PKP2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5840741.	NC_000012.12:g.(?_32792404)_(32896751_?)del GRCh37: Chr12:32945338-33049685 GRCh38: Chr12:32792404-32896751	PKP2		Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Apr 26, 2018)	criteria provided, single submitter
Select item 4065532.	NM_001005242.3(PKP2):c.2437_2445+41del GRCh37: Chr12:32945537-32945586 GRCh38: Chr12:32792603-32792652	PKP2		Arrhythmogenic right ventricular dysplasia 9, Familial isolated arrhythmogenic right ventricular dysplasia, Cardiomyopathy	Likely pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4644263.	NM_001005242.3(PKP2):c.2422del (p.Glu808fs) GRCh37: Chr12:32945601 GRCh38: Chr12:32792667	PKP2	E852fs, E808fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 1793154.	NM_001005242.3(PKP2):c.2419del (p.Thr807fs) GRCh37: Chr12:32945604 GRCh38: Chr12:32792670	PKP2	T851fs, T807fs	Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic (Apr 8, 2015)	criteria provided, single submitter
Select item 13694325.	NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs) GRCh37: Chr12:32945612-32945615 GRCh38: Chr12:32792678-32792681	PKP2	L847fs, L803fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 2019676.	NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro) GRCh37: Chr12:32945624 GRCh38: Chr12:32792690	PKP2	L844P, L800P	not provided	Likely pathogenic (Jul 2, 2012)	criteria provided, single submitter
Select item 2019667.	NM_001005242.3(PKP2):c.2390C>T (p.Ser797Phe) GRCh37: Chr12:32945633 GRCh38: Chr12:32792699	PKP2	S841F, S797F	not provided	Likely pathogenic (Mar 26, 2014)	criteria provided, single submitter
Select item 17924798.	NM_001005242.3(PKP2):c.2385del (p.Ala796fs) GRCh37: Chr12:32945638 GRCh38: Chr12:32792704	PKP2	A796fs, A840fs	Cardiovascular phenotype	Likely pathogenic (Dec 4, 2019)	criteria provided, single submitter
Select item 1779959.	NM_001005242.3(PKP2):c.2377del (p.Ser793fs) GRCh37: Chr12:32945646 GRCh38: Chr12:32792712	PKP2	S793fs	Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic/Likely pathogenic (Nov 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202980610.	NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs) GRCh37: Chr12:32945657-32945664 GRCh38: Chr12:32792723-32792730	PKP2	Y831fs, Y787fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 93676411.	NM_001005242.3(PKP2):c.2358-1_2358delinsTT GRCh37: Chr12:32945665-32945666 GRCh38: Chr12:32792731-32792732	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 97828112.	NM_001005242.3(PKP2):c.2358-2A>G GRCh37: Chr12:32945667 GRCh38: Chr12:32792733	PKP2		Arrhythmogenic right ventricular dysplasia 1	Likely pathogenic (Nov 15, 2019)	criteria provided, single submitter
Select item 41948513.	NM_001005242.3(PKP2):c.2357+4A>C GRCh37: Chr12:32949039 GRCh38: Chr12:32796105	PKP2		not provided	Pathogenic (Jul 24, 2015)	criteria provided, single submitter
Select item 4507114.	NM_001005242.3(PKP2):c.2357+1G>T GRCh37: Chr12:32949042 GRCh38: Chr12:32796108	PKP2		not provided, Arrhythmogenic right ventricular dysplasia 9	Pathogenic/Likely pathogenic (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 675715.	NM_001005242.3(PKP2):c.2357+1G>A GRCh37: Chr12:32949042 GRCh38: Chr12:32796108	PKP2		Aborted sudden cardiac death, Arrhythmogenic ventricular cardiomyopathy, Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25405116.	NM_004572.3(PKP2):c.2146-?_2489+?del GRCh37: Chr12:32949043-32955490 GRCh38: Chr12:32796109-32802556	PKP2		Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jan 23, 2017)	criteria provided, single submitter
Select item 180637617.	NM_001005242.3(PKP2):c.2346del (p.Ser782fs) GRCh37: Chr12:32949054 GRCh38: Chr12:32796120	PKP2	S782fs, S826fs	Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Jul 2, 2020)	criteria provided, single submitter
