C1836906[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1929076	NM_001005242.3(PKP2):c.2369A>G (p.Asn790Ser)	PKP2 (N790S +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 178879	NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1171737	NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)	PKP2 (G773R +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
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 378369	NM_001005242.3(PKP2):c.2168-19T>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GBenign/Likely benign
Select item 188661	NM_001005242.3(PKP2):c.2168-21_2168-20del	PKP2	Deletion (intron variant)	not specified +1 more	GBenign
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 993385	NM_001005242.3(PKP2):c.2048A>G (p.Lys683Arg)	PKP2 (K683R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 45058	NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)	PKP2 (T710M +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GUncertain significance
Select item 464416	NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg)	PKP2 (K643R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 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 202035	NM_001005242.3(PKP2):c.1511del (p.Gly504fs)	PKP2 (G504fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 45035	NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)	PKP2 (I531S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +6 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 518485	NM_001005242.3(PKP2):c.1379-2A>T	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GPathogenic/Likely pathogenic
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 698843	NM_001005242.3(PKP2):c.1379-2071G>A	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 45023	NM_001005242.3(PKP2):c.1379-2109G>A	PKP2	Single nucleotide variant (intron variant +1 more)	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 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)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GBenign
Select item 629764	NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)	PKP2 (G328A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45085	NM_001005242.3(PKP2):c.791C>T (p.Ala264Val)	PKP2 (A264V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GBenign/Likely benign
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 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 45076	NM_001005242.3(PKP2):c.302G>A (p.Arg101His)	PKP2 (R101H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GConflicting classifications of pathogenicity
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 45052	NM_001005242.3(PKP2):c.195C>T (p.Ala65=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GConflicting classifications of pathogenicity
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 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: 34