ClinVar Miner

List of variants in gene SPAST studied for Spastic paraplegia 4, autosomal dominant

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Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP
NC_000002.11:g.32353207_32359908dup
NC_000002.11:g.32358735_32362780dup
NC_000002.11:g.32365580_32371821dup
NC_000002.12:g.(32083472_32084485)_(32142333_32142854)del
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.(?_32063826)_(32087584_?)del
NC_000002.12:g.(?_32114618)_(32116232_?)dup
NC_000002.12:g.(?_32114618)_(32128499_?)del
NC_000002.12:g.(?_32114618)_(32147278_?)del
NC_000002.12:g.(?_32114638)_(32157637_?)del
NC_000002.12:g.(?_32126928)_(32128499_?)del
NC_000002.12:g.(?_32136543)_(32137208_?)del
NC_000002.12:g.(?_32136543)_(32147278_?)del
NC_000002.12:g.32049842_32066177del16336
NC_000002.12:g.32057691_32078185del20495
NC_000002.12:g.32057783_32070334del12552
NC_000002.12:g.32063148_32067182del4035
NC_000002.12:g.32063639_32080127del16489
NC_000002.12:g.32066710_32132126del65417
NC_000002.12:g.32066734_32139588del72855
NC_000002.12:g.32077068_32125989del48922
NC_000002.12:g.32083106_32116600del33495
NC_000002.12:g.32104654_32148073del43420
NC_000002.12:g.32107605_32115865del8261
NC_000002.12:g.32113361_32115224del1864
NC_000002.12:g.32113664_32125322del11659
NC_000002.12:g.32114645_32122725del8081
NC_000002.12:g.32115334_32120354del5021
NC_000002.12:g.32125886_32135221del9336
NC_000002.12:g.32125992_32134891del8900
NC_000002.12:g.32127040_32154579del27540
NC_000002.12:g.32131874_32147845del15972
NC_000002.12:g.32135250_32156159del20910
NC_000002.12:g.32146840_32148799del1960
NC_000002.12:g.32147726_32164528del16803
NC_000002.12:g.32147763_32165337del17575
NC_000002.12:g.32148610_32159376del10767
NC_000002.12:g.32149358_32163762del14405
NC_000002.12:g.32151043_32156137del5095
NC_000002.12:g.32153490_32156211del2722
NC_000002.12:g.32153843_32159343del5501
NG_008730.1:g.(81616_82892)_(88338_90767)del
NG_008730.1:g.75057_79101dup
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del (p.(?))
NM_014946.3(SPAST):c.-112_415+1779del
NM_014946.3(SPAST):c.1018_1022delAAATT (p.Lys340Terfs) rs1553315321
NM_014946.3(SPAST):c.1031T>A (p.Ile344Lys) rs121908513
NM_014946.3(SPAST):c.1048G>A (p.Ala350Thr)
NM_014946.3(SPAST):c.1049C>T (p.Ala350Val) rs1060502231
NM_014946.3(SPAST):c.1085C>G (p.Ser362Cys) rs121908509
NM_014946.3(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.3(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
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.1139T>C (p.Leu380Pro)
NM_014946.3(SPAST):c.113C>G (p.Pro38Arg) rs1041662261
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.1169T>A (p.Met390Lys) rs1131691977
NM_014946.3(SPAST):c.1173+1G>A rs1060502226
NM_014946.3(SPAST):c.1174-1G>A
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.1215_1219delTATAA (p.Asn405Lysfs) 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.1232T>C (p.Leu411Ser)
NM_014946.3(SPAST):c.1245+4A>G rs587777755
NM_014946.3(SPAST):c.1245delC (p.Tyr415Terfs) rs863224513
NM_014946.3(SPAST):c.1252G>T (p.Glu418Ter) rs1553318164
NM_014946.3(SPAST):c.1253_1255del (p.Glu418del)
NM_014946.3(SPAST):c.1258G>C (p.Glu420Gln)
NM_014946.3(SPAST):c.1261A>G (p.Lys421Glu)
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.1292G>A (p.Arg431Gln) rs748779010
NM_014946.3(SPAST):c.1307C>T (p.Ser436Phe)
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.3(SPAST):c.1334G>A (p.Ser445Asn)
NM_014946.3(SPAST):c.1335C>A (p.Ser445Arg) rs121908519
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.1363C>G (p.His455Asp) rs863224769
NM_014946.3(SPAST):c.1374T>G (p.Ser458Arg)
NM_014946.3(SPAST):c.1375A>G (p.Arg459Gly) rs1553318238
NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.3(SPAST):c.1392delA (p.Glu464Aspfs)
NM_014946.3(SPAST):c.1395del (p.Leu466Terfs) rs587777751
NM_014946.3(SPAST):c.1398_1413+1dup
