List of variants reported as pathogenic for polymorphic ventricular tachycardia by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 178

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HGVS	dbSNP	gnomAD frequency
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)	rs397515458	0.00006
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)	rs139228801	0.00003
NM_006073.4(TRDN):c.22+29A>G	rs774068079	0.00003
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)	rs1436844070	0.00002
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)	rs1695348814	0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)	rs764698152	0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	rs190140598	0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)	rs730880194	0.00001
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val)	rs1209752961	0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)	rs758748280	0.00001
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter)	rs754834466	0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)	rs776874142	0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)	rs749547712	0.00001
NM_006073.4(TRDN):c.176C>T (p.Thr59Met)	rs397515459	0.00001
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter)	rs1468290898	0.00001
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter)	rs1198103383	0.00001
NC_000001.10:g.(?_116243862)_(116244067_?)del
NC_000001.10:g.(?_116269603)_(116269753_?)del
NC_000001.10:g.(?_116287429)_(116287553_?)del
NC_000001.10:g.(?_237494158)_(237494302_?)del
NC_000001.11:g.(?_237330868)_(237330992_?)del
NC_000006.11:g.(?_123539746)_(123957920_?)del
NC_000006.11:g.(?_123759188)_(123957920_?)del
NC_000006.11:g.(?_123892048)_(123957920_?)del
NC_000006.11:g.(?_123957879)_(123957920_?)del
NC_000006.12:g.123503896TCTGT[1]
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)	rs1689344988
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	rs1401116572
NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)	rs1060500137
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg)	rs794728704
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser)	rs794728777
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)	rs1226397753
NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln)	rs794728778
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)	rs1064794210
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)	rs1553454821
NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys)	rs794728781
NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu)	rs2149353116
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val)	rs794728783
NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg)	rs771994461
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr)	rs761834154
NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu)
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys)	rs1234449785
NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr)	rs2149353940
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)	rs794728786
NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)	rs1558405653
NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)	rs794728787
NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe)
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)	rs794728721
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)	rs121918605
NM_001035.3(RYR2):c.12603G>T (p.Gln4201His)	rs2149354441
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	rs121918600
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)	rs397516510
NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro)	rs397516510
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)	rs876661386
NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu)	rs2149388042
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)	rs1553328170
NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu)	rs2149388137
NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala)	rs1658967336
NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp)
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)	rs794728802
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser)	rs794728803
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)	rs794728804
NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu)	rs1291829047
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)	rs1558481148
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)	rs1553339086
NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile)	rs2102926494
NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser)	rs2102947297
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)	rs1663793007
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)	rs794728811
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)	rs794728832
NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)
NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)	rs1060500142
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)	rs794728706
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)	rs1558698334
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)	rs794728761
NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)	rs397516539
NM_001035.3(RYR2):c.514G>A (p.Gly172Arg)	rs1701129738
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)	rs794728740
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	rs794728708
NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)
NM_001035.3(RYR2):c.567A>T (p.Glu189Asp)	rs1415931588
NM_001035.3(RYR2):c.6504C>A (p.His2168Gln)	rs760237464
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln)	rs760237464
NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)
NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)	rs1558103974
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)	rs121918597
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)	rs1060500156
NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu)	rs2148724390
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile)	rs794728746
NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp)	rs794728747
NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val)
NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala)	rs121918603
NM_001035.3(RYR2):c.7010G>T (p.Gly2337Val)	rs2148727943
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)	rs121918601
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)	rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)	rs794728754
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	rs794728756
NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys)	rs2148739141
NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg)
NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys)	rs2148789775
NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp)	rs1682561583
NM_001035.3(RYR2):c.7906G>A (p.Glu2636Lys)	rs1683044033
NM_001232.4(CASQ2):c.1014+1G>A	rs1654250819
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)	rs1553191909
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)	rs756636650
NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter)
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)	rs1553197939
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)	rs786205106
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)	rs775663612
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
NM_001232.4(CASQ2):c.421-2A>T
NM_001232.4(CASQ2):c.45del (p.Ser16fs)
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter)	rs1648034747
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)	rs375598471
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
NM_001232.4(CASQ2):c.546del (p.Phe182fs)	rs763955301
NM_001232.4(CASQ2):c.582del (p.Lys194fs)
NM_001232.4(CASQ2):c.591del (p.Thr198fs)
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)	rs1647617368
NM_001232.4(CASQ2):c.737+1G>A
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs)
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)	rs1471576368
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro)	rs377691566
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.939+5G>C	rs746128346
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	rs397507556
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter)	rs767023791
NM_006073.4(TRDN):c.22+1G>T	rs1290195833
NM_006073.4(TRDN):c.232+2T>A	rs1554258777
NM_006073.4(TRDN):c.232+2T>C
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
NM_006073.4(TRDN):c.326del (p.Leu109fs)
NM_006073.4(TRDN):c.334del (p.Asp112fs)
NM_006073.4(TRDN):c.423del (p.Glu142fs)	rs757805966
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)	rs752256846
NM_006073.4(TRDN):c.439_440del (p.Lys147fs)	rs2114339116
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
NM_006073.4(TRDN):c.483del (p.Val162fs)
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)	rs545032318
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
NM_006073.4(TRDN):c.531del (p.Glu178fs)	rs1432170970
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
NM_006073.4(TRDN):c.53_56del (p.Asp18fs)	rs768049331
NM_006073.4(TRDN):c.568dup (p.Ile190fs)	rs1085307100
NM_006073.4(TRDN):c.573dup (p.Lys192fs)	rs1554251609
NM_006073.4(TRDN):c.587dup (p.Glu197fs)
NM_006073.4(TRDN):c.618del (p.Ala208fs)	rs1060502114
NM_006073.4(TRDN):c.91del (p.Val31fs)	rs2114537918
NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr)
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	rs267607277
NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)	rs1595102640
NM_006888.6(CALM1):c.395A>G (p.Asp132Gly)	rs1887113791
NM_006888.6(CALM1):c.395A>T (p.Asp132Val)	rs1887113791
NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)	rs1085307479
NM_006888.6(CALM1):c.426C>A (p.Phe142Leu)	rs199744595

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