ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance for arrhythmogenic right ventricular dysplasia 9

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP
NC_000012.12:g.(?_32868907)_(32896751_?)dup
NM_001005242.2(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.2(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005242.2(PKP2):c.953A>C (p.His318Pro) rs181098323
NM_004572.3(PKP2):c.1010G>A (p.Ser337Asn) rs144401285
NM_004572.3(PKP2):c.1034+4delA rs397516983
NM_004572.3(PKP2):c.1048G>A (p.Glu350Lys) rs147264025
NM_004572.3(PKP2):c.1064G>A (p.Arg355Gln)
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1114G>A (p.Ala372Thr)
NM_004572.3(PKP2):c.1129A>G (p.Ile377Val)
NM_004572.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985
NM_004572.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365
NM_004572.3(PKP2):c.1170+5G>T rs794729105
NM_004572.3(PKP2):c.1184G>A (p.Arg395His) rs773611613
NM_004572.3(PKP2):c.1190T>A (p.Ile397Asn)
NM_004572.3(PKP2):c.1366A>C (p.Lys456Gln) rs1555145493
NM_004572.3(PKP2):c.1367A>C (p.Lys456Thr) rs750897570
NM_004572.3(PKP2):c.1382A>G (p.His461Arg) rs376606525
NM_004572.3(PKP2):c.1415C>T (p.Pro472Leu) rs758950276
NM_004572.3(PKP2):c.1427C>G (p.Ala476Gly)
NM_004572.3(PKP2):c.1444A>G (p.Ser482Gly) rs1188858368
NM_004572.3(PKP2):c.1454G>A (p.Gly485Glu) rs757689437
NM_004572.3(PKP2):c.1462G>A (p.Gly488Ser) rs537458442
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1469G>A (p.Arg490Gln) rs369518480
NM_004572.3(PKP2):c.1503C>G (p.Asp501Glu)
NM_004572.3(PKP2):c.1510+5G>A rs779392697
NM_004572.3(PKP2):c.1511-5T>C rs189036647
NM_004572.3(PKP2):c.1543C>G (p.Leu515Val) rs878854708
NM_004572.3(PKP2):c.1547A>G (p.Lys516Arg) rs749926313
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.155A>G (p.Lys52Arg) rs549598534
NM_004572.3(PKP2):c.156G>C (p.Lys52Asn) rs201210997
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.158G>A (p.Ser53Asn)
NM_004572.3(PKP2):c.1615C>G (p.Pro539Ala) rs543325231
NM_004572.3(PKP2):c.1652A>G (p.Asp551Gly) rs1555144465
NM_004572.3(PKP2):c.1669A>G (p.Asn557Asp) rs200343561
NM_004572.3(PKP2):c.1708G>A (p.Ala570Thr) rs558637427
NM_004572.3(PKP2):c.1718G>A (p.Arg573Lys) rs1555143136
NM_004572.3(PKP2):c.1742G>A (p.Gly581Glu) rs866789949
NM_004572.3(PKP2):c.1811C>T (p.Thr604Met) rs373360192
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.1876T>A (p.Tyr626Asn) rs794729112
NM_004572.3(PKP2):c.1889T>C (p.Ile630Thr) rs397517011
NM_004572.3(PKP2):c.1892A>G (p.Tyr631Cys) rs1060501183
NM_004572.3(PKP2):c.1903C>T (p.Arg635Trp) rs778928536
NM_004572.3(PKP2):c.1926_1928delCAA (p.Asn642del)
NM_004572.3(PKP2):c.1928A>G (p.Lys643Arg) rs533659697
NM_004572.3(PKP2):c.1941T>G (p.Cys647Trp)
NM_004572.3(PKP2):c.194C>T (p.Ala65Val)
NM_004572.3(PKP2):c.1972-10G>A
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.199A>G (p.Lys67Glu) rs1555149950
NM_004572.3(PKP2):c.2020G>A (p.Val674Met) rs143038626
NM_004572.3(PKP2):c.206G>T (p.Arg69Leu)
NM_004572.3(PKP2):c.2083C>T (p.Arg695Cys) rs199583774
NM_004572.3(PKP2):c.2100A>T (p.Glu700Asp) rs879210282
