ClinVar Miner

List of variants in gene SPAST reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 79
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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)_(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.1005-1G>A
NM_014946.3(SPAST):c.1018_1022del (p.Val339_Lys340insTer) rs1553315321
NM_014946.3(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
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.1215_1219del (p.Asn405fs) rs1553317032
NM_014946.3(SPAST):c.1238C>T (p.Ser413Leu)
NM_014946.3(SPAST):c.1245+1G>A rs875989878
NM_014946.3(SPAST):c.1252G>T (p.Glu418Ter) rs1553318164
NM_014946.3(SPAST):c.1276C>G (p.Leu426Val) 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.1361dup (p.His455fs)
NM_014946.3(SPAST):c.1368dup (p.Ala457fs)
NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.3(SPAST):c.1392del (p.Glu464fs) rs1558336906
NM_014946.3(SPAST):c.1412G>A (p.Gly471Asp) rs1553318274
NM_014946.3(SPAST):c.1414-1G>C rs786204163
NM_014946.3(SPAST):c.1417C>T (p.Gln473Ter) rs757130394
NM_014946.3(SPAST):c.1442_1443insA (p.Val482fs) rs1553318313
NM_014946.3(SPAST):c.1458_1459dup (p.Asn487fs) rs1558337136
NM_014946.3(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.3(SPAST):c.1494-2A>C rs1218081251
NM_014946.3(SPAST):c.1494-2A>G rs1218081251
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.1507C>T (p.Arg503Trp) rs864622162
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.1617-1G>A rs1553319526
NM_014946.3(SPAST):c.1637G>A (p.Gly546Glu) rs786204057
NM_014946.3(SPAST):c.166_175del (p.Tyr55_Pro56insTer) rs1553394509
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.1729-1G>A rs1064793976
NM_014946.3(SPAST):c.286del (p.Ala96fs)
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.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.562del (p.Ala188fs) rs1553400002
NM_014946.3(SPAST):c.698del (p.Pro233fs)
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.870+1G>A rs1553314978
NM_014946.3(SPAST):c.883dup (p.Thr295fs) rs1553315181
NM_014946.3(SPAST):c.925del (p.Arg309fs) rs863224515
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.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
Single allele

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