ClinVar Miner

List of variants in gene PKP2 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NC_000012.11:g.(?_32945338)_(32977116_?)del
NC_000012.11:g.(?_32945338)_(33049685_?)del
NC_000012.11:g.(?_32955317)_(32955510_?)del
NC_000012.11:g.(?_32976959)_(32977116_?)del
NC_000012.11:g.(?_33003690)_(33003917_?)del
NC_000012.11:g.(?_33003694)_(33003913_?)del
NC_000012.11:g.(?_33030780)_(33031966_?)del
NC_000012.11:g.(?_33049433)_(33049675_?)del
NM_004572.3(PKP2):c.1125_1132del (p.Phe376fs) rs794729124
NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1170+1G>A rs786204392
NM_004572.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1252del (p.Ala418fs) rs1555145509
NM_004572.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_004572.3(PKP2):c.1542del (p.Lys514fs) rs1565586958
NM_004572.3(PKP2):c.1566dup (p.Ala523fs) rs1565586921
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1643del (p.Gly548fs) rs794729137
NM_004572.3(PKP2):c.1664del (p.Phe555fs) rs794729127
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.1689-1G>C rs78897684
NM_004572.3(PKP2):c.1725_1728dup (p.Arg577fs) rs1555143134
NM_004572.3(PKP2):c.1757del (p.Leu586fs) rs1060501182
NM_004572.3(PKP2):c.1803del (p.Asp601fs) rs794729129
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004572.3(PKP2):c.1844C>T (p.Ser615Phe) rs1060501186
NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter) rs397517012
NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) rs397517013
NM_004572.3(PKP2):c.1978C>T (p.Gln660Ter)
NM_004572.3(PKP2):c.2081_2083delinsATCGCCAAAA (p.Val694fs) rs1064792929
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2146-?_2489+?del
NM_004572.3(PKP2):c.2197_2202delinsG (p.His733fs) rs397517021
NM_004572.3(PKP2):c.2198_2203delinsG (p.His733fs) rs878854710
NM_004572.3(PKP2):c.2203C>T (p.Arg735Ter) rs121434421
NM_004572.3(PKP2):c.224-1639_274del
NM_004572.3(PKP2):c.2280_2281del (p.Leu762fs)
NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) rs794729098
NM_004572.3(PKP2):c.2489+1G>A rs111517471
NM_004572.3(PKP2):c.2509del (p.Ser837fs) rs727504432
NM_004572.3(PKP2):c.2554del (p.Glu852fs) rs1353074803
NM_004572.3(PKP2):c.275T>A (p.Leu92Ter) rs763639737
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_004572.3(PKP2):c.390C>G (p.Tyr130Ter) rs763303290
NM_004572.3(PKP2):c.499C>T (p.Gln167Ter) rs1565599473
NM_004572.3(PKP2):c.533dup (p.His179fs) rs769220833
NM_004572.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619
NM_004572.3(PKP2):c.68del (p.Gly23fs) rs1555149975
NM_004572.3(PKP2):c.775G>T (p.Glu259Ter) rs1425855043
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004572.3(PKP2):c.929_951dup (p.His318fs) rs1064792927
NM_004572.3(PKP2):c.951del (p.His318fs) rs1555148048

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