ClinVar Miner

List of variants in gene SPAST reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1121C>T (p.Pro374Leu) rs1471030618 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_014946.4(SPAST):c.421C>T (p.Gln141Ter) rs1485703744 0.00001
NC_000002.11:g.(?_32288891)_(32341291_?)del
NC_000002.11:g.(?_32288901)_(32323980_?)del
NC_000002.11:g.(?_32288901)_(32341301_?)del
NC_000002.11:g.(?_32288901)_(32379565_?)del
NC_000002.11:g.(?_32312541)_(32341301_?)del
NC_000002.11:g.(?_32314571)_(32314694_?)del
NC_000002.11:g.(?_32314571)_(32341301_?)del
NC_000002.11:g.(?_32339687)_(32339914_?)del
NC_000002.11:g.(?_32339687)_(32341301_?)del
NC_000002.11:g.(?_32339687)_(32379565_?)del
NC_000002.11:g.(?_32339697)_(32379575_?)del
NC_000002.11:g.(?_32351997)_(32362277_?)del
NC_000002.11:g.(?_32351997)_(32379565_?)del
NC_000002.11:g.(?_32353457)_(32353568_?)dup
NC_000002.11:g.(?_32358030)_(32362241_?)del
NC_000002.11:g.(?_32361622)_(32379575_?)del
NC_000002.11:g.(?_32366953)_(32370096_?)del
NC_000002.11:g.(?_32366967)_(32372333_?)del
NC_000002.11:g.(?_32368385)_(32368504_?)del
NC_000002.11:g.(?_32368385)_(32370096_?)del
NC_000002.11:g.(?_32370032)_(32371757_?)del
NC_000002.11:g.(?_32372267)_(32372347_?)del
NC_000002.11:g.(?_32379423)_(32379565_?)del
NC_000002.12:g.(?_32063611)_(32064246_?)del
NC_000002.12:g.(?_32063812)_(32064266_?)del
NC_000002.12:g.(?_32063822)_(32064256_?)del
NC_000002.12:g.(?_32063822)_(32089615_?)del
NC_000002.12:g.(?_32063822)_(32154506_?)del
NC_000002.12:g.(?_32063826)_(32098897_?)del
NC_000002.12:g.(?_32087482)_(32116222_?)del
NC_000002.12:g.(?_32098786)_(32116222_?)del
NC_000002.12:g.(?_32114618)_(32128499_?)del
NC_000002.12:g.(?_32114618)_(32147278_?)del
NC_000002.12:g.(?_32114628)_(32114835_?)del
NC_000002.12:g.(?_32114638)_(32157637_?)del
NC_000002.12:g.(?_32126928)_(32128499_?)del
NC_000002.12:g.(?_32126938)_(32128489_?)del
NC_000002.12:g.(?_32126938)_(32154506_?)del
NC_000002.12:g.(?_32136543)_(32137208_?)del
NC_000002.12:g.(?_32136543)_(32147278_?)del
NC_000002.12:g.(?_32136553)_(32136648_?)del
NC_000002.12:g.(?_32136553)_(32137198_?)del
NC_000002.12:g.(?_32143325)_(32147268_?)del
NC_000002.12:g.(?_32144927)_(32154506_?)del
NC_000002.12:g.(?_32147208)_(32147268_?)dup
NC_000002.12:g.(?_32154364)_(32154506_?)del
NC_000002.12:g.32141904del rs2148758232
NC_000002.12:g.32154379_32154380insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAATCTAGATGAGA
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
NM_014946.3(SPAST):c.1494-?_1728+?del
NM_014946.4(SPAST):c.1004+1G>C rs1553315236
NM_014946.4(SPAST):c.1004+2T>G rs1553315240
NM_014946.4(SPAST):c.1005-1G>A rs1553315318
NM_014946.4(SPAST):c.1005-1G>T rs1553315318
NM_014946.4(SPAST):c.1011_1012dup (p.Ala338fs) rs2148734474
NM_014946.4(SPAST):c.1018_1022del (p.Val339_Lys340insTer) rs1553315321
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter) rs1553315329
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro) rs1678825469
NM_014946.4(SPAST):c.1066G>T (p.Glu356Ter)
NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly) rs1553315345
NM_014946.4(SPAST):c.1069del (p.Ile357fs) rs2148734579
NM_014946.4(SPAST):c.1071del (p.Ile357fs) rs2148734583
NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser) rs1553315350
NM_014946.4(SPAST):c.1096G>T (p.Glu366Ter)
NM_014946.4(SPAST):c.1098+1G>A rs1377020559
NM_014946.4(SPAST):c.1099-1G>C
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser) rs1425976342
NM_014946.4(SPAST):c.1118del (p.Ala373fs) rs2148744935
