List of variants reported as likely pathogenic for behavioral variant of frontotemporal dementia 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: 76

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)	rs764971634	0.00002
NM_000454.5(SOD1):c.358G>C (p.Val120Leu)	rs1457889952	0.00001
NM_001008212.2(OPTN):c.1149-2A>G	rs867368757	0.00001
NM_001008212.2(OPTN):c.626+1G>A	rs756957223	0.00001
NM_001008212.2(OPTN):c.780-2A>C	rs768117011	0.00001
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)	rs766653950	0.00001
NM_007126.5(VCP):c.278G>A (p.Arg93His)	rs779959657	0.00001
NM_007126.5(VCP):c.284G>A (p.Arg95His)	rs758169026	0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	rs80356719	0.00001
NM_007375.4(TARDBP):c.931A>G (p.Met311Val)	rs80356725	0.00001
NC_000010.10:g.(?_13152353)_(13162081_?)del
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)	rs63750687
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)	rs1897876766
NM_000021.4(PSEN1):c.338+7A>G	rs1897878139
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	rs63751399
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)	rs63750353
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)	rs63750053
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)	rs267606983
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)	rs1362575880
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)	rs199723282
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)	rs63750779
NM_000454.5(SOD1):c.115C>G (p.Leu39Val)	rs121912432
NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)
NM_000454.5(SOD1):c.143T>C (p.Val48Ala)	rs1568809169
NM_000454.5(SOD1):c.146A>G (p.His49Arg)	rs1568809172
NM_000454.5(SOD1):c.19T>G (p.Cys7Gly)	rs1312702973
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)	rs121912455
NM_000454.5(SOD1):c.241C>T (p.His81Tyr)
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser)	rs121912436
NM_000454.5(SOD1):c.262G>A (p.Val88Met)	rs1568810641
NM_000454.5(SOD1):c.263T>C (p.Val88Ala)	rs1339283341
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)	rs121912437
NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)
NM_000454.5(SOD1):c.342T>G (p.Ile114Met)
NM_000454.5(SOD1):c.346C>T (p.Arg116Cys)	rs1301635320
NM_000454.5(SOD1):c.347G>A (p.Arg116His)
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)	rs121912456
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala)	rs1568811445
NM_000454.5(SOD1):c.425G>T (p.Gly142Val)
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr)	rs121912447
NM_000454.5(SOD1):c.437C>T (p.Ala146Val)	rs1131690781
NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)
NM_000454.5(SOD1):c.43G>A (p.Val15Met)	rs1568807400
NM_000454.5(SOD1):c.43G>C (p.Val15Leu)	rs1568807400
NM_000454.5(SOD1):c.445G>A (p.Val149Ile)
NM_000454.5(SOD1):c.44T>G (p.Val15Gly)	rs1202989817
NM_000454.5(SOD1):c.49G>T (p.Gly17Cys)	rs121912453
NM_000454.5(SOD1):c.63C>G (p.Phe21Leu)	rs1555836170
NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)
NM_000454.5(SOD1):c.69G>C (p.Gln23His)	rs1424217272
NM_001008212.2(OPTN):c.1401+1G>A	rs1370982012
NM_001008212.2(OPTN):c.369+2T>C
NM_001008212.2(OPTN):c.370-1G>A	rs2131488754
NM_001008212.2(OPTN):c.780-1G>C	rs759311192
NM_001008212.2(OPTN):c.882+2_882+3del
NM_001377265.1(MAPT):c.2091+16C>G
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)	rs63750568
NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser)	rs63750095
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His)	rs1598408073
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)
NM_007126.5(VCP):c.273C>A (p.Asn91Lys)	rs1563980966
NM_007126.5(VCP):c.283C>A (p.Arg95Ser)
NM_007126.5(VCP):c.284G>C (p.Arg95Pro)	rs758169026
NM_007126.5(VCP):c.374G>A (p.Gly125Asp)	rs1563980403
NM_007126.5(VCP):c.382G>A (p.Gly128Ser)
NM_007126.5(VCP):c.463C>G (p.Arg155Gly)	rs121909330
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)	rs864309501
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)	rs1557660662
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)	rs797044594
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)	rs1304706298

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.