List of variants reported as uncertain significance for amyotrophic lateral sclerosis type 6 by Invitae

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: 100

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004960.4(FUS):c.188A>G (p.Asn63Ser)	rs140883211	0.00033
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	rs186547381	0.00016
NM_004960.4(FUS):c.661_663del (p.Ser221del)	rs746633090	0.00010
NM_004960.4(FUS):c.630G>C (p.Gln210His)	rs779124981	0.00006
NM_004960.4(FUS):c.484A>C (p.Asn162His)	rs200264565	0.00004
NM_004960.4(FUS):c.676G>A (p.Gly226Ser)	rs758970940	0.00004
NM_004960.4(FUS):c.788A>G (p.Asn263Ser)	rs144917373	0.00004
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser)	rs201533156	0.00003
NM_004960.4(FUS):c.452C>T (p.Pro151Leu)	rs144342946	0.00003
NM_004960.4(FUS):c.673G>A (p.Gly225Ser)	rs551577399	0.00003
NM_004960.4(FUS):c.1204_1206del (p.Ser402del)	rs781120756	0.00002
NM_004960.4(FUS):c.238G>A (p.Gly80Ser)	rs776474571	0.00002
NM_004960.4(FUS):c.317C>T (p.Pro106Leu)	rs374191107	0.00002
NM_004960.4(FUS):c.716A>G (p.Tyr239Cys)	rs145013063	0.00002
NM_004960.4(FUS):c.*108C>T	rs780606789	0.00001
NM_004960.4(FUS):c.1147C>T (p.Arg383Cys)	rs776191869	0.00001
NM_004960.4(FUS):c.1168+6G>C	rs750980752	0.00001
NM_004960.4(FUS):c.1394G>A (p.Gly465Glu)	rs141684472	0.00001
NM_004960.4(FUS):c.1544G>T (p.Gly515Val)	rs1307257028	0.00001
NM_004960.4(FUS):c.181A>G (p.Ser61Gly)	rs1481060391	0.00001
NM_004960.4(FUS):c.182G>A (p.Ser61Asn)	rs777365216	0.00001
NM_004960.4(FUS):c.265T>A (p.Ser89Thr)	rs372638663	0.00001
NM_004960.4(FUS):c.688G>T (p.Gly230Cys)	rs748374535	0.00001
NM_004960.4(FUS):c.701G>A (p.Arg234His)	rs749434237	0.00001
NC_000016.10:g.(?_31182388)_(31194881_?)dup
NC_000016.10:g.31184376GAGGTG[6]
NM_004960.3(FUS):c.515_523+3del
NM_004960.4(FUS):c.1055A>T (p.Asp352Val)
NM_004960.4(FUS):c.1087C>G (p.Pro363Ala)
NM_004960.4(FUS):c.1111C>T (p.Arg371Cys)	rs773141319
NM_004960.4(FUS):c.1148G>A (p.Arg383His)
NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)
NM_004960.4(FUS):c.1171C>G (p.Pro391Ala)	rs560450437
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)
NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)
NM_004960.4(FUS):c.1317T>C (p.Ser439=)	rs377010944
NM_004960.4(FUS):c.1369G>A (p.Gly457Arg)
NM_004960.4(FUS):c.1371_1373dup (p.Gly458_Pro459insGly)
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu)	rs1131691846
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys)	rs914056789
NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)
NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)
NM_004960.4(FUS):c.1471C>A (p.Arg491Ser)	rs753458243
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp)	rs267606831
NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)
NM_004960.4(FUS):c.1545_1547dup (p.Gly515_Glu516insAsp)	rs2079357583
NM_004960.4(FUS):c.1549C>A (p.His517Asn)
NM_004960.4(FUS):c.1550A>G (p.His517Arg)	rs1085308015
NM_004960.4(FUS):c.1552A>G (p.Arg518Gly)	rs1409962577
NM_004960.4(FUS):c.1555C>G (p.Gln519Glu)	rs1567479067
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly)	rs1555509693
NM_004960.4(FUS):c.1566G>C (p.Arg522Ser)
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp)	rs267606833
NM_004960.4(FUS):c.167CTT[1] (p.Ser57del)	rs777545405
NM_004960.4(FUS):c.211A>G (p.Thr71Ala)
NM_004960.4(FUS):c.215C>T (p.Pro72Leu)	rs2144107259
NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr)	rs2079220021
NM_004960.4(FUS):c.335+6G>C
NM_004960.4(FUS):c.340G>A (p.Gly114Ser)
NM_004960.4(FUS):c.39-18G>A
NM_004960.4(FUS):c.392G>A (p.Ser131Asn)
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1])	rs747579808
NM_004960.4(FUS):c.474G>C (p.Gln158His)
NM_004960.4(FUS):c.493A>G (p.Ser165Gly)	rs1325339011
NM_004960.4(FUS):c.493_495del (p.Ser165del)	rs2079227565
NM_004960.4(FUS):c.511G>T (p.Gly171Cys)
NM_004960.4(FUS):c.52C>T (p.Pro18Ser)	rs144888138
NM_004960.4(FUS):c.537A>C (p.Gln179His)
NM_004960.4(FUS):c.550A>G (p.Met184Val)
NM_004960.4(FUS):c.559G>A (p.Gly187Ser)
NM_004960.4(FUS):c.566G>A (p.Gly189Asp)
NM_004960.4(FUS):c.571G>A (p.Gly191Ser)	rs148758737
NM_004960.4(FUS):c.587A>G (p.Asn196Ser)
NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)
NM_004960.4(FUS):c.646_669del (p.Arg216_Gly223del)
NM_004960.4(FUS):c.647G>A (p.Arg216His)
NM_004960.4(FUS):c.649G>C (p.Gly217Arg)	rs565915110
NM_004960.4(FUS):c.652_678del (p.Arg218_Gly226del)	rs756437417
NM_004960.4(FUS):c.654_662dup (p.Gly220_Ser221insArgGlyGly)
NM_004960.4(FUS):c.669CGG[10] (p.Gly228_Gly231dup)	rs72550890
NM_004960.4(FUS):c.669CGG[2] (p.Gly228_Gly231del)	rs72550890
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del)	rs72550890
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup)	rs72550890
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup)	rs72550890
NM_004960.4(FUS):c.685GGT[4] (p.Gly231_Tyr232insGly)
NM_004960.4(FUS):c.685GGT[5] (p.Gly230_Gly231dup)	rs757651881
NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup)	rs757651881
NM_004960.4(FUS):c.689G>T (p.Gly230Val)
NM_004960.4(FUS):c.691G>A (p.Gly231Ser)	rs2144114616
NM_004960.4(FUS):c.700C>T (p.Arg234Cys)
NM_004960.4(FUS):c.731G>A (p.Arg244His)
NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)
NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)
NM_004960.4(FUS):c.743G>A (p.Arg248His)	rs760351730
NM_004960.4(FUS):c.761T>C (p.Met254Thr)
NM_004960.4(FUS):c.823C>T (p.His275Tyr)
NM_004960.4(FUS):c.831C>T (p.Ser277=)
NM_004960.4(FUS):c.833-6A>G
NM_004960.4(FUS):c.884A>G (p.Asn295Ser)

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.