All variants in the PKP2 gene

Information The variants shown are described using the NM_004572.3 transcript reference sequence.

931 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 1 c.-22C>G r.(?) p.(=) - - VUS g.33049687G>C g.32896753G>C - - PKP2_000163 - unpublished, ARVD/C database 8064 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.-15G>T r.(?) p.(=) - - benign g.33049680C>A - PKP2(NM_004572.3):c.-15G>T - PKP2_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-7C>T r.(?) p.(=) - - benign g.33049672G>A g.32896738G>A PKP2(NM_004572.3):c.-7C>T - PKP2_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/? 1 c.-5G>T r.(?) p.(=) - - VUS g.33049670C>A g.32896736C>A - - PKP2_000007 - unpublished, ARVD/C database 7756 - - Germline - - - 0 - Paul van der Zwaag
+/. _1_14_ c.0 r.0 p.0 - - VUS g.(?_32943680)_(33049780_?)del - 1-?_*?del - PKP2_000165 - unpublished, ARVD/C database 8235 - - Germline - - - 0 - Paul van der Zwaag
?/? 3 c.1029G>Y r.(?) p.(Gln343His) - - VUS g.33030785C>R - - - PKP2_000214 DNA change not specified unpublished, ARVD/C database 8203 - - Germline - - - 0 - Paul van der Zwaag
+/? 11 c.2166G>Y r.(?) p.(Gln722His) Armadillo 6 - pathogenic g.32955470C>R - - - PKP2_000089 - Journal: Wlodarska 2008, ARVD/C database 7492 - - Germline - - - 0 - Paul van der Zwaag
+?/? 2 c.336G>Y r.(?) p.(Lys112Asn) N-terminus - likely pathogenic g.33031854C>R - - - PKP2_000132 DNA change not specified Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7887 - - Germline - - - 0 - Paul van der Zwaag
+/+ 3 c.954_(delins)? r.(?) p.(His318Trpfs*10?) N-terminus - pathogenic g.? - W318fsX327 - PKP2_000146 DNA change not specified Journal: Wlodarska 2008, ARVD/C database 7455 - - Germline - - - 0 - Paul van der Zwaag
?/? 1i c.1-?_542+?del r.0 p.0 - - VUS g.33031272_33049665del - - - PKP2_000164 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. unpublished, ARVD/C database 8234 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.12C>T r.(?) p.(Pro4=) - - likely benign g.33049654G>A g.32896720G>A PKP2(NM_004572.3):c.12C>T (p.P4=) - PKP2_000478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.12C>T r.(?) p.(Pro4=) - - VUS g.33049654G>A g.32896720G>A PKP2(NM_004572.3):c.12C>T (p.P4=) - PKP2_000478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.14G>A r.(?) p.(Gly5Asp) - - VUS g.33049652C>T g.32896718C>T PKP2(NM_004572.3):c.14G>A (p.G5D) - PKP2_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.14G>A r.(?) p.(Gly5Asp) - - VUS g.33049652C>T g.32896718C>T PKP2(NM_004572.3):c.14G>A (p.G5D) - PKP2_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.19C>T r.(?) p.(Pro7Ser) - - likely benign g.33049647G>A g.32896713G>A - - PKP2_000477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.45C>T r.(?) p.(Thr15=) - - likely benign g.33049621G>A g.32896687G>A PKP2(NM_004572.3):c.45C>T (p.T15=) - PKP2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/? 1 c.45C>T r.(?) p.(=) N-terminus - VUS g.33049621G>A g.32896687G>A - - PKP2_000161 - PubMed: De Bortoli, ARVD/C database 7985 - - Germline - - - 0 - Paul van der Zwaag
+/+ 1 c.55C>T r.(?) p.(Gln19*) N-terminus - pathogenic g.33049611G>A g.32896677G>A - - PKP2_000008 - unpublished, ARVD/C database 7757 - - Germline - - - 0 - Paul van der Zwaag
?/. - c.68G>A r.(?) p.(Gly23Glu) - - VUS g.33049598C>T g.32896664C>T - - PKP2_000524 - PubMed: Walsh 2017 - - Germline - 1/361 cases - 0 - Johan den Dunnen
-?/. 1 c.76G>A r.(?) p.(Asp26Asn) - - likely benign g.33049590C>T g.32896656C>T 76C>T - PKP2_000001 - PubMed: van Spaendonck-Zwarts 2014 - - Unknown ? - - 0 - Johan den Dunnen
