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: 151
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HGVS dbSNP
NC_000002.11:g.(?_32288680)_(32289315_?)del
NC_000002.11:g.(?_32288881)_(32289335_?)del
NC_000002.11:g.(?_32288895)_(32312653_?)del
NC_000002.11:g.(?_32339687)_(32341301_?)dup
NC_000002.11:g.(?_32339687)_(32353568_?)del
NC_000002.11:g.(?_32339687)_(32372347_?)del
NC_000002.11:g.(?_32339707)_(32382706_?)del
NC_000002.11:g.(?_32352007)_(32353558_?)del
NC_000002.11:g.(?_32352007)_(32379575_?)del
NC_000002.11:g.(?_32361612)_(32372347_?)del
NC_000002.11:g.(?_32361622)_(32361717_?)del
NC_000002.11:g.(?_32361622)_(32362267_?)del
NC_000002.11:g.(?_32379433)_(32379575_?)del
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
NM_014946.3(SPAST):c.1004+3_1004+6delAAGT rs1553315234
NM_014946.3(SPAST):c.1005-1G>A
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.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) rs1553316819
NM_014946.3(SPAST):c.113C>G (p.Pro38Arg) rs1041662261
NM_014946.3(SPAST):c.1151C>T (p.Pro384Leu)
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
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_1219del (p.Asn405fs) rs1553317032
NM_014946.3(SPAST):c.1217T>C (p.Ile406Thr) rs1553317038
NM_014946.3(SPAST):c.1220G>A (p.Ser407Asn)
NM_014946.3(SPAST):c.1238C>T (p.Ser413Leu)
NM_014946.3(SPAST):c.1245+1G>A rs875989878
NM_014946.3(SPAST):c.1245del (p.Lys414_Tyr415insTer) rs863224513
NM_014946.3(SPAST):c.1252G>A (p.Glu418Lys)
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.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.1334G>A (p.Ser445Asn)
NM_014946.3(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_014946.3(SPAST):c.1360G>A (p.Glu454Lys)
NM_014946.3(SPAST):c.1361dup (p.His455fs)
NM_014946.3(SPAST):c.1363C>G (p.His455Asp) rs863224769
NM_014946.3(SPAST):c.1368dup (p.Ala457fs)
NM_014946.3(SPAST):c.1374T>G (p.Ser458Arg)
NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.3(SPAST):c.1392del (p.Glu464fs) rs1558336906
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+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.1435_1436AG[1] (p.Arg479fs) rs864622268
NM_014946.3(SPAST):c.1442_1443insA (p.Val482fs) rs1553318313
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+5delTAGG 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.1494-3dupT 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) 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+1delAGG rs1558339948
NM_014946.3(SPAST):c.1536+2dup
NM_014946.3(SPAST):c.1536G>A (p.Glu512=) rs1553319093
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_1580del (p.Gly526fs) rs1553319298
NM_014946.3(SPAST):c.1583del (p.Pro528fs)
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.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>T (p.Arg562Ter) rs121908518
NM_014946.3(SPAST):c.1688-1G>A
NM_014946.3(SPAST):c.1688-2A>G rs587777752
NM_014946.3(SPAST):c.1728+1G>A
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.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.3(SPAST):c.179G>A (p.Gly60Asp) rs1558605758
NM_014946.3(SPAST):c.1805A>C (p.Glu602Ala)
NM_014946.3(SPAST):c.1813A>G (p.Ile605Val) rs372900676
NM_014946.3(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro) rs1558605777
NM_014946.3(SPAST):c.232C>G (p.Leu78Val) rs1558605868
NM_014946.3(SPAST):c.280G>A (p.Gly94Arg)
NM_014946.3(SPAST):c.286del (p.Ala96fs)
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.320C>T (p.Pro107Leu)
NM_014946.3(SPAST):c.328_340del (p.Gly110fs) rs1410418105
NM_014946.3(SPAST):c.344_353dup (p.Phe119fs) rs1558606204
NM_014946.3(SPAST):c.390_391delinsGGT (p.Leu131fs) rs1060502230
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.443G>A (p.Trp148Ter)
NM_014946.3(SPAST):c.444G>A (p.Trp148Ter) rs1553399493
NM_014946.3(SPAST):c.465del (p.Glu155fs) 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.562del (p.Ala188fs) rs1553400002
NM_014946.3(SPAST):c.586+9_586+12delTAAT rs554544808
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.698del (p.Pro233fs)
NM_014946.3(SPAST):c.6_7del (p.Pro4fs) rs1553394366
NM_014946.3(SPAST):c.718_719AC[3] (p.His241_Thr242insTer) rs1558323426
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.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.Thr295fs) rs1553315181
NM_014946.3(SPAST):c.89C>T (p.Ala30Val)
NM_014946.3(SPAST):c.925del (p.Arg309fs) rs863224515
NM_014946.3(SPAST):c.987G>A (p.Met329Ile) rs1553315231
Single allele

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