ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis by Invitae

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter) rs1449250083 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe) rs1482760341 0.00002
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314 0.00002
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln) rs758357594 0.00002
NM_000344.4(SMN1):c.835-3C>T rs772466166 0.00001
NM_000454.5(SOD1):c.269C>T (p.Ala90Val) rs1280042397 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000454.5(SOD1):c.358-10T>G rs1197141604 0.00001
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr) rs1424014997 0.00001
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NM_003900.5(SQSTM1):c.1165+1G>A rs796051870 0.00001
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln) rs1391182750 0.00001
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val) rs771966860 0.00001
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter) rs886039782 0.00001
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter) rs1185406298 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys) rs80356732 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter) rs1328949478 0.00001
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter) rs142030898 0.00001
NM_013254.4(TBK1):c.421dup (p.Ile141fs) rs1565814492 0.00001
NM_013254.4(TBK1):c.992+1G>A rs1341055534 0.00001
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NC_000005.10:g.(?_70951912)_(70951994_?)del
NC_000005.10:g.(?_70951921)_(70952011_?)del
NC_000005.10:g.(?_70951931)_(70952001_?)del
NC_000005.10:g.(?_70951941)_(70951991_?)del
NC_000009.11:g.(?_135201691)_(135210134_?)del
NC_000010.10:g.(?_12833157)_(13178866_?)del
NC_000010.10:g.(?_13151123)_(13158360_?)del
NC_000010.10:g.(?_13151123)_(13178866_?)del
NC_000010.10:g.(?_13152254)_(13161060_?)del
NC_000010.10:g.(?_13154433)_(13161060_?)del
NC_000010.10:g.(?_13158247)_(13158360_?)del
NC_000010.10:g.(?_13164365)_(13168059_?)del
NC_000010.11:g.(?_13109103)_(13136886_?)del
NC_000010.11:g.(?_13109113)_(13112645_?)del
NC_000010.11:g.(?_13109123)_(13183100_?)del
NC_000010.11:g.(?_13116257)_(13116350_?)del
NC_000010.11:g.13122383AG[1] rs757559365
NC_000012.11:g.(?_64849651)_(64854129_?)del
NC_000012.11:g.(?_64875602)_(64879817_?)del
NM_000344.4(SMN1):c.835-21_*3+17del rs1561503058
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg)
NM_000344.4(SMN1):c.862dup (p.Arg288fs) rs1580895068
NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp) rs121912434
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser) rs121912444
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
NM_000454.5(SOD1):c.19T>A (p.Cys7Ser) rs1312702973
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr) rs1601157750
NM_000454.5(SOD1):c.230A>T (p.Asp77Val) rs1568810316
NM_000454.5(SOD1):c.242A>G (p.His81Arg) rs121912458
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) rs1315541036
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys) rs121912437
NM_000454.5(SOD1):c.281G>A (p.Gly94Asp) rs121912438
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala) rs121912438
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys) rs76731700
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)
NM_000454.5(SOD1):c.304G>C (p.Asp102His) rs1568810715
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) rs1378590183
NM_000454.5(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000454.5(SOD1):c.319C>T (p.Leu107Phe) rs121912440
NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr)
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) rs74315452
NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) rs1301635320
NM_000454.5(SOD1):c.352C>G (p.Leu118Val) rs199474723
NM_000454.5(SOD1):c.374A>G (p.Asp125Gly) rs1568811366
NM_000454.5(SOD1):c.374A>T (p.Asp125Val) rs1568811366
NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)
NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys) rs1804449
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp) rs1555836950
NM_000454.5(SOD1):c.446T>G (p.Val149Gly) rs1476760624
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000454.5(SOD1):c.62T>G (p.Phe21Cys) rs1555836169
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu) rs1169198442
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs) rs774772178
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) rs1588449569
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) rs1564354968
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
NM_001008212.2(OPTN):c.666del (p.Lys223fs)
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs) rs778911925
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter) rs765610848
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs) rs1758558921
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter) rs1254158201
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr) rs1247551175
