List of variants reported as pathogenic for cardiomyopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	rs113994167	0.00116
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	rs1064651	0.00020
NM_000152.5(GAA):c.525del (p.Glu176fs)	rs386834235	0.00019
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	rs119458970	0.00008
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)	rs796051964	0.00007
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	rs75822236	0.00006
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	rs769976586	0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)	rs781088002	0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	rs78973108	0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)	rs749465164	0.00004
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	rs113994169	0.00003
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)	rs774263134	0.00002
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	rs121913627	0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	rs104894724	0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys)	rs727504243	0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)	rs397516986	0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	rs190140598	0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	rs397516463	0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	rs387906875	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)	rs121908987	0.00001
NC_012920.1:m.11778G>A	rs199476112
NM_000018.4(ACADVL):c.552C>A (p.Ile184=)	rs770961747
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	rs2148211636
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	rs730880352
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)	rs727504310
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)	rs104894724
NM_001005242.3(PKP2):c.152_153del (p.Val51fs)	rs1957127435
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	rs397517021
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)	rs786204388
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter)	rs532048791
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)	rs199476306
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)	rs397516373
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)	rs199476315
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	rs1401116572
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)	rs1553328170
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys)	rs2149437479
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)	rs794728804
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)	rs1085307524
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)	rs397516539
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)	rs794728754
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg)	rs1576387885
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)	rs397516607
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)	rs1569530588
NM_001276345.2(TNNT2):c.310C>A (p.Arg104Ser)
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	rs45578238
NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter)	rs2140853464
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter)	rs1420159591
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter)	rs1342121466
NM_001943.5(DSG2):c.871dup (p.Thr291fs)	rs759944835
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)	rs730880965
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	rs397516784
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys)	rs1553311527
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	rs121918468
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	rs397507540
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	rs397507542
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)	rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	rs397507549
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	rs121918470
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	rs397507505
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	rs397507509
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	rs121434594
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	rs180177038
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val)	rs2131279852
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	rs193929331
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)	rs121917758
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys)	rs121917756
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)	rs104894230
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)	rs397517153
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	rs397517154
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)	rs397517180
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	rs672601335
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)	rs1557962794
NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp)	rs1591495779
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)	rs121908991
NM_020778.5(ALPK3):c.2237del (p.Gly746fs)	rs1596155145
NM_020778.5(ALPK3):c.3381del (p.Ser1129fs)	rs2141569005
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)	rs104894359
NM_152594.3(SPRED1):c.475del (p.Gln159fs)	rs2141007796
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)

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