?/. 1 c.76G>A r.(?) p.(Asp26Asn) - - VUS g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: Brun 2014, Journal: Brun 2014 - - Germline - - - 0 - Johan den Dunnen
-/. - c.76G>A r.(?) p.(Asp26Asn) - - benign g.33049590C>T g.32896656C>T PKP2(NM_004572.3):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.76G>A r.(?) p.(Asp26Asn) - - benign g.33049590C>T g.32896656C>T PKP2(NM_004572.3):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.76G>A r.(?) p.(Asp26Asn) - - benign g.33049590C>T g.32896656C>T PKP2(NM_004572.3):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.76G>A r.(?) p.(Asp26Asn) - - benign g.33049590C>T g.32896656C>T PKP2(NM_004572.3):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus - VUS g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: van Tintelen, ARVD/C database 7436 - - Germline - - - 0 - Paul van der Zwaag
-/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus - benign g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: Koopmann, ARVD/C database 7436 - - Germline - - - 0 - Paul van der Zwaag
+/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus - pathogenic g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: Krahn, ARVD/C database 7436 - - Germline - - - 0 - Paul van der Zwaag
?/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus - VUS g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: Christensen, ARVD/C database 7436 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.76G>A r.(?) p.(Asp26Asn) - - benign g.33049590C>T g.32896656C>T PKP2(NM_004572.3):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.76G>A r.(?) p.(Asp26Asn) - - likely benign g.33049590C>T g.32896656C>T - - PKP2_000001 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143004808 Germline - 21/2793 individuals - 0 - Mohammed Faruq
?/? 1 c.84del r.(?) p.(Ser29Alafs*10) - - VUS g.33049583del g.32896649del 83delC - PKP2_000167 - unpublished, ARVD/C database 8246 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.96G>A r.(?) p.(Leu32=) - - likely benign g.33049570C>T g.32896636C>T - - PKP2_000493 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.101C>A r.(?) p.(Ser34Tyr) - - VUS g.33049565G>T g.32896631G>T - - PKP2_000331 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - - Germline ? - - 0 - Judith Verhagen
-?/. - c.134G>A r.(?) p.(Gly45Asp) - - likely benign g.33049532C>T g.32896598C>T PKP2(NM_004572.3):c.134G>A (p.G45D) - PKP2_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.138C>T r.(?) p.(Arg46=) - - likely benign g.33049528G>A g.32896594G>A - - PKP2_000476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.148A>G r.(?) p.(Thr50Ala) - - likely benign g.33049518T>C g.32896584T>C - - PKP2_000492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.148_151del r.(?) p.(Thr50Serfs*61) - - pathogenic g.33049518_33049521del g.32896584_32896587del 148_151delACAG - PKP2_000003 - PubMed: van Tintelen 2006, PubMed: Brun 2014, Journal: Brun 2014 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.148_151del r.(?) p.(Thr50Serfs*61) - - pathogenic g.33049518_33049521del g.32896584_32896587del 144_148delCAGA - PKP2_000003 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database PubMed: Syrris 2006 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.148_151del r.(?) p.(Thr50SerfsTer61) - - pathogenic g.33049518_33049521del g.32896584_32896587del PKP2(NM_004572.3):c.148_151delACAG (p.T50Sfs*61) - PKP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus - pathogenic g.33049518_33049521del g.32896584_32896587del 145_148delCAGA - PKP2_000002 - escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7437 - - Germline - - - 0 - Paul van der Zwaag
