ClinVar Miner

List of variants in gene PKP2 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1034+1G>T rs869025496
NM_004572.3(PKP2):c.1034+1del rs1555148011
NM_004572.3(PKP2):c.1034+4del rs397516983
NM_004572.3(PKP2):c.1035-1G>A rs1555147210
NM_004572.3(PKP2):c.1080C>T (p.Leu360=) rs397516984
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_004572.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985
NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986
NM_004572.3(PKP2):c.1170+2T>A rs397516987
NM_004572.3(PKP2):c.1170+4_1170+7del rs397516988
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1271T>C (p.Phe424Ser) rs397516990
NM_004572.3(PKP2):c.1287C>T (p.Asn429=) rs727505239
NM_004572.3(PKP2):c.12C>T (p.Pro4=) rs397516991
NM_004572.3(PKP2):c.1301dup (p.Ala434_Glu435insTer) rs876657659
NM_004572.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_004572.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.1379-1G>A rs139159464
NM_004572.3(PKP2):c.1385C>G (p.Thr462Arg)
NM_004572.3(PKP2):c.1415C>T (p.Pro472Leu) rs758950276
NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) rs138538072
NM_004572.3(PKP2):c.1433C>T (p.Ala478Val) rs144620127
NM_004572.3(PKP2):c.1438A>G (p.Asn480Asp) rs727505257
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.1482A>G (p.Ser494=) rs397516995
NM_004572.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_004572.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_004572.3(PKP2):c.1510+5G>A rs779392697
NM_004572.3(PKP2):c.1550A>G (p.Asn517Ser) rs144536197
NM_004572.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_004572.3(PKP2):c.1574T>G (p.Leu525Arg) rs397516998
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1580T>C (p.Leu527Pro) rs397517000
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1614G>A (p.Trp538Ter) rs397517001
NM_004572.3(PKP2):c.1636G>A (p.Ala546Thr) rs368740836
NM_004572.3(PKP2):c.1641T>C (p.Asn547=) rs143782040
NM_004572.3(PKP2):c.1643del (p.Gly548fs) rs794729137
NM_004572.3(PKP2):c.1660A>G (p.Ile554Val) rs397517002
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.1688+1G>A rs397517003
NM_004572.3(PKP2):c.1688+9A>G rs397517004
NM_004572.3(PKP2):c.1689-13dup rs200009796
NM_004572.3(PKP2):c.1709del (p.Ala570fs) rs397517005
NM_004572.3(PKP2):c.1740C>T (p.Asp580=) rs397517006
NM_004572.3(PKP2):c.1742G>A (p.Gly581Glu) rs866789949
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1756C>T (p.Leu586=) rs397517007
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.1759del (p.Val587fs) rs397517008
NM_004572.3(PKP2):c.1760del (p.Val587fs) rs397517009
NM_004572.3(PKP2):c.1780A>G (p.Ile594Val) rs727503371
NM_004572.3(PKP2):c.1806+15A>C rs749247141
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004572.3(PKP2):c.1840del (p.Leu614fs) rs1555142994
NM_004572.3(PKP2):c.1889T>C (p.Ile630Thr) rs397517011
NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter) rs397517012
NM_004572.3(PKP2):c.1926C>A (p.Asn642Lys) rs727503370
NM_004572.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961
NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) rs397517013
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_004572.3(PKP2):c.1995G>A (p.Pro665=) rs146144731
NM_004572.3(PKP2):c.1999G>T (p.Glu667Ter) rs397517015
NM_004572.3(PKP2):c.2020G>A (p.Val674Met) rs143038626
NM_004572.3(PKP2):c.2062T>C (p.Ser688Pro) rs144601090
NM_004572.3(PKP2):c.2083C>T (p.Arg695Cys) rs199583774
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.2097A>G (p.Gln699=) rs727505293
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2119C>T (p.Gln707Ter) rs397517017
NM_004572.3(PKP2):c.2125C>T (p.Leu709Phe) rs397517018
NM_004572.3(PKP2):c.2129C>T (p.Thr710Met) rs397517016
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.214G>T (p.Val72Leu) rs397517019
NM_004572.3(PKP2):c.2150C>T (p.Pro717Leu) rs144018320
NM_004572.3(PKP2):c.2169A>G (p.Thr723=) rs377504106
NM_004572.3(PKP2):c.2197_2202delinsG (p.His733fs) rs397517021
NM_004572.3(PKP2):c.2203C>T (p.Arg735Ter) rs121434421
NM_004572.3(PKP2):c.2222G>T (p.Gly741Val) rs143503798
NM_004572.3(PKP2):c.222C>A (p.Asn74Lys) rs753180642
NM_004572.3(PKP2):c.2273G>A (p.Arg758Gln) rs397517020
NM_004572.3(PKP2):c.2299+7C>T rs74072938
NM_004572.3(PKP2):c.2334_2338delinsCAGT (p.Pro779fs) rs397517022
NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.2360T>G (p.Leu787Arg) rs145553222
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2378C>A (p.Ala793Asp) rs727504950
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.2400C>T (p.Asn800=) rs876657564
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2434G>A (p.Asp812Asn) rs200947767
NM_004572.3(PKP2):c.2484C>T (p.Gly828=) rs727504509
NM_004572.3(PKP2):c.2485G>A (p.Asp829Asn) rs151264959
NM_004572.3(PKP2):c.2487T>C (p.Asp829=) rs142362933
NM_004572.3(PKP2):c.2489+13_2489+14insC rs149968852
NM_004572.3(PKP2):c.2489+1G>A rs111517471
NM_004572.3(PKP2):c.2489+1G>T rs111517471
NM_004572.3(PKP2):c.2509del (p.Ser837fs) rs727504432
NM_004572.3(PKP2):c.2551del (p.Thr851fs) rs727504786
NM_004572.3(PKP2):c.2552C>T (p.Thr851Met) rs146118033
NM_004572.3(PKP2):c.2554G>A (p.Glu852Lys) rs727505312
NM_004572.3(PKP2):c.2560C>T (p.His854Tyr) rs397517023
NM_004572.3(PKP2):c.2577+1G>A rs1060499891
NM_004572.3(PKP2):c.2578-11dup rs397517024
NM_004572.3(PKP2):c.2631C>A (p.His877Gln) rs202094467
NM_004572.3(PKP2):c.269_272del (p.Leu90fs) rs397517025
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949
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.462C>G (p.Ser154Arg) rs397517026
NM_004572.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_004572.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.516C>A (p.Ser172Arg) rs397517028
NM_004572.3(PKP2):c.533dup (p.His179fs) rs769220833
NM_004572.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905
NM_004572.3(PKP2):c.558C>T (p.Ala186=) rs184522105
NM_004572.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747
NM_004572.3(PKP2):c.611G>A (p.Arg204His) rs755215178
NM_004572.3(PKP2):c.654_655delCA
NM_004572.3(PKP2):c.696C>T (p.Asp232=) rs375677250
NM_004572.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_004572.3(PKP2):c.714G>A (p.Pro238=) rs727503372
NM_004572.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.795G>T (p.Gly265=) rs375268778
NM_004572.3(PKP2):c.811G>A (p.Val271Ile) rs876657953
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004572.3(PKP2):c.888C>T (p.His296=) rs397517029
NM_004572.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004572.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_004572.3(PKP2):c.951_983delinsAC (p.His318fs) rs397517030
NM_004572.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_004572.3(PKP2):c.968_975dup (p.Ala326fs) rs1555148032
NM_004572.3(PKP2):c.972G>A (p.Ala324=) rs142636176
NM_004572.3(PKP2):c.978A>G (p.Ala326=) rs775137004

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