List of variants reported as pathogenic for hereditary spastic paraplegia 4 by Paris Brain Institute, Inserm - ICM

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

Total variants: 102

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.1245+1G>A	rs875989878	0.00001
NC_000002.11:g.(32323961_32339706)_(32372328_32379442)del
NC_000002.11:g.(32341281_32352017)_(32379565_?)del
NC_000002.11:g.(32341282_32352016)_(32353549_32361631)del
NC_000002.11:g.(32341282_32352016)_(32372328_32379442)del
NC_000002.11:g.(32353549_32361631)_(32372328_32379442)del
NC_000002.11:g.(32362258_32366972)_(32370077_32372286)del
NC_000002.11:g.(32372327_32379443)_(32379565_?)del
NC_000002.11:g.(?_32288901)_(32362257_32366973)del
NM_014946.4(SPAST):c.1004+1G>T	rs1553315236
NM_014946.4(SPAST):c.1004+2T>G	rs1553315240
NM_014946.4(SPAST):c.1004+5G>T	rs1320663265
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)	rs1553315329
NM_014946.4(SPAST):c.1047G>C (p.Leu349Phe)	rs2148734527
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)	rs1057519181
NM_014946.4(SPAST):c.1085C>T (p.Ser362Phe)	rs121908509
NM_014946.4(SPAST):c.1098+2T>A	rs2148734626
NM_014946.4(SPAST):c.1099-1G>A	rs2148744884
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)	rs1553316802
NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg)	rs1553316806
NM_014946.4(SPAST):c.1148C>G (p.Pro383Arg)	rs2148745001
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)	rs786204132
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)	rs797044850
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)	rs1679218212
NM_014946.4(SPAST):c.1174-1G>A	rs1553317024
NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)	rs1189374970
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)	rs1553317025
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)	rs1553317028
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs)	rs1553317032
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)	rs587777757
NM_014946.4(SPAST):c.1219A>C (p.Ser407Arg)	rs1553317041
NM_014946.4(SPAST):c.1226C>T (p.Ala409Val)	rs2148746390
NM_014946.4(SPAST):c.1242A>G (p.Lys414=)	rs1553317048
NM_014946.4(SPAST):c.1245+3G>C	rs2148746437
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)	rs1553318164
NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)	rs2148753625
NM_014946.4(SPAST):c.1263del (p.Lys421fs)	rs1679543364
NM_014946.4(SPAST):c.1266G>C (p.Leu422Phe)	rs1679543653
NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr)	rs2148753672
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)	rs1060502227
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)	rs1060502227
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)	rs786204126
NM_014946.4(SPAST):c.1306T>C (p.Ser436Pro)	rs2148753700
NM_014946.4(SPAST):c.1307C>A (p.Ser436Tyr)	rs1553318184
NM_014946.4(SPAST):c.1321+1G>A	rs2148753724
NM_014946.4(SPAST):c.1321+2T>G	rs2148753725
NM_014946.4(SPAST):c.1322-2A>C	rs1553318208
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)	rs121908512
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)	rs2148753950
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)	rs1553318230
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)	rs878854990
NM_014946.4(SPAST):c.1384A>C (p.Lys462Gln)	rs1553318246
NM_014946.4(SPAST):c.1396C>G (p.Leu466Val)	rs1553318252
NM_014946.4(SPAST):c.1405T>G (p.Phe469Val)	rs2148754101
NM_014946.4(SPAST):c.1413+1_1413+2del	rs1679558544
NM_014946.4(SPAST):c.1413+3_1413+6del	rs570685843
NM_014946.4(SPAST):c.1414-1G>C	rs786204163
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)	rs864622268
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)	rs1553318317
NM_014946.4(SPAST):c.1462A>G (p.Arg488Gly)	rs1553318329
NM_014946.4(SPAST):c.1463_1464insATTA (p.Pro489fs)	rs2148754355
NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu)	rs1553318331
NM_014946.4(SPAST):c.1472A>G (p.Glu491Gly)	rs2148754376
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)	rs1060502228
NM_014946.4(SPAST):c.1493+1G>T	rs1553318351
NM_014946.4(SPAST):c.1493+2T>C	rs1553318353
NM_014946.4(SPAST):c.1494-1G>A	rs1315245986
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)	rs121908511
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014946.4(SPAST):c.1496del (p.Arg499fs)	rs2148758241
NM_014946.4(SPAST):c.1537-1G>A	rs1553319280
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser)	rs2148759388
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)	rs1553319290
NM_014946.4(SPAST):c.1560_1561insTT (p.Leu521fs)	rs2148759400
NM_014946.4(SPAST):c.1561_1564del (p.Leu521fs)	rs2148759407
NM_014946.4(SPAST):c.1562dup (p.Leu522fs)	rs2148759412
NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter)	rs2148759447
NM_014946.4(SPAST):c.1616+5G>A	rs2148759485
NM_014946.4(SPAST):c.1617-15_1624dup	rs2148760797
NM_014946.4(SPAST):c.1617-2A>T	rs1553319524
NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)	rs368951498
NM_014946.4(SPAST):c.1667C>T (p.Ala556Val)	rs2148760886
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)	rs121908518
NM_014946.4(SPAST):c.1688-1G>C	rs1573174147
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr)	rs138146982
NM_014946.4(SPAST):c.1728+1G>A	rs587777754
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)	rs778023258
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro)	rs749484350
NM_014946.4(SPAST):c.1767del (p.Lys591_Ile592insTer)	rs2148769284
NM_014946.4(SPAST):c.1774dup (p.Ile592fs)	rs1680185365
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter)	rs1553399493
NM_014946.4(SPAST):c.447T>A (p.Tyr149Ter)	rs1553399498
NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)	rs1553400013
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)	rs1676388641
NM_014946.4(SPAST):c.72_90dup (p.Pro31fs)	rs886800078
NM_014946.4(SPAST):c.748A>T (p.Lys250Ter)	rs1318536893
NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter)	rs771388402
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)	rs1553314948
NM_014946.4(SPAST):c.870+3A>G	rs1553314979
NM_014946.4(SPAST):c.872del	rs1678801811
NM_014946.4(SPAST):c.955A>T (p.Asn319Tyr)	rs1678808584
NM_014946.4(SPAST):c.983T>C (p.Ile328Thr)	rs2148734189

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.