ClinVar Miner

List of variants in gene SPAST reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_32339687)_(32341301_?)dup
NC_000002.12:g.(?_32063611)_(32064246_?)del
NC_000002.12:g.(?_32063812)_(32064266_?)del
NC_000002.12:g.(?_32063812)_(32116232_?)del
NC_000002.12:g.(?_32063812)_(32154516_?)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)_(32087584_?)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.(?_32114628)_(32116222_?)dup
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
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
NM_014946.3(SPAST):c.1004+3_1004+6del rs1553315234
NM_014946.3(SPAST):c.1005-1G>A rs1553315318
NM_014946.3(SPAST):c.1018_1022del (p.Val339_Lys340insTer) rs1553315321
NM_014946.3(SPAST):c.1048G>A (p.Ala350Thr) rs1553315333
NM_014946.3(SPAST):c.1049C>T (p.Ala350Val) rs1060502231
NM_014946.3(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.3(SPAST):c.1107A>G (p.Thr369=) rs1573139443
NM_014946.3(SPAST):c.1115G>T (p.Arg372Ile) rs864622327
NM_014946.3(SPAST):c.1116A>C (p.Arg372Ser) rs1425976342
NM_014946.3(SPAST):c.1121C>T (p.Pro374Leu) rs1471030618
NM_014946.3(SPAST):c.1125C>T (p.Ala375=) rs62142114
NM_014946.3(SPAST):c.1139T>C (p.Leu380Pro) rs1553316819
NM_014946.3(SPAST):c.113C>G (p.Pro38Arg) rs1041662261
NM_014946.3(SPAST):c.1151C>T (p.Pro384Leu) rs1573139616
NM_014946.3(SPAST):c.1157A>G (p.Asn386Ser) rs121908514
NM_014946.3(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
NM_014946.3(SPAST):c.1165A>G (p.Thr389Ala) rs786204132
NM_014946.3(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.3(SPAST):c.1173+1G>A rs1060502226
NM_014946.3(SPAST):c.1174-1G>A rs1553317024
NM_014946.3(SPAST):c.1196C>G (p.Ser399Trp) rs1553317025
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1197G>A (p.Ser399=) rs1037572037
NM_014946.3(SPAST):c.1215_1219del (p.Asn405fs) rs1553317032
NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.3(SPAST):c.1217T>C (p.Ile406Thr) rs1553317038
NM_014946.3(SPAST):c.1220G>A (p.Ser407Asn) rs1573142616
NM_014946.3(SPAST):c.1223C>T (p.Ala408Val) rs1553317043
NM_014946.3(SPAST):c.1238C>T (p.Ser413Leu) rs1553317045
NM_014946.3(SPAST):c.1245+1G>A rs875989878
NM_014946.3(SPAST):c.1245+4A>G rs587777755
NM_014946.3(SPAST):c.1252G>A (p.Glu418Lys) rs1553318164
NM_014946.3(SPAST):c.1252G>T (p.Glu418Ter) rs1553318164
NM_014946.3(SPAST):c.1258G>C (p.Glu420Gln) rs1558336551
NM_014946.3(SPAST):c.1261A>G (p.Lys421Glu) rs1558336556
NM_014946.3(SPAST):c.126C>G (p.Pro42=) rs755151658
NM_014946.3(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.3(SPAST):c.127G>T (p.Glu43Ter) rs573642949
NM_014946.3(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.1321+8C>T rs1573155852
NM_014946.3(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.3(SPAST):c.1334G>A (p.Ser445Asn) rs1131691838
NM_014946.3(SPAST):c.1343G>A (p.Cys448Tyr) rs121908510
NM_014946.3(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) rs121908517