Select item 18866318.	NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) GRCh37: Chr12:32949084-32949089 GRCh38: Chr12:32796150-32796155	PKP2	N771fs	Long QT syndrome 1	Likely pathogenic (Jun 29, 2016)	criteria provided, single submitter
Select item 98746619.	NM_001005242.3(PKP2):c.2291dup (p.Asn765fs) GRCh37: Chr12:32949108-32949109 GRCh38: Chr12:32796174-32796175	PKP2	N765fs, N809fs	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 94359120.	NM_001005242.3(PKP2):c.2282del (p.Asn761fs) GRCh37: Chr12:32949118 GRCh38: Chr12:32796184	PKP2	N761fs, N805fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Feb 5, 2020)	criteria provided, single submitter
Select item 93836721.	NM_001005242.3(PKP2):c.2276del (p.Ile759fs) GRCh37: Chr12:32949124 GRCh38: Chr12:32796190	PKP2	I803fs, I759fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jun 21, 2019)	criteria provided, single submitter
Select item 87007522.	NM_001005242.3(PKP2):c.2259C>A (p.Tyr753Ter) GRCh37: Chr12:32949141 GRCh38: Chr12:32796207	PKP2	Y753, Y797	Sudden unexplained death	Pathogenic (Sep 14, 2018)	criteria provided, single submitter
Select item 20196523.	NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) GRCh37: Chr12:32949146 GRCh38: Chr12:32796212	PKP2	C796R, C752R	not provided, Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20200824.	NM_001005242.3(PKP2):c.2253del (p.Cys752fs) GRCh37: Chr12:32949147 GRCh38: Chr12:32796213	PKP2	C796fs, C752fs	not provided	Pathogenic (Oct 25, 2013)	criteria provided, single submitter
Select item 169175325.	NM_001005242.3(PKP2):c.2247del (p.Ser750fs) GRCh37: Chr12:32949153 GRCh38: Chr12:32796219	PKP2	S750fs, S794fs	not provided	Likely pathogenic (Jun 17, 2022)	criteria provided, single submitter
Select item 87009626.	NM_001005242.3(PKP2):c.2229dup (p.Leu744fs) GRCh37: Chr12:32949170-32949171 GRCh38: Chr12:32796236-32796237	PKP2	L788fs, L744fs	Aborted sudden cardiac death	Likely pathogenic (Jul 23, 2018)	criteria provided, single submitter
Select item 4506527.	NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) GRCh37: Chr12:32949194-32949198 GRCh38: Chr12:32796260-32796264	PKP2	P735fs, P779fs	Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic/Likely pathogenic (Nov 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 42020928.	NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) GRCh37: Chr12:32949219-32949220 GRCh38: Chr12:32796285-32796286	PKP2	L771fs, L727fs	Familial isolated arrhythmogenic right ventricular dysplasia, Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 9	Pathogenic/Likely pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20200729.	NM_001005242.3(PKP2):c.2169del (p.Glu725fs) GRCh37: Chr12:32949231 GRCh38: Chr12:32796297	PKP2	E725fs, E769fs	not provided	Pathogenic (Jun 21, 2012)	criteria provided, single submitter
Select item 40655030.	NM_001005242.3(PKP2):c.2168-1G>A GRCh37: Chr12:32949233 GRCh38: Chr12:32796299	PKP2		not provided, Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93575831.	NM_001005242.3(PKP2):c.2161_2167+1008del GRCh37: Chr12:32954329-32955343 GRCh38: Chr12:32801395-32802409	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Jul 1, 2019)	criteria provided, single submitter
