ClinVar Miner

List of variants in gene SPAST reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_014946.3(SPAST):c.1027_1031dup (p.Ile344fs) rs1553315323
NM_014946.3(SPAST):c.1056del (p.Ala353fs) rs1553315336
NM_014946.3(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
NM_014946.3(SPAST):c.1167_1168del (p.Met390fs) rs1553316843
NM_014946.3(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.3(SPAST):c.1173+1G>A rs1060502226
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.3(SPAST):c.1224dup (p.Ala409fs) rs1558331940
NM_014946.3(SPAST):c.1245del (p.Lys414_Tyr415insTer) rs863224513
NM_014946.3(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.3(SPAST):c.1284_1285TG[3] (p.Ala430fs) rs1553318177
NM_014946.3(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.3(SPAST):c.1322-30_1322-2del rs1553318205
NM_014946.3(SPAST):c.1331A>G (p.Asp444Gly) rs886041597
NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.3(SPAST):c.1413+1G>T rs1553318276
NM_014946.3(SPAST):c.1413+5G>A rs1553318282
NM_014946.3(SPAST):c.1494-2A>C rs1218081251
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.156T>A (p.Tyr52Ter) rs1553394497
NM_014946.3(SPAST):c.1586T>A (p.Leu529Ter) rs1558340832
NM_014946.3(SPAST):c.1601del (p.Leu534fs) rs1553319318
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.1729-1G>A rs1064793976
NM_014946.3(SPAST):c.415+1G>T rs1057521135
NM_014946.3(SPAST):c.465del (p.Glu155fs) rs863224514
NM_014946.3(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.3(SPAST):c.571del (p.Arg191fs) rs1057517974
NM_014946.3(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.3(SPAST):c.746C>G (p.Ser249Ter) rs1553314902
NM_014946.3(SPAST):c.782C>A (p.Ser261Ter) rs768241184
NM_014946.3(SPAST):c.838C>T (p.Gln280Ter) rs1553314948
NM_014946.3(SPAST):c.839dup (p.Ser282fs) rs1558323598
NM_014946.3(SPAST):c.841G>T (p.Gly281Ter) rs1553314951
NM_014946.3(SPAST):c.867_868del (p.His289fs) rs1558323659
NM_014946.3(SPAST):c.871-1G>C rs1057524526
NM_014946.3(SPAST):c.871-2A>T rs1553315169

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.