List of variants in gene PKP2 reported as likely pathogenic for arrhythmogenic right ventricular cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 118

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	rs144601090	0.00011
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	rs372827156	0.00005
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)	rs727504509	0.00004
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_001005242.3(PKP2):c.1034+1G>A	rs869025496	0.00001
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter)	rs754912778	0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	rs766209297	0.00001
NM_001005242.3(PKP2):c.1171-2A>G	rs794729133	0.00001
NM_001005242.3(PKP2):c.1379-1998C>T	rs151212477	0.00001
NM_001005242.3(PKP2):c.1379-2A>T	rs1453983744	0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)	rs755076586	0.00001
NM_001005242.3(PKP2):c.2446-2A>C	rs1060501188	0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs)	rs769220833	0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)	rs772220644	0.00001
NC_000012.11:g.(?_32945558)_(32949252_?)dup
NC_000012.11:g.(?_32949023)_(32949252_?)del
NC_000012.11:g.(?_32949033)_(32949242_?)del
NC_000012.11:g.(?_32954329)_(32955343_?)del
NC_000012.11:g.(?_32974270)_(32977116_?)dup
NC_000012.11:g.(?_32975391)_(32977106_?)dup
NC_000012.11:g.(?_32978346)_(32996155_?)del
NC_000012.11:g.(?_32978391)_(32996200_?)del
NC_000012.11:g.(?_32993942)_(33003927_?)dup
NC_000012.11:g.(?_33021841)_(33031986_?)dup
NC_000012.11:g.(?_33031462)_(33032597_?)del
NC_000012.12:g.(?_32792634)_(32796308_?)dup
NC_000012.12:g.(?_32850756)_(32850983_?)dup
NM_001005242.3(PKP2):c.102dup (p.Glu35fs)
NM_001005242.3(PKP2):c.1034+1G>C	rs869025496
NM_001005242.3(PKP2):c.1034+1G>T	rs869025496
NM_001005242.3(PKP2):c.1034+1del	rs1555148011
NM_001005242.3(PKP2):c.1035-1G>A	rs1555147210
NM_001005242.3(PKP2):c.1058_1059del (p.Leu353fs)
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro)	rs730880180
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)	rs878898365
NM_001005242.3(PKP2):c.1170+2T>A	rs397516987
NM_001005242.3(PKP2):c.1170+2T>C	rs397516987
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)	rs786204393
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter)	rs1555145520
NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser)	rs397516990
NM_001005242.3(PKP2):c.12del (p.Gly5fs)
NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer)	rs876657659
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs)	rs397516992
NM_001005242.3(PKP2):c.1368del (p.Lys456fs)	rs1393661338
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)	rs397516993
NM_001005242.3(PKP2):c.1378+1G>C	rs397516994
NM_001005242.3(PKP2):c.1378+2T>A	rs762103704
NM_001005242.3(PKP2):c.1378G>A (p.Gly460Ser)
NM_001005242.3(PKP2):c.1379-1976G>A	rs1332615728
NM_001005242.3(PKP2):c.1379-2045_1379-1738del	rs2137836547
NM_001005242.3(PKP2):c.1379-2047_1379-2043del	rs775995156
NM_001005242.3(PKP2):c.1382del (p.Leu461fs)
NM_001005242.3(PKP2):c.1391_1406del (p.Asn464fs)	rs2137830958
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter)	rs397517001
NM_001005242.3(PKP2):c.14del (p.Gly5fs)	rs397516996
NM_001005242.3(PKP2):c.1556+1G>A	rs397517003
NM_001005242.3(PKP2):c.155dup (p.Ser53fs)	rs958681660
NM_001005242.3(PKP2):c.1577del (p.Ala526fs)	rs397517005
NM_001005242.3(PKP2):c.1584del (p.Arg529fs)	rs1592738654
NM_001005242.3(PKP2):c.1627del (p.Val543fs)	rs397517008
NM_001005242.3(PKP2):c.1628del (p.Val543fs)	rs397517009
NM_001005242.3(PKP2):c.1657del (p.Tyr553fs)
NM_001005242.3(PKP2):c.1675-2A>G	rs2137778300
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)	rs397517010
NM_001005242.3(PKP2):c.1708del (p.Leu570fs)	rs1555142994
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
NM_001005242.3(PKP2):c.1719G>C (p.Gln573His)	rs786205476
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter)	rs1555142971
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs)	rs397517013
NM_001005242.3(PKP2):c.1839+2T>A
NM_001005242.3(PKP2):c.1840-1G>C	rs2137774389
NM_001005242.3(PKP2):c.1883_1887delinsG (p.Lys628fs)
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)	rs193922673
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)	rs1444213066
NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter)	rs397517017
NM_001005242.3(PKP2):c.1A>G (p.Met1Val)	rs794729107
NM_001005242.3(PKP2):c.1A>T (p.Met1Leu)
NM_001005242.3(PKP2):c.20del (p.Pro7fs)
NM_001005242.3(PKP2):c.2108del (p.Lys703fs)	rs1565574709
NM_001005242.3(PKP2):c.2156del (p.Gln719fs)
NM_001005242.3(PKP2):c.2161_2167+1008del
NM_001005242.3(PKP2):c.2167+1G>A	rs794729116
NM_001005242.3(PKP2):c.2168-1G>A	rs1060501184
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)	rs1064794350
NM_001005242.3(PKP2):c.2196del (p.Ile733fs)
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs)	rs397517022
NM_001005242.3(PKP2):c.224-1G>A
NM_001005242.3(PKP2):c.2346del (p.Ser782fs)
NM_001005242.3(PKP2):c.2357+1G>T	rs111517471
NM_001005242.3(PKP2):c.2358-1_2358delinsTT	rs1956082403
NM_001005242.3(PKP2):c.2358-2A>G	rs1956082474
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	rs727504432
NM_001005242.3(PKP2):c.2392del (p.Val798fs)
NM_001005242.3(PKP2):c.2419del (p.Thr807fs)	rs727504786
NM_001005242.3(PKP2):c.2422del (p.Glu808fs)	rs1353074803
NM_001005242.3(PKP2):c.2437_2445+41del	rs1064792928
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs)	rs397517025
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr)	rs1957129506
NM_001005242.3(PKP2):c.335dup (p.Ala113fs)
NM_001005242.3(PKP2):c.336+1G>A
NM_001005242.3(PKP2):c.337-2A>T	rs786204389
NM_001005242.3(PKP2):c.385C>T (p.Gln129Ter)
NM_001005242.3(PKP2):c.433_434del (p.Leu145fs)
NM_001005242.3(PKP2):c.497_498del (p.Tyr166fs)
NM_001005242.3(PKP2):c.654_655del (p.His218fs)	rs1591828796
NM_001005242.3(PKP2):c.738_742dup (p.Thr248fs)
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter)	rs727504430
NM_001005242.3(PKP2):c.923_1034+262del
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs)	rs2137946568
NM_001005242.3(PKP2):c.951del (p.His318fs)	rs1555148048
NM_001005242.3(PKP2):c.962_965del (p.Val321fs)	rs2137946218
NM_001005242.3(PKP2):c.962del (p.Val321fs)
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)	rs1555148035
NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs)	rs1555148032
NM_001005242.3(PKP2):c.971_972insCGCCT (p.Ala326fs)
NM_001005242.3(PKP2):c.983dup (p.Ser329fs)	rs786205353
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)	rs1555144459

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