Select item 58414832.	NC_000012.12:g.(?_32802383)_(32802576_?)del GRCh37: Chr12:32955317-32955510 GRCh38: Chr12:32802383-32802576	PKP2		Arrhythmogenic right ventricular dysplasia 9	Pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 178920633.	NM_001005242.3(PKP2):c.2167+1G>T GRCh37: Chr12:32955336 GRCh38: Chr12:32802402	PKP2		Cardiovascular phenotype	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 20200534.	NM_001005242.3(PKP2):c.2167+1G>A GRCh37: Chr12:32955336 GRCh38: Chr12:32802402	PKP2		Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 9	Pathogenic/Likely pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64057835.	NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs) GRCh37: Chr12:32955355-32955356 GRCh38: Chr12:32802421-32802422	PKP2	L718fs, L762fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 31, 2018)	criteria provided, single submitter
Select item 20202336.	NM_001005242.3(PKP2):c.2142del (p.Asn715fs) GRCh37: Chr12:32955362 GRCh38: Chr12:32802428	PKP2	N715fs, N759fs	not provided	Likely pathogenic (Apr 19, 2016)	criteria provided, single submitter
Select item 63522837.	NM_001005242.3(PKP2):c.2108del (p.Lys703fs) GRCh37: Chr12:32955396 GRCh38: Chr12:32802462	PKP2	K747fs, K703fs	not provided	Likely pathogenic (Nov 16, 2016)	no assertion criteria provided
Select item 244295638.	NM_001005242.3(PKP2):c.2084_2085del (p.His695fs) GRCh37: Chr12:32955419-32955420 GRCh38: Chr12:32802485-32802486	PKP2	H695fs, H739fs	Cardiomyopathy	Likely pathogenic (Aug 11, 2021)	criteria provided, single submitter
Select item 23995639.	NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs) GRCh37: Chr12:32955433-32955438 GRCh38: Chr12:32802499-32802504	PKP2	H689fs, H733fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Mar 27, 2016)	criteria provided, single submitter
Select item 675540.	NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) GRCh37: Chr12:32955433 GRCh38: Chr12:32802499	PKP2	R735, R691	Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, not provided, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68932141.	NM_001005242.3(PKP2):c.2066_2070del (p.His689fs) GRCh37: Chr12:32955434-32955438 GRCh38: Chr12:32802500-32802504	PKP2	H689fs, H733fs	Arrhythmogenic right ventricular dysplasia 9, not provided	Pathogenic (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4506342.	NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) GRCh37: Chr12:32955434-32955439 GRCh38: Chr12:32802500-32802505	PKP2	H689fs, H733fs	Familial isolated arrhythmogenic right ventricular dysplasia, Cardiovascular phenotype, not provided, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83947343.	NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter) GRCh37: Chr12:32955442 GRCh38: Chr12:32802508	PKP2	Q688, Q732	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93524044.	NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter) GRCh37: Chr12:32955457 GRCh38: Chr12:32802523	PKP2	K683, K727	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 132142445.	NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter) GRCh37: Chr12:32955460 GRCh38: Chr12:32802526	PKP2	Q682, Q726	Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 675646.	NM_001005242.3(PKP2):c.2014-1G>C GRCh37: Chr12:32955491 GRCh38: Chr12:32802557	PKP2		Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37977547.	NM_001005242.3(PKP2):c.2013+1G>C GRCh37: Chr12:32974289 GRCh38: Chr12:32821355	PKP2		not provided	Likely pathogenic (Jul 31, 2017)	criteria provided, single submitter
Select item 178631048.	NM_001005242.3(PKP2):c.1993del (p.Leu665fs) GRCh37: Chr12:32974310 GRCh38: Chr12:32821376	PKP2	L665fs, L709fs	Cardiovascular phenotype	Pathogenic (May 19, 2020)	criteria provided, single submitter
Select item 4505949.	NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter) GRCh37: Chr12:32974316 GRCh38: Chr12:32821382	PKP2	Q707, Q663	not provided, Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91578650.	NM_001005242.3(PKP2):c.1968del (p.Ala657fs) GRCh37: Chr12:32974335 GRCh38: Chr12:32821401	PKP2	A657fs, A701fs	Cardiomyopathy	Likely pathogenic (Mar 14, 2019)	criteria provided, single submitter
