ClinVar Miner

List of variants in gene SPAST reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP
NM_014946.3(SPAST):c.*1156T>C rs546193636
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.*1231C>T rs886055974
NM_014946.3(SPAST):c.*1476A>G rs760307887
NM_014946.3(SPAST):c.*1543_*1544insT rs751815134
NM_014946.3(SPAST):c.*1544dup rs542086083
NM_014946.3(SPAST):c.*157A>C rs886055963
NM_014946.3(SPAST):c.*1777G>A rs886055976
NM_014946.3(SPAST):c.*1783C>T rs886055977
NM_014946.3(SPAST):c.*1829C>T rs886055978
NM_014946.3(SPAST):c.*1858T>G rs573241334
NM_014946.3(SPAST):c.*2196A>T rs886055979
NM_014946.3(SPAST):c.*2322T>G rs530517245
NM_014946.3(SPAST):c.*2504A>G rs886055980
NM_014946.3(SPAST):c.*2658A>T rs886055981
NM_014946.3(SPAST):c.*2779G>A rs886055982
NM_014946.3(SPAST):c.*2898C>T rs886055983
NM_014946.3(SPAST):c.*2904C>T rs534543205
NM_014946.3(SPAST):c.*2987G>C rs770713063
NM_014946.3(SPAST):c.*2999dup rs886055984
NM_014946.3(SPAST):c.*382G>A rs570596299
NM_014946.3(SPAST):c.*478G>T rs886055966
NM_014946.3(SPAST):c.*494C>T rs886055967
NM_014946.3(SPAST):c.*521A>G rs886055968
NM_014946.3(SPAST):c.*533T>G rs886055969
NM_014946.3(SPAST):c.*815_*828delinsAAC rs886055971
NM_014946.3(SPAST):c.*892T>G rs886055972
NM_014946.3(SPAST):c.-104_-102del rs886055960
NM_014946.3(SPAST):c.-168G>A rs886055959
NM_014946.3(SPAST):c.-176C>T rs886055958
NM_014946.3(SPAST):c.-220G>T rs886055957
NM_014946.3(SPAST):c.-41C>T rs374327295
NM_014946.3(SPAST):c.-7G>A rs376165443
NM_014946.3(SPAST):c.1004+3_1004+6del rs1553315234
NM_014946.3(SPAST):c.1005-5C>A rs377123251
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.1061T>G (p.Leu354Trp) rs1553315342
NM_014946.3(SPAST):c.1096G>A (p.Glu366Lys) rs1553315356
NM_014946.3(SPAST):c.1098+5G>T rs886042914
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.1120C>T (p.Pro374Ser) rs1553316810
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.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.3(SPAST):c.1196C>G (p.Ser399Trp) rs1553317025
NM_014946.3(SPAST):c.1217T>C (p.Ile406Thr) rs1553317038
NM_014946.3(SPAST):c.1220G>A (p.Ser407Asn)
NM_014946.3(SPAST):c.1223C>T (p.Ala408Val) rs1553317043
NM_014946.3(SPAST):c.1232T>C (p.Leu411Ser) rs1558331955
NM_014946.3(SPAST):c.1245+5G>A rs1553317049
NM_014946.3(SPAST):c.1247T>C (p.Val416Ala) rs1558336489
NM_014946.3(SPAST):c.1252G>A (p.Glu418Lys)
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>T (p.Leu426Phe) rs1060502227
NM_014946.3(SPAST):c.1292G>A (p.Arg431Gln) rs748779010
NM_014946.3(SPAST):c.1334G>A (p.Ser445Asn)
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.1363C>G (p.His455Asp) rs863224769
NM_014946.3(SPAST):c.1373G>C (p.Ser458Thr) rs562431619
NM_014946.3(SPAST):c.1374T>G (p.Ser458Arg)
NM_014946.3(SPAST):c.1432G>A (p.Asp478Asn) rs1191508807
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.1457C>T (p.Thr486Ile) rs1558337122
NM_014946.3(SPAST):c.1459A>G (p.Asn487Asp) 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.1483G>A (p.Ala495Thr) rs1060502228
NM_014946.3(SPAST):c.1486G>A (p.Val496Ile) rs779662872
NM_014946.3(SPAST):c.1494-5T>G rs1553319072
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.3(SPAST):c.1501A>C (p.Ile501Leu) rs1057519108
NM_014946.3(SPAST):c.1505A>C (p.Lys502Thr) rs1558339891
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.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.1625A>G (p.Asp542Gly) rs142053576
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.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.3(SPAST):c.1735A>C (p.Asn579His) rs144594804
NM_014946.3(SPAST):c.1744T>C (p.Leu582=) rs886055962
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
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.19C>A (p.Arg7=) rs779449573
NM_014946.3(SPAST):c.232C>G (p.Leu78Val) rs1558605868
NM_014946.3(SPAST):c.244T>C (p.Phe82Leu) rs1558605895
NM_014946.3(SPAST):c.277T>C (p.Ser93Pro) rs1156801351
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.104_105AP[3]) rs747993450
NM_014946.3(SPAST):c.320C>T (p.Pro107Leu)
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.55C>T (p.Pro19Ser) rs372349942
NM_014946.3(SPAST):c.586+9_586+12del rs554544808
NM_014946.3(SPAST):c.644G>A (p.Ser215Asn) rs774722817
NM_014946.3(SPAST):c.832G>A (p.Val278Met) rs369908571
NM_014946.3(SPAST):c.89C>T (p.Ala30Val)
NM_014946.3(SPAST):c.987G>A (p.Met329Ile) rs1553315231
NM_014946.3(SPAST):c.98C>T (p.Pro33Leu) rs777721232
NM_199436.1(SPAST):c.*372_*375TTGT[2] rs756347073
NM_199436.1(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro) rs1558605777

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