NM_014946.3(SPAST):c.1359_1360dup (p.Glu454fs) rs1384312757
NM_014946.3(SPAST):c.1360G>A (p.Glu454Lys) rs1553318230
NM_014946.3(SPAST):c.1361dup (p.His455fs) rs1573156283
NM_014946.3(SPAST):c.1362G>A (p.Glu454=) rs138849656
NM_014946.3(SPAST):c.1363C>G (p.His455Asp) rs863224769
NM_014946.3(SPAST):c.1368dup (p.Ala457fs) rs1573156341
NM_014946.3(SPAST):c.1374T>G (p.Ser458Arg) rs1036039694
NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.3(SPAST):c.1392del (p.Glu464fs) rs1558336906
NM_014946.3(SPAST):c.1398A>G (p.Leu466=) rs778593317
NM_014946.3(SPAST):c.1398_1413+1dup rs1558336927
NM_014946.3(SPAST):c.1412G>A (p.Gly471Asp) rs1553318274
NM_014946.3(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.3(SPAST):c.1413+5G>C rs1553318282
NM_014946.3(SPAST):c.1414-1G>C rs786204163
NM_014946.3(SPAST):c.1417C>T (p.Gln473Ter) rs757130394
NM_014946.3(SPAST):c.1432G>A (p.Asp478Asn) rs1191508807
NM_014946.3(SPAST):c.1442_1443insA (p.Val482fs) rs1553318313
NM_014946.3(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.3(SPAST):c.1451G>A (p.Gly484Asp) rs1558337098
NM_014946.3(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.3(SPAST):c.1457C>T (p.Thr486Ile) rs1558337122
NM_014946.3(SPAST):c.1458_1459dup (p.Asn487fs) rs1558337136
NM_014946.3(SPAST):c.1462A>T (p.Arg488Trp) rs1553318329
NM_014946.3(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.3(SPAST):c.1483G>A (p.Ala495Thr) rs1060502228
NM_014946.3(SPAST):c.1493+18G>T rs189961829
NM_014946.3(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.3(SPAST):c.1494-1G>C rs1315245986
NM_014946.3(SPAST):c.1494-2A>C rs1218081251
NM_014946.3(SPAST):c.1494-2A>G rs1218081251
NM_014946.3(SPAST):c.1494-3dup rs760322678
NM_014946.3(SPAST):c.1494-5T>G rs1553319072
NM_014946.3(SPAST):c.1494-?_1728+?del
NM_014946.3(SPAST):c.1494G>C (p.Arg498Ser) rs1553319075
NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.3(SPAST):c.1505A>C (p.Lys502Thr) rs1558339891
NM_014946.3(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.3(SPAST):c.1525C>A (p.Pro509Thr) rs1553319092
NM_014946.3(SPAST):c.1535_1536+1del rs1558339948
NM_014946.3(SPAST):c.1536+2dup rs1573165113
NM_014946.3(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.3(SPAST):c.1537-11A>G rs549538513
NM_014946.3(SPAST):c.1537A>T (p.Thr513Ser) rs1553319281
NM_014946.3(SPAST):c.156T>G (p.Tyr52Ter) rs1553394497
NM_014946.3(SPAST):c.1573C>T (p.Gln525Ter) rs1553319296
NM_014946.3(SPAST):c.1577_1580del (p.Gly526fs) rs1553319298
NM_014946.3(SPAST):c.1583del (p.Pro528fs) rs1573167562
NM_014946.3(SPAST):c.1593A>G (p.Gln531=) rs754291673
NM_014946.3(SPAST):c.1616+1G>C rs1553319327
NM_014946.3(SPAST):c.1617-1G>A rs1553319526
NM_014946.3(SPAST):c.1617-2A>G rs1553319524
NM_014946.3(SPAST):c.1637G>A (p.Gly546Glu) rs786204057
NM_014946.3(SPAST):c.1649C>T (p.Thr550Ile) rs1553319537
NM_014946.3(SPAST):c.1666G>C (p.Ala556Pro) rs1558341948
NM_014946.3(SPAST):c.166_175del (p.Tyr55_Pro56insTer) rs1553394509
NM_014946.3(SPAST):c.1675G>C (p.Gly559Arg) rs878854992