Select item 213731151.	NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter) GRCh37: Chr12:32974340 GRCh38: Chr12:32821406	PKP2	Q655, Q546, Q600, Q699	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 40655452.	NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs) GRCh37: Chr12:32974352-32974354 GRCh38: Chr12:32821418-32821420	PKP2	V650fs, V694fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 4, 2016)	criteria provided, single submitter
Select item 97833153.	NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) GRCh37: Chr12:32974377 GRCh38: Chr12:32821443	PKP2	Y642, Y686	Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular dysplasia 9	Pathogenic/Likely pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169317954.	NM_001005242.3(PKP2):c.1904del (p.His635fs) GRCh37: Chr12:32974399 GRCh38: Chr12:32821465	PKP2	H635fs, H679fs	Arrhythmogenic right ventricular cardiomyopathy	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 201779255.	NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter) GRCh37: Chr12:32974402 GRCh38: Chr12:32821468	PKP2	W579, W678, W525, W634	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 3668256.	NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) GRCh37: Chr12:32974407 GRCh38: Chr12:32821473	PKP2	W676, W632	not provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic/Likely pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180508557.	NM_001005242.3(PKP2):c.1883_1887delinsG (p.Lys628fs) GRCh37: Chr12:32974416-32974420 GRCh38: Chr12:32821482-32821486	PKP2	K628fs, K672fs	Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 20202258.	NM_001005242.3(PKP2):c.1881del (p.Lys628fs) GRCh37: Chr12:32974422 GRCh38: Chr12:32821488	PKP2	K628fs, K672fs	Cardiovascular phenotype, Cardiac arrhythmia, Arrhythmogenic right ventricular dysplasia 9, not provided, Cardiomyopathy	Pathogenic (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4505459.	NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter) GRCh37: Chr12:32974436 GRCh38: Chr12:32821502	PKP2	E667, E623	Arrhythmogenic right ventricular cardiomyopathy	Pathogenic (May 6, 2010)	criteria provided, single submitter
Select item 66142460.	NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter) GRCh37: Chr12:32974457 GRCh38: Chr12:32821523	PKP2	Q660, Q616	Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145211061.	NM_001005242.3(PKP2):c.1842dup (p.Tyr615fs) GRCh37: Chr12:32974460-32974461 GRCh38: Chr12:32821526-32821527	PKP2	Y615fs, Y659fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 106679062.	NM_001005242.3(PKP2):c.1840-1G>C GRCh37: Chr12:32974464 GRCh38: Chr12:32821530	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 244185163.	NM_001005242.3(PKP2):c.1839+2T>A GRCh37: Chr12:32975399 GRCh38: Chr12:32822465	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Nov 5, 2022)	criteria provided, single submitter
Select item 145957164.	NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter) GRCh37: Chr12:32975406 GRCh38: Chr12:32822472	PKP2	K656, K612	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jan 28, 2021)	criteria provided, single submitter