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus - pathogenic g.33049518_33049521del g.32896584_32896587del 145_148delCAGA - PKP2_000002 - PubMed: Dalal 2006, ARVD/C database 7437 - - Germline - - - 0 - Paul van der Zwaag
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus - pathogenic g.33049518_33049521del g.32896584_32896587del 145_148delCAGA - PKP2_000002 - PubMed: van Tintelen, PubMed: Bhuiyan, ARVD/C database 7437 - - Germline - - - 0 - Paul van der Zwaag
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus - pathogenic g.33049518_33049521del g.32896584_32896587del 148_151delACAG - PKP2_000003 - PubMed: van Tintelen, ARVD/C database 7438 - - Germline - - - 0 - Paul van der Zwaag
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus - pathogenic g.33049518_33049521del g.32896584_32896587del 148_151delACAG - PKP2_000003 - Journal: Wlodarska 2008, ARVD/C database 7438 - - Germline - - - 0 - Paul van der Zwaag
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus - pathogenic g.33049518_33049521del g.32896584_32896587del 145_148delCAGA - PKP2_000002 - PubMed: Wu, ARVD/C database 7437 - - Germline - - - 0 - Paul van der Zwaag
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus - pathogenic g.33049518_33049521del g.32896584_32896587del 145_148delCAGA - PKP2_000003 - PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371), PubMed: Xu 2010, ARVD/C database 7438 - - Germline - - - 0 - Paul van der Zwaag
+/+ 1 c.148_151del r.(?) p.(Thr50Serfs*61) N-terminus - pathogenic g.33049518_33049521del g.32896584_32896587del 145_148delCAGA - PKP2_000002 - PubMed: Posch, PubMed: Yu, ARVD/C database 7437 - - Germline - - - 0 - Paul van der Zwaag
+/. - c.148_151del r.(?) p.(Thr50Serfs*61) - - pathogenic (dominant) g.33049518_33049521del g.32896584_32896587del c.145_148delCAGA - PKP2_000002 variant in 7 other family members (young), 2 affected PubMed: Bauce 2010 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.148_151del r.(?) p.(Thr50Serfs*61) - - pathogenic (dominant) g.33049518_33049521del g.32896584_32896587del 145_148delCAGA - PKP2_000002 - PubMed: Xu 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.148_151del r.(?) p.(Thr50Serfs*61) - - pathogenic (dominant) g.33049518_33049521del g.32896584_32896587del 145_148delCAGA - PKP2_000002 - PubMed: Xu 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.148_151del r.(?) p.(Thr50Serfs*61) - - pathogenic g.33049518_33049521del g.32896584_32896587del 148_151delACAG - PKP2_000002 - PubMed: Walsh 2017 - - Germline - 2/361 cases - 0 - Johan den Dunnen
-/. - c.156G>A r.(?) p.(Lys52=) - - benign g.33049510C>T g.32896576C>T PKP2(NM_004572.3):c.156G>A (p.K52=) - PKP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/? 1 c.156G>A r.(?) p.(=) N-terminus - likely pathogenic g.33049510C>T g.32896576C>T - - PKP2_000009 - PubMed: Wu, ARVD/C database 7758 - - Germline - - - 0 - Paul van der Zwaag
+?/? 1 c.156G>A r.(?) p.(=) N-terminus - likely pathogenic g.33049510C>T g.32896576C>T - - PKP2_000009 - PubMed: Wu, ARVD/C database 7758 - - Germline - - - 0 - Paul van der Zwaag
?/. - c.158G>T r.(?) p.(Ser53Ile) - - VUS g.33049508C>A g.32896574C>A - - PKP2_000475 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.165G>T r.(?) p.(Arg55=) - - benign g.33049501C>A g.32896567C>A PKP2(NM_004572.3):c.165G>T (p.R55=) - PKP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.165G>T r.(?) p.(Arg55=) - - likely benign g.33049501C>A g.32896567C>A PKP2(NM_004572.3):c.165G>T (p.R55=) - PKP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 1 c.165G>T r.(?) p.(=) N-terminus - VUS g.33049501C>A g.32896567C>A - - PKP2_000010 - unpublished, ARVD/C database 7759 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.168C>T r.(?) p.(Ile56=) - - likely benign g.33049498G>A g.32896564G>A - - PKP2_000491 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.174G>T r.(?) p.(Glu58Asp) - - VUS g.33049492C>A g.32896558C>A NM_001005242:c.G174T - PKP2_000004 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
