Thr50fs (p.T50fs)	NM_001005242.3 M	Del	P	3 +	39
	PKP2	c.148_151delACAG	--	NM_004572.4	Del	P	3 +	39
	PKP2	c.148_151del	p.Thr50fs (p.T50fs)	NM_004572.4	Del	P	3 +	39
36680	PKP2	c.1481G>A	p.Trp494Ter (p.W494X)	NM_001005242.3 M	SNV	P	3 +	24
36680	PKP2	c.1613G>A	p.Trp538Ter (p.W538X)	NM_004572.4	SNV	P	3 +	24
177995	PKP2	c.2377del	p.Ser793fs (p.S793fs)	NM_001005242.3 M	Del	P	3 +	23
177995	PKP2	c.2509del	p.Ser837fs (p.S837fs)	NM_004572.4	Del	P	3 +	23
45016	PKP2	c.1237C>T	p.Arg413Ter (p.R413X)	NM_001005242.3 M	SNV	P	3 +	21
45063	PKP2	c.2065_2070delCACACCinsG	--	NM_001005242.3 M	Indel	P	3 +	21
45063	PKP2	c.2065_2070delinsG	p.His689fs (p.H689fs)	NM_001005242.3 M	Indel	P	3 +	21
45016	PKP2	c.1237C>T	p.Arg413Ter (p.R413X)	NM_004572.4	SNV	P	3 +	21
45063	PKP2	c.2197_2202delinsG	p.His733fs (p.H733fs)	NM_004572.4	Indel	P	3 +	21
202035	PKP2	c.1511del	p.Gly504fs (p.G504fs)	NM_001005242.3 M	Del	P	3 +	18

57 Results, 20 per Page

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