"Color Diagnostics, LLC DBA Color Health"[submitter] AND "PKP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 629598	NM_001005242.3(PKP2):c.*5A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GLikely benign
Select item 1331786	NM_001005242.3(PKP2):c.2511_2513delinsATT (p.Asp837_Ter838delinsGluLeu)	PKP2	Indel (stop lost)	Cardiomyopathy	GUncertain significance
Select item 566033	NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro)	PKP2 (L879P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 191761	NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)	PKP2 (H877Q +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GConflicting classifications of pathogenicity
Select item 1171601	NM_001005242.3(PKP2):c.2491G>T (p.Ala831Ser)	PKP2 (A831S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 957066	NM_001005242.3(PKP2):c.2489A>G (p.Lys830Arg)	PKP2 (K874R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +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 138691	NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)	PKP2 (T872I +1 more)	Single nucleotide variant (missense variant)	not specified +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)	Cardiomyopathy +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 +1 more	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 2774073	NM_001005242.3(PKP2):c.2461A>G (p.Thr821Ala)	PKP2 (T821A +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 533047	NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GConflicting classifications of pathogenicity
Select item 928263	NM_001005242.3(PKP2):c.2446G>T (p.Ala816Ser)	PKP2 (A816S +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 925789	NM_001005242.3(PKP2):c.2446G>A (p.Ala816Thr)	PKP2 (A860T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 406558	NM_001005242.3(PKP2):c.2446-2A>C	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 2774074	NM_001005242.3(PKP2):c.2446-4A>G	PKP2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1171257	NM_001005242.3(PKP2):c.2446-9A>G	PKP2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 391454	NM_001005242.3(PKP2):c.2446-9A>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 45074	NM_001005242.3(PKP2):c.2446-10dup	PKP2	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 406553	NM_001005242.3(PKP2):c.2437_2445+41del	PKP2	Deletion (splice donor variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GLikely pathogenic
Select item 45073	NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)	PKP2 (H854Y +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 512256	NM_001005242.3(PKP2):c.2421G>A (p.Thr807=)	PKP2	Single nucleotide variant (synonymous variant)	not specified +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)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GUncertain significance
Select item 2774075	NM_001005242.3(PKP2):c.2419A>G (p.Thr807Ala)	PKP2 (T698A +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1171845	NM_001005242.3(PKP2):c.2416C>G (p.His806Asp)	PKP2 (H806D +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 464427	NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)	PKP2 (W848S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +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 cardiomyopathy +2 more	GLikely benign
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 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 629074	NM_001005242.3(PKP2):c.2402A>G (p.Tyr801Cys)	PKP2 (Y845C +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1171787	NM_001005242.3(PKP2):c.2398C>T (p.Leu800=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular 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)	PKP2-related disorder +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 921069	NM_001005242.3(PKP2):c.2388T>C (p.Ala796=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 649512	NM_001005242.3(PKP2):c.2380A>G (p.Lys794Glu)	PKP2 (K838E +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 177995	NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	PKP2 (S793fs)	Deletion (frameshift variant)	Ventricular tachycardia +6 more	GPathogenic/Likely pathogenic
Select item 1331968	NM_001005242.3(PKP2):c.2376A>G (p.Ala792=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 919036	NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)	PKP2 (K791R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 628719	NM_001005242.3(PKP2):c.2367C>T (p.Ser789=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
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 414019	NM_001005242.3(PKP2):c.2358-6T>C	PKP2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2774076	NM_001005242.3(PKP2):c.2358-15T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 6757	NM_001005242.3(PKP2):c.2357+1G>A	PKP2	Single nucleotide variant (splice donor variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +7 more	GPathogenic
Select item 2080295	NM_001005242.3(PKP2):c.2357C>T (p.Ala786Val)	PKP2 (A731V +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1171547	NM_001005242.3(PKP2):c.2356G>A (p.Ala786Thr)	PKP2 (A786T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 923173	NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro)	PKP2 (A830P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 45069	NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 178105	NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn)	PKP2 (D829N +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 178879	NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GConflicting classifications of pathogenicity
Select item 2774077	NM_001005242.3(PKP2):c.2348C>T (p.Ala783Val)	PKP2 (A728V +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 927656	NM_001005242.3(PKP2):c.2338G>A (p.Ala780Thr)	PKP2 (A780T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