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.1684C>G (p.Arg562Gly) rs121908518
NM_014946.3(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_014946.3(SPAST):c.1688-1G>A rs1573174147
NM_014946.3(SPAST):c.1688-2A>G rs587777752
NM_014946.3(SPAST):c.1728+1G>A rs587777754
NM_014946.3(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.3(SPAST):c.1729-1G>A rs1064793976
NM_014946.3(SPAST):c.1729-2A>G rs1553321194
NM_014946.3(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.3(SPAST):c.1735A>C (p.Asn579His) rs144594804
NM_014946.3(SPAST):c.174T>C (p.Phe58=) rs145571171
NM_014946.3(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.3(SPAST):c.179G>A (p.Gly60Asp) rs1558605758
NM_014946.3(SPAST):c.1805A>C (p.Glu602Ala) rs776152816
NM_014946.3(SPAST):c.1813A>G (p.Ile605Val) rs372900676
NM_014946.3(SPAST):c.222C>T (p.Leu74=) rs372332499
NM_014946.3(SPAST):c.232C>G (p.Leu78Val) rs1558605868
NM_014946.3(SPAST):c.234C>G (p.Leu78=) rs1218904926
NM_014946.3(SPAST):c.243C>G (p.Arg81=) rs146956762
NM_014946.3(SPAST):c.280G>A (p.Gly94Arg) rs750218565
NM_014946.3(SPAST):c.286del (p.Ala96fs) rs1573028017
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.320C>T (p.Pro107Leu) rs776858496
NM_014946.3(SPAST):c.324G>C (p.Val108=) rs750637923
NM_014946.3(SPAST):c.328_340del (p.Gly110fs) rs1410418105
NM_014946.3(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.3(SPAST):c.344_353dup (p.Phe119fs) rs1558606204
NM_014946.3(SPAST):c.391C>T (p.Leu131=) rs1440932106
NM_014946.3(SPAST):c.410del (p.Glu137fs) rs1060502229
NM_014946.3(SPAST):c.421C>T (p.Gln141Ter) rs1485703744
NM_014946.3(SPAST):c.422_425del (p.Gln141fs) rs1553399472
NM_014946.3(SPAST):c.441A>G (p.Glu147=) rs375027118
NM_014946.3(SPAST):c.443G>A (p.Trp148Ter) rs1573068995
NM_014946.3(SPAST):c.444G>A (p.Trp148Ter) rs1553399493
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.3(SPAST):c.511T>C (p.Cys171Arg) rs746073001
NM_014946.3(SPAST):c.562del (p.Ala188fs) rs1553400002
NM_014946.3(SPAST):c.586+9_586+12del rs554544808
NM_014946.3(SPAST):c.630C>T (p.Asp210=) rs150444792
NM_014946.3(SPAST):c.64C>G (p.Pro22Ala) rs762209469
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.698del (p.Pro233fs) rs1573118105
NM_014946.3(SPAST):c.6_7del (p.Pro4fs) rs1553394366
NM_014946.3(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.3(SPAST):c.838C>T (p.Gln280Ter) rs1553314948
NM_014946.3(SPAST):c.865C>T (p.His289Tyr) rs74688377
NM_014946.3(SPAST):c.867_868del (p.His289fs) rs1558323659
NM_014946.3(SPAST):c.870+1G>A rs1553314978
NM_014946.3(SPAST):c.870G>A (p.Lys290=) rs1421791559
NM_014946.3(SPAST):c.883dup (p.Thr295fs) rs1553315181
NM_014946.3(SPAST):c.89C>T (p.Ala30Val) rs781516235
NM_014946.3(SPAST):c.925del (p.Arg309fs) rs863224515
NM_014946.3(SPAST):c.96C>G (p.Ala32=) rs200837566
NM_014946.3(SPAST):c.987G>A (p.Met329Ile) rs1553315231
NM_014946.3(SPAST):c.99T>A (p.Pro33=) rs1573027124
NM_014946.4(SPAST):c.1004+1G>C