NM_014946.4(SPAST):c.1139_1160del (p.Leu380fs) rs2148744982
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg) rs1573139616
NM_014946.4(SPAST):c.1151C>T (p.Pro384Leu) rs1573139616
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser) rs121908514
NM_014946.4(SPAST):c.1163A>G (p.Lys388Arg) rs1553316837
NM_014946.4(SPAST):c.1164G>C (p.Lys388Asn) rs1553316838
NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala) rs786204132
NM_014946.4(SPAST):c.1166C>T (p.Thr389Ile)
NM_014946.4(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.4(SPAST):c.1170G>A (p.Met390Ile) rs1131691971
NM_014946.4(SPAST):c.1173+185_1245del
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1174-1G>A rs1553317024
NM_014946.4(SPAST):c.1174-1G>C rs1553317024
NM_014946.4(SPAST):c.1180del (p.Ala394fs) rs1679263902
NM_014946.4(SPAST):c.1196C>G (p.Ser399Trp) rs1553317025
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1199del (p.Asn400fs)
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs) rs1553317032
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1226C>A (p.Ala409Glu) rs2148746390
NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter) rs1553317045
NM_014946.4(SPAST):c.1238C>T (p.Ser413Leu) rs1553317045
NM_014946.4(SPAST):c.1245+1G>C
NM_014946.4(SPAST):c.1245+4A>G rs587777755
NM_014946.4(SPAST):c.1245+5G>A rs1553317049
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_014946.4(SPAST):c.1245del (p.Lys414_Tyr415insTer) rs863224513
NM_014946.4(SPAST):c.1250G>T (p.Gly417Val) rs1553318161
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys) rs1553318164
NM_014946.4(SPAST):c.1252G>T (p.Glu418Ter) rs1553318164
NM_014946.4(SPAST):c.1253_1255del (p.Glu418del) rs1558336544
NM_014946.4(SPAST):c.1258G>C (p.Glu420Gln) rs1558336551
NM_014946.4(SPAST):c.1273G>C (p.Ala425Pro)
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.4(SPAST):c.127G>T (p.Glu43Ter) rs573642949
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1291del (p.Arg431fs)
NM_014946.4(SPAST):c.1300C>T (p.Gln434Ter)
NM_014946.4(SPAST):c.1304C>T (p.Pro435Leu) rs1553318182
NM_014946.4(SPAST):c.1322-1G>T rs1365753930
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.4(SPAST):c.1339_1340del (p.Leu447fs) rs1679553611
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr) rs121908510
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_014946.4(SPAST):c.1350_1351del (p.Glu452fs) rs2148753972
NM_014946.4(SPAST):c.1359_1360dup (p.Glu454fs) rs1384312757
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys) rs1553318230
NM_014946.4(SPAST):c.1361dup (p.His455fs) rs1573156283
NM_014946.4(SPAST):c.1363C>T (p.His455Tyr)
NM_014946.4(SPAST):c.1368dup (p.Ala457fs) rs1573156341
NM_014946.4(SPAST):c.1375del (p.Arg459fs) rs2148754018
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1379G>T (p.Arg460Leu)
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter) rs1679556566
NM_014946.4(SPAST):c.1392del (p.Glu464fs) rs1558336906
NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp) rs1553318274
NM_014946.4(SPAST):c.1413+1G>A rs1553318276
NM_014946.4(SPAST):c.1414-1G>C rs786204163
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter) rs757130394
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs) rs864622268
NM_014946.4(SPAST):c.1442_1443insA (p.Val482fs) rs1553318313
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.4(SPAST):c.1458_1459dup (p.Asn487fs) rs1558337136
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter) rs1553318336
NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr) rs1060502228
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.1493+1G>A rs1553318351
NM_014946.4(SPAST):c.1493+1G>T rs1553318351
NM_014946.4(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.4(SPAST):c.1494-1G>C rs1315245986
NM_014946.4(SPAST):c.1494-2A>C rs1218081251
NM_014946.4(SPAST):c.1494-2A>G rs1218081251
NM_014946.4(SPAST):c.1494-2A>T rs1218081251
NM_014946.4(SPAST):c.1494G>C (p.Arg498Ser) rs1553319075
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1506del (p.Lys502fs) rs2148758252
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.4(SPAST):c.1514_1515del (p.Tyr505fs) rs1679732948
NM_014946.4(SPAST):c.1536+1G>A
NM_014946.4(SPAST):c.1536+2T>C
NM_014946.4(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.4(SPAST):c.1537-1G>A rs1553319280
NM_014946.4(SPAST):c.1537-2A>C
NM_014946.4(SPAST):c.1537-2A>T
NM_014946.4(SPAST):c.1539_1540del (p.Arg514fs) rs2148759370
NM_014946.4(SPAST):c.153C>G (p.Tyr51Ter) rs1462628095
NM_014946.4(SPAST):c.1550del (p.Leu517fs)
NM_014946.4(SPAST):c.1563del (p.Leu522fs)
NM_014946.4(SPAST):c.156T>G (p.Tyr52Ter) rs1553394497
NM_014946.4(SPAST):c.1573C>T (p.Gln525Ter) rs1553319296
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs) rs1553319298
NM_014946.4(SPAST):c.1583del (p.Pro528fs) rs1573167562
NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter) rs2148759447
NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro) rs1553319317
NM_014946.4(SPAST):c.1601del (p.Leu534fs) rs1553319318
NM_014946.4(SPAST):c.1614dup (p.Arg539Ter)
NM_014946.4(SPAST):c.1616+1G>A rs1553319327
NM_014946.4(SPAST):c.1616+1G>C rs1553319327
NM_014946.4(SPAST):c.1617-1G>A rs1553319526
NM_014946.4(SPAST):c.1617-1G>T
NM_014946.4(SPAST):c.1617-2A>G rs1553319524
NM_014946.4(SPAST):c.1632C>A (p.Tyr544Ter)
NM_014946.4(SPAST):c.1636G>C (p.Gly546Arg) rs2148760843
NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu) rs786204057
NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter) rs368951498
NM_014946.4(SPAST):c.1664A>G (p.Asp555Gly)
NM_014946.4(SPAST):c.1666G>C (p.Ala556Pro) rs1558341948
NM_014946.4(SPAST):c.166_175del (p.Tyr55_Pro56insTer) rs1553394509
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg) rs878854992
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.167dup (p.Leu57fs)
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly) rs121908518
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1688-1G>A rs1573174147
NM_014946.4(SPAST):c.1688-2A>G rs587777752
NM_014946.4(SPAST):c.16G>T (p.Gly6Ter)
NM_014946.4(SPAST):c.1701dup (p.Gln568fs) rs2148762787
NM_014946.4(SPAST):c.1723del (p.Ser575fs)
NM_014946.4(SPAST):c.1728+1G>A rs587777754
NM_014946.4(SPAST):c.1728+1G>T rs587777754
NM_014946.4(SPAST):c.1728+2T>G rs1553319874
NM_014946.4(SPAST):c.1729-1G>A rs1064793976
NM_014946.4(SPAST):c.1729-2A>G rs1553321194
NM_014946.4(SPAST):c.1740del (p.Arg581fs) rs1680184249
NM_014946.4(SPAST):c.1762_1785del (p.Ser588_Ser595del)
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer) rs1680185365
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.4(SPAST):c.1815_1816insGA (p.Arg606fs)
NM_014946.4(SPAST):c.1840dup (p.Thr614fs)
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.4(SPAST):c.1849T>C (p.Ter617Gln)
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu) rs1553321270
NM_014946.4(SPAST):c.207_222dup (p.Phe75fs)
NM_014946.4(SPAST):c.212del (p.Leu71fs) rs2148685545
NM_014946.4(SPAST):c.217del (p.Leu73fs)
NM_014946.4(SPAST):c.237C>A (p.Cys79Ter)
