"PreventionGenetics, part of Exact Sciences"[submitter] AND "PKP2"[gen - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201969	NM_001005242.3(PKP2):c.2446-8T>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 201959	NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)	PKP2 (V842I +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GConflicting classifications of pathogenicity
Select item 45070	NM_001005242.3(PKP2):c.2357+13_2357+14insC	PKP2	Insertion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 45068	NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	PKP2 (R811S +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 45067	NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)	PKP2 (T798A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 496258	NM_001005242.3(PKP2):c.2168-4G>C	PKP2	Single nucleotide variant (intron variant)	PKP2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 201958	NM_001005242.3(PKP2):c.2168-6T>C	PKP2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 45064	NM_001005242.3(PKP2):c.2167+7C>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GBenign
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GPathogenic
Select item 259441	NM_001005242.3(PKP2):c.2013+45G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GBenign
Select item 192128	NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)	PKP2 (N696S +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 45053	NM_001005242.3(PKP2):c.1863G>A (p.Pro621=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GBenign/Likely benign
Select item 180474	NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)	PKP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 496255	NM_001005242.3(PKP2):c.1680G>A (p.Thr560=)	PKP2	Single nucleotide variant (synonymous variant)	PKP2-related disorder +4 more	GLikely benign
Select item 36681	NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)	PKP2 (V587I +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 927969	NM_001005242.3(PKP2):c.1573G>A (p.Gly525Ser)	PKP2 (G569S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 45040	NM_001005242.3(PKP2):c.1557-8dup	PKP2	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 178106	NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)	PKP2 (A546T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +6 more	GBenign/Likely benign
Select item 842385	NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile)	PKP2 (N530I +1 more)	Single nucleotide variant (missense variant)	PKP2-related disorder +3 more	GUncertain significance
Select item 78974	NM_001005242.3(PKP2):c.1379-1998C>T	PKP2 (R497*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GConflicting classifications of pathogenicity
Select item 179026	NM_001005242.3(PKP2):c.1379-2019C>T	PKP2 (R490W)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +9 more	GConflicting classifications of pathogenicity
Select item 45025	NM_001005242.3(PKP2):c.1379-2054C>T	PKP2 (A478V)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 191765	NM_001005242.3(PKP2):c.1379-2066C>T	PKP2 (A474V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 45024	NM_001005242.3(PKP2):c.1379-2067G>A	PKP2 (A474T)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 220944	NM_001005242.3(PKP2):c.1379-2068C>T	PKP2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 406546	NM_001005242.3(PKP2):c.1379-2072C>T	PKP2 (P472L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 45021	NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)	PKP2 (I458V)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 45016	NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	PKP2 (R413*)	Single nucleotide variant (nonsense)	Familial isolated arrhythmogenic right ventricular dysplasia +6 more	GPathogenic
Select item 201981	NM_001005242.3(PKP2):c.1170+5G>A	PKP2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 202016	NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs)	PKP2 (F376fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GPathogenic
Select item 45007	NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)	PKP2 (A372P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 45006	NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)	PKP2 (L366P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
Select item 45003	NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)	PKP2 (T338A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 45081	NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)	PKP2 (S169G)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 380237	NM_001005242.3(PKP2):c.406G>A (p.Val136Met)	PKP2 (V136M)	Single nucleotide variant (missense variant)	PKP2-related disorder +4 more	GBenign/Likely benign
Select item 45057	NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)	PKP2 (S70I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 45030	NM_001005242.3(PKP2):c.156G>A (p.Lys52=)	PKP2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 308518	NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg)	PKP2 (Q49R)	Single nucleotide variant (missense variant)	PKP2-related disorder +3 more	GUncertain significance
Select item 45084	NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)	PKP2 (D26N)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign

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Items: 39