"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PKP2"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 308493	NM_001005242.3(PKP2):c.*330A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308496	NM_001005242.3(PKP2):c.*252A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 1205141	NM_001005242.3(PKP2):c.*202C>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 202025	NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln)	PKP2 (R871Q +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 45073	NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)	PKP2 (H854Y +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 629462	NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val)	PKP2 (G818V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 1171737	NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)	PKP2 (G773R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 382244	NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 403313	NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)	PKP2 (D812N +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 533033	NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)	PKP2 (R811C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 201965	NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)	PKP2 (C796R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 420209	NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)	PKP2 (L771fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 406550	NM_001005242.3(PKP2):c.2168-1G>A	PKP2	Single nucleotide variant (splice acceptor variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely pathogenic
Select item 922560	NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp)	PKP2 (R714W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 635229	NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile)	PKP2 (A705I +1 more)	Indel (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 45063	NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	PKP2 (H689fs +1 more)	Indel (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GPathogenic
Select item 927491	NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu)	PKP2 (S675L +1 more)	Indel (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GPathogenic
Select item 45058	NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)	PKP2 (T710M +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 45056	NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)	PKP2 (R695C +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GUncertain significance
Select item 923221	NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr)	PKP2 (A691T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1171127	NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr)	PKP2 (I639T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 164956	NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys)	PKP2 (N642K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 45049	NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)	PKP2 (Q638* +1 more)	Single nucleotide variant (nonsense)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GPathogenic
Select item 1505869	NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)	PKP2 (R635Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1038787	NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe)	PKP2 (S583F +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 202000	NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn)	PKP2 (Y626N +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 450145	NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GConflicting classifications of pathogenicity
Select item 406549	NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)	PKP2 (A570T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 179991	NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 202019	NM_001005242.3(PKP2):c.1532del (p.Phe511fs)	PKP2 (F511fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GPathogenic
Select item 629332	NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn)	PKP2 (D551N +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 36680	NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)	PKP2 (W538* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 626801	NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)	PKP2 (L509S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GUncertain significance
Select item 518485	NM_001005242.3(PKP2):c.1379-2A>T	PKP2	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 229143	NM_001005242.3(PKP2):c.1379-2018G>A	PKP2 (R490Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 161331	NM_001005242.3(PKP2):c.1379-2022G>A	PKP2 (G489R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 698843	NM_001005242.3(PKP2):c.1379-2071G>A	PKP2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +3 more	GLikely benign
Select item 464411	NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr)	PKP2 (K456T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 1015704	NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln)	PKP2 (E432Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 651972	NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser)	PKP2 (L431S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 45016	NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	PKP2 (R413*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 575242	NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn)	PKP2 (I397N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GUncertain significance
Select item 1413366	NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln)	PKP2 (R388Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 265836	NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)	PKP2 (E380K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GUncertain significance
Select item 464434	NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)	PKP2	Inversion (missense variant)	not provided +4 more	GUncertain significance
Select item 201962	NM_001005242.3(PKP2):c.928G>A (p.Val310Met)	PKP2 (V310M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 925290	NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg)	PKP2 (G269R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 464433	NM_001005242.3(PKP2):c.784C>A (p.Leu262Met)	PKP2 (L262M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 573245	NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu)	PKP2 (R250L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 919574	NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile)	PKP2 (S249I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 406544	NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)	PKP2 (P238L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 581369	NM_001005242.3(PKP2):c.688G>A (p.Val230Ile)	PKP2 (V230I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 566629	NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln)	PKP2 (R185Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 201974	NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)	PKP2 (S183N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GUncertain significance
Select item 1001240	NM_001005242.3(PKP2):c.536A>G (p.His179Arg)	PKP2 (H179R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 202012	NM_001005242.3(PKP2):c.533dup (p.His179fs)	PKP2 (H179fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GPathogenic/Likely pathogenic
Select item 923064	NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)	PKP2 (T162A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 164969	NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)	PKP2 (S140T)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 201970	NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)	PKP2 (W123*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GPathogenic
Select item 464429	NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys)	PKP2 (R122C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 36684	NM_001005242.3(PKP2):c.336+17T>G	PKP2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 379132	NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)	PKP2 (P103T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 464428	NM_001005242.3(PKP2):c.259G>C (p.Val87Leu)	PKP2 (V87L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 6754	NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	PKP2 (R79*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +5 more	GPathogenic
Select item 180471	NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)	PKP2 (Q59L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GConflicting classifications of pathogenicity
Select item 45030	NM_001005242.3(PKP2):c.156G>A (p.Lys52=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 45028	NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	PKP2 (T50fs)	Deletion (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 393010	NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)	PKP2 (G23E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GUncertain significance
Select item 652448	NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)	PKP2	Duplication (inframe_insertion +1 more)	Cardiovascular phenotype +4 more	GUncertain significance

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