C1836906[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47656	NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)	TTN, TTN-AS1 (K34293E +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_deletion +1 more)	Dilated cardiomyopathy 1P +6 more	GConflicting classifications of pathogenicity
Select item 518248	NM_001005242.3(PKP2):c.2438A>T (p.Tyr813Phe)	PKP2 (Y857F +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
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 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)	Cardiomyopathy +7 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 179097	NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)	PKP2 (I789V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 518249	NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala)	PKP2 (V782A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	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 138695	NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GBenign/Likely benign
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +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 201998	NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)	PKP2 (R651* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 518250	NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter)	PKP2 (Y616* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 36681	NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)	PKP2 (V587I +1 more)	Single nucleotide variant (missense variant)	Ventricular tachycardia +7 more	GConflicting classifications of pathogenicity
Select item 45040	NM_001005242.3(PKP2):c.1557-8dup	PKP2	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 518354	NM_001005242.3(PKP2):c.1520A>G (p.Asp507Gly)	PKP2 (D551G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 45020	NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)	PKP2	Deletion (nonsense)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GPathogenic/Likely pathogenic
Select item 45015	NM_001005242.3(PKP2):c.1211dup (p.Val406fs)	PKP2 (V406fs)	Duplication (frameshift variant)	Cardiac arrhythmia +4 more	GPathogenic
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 45006	NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)	PKP2 (L366P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
Select item 164963	NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)	PKP2 (M365V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 518251	NM_001005242.3(PKP2):c.1034+10C>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign
Select item 45092	NM_001005242.3(PKP2):c.972G>A (p.Ala324=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GBenign/Likely benign
Select item 45090	NM_001005242.3(PKP2):c.951G>A (p.Ala317=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GBenign/Likely benign
Select item 665132	NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly)	PKP2 (R219G)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 45079	NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)	PKP2 (S155T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +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)	not specified +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 6754	NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	PKP2 (R79*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +5 more	GPathogenic
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 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)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 45084	NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)	PKP2 (D26N)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign

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Items: 37