List of variants reported as uncertain significance for cardiomyopathy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)	rs150140386	0.00280
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	rs148584617	0.00244
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)	rs139872140	0.00207
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)	rs117502839	0.00143
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)	rs61735272	0.00126
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)	rs150149784	0.00124
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)	rs139306043	0.00074
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00056
NM_001005242.3(PKP2):c.1379-2109G>A	rs139159464	0.00050
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)	rs148176616	0.00048
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)	rs199601548	0.00041
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00039
NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu)	rs148547083	0.00038
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)	rs371951525	0.00036
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)	rs377623370	0.00029
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)	rs540292629	0.00026
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)	rs144651139	0.00026
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)	rs116214830	0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)	rs201148126	0.00025
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)	rs144857480	0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His)	rs150868652	0.00023
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)	rs149542398	0.00022
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)	rs146762316	0.00019
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)	rs138962748	0.00016
NM_001105206.3(LAMA4):c.1541G>A (p.Arg514Gln)	rs146358872	0.00014
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln)	rs143785916	0.00011
NM_000232.5(SGCB):c.152G>A (p.Arg51His)	rs143751283	0.00010
NM_000152.5(GAA):c.1630G>A (p.Val544Met)	rs567695610	0.00009
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)	rs561495878	0.00009
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)	rs369713466	0.00008
NM_000152.5(GAA):c.1194+3G>C	rs368539333	0.00008
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)	rs201329880	0.00008
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)	rs775537775	0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	rs147366714	0.00006
NM_001134363.3(RBM20):c.3574-7T>G	rs397516616	0.00006
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp)	rs201202701	0.00006
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)	rs140111079	0.00006
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)	rs374729641	0.00005
NM_000231.3(SGCG):c.824C>T (p.Ser275Phe)	rs780747031	0.00005
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	rs771025937	0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)	rs371314838	0.00004
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	rs113994169	0.00003
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)	rs199830512	0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)	rs536611911	0.00003
NM_000232.5(SGCB):c.850C>T (p.Arg284Cys)	rs545065102	0.00002
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu)	rs730880123	0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)	rs139401491	0.00002
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	rs398123079	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)	rs370282954	0.00001
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp)	rs192904909	0.00001
NM_000018.4(ACADVL):c.1913C>T (p.Ser638Phe)	rs1210477732	0.00001
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)	rs775400380	0.00001
NM_000018.4(ACADVL):c.728T>A (p.Leu243His)	rs772999007	0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)	rs749159573	0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)	rs756069599	0.00001
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)	rs398123095	0.00001
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)	rs191040430	0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	rs104893750	0.00001
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)	rs766775778	0.00001
NM_001105206.3(LAMA4):c.4111A>C (p.Ile1371Leu)	rs974775253	0.00001
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr)	rs727505379	0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)	rs757240576	0.00001
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn)	rs1431769044
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)	rs1064793382
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	rs754325237
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser)	rs755432945
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)	rs2071355499
NM_000018.4(ACADVL):c.1538C>G (p.Ala513Gly)	rs766003820
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)	rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)	rs781613690
NM_000018.4(ACADVL):c.1678+3_1678+6del	rs759135941
NM_000018.4(ACADVL):c.1870G>C (p.Asp624His)	rs1597541044
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)	rs1555529186
NM_000018.4(ACADVL):c.1964T>C (p.Phe655Ser)	rs377659973
NM_000018.4(ACADVL):c.277G>T (p.Val93Leu)	rs768632138
NM_000018.4(ACADVL):c.351C>G (p.Asn117Lys)	rs779745734
NM_000018.4(ACADVL):c.358_360del (p.Ala120del)	rs761449573
NM_000018.4(ACADVL):c.406C>G (p.Leu136Val)	rs1460246415
NM_000018.4(ACADVL):c.493G>A (p.Glu165Lys)	rs2071226145
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)	rs796051920
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)	rs398123090
NM_000018.4(ACADVL):c.614T>C (p.Leu205Pro)	rs1597525633
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	rs768975918
NM_000018.4(ACADVL):c.747G>C (p.Trp249Cys)	rs141167669
NM_000018.4(ACADVL):c.770A>T (p.Asp257Val)	rs2071264623
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser)	rs1597528061
NM_000018.4(ACADVL):c.949G>A (p.Val317Met)	rs1567565417
NM_000152.5(GAA):c.1649G>T (p.Gly550Val)	rs2039246464
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)	rs397517016
NM_001005242.3(PKP2):c.2048A>G (p.Lys683Arg)	rs1478626016
NM_001005242.3(PKP2):c.2369A>G (p.Asn790Ser)
NM_001105206.3(LAMA4):c.3708A>T (p.Arg1236Ser)	rs2114656750
NM_001105206.3(LAMA4):c.5135G>C (p.Gly1712Ala)	rs1777911531
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr)	rs876657976
NM_001134363.3(RBM20):c.318_327delinsG (p.Gln107_Ala109del)	rs1554898774
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro)	rs727505389
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn)	rs727505383
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
NM_020778.5(ALPK3):c.1126C>T (p.Arg376Trp)
NM_020778.5(ALPK3):c.3581G>A (p.Arg1194Gln)	rs543260061
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
NM_033118.4(MYLK2):c.1066G>A (p.Val356Ile)
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)

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