Select item 191763	NM_001005242.3(PKP2):c.2332A>T (p.Ile778Phe)	PKP2 (I822F +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 188664	NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)	PKP2 (I822V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GUncertain significance
Select item 629462	NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val)	PKP2 (G818V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GUncertain significance
Select item 533039	NM_001005242.3(PKP2):c.2321G>A (p.Gly774Asp)	PKP2 (G818D +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
Select item 643226	NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser)	PKP2 (G774S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GUncertain significance
Select item 1171737	NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)	PKP2 (G773R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 382244	NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GLikely benign
Select item 403313	NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)	PKP2 (D812N +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 414016	NM_001005242.3(PKP2):c.2301C>T (p.Arg767=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GLikely benign
Select item 533033	NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)	PKP2 (R811C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 1171310	NM_001005242.3(PKP2):c.2283C>G (p.Asn761Lys)	PKP2 (N761K +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1014795	NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser)	PKP2 (N761S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2774078	NM_001005242.3(PKP2):c.2280A>G (p.Gln760=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 967546	NM_001005242.3(PKP2):c.2277C>G (p.Ile759Met)	PKP2 (I759M +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 78973	NM_001005242.3(PKP2):c.2265G>A (p.Leu755=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 2774079	NM_001005242.3(PKP2):c.2263T>C (p.Leu755=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
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 518740	NM_001005242.3(PKP2):c.2248T>G (p.Ser750Ala)	PKP2 (S794A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 179559	NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp)	PKP2 (A793D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 921366	NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)	PKP2 (I745N +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 575611	NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr)	PKP2 (I789T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 45066	NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg)	PKP2 (L787R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GUncertain significance
Select item 920753	NM_001005242.3(PKP2):c.2224G>A (p.Asp742Asn)	PKP2 (D742N +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 496259	NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GLikely benign
Select item 928246	NM_001005242.3(PKP2):c.2216C>A (p.Pro739Gln)	PKP2 (P739Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 922435	NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val)	PKP2 (I734V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 308506	NM_001005242.3(PKP2):c.2190G>A (p.Leu730=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2573529	NM_001005242.3(PKP2):c.2182C>T (p.Pro728Ser)	PKP2 (P619S +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 1171746	NM_001005242.3(PKP2):c.2178T>C (p.Thr726=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 921974	NM_001005242.3(PKP2):c.2172A>T (p.Lys724Asn)	PKP2 (K768N +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 191764	NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr)	PKP2 (K768T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +3 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 924826	NM_001005242.3(PKP2):c.2168-5T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
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 202005	NM_001005242.3(PKP2):c.2167+1G>A	PKP2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 565339	NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser)	PKP2 (N764S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GUncertain significance
Select item 2774080	NM_001005242.3(PKP2):c.2157G>A (p.Gln719=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 640578	NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs)	PKP2 (L718fs +1 more)	Deletion (frameshift variant)	Cardiomyopathy +1 more	GPathogenic
Select item 45062	NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)	PKP2 (R758Q +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 922560	NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp)	PKP2 (R714W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 188659	NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GLikely benign
Select item 925060	NM_001005242.3(PKP2):c.2097_2099dup (p.Pro699_Ser700insArg)	PKP2	Duplication (inframe_insertion)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 2774081	NM_001005242.3(PKP2):c.2097A>G (p.Pro699=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 164953	NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)	PKP2 (G741V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 919115	NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln)	PKP2 (R691Q +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GConflicting classifications of pathogenicity
Select item 920580	NM_001005242.3(PKP2):c.2071C>G (p.Arg691Gly)	PKP2 (R691G +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance

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