List of variants in gene SPAST reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.1245+1G>A	rs875989878	0.00001
NM_014946.4(SPAST):c.1063C>T (p.Gln355Ter)	rs1678826642
NM_014946.4(SPAST):c.1180del (p.Ala394fs)	rs1679263902
NM_014946.4(SPAST):c.1204del (p.Thr402fs)	rs1679264713
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)	rs1553317028
NM_014946.4(SPAST):c.1245+6T>G	rs1553317050
NM_014946.4(SPAST):c.1276_1277del (p.Leu426fs)	rs1679543897
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)	rs878854990
NM_014946.4(SPAST):c.1379G>A (p.Arg460His)	rs1553318241
NM_014946.4(SPAST):c.1407del (p.Phe469fs)	rs1679557890
NM_014946.4(SPAST):c.1493+2T>A	rs1553318353
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)	rs121908518
NM_014946.4(SPAST):c.1702_1712del (p.Gln568fs)	rs1679916151
NM_014946.4(SPAST):c.238C>T (p.Gln80Ter)	rs1676403099
NM_014946.4(SPAST):c.267dup (p.Lys90fs)	rs1676404879
NM_014946.4(SPAST):c.27dup (p.Lys10fs)	rs1676385056
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)	rs746263735
NM_014946.4(SPAST):c.424A>T (p.Lys142Ter)	rs756977900
NM_014946.4(SPAST):c.430C>T (p.Gln144Ter)	rs1553399476
NM_014946.4(SPAST):c.456_460del (p.Ile153fs)	rs1677533134
NM_014946.4(SPAST):c.474del (p.Gly159fs)	rs1677533628
NM_014946.4(SPAST):c.474dup (p.Gly159fs)	rs1677533628
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)	rs1676388641
NM_014946.4(SPAST):c.703dup (p.Arg235fs)	rs1678753761
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)	rs1553314902
NM_014946.4(SPAST):c.757dup (p.Met253fs)	rs2148732951
NM_014946.4(SPAST):c.776_778del (p.Gly259_Leu260delinsVal)	rs1678758382
NM_014946.4(SPAST):c.780T>G (p.Leu260=)	rs1678758592
NM_014946.4(SPAST):c.782del (p.Leu260_Ser261insTer)	rs1678758915
NM_014946.4(SPAST):c.783dup (p.Gly262fs)	rs1678759023
NM_014946.4(SPAST):c.784_787del (p.Gly262fs)	rs1678759130
NM_014946.4(SPAST):c.790_791del (p.His263_His264insTer)	rs1678759604
NM_014946.4(SPAST):c.839_840del (p.Gln280fs)	rs1678762730
NM_014946.4(SPAST):c.841G>T (p.Gly281Ter)	rs1553314951
NM_014946.4(SPAST):c.880A>T (p.Lys294Ter)	rs1678803052
NM_014946.4(SPAST):c.936del (p.Asp313fs)	rs2148734097

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