-/- 1 c.174G>T r.(?) p.(Glu58Asp) N-terminus - benign g.33049492C>A g.32896558C>A - - PKP2_000004 - Journal: Wlodarska 2008, ARVD/C database 7439 - - Germline - - - 0 - Paul van der Zwaag
-/- 1 c.174G>T r.(?) p.(Glu58Asp) N-terminus - benign g.33049492C>A g.32896558C>A - - PKP2_000004 - PubMed: Lahtinen, ARVD/C database 7439 - - Germline - - - 0 - Paul van der Zwaag
?/- 1 c.174G>T r.(?) p.(Glu58Asp) N-terminus - VUS g.33049492C>A g.32896558C>A - - PKP2_000004 - PubMed: De Bortoli, ARVD/C database 7439 - - Germline - - - 0 - Paul van der Zwaag
?/? 1 c.174G>T r.(?) p.(Glu58Asn) - - VUS g.33049492C>A g.32896558C>A - - PKP2_000004 - - - - Germline - - - 0 - Torsten Bloch Rasmussen
-/. - c.174G>T r.(?) p.(Glu58Asp) - - benign g.33049492C>A g.32896558C>A PKP2(NM_004572.3):c.174G>T (p.E58D) - PKP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.174G>T r.(?) p.(Glu58Asp) - - benign g.33049492C>A g.32896558C>A PKP2(NM_004572.3):c.174G>T (p.E58D) - PKP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.174G>T r.(?) p.(Glu58Asp) - - likely benign g.33049492C>A g.32896558C>A PKP2(NM_004572.3):c.174G>T (p.E58D) - PKP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.174G>T r.(?) p.(Glu58Asp) - - likely benign g.33049492C>A g.32896558C>A PKP2(NM_004572.3):c.174G>T (p.E58D) - PKP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.174G>T r.(?) p.(Glu58Asp) - - benign g.33049492C>A g.32896558C>A PKP2(NM_004572.3):c.174G>T (p.E58D) - PKP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.174G>T r.(?) p.(Glu58Asp) - - likely benign g.33049492C>A g.32896558C>A - - PKP2_000004 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146708884 Germline - 12/2794 individuals - 0 - Mohammed Faruq
?/? 1 c.175C>T r.(?) p.(Gln59*) - - VUS g.33049491G>A g.32896557G>A - - PKP2_000168 - unpublished, ARVD/C database 8299 - - Germline - - - 0 - Paul van der Zwaag
+/? 1 c.176A>T r.(?) p.(Gln59Leu) N-terminus - pathogenic g.33049490T>A g.32896556T>A - - PKP2_000005 - PubMed: Lahtinen, ARVD/C database 7440 - - Germline - - - 0 - Paul van der Zwaag
+?/. 1 c.184C>A r.(?) p.(Gln62Lys) - - likely pathogenic g.33049482G>T g.32896548G>T - - PKP2_000006 - - - - Germline - - - 0 - Sofie Lindgren Christiansen
?/. - c.184C>A r.(?) p.(Gln62Lys) - - VUS g.33049482G>T g.32896548G>T - - PKP2_000006 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - Ellika Sahlin
?/. - c.184C>A r.(?) p.(Gln62Lys) - - VUS g.33049482G>T g.32896548G>T PKP2(NM_004572.3):c.184C>A (p.Q62K) - PKP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.184C>A r.(?) p.(Gln62Lys) - - VUS g.33049482G>T g.32896548G>T PKP2(NM_004572.3):c.184C>A (p.Q62K) - PKP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.184C>A r.(?) p.(Gln62Lys) - - VUS g.33049482G>T g.32896548G>T PKP2(NM_004572.3):c.184C>A (p.Q62K) - PKP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.184C>A r.(?) p.(Gln62Lys) - - VUS g.33049482G>T g.32896548G>T PKP2(NM_004572.3):c.184C>A (p.Q62K) - PKP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 1 c.184C>A r.(?) p.(Gln62Lys) N-terminus - VUS g.33049482G>T g.32896548G>T - - PKP2_000006 - PubMed: van Tintelen, ARVD/C database 7441 - - Germline - - - 0 - Paul van der Zwaag