NM_004572.3(PKP2):c.2117T>C (p.Leu706Pro) rs878854709
NM_004572.3(PKP2):c.2125C>T (p.Leu709Phe) rs397517018
NM_004572.3(PKP2):c.2135G>A (p.Gly712Glu) rs1348373466
NM_004572.3(PKP2):c.2200A>G (p.Thr734Ala) rs867374780
NM_004572.3(PKP2):c.223+6T>G rs755600420
NM_004572.3(PKP2):c.224-3C>G rs786204387
NM_004572.3(PKP2):c.2273G>A (p.Arg758Gln) rs397517020
NM_004572.3(PKP2):c.2291A>G (p.Asn764Ser)
NM_004572.3(PKP2):c.2303A>C (p.Lys768Thr) rs201487421
NM_004572.3(PKP2):c.2326T>C (p.Ser776Pro) rs1114167346
NM_004572.3(PKP2):c.2345T>C (p.Val782Ala) rs1555141066
NM_004572.3(PKP2):c.2366T>C (p.Ile789Thr)
NM_004572.3(PKP2):c.236G>A (p.Arg79Gln) rs766802880
NM_004572.3(PKP2):c.2431C>T (p.Arg811Cys) rs139734328
NM_004572.3(PKP2):c.2453G>A (p.Gly818Asp) rs1192534020
NM_004572.3(PKP2):c.2464A>G (p.Ile822Val) rs145324631
NM_004572.3(PKP2):c.2490-3C>G
NM_004572.3(PKP2):c.2502C>G (p.Asn834Lys) rs775519219
NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) rs368633311
NM_004572.3(PKP2):c.2534A>T (p.Tyr845Phe) rs1060501187
NM_004572.3(PKP2):c.2537C>A (p.Ser846Tyr) rs768808114
NM_004572.3(PKP2):c.2543G>C (p.Trp848Ser) rs117425357
NM_004572.3(PKP2):c.2552C>T (p.Thr851Met) rs146118033
NM_004572.3(PKP2):c.2560C>T (p.His854Tyr) rs397517023
NM_004572.3(PKP2):c.2569_2577+41del rs1064792928
NM_004572.3(PKP2):c.2570A>T (p.Tyr857Phe) rs751287217
NM_004572.3(PKP2):c.2578-10dupT rs397517024
NM_004572.3(PKP2):c.2578-8T>G rs794729101
NM_004572.3(PKP2):c.259G>C (p.Val87Leu) rs750028032
NM_004572.3(PKP2):c.2603T>A (p.Val868Asp)
NM_004572.3(PKP2):c.2612G>A (p.Arg871Gln) rs372263407
NM_004572.3(PKP2):c.2633C>T (p.Ser878Phe) rs1216433436
NM_004572.3(PKP2):c.2636T>C (p.Leu879Pro)
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911
NM_004572.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.45C>A (p.Thr15=) rs759214983
NM_004572.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_004572.3(PKP2):c.467C>T (p.Pro156Leu) rs766360871
NM_004572.3(PKP2):c.554G>A (p.Arg185Gln)
NM_004572.3(PKP2):c.587G>A (p.Arg196His)
NM_004572.3(PKP2):c.598G>A (p.Val200Met)
NM_004572.3(PKP2):c.611G>A (p.Arg204His) rs755215178
NM_004572.3(PKP2):c.688G>A (p.Val230Ile)
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280
NM_004572.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_004572.3(PKP2):c.739G>C (p.Gly247Arg)
NM_004572.3(PKP2):c.73C>G (p.Leu25Val) rs1555149974
NM_004572.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949
NM_004572.3(PKP2):c.749G>T (p.Arg250Leu)
NM_004572.3(PKP2):c.784C>A (p.Leu262Met) rs199701968
NM_004572.3(PKP2):c.788C>T (p.Thr263Met) rs543758984
NM_004572.3(PKP2):c.818C>T (p.Pro273Leu)
NM_004572.3(PKP2):c.854C>T (p.Ala285Val) rs372664096
NM_004572.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195
NM_004572.3(PKP2):c.928G>A (p.Val310Met) rs768396351
NM_004572.3(PKP2):c.941G>A (p.Gly314Glu) rs139903989
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.968_971invAGGC (p.Gln323_Ala324delinsArgLeu)
NM_004572.3(PKP2):c.974C>T (p.Ala325Val)
NM_004572.3(PKP2):c.985A>C (p.Ser329Arg) rs779173447

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