ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance for not specified

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Gene type:
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Total variants: 73
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HGVS dbSNP
NM_001005242.2(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985
NM_001005242.3(PKP2):c.1379-1966del
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697
NM_001005242.3(PKP2):c.1379-1985A>G
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442
NM_001005242.3(PKP2):c.1379-2049A>G rs727505257
NM_001005242.3(PKP2):c.1379-2054C>T rs144620127
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999
NM_001005242.3(PKP2):c.1448T>C (p.Leu483Pro) rs397517000
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu) rs866789949
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1648A>G (p.Ile550Val) rs727503371
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr) rs397517011
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys) rs727503370
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe) rs397517018
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val) rs143503798
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln) rs397517020
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu) rs397517019
NM_001005242.3(PKP2):c.2168-8T>C
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg) rs145553222
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165
NM_001005242.3(PKP2):c.224-3C>G rs786204387
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp) rs727504950
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys) rs727505312
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023
NM_001005242.3(PKP2):c.2445+1G>A rs1060499891
NM_001005242.3(PKP2):c.2446-11dup rs397517024
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.337-9C>A
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg) rs397517026
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.516C>A (p.Ser172Arg) rs397517028
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile) rs876657953
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004572.3(PKP2):c.1034+4del rs397516983
NM_004572.3(PKP2):c.1114G>A (p.Ala372Thr) rs200586695
NM_004572.3(PKP2):c.1170+4_1170+7del rs397516988
NM_004572.3(PKP2):c.1385C>G (p.Thr462Arg) rs762631031
NM_004572.3(PKP2):c.1828A>G (p.Ile610Val) rs794729110
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.194C>T (p.Ala65Val) rs139924723
NM_004572.3(PKP2):c.2020G>A (p.Val674Met) rs143038626
NM_004572.3(PKP2):c.222C>A (p.Asn74Lys) rs753180642
NM_004572.3(PKP2):c.2489C>A (p.Ala830Asp) rs1057518582
NM_004572.3(PKP2):c.2578-8T>G rs794729101
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_004572.3(PKP2):c.926_928dup (p.Ala309dup) rs869025497
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860

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