"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PKP2"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464402	NC_000012.11:g.(?_32729272)_(33049685_?)dup	DNM1L, FGD4 +7 more	Duplication	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 584074	NC_000012.12:g.(?_32792404)_(32896751_?)del	LOC129390434, PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2804033	NM_001005242.3(PKP2):c.2511C>T (p.Asp837=)	PKP2 (T774I +1 more)	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 566033	NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro)	PKP2 (L879P +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 308505	NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg)	PKP2 (L879R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 1657133	NM_001005242.3(PKP2):c.2502C>T (p.Ser834=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 533034	NM_001005242.3(PKP2):c.2501C>T (p.Ser834Phe)	PKP2 (S878F +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 191761	NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)	PKP2 (H877Q +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 957066	NM_001005242.3(PKP2):c.2489A>G (p.Lys830Arg)	PKP2 (K874R +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 533046	NM_001005242.3(PKP2):c.2487C>T (p.Ala829=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 2746286	NM_001005242.3(PKP2):c.2485G>A (p.Ala829Thr)	PKP2 (A829T +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 138691	NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)	PKP2 (T872I +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
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 928325	NM_001005242.3(PKP2):c.2479C>T (p.Arg827Trp)	PKP2 (R827W +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 2791226	NM_001005242.3(PKP2):c.2474A>C (p.Asn825Thr)	PKP2 (N869T +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2774072	NM_001005242.3(PKP2):c.2473A>G (p.Asn825Asp)	PKP2 (N716D +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 2956382	NM_001005242.3(PKP2):c.2471T>G (p.Val824Gly)	PKP2 (S761A +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 571699	NM_001005242.3(PKP2):c.2471T>A (p.Val824Asp)	PKP2 (V868D +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 1982915	NM_001005242.3(PKP2):c.2470G>A (p.Val824Ile)	PKP2 (V824I +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 960389	NM_001005242.3(PKP2):c.2466_2469del (p.Asp822fs)	PKP2 (D822fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2906686	NM_001005242.3(PKP2):c.2462C>T (p.Thr821Ile)	PKP2 (T766I +5 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2774073	NM_001005242.3(PKP2):c.2461A>G (p.Thr821Ala)	PKP2 (T821A +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 2707913	NM_001005242.3(PKP2):c.2460G>A (p.Lys820=)	PKP2 (R648K +1 more)	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 533047	NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)	PKP2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 642742	NM_001005242.3(PKP2):c.2455A>C (p.Lys819Gln)	PKP2 (K863Q +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 1017780	NM_001005242.3(PKP2):c.2454T>G (p.Phe818Leu)	PKP2 (F818L +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2776470	NM_001005242.3(PKP2):c.2448T>C (p.Ala816=)	PKP2 (L753P +1 more)	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 406558	NM_001005242.3(PKP2):c.2446-2A>C	PKP2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 958725	NM_001005242.3(PKP2):c.2446-3A>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 2774074	NM_001005242.3(PKP2):c.2446-4A>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 2097418	NM_001005242.3(PKP2):c.2446-5del	PKP2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 1582133	NM_001005242.3(PKP2):c.2446-8T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 201969	NM_001005242.3(PKP2):c.2446-8T>G	PKP2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 45074	NM_001005242.3(PKP2):c.2446-10dup	PKP2	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GConflicting classifications of pathogenicity
Select item 2148051	NM_001005242.3(PKP2):c.2446-11T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2888670	NM_001005242.3(PKP2):c.2446-17G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 406553	NM_001005242.3(PKP2):c.2437_2445+41del	PKP2	Deletion (splice donor variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 2179676	NM_001005242.3(PKP2):c.2445+18G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2149376	NM_001005242.3(PKP2):c.2445+17G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 1655478	NM_001005242.3(PKP2):c.2445+16A>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 1951019	NM_001005242.3(PKP2):c.2445+11G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 882412	NM_001005242.3(PKP2):c.2445+11G>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GConflicting classifications of pathogenicity
Select item 1152561	NM_001005242.3(PKP2):c.2445+9A>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 1611129	NM_001005242.3(PKP2):c.2445+8C>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 954103	NM_001005242.3(PKP2):c.2445+3A>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
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 45073	NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)	PKP2 (H854Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2154307	NM_001005242.3(PKP2):c.2427G>A (p.Leu809=)	PKP2 (C746Y +1 more)	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 464426	NM_001005242.3(PKP2):c.2422del (p.Glu808fs)	PKP2 (E852fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic/Likely pathogenic