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter) rs1425863340
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
NM_003900.5(SQSTM1):c.301+1G>T rs2113485289
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
NM_003900.5(SQSTM1):c.415del (p.Arg139fs) rs2113487920
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs) rs1331685476
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
NM_003900.5(SQSTM1):c.810del (p.Val271fs) rs1758316662
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs) rs1273214757
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser) rs121909342
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg) rs121909342
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.5(DCTN1):c.279+1G>A rs1393363759
NM_004082.5(DCTN1):c.279+1G>C rs1393363759
NM_004082.5(DCTN1):c.279+1G>T rs1393363759
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_004960.4(FUS):c.1391_1392dup (p.Gly465fs) rs2144138894
NM_004960.4(FUS):c.1394-2del rs1555509569
NM_004960.4(FUS):c.1449_1488del (p.Tyr484fs)
NM_004960.4(FUS):c.1500dup (p.Gly501fs) rs2144140268
NM_004960.4(FUS):c.1509_1510del (p.Gly504fs) rs1596912983
NM_004960.4(FUS):c.1509_1510dup (p.Gly504fs) rs1596912983
NM_004960.4(FUS):c.1531dup (p.Met511fs)
NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)
NM_004960.4(FUS):c.1541+1G>A rs2079351113
NM_004960.4(FUS):c.1554_1557del (p.Gln519fs) rs2144142389
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1562G>A (p.Arg521His) rs121909671
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu) rs121909671
NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004960.4(FUS):c.253C>T (p.Gln85Ter)
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)
NM_005866.4(SIGMAR1):c.13del (p.Val5fs) rs1564096761
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs) rs1820936580
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs) rs747285235
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) rs780136067
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) rs387906829
NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)
NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)
NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter) rs1242817438
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) rs863225291
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) rs1554669087
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) rs864309502
NM_007126.5(VCP):c.463C>A (p.Arg155Ser) rs121909330
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.464G>C (p.Arg155Pro) rs121909329
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)
NM_007126.5(VCP):c.469G>A (p.Gly157Arg) rs1554668814
NM_007126.5(VCP):c.472A>G (p.Met158Val) rs1554668813
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007126.5(VCP):c.572G>C (p.Arg191Pro) rs121909334
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg) rs80356723
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter) rs765106259
NM_013254.4(TBK1):c.1234del (p.Ala412fs)
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer) rs2040816609
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter) rs2136079548
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs) rs876657404
NM_013254.4(TBK1):c.1382dup (p.Thr462fs) rs1178717934
NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs)
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)
NM_013254.4(TBK1):c.1638_1641del (p.Asp546fs)
NM_013254.4(TBK1):c.1740del (p.Glu580fs) rs2136087722
NM_013254.4(TBK1):c.1770_1771del (p.Tyr591fs) rs2040932099
NM_013254.4(TBK1):c.1846_1849del (p.Ser616fs) rs2136088227
NM_013254.4(TBK1):c.1917del (p.Asp639fs)
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter) rs2136088420
NM_013254.4(TBK1):c.1956del (p.Asn652fs)
NM_013254.4(TBK1):c.1972_1973del (p.Leu658fs) rs2136088934
NM_013254.4(TBK1):c.300_309del (p.Ser102fs)
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter) rs757203783
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)
NM_013254.4(TBK1):c.519del (p.Tyr174fs)
NM_013254.4(TBK1):c.701+1G>A rs1592362719
NM_013254.4(TBK1):c.701+2T>G
NM_013254.4(TBK1):c.722del (p.Lys241fs)
NM_013254.4(TBK1):c.72dup (p.Arg25fs) rs1279619378
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter) rs1284582102
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser) rs387906710
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His) rs387906709
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro) rs2131461009
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter) rs2131440608
NM_015046.7(SETX):c.387_388+2del
NM_015046.7(SETX):c.4679dup (p.Asn1560fs) rs746973259
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
NM_015046.7(SETX):c.5019del (p.Val1674fs)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter) rs1844047388
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu) rs2145927350

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