ClinVar Miner

List of variants in gene PKP2 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 63
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HGVS dbSNP
NM_004572.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778
NM_004572.3(PKP2):c.1112_1114delinsTT (p.Ser371fs) rs1064796241
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.1147C>T (p.Gln383Ter) rs1057520650
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1170+2T>A rs397516987
NM_004572.3(PKP2):c.1171-2A>G rs794729133
NM_004572.3(PKP2):c.1202_1209del (p.Leu401fs) rs1555145521
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1248T>A (p.Cys416Ter) rs794729104
NM_004572.3(PKP2):c.1378G>C (p.Asp460His) rs794729106
NM_004572.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_004572.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_004572.3(PKP2):c.1511-1G>A rs779082302
NM_004572.3(PKP2):c.1531_1540del (p.Ser511fs) rs794729125
NM_004572.3(PKP2):c.1579del (p.Thr526_Leu527insTer) rs794729126
NM_004572.3(PKP2):c.1606del (p.Ser536fs) rs1555144478
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.1687A>T (p.Arg563Ter) rs1057520597
NM_004572.3(PKP2):c.1688+1G>A rs397517003
NM_004572.3(PKP2):c.1689-1G>C rs78897684
NM_004572.3(PKP2):c.1689-2A>G rs1555143143
NM_004572.3(PKP2):c.1760del (p.Val587fs) rs397517009
NM_004572.3(PKP2):c.1767T>G (p.Tyr589Ter) rs794729108
NM_004572.3(PKP2):c.1799del (p.Asp600fs) rs794729128
NM_004572.3(PKP2):c.1803del (p.Asp601fs) rs794729129
NM_004572.3(PKP2):c.1804A>T (p.Lys602Ter) rs794729109
NM_004572.3(PKP2):c.1901del (p.Asn634fs) rs1064793231
NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter) rs397517012
NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) rs751288871
NM_004572.3(PKP2):c.2013del (p.Lys672fs) rs764817683
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) rs193922673
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2197_2202delinsG (p.His733fs) rs397517021
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2301del (p.Glu769fs) rs794729117
NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420
NM_004572.3(PKP2):c.2385del (p.Cys796fs) rs794729118
NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) rs794729098
NM_004572.3(PKP2):c.240del (p.Ser81fs) rs794729119
NM_004572.3(PKP2):c.2489+1G>A rs111517471
NM_004572.3(PKP2):c.2489+1G>T rs111517471
NM_004572.3(PKP2):c.2489+4A>C rs1064793905
NM_004572.3(PKP2):c.2509del (p.Ser837fs) rs727504432
NM_004572.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_004572.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_004572.3(PKP2):c.257dup (p.Tyr86Ter) rs1555148271
NM_004572.3(PKP2):c.275T>A (p.Leu92Ter) rs763639737
NM_004572.3(PKP2):c.314del (p.Pro105fs) rs794729121
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_004572.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_004572.3(PKP2):c.390C>G (p.Tyr130Ter) rs763303290
NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_004572.3(PKP2):c.533dup (p.His179fs) rs769220833
NM_004572.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_004572.3(PKP2):c.658C>T (p.Gln220Ter) rs886041322
NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619
NM_004572.3(PKP2):c.672_673CT[1] (p.Ser225fs) rs794729123
NM_004572.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430

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