Select item 180048	NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys)	PKP2 (E852K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 512256	NM_001005242.3(PKP2):c.2421G>A (p.Thr807=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 45072	NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)	PKP2 (T851M +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1125608	NM_001005242.3(PKP2):c.2418C>T (p.His806=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 2421332	NM_001005242.3(PKP2):c.2415A>G (p.Ala805=)	PKP2 (H633R +1 more)	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 1369432	NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs)	PKP2 (L847fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 464427	NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)	PKP2 (W848S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GUncertain significance
Select item 1172117	NM_001005242.3(PKP2):c.2409G>A (p.Leu803=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GLikely benign
Select item 1400536	NM_001005242.3(PKP2):c.2405C>T (p.Ser802Phe)	PKP2 (S802F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 201968	NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr)	PKP2 (S846Y +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2839118	NM_001005242.3(PKP2):c.2404del (p.Ser802fs)	PKP2 (L630fs +5 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 1362428	NM_001005242.3(PKP2):c.2404T>C (p.Ser802Pro)	PKP2 (S802P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 926200	NM_001005242.3(PKP2):c.2404T>G (p.Ser802Ala)	PKP2 (S802A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 406556	NM_001005242.3(PKP2):c.2402A>T (p.Tyr801Phe)	PKP2 (Y845F +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 201967	NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro)	PKP2 (L844P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GConflicting classifications of pathogenicity
Select item 1171787	NM_001005242.3(PKP2):c.2398C>T (p.Leu800=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 201959	NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)	PKP2 (V842I +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 927566	NM_001005242.3(PKP2):c.2391C>T (p.Ser797=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 1642992	NM_001005242.3(PKP2):c.2388T>G (p.Ala796=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 78972	NM_001005242.3(PKP2):c.2387C>T (p.Ala796Val)	PKP2 (A840V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 2964183	NM_001005242.3(PKP2):c.2384C>T (p.Ala795Val)	PKP2 (A740V +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2833539	NM_001005242.3(PKP2):c.2383G>A (p.Ala795Thr)	PKP2 (A839T +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 649512	NM_001005242.3(PKP2):c.2380A>G (p.Lys794Glu)	PKP2 (K838E +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 1123444	NM_001005242.3(PKP2):c.2379T>C (p.Ser793=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 177995	NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	PKP2 (S793fs)	Deletion (frameshift variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 1036524	NM_001005242.3(PKP2):c.2375C>A (p.Ala792Glu)	PKP2 (A836E +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2845003	NM_001005242.3(PKP2):c.2374G>A (p.Ala792Thr)	PKP2 (A792T +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 919036	NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)	PKP2 (K791R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 533038	NM_001005242.3(PKP2):c.2370C>G (p.Asn790Lys)	PKP2 (N834K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
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 2814766	NM_001005242.3(PKP2):c.2368A>G (p.Asn790Asp)	PKP2 (N790D +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2029806	NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs)	PKP2 (Y831fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 847585	NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val)	PKP2 (A788V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1017469	NM_001005242.3(PKP2):c.2362G>T (p.Ala788Ser)	PKP2 (A788S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2735817	NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)	PKP2 (M615K +5 more)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GPathogenic
Select item 191762	NM_001005242.3(PKP2):c.2360A>G (p.Tyr787Cys)	PKP2 (Y831C +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 936764	NM_001005242.3(PKP2):c.2358-1_2358delinsTT	PKP2	Indel (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 517935	NM_001005242.3(PKP2):c.2358C>T (p.Ala786=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 582147	NM_001005242.3(PKP2):c.2358-3C>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 414019	NM_001005242.3(PKP2):c.2358-6T>C	PKP2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 742317	NM_001005242.3(PKP2):c.2358-9T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2084569	NM_001005242.3(PKP2):c.2358-10T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 3014068	NM_001005242.3(PKP2):c.2358-14C>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 1570608	NM_001005242.3(PKP2):c.2358-19A>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 3009769	NM_001005242.3(PKP2):c.2358-20G>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 45070	NM_001005242.3(PKP2):c.2357+13_2357+14insC	PKP2	Insertion (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GBenign/Likely benign
Select item 2848788	NM_001005242.3(PKP2):c.2357+13G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2004247	NM_001005242.3(PKP2):c.2357+6T>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 941645	NM_001005242.3(PKP2):c.2357+6T>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 432656	NM_001005242.3(PKP2):c.2357+5G>A	PKP2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45071	NM_001005242.3(PKP2):c.2357+1G>T	PKP2	Single nucleotide variant (splice donor variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GPathogenic/Likely pathogenic

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