PKP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 464402	NC_000012.11:g.(?_32729272)_(33049685_?)dup	DNM1L, FGD4 +7 more	Duplication	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 146276	GRCh38/hg38 12p11.21-11.1(chr12:32672401-33313056)x3	DNM1L, LOC126861496 +10 more	Copy number gain	See cases	GUncertain significance
Select item 59805	GRCh38/hg38 12p11.21(chr12:32731855-32881857)x3	DNM1L, LOC126861497 +4 more	Copy number gain	See cases	GPathogenic
Select item 308467	NM_001005242.3(PKP2):c.*1602A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308468	NM_001005242.3(PKP2):c.*1563G>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign
Select item 884062	NM_001005242.3(PKP2):c.*1527G>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308469	NM_001005242.3(PKP2):c.*1431G>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign
Select item 884063	NM_001005242.3(PKP2):c.*1394A>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 308470	NM_001005242.3(PKP2):c.*1311del	PKP2	Deletion (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 308471	NM_001005242.3(PKP2):c.*1271G>C	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign
Select item 308472	NM_001005242.3(PKP2):c.*1246C>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308473	NM_001005242.3(PKP2):c.*1220A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308474	NM_001005242.3(PKP2):c.*1199del	PKP2	Deletion (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 308475	NM_001005242.3(PKP2):c.*1196G>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign
Select item 308476	NM_001005242.3(PKP2):c.*1159A>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308477	NM_001005242.3(PKP2):c.*1048G>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308478	NM_001005242.3(PKP2):c.*1023C>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308479	NM_001005242.3(PKP2):c.*962C>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308480	NM_001005242.3(PKP2):c.*953C>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308481	NM_001005242.3(PKP2):c.*944C>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign
Select item 308482	NM_001005242.3(PKP2):c.*932C>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308483	NM_001005242.3(PKP2):c.*910C>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308484	NM_001005242.3(PKP2):c.*839C>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308485	NM_001005242.3(PKP2):c.*812C>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign
Select item 308486	NM_001005242.3(PKP2):c.*753C>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308487	NM_001005242.3(PKP2):c.*683T>C	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 308488	NM_001005242.3(PKP2):c.*646G>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 308489	NM_001005242.3(PKP2):c.*607A>C	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308490	NM_001005242.3(PKP2):c.578_583dup	PKP2	Duplication (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 308491	NM_001005242.3(PKP2):c.*579C>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 880768	NM_001005242.3(PKP2):c.*429A>T	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308492	NM_001005242.3(PKP2):c.*400A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308493	NM_001005242.3(PKP2):c.*330A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308494	NM_001005242.3(PKP2):c.*320C>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 882161	NM_001005242.3(PKP2):c.*303A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 308495	NM_001005242.3(PKP2):c.*281A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 308496	NM_001005242.3(PKP2):c.*252A>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308497	NM_001005242.3(PKP2):c.*251C>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GBenign
Select item 308498	NM_001005242.3(PKP2):c.*227T>C	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308499	NM_001005242.3(PKP2):c.*215G>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
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 308500	NM_001005242.3(PKP2):c.*180C>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308501	NM_001005242.3(PKP2):c.*110T>G	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
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 308503	NM_001005242.3(PKP2):c.*41G>A	PKP2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308504	NM_001005242.3(PKP2):c.*22G>A	PKP2	Single nucleotide variant (3 prime UTR variant)	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 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 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 2662957	NM_001005242.3(PKP2):c.2508del (p.Asp837fs)	PKP2 (D728fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 566033	NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro)	PKP2 (L879P +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 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	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	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	GUncertain significance
Select item 191761	NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)	PKP2 (H877Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Cardiomyopathy	GUncertain significance
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 +3 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 519408	NM_001005242.3(PKP2):c.2485G>T (p.Ala829Ser)	PKP2 (A873S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 138691	NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)	PKP2 (T872I +1 more)	Single nucleotide variant (missense variant)	not specified +2 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 +1 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 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 (nonsense +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)	Cardiomyopathy +1 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)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GConflicting classifications of pathogenicity
Select item 882411	NM_001005242.3(PKP2):c.2455A>G (p.Lys819Glu)	PKP2 (K819E +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
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	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 (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
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 3065037	NM_001005242.3(PKP2):c.2446-1G>A	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 406558	NM_001005242.3(PKP2):c.2446-2A>C	PKP2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +2 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	GUncertain significance
Select item 2774074	NM_001005242.3(PKP2):c.2446-4A>G	PKP2	Single nucleotide variant (intron variant)	Cardiomyopathy +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)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GUncertain significance
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)	not specified +1 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 2148051	NM_001005242.3(PKP2):c.2446-11T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign

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