Select item 42334965.	NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) GRCh37: Chr12:32975411-32975433 GRCh38: Chr12:32822477-32822499	PKP2	C603fs	Cardiovascular phenotype, not provided, Cardiomyopathy	Pathogenic/Likely pathogenic (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4505166.	NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) GRCh37: Chr12:32975416-32975417 GRCh38: Chr12:32822482-32822483	PKP2	S652fs, S608fs	Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20199867.	NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) GRCh37: Chr12:32975421 GRCh38: Chr12:32822487	PKP2	R651, R607	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9, not provided	Pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52370368.	NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) GRCh37: Chr12:32975436-32975437 GRCh38: Chr12:32822502-32822503	PKP2	G602, G646	Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy	Likely pathogenic (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178265969.	NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs) GRCh37: Chr12:32975451-32975452 GRCh38: Chr12:32822517-32822518	PKP2	D640fs, D596fs	Cardiovascular phenotype	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 4504970.	NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) GRCh37: Chr12:32975460 GRCh38: Chr12:32822526	PKP2	Q638, Q594	Familial isolated arrhythmogenic right ventricular dysplasia, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51887871.	NM_001005242.3(PKP2):c.1771del (p.Arg591fs) GRCh37: Chr12:32975469 GRCh38: Chr12:32822535	PKP2	R635fs, R591fs	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 41841172.	NM_001005242.3(PKP2):c.1769del (p.Asn590fs) GRCh37: Chr12:32975471 GRCh38: Chr12:32822537	PKP2	N634fs, N590fs	Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169321673.	NM_001005242.3(PKP2):c.1755del (p.Asn585fs) GRCh37: Chr12:32975485 GRCh38: Chr12:32822551	PKP2	N585fs, N629fs	Arrhythmogenic right ventricular cardiomyopathy	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 141220574.	NM_001005242.3(PKP2):c.1750C>T (p.Gln584Ter) GRCh37: Chr12:32975490 GRCh38: Chr12:32822556	PKP2	Q584, Q628	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 202221075.	NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs) GRCh37: Chr12:32975497-32975498 GRCh38: Chr12:32822563-32822564	PKP2	K581fs, K625fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 135430276.	NM_001005242.3(PKP2):c.1738G>T (p.Glu580Ter) GRCh37: Chr12:32975502 GRCh38: Chr12:32822568	PKP2	E580, E624	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 20203377.	NM_001005242.3(PKP2):c.1723G>T (p.Glu575Ter) GRCh37: Chr12:32975517 GRCh38: Chr12:32822583	PKP2	E619, E575	not provided	Likely pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 19103578.	NM_001005242.3(PKP2):c.1719G>C (p.Gln573His) GRCh37: Chr12:32975521 GRCh38: Chr12:32822587	PKP2	Q617H, Q573H	not provided	Likely pathogenic	no assertion criteria provided
Select item 20199779.	NM_001005242.3(PKP2):c.1717C>T (p.Gln573Ter) GRCh37: Chr12:32975523 GRCh38: Chr12:32822589	PKP2	Q617, Q573	not provided	Likely pathogenic (Aug 1, 2011)	no assertion criteria provided
Select item 51825080.	NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter) GRCh37: Chr12:32975524 GRCh38: Chr12:32822590	PKP2	Y616, Y572	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 8, 2014)	criteria provided, single submitter
Select item 40655581.	NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe) GRCh37: Chr12:32975528 GRCh38: Chr12:32822594	PKP2	S615F, S571F	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 49625682.	NM_001005242.3(PKP2):c.1708del (p.Leu570fs) GRCh37: Chr12:32975532 GRCh38: Chr12:32822598	PKP2	L614fs, L570fs	Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic (May 10, 2016)	criteria provided, multiple submitters, no conflicts
Select item 20199683.	NM_001005242.3(PKP2):c.1700T>G (p.Leu567Arg) GRCh37: Chr12:32975540 GRCh38: Chr12:32822606	PKP2	L611R, L567R	not provided	Likely pathogenic (May 25, 2012)	criteria provided, single submitter
