ClinVar Miner

List of variants in gene SPAST reported as likely pathogenic

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Gene type:
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Total variants: 51
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HGVS dbSNP
NC_000002.11:g.(?_32339687)_(32341301_?)dup
NM_014946.3(SPAST):c.1066G>A (p.Glu356Lys) rs1057519181
NM_014946.3(SPAST):c.1111C>T (p.Leu371Phe) rs1060499670
NM_014946.3(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.3(SPAST):c.1169T>C (p.Met390Thr) rs1131691977
NM_014946.3(SPAST):c.1170G>A (p.Met390Ile) rs1131691971
NM_014946.3(SPAST):c.1174-1G>A
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.3(SPAST):c.1225G>A (p.Ala409Thr) rs1064793273
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.3(SPAST):c.1303C>T (p.Pro435Ser) rs1064796279
NM_014946.3(SPAST):c.1334G>C (p.Ser445Thr) rs1131691838
NM_014946.3(SPAST):c.1360G>A (p.Glu454Lys)
NM_014946.3(SPAST):c.1398_1413+1dup rs1558336927
NM_014946.3(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.3(SPAST):c.1413+5G>C rs1553318282
NM_014946.3(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
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.1494-1G>C rs1315245986
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.1535_1536+1del rs1558339948
NM_014946.3(SPAST):c.1536+1G>C rs1553319095
NM_014946.3(SPAST):c.1616+1G>C rs1553319327
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1634C>G (p.Ser545Ter) rs869312949
NM_014946.3(SPAST):c.1666G>A (p.Ala556Thr) rs1558341948
NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly) rs1057518873
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.1685G>A (p.Arg562Gln) rs863224923
NM_014946.3(SPAST):c.1714A>G (p.Met572Val) rs1131691684
NM_014946.3(SPAST):c.1729-2A>G rs1553321194
NM_014946.3(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.3(SPAST):c.1762T>C (p.Ser588Pro) rs1131691972
NM_014946.3(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.3(SPAST):c.1775_1778del (p.Ile592fs) rs1553321232
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.3(SPAST):c.1815dup (p.Arg606fs) rs1553321261
NM_014946.3(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.3(SPAST):c.363del (p.Lys121fs) rs1553394622
NM_014946.3(SPAST):c.631G>A (p.Val211Ile)
NM_014946.3(SPAST):c.870G>A (p.Lys290=) rs1421791559
NM_014946.3(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_014946.3(SPAST):c.962_974del (p.Asp321fs) rs1553315223
NM_199436.1(SPAST):c.1110_1112CTT[1] (p.Phe372del) rs1553317028
NM_199436.1(SPAST):c.1113_1116del (p.Phe371fs) rs1553317029
NM_199436.1(SPAST):c.1380_1382TGA[3] (p.Asp461dup) rs1553318338

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