NM_014946.3(SPAST):c.1409A>T (p.Asp470Val) rs121908516
NM_014946.3(SPAST):c.1412G>A (p.Gly471Asp) rs1553318274
NM_014946.3(SPAST):c.1413+2dup rs587777756
NM_014946.3(SPAST):c.1413+3_1413+6delAAGT 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.1437_1438delAG (p.Arg479Serfs) rs864622268
NM_014946.3(SPAST):c.1442_1443insA (p.Val482Cysfs) rs1553318313
NM_014946.3(SPAST):c.1451G>A (p.Gly484Asp)
NM_014946.3(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.3(SPAST):c.1457C>T (p.Thr486Ile)
NM_014946.3(SPAST):c.1458_1459dup (p.Asn487Ilefs)
NM_014946.3(SPAST):c.1459A>C (p.Asn487His) rs1553318323
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.1477G>T (p.Asp493Tyr) rs1060499939
NM_014946.3(SPAST):c.1483G>A (p.Ala495Thr) rs1060502228
NM_014946.3(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.3(SPAST):c.1493+18G>T rs189961829
NM_014946.3(SPAST):c.1493+2_1493+5delTAGG
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
NM_014946.3(SPAST):c.1494-3dupT rs760322678
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)
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.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.3(SPAST):c.1535_1536+1delAGG
NM_014946.3(SPAST):c.1537-11A>G
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_1580delGAAG (p.Gly526Valfs) rs1553319298
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
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1637G>A (p.Gly546Glu) rs786204057
NM_014946.3(SPAST):c.1649C>T (p.Thr550Ile)
NM_014946.3(SPAST):c.1666G>A (p.Ala556Thr)
NM_014946.3(SPAST):c.1666G>C (p.Ala556Pro)
NM_014946.3(SPAST):c.166_175delCCGCTGTTTG (p.Pro56Terfs) 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.1688-2A>G rs587777752
NM_014946.3(SPAST):c.1728+1G>A
NM_014946.3(SPAST):c.1728+1G>C rs587777754
NM_014946.3(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.3(SPAST):c.1729-2A>G
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.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.3(SPAST):c.179G>A (p.Gly60Asp)
NM_014946.3(SPAST):c.1813A>G (p.Ile605Val) rs372900676
NM_014946.3(SPAST):c.199_202delGTCGinsATCC (p.Val67_Ala68delinsIlePro)
NM_014946.3(SPAST):c.232C>G (p.Leu78Val)
NM_014946.3(SPAST):c.280G>A (p.Gly94Arg)
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.312_317dup (p.Pro107_Val108insAlaPro)
NM_014946.3(SPAST):c.328_340delGGCGGCGAGGCCG (p.Gly110Serfs) rs1410418105
NM_014946.3(SPAST):c.344_353dup (p.Phe119Argfs)
NM_014946.3(SPAST):c.390_391delCCinsGGT (p.Leu131Valfs) rs1060502230
NM_014946.3(SPAST):c.410delA (p.Glu137Glyfs) rs1060502229
NM_014946.3(SPAST):c.421C>T (p.Gln141Ter) rs1485703744
NM_014946.3(SPAST):c.422_425delAGAA (p.Gln141Argfs) rs1553399472
NM_014946.3(SPAST):c.444G>A (p.Trp148Ter) rs1553399493
NM_014946.3(SPAST):c.453dup (p.Gly152Argfs) rs587777753
NM_014946.3(SPAST):c.465delA (p.Glu155Aspfs) rs863224514
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.511T>C (p.Cys171Arg) rs746073001
NM_014946.3(SPAST):c.562delG (p.Ala188Profs) rs1553400002
NM_014946.3(SPAST):c.586+9_586+12delTAAT rs554544808
NM_014946.3(SPAST):c.631G>A (p.Val211Ile)
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.6_7delTT (p.Pro4Glyfs) rs1553394366
NM_014946.3(SPAST):c.724_725delAC (p.Thr242Terfs)
NM_014946.3(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.3(SPAST):c.832G>A (p.Val278Met) rs369908571
NM_014946.3(SPAST):c.865C>T (p.His289Tyr) rs74688377
NM_014946.3(SPAST):c.870+1G>A rs1553314978
NM_014946.3(SPAST):c.870G>A (p.Lys290=) rs1421791559
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_014946.3(SPAST):c.883dup (p.Thr295Asnfs) rs1553315181
NM_014946.3(SPAST):c.925delC (p.Arg309Valfs) rs863224515
NM_014946.3(SPAST):c.987G>A (p.Met329Ile) rs1553315231
NM_199436.1(SPAST):c.1015C>T (p.Leu339Phe) rs1060499670
NM_199436.1(SPAST):c.1149+1G>A rs875989878
SPAST, LYS229TER

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