"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 6757	NM_001005242.3(PKP2):c.2357+1G>A	PKP2	Single nucleotide variant (splice donor variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +7 more	GPathogenic
Select item 45068	NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	PKP2 (R811S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +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)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GConflicting classifications of pathogenicity
Select item 201965	NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)	PKP2 (C796R +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic
Select item 522207	NM_001005242.3(PKP2):c.2168-11dup	PKP2	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 9	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 1297670	NM_001005242.3(PKP2):c.2126T>C (p.Leu709Pro)	PKP2 (L709P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 188659	NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GLikely benign
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 179929	NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)	PKP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 45055	NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	PKP2 (S688P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 36681	NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)	PKP2 (V587I +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +7 more	GConflicting classifications of pathogenicity
Select item 45040	NM_001005242.3(PKP2):c.1557-8dup	PKP2	Duplication (intron variant)	PKP2-related condition +4 more	GBenign/Likely benign
Select item 45039	NM_001005242.3(PKP2):c.1556+9A>G	PKP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 179991	NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GBenign/Likely benign
Select item 45033	NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	PKP2 (T526M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 968623	NM_001005242.3(PKP2):c.1432G>A (p.Glu478Lys)	PKP2 (E522K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 45029	NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)	PKP2 (N517S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 138693	NM_001005242.3(PKP2):c.1379-18A>G	PKP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1284967	NM_001005242.3(PKP2):c.1379-2114G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 45015	NM_001005242.3(PKP2):c.1211dup (p.Val406fs)	PKP2 (V406fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GPathogenic
Select item 45013	NM_001005242.3(PKP2):c.1171-10T>C	PKP2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45014	NM_001005242.3(PKP2):c.1171-11T>C	PKP2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 45008	NM_001005242.3(PKP2):c.1116T>C (p.Ala372=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GBenign/Likely benign
Select item 45006	NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)	PKP2 (L366P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GBenign
Select item 45092	NM_001005242.3(PKP2):c.972G>A (p.Ala324=)	PKP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 45090	NM_001005242.3(PKP2):c.951G>A (p.Ala317=)	PKP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 45089	NM_001005242.3(PKP2):c.939C>T (p.Ser313=)	PKP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 522296	NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)	PKP2 (R299C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 45086	NM_001005242.3(PKP2):c.819G>A (p.Pro273=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign
Select item 164966	NM_001005242.3(PKP2):c.714G>A (p.Pro238=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 406544	NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)	PKP2 (P238L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 45083	NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)	PKP2 (A236S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 45081	NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)	PKP2 (S169G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +7 more	GConflicting classifications of pathogenicity
Select item 45079	NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)	PKP2 (S155T)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 45077	NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)	PKP2 (S140F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GConflicting classifications of pathogenicity
Select item 164969	NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)	PKP2 (S140T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 202027	NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)	PKP2 (Q133*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 9 +3 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 45057	NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)	PKP2 (S70I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GBenign/Likely benign
Select item 161332	NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)	PKP2 (Q62K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 45043	NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)	PKP2 (E58D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 522297	NM_001005242.3(PKP2):c.165G>T (p.Arg55=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 45084	NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)	PKP2 (D26N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +6 more	GBenign/Likely benign

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Items: 45