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

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: 108

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)	rs199601548	0.00041
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)	rs144651139	0.00026
NM_001005242.3(PKP2):c.928G>A (p.Val310Met)	rs768396351	0.00017
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)	rs143038626	0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)	rs199583774	0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)	rs139215336	0.00016
NM_001005242.3(PKP2):c.336+17T>G	rs185681814	0.00016
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile)	rs376102257	0.00012
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn)	rs143954425	0.00012
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)	rs370219248	0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	rs144601090	0.00011
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)	rs368633311	0.00011
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)	rs200947767	0.00009
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)	rs397516999	0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)	rs145324631	0.00006
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val)	rs201803918	0.00005
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn)	rs144401285	0.00004
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln)	rs370868564	0.00004
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln)	rs200715477	0.00004
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp)	rs200343561	0.00004
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly)	rs775103879	0.00004
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr)	rs779926314	0.00004
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)	rs143503798	0.00004
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)	rs397517020	0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)	rs727504509	0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)	rs373222905	0.00004
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys)	rs766379716	0.00004
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg)	rs763492084	0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)	rs397517002	0.00003
NM_001005242.3(PKP2):c.1948G>A (p.Val650Ile)	rs747525514	0.00003
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp)	rs879210282	0.00003
NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser)	rs764645176	0.00003
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg)	rs794729115	0.00003
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)	rs372729739	0.00003
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His)	rs758813231	0.00002
NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln)	rs547215531	0.00002
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr)	rs543233804	0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)	rs146118033	0.00002
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr)	rs1193697338	0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)	rs727503373	0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)	rs746530389	0.00002
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val)	rs1565596114	0.00001
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr)	rs397516985	0.00001
NM_001005242.3(PKP2):c.1181T>A (p.Leu394His)	rs766842360	0.00001
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)	rs374163198	0.00001
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)	rs763749576	0.00001
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp)	rs774778142	0.00001
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp)	rs898915439	0.00001
NM_001005242.3(PKP2):c.1579G>A (p.Asp527Asn)	rs764193250	0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)	rs755076586	0.00001
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro)	rs878854709	0.00001
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His)	rs765884775	0.00001
NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser)	rs767496004	0.00001
NM_001005242.3(PKP2):c.2176A>T (p.Thr726Ser)	rs1249551566	0.00001
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val)	rs556563706	0.00001
NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro)	rs768463319	0.00001
NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)	rs117425357	0.00001
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)	rs777477467	0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys)	rs781739949	0.00001
NM_001005242.3(PKP2):c.428A>G (p.His143Arg)	rs1448551311	0.00001
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg)	rs397517026	0.00001
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu)	rs766360871	0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)	rs765195368	0.00001
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu)	rs748566573	0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)	rs560220280	0.00001
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)	rs1085307949	0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala)	rs756604557	0.00001
NM_001005242.3(PKP2):c.941G>A (p.Gly314Glu)	rs139903989	0.00001
GRCh38/hg38 12p11.21(chr12:32813258-32845018)x1
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)	rs770443705
NM_001005242.3(PKP2):c.1078C>T (p.Leu360Phe)	rs2137919913
NM_001005242.3(PKP2):c.107C>T (p.Ala36Val)
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro)	rs756000218
NM_001005242.3(PKP2):c.1170+5G>A	rs794729105
NM_001005242.3(PKP2):c.1246T>C (p.Cys416Arg)	rs1555145510
NM_001005242.3(PKP2):c.1367A>G (p.Lys456Arg)	rs750897570
NM_001005242.3(PKP2):c.1377A>G (p.Thr459=)	rs1565590176
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)	rs397516998
NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe)	rs794729134
NM_001005242.3(PKP2):c.1616T>C (p.Ile539Thr)	rs1956409566
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)	rs1555143127
NM_001005242.3(PKP2):c.1666G>A (p.Asp556Asn)	rs747627830
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn)	rs794729112
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del)	rs750084387
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met)	rs770909247
NM_001005242.3(PKP2):c.1928T>G (p.Leu643Arg)	rs794729113
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe)	rs397517018
NM_001005242.3(PKP2):c.202G>A (p.Gly68Ser)	rs794729114
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg)	rs145553222
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)	rs543233804
NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser)	rs1592726250
NM_001005242.3(PKP2):c.2357C>A (p.Ala786Asp)	rs1057518582
NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr)	rs768808114
NM_001005242.3(PKP2):c.2408T>C (p.Leu803Pro)	rs1064794215
NM_001005242.3(PKP2):c.2446-8T>G	rs794729101
NM_001005242.3(PKP2):c.2508del (p.Asp837fs)
NM_001005242.3(PKP2):c.250C>T (p.Pro84Ser)	rs756468173
NM_001005242.3(PKP2):c.277G>T (p.Val93Phe)	rs1201468352
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala)	rs139215336
NM_001005242.3(PKP2):c.457G>A (p.Asp153Asn)	rs747856983
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala)	rs794729102
NM_001005242.3(PKP2):c.539A>G (p.His180Arg)
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)	rs756376477
NM_001005242.3(PKP2):c.761A>C (p.Asn254Thr)	rs769542968
NM_001005242.3(PKP2):c.896G>A (p.Arg299His)	rs755425370
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser)	rs200069860
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005242.3(PKP2):c.980G>A (p.Gly327Glu)	rs759660796

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