"GeneDx"[submitter] AND "PKP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59805	GRCh38/hg38 12p11.21(chr12:32731855-32881857)x3	DNM1L, LOC126861497 +4 more	Copy number gain	See cases	GPathogenic
Select item 308497	NM_001005242.3(PKP2):c.*251C>G	PKP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1205141	NM_001005242.3(PKP2):c.*202C>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 1226074	NM_001005242.3(PKP2):c.49_50insA	PKP2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 308502	NM_001005242.3(PKP2):c.*48dup	PKP2	Duplication (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 2662957	NM_001005242.3(PKP2):c.2508del (p.Asp837fs)	PKP2 (D728fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 191761	NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)	PKP2 (H877Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
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 201969	NM_001005242.3(PKP2):c.2446-8T>G	PKP2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
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 674366	NM_001005242.3(PKP2):c.2446-60C>A	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672160	NM_001005242.3(PKP2):c.2446-69G>A	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 403314	NM_001005242.3(PKP2):c.2445+1G>A	PKP2	Single nucleotide variant (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 3338738	NM_001005242.3(PKP2):c.2411G>A (p.Trp804Ter)	PKP2 (G632R +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 464427	NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)	PKP2 (W848S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 419976	NM_001005242.3(PKP2):c.2408T>C (p.Leu803Pro)	PKP2 (L847P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201968	NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr)	PKP2 (S846Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 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 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 201966	NM_001005242.3(PKP2):c.2390C>T (p.Ser797Phe)	PKP2 (S841F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 177995	NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	PKP2 (S793fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 919036	NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)	PKP2 (K791R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GUncertain significance
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 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 392840	NM_001005242.3(PKP2):c.2358-18A>G	PKP2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 672159	NM_001005242.3(PKP2):c.2358-56C>A	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672158	NM_001005242.3(PKP2):c.2358-104C>G	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672157	NM_001005242.3(PKP2):c.2358-170C>T	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674371	NM_001005242.3(PKP2):c.2357+73del	PKP2	Deletion (intron variant)	not provided	GBenign
Select item 674370	NM_001005242.3(PKP2):c.2357+72G>A	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1257654	NM_001005242.3(PKP2):c.2357+13del	PKP2	Deletion (intron variant)	not provided	GBenign
Select item 522206	NM_001005242.3(PKP2):c.2357+12_2357+13insC	PKP2	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
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 419485	NM_001005242.3(PKP2):c.2357+4A>C	PKP2	Single nucleotide variant (intron variant)	not provided	GPathogenic
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
Select item 6757	NM_001005242.3(PKP2):c.2357+1G>A	PKP2	Single nucleotide variant (splice donor variant +1 more)	Cardiovascular phenotype +7 more	GPathogenic
Select item 373739	NM_001005242.3(PKP2):c.2357C>A (p.Ala786Asp)	PKP2 (A830D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 923173	NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro)	PKP2 (A830P +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GBenign/Likely benign
Select item 178879	NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)	PKP2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GConflicting classifications of pathogenicity
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 643226	NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser)	PKP2 (G774S +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 382244	NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 45068	NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	PKP2 (R811S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 3338804	NM_001005242.3(PKP2):c.2289C>A (p.Tyr763Ter)	PKP2 (Y654* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 970859	NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del)	PKP2	Deletion (inframe_deletion)	not provided +2 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)	Cardiomyopathy +4 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)	not provided +4 more	GPathogenic
Select item 202008	NM_001005242.3(PKP2):c.2253del (p.Cys752fs)	PKP2 (C796fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1691753	NM_001005242.3(PKP2):c.2247del (p.Ser750fs)	PKP2 (S750fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 921366	NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)	PKP2 (I745N +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +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)	Arrhythmogenic right ventricular dysplasia 9 +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)	Arrhythmogenic right ventricular dysplasia 9 +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)	Cardiomyopathy +4 more	GUncertain significance
Select item 3338805	NM_001005242.3(PKP2):c.2227C>T (p.Leu743Phe)	PKP2 (L634F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 496259	NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GLikely benign
Select item 922435	NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val)	PKP2 (I734V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GConflicting classifications of pathogenicity
Select item 420209	NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)	PKP2 (L771fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 1424538	NM_001005242.3(PKP2):c.2176A>T (p.Thr726Ser)	PKP2 (T726S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 202007	NM_001005242.3(PKP2):c.2169del (p.Glu725fs)	PKP2 (E725fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 406550	NM_001005242.3(PKP2):c.2168-1G>A	PKP2	Single nucleotide variant (splice acceptor variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely pathogenic
Select item 496258	NM_001005242.3(PKP2):c.2168-4G>C	PKP2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 201958	NM_001005242.3(PKP2):c.2168-6T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GBenign
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 1271067	NM_001005242.3(PKP2):c.2168-21G>T	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 188660	NM_001005242.3(PKP2):c.2168-21del	PKP2	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1205547	NM_001005242.3(PKP2):c.2168-49A>G	PKP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672403	NM_001005242.3(PKP2):c.2168-195A>G	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674192	NM_001005242.3(PKP2):c.2168-233G>A	PKP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209445	NM_001005242.3(PKP2):c.2168-241G>A	PKP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248769	NM_001005242.3(PKP2):c.2168-266A>T	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201854	NM_001005242.3(PKP2):c.2167+267A>G	PKP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273263	NM_001005242.3(PKP2):c.2167+213_2167+214dup	PKP2	Duplication (intron variant)	not provided	GBenign
Select item 1227350	NM_001005242.3(PKP2):c.2167+213dup	PKP2	Duplication (intron variant)	not provided	GBenign
Select item 672402	NM_001005242.3(PKP2):c.2167+183C>G	PKP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675867	NM_001005242.3(PKP2):c.2167+67C>T	PKP2	Single nucleotide variant (intron variant)	not provided	GLikely 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 202005	NM_001005242.3(PKP2):c.2167+1G>A	PKP2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 9 +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)	Cardiomyopathy +3 more	GUncertain significance
Select item 202023	NM_001005242.3(PKP2):c.2142del (p.Asn715fs)	PKP2 (N715fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GPathogenic/Likely pathogenic
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 +4 more	GUncertain significance
Select item 188659	NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	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 202004	NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg)	PKP2 (L738R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +2 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 6755	NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)	PKP2 (R735* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 689321	NM_001005242.3(PKP2):c.2066_2070del (p.His689fs)	PKP2 (H689fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GPathogenic
Select item 138695	NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 45063	NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	PKP2 (H689fs +1 more)	Indel (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GPathogenic
Select item 227847	NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 669347	NM_001005242.3(PKP2):c.2028G>A (p.Val676=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign

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