ClinVar Miner

List of variants in gene PKP2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 12p11.21(chr12:32813258-32845018)x1
NM_004572.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985
NM_004572.3(PKP2):c.1170+5G>A rs794729105
NM_004572.3(PKP2):c.1181T>A (p.Leu394His) rs766842360
NM_004572.3(PKP2):c.1246T>C (p.Cys416Arg) rs1555145510
NM_004572.3(PKP2):c.1367A>G (p.Lys456Arg) rs750897570
NM_004572.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1669A>G (p.Asn557Asp) rs200343561
NM_004572.3(PKP2):c.1672G>A (p.Val558Ile) rs376102257
NM_004572.3(PKP2):c.1744C>T (p.Leu582Phe) rs794729134
NM_004572.3(PKP2):c.1776A>T (p.Gly592=) rs1555143127
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) rs370219248
NM_004572.3(PKP2):c.1876T>A (p.Tyr626Asn) rs794729112
NM_004572.3(PKP2):c.19C>T (p.Pro7Ser) rs764645176
NM_004572.3(PKP2):c.202G>A (p.Gly68Ser) rs794729114
NM_004572.3(PKP2):c.2060T>G (p.Leu687Arg) rs794729113
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.2084G>A (p.Arg695His) rs758813231
NM_004572.3(PKP2):c.2121G>T (p.Gln707His) rs765884775
NM_004572.3(PKP2):c.2125C>T (p.Leu709Phe) rs397517018
NM_004572.3(PKP2):c.2213T>G (p.Leu738Arg) rs794729115
NM_004572.3(PKP2):c.2222G>T (p.Gly741Val) rs143503798
NM_004572.3(PKP2):c.2273G>A (p.Arg758Gln) rs397517020
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2464A>G (p.Ile822Val) rs145324631
NM_004572.3(PKP2):c.2489C>A (p.Ala830Asp) rs1057518582
NM_004572.3(PKP2):c.250C>T (p.Pro84Ser) rs756468173
NM_004572.3(PKP2):c.2537C>A (p.Ser846Tyr) rs768808114
NM_004572.3(PKP2):c.2540T>C (p.Leu847Pro) rs1064794215
NM_004572.3(PKP2):c.2578-8T>G rs794729101
NM_004572.3(PKP2):c.277G>T (p.Val93Phe) rs1201468352
NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.457G>A (p.Asp153Asn) rs747856983
NM_004572.3(PKP2):c.466C>G (p.Pro156Ala) rs794729102
NM_004572.3(PKP2):c.634C>T (p.Arg212Cys) rs766379716
NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389
NM_004572.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_004572.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949
NM_004572.3(PKP2):c.761A>C (p.Asn254Thr) rs769542968
NM_004572.3(PKP2):c.928G>A (p.Val310Met) rs768396351
NM_004572.3(PKP2):c.964G>A (p.Gly322Ser) rs200069860
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004572.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_004572.3(PKP2):c.980G>A (p.Gly327Glu) rs759660796

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.