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro)
NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly)
NM_014946.4(SPAST):c.1098+1G>A
NM_014946.4(SPAST):c.1129G>C (p.Gly377Arg)
NM_014946.4(SPAST):c.113C>T (p.Pro38Leu)
NM_014946.4(SPAST):c.1159G>A (p.Gly387Arg)
NM_014946.4(SPAST):c.1173+185_1245del
NM_014946.4(SPAST):c.1180del (p.Ala394fs)
NM_014946.4(SPAST):c.1211T>C (p.Phe404Ser)
NM_014946.4(SPAST):c.1228A>C (p.Ser410Arg)
NM_014946.4(SPAST):c.1237T>A (p.Ser413Thr)
NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu)
NM_014946.4(SPAST):c.1322A>T (p.Asp441Val)
NM_014946.4(SPAST):c.1325A>T (p.Glu442Val)
NM_014946.4(SPAST):c.1339_1340del (p.Leu447fs)
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)
NM_014946.4(SPAST):c.1408G>C (p.Asp470His)
NM_014946.4(SPAST):c.1411G>T (p.Gly471Cys)
NM_014946.4(SPAST):c.1448T>C (p.Met483Thr)
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter)
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)
NM_014946.4(SPAST):c.1486G>C (p.Val496Leu)
NM_014946.4(SPAST):c.1493+1G>A
NM_014946.4(SPAST):c.1495C>A (p.Arg499Ser)
NM_014946.4(SPAST):c.1499T>G (p.Phe500Cys)
NM_014946.4(SPAST):c.1514_1515del (p.Tyr505fs)
NM_014946.4(SPAST):c.152A>G (p.Tyr51Cys)
NM_014946.4(SPAST):c.1537-1G>A
NM_014946.4(SPAST):c.157T>G (p.Phe53Val)
NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro)
NM_014946.4(SPAST):c.1646T>C (p.Leu549Pro)
NM_014946.4(SPAST):c.1740del (p.Arg581fs)
NM_014946.4(SPAST):c.1755C>A (p.Phe585Leu)
NM_014946.4(SPAST):c.1785C>G (p.Ser595Arg)
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys)
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)
NM_014946.4(SPAST):c.302C>T (p.Ser101Leu)
NM_014946.4(SPAST):c.521del (p.Ala174fs)
NM_014946.4(SPAST):c.526C>A (p.Arg176Ser)
NM_014946.4(SPAST):c.586+3A>G
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer)
NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)
NM_014946.4(SPAST):c.80C>T (p.Pro27Leu)
NM_014946.4(SPAST):c.830G>T (p.Gly277Val)
NM_014946.4(SPAST):c.83G>C (p.Cys28Ser)
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_014946.4(SPAST):c.899_900insTT (p.Lys300fs)
NM_014946.4(SPAST):c.923_927del (p.Thr308fs)
NM_014946.4(SPAST):c.926G>A (p.Arg309His)
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter)
NM_014946.4(SPAST):c.93dup (p.Ala32fs)
NM_014946.4(SPAST):c.970del (p.Ala325fs)
NM_014946.4(SPAST):c.975dup (p.Asn326Ter)
NM_014946.4(SPAST):c.977dup (p.Asn326fs)
NM_199436.1(SPAST):c.1110_1112CTT[1] (p.Phe372del) rs1553317028
NM_199436.1(SPAST):c.1149del (p.Lys382_Tyr383insTer) rs863224513
NM_199436.1(SPAST):c.1339_1340AG[1] (p.Arg447fs) rs864622268
NM_199436.1(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro) rs1558605777
NM_199436.1(SPAST):c.390_391delinsGGT (p.Leu131fs) rs1060502230
NM_199436.1(SPAST):c.465del (p.Glu155fs) rs863224514
NM_199436.1(SPAST):c.622_623AC[3] (p.His209_Thr210insTer) rs1558323426

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.