?/? 1 c.184C>A r.(?) p.(Gln62Lys) N-terminus - VUS g.33049482G>T g.32896548G>T - - PKP2_000006 - PubMed: Lahtinen, ARVD/C database 7441 - - Germline - - - 0 - Paul van der Zwaag
?/? 1 c.184C>A r.(?) p.(Gln62Lys) N-terminus - VUS g.33049482G>T g.32896548G>T - - PKP2_000006 - PubMed: Christensen, ARVD/C database 7441 - - Germline - - - 0 - Paul van der Zwaag
+?/? 1 c.184C>A r.(?) p.(Gln62Lys) N-terminus - likely pathogenic g.33049482G>T g.32896548G>T - - PKP2_000006 - PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371), PubMed: Xu 2010, ARVD/C database 7441 - - Germline - - - 0 - Paul van der Zwaag
+/. - c.184C>A r.(?) p.(Gln62Lys) - - pathogenic (dominant) g.33049482G>T g.32896548G>T - - PKP2_000006 variant in 5 other family members, 3 affected PubMed: Bauce 2010 - - Germline - - - 0 - Johan den Dunnen
?/. - c.184C>A r.(?) p.(Gln62Lys) - - VUS g.33049482G>T g.32896548G>T PKP2(NM_004572.3):c.184C>A (p.Q62K) - PKP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 c.184_185del r.(?) p.(Gln62Aspfs*23) N-terminus - pathogenic g.33049481_33049482del g.32896547_32896548del 184_185delCA? - PKP2_000130 DNA change not specified Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7885 - - Germline - - - 0 - Paul van der Zwaag
?/? 1 c.190dup r.(?) p.(Leu64Profs*22) - - VUS g.33049478dup g.32896544dup 187_188insC - PKP2_000169 - unpublished, ARVD/C database 8255 - - Germline - - - 0 - Paul van der Zwaag
?/? 1 c.193G>T r.(?) p.(Ala65Ser) - - VUS g.33049473C>A g.32896539C>A - - PKP2_000171 - unpublished, ARVD/C database 8034 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.195C>T r.(?) p.(Ala65=) - - benign g.33049471G>A g.32896537G>A PKP2(NM_004572.3):c.195C>T (p.A65=) - PKP2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.195C>T r.(?) p.(Ala65=) - - likely benign g.33049471G>A g.32896537G>A PKP2(NM_004572.3):c.195C>T (p.A65=) - PKP2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/? 1 c.195C>T r.(?) p.(Ala65=) - - VUS g.33049471G>A g.32896537G>A - - PKP2_000170 - unpublished, ARVD/C database 8122 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.209G>T r.(?) p.(Ser70Ile) - - benign g.33049457C>A g.32896523C>A PKP2(NM_004572.3):c.209G>T (p.S70I) - PKP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.209G>T r.(?) p.(Ser70Ile) - - benign g.33049457C>A g.32896523C>A PKP2(NM_004572.3):c.209G>T (p.S70I) - PKP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.209G>T r.(?) p.(Ser70Ile) - - benign g.33049457C>A g.32896523C>A PKP2(NM_004572.3):c.209G>T (p.S70I) - PKP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.209G>T r.(?) p.(Ser70Ile) - - benign g.33049457C>A g.32896523C>A PKP2(NM_004572.3):c.209G>T (p.S70I) - PKP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/- 1 c.209G>T r.(?) p.(Ser70Ile) N-terminus - benign g.33049457C>A g.32896523C>A - - PKP2_000011 - PubMed: Koopmann, ARVD/C database 7587 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.209G>T r.(?) p.(Ser70Ile) - - benign g.33049457C>A g.32896523C>A PKP2(NM_004572.3):c.209G>T (p.S70I) - PKP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 c.214G>T r.(?) p.(Val72Leu) - - VUS g.33049452C>A g.32896518C>A - - PKP2_000172 - unpublished, ARVD/C database 8605 - - Germline - - - 0 - Paul van der Zwaag
?/. - c.214G>T r.(?) p.(Val72Leu) - - VUS g.33049452C>A g.32896518C>A - - PKP2_000172 - PubMed: Walsh 2017 - - Germline - 1/123 cases - 0 - Johan den Dunnen
+/. - c.215del r.(?) p.(Val72Glyfs*40) - - pathogenic g.33049451del g.32896517del - - PKP2_000523 - PubMed: Walsh 2017 - - Germline - 1/361 cases - 0 - Johan den Dunnen
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