List of variants reported as likely pathogenic for Catecholaminergic polymorphic ventricular tachycardia 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 103

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys)	rs1321283106	0.00004
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)	rs762153545	0.00003
NM_001232.4(CASQ2):c.234+2T>C	rs757789935	0.00002
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)	rs748937501	0.00001
NM_001232.4(CASQ2):c.839-2A>G	rs1338756025	0.00001
NM_001232.4(CASQ2):c.939+1G>T	rs905985075	0.00001
NC_000001.10:g.(?_237205822)_(237519305_?)dup
NC_000001.10:g.(?_237433777)_(237433936_?)dup
NC_000006.11:g.(?_123836792)_(123837316_?)del
NM_001035.3(RYR2):c.1070G>A (p.Gly357Asp)
NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)	rs1060500150
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile)	rs397516502
NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg)	rs2149266454
NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del)	rs1693267402
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)	rs397516504
NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg)	rs397516504
NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly)	rs2149277178
NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp)	rs1573887621
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)	rs1060500137
NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala)	rs1558381851
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp)	rs374306538
NM_001035.3(RYR2):c.11812A>C (p.Ser3938Arg)	rs794728825
NM_001035.3(RYR2):c.11836G>C (p.Gly3946Arg)	rs794728777
NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu)	rs1558393802
NM_001035.3(RYR2):c.11865G>C (p.Gln3955His)	rs1573911593
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)	rs1085307997
NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp)	rs794728779
NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly)
NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala)
NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser)	rs794728782
NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly)
NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe)	rs1695349832
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)	rs1060500135
NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu)
NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val)	rs1558405816
NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr)	rs1573935244
NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile)	rs2149354389
NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)	rs765238394
NM_001035.3(RYR2):c.13529C>T (p.Ala4510Val)	rs1658373672
NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser)	rs1558424746
NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile)
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)	rs794728799
NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn)	rs1060500169
NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu)
NM_001035.3(RYR2):c.14226C>A (p.His4742Gln)	rs2149437622
NM_001035.3(RYR2):c.14233G>A (p.Asp4745Asn)	rs1660618055
NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly)	rs2149437640
NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met)	rs2149437719
NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe)
NM_001035.3(RYR2):c.14368C>T (p.Arg4790Ter)	rs1660964820
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)	rs1402571360
NM_001035.3(RYR2):c.14542A>G (p.Ile4848Val)	rs1363298408
NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)	rs1553339084
NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro)	rs1663402590
NM_001035.3(RYR2):c.14683A>C (p.Asn4895His)	rs1185619003
NM_001035.3(RYR2):c.14807A>G (p.Gln4936Arg)
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)	rs794728810
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)	rs730880187
NM_001035.3(RYR2):c.41T>C (p.Leu14Pro)	rs886043844
NM_001035.3(RYR2):c.44G>C (p.Arg15Pro)	rs865784613
NM_001035.3(RYR2):c.537T>A (p.Asp179Glu)	rs1362710187
NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)	rs1553531703
NM_001035.3(RYR2):c.6585C>G (p.Asn2195Lys)	rs2148700748
NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly)	rs1328318082
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr)	rs1372052481
NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro)	rs1680574380
NM_001035.3(RYR2):c.677G>A (p.Gly226Glu)	rs1702087452
NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys)
NM_001035.3(RYR2):c.6898G>C (p.Asp2300His)
NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe)
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)	rs727503401
NM_001035.3(RYR2):c.7009G>A (p.Gly2337Arg)	rs1553263875
NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)	rs1553263875
NM_001035.3(RYR2):c.7010G>A (p.Gly2337Glu)
NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu)	rs794728756
NM_001035.3(RYR2):c.7210C>T (p.Pro2404Ser)
NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr)
NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser)	rs1573300872
NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly)
NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala)	rs1682400034
NM_001035.3(RYR2):c.854G>T (p.Ser285Ile)	rs1342435908
NM_001232.4(CASQ2):c.235-2A>G	rs1060502164
NM_001232.4(CASQ2):c.319+1G>C	rs1459829853
NM_001232.4(CASQ2):c.319+2T>G
NM_001232.4(CASQ2):c.420+1G>A
NM_001232.4(CASQ2):c.606+1G>C	rs786205791
NM_001232.4(CASQ2):c.607-11_607-2del
NM_001232.4(CASQ2):c.784-1G>A
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)	rs139228801
NM_001232.4(CASQ2):c.939+1G>A
NM_001232.4(CASQ2):c.940-1G>T	rs876657635
NM_006073.4(TRDN):c.1136-2A>G
NM_006073.4(TRDN):c.1370-2A>G
NM_006073.4(TRDN):c.1471+1G>A
NM_006073.4(TRDN):c.1624+1G>A
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro)	rs1060502116
NM_006073.4(TRDN):c.19_22+8del
NM_006073.4(TRDN):c.23-2A>G
NM_006073.4(TRDN):c.391+1G>A	rs2114436209
NM_006073.4(TRDN):c.485-2A>T
NM_006073.4(TRDN):c.550+1_550+2insA
NM_006073.4(TRDN):c.611-1G>A
NM_006073.4(TRDN):c.991+1G>A

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