Select item 4504784.	NM_001005242.3(PKP2):c.1689dup (p.Val564fs) GRCh37: Chr12:32975550-32975551 GRCh38: Chr12:32822616-32822617	PKP2	V608fs, V564fs	Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9	Pathogenic/Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152260185.	NM_001005242.3(PKP2):c.1675-2A>G GRCh37: Chr12:32975567 GRCh38: Chr12:32822633	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 58390486.	NC_000012.12:g.(?_32824025)_(32824182_?)del GRCh37: Chr12:32976959-32977116 GRCh38: Chr12:32824025-32824182	PKP2		Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Apr 10, 2018)	criteria provided, single submitter
Select item 16494587.	NM_004572.3(PKP2):c.(?_1689)_(1806_?)del GRCh37: Chr12:32976979-32977096 GRCh38: Chr12:32824045-32824162	PKP2		Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic (Mar 24, 2014)	criteria provided, single submitter
Select item 204570988.	NM_001005242.3(PKP2):c.1673del (p.Lys558fs) GRCh37: Chr12:32976980 GRCh38: Chr12:32824046	PKP2	K558fs, K602fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 20199489.	NM_001005242.3(PKP2):c.1672A>T (p.Lys558Ter) GRCh37: Chr12:32976981 GRCh38: Chr12:32824047	PKP2	K602, K558	not provided	Pathogenic (Apr 14, 2014)	criteria provided, single submitter
Select item 20202190.	NM_001005242.3(PKP2):c.1671del (p.Asp557fs) GRCh37: Chr12:32976982 GRCh38: Chr12:32824048	PKP2	D601fs, D557fs	not provided, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20202091.	NM_001005242.3(PKP2):c.1667del (p.Asp556fs) GRCh37: Chr12:32976986 GRCh38: Chr12:32824052	PKP2	D556fs, D600fs	not provided, Cardiovascular phenotype	Pathogenic (Apr 18, 2018)	criteria provided, multiple submitters, no conflicts
Select item 20199392.	NM_001005242.3(PKP2):c.1635T>G (p.Tyr545Ter) GRCh37: Chr12:32977018 GRCh38: Chr12:32824084	PKP2	Y589, Y545	not provided	Pathogenic (Nov 25, 2020)	criteria provided, single submitter
Select item 4504693.	NM_001005242.3(PKP2):c.1628del (p.Val543fs) GRCh37: Chr12:32977025 GRCh38: Chr12:32824091	PKP2	V543fs, V587fs	not provided, Arrhythmogenic right ventricular cardiomyopathy	Pathogenic/Likely pathogenic (Jun 28, 2016)	criteria provided, multiple submitters, no conflicts
Select item 4504594.	NM_001005242.3(PKP2):c.1627del (p.Val543fs) GRCh37: Chr12:32977026 GRCh38: Chr12:32824092	PKP2	V543fs, V587fs	Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy	Pathogenic/Likely pathogenic (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40654595.	NM_001005242.3(PKP2):c.1625del (p.Leu542fs) GRCh37: Chr12:32977028 GRCh38: Chr12:32824094	PKP2	L542fs, L586fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jan 30, 2017)	criteria provided, single submitter
Select item 107227196.	NM_001005242.3(PKP2):c.1616_1623dup (p.Val543fs) GRCh37: Chr12:32977029-32977030 GRCh38: Chr12:32824095-32824096	PKP2	V543fs, V587fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 40655197.	NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs) GRCh37: Chr12:32977056-32977057 GRCh38: Chr12:32824122-32824123	PKP2	R577fs, R533fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 69182298.	NM_001005242.3(PKP2):c.1584del (p.Arg529fs) GRCh37: Chr12:32977069 GRCh38: Chr12:32824135	PKP2	R529fs, R573fs	Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic (Jul 3, 2019)	criteria provided, single submitter
Select item 4504199.	NM_001005242.3(PKP2):c.1577del (p.Ala526fs) GRCh37: Chr12:32977076 GRCh38: Chr12:32824142	PKP2	A570fs, A526fs	Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic (Nov 15, 2010)	criteria provided, single submitter
Select item 201989100.	NM_001005242.3(PKP2):c.1557-1G>C GRCh37: Chr12:32977097 GRCh38: Chr12:32824163	PKP2		not provided, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts

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