NM_014946.4(SPAST):c.259_260del (p.Met87fs) rs2148685612
NM_014946.4(SPAST):c.286del (p.Ala96fs) rs1573028017
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter) rs746263735
NM_014946.4(SPAST):c.328_340del (p.Gly110fs) rs1410418105
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter) rs1553394608
NM_014946.4(SPAST):c.344_353dup (p.Phe119fs) rs1558606204
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter) rs1553394620
NM_014946.4(SPAST):c.369dup (p.Phe124fs)
NM_014946.4(SPAST):c.390_391delinsGGT (p.Leu131fs) rs1060502230
NM_014946.4(SPAST):c.410del (p.Glu137fs) rs1060502229
NM_014946.4(SPAST):c.411_412dup (p.Lys138fs)
NM_014946.4(SPAST):c.415+1G>A rs1057521135
NM_014946.4(SPAST):c.415+1G>C
NM_014946.4(SPAST):c.415+1G>T rs1057521135
NM_014946.4(SPAST):c.422_425del (p.Gln141fs) rs1553399472
NM_014946.4(SPAST):c.430C>T (p.Gln144Ter) rs1553399476
NM_014946.4(SPAST):c.443G>A (p.Trp148Ter) rs1573068995
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter) rs1553399493
NM_014946.4(SPAST):c.465del (p.Glu155fs) rs863224514
NM_014946.4(SPAST):c.469G>T (p.Glu157Ter)
NM_014946.4(SPAST):c.494del (p.Thr165fs) rs2148708949
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.4(SPAST):c.514G>T (p.Glu172Ter) rs2148710558
NM_014946.4(SPAST):c.521del (p.Ala174fs) rs1677627829
NM_014946.4(SPAST):c.562del (p.Ala188fs) rs1553400002
NM_014946.4(SPAST):c.577C>T (p.Gln193Ter) rs1553400013
NM_014946.4(SPAST):c.580del (p.Leu194fs) rs2148710617
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer) rs1678753568
NM_014946.4(SPAST):c.698del (p.Pro233fs) rs1573118105
NM_014946.4(SPAST):c.6_7del (p.Pro4fs) rs1553394366
NM_014946.4(SPAST):c.724_725del (p.His241_Thr242insTer) rs1558323426
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter) rs1553314902
NM_014946.4(SPAST):c.746dup (p.Thr251fs) rs2148732927
NM_014946.4(SPAST):c.751dup (p.Thr251fs)
NM_014946.4(SPAST):c.757dup (p.Met253fs) rs2148732951
NM_014946.4(SPAST):c.763dup (p.Thr255fs)
NM_014946.4(SPAST):c.782C>A (p.Ser261Ter) rs768241184
NM_014946.4(SPAST):c.782C>G (p.Ser261Ter)
NM_014946.4(SPAST):c.803_806dup (p.Tyr269Ter)
NM_014946.4(SPAST):c.811_817del (p.Gly271fs)
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter) rs1553314948
NM_014946.4(SPAST):c.839_840del (p.Gln280fs) rs1678762730
NM_014946.4(SPAST):c.857del (p.Pro286fs)
NM_014946.4(SPAST):c.867_868del (p.His289fs) rs1558323659
NM_014946.4(SPAST):c.870+1G>A rs1553314978
NM_014946.4(SPAST):c.870+1G>T rs1553314978
NM_014946.4(SPAST):c.870+2T>C
NM_014946.4(SPAST):c.870G>A (p.Lys290=) rs1421791559
NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)
NM_014946.4(SPAST):c.883dup (p.Thr295fs) rs1553315181
NM_014946.4(SPAST):c.899_900insTT (p.Lys300fs) rs1678803263
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs) rs2148734025
NM_014946.4(SPAST):c.923_927del (p.Thr308fs) rs1678805683
NM_014946.4(SPAST):c.924dup (p.Arg309fs) rs1678805865
NM_014946.4(SPAST):c.925del (p.Arg309fs) rs863224515
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter) rs1678806430
NM_014946.4(SPAST):c.936dup (p.Asp313fs) rs2148734097
NM_014946.4(SPAST):c.939_943del (p.Asp313fs)
NM_014946.4(SPAST):c.93dup (p.Ala32fs) rs1676391139
NM_014946.4(SPAST):c.942dup (p.Lys315fs)
NM_014946.4(SPAST):c.956dup (p.Asn319fs)
NM_014946.4(SPAST):c.966del (p.Ser322fs)
NM_014946.4(SPAST):c.970del (p.Ala325fs) rs1678809494
NM_014946.4(SPAST):c.975dup (p.Asn326Ter) rs1678809927
NM_014946.4(SPAST):c.977dup (p.Asn